Browse Genes Associated with Rare Diseases

The RARe-SOURCE® platform integrates comprehensive gene information associated with rare diseases. View and explore detailed gene information and explore associated variants, linked publications, and 2D/3D protein structures.

Gene Information	Description	Associated Rare Diseases	Gene Annotations	Gene IDs	Ensembl Gene ID	HGNC ID	Links	Manually Curated	Curated Count	HG38 Variant Count	PMID Count
A4GALT	alpha 1,4-galactosyltransferase (P1PK blood group)	A4GALT-congenital disorder of glycosylation?0027281	https://raresource.nih.gov/literature/gene/A4GALT	53947	ENSG00000128274	18149	https://pubmed.ncbi.nlm.nih.gov/?term=A4GALT	None	None	12263	5233
AAAS	aladin WD repeat nucleoporin	Glucocorticoid deficiency with achalasia?0000457	https://raresource.nih.gov/literature/gene/AAAS	8086	ENSG00000094914	13666	https://pubmed.ncbi.nlm.nih.gov/?term=AAAS	None	None	5970	707
AAGAB	alpha and gamma adaptin binding protein	Punctate palmoplantar keratoderma type 1?0003103;Palmoplantar keratoderma, punctate type 1A?0015081	https://raresource.nih.gov/literature/gene/AAGAB	79719	ENSG00000103591	25662	https://pubmed.ncbi.nlm.nih.gov/?term=AAGAB	None	None	12967	703
AARS1	alanyl-tRNA synthetase 1	Charcot-Marie-Tooth disease axonal type 2N?0012429;Trichothiodystrophy?0012109;AARS1-related leukoencephalopathy?0027336;Leukoencephalopathy, hereditary diffuse, with spheroids 2?0027268;Developmental and epileptic encephalopathy, 29?0016092;Undetermined early-onset epileptic encephalopathy?0015028;Trichothiodystrophy 8, nonphotosensitive?0025589	https://raresource.nih.gov/literature/gene/AARS1	16	ENSG00000090861	20	https://pubmed.ncbi.nlm.nih.gov/?term=AARS1	None	None	17871	602
AARS2	alanyl-tRNA synthetase 2, mitochondrial	Combined oxidative phosphorylation defect type 8?0017452;Leukoencephalopathy, progressive, with ovarian failure?0018252	https://raresource.nih.gov/literature/gene/AARS2	57505	ENSG00000124608	21022	https://pubmed.ncbi.nlm.nih.gov/?term=AARS2	None	None	5918	86
AASS	aminoadipate-semialdehyde synthase	Hyperlysinemia?0002828;Saccharopinuria?0000314	https://raresource.nih.gov/literature/gene/AASS	10157	ENSG00000008311	17366	https://pubmed.ncbi.nlm.nih.gov/?term=AASS	None	None	25943	86
ABAT	4-aminobutyrate aminotransferase	Gamma-aminobutyric acid transaminase deficiency?0000194	https://raresource.nih.gov/literature/gene/ABAT	18	ENSG00000183044	23	https://pubmed.ncbi.nlm.nih.gov/?term=ABAT	None	None	38540	1415
ABCA1	ATP binding cassette subfamily A member 1	Tangier disease?0007731;Hypoalphalipoproteinemia, primary, 1?0024796	https://raresource.nih.gov/literature/gene/ABCA1	19	ENSG00000165029	29	https://pubmed.ncbi.nlm.nih.gov/?term=ABCA1	None	None	55930	366
ABCA12	ATP binding cassette subfamily A member 12	Autosomal recessive congenital ichthyosis 4A?0009733;Congenital nonbullous ichthyosiform erythroderma?0009736;Autosomal recessive congenital ichthyosis 4B?0006568;Lamellar ichthyosis?0010803	https://raresource.nih.gov/literature/gene/ABCA12	26154	ENSG00000144452	14637	https://pubmed.ncbi.nlm.nih.gov/?term=ABCA12	None	None	76826	255
ABCA2	ATP binding cassette subfamily A member 2	Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/ABCA2	20	ENSG00000107331	32	https://pubmed.ncbi.nlm.nih.gov/?term=ABCA2	None	None	11775	185
ABCA3	ATP binding cassette subfamily A member 3	Interstitial lung disease due to ABCA3 deficiency?0017745	https://raresource.nih.gov/literature/gene/ABCA3	21	ENSG00000167972	33	https://pubmed.ncbi.nlm.nih.gov/?term=ABCA3	None	None	22316	459
ABCA4	ATP binding cassette subfamily A member 4	Cone-rod dystrophy 3?0010653;Retinitis pigmentosa 19?0010398;Stargardt disease?0000181;ABCA4-related retinopathy?0026556;Cone-rod dystrophy?0010790;Severe early-childhood-onset retinal dystrophy?0021565;Age related macular degeneration 2?0024587	https://raresource.nih.gov/literature/gene/ABCA4	24	ENSG00000198691	34	https://pubmed.ncbi.nlm.nih.gov/?term=ABCA4	None	None	48677	2004
ABCA5	ATP binding cassette subfamily A member 5	Gingival fibromatosis-hypertrichosis syndrome?0002324	https://raresource.nih.gov/literature/gene/ABCA5	23461	ENSG00000154265	35	https://pubmed.ncbi.nlm.nih.gov/?term=ABCA5	None	None	29298	60
ABCB11	ATP binding cassette subfamily B member 11	Progressive familial intrahepatic cholestasis type 2?0001288;Benign recurrent intrahepatic cholestasis type 2?0010029	https://raresource.nih.gov/literature/gene/ABCB11	8647	ENSG00000073734	42	https://pubmed.ncbi.nlm.nih.gov/?term=ABCB11	None	None	43178	1682
ABCB4	ATP binding cassette subfamily B member 4	Cholestasis, intrahepatic, of pregnancy, 3?0015888;Progressive familial intrahepatic cholestasis type 3?0001289;Low phospholipid associated cholelithiasis?0016683	https://raresource.nih.gov/literature/gene/ABCB4	5244	ENSG00000005471	45	https://pubmed.ncbi.nlm.nih.gov/?term=ABCB4	None	None	26199	1343
ABCB6	ATP binding cassette subfamily B member 6 (LAN blood group)	Familial pseudohyperkalemia?0016785;Coloboma of choroid and retina?0016875;Microphthalmia, isolated, with coloboma 7?0015811;Microphthalmia, isolated, with coloboma?0003644;Dyschromatosis universalis hereditaria 3?0015959;Iris coloboma?0001434;Eyelid coloboma?0019605;Dyschromatosis universalis hereditaria?0001996;Lens coloboma?0001433;Coloboma of macula?0001436	https://raresource.nih.gov/literature/gene/ABCB6	10058	ENSG00000115657	47	https://pubmed.ncbi.nlm.nih.gov/?term=ABCB6	None	None	4560	7261
ABCB7	ATP binding cassette subfamily B member 7	X-linked sideroblastic anemia with ataxia?0000668	https://raresource.nih.gov/literature/gene/ABCB7	22	ENSG00000131269	48	https://pubmed.ncbi.nlm.nih.gov/?term=ABCB7	None	None	17783	32
ABCC1	ATP binding cassette subfamily C member 1 (ABCC1 blood group)	Hearing loss, autosomal dominant 77?0018155;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/ABCC1	4363	ENSG00000103222	51	https://pubmed.ncbi.nlm.nih.gov/?term=ABCC1	None	None	78612	5961
ABCC2	ATP binding cassette subfamily C member 2	Dubin-Johnson syndrome?0002793	https://raresource.nih.gov/literature/gene/ABCC2	1244	ENSG00000023839	53	https://pubmed.ncbi.nlm.nih.gov/?term=ABCC2	None	None	28945	3955
ABCC6	ATP binding cassette subfamily C member 6	Pseudoxanthoma elasticum, forme fruste?0010104;Arterial calcification, generalized, of infancy, 2?0024947;Arterial calcification of infancy?0008380;Autosomal recessive inherited pseudoxanthoma elasticum?0024699	https://raresource.nih.gov/literature/gene/ABCC6	368	ENSG00000091262	57	https://pubmed.ncbi.nlm.nih.gov/?term=ABCC6	None	None	22620	31
ABCC8	ATP binding cassette subfamily C member 8	DEND syndrome?0016701;Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency?0017285;Autosomal dominant hyperinsulinism due to SUR1 deficiency?0017283;Maturity onset diabetes mellitus in young?0003697;Diabetes mellitus, transient neonatal, 2?0015482;Leucine-induced hypoglycemia?0009915;Hyperinsulinemic hypoglycemia, familial, 1?0024690;Diabetes mellitus, permanent neonatal 3?0016389;Permanent neonatal diabetes mellitus?0010457;Autosomal recessive hyperinsulinism due to SUR1 deficiency?0016726	https://raresource.nih.gov/literature/gene/ABCC8	6833	ENSG00000006071	59	https://pubmed.ncbi.nlm.nih.gov/?term=ABCC8	None	None	33733	3281
ABCC9	ATP binding cassette subfamily C member 9	Dilated cardiomyopathy 1O?0015434;Atrial fibrillation, familial, 12?0015748;Hypertrichotic osteochondrodysplasia Cantu type?0008585;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/ABCC9	10060	ENSG00000069431	60	https://pubmed.ncbi.nlm.nih.gov/?term=ABCC9	None	None	36700	448
ABCD1	ATP binding cassette subfamily D member 1	X-linked cerebral adrenoleukodystrophy?0009412;Adrenoleukodystrophy?0005758;Adrenomyeloneuropathy?0010614;Aganglionic megacolon?0006660	https://raresource.nih.gov/literature/gene/ABCD1	215	ENSG00000101986	61	https://pubmed.ncbi.nlm.nih.gov/?term=ABCD1	None	None	5065	1260
ABCD3	ATP binding cassette subfamily D member 3	Congenital bile acid synthesis defect 5?0025002;Oculopharyngodistal myopathy?0012592	https://raresource.nih.gov/literature/gene/ABCD3	5825	ENSG00000117528	67	https://pubmed.ncbi.nlm.nih.gov/?term=ABCD3	None	None	37034	268
ABCD4	ATP binding cassette subfamily D member 4	Methylmalonic acidemia with homocystinuria, type cblJ?0012621	https://raresource.nih.gov/literature/gene/ABCD4	5826	ENSG00000119688	68	https://pubmed.ncbi.nlm.nih.gov/?term=ABCD4	None	None	6715	81
ABCG5	ATP binding cassette subfamily G member 5	Sitosterolemia?0007653;Sitosterolemia 2?0016372	https://raresource.nih.gov/literature/gene/ABCG5	64240	ENSG00000138075	13886	https://pubmed.ncbi.nlm.nih.gov/?term=ABCG5	None	None	12616	982
ABCG8	ATP binding cassette subfamily G member 8	Sitosterolemia?0007653;Sitosterolemia 1?0025235	https://raresource.nih.gov/literature/gene/ABCG8	64241	ENSG00000143921	13887	https://pubmed.ncbi.nlm.nih.gov/?term=ABCG8	None	None	23901	752
ABHD12	abhydrolase domain containing 12, lysophospholipase	PHARC syndrome?0017071	https://raresource.nih.gov/literature/gene/ABHD12	26090	ENSG00000100997	15868	https://pubmed.ncbi.nlm.nih.gov/?term=ABHD12	None	None	26960	98
ABHD16A	abhydrolase domain containing 16A, phospholipase	Spastic paraplegia 86, autosomal recessive?0025605	https://raresource.nih.gov/literature/gene/ABHD16A	7920	ENSG00000204427	13921	https://pubmed.ncbi.nlm.nih.gov/?term=ABHD16A	None	None	7150	37
ABHD5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	Triglyceride storage disease with ichthyosis?0003979	https://raresource.nih.gov/literature/gene/ABHD5	51099	ENSG00000011198	21396	https://pubmed.ncbi.nlm.nih.gov/?term=ABHD5	None	None	17433	199
ABL1	ABL proto-oncogene 1, non-receptor tyrosine kinase	Congenital heart defects and skeletal malformations syndrome?0025997;Chronic myelogenous leukemia, BCR-ABL1 positive?0006105;Ehlers-Danlos syndrome, type 4?0002082;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/ABL1	25	ENSG00000097007	76	https://pubmed.ncbi.nlm.nih.gov/?term=ABL1	None	None	65798	15614
ACAD8	acyl-CoA dehydrogenase family member 8	Deficiency of isobutyryl-CoA dehydrogenase?0010223	https://raresource.nih.gov/literature/gene/ACAD8	27034	ENSG00000151498	87	https://pubmed.ncbi.nlm.nih.gov/?term=ACAD8	None	None	3951	47
ACAD9	acyl-CoA dehydrogenase family member 9	Acyl-CoA dehydrogenase 9 deficiency?0012986	https://raresource.nih.gov/literature/gene/ACAD9	28976	ENSG00000177646	21497	https://pubmed.ncbi.nlm.nih.gov/?term=ACAD9	None	None	12916	73
ACADM	acyl-CoA dehydrogenase medium chain	Medium-chain acyl-coenzyme A dehydrogenase deficiency?0000540	https://raresource.nih.gov/literature/gene/ACADM	34	ENSG00000117054	89	https://pubmed.ncbi.nlm.nih.gov/?term=ACADM	None	None	18445	1322
ACADS	acyl-CoA dehydrogenase short chain	Deficiency of butyryl-CoA dehydrogenase?0004822	https://raresource.nih.gov/literature/gene/ACADS	35	ENSG00000122971	90	https://pubmed.ncbi.nlm.nih.gov/?term=ACADS	None	None	5832	396
ACADSB	acyl-CoA dehydrogenase short/branched chain	Deficiency of 2-methylbutyryl-CoA dehydrogenase?0010322	https://raresource.nih.gov/literature/gene/ACADSB	36	ENSG00000196177	91	https://pubmed.ncbi.nlm.nih.gov/?term=ACADSB	None	None	18686	101
ACADVL	acyl-CoA dehydrogenase very long chain	Very long chain acyl-CoA dehydrogenase deficiency?0005508	https://raresource.nih.gov/literature/gene/ACADVL	37	ENSG00000072778	92	https://pubmed.ncbi.nlm.nih.gov/?term=ACADVL	None	None	2926	457
ACAN	aggrecan	Short stature-advanced bone age-early-onset osteoarthritis syndrome?0017717;Spondyloepiphyseal dysplasia, Kimberley type?0016814;Spondyloepimetaphyseal dysplasia, aggrecan type?0010513;Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans?0004133	https://raresource.nih.gov/literature/gene/ACAN	176	ENSG00000157766	319	https://pubmed.ncbi.nlm.nih.gov/?term=ACAN	None	None	22261	6374
ACAT1	acetyl-CoA acetyltransferase 1	Deficiency of acetyl-CoA acetyltransferase?0000872	https://raresource.nih.gov/literature/gene/ACAT1	38	ENSG00000075239	93	https://pubmed.ncbi.nlm.nih.gov/?term=ACAT1	None	None	8895	3104
ACD	ACD shelterin complex subunit and telomerase recruitment factor	Dyskeratosis congenita, autosomal dominant 6?0016136;Hoyeraal-Hreidarsson syndrome?0000346;ACD-related telomere biology disorder?0026569	https://raresource.nih.gov/literature/gene/ACD	65057	ENSG00000102977	25070	https://pubmed.ncbi.nlm.nih.gov/?term=ACD	None	None	1765	815
ACE	angiotensin I converting enzyme	Renal tubular dysgenesis - ACE?0027294;Renal tubular dysgenesis of genetic origin?0016854	https://raresource.nih.gov/literature/gene/ACE	1636	ENSG00000159640	2707	https://pubmed.ncbi.nlm.nih.gov/?term=ACE	None	None	8887	57382
ACER3	alkaline ceramidase 3	Alkaline ceramidase 3 deficiency?0017936	https://raresource.nih.gov/literature/gene/ACER3	55331	ENSG00000078124	16066	https://pubmed.ncbi.nlm.nih.gov/?term=ACER3	None	None	53026	138
ACKR1	atypical chemokine receptor 1 (Duffy blood group)	Malaria?0006961	https://raresource.nih.gov/literature/gene/ACKR1	2532	ENSG00000213088	4035	https://pubmed.ncbi.nlm.nih.gov/?term=ACKR1	None	None	1727	1656
ACO2	aconitase 2	Optic atrophy 9?0018199;Infantile cerebellar-retinal degeneration?0013264;ACO2-related optic atrophy with or without extraocular features?0027584	https://raresource.nih.gov/literature/gene/ACO2	50	ENSG00000100412	118	https://pubmed.ncbi.nlm.nih.gov/?term=ACO2	None	None	15841	590
ACOX1	acyl-CoA oxidase 1	Mitchell syndrome?0025523;Acyl-CoA oxidase deficiency?0004543	https://raresource.nih.gov/literature/gene/ACOX1	51	ENSG00000161533	119	https://pubmed.ncbi.nlm.nih.gov/?term=ACOX1	None	None	13965	2138
ACOX2	acyl-CoA oxidase 2	Congenital bile acid synthesis defect 6?0025050	https://raresource.nih.gov/literature/gene/ACOX2	8309	ENSG00000168306	120	https://pubmed.ncbi.nlm.nih.gov/?term=ACOX2	None	None	13721	143
ACP2	acid phosphatase 2, lysosomal	Acid phosphatase deficiency?0016636	https://raresource.nih.gov/literature/gene/ACP2	53	ENSG00000134575	123	https://pubmed.ncbi.nlm.nih.gov/?term=ACP2	None	None	1999	2135
ACP4	acid phosphatase 4	Amelogenesis imperfecta type 1?0000645;Amelogenesis imperfecta, type 1J?0016220	https://raresource.nih.gov/literature/gene/ACP4	93650	ENSG00000142513	14376	https://pubmed.ncbi.nlm.nih.gov/?term=ACP4	None	None	2523	46
ACP5	acid phosphatase 5, tartrate resistant	Spondyloenchondrodysplasia with immune dysregulation?0004978	https://raresource.nih.gov/literature/gene/ACP5	54	ENSG00000102575	124	https://pubmed.ncbi.nlm.nih.gov/?term=ACP5	None	None	2999	6474
ACSF3	acyl-CoA synthetase family member 3	Combined malonic and methylmalonic acidemia?0010818	https://raresource.nih.gov/literature/gene/ACSF3	197322	ENSG00000176715	27288	https://pubmed.ncbi.nlm.nih.gov/?term=ACSF3	None	None	25410	89
ACSL4	acyl-CoA synthetase long chain family member 4	Intellectual disability, X-linked 63?0005613;Non-syndromic X-linked intellectual disability?0018640	https://raresource.nih.gov/literature/gene/ACSL4	2182	ENSG00000068366	3571	https://pubmed.ncbi.nlm.nih.gov/?term=ACSL4	None	None	17631	2040
ACTA1	actin alpha 1, skeletal muscle	Alpha-actinopathy?0026038;Congenital myopathy 2c, severe infantile, autosomal dominant?0026735;Congenital myopathy with fiber type disproportion?0006161;Rigid spine syndrome?0004723;Childhood-onset nemaline myopathy?0007171;Congenital myopathy 2b, severe infantile, autosomal recessive?0026732;Severe congenital nemaline myopathy?0012821;Actin accumulation myopathy?0010111;Typical nemaline myopathy?0012822;Intermediate nemaline myopathy?0012823;Zebra body myopathy?0019354;Progressive scapulohumeroperoneal distal myopathy?0017779	https://raresource.nih.gov/literature/gene/ACTA1	58	ENSG00000143632	129	https://pubmed.ncbi.nlm.nih.gov/?term=ACTA1	None	None	3291	1391
ACTA2	actin alpha 2, smooth muscle	Moyamoya disease 5?0015746;Familial thoracic aortic aneurysm and aortic dissection?0002249;Multisystemic smooth muscle dysfunction syndrome?0012811;Aortic aneurysm, familial thoracic 6?0015527	https://raresource.nih.gov/literature/gene/ACTA2	59	ENSG00000107796	130	https://pubmed.ncbi.nlm.nih.gov/?term=ACTA2	None	None	665	1438
ACTB	actin beta	Baraitser-Winter syndrome?0005279;Becker nevus syndrome?0005901;ACTB-associated syndromic thrombocytopenia?0026211;Developmental malformations-deafness-dystonia syndrome?0009818;Baraitser-Winter syndrome 1?0015189	https://raresource.nih.gov/literature/gene/ACTB	60	ENSG00000075624	132	https://pubmed.ncbi.nlm.nih.gov/?term=ACTB	None	None	6856	1729
ACTC1	actin alpha cardiac muscle 1	Dilated cardiomyopathy 1R?0015661;ACTC1-related distal arthrogryposis with congenital heart disease?0027543;Atrial septal defect, ostium secundum type?0005865;Familial isolated dilated cardiomyopathy?0027293;Tetralogy of Fallot?0002245;Hypertrophic cardiomyopathy 11?0024889;Atrial septal defect 5?0024898	https://raresource.nih.gov/literature/gene/ACTC1	70	ENSG00000159251	143	https://pubmed.ncbi.nlm.nih.gov/?term=ACTC1	None	None	2769	312
ACTG1	actin gamma 1	Baraitser-Winter syndrome?0005279;Autosomal dominant nonsyndromic hearing loss 20?0018111;Coloboma of choroid and retina?0016875;Baraitser-winter syndrome 2?0015817;Autosomal dominant nonsyndromic hearing loss?0016791;Iris coloboma?0001434	https://raresource.nih.gov/literature/gene/ACTG1	71	ENSG00000184009	144	https://pubmed.ncbi.nlm.nih.gov/?term=ACTG1	None	None	3907	2319
ACTG2	actin gamma 2, smooth muscle	Hereditary hollow viscus myopathy?0003443;Myopathic intestinal pseudoobstruction?0019853	https://raresource.nih.gov/literature/gene/ACTG2	72	ENSG00000163017	145	https://pubmed.ncbi.nlm.nih.gov/?term=ACTG2	None	None	14217	2316
ACTL6B	actin like 6B	Intellectual developmental disorder with severe speech and ambulation defects?0018518;Developmental and epileptic encephalopathy, 76?0016355;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/ACTL6B	51412	ENSG00000077080	160	https://pubmed.ncbi.nlm.nih.gov/?term=ACTL6B	None	None	5969	47
ACTN1	actinin alpha 1	Platelet-type bleeding disorder 15?0018272;Autosomal dominant macrothrombocytopenia?0016965	https://raresource.nih.gov/literature/gene/ACTN1	87	ENSG00000072110	163	https://pubmed.ncbi.nlm.nih.gov/?term=ACTN1	None	None	26581	31
ACTN2	actinin alpha 2	Familial isolated dilated cardiomyopathy?0027293;Dilated cardiomyopathy 1AA?0015543;ACTN2-related cardiac and skeletal myopathy?0027541;Myopathy, distal, 6, adult-onset, autosomal dominant?0027523;Myopathy, congenital, with structured cores and z-line abnormalities?0025759	https://raresource.nih.gov/literature/gene/ACTN2	88	ENSG00000077522	164	https://pubmed.ncbi.nlm.nih.gov/?term=ACTN2	None	None	35873	286
ACTN4	actinin alpha 4	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Focal segmental glomerulosclerosis 1?0015353	https://raresource.nih.gov/literature/gene/ACTN4	81	ENSG00000130402	166	https://pubmed.ncbi.nlm.nih.gov/?term=ACTN4	None	None	23011	671
ACVR1	activin A receptor type 1	Progressive myositis ossificans?0006445	https://raresource.nih.gov/literature/gene/ACVR1	90	ENSG00000115170	171	https://pubmed.ncbi.nlm.nih.gov/?term=ACVR1	None	None	51172	985
ACVR1B	activin A receptor type 1B	Familial pancreatic carcinoma?0004206	https://raresource.nih.gov/literature/gene/ACVR1B	91	ENSG00000135503	172	https://pubmed.ncbi.nlm.nih.gov/?term=ACVR1B	None	None	12729	372
ACVR2B	activin A receptor type 2B	Tetralogy of Fallot?0002245;Heterotaxy, visceral, 4, autosomal?0024918	https://raresource.nih.gov/literature/gene/ACVR2B	93	ENSG00000114739	174	https://pubmed.ncbi.nlm.nih.gov/?term=ACVR2B	None	None	16308	496
ACVRL1	activin A receptor like type 1	Hereditary hemorrhagic telangiectasia?0006626;Telangiectasia, hereditary hemorrhagic, type 2?0009901	https://raresource.nih.gov/literature/gene/ACVRL1	94	ENSG00000139567	175	https://pubmed.ncbi.nlm.nih.gov/?term=ACVRL1	None	None	5455	1555
ACY1	aminoacylase 1	Aminoacylase 1 deficiency?0009741	https://raresource.nih.gov/literature/gene/ACY1	95	ENSG00000243989	177	https://pubmed.ncbi.nlm.nih.gov/?term=ACY1	None	None	82	359
ADA	adenosine deaminase	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency?0005748	https://raresource.nih.gov/literature/gene/ADA	100	ENSG00000196839	186	https://pubmed.ncbi.nlm.nih.gov/?term=ADA	None	None	8789	8893
ADA2	adenosine deaminase 2	Vasculitis due to ADA2 deficiency?0012383;Deficiency of adenosine deaminase 2?0026141;Sneddon syndrome?0007664;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/ADA2	51816	ENSG00000093072	1839	https://pubmed.ncbi.nlm.nih.gov/?term=ADA2	None	None	15493	1579
ADAM10	ADAM metallopeptidase domain 10	Reticulate acropigmentation of Kitamura?0017079;Alzheimer disease 18?0024982	https://raresource.nih.gov/literature/gene/ADAM10	102	ENSG00000137845	188	https://pubmed.ncbi.nlm.nih.gov/?term=ADAM10	None	None	49922	1979
ADAM17	ADAM metallopeptidase domain 17	Inflammatory skin and bowel disease, neonatal, 1?0018429;Neonatal inflammatory skin and bowel disease?0017355	https://raresource.nih.gov/literature/gene/ADAM17	6868	ENSG00000151694	195	https://pubmed.ncbi.nlm.nih.gov/?term=ADAM17	None	None	28880	3053
ADAM22	ADAM metallopeptidase domain 22	Developmental and epileptic encephalopathy, 61?0025798	https://raresource.nih.gov/literature/gene/ADAM22	53616	ENSG00000008277	201	https://pubmed.ncbi.nlm.nih.gov/?term=ADAM22	None	None	44191	132
ADAM9	ADAM metallopeptidase domain 9	Cone-rod dystrophy?0010790;ADAM9-related retinopathy?0026548;Cone-rod dystrophy 9?0015582	https://raresource.nih.gov/literature/gene/ADAM9	8754	ENSG00000168615	216	https://pubmed.ncbi.nlm.nih.gov/?term=ADAM9	None	None	41123	22
ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	Weill-Marchesani syndrome?0004936;Weill-Marchesani syndrome 1?0015246	https://raresource.nih.gov/literature/gene/ADAMTS10	81794	ENSG00000142303	13201	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTS10	None	None	10848	132
ADAMTS13	ADAM metallopeptidase with thrombospondin type 1 motif 13	Upshaw-Schulman syndrome?0009430	https://raresource.nih.gov/literature/gene/ADAMTS13	11093	ENSG00000160323	1366	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTS13	None	None	16681	3450
ADAMTS15	ADAM metallopeptidase with thrombospondin type 1 motif 15	Arthrogryposis, distal, type 12?0026879	https://raresource.nih.gov/literature/gene/ADAMTS15	170689	ENSG00000166106	16305	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTS15	None	None	5647	45
ADAMTS17	ADAM metallopeptidase with thrombospondin type 1 motif 17	Weill-Marchesani syndrome?0004936;Weill-Marchesani 4 syndrome, recessive?0017579	https://raresource.nih.gov/literature/gene/ADAMTS17	170691	ENSG00000140470	17109	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTS17	None	None	110651	80
ADAMTS18	ADAM metallopeptidase with thrombospondin type 1 motif 18	Microcornea-myopic chorioretinal atrophy?0017593	https://raresource.nih.gov/literature/gene/ADAMTS18	170692	ENSG00000140873	17110	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTS18	None	None	53624	93
ADAMTS2	ADAM metallopeptidase with thrombospondin type 1 motif 2	Ehlers-Danlos syndrome, dermatosparaxis type?0002089	https://raresource.nih.gov/literature/gene/ADAMTS2	9509	ENSG00000087116	218	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTS2	None	None	98060	216
ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	Hennekam lymphangiectasia-lymphedema syndrome 3?0016296;Hennekam lymphangiectasia-lymphedema syndrome?0003318	https://raresource.nih.gov/literature/gene/ADAMTS3	9508	ENSG00000156140	219	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTS3	None	None	108921	644
ADAMTSL1	ADAMTS like 1	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome?0022145	https://raresource.nih.gov/literature/gene/ADAMTSL1	92949	ENSG00000178031	14632	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTSL1	None	None	187900	55
ADAMTSL2	ADAMTS like 2	Geleophysic dysplasia 1?0015172;Geleophysic dysplasia?0002449	https://raresource.nih.gov/literature/gene/ADAMTSL2	9719	ENSG00000197859	14631	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTSL2	None	None	21797	90
ADAMTSL4	ADAMTS like 4	Ectopia lentis 2, isolated, autosomal recessive?0002060;Isolated ectopia lentis?0012251;Ectopia lentis et pupillae?0015164	https://raresource.nih.gov/literature/gene/ADAMTSL4	54507	ENSG00000143382	19706	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTSL4	None	None	6270	85
ADAR	adenosine deaminase RNA specific	Symmetrical dyschromatosis of extremities?0000334;ADAR-related type 1 interferonopathy?0026404;Aicardi-Goutieres syndrome 6?0015894;Aicardi Goutieres syndrome?0000575	https://raresource.nih.gov/literature/gene/ADAR	103	ENSG00000160710	225	https://pubmed.ncbi.nlm.nih.gov/?term=ADAR	None	None	20702	2012
ADAT3	adenosine deaminase tRNA specific 3	Intellectual disability-strabismus syndrome?0017563	https://raresource.nih.gov/literature/gene/ADAT3	113179	ENSG00000213638	25151	https://pubmed.ncbi.nlm.nih.gov/?term=ADAT3	None	None	3955	38
ADCY1	adenylate cyclase 1	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 44?0022620	https://raresource.nih.gov/literature/gene/ADCY1	107	ENSG00000164742	232	https://pubmed.ncbi.nlm.nih.gov/?term=ADCY1	None	None	55264	1751
ADCY10	adenylate cyclase 10	Familial idiopathic hypercalciuria?0018583	https://raresource.nih.gov/literature/gene/ADCY10	55811	ENSG00000143199	21285	https://pubmed.ncbi.nlm.nih.gov/?term=ADCY10	None	None	39632	1214
ADCY5	adenylate cyclase 5	Dyskinesia with orofacial involvement, autosomal dominant?0012722;Chorea?0015152	https://raresource.nih.gov/literature/gene/ADCY5	111	ENSG00000173175	236	https://pubmed.ncbi.nlm.nih.gov/?term=ADCY5	None	None	68188	449
ADCY6	adenylate cyclase 6	Lethal congenital contracture syndrome 8?0018565	https://raresource.nih.gov/literature/gene/ADCY6	112	ENSG00000174233	237	https://pubmed.ncbi.nlm.nih.gov/?term=ADCY6	None	None	6919	249
ADD3	adducin 3	Cerebral palsy, spastic quadriplegic, 3?0018310;Spastic quadriplegic cerebral palsy?0017109	https://raresource.nih.gov/literature/gene/ADD3	120	ENSG00000148700	245	https://pubmed.ncbi.nlm.nih.gov/?term=ADD3	None	None	51225	124
ADGRE2	adhesion G protein-coupled receptor E2	Autosomal dominant vibratory urticaria?0009806	https://raresource.nih.gov/literature/gene/ADGRE2	30817	ENSG00000127507	3337	https://pubmed.ncbi.nlm.nih.gov/?term=ADGRE2	None	None	17858	300
ADGRG1	adhesion G protein-coupled receptor G1	Polymicrogyria, bilateral perisylvian, autosomal recessive?0016009;Bilateral frontoparietal polymicrogyria?0010784;Congenital bilateral perisylvian syndrome?0006011	https://raresource.nih.gov/literature/gene/ADGRG1	9289	ENSG00000205336	4512	https://pubmed.ncbi.nlm.nih.gov/?term=ADGRG1	None	None	14115	333
ADGRG2	adhesion G protein-coupled receptor G2	Congenital bilateral absence of vas deferens?0005461;Vas deferens, congenital bilateral aplasia of, X-linked?0015279	https://raresource.nih.gov/literature/gene/ADGRG2	10149	ENSG00000173698	4516	https://pubmed.ncbi.nlm.nih.gov/?term=ADGRG2	None	None	22992	29
ADGRG6	adhesion G protein-coupled receptor G6	Lethal congenital contracture syndrome 9?0025011	https://raresource.nih.gov/literature/gene/ADGRG6	57211	ENSG00000112414	13841	https://pubmed.ncbi.nlm.nih.gov/?term=ADGRG6	None	None	56096	174
ADGRV1	adhesion G protein-coupled receptor V1	Usher syndrome type 2C?0008497;Usher syndrome type 2?0005440	https://raresource.nih.gov/literature/gene/ADGRV1	84059	ENSG00000164199	17416	https://pubmed.ncbi.nlm.nih.gov/?term=ADGRV1	None	None	226723	221
ADH1C	alcohol dehydrogenase 1C (class I), gamma polypeptide	Parkinson disease, late-onset?0017684	https://raresource.nih.gov/literature/gene/ADH1C	126	ENSG00000248144	251	https://pubmed.ncbi.nlm.nih.gov/?term=ADH1C	None	None	None	1051
ADH5	alcohol dehydrogenase 5 (class III), chi polypeptide	AMED syndrome, digenic?0018026	https://raresource.nih.gov/literature/gene/ADH5	128	ENSG00000197894	253	https://pubmed.ncbi.nlm.nih.gov/?term=ADH5	None	None	7962	1576
ADK	adenosine kinase	Adenosine kinase deficiency?0017321	https://raresource.nih.gov/literature/gene/ADK	132	ENSG00000156110	257	https://pubmed.ncbi.nlm.nih.gov/?term=ADK	None	None	195624	2660
ADNP	activity dependent neuroprotector homeobox	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder?0012931;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/ADNP	23394	ENSG00000101126	15766	https://pubmed.ncbi.nlm.nih.gov/?term=ADNP	None	None	16613	328
ADPRS	ADP-ribosylserine hydrolase	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures?0026044	https://raresource.nih.gov/literature/gene/ADPRS	54936	ENSG00000116863	21304	https://pubmed.ncbi.nlm.nih.gov/?term=ADPRS	None	None	None	86
ADRA2A	adrenoceptor alpha 2A	Lipodystrophy, familial partial, type 8?0026913	https://raresource.nih.gov/literature/gene/ADRA2A	150	ENSG00000150594	281	https://pubmed.ncbi.nlm.nih.gov/?term=ADRA2A	None	None	3144	685
ADRA2B	adrenoceptor alpha 2B	Benign adult familial myoclonic epilepsy?0016758	https://raresource.nih.gov/literature/gene/ADRA2B	151	ENSG00000274286	282	https://pubmed.ncbi.nlm.nih.gov/?term=ADRA2B	None	None	3039	11348
ADRB3	adrenoceptor beta 3	Inherited obesity?0018935	https://raresource.nih.gov/literature/gene/ADRB3	155	ENSG00000188778	288	https://pubmed.ncbi.nlm.nih.gov/?term=ADRB3	None	None	3575	1149
ADSL	adenylosuccinate lyase	Adenylosuccinate lyase deficiency?0000550	https://raresource.nih.gov/literature/gene/ADSL	158	ENSG00000239900	291	https://pubmed.ncbi.nlm.nih.gov/?term=ADSL	None	None	7622	839
ADSS1	adenylosuccinate synthase 1	Myopathy, distal, 5?0017878	https://raresource.nih.gov/literature/gene/ADSS1	122622	ENSG00000185100	20093	https://pubmed.ncbi.nlm.nih.gov/?term=ADSS1	None	None	10444	43
AEBP1	AE binding protein 1	Ehlers-Danlos syndrome, type 4?0002082;Ehlers-Danlos syndrome, classic-like, 2?0017975	https://raresource.nih.gov/literature/gene/AEBP1	165	ENSG00000106624	303	https://pubmed.ncbi.nlm.nih.gov/?term=AEBP1	None	None	5541	212
AFF2	ALF transcription elongation factor 2	FRAXE?0002378	https://raresource.nih.gov/literature/gene/AFF2	2334	ENSG00000155966	3776	https://pubmed.ncbi.nlm.nih.gov/?term=AFF2	None	None	81789	355
AFF3	ALF transcription elongation factor 3	Mesomelic dysplasia-digital anomalies-intellectual disability syndrome?0026641	https://raresource.nih.gov/literature/gene/AFF3	3899	ENSG00000144218	6473	https://pubmed.ncbi.nlm.nih.gov/?term=AFF3	None	None	215756	126
AFF4	ALF transcription elongation factor 4	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome?0012845	https://raresource.nih.gov/literature/gene/AFF4	27125	ENSG00000072364	17869	https://pubmed.ncbi.nlm.nih.gov/?term=AFF4	None	None	37097	130
AFG2A	AFG2 AAA ATPase homolog A	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome?0017804	https://raresource.nih.gov/literature/gene/AFG2A	166378	ENSG00000145375	18119	https://pubmed.ncbi.nlm.nih.gov/?term=AFG2A	None	None	None	146
AFG2B	AFG2 AAA ATPase homolog B	Hearing loss, autosomal recessive?0018117;Hearing loss, autosomal recessive 119?0025576;AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss?0027068;Neurodevelopmental disorder with hearing loss and spasticity?0027147	https://raresource.nih.gov/literature/gene/AFG2B	79029	ENSG00000171763	28762	https://pubmed.ncbi.nlm.nih.gov/?term=AFG2B	None	None	None	13
AFG3L2	AFG3 like matrix AAA peptidase subunit 2	Spinocerebellar ataxia type 28?0009951;Spastic ataxia 5?0017409;Optic atrophy 12?0016399;AFG3L2-related optic atrophy and/or spastic ataxia spectrum?0027546	https://raresource.nih.gov/literature/gene/AFG3L2	10939	ENSG00000141385	315	https://pubmed.ncbi.nlm.nih.gov/?term=AFG3L2	None	None	16420	110
AGA	aspartylglucosaminidase	Aspartylglucosaminuria?0005854	https://raresource.nih.gov/literature/gene/AGA	175	ENSG00000038002	318	https://pubmed.ncbi.nlm.nih.gov/?term=AGA	None	None	5978	85
AGBL1	AGBL carboxypeptidase 1	Fuchs' endothelial dystrophy?0010018;Corneal dystrophy, Fuchs endothelial, 8?0018223	https://raresource.nih.gov/literature/gene/AGBL1	123624	ENSG00000273540	26504	https://pubmed.ncbi.nlm.nih.gov/?term=AGBL1	None	None	364275	44
AGBL5	AGBL carboxypeptidase 5	Retinitis pigmentosa 75?0016176	https://raresource.nih.gov/literature/gene/AGBL5	60509	ENSG00000084693	26147	https://pubmed.ncbi.nlm.nih.gov/?term=AGBL5	None	None	9553	41
AGK	acylglycerol kinase	Sengers syndrome?0001142;Congenital total cataract?0001159;Cataract 38?0024957	https://raresource.nih.gov/literature/gene/AGK	55750	ENSG00000006530	21869	https://pubmed.ncbi.nlm.nih.gov/?term=AGK	None	None	34466	134
AGL	amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase	Glycogen storage disease type III?0009442	https://raresource.nih.gov/literature/gene/AGL	178	ENSG00000162688	321	https://pubmed.ncbi.nlm.nih.gov/?term=AGL	None	None	32943	427
AGO2	argonaute RISC catalytic component 2	Lessel-Kreienkamp syndrome?0018538	https://raresource.nih.gov/literature/gene/AGO2	27161	ENSG00000123908	3263	https://pubmed.ncbi.nlm.nih.gov/?term=AGO2	None	None	47631	2661
AGPAT2	1-acylglycerol-3-phosphate O-acyltransferase 2	Congenital generalized lipodystrophy type 1?0000084	https://raresource.nih.gov/literature/gene/AGPAT2	10555	ENSG00000169692	325	https://pubmed.ncbi.nlm.nih.gov/?term=AGPAT2	None	None	7719	216
AGPS	alkylglycerone phosphate synthase	Alkylglycerone-phosphate synthase deficiency?0026116;Rhizomelic chondrodysplasia punctata type 3?0009682	https://raresource.nih.gov/literature/gene/AGPS	8540	ENSG00000018510	327	https://pubmed.ncbi.nlm.nih.gov/?term=AGPS	None	None	52841	506
AGRN	agrin	Postsynaptic congenital myasthenic syndrome?0015022;Congenital myasthenic syndrome 8?0015908	https://raresource.nih.gov/literature/gene/AGRN	375790	ENSG00000188157	329	https://pubmed.ncbi.nlm.nih.gov/?term=AGRN	None	None	23424	1356
AGRP	agouti related neuropeptide	Inherited obesity?0018935	https://raresource.nih.gov/literature/gene/AGRP	181	ENSG00000159723	330	https://pubmed.ncbi.nlm.nih.gov/?term=AGRP	None	None	870	1362
AGT	angiotensinogen	Renal tubular dysgenesis of genetic origin?0016854	https://raresource.nih.gov/literature/gene/AGT	183	ENSG00000135744	333	https://pubmed.ncbi.nlm.nih.gov/?term=AGT	None	None	6124	47760
AGTPBP1	ATP/GTP binding carboxypeptidase 1	Neurodegeneration, childhood-onset, with cerebellar atrophy?0027270;Congenital pontocerebellar hypoplasia type 1?0010704	https://raresource.nih.gov/literature/gene/AGTPBP1	23287	ENSG00000135049	17258	https://pubmed.ncbi.nlm.nih.gov/?term=AGTPBP1	None	None	70713	202
AGTR1	angiotensin II receptor type 1	Renal tubular dysgenesis of genetic origin?0016854	https://raresource.nih.gov/literature/gene/AGTR1	185	ENSG00000144891	336	https://pubmed.ncbi.nlm.nih.gov/?term=AGTR1	None	None	15729	9563
AGTR2	angiotensin II receptor type 2	Non-syndromic X-linked intellectual disability?0018640	https://raresource.nih.gov/literature/gene/AGTR2	186	ENSG00000180772	338	https://pubmed.ncbi.nlm.nih.gov/?term=AGTR2	None	None	1477	2691
AGXT	alanine--glyoxylate aminotransferase	Alanine glyoxylate aminotransferase deficiency?0026120;Primary hyperoxaluria, type I?0002835	https://raresource.nih.gov/literature/gene/AGXT	189	ENSG00000172482	341	https://pubmed.ncbi.nlm.nih.gov/?term=AGXT	None	None	7083	3818
AHCY	adenosylhomocysteinase	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase?0013177	https://raresource.nih.gov/literature/gene/AHCY	191	ENSG00000101444	343	https://pubmed.ncbi.nlm.nih.gov/?term=AHCY	None	None	9865	964
AHDC1	AT-hook DNA binding motif containing 1	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome?0013409	https://raresource.nih.gov/literature/gene/AHDC1	27245	ENSG00000126705	25230	https://pubmed.ncbi.nlm.nih.gov/?term=AHDC1	None	None	28783	51
AHI1	Abelson helper integration site 1	Joubert syndrome?0006802;Joubert syndrome 3?0015435;Joubert syndrome with ocular defect?0010168	https://raresource.nih.gov/literature/gene/AHI1	54806	ENSG00000135541	21575	https://pubmed.ncbi.nlm.nih.gov/?term=AHI1	None	None	79369	402
AHR	aryl hydrocarbon receptor	Retinitis pigmentosa 85?0016342	https://raresource.nih.gov/literature/gene/AHR	196	ENSG00000106546	348	https://pubmed.ncbi.nlm.nih.gov/?term=AHR	None	None	105250	10988
AHSG	alpha 2-HS glycoprotein	Alopecia - intellectual disability syndrome?0000612	https://raresource.nih.gov/literature/gene/AHSG	197	ENSG00000145192	349	https://pubmed.ncbi.nlm.nih.gov/?term=AHSG	None	None	4687	1958
AICDA	activation induced cytidine deaminase	Hyper-IgM syndrome type 2?0010578	https://raresource.nih.gov/literature/gene/AICDA	57379	ENSG00000111732	13203	https://pubmed.ncbi.nlm.nih.gov/?term=AICDA	None	None	4444	2457
AIFM1	apoptosis inducing factor mitochondria associated 1	X-linked hereditary sensory and autonomic neuropathy with hearing loss?0012731;Spondyloepimetaphyseal dysplasia, Bieganski type?0004891;Charcot-Marie-Tooth disease X-linked recessive 4?0001240;Severe X-linked mitochondrial encephalomyopathy?0017171	https://raresource.nih.gov/literature/gene/AIFM1	9131	ENSG00000156709	8768	https://pubmed.ncbi.nlm.nih.gov/?term=AIFM1	None	None	7940	2847
AIMP1	aminoacyl tRNA synthetase complex interacting multifunctional protein 1	Hypomyelinating leukodystrophy 3?0004266;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/AIMP1	9255	ENSG00000164022	10648	https://pubmed.ncbi.nlm.nih.gov/?term=AIMP1	None	None	12980	569
AIMP2	aminoacyl tRNA synthetase complex interacting multifunctional protein 2	Leukodystrophy, hypomyelinating, 17?0025980	https://raresource.nih.gov/literature/gene/AIMP2	7965	ENSG00000106305	20609	https://pubmed.ncbi.nlm.nih.gov/?term=AIMP2	None	None	4007	45304
AIP	AHR interacting HSP90 co-chaperone	Gigantism?0006506;Prolactin-producing pituitary gland adenoma?0004508;Familial isolated pituitary adenoma?0010959;Somatotroph adenoma?0024520	https://raresource.nih.gov/literature/gene/AIP	9049	ENSG00000110711	358	https://pubmed.ncbi.nlm.nih.gov/?term=AIP	None	None	4921	778
AIPL1	AIP like 1 HSP90 co-chaperone	Leber congenital amaurosis?0000634;AIPL1-related retinopathy?0026214;Retinitis pigmentosa?0005694;Leber congenital amaurosis 4?0009662	https://raresource.nih.gov/literature/gene/AIPL1	23746	ENSG00000129221	359	https://pubmed.ncbi.nlm.nih.gov/?term=AIPL1	None	None	5724	167
AIRE	autoimmune regulator	Polyglandular autoimmune syndrome, type 1?0008466;Familial isolated hypoparathyroidism due to impaired PTH secretion?0017088	https://raresource.nih.gov/literature/gene/AIRE	326	ENSG00000160224	360	https://pubmed.ncbi.nlm.nih.gov/?term=AIRE	None	None	5746	1444
AK1	adenylate kinase 1	Hemolytic anemia due to adenylate kinase deficiency?0016760	https://raresource.nih.gov/literature/gene/AK1	203	ENSG00000106992	361	https://pubmed.ncbi.nlm.nih.gov/?term=AK1	None	None	6031	591
AK2	adenylate kinase 2	Reticular dysgenesis?0008625	https://raresource.nih.gov/literature/gene/AK2	204	ENSG00000004455	362	https://pubmed.ncbi.nlm.nih.gov/?term=AK2	None	None	27398	273
AK7	adenylate kinase 7	Spermatogenic failure 27?0018405	https://raresource.nih.gov/literature/gene/AK7	122481	ENSG00000140057	20091	https://pubmed.ncbi.nlm.nih.gov/?term=AK7	None	None	35114	62
AK9	adenylate kinase 9	Postsynaptic congenital myasthenic syndrome?0015022	https://raresource.nih.gov/literature/gene/AK9	221264	ENSG00000155085	33814	https://pubmed.ncbi.nlm.nih.gov/?term=AK9	None	None	72925	18
AKAP9	A-kinase anchoring protein 9	Long QT syndrome 11?0010437	https://raresource.nih.gov/literature/gene/AKAP9	10142	ENSG00000127914	379	https://pubmed.ncbi.nlm.nih.gov/?term=AKAP9	None	None	74572	254
AKR1C2	aldo-keto reductase family 1 member C2	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency?0017752	https://raresource.nih.gov/literature/gene/AKR1C2	1646	ENSG00000151632	385	https://pubmed.ncbi.nlm.nih.gov/?term=AKR1C2	None	None	14284	747
AKR1D1	aldo-keto reductase family 1 member D1	Congenital bile acid synthesis defect 2?0010045	https://raresource.nih.gov/literature/gene/AKR1D1	6718	ENSG00000122787	388	https://pubmed.ncbi.nlm.nih.gov/?term=AKR1D1	None	None	41853	143
AKT1	AKT serine/threonine kinase 1	Cowden syndrome 6?0016465;Familial cancer of breast?0017142;Cowden syndrome?0006202;Meningioma?0007015	https://raresource.nih.gov/literature/gene/AKT1	207	ENSG00000142208	391	https://pubmed.ncbi.nlm.nih.gov/?term=AKT1	None	None	12773	132328
AKT2	AKT serine/threonine kinase 2	AKT2-related familial partial lipodystrophy?0012599;Hypoinsulinemic hypoglycemia and body hemihypertrophy?0017352	https://raresource.nih.gov/literature/gene/AKT2	208	ENSG00000105221	392	https://pubmed.ncbi.nlm.nih.gov/?term=AKT2	None	None	20269	2137
AKT3	AKT serine/threonine kinase 3	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?0010341;Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2?0018078;Hemimegalencephaly?0002637;AKT3-related overgrowth spectrum?0026576	https://raresource.nih.gov/literature/gene/AKT3	10000	ENSG00000117020	393	https://pubmed.ncbi.nlm.nih.gov/?term=AKT3	None	None	152045	1110
ALAD	aminolevulinate dehydratase	Porphobilinogen synthase deficiency?0016937	https://raresource.nih.gov/literature/gene/ALAD	210	ENSG00000148218	395	https://pubmed.ncbi.nlm.nih.gov/?term=ALAD	None	None	6935	1388
ALAS2	5'-aminolevulinate synthase 2	X-linked sideroblastic anemia 1?0009456;X-linked erythropoietic protoporphyria?0017755	https://raresource.nih.gov/literature/gene/ALAS2	212	ENSG00000158578	397	https://pubmed.ncbi.nlm.nih.gov/?term=ALAS2	None	None	3985	542
ALB	albumin	Congenital analbuminemia?0013056	https://raresource.nih.gov/literature/gene/ALB	213	ENSG00000163631	399	https://pubmed.ncbi.nlm.nih.gov/?term=ALB	None	None	8527	134514
ALDH18A1	aldehyde dehydrogenase 18 family member A1	ALDH18A1-related de Barsy syndrome?0016638;Cutis laxa, autosomal dominant 3?0016143;Autosomal dominant complex spastic paraplegia type 9B?0021866;Cutis laxa, autosomal dominant?0001639;Hereditary spastic paraplegia 9A?0009583;P5CS deficiency?0026056;Autosomal recessive complex spastic paraplegia type 9B?0017770	https://raresource.nih.gov/literature/gene/ALDH18A1	5832	ENSG00000059573	9722	https://pubmed.ncbi.nlm.nih.gov/?term=ALDH18A1	None	None	20042	507
ALDH1A2	aldehyde dehydrogenase 1 family member A2	Diaphragmatic hernia 4, with cardiovascular defects?0026745;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/ALDH1A2	8854	ENSG00000128918	15472	https://pubmed.ncbi.nlm.nih.gov/?term=ALDH1A2	None	None	124642	708
ALDH1A3	aldehyde dehydrogenase 1 family member A3	Nanophthalmia?0016637;Microphthalmia, isolated, with coloboma?0003644;Isolated microphthalmia 8?0024967	https://raresource.nih.gov/literature/gene/ALDH1A3	220	ENSG00000184254	409	https://pubmed.ncbi.nlm.nih.gov/?term=ALDH1A3	None	None	9695	559
ALDH3A2	aldehyde dehydrogenase 3 family member A2	Sjögren-Larsson syndrome?0007654	https://raresource.nih.gov/literature/gene/ALDH3A2	224	ENSG00000072210	403	https://pubmed.ncbi.nlm.nih.gov/?term=ALDH3A2	None	None	7741	429
ALDH4A1	aldehyde dehydrogenase 4 family member A1	Hyperprolinemia type 2?0006710	https://raresource.nih.gov/literature/gene/ALDH4A1	8659	ENSG00000159423	406	https://pubmed.ncbi.nlm.nih.gov/?term=ALDH4A1	None	None	13486	168
ALDH5A1	aldehyde dehydrogenase 5 family member A1	Succinate-semialdehyde dehydrogenase deficiency?0007695	https://raresource.nih.gov/literature/gene/ALDH5A1	7915	ENSG00000112294	408	https://pubmed.ncbi.nlm.nih.gov/?term=ALDH5A1	None	None	19003	368
ALDH6A1	aldehyde dehydrogenase 6 family member A1	Methylmalonate semialdehyde dehydrogenase deficiency?0017322	https://raresource.nih.gov/literature/gene/ALDH6A1	4329	ENSG00000119711	7179	https://pubmed.ncbi.nlm.nih.gov/?term=ALDH6A1	None	None	6289	52
ALDH7A1	aldehyde dehydrogenase 7 family member A1	Pyridoxine-dependent epilepsy?0009298;Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant?0025233	https://raresource.nih.gov/literature/gene/ALDH7A1	501	ENSG00000164904	877	https://pubmed.ncbi.nlm.nih.gov/?term=ALDH7A1	None	None	27205	3917
ALDOA	aldolase, fructose-bisphosphate A	HNSHA due to aldolase A deficiency?0000600	https://raresource.nih.gov/literature/gene/ALDOA	226	ENSG00000149925	414	https://pubmed.ncbi.nlm.nih.gov/?term=ALDOA	None	None	2477	548
ALDOB	aldolase, fructose-bisphosphate B	Hereditary fructosuria?0006622	https://raresource.nih.gov/literature/gene/ALDOB	229	ENSG00000136872	417	https://pubmed.ncbi.nlm.nih.gov/?term=ALDOB	None	None	12619	261
ALG1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	ALG1-congenital disorder of glycosylation?0009838	https://raresource.nih.gov/literature/gene/ALG1	56052	ENSG00000033011	18294	https://pubmed.ncbi.nlm.nih.gov/?term=ALG1	None	None	9831	803
ALG10	ALG10 alpha-1,2-glucosyltransferase	ALG10-congenital disorder of glycosylation?0027283	https://raresource.nih.gov/literature/gene/ALG10	84920	ENSG00000139133	23162	https://pubmed.ncbi.nlm.nih.gov/?term=ALG10	None	None	3163	47
ALG10B	ALG10 alpha-1,2-glucosyltransferase B	Long QT syndrome 2?0003285	https://raresource.nih.gov/literature/gene/ALG10B	144245	ENSG00000175548	31088	https://pubmed.ncbi.nlm.nih.gov/?term=ALG10B	None	None	6131	46
ALG11	ALG11 alpha-1,2-mannosyltransferase	ALG11-congenital disorder of glycosylation?0012396	https://raresource.nih.gov/literature/gene/ALG11	440138	ENSG00000253710	32456	https://pubmed.ncbi.nlm.nih.gov/?term=ALG11	None	None	3507	68
ALG12	ALG12 alpha-1,6-mannosyltransferase	ALG12-congenital disorder of glycosylation?0009833	https://raresource.nih.gov/literature/gene/ALG12	79087	ENSG00000182858	19358	https://pubmed.ncbi.nlm.nih.gov/?term=ALG12	None	None	8164	55
ALG13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	Developmental and epileptic encephalopathy, 36?0012401;Non-syndromic X-linked intellectual disability?0018640	https://raresource.nih.gov/literature/gene/ALG13	79868	ENSG00000101901	30881	https://pubmed.ncbi.nlm.nih.gov/?term=ALG13	None	None	17182	75
ALG14	ALG14 UDP-N-acetylglucosaminyltransferase subunit	Congenital myasthenic syndrome 15?0018453;ALG14-congenital disorder of glycosylation?0026279;Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies?0018529;Myopathy, epilepsy, and progressive cerebral atrophy?0025813	https://raresource.nih.gov/literature/gene/ALG14	199857	ENSG00000172339	28287	https://pubmed.ncbi.nlm.nih.gov/?term=ALG14	None	None	36976	35
ALG2	ALG2 alpha-1,3/1,6-mannosyltransferase	ALG2-congenital disorder of glycosylation?0009836;Congenital myasthenic syndrome 14?0018454	https://raresource.nih.gov/literature/gene/ALG2	85365	ENSG00000119523	23159	https://pubmed.ncbi.nlm.nih.gov/?term=ALG2	None	None	3276	88
ALG3	ALG3 alpha-1,3- mannosyltransferase	ALG3-congenital disorder of glycosylation?0009827	https://raresource.nih.gov/literature/gene/ALG3	10195	ENSG00000214160	23056	https://pubmed.ncbi.nlm.nih.gov/?term=ALG3	None	None	2919	725
ALG5	ALG5 dolichyl-phosphate beta-glucosyltransferase	Polycystic kidney disease 7?0025690	https://raresource.nih.gov/literature/gene/ALG5	29880	ENSG00000120697	20266	https://pubmed.ncbi.nlm.nih.gov/?term=ALG5	None	None	13022	48
ALG6	ALG6 alpha-1,3-glucosyltransferase	ALG6-congenital disorder of glycosylation 1C?0009829	https://raresource.nih.gov/literature/gene/ALG6	29929	ENSG00000088035	23157	https://pubmed.ncbi.nlm.nih.gov/?term=ALG6	None	None	28498	77
ALG8	ALG8 alpha-1,3-glucosyltransferase	Polycystic liver disease 3 with or without kidney cysts?0025967;ALG8 congenital disorder of glycosylation?0009834;Autosomal dominant polycystic liver disease?0009457	https://raresource.nih.gov/literature/gene/ALG8	79053	ENSG00000159063	23161	https://pubmed.ncbi.nlm.nih.gov/?term=ALG8	None	None	12140	101
ALG9	ALG9 alpha-1,2-mannosyltransferase	ALG9-associated autosomal dominant polycystic kidney disease?0026304;Gillessen-Kaesbach-Nishimura syndrome?0015223;ALG9 congenital disorder of glycosylation?0009839	https://raresource.nih.gov/literature/gene/ALG9	79796	ENSG00000086848	15672	https://pubmed.ncbi.nlm.nih.gov/?term=ALG9	None	None	1649	74
ALK	ALK receptor tyrosine kinase	ALK-positive anaplastic large cell lymphoma?0021251	https://raresource.nih.gov/literature/gene/ALK	238	ENSG00000171094	427	https://pubmed.ncbi.nlm.nih.gov/?term=ALK	None	None	278454	13915
ALKBH8	alkB homolog 8, tRNA methyltransferase	Intellectual developmental disorder, autosomal recessive 71?0025744;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/ALKBH8	91801	ENSG00000137760	25189	https://pubmed.ncbi.nlm.nih.gov/?term=ALKBH8	None	None	19019	73
ALMS1	ALMS1 centrosome and basal body associated protein	Alstrom syndrome?0005787	https://raresource.nih.gov/literature/gene/ALMS1	7840	ENSG00000116127	428	https://pubmed.ncbi.nlm.nih.gov/?term=ALMS1	None	None	94102	365
ALOX12B	arachidonate 12-lipoxygenase, 12R type	Autosomal recessive congenital ichthyosis 2?0015187;Congenital nonbullous ichthyosiform erythroderma?0009736;Lamellar ichthyosis?0010803;Self-healing collodion baby?0017303	https://raresource.nih.gov/literature/gene/ALOX12B	242	ENSG00000179477	430	https://pubmed.ncbi.nlm.nih.gov/?term=ALOX12B	None	None	5648	163
ALOXE3	arachidonate epidermal lipoxygenase 3	Autosomal recessive congenital ichthyosis 3?0015393;Congenital nonbullous ichthyosiform erythroderma?0009736;Lamellar ichthyosis?0010803;Self-healing collodion baby?0017303	https://raresource.nih.gov/literature/gene/ALOXE3	59344	ENSG00000179148	13743	https://pubmed.ncbi.nlm.nih.gov/?term=ALOXE3	None	None	8950	134
ALPI	alkaline phosphatase, intestinal	ALPI-related inflammatory bowel disease?0022400	https://raresource.nih.gov/literature/gene/ALPI	248	ENSG00000163295	437	https://pubmed.ncbi.nlm.nih.gov/?term=ALPI	None	None	3608	3615
ALPK1	alpha kinase 1	Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome?0017411	https://raresource.nih.gov/literature/gene/ALPK1	80216	ENSG00000073331	20917	https://pubmed.ncbi.nlm.nih.gov/?term=ALPK1	None	None	53908	209
ALPK3	alpha kinase 3	Cardiomyopathy, familial hypertrophic 27?0025983	https://raresource.nih.gov/literature/gene/ALPK3	57538	ENSG00000136383	17574	https://pubmed.ncbi.nlm.nih.gov/?term=ALPK3	None	None	15907	204
ALPL	alkaline phosphatase, biomineralization associated	Hypophosphatasia?0006734;Adult hypophosphatasia?0027567;Childhood hypophosphatasia?0027568;Infantile hypophosphatasia?0027569;Perinatal lethal hypophosphatasia?0017191;Odontohypophosphatasia?0017194	https://raresource.nih.gov/literature/gene/ALPL	249	ENSG00000162551	438	https://pubmed.ncbi.nlm.nih.gov/?term=ALPL	None	None	29084	438
ALS2	alsin Rho guanine nucleotide exchange factor ALS2	Infantile-onset ascending hereditary spastic paralysis?0004914;Amyotrophic lateral sclerosis type 2, juvenile?0015137;Juvenile primary lateral sclerosis?0004485;Juvenile amyotrophic lateral sclerosis?0011901;ALS2-related motor neuron disease?0026088	https://raresource.nih.gov/literature/gene/ALS2	57679	ENSG00000003393	443	https://pubmed.ncbi.nlm.nih.gov/?term=ALS2	None	None	29849	249
ALX1	ALX homeobox 1	Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome?0012640	https://raresource.nih.gov/literature/gene/ALX1	8092	ENSG00000180318	1494	https://pubmed.ncbi.nlm.nih.gov/?term=ALX1	None	None	6372	156
ALX3	ALX homeobox 3	Frontorhiny?0012642	https://raresource.nih.gov/literature/gene/ALX3	257	ENSG00000156150	449	https://pubmed.ncbi.nlm.nih.gov/?term=ALX3	None	None	5510	75
ALX4	ALX homeobox 4	Frontonasal dysplasia with alopecia and genital anomaly?0012641;Parietal foramina?0016662;Parietal foramina 2?0018053	https://raresource.nih.gov/literature/gene/ALX4	60529	ENSG00000052850	450	https://pubmed.ncbi.nlm.nih.gov/?term=ALX4	None	None	21441	207
AMACR	alpha-methylacyl-CoA racemase	Congenital bile acid synthesis defect 4?0010046;Alpha-methylacyl-CoA racemase deficiency?0015787	https://raresource.nih.gov/literature/gene/AMACR	23600	ENSG00000242110	451	https://pubmed.ncbi.nlm.nih.gov/?term=AMACR	None	None	8402	1084
AMBN	ameloblastin	Amelogenesis imperfecta type 1?0000645;Amelogenesis imperfecta type 1F?0016076	https://raresource.nih.gov/literature/gene/AMBN	258	ENSG00000178522	452	https://pubmed.ncbi.nlm.nih.gov/?term=AMBN	None	None	7346	481
AMELX	amelogenin X-linked	Amelogenesis imperfecta type 2?0008349;Amelogenesis imperfecta type 1E?0009943	https://raresource.nih.gov/literature/gene/AMELX	265	ENSG00000125363	461	https://pubmed.ncbi.nlm.nih.gov/?term=AMELX	None	None	251	408
AMER1	APC membrane recruitment protein 1	Osteopathia striata with cranial sclerosis?0004148	https://raresource.nih.gov/literature/gene/AMER1	139285	ENSG00000184675	26837	https://pubmed.ncbi.nlm.nih.gov/?term=AMER1	None	None	5874	275
AMFR	autocrine motility factor receptor	Spastic paraplegia 89, autosomal recessive?0026808	https://raresource.nih.gov/literature/gene/AMFR	267	ENSG00000159461	463	https://pubmed.ncbi.nlm.nih.gov/?term=AMFR	None	None	18839	10
AMH	anti-Mullerian hormone	Persistent Mullerian duct syndrome?0008435	https://raresource.nih.gov/literature/gene/AMH	268	ENSG00000104899	464	https://pubmed.ncbi.nlm.nih.gov/?term=AMH	None	None	1680	12570
AMHR2	anti-Mullerian hormone receptor type 2	Persistent Mullerian duct syndrome?0008435	https://raresource.nih.gov/literature/gene/AMHR2	269	ENSG00000135409	465	https://pubmed.ncbi.nlm.nih.gov/?term=AMHR2	None	None	3743	470
AMMECR1	AMMECR nuclear protein 1	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis?0024736	https://raresource.nih.gov/literature/gene/AMMECR1	9949	ENSG00000101935	467	https://pubmed.ncbi.nlm.nih.gov/?term=AMMECR1	None	None	32427	20
AMN	amnion associated transmembrane protein	Imerslund-Grasbeck syndrome type 2?0026067;Imerslund-Grasbeck syndrome?0007006	https://raresource.nih.gov/literature/gene/AMN	81693	ENSG00000166126	14604	https://pubmed.ncbi.nlm.nih.gov/?term=AMN	None	None	3510	187
AMOTL1	angiomotin like 1	Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome?0027166	https://raresource.nih.gov/literature/gene/AMOTL1	154810	ENSG00000166025	17811	https://pubmed.ncbi.nlm.nih.gov/?term=AMOTL1	None	None	4962	85
AMPD1	adenosine monophosphate deaminase 1	Muscle AMP deaminase deficiency?0015248	https://raresource.nih.gov/literature/gene/AMPD1	270	ENSG00000116748	468	https://pubmed.ncbi.nlm.nih.gov/?term=AMPD1	None	None	9853	1219
AMPD2	adenosine monophosphate deaminase 2	Pontocerebellar hypoplasia type 9?0017590;Hereditary spastic paraplegia 63?0017658	https://raresource.nih.gov/literature/gene/AMPD2	271	ENSG00000116337	469	https://pubmed.ncbi.nlm.nih.gov/?term=AMPD2	None	None	7219	352
AMPD3	adenosine monophosphate deaminase 3	Adenosine monophosphate deaminase deficiency?0000547	https://raresource.nih.gov/literature/gene/AMPD3	272	ENSG00000133805	470	https://pubmed.ncbi.nlm.nih.gov/?term=AMPD3	None	None	61035	17
AMT	aminomethyltransferase	Infantile glycine encephalopathy?0017333;Neonatal glycine encephalopathy?0017332;Glycine encephalopathy 2?0026967	https://raresource.nih.gov/literature/gene/AMT	275	ENSG00000145020	473	https://pubmed.ncbi.nlm.nih.gov/?term=AMT	None	None	229	506
AMTN	amelotin	Amelogenesis imperfecta, hypocalcification type?0016931;Amelogenesis imperfecta type 3B?0018258	https://raresource.nih.gov/literature/gene/AMTN	401138	ENSG00000187689	33188	https://pubmed.ncbi.nlm.nih.gov/?term=AMTN	None	None	6689	115
ANAPC1	anaphase promoting complex subunit 1	Rothmund-Thomson syndrome type 1?0017134	https://raresource.nih.gov/literature/gene/ANAPC1	64682	ENSG00000153107	19988	https://pubmed.ncbi.nlm.nih.gov/?term=ANAPC1	None	None	47038	115
ANG	angiogenin	Amyotrophic lateral sclerosis type 9?0010498;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/ANG	283	ENSG00000214274	483	https://pubmed.ncbi.nlm.nih.gov/?term=ANG	None	None	3005	22740
ANGPT1	angiopoietin 1	Hereditary angioedema with normal C1inh not related to F12 or PLG variant?0022406;Angioedema, hereditary, 5?0025529	https://raresource.nih.gov/literature/gene/ANGPT1	284	ENSG00000154188	484	https://pubmed.ncbi.nlm.nih.gov/?term=ANGPT1	None	None	91046	3792
ANGPT2	angiopoietin 2	Lymphatic malformation 10?0025374;Non-immune hydrops fetalis?0017580	https://raresource.nih.gov/literature/gene/ANGPT2	285	ENSG00000091879	485	https://pubmed.ncbi.nlm.nih.gov/?term=ANGPT2	None	None	1030	3693
ANGPTL3	angiopoietin like 3	Familial hypobetalipoproteinemia 2?0015376	https://raresource.nih.gov/literature/gene/ANGPTL3	27329	ENSG00000132855	491	https://pubmed.ncbi.nlm.nih.gov/?term=ANGPTL3	None	None	827	853
ANGPTL6	angiopoietin like 6	Intracranial berry aneurysm?0017161	https://raresource.nih.gov/literature/gene/ANGPTL6	83854	ENSG00000130812	23140	https://pubmed.ncbi.nlm.nih.gov/?term=ANGPTL6	None	None	5279	185
ANK1	ankyrin 1	Hereditary spherocytosis type 1?0024621;Hereditary spherocytosis?0006639	https://raresource.nih.gov/literature/gene/ANK1	286	ENSG00000029534	492	https://pubmed.ncbi.nlm.nih.gov/?term=ANK1	None	None	94334	902
ANK2	ankyrin 2	Cardiac arrhythmia, ankyrin-B-related?0013294	https://raresource.nih.gov/literature/gene/ANK2	287	ENSG00000145362	493	https://pubmed.ncbi.nlm.nih.gov/?term=ANK2	None	None	199262	347
ANK3	ankyrin 3	Intellectual disability-hypotonia-spasticity-sleep disorder syndrome?0017541	https://raresource.nih.gov/literature/gene/ANK3	288	ENSG00000151150	494	https://pubmed.ncbi.nlm.nih.gov/?term=ANK3	None	None	255355	484
ANKFY1	ankyrin repeat and FYVE domain containing 1	Familial idiopathic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/ANKFY1	51479	ENSG00000185722	20763	https://pubmed.ncbi.nlm.nih.gov/?term=ANKFY1	None	None	34162	39
ANKH	ANKH inorganic pyrophosphate transport regulator	Craniometaphyseal dysplasia?0015013;Chondrocalcinosis 2?0001292;Craniometaphyseal dysplasia, autosomal dominant?0001581	https://raresource.nih.gov/literature/gene/ANKH	56172	ENSG00000154122	15492	https://pubmed.ncbi.nlm.nih.gov/?term=ANKH	None	None	64283	503
ANKLE2	ankyrin repeat and LEM domain containing 2	Microcephaly 16, primary, autosomal recessive?0016151;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/ANKLE2	23141	ENSG00000176915	29101	https://pubmed.ncbi.nlm.nih.gov/?term=ANKLE2	None	None	15297	34
ANKRD1	ankyrin repeat domain 1	Tetralogy of Fallot?0002245;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/ANKRD1	27063	ENSG00000148677	15819	https://pubmed.ncbi.nlm.nih.gov/?term=ANKRD1	None	None	5191	499
ANKRD11	ankyrin repeat domain containing 11	KBG syndrome?0000082;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/ANKRD11	29123	ENSG00000167522	21316	https://pubmed.ncbi.nlm.nih.gov/?term=ANKRD11	None	None	83591	231
ANKRD26	ankyrin repeat domain containing 26	Thrombocytopenia 2?0005191	https://raresource.nih.gov/literature/gene/ANKRD26	22852	ENSG00000107890	29186	https://pubmed.ncbi.nlm.nih.gov/?term=ANKRD26	None	None	36843	151
ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	Situs inversus?0004883	https://raresource.nih.gov/literature/gene/ANKS3	124401	ENSG00000168096	29422	https://pubmed.ncbi.nlm.nih.gov/?term=ANKS3	None	None	19541	19
ANKS6	ankyrin repeat and sterile alpha motif domain containing 6	Nephronophthisis 16?0018183	https://raresource.nih.gov/literature/gene/ANKS6	203286	ENSG00000165138	26724	https://pubmed.ncbi.nlm.nih.gov/?term=ANKS6	None	None	25424	51
ANLN	anillin, actin binding protein	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Focal segmental glomerulosclerosis 8?0016051	https://raresource.nih.gov/literature/gene/ANLN	54443	ENSG00000011426	14082	https://pubmed.ncbi.nlm.nih.gov/?term=ANLN	None	None	22996	560
ANO1	anoctamin 1	Moyamoya disease 7?0026974	https://raresource.nih.gov/literature/gene/ANO1	55107	ENSG00000131620	21625	https://pubmed.ncbi.nlm.nih.gov/?term=ANO1	None	None	17516	1704
ANO10	anoctamin 10	Autosomal recessive spinocerebellar ataxia 10?0017314	https://raresource.nih.gov/literature/gene/ANO10	55129	ENSG00000160746	25519	https://pubmed.ncbi.nlm.nih.gov/?term=ANO10	None	None	113715	77
ANO3	anoctamin 3	Dystonia 24?0017693	https://raresource.nih.gov/literature/gene/ANO3	63982	ENSG00000134343	14004	https://pubmed.ncbi.nlm.nih.gov/?term=ANO3	None	None	182008	101
ANO5	anoctamin 5	Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome?0027423;Autosomal recessive limb-girdle muscular dystrophy type 2L?0012536;Gnathodiaphyseal dysplasia?0008698;Miyoshi muscular dystrophy 3?0017653	https://raresource.nih.gov/literature/gene/ANO5	203859	ENSG00000171714	27337	https://pubmed.ncbi.nlm.nih.gov/?term=ANO5	None	None	188720	199
ANO6	anoctamin 6	SCOTT SYNDROME?0004777	https://raresource.nih.gov/literature/gene/ANO6	196527	ENSG00000177119	25240	https://pubmed.ncbi.nlm.nih.gov/?term=ANO6	None	None	53381	284
ANOS1	anosmin 1	Hypogonadism with anosmia?0010771;Hypogonadotropic hypogonadism 1 with or without anosmia?0003071	https://raresource.nih.gov/literature/gene/ANOS1	3730	ENSG00000011201	6211	https://pubmed.ncbi.nlm.nih.gov/?term=ANOS1	None	None	35304	615
ANTXR1	ANTXR cell adhesion molecule 1	GAPO syndrome?0000400	https://raresource.nih.gov/literature/gene/ANTXR1	84168	ENSG00000169604	21014	https://pubmed.ncbi.nlm.nih.gov/?term=ANTXR1	None	None	91052	5019
ANTXR2	ANTXR cell adhesion molecule 2	Infantile systemic hyalinosis?0006807;Hyaline fibromatosis syndrome?0022029;Juvenile hyaline fibromatosis?0016583	https://raresource.nih.gov/literature/gene/ANTXR2	118429	ENSG00000163297	21732	https://pubmed.ncbi.nlm.nih.gov/?term=ANTXR2	None	None	91580	314
ANXA11	annexin A11	Inclusion body myopathy and brain white matter abnormalities?0026631;Amyotrophic lateral sclerosis?0005786;Amyotrophic lateral sclerosis type 23?0016262	https://raresource.nih.gov/literature/gene/ANXA11	311	ENSG00000122359	535	https://pubmed.ncbi.nlm.nih.gov/?term=ANXA11	None	None	21364	214
AOPEP	aminopeptidase O (putative)	Dystonia 31?0025566	https://raresource.nih.gov/literature/gene/AOPEP	84909	ENSG00000148120	1361	https://pubmed.ncbi.nlm.nih.gov/?term=AOPEP	None	None	119469	1239
AP1B1	adaptor related protein complex 1 subunit beta 1	Autosomal recessive keratitis-ichthyosis-deafness syndrome?0002946	https://raresource.nih.gov/literature/gene/AP1B1	162	ENSG00000100280	554	https://pubmed.ncbi.nlm.nih.gov/?term=AP1B1	None	None	31023	51
AP1S1	adaptor related protein complex 1 subunit sigma 1	MEDNIK syndrome?0017072	https://raresource.nih.gov/literature/gene/AP1S1	1174	ENSG00000106367	559	https://pubmed.ncbi.nlm.nih.gov/?term=AP1S1	None	None	3546	52
AP1S2	adaptor related protein complex 1 subunit sigma 2	Pettigrew syndrome?0008520;Fried syndrome?0016753	https://raresource.nih.gov/literature/gene/AP1S2	8905	ENSG00000182287	560	https://pubmed.ncbi.nlm.nih.gov/?term=AP1S2	None	None	4787	298
AP1S3	adaptor related protein complex 1 subunit sigma 3	Generalized pustular psoriasis?0026245;Palmoplantar pustulosis?0012820	https://raresource.nih.gov/literature/gene/AP1S3	130340	ENSG00000152056	18971	https://pubmed.ncbi.nlm.nih.gov/?term=AP1S3	None	None	33567	47
AP2M1	adaptor related protein complex 2 subunit mu 1	Intellectual developmental disorder 60 with seizures?0016367	https://raresource.nih.gov/literature/gene/AP2M1	1173	ENSG00000161203	564	https://pubmed.ncbi.nlm.nih.gov/?term=AP2M1	None	None	4107	213
AP2S1	adaptor related protein complex 2 subunit sigma 1	Familial hypocalciuric hypercalcemia 3?0002878	https://raresource.nih.gov/literature/gene/AP2S1	1175	ENSG00000042753	565	https://pubmed.ncbi.nlm.nih.gov/?term=AP2S1	None	None	5363	300
AP3B1	adaptor related protein complex 3 subunit beta 1	Hermansky-Pudlak syndrome 2?0015026	https://raresource.nih.gov/literature/gene/AP3B1	8546	ENSG00000132842	566	https://pubmed.ncbi.nlm.nih.gov/?term=AP3B1	None	None	108856	1305
AP3B2	adaptor related protein complex 3 subunit beta 2	Developmental and epileptic encephalopathy, 48?0016218;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/AP3B2	8120	ENSG00000103723	567	https://pubmed.ncbi.nlm.nih.gov/?term=AP3B2	None	None	14978	38
AP3D1	adaptor related protein complex 3 subunit delta 1	Hermansky-Pudlak syndrome 10?0016180	https://raresource.nih.gov/literature/gene/AP3D1	8943	ENSG00000065000	568	https://pubmed.ncbi.nlm.nih.gov/?term=AP3D1	None	None	22668	47
AP4B1	adaptor related protein complex 4 subunit beta 1	Hereditary spastic paraplegia 47?0015749	https://raresource.nih.gov/literature/gene/AP4B1	10717	ENSG00000134262	572	https://pubmed.ncbi.nlm.nih.gov/?term=AP4B1	None	None	4825	289
AP4E1	adaptor related protein complex 4 subunit epsilon 1	Hereditary spastic paraplegia 51?0013737	https://raresource.nih.gov/literature/gene/AP4E1	23431	ENSG00000081014	573	https://pubmed.ncbi.nlm.nih.gov/?term=AP4E1	None	None	27154	43
AP4M1	adaptor related protein complex 4 subunit mu 1	Hereditary spastic paraplegia 50?0015592	https://raresource.nih.gov/literature/gene/AP4M1	9179	ENSG00000221838	574	https://pubmed.ncbi.nlm.nih.gov/?term=AP4M1	None	None	3113	72
AP4S1	adaptor related protein complex 4 subunit sigma 1	Hereditary spastic paraplegia 52?0015750	https://raresource.nih.gov/literature/gene/AP4S1	11154	ENSG00000100478	575	https://pubmed.ncbi.nlm.nih.gov/?term=AP4S1	None	None	22204	32
AP5Z1	adaptor related protein complex 5 subunit zeta 1	Hereditary spastic paraplegia 48?0017378	https://raresource.nih.gov/literature/gene/AP5Z1	9907	ENSG00000242802	22197	https://pubmed.ncbi.nlm.nih.gov/?term=AP5Z1	None	None	12368	497
APC	APC regulator of WNT signaling pathway	Hepatocellular carcinoma?0016773;Gastric cancer?0007704;Attenuated familial adenomatous polyposis?0008532;Gastric adenocarcinoma and proximal polyposis of the stomach?0017416;Desmoid tumor?0001820;Familial adenomatous polyposis 1?0025282;Desmoid tumor caused by somatic mutation?0026071	https://raresource.nih.gov/literature/gene/APC	324	ENSG00000134982	583	https://pubmed.ncbi.nlm.nih.gov/?term=APC	None	None	77103	20064
APC2	APC regulator of WNT signaling pathway 2	Intellectual developmental disorder, autosomal recessive 74?0016208	https://raresource.nih.gov/literature/gene/APC2	10297	ENSG00000115266	24036	https://pubmed.ncbi.nlm.nih.gov/?term=APC2	None	None	10035	18
APCDD1	APC down-regulated 1	Hypotrichosis simplex?0009170;Hypotrichosis 1?0024806	https://raresource.nih.gov/literature/gene/APCDD1	147495	ENSG00000154856	15718	https://pubmed.ncbi.nlm.nih.gov/?term=APCDD1	None	None	10146	238
APOA1	apolipoprotein A1	Hypoalphalipoproteinemia, primary, 2, intermediate?0026677;Hypoalphalipoproteinemia, primary, 2?0025738;Combined ApoA-I and ApoC-III deficiency?0026076;AApoAI amyloidosis?0019224;Familial amyloid polyneuropathy, Iowa type?0027101	https://raresource.nih.gov/literature/gene/APOA1	335	ENSG00000118137	600	https://pubmed.ncbi.nlm.nih.gov/?term=APOA1	None	None	1456	10908
APOA2	apolipoprotein A2	Apolipoprotein A-II amyloidosis?0020631	https://raresource.nih.gov/literature/gene/APOA2	336	ENSG00000158874	601	https://pubmed.ncbi.nlm.nih.gov/?term=APOA2	None	None	1193	1694
APOA5	apolipoprotein A5	Hypertriglyceridemia 1?0024577;Familial type 5 hyperlipoproteinemia?0006704	https://raresource.nih.gov/literature/gene/APOA5	116519	ENSG00000110243	17288	https://pubmed.ncbi.nlm.nih.gov/?term=APOA5	None	None	1576	987
APOB	apolipoprotein B	Familial hypobetalipoproteinemia 1?0002876;Homozygous familial hypercholesterolemia?0010416	https://raresource.nih.gov/literature/gene/APOB	338	ENSG00000084674	603	https://pubmed.ncbi.nlm.nih.gov/?term=APOB	None	None	21750	16130
APOC2	apolipoprotein C2	Familial apolipoprotein C-II deficiency?0000759	https://raresource.nih.gov/literature/gene/APOC2	344	ENSG00000234906	609	https://pubmed.ncbi.nlm.nih.gov/?term=APOC2	None	None	105	1062
APOC3	apolipoprotein C3	Combined ApoA-I and ApoC-III deficiency?0026076;Apolipoprotein c-III deficiency?0018076;Hyperalphalipoproteinemia?0020230	https://raresource.nih.gov/literature/gene/APOC3	345	ENSG00000110245	610	https://pubmed.ncbi.nlm.nih.gov/?term=APOC3	None	None	2264	1772
APOE	apolipoprotein E	Lipoprotein glomerulopathy?0017504;Familial type 3 hyperlipoproteinemia?0006703;Sea-blue histiocyte syndrome?0008241	https://raresource.nih.gov/literature/gene/APOE	348	ENSG00000130203	613	https://pubmed.ncbi.nlm.nih.gov/?term=APOE	None	None	2685	37572
APOO	apolipoprotein O	X-linked recessive mitochondrial myopathy?0026061	https://raresource.nih.gov/literature/gene/APOO	79135	ENSG00000184831	28727	https://pubmed.ncbi.nlm.nih.gov/?term=APOO	None	None	15603	52
APP	amyloid beta precursor protein	ABeta amyloidosis, Arctic type?0017493;ABetaA21G amyloidosis?0017492;ABeta amyloidosis, dutch type?0016929;Alzheimer disease type 1?0009465;Cerebral amyloid angiopathy, APP-related?0024810;ABetaL34V amyloidosis?0017489;ABeta amyloidosis, Iowa type?0017490;Early-onset autosomal dominant Alzheimer disease?0012798;ABeta amyloidosis, Italian type?0017491	https://raresource.nih.gov/literature/gene/APP	351	ENSG00000142192	620	https://pubmed.ncbi.nlm.nih.gov/?term=APP	None	None	82575	23838
APPL1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	Maturity-onset diabetes of the young type 14?0016128;Maturity onset diabetes mellitus in young?0003697	https://raresource.nih.gov/literature/gene/APPL1	26060	ENSG00000157500	24035	https://pubmed.ncbi.nlm.nih.gov/?term=APPL1	None	None	16102	391
APRT	adenine phosphoribosyltransferase	Adenine phosphoribosyltransferase deficiency?0000546	https://raresource.nih.gov/literature/gene/APRT	353	ENSG00000198931	626	https://pubmed.ncbi.nlm.nih.gov/?term=APRT	None	None	1801	1526
APTX	aprataxin	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia?0009283	https://raresource.nih.gov/literature/gene/APTX	54840	ENSG00000137074	15984	https://pubmed.ncbi.nlm.nih.gov/?term=APTX	None	None	52297	342
AQP2	aquaporin 2	Diabetes insipidus, nephrogenic, autosomal?0015058;Nephrogenic diabetes insipidus?0007178	https://raresource.nih.gov/literature/gene/AQP2	359	ENSG00000167580	634	https://pubmed.ncbi.nlm.nih.gov/?term=AQP2	None	None	2936	2284
AQP5	aquaporin 5	Palmoplantar keratoderma, Bothnian type?0001862	https://raresource.nih.gov/literature/gene/AQP5	362	ENSG00000161798	638	https://pubmed.ncbi.nlm.nih.gov/?term=AQP5	None	None	2065	1439
AR	androgen receptor	Hypospadias 1, X-linked?0018185;Partial androgen insensitivity syndrome?0005692;Kennedy disease?0006818;Androgen resistance syndrome?0005803;Complete androgen insensitivity syndrome?0010597	https://raresource.nih.gov/literature/gene/AR	367	ENSG00000169083	644	https://pubmed.ncbi.nlm.nih.gov/?term=AR	None	None	38138	37329
ARCN1	archain 1	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay?0027128	https://raresource.nih.gov/literature/gene/ARCN1	372	ENSG00000095139	649	https://pubmed.ncbi.nlm.nih.gov/?term=ARCN1	None	None	9010	50
ARF1	ARF GTPase 1	Periventricular nodular heterotopia 8?0016303;Periventricular nodular heterotopia?0012724	https://raresource.nih.gov/literature/gene/ARF1	375	ENSG00000143761	652	https://pubmed.ncbi.nlm.nih.gov/?term=ARF1	None	None	7265	1211
ARF3	ARF GTPase 3	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/ARF3	377	ENSG00000134287	654	https://pubmed.ncbi.nlm.nih.gov/?term=ARF3	None	None	135	519
ARFGEF2	ARF guanine nucleotide exchange factor 2	Periventricular heterotopia with microcephaly, autosomal recessive?0015424;Periventricular nodular heterotopia?0012724	https://raresource.nih.gov/literature/gene/ARFGEF2	10564	ENSG00000124198	15853	https://pubmed.ncbi.nlm.nih.gov/?term=ARFGEF2	None	None	31413	104
ARG1	arginase 1	Arginase deficiency?0005840	https://raresource.nih.gov/literature/gene/ARG1	383	ENSG00000118520	663	https://pubmed.ncbi.nlm.nih.gov/?term=ARG1	None	None	42098	3997
ARHGAP24	Rho GTPase activating protein 24	Familial idiopathic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/ARHGAP24	83478	ENSG00000138639	25361	https://pubmed.ncbi.nlm.nih.gov/?term=ARHGAP24	None	None	190619	2326
ARHGAP26	Rho GTPase activating protein 26	Juvenile myelomonocytic leukemia?0009884	https://raresource.nih.gov/literature/gene/ARHGAP26	23092	ENSG00000145819	17073	https://pubmed.ncbi.nlm.nih.gov/?term=ARHGAP26	None	None	152958	153
ARHGAP31	Rho GTPase activating protein 31	Adams-Oliver syndrome?0005739;Adams-Oliver syndrome 1?0025406	https://raresource.nih.gov/literature/gene/ARHGAP31	57514	ENSG00000031081	29216	https://pubmed.ncbi.nlm.nih.gov/?term=ARHGAP31	None	None	47877	113
ARHGDIA	Rho GDP dissociation inhibitor alpha	Nephrotic syndrome, type 8?0015925;Familial idiopathic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/ARHGDIA	396	ENSG00000141522	678	https://pubmed.ncbi.nlm.nih.gov/?term=ARHGDIA	None	None	3048	484
ARHGEF10	Rho guanine nucleotide exchange factor 10	Autosomal dominant slowed nerve conduction velocity?0016962	https://raresource.nih.gov/literature/gene/ARHGEF10	9639	ENSG00000104728	14103	https://pubmed.ncbi.nlm.nih.gov/?term=ARHGEF10	None	None	77388	76
ARHGEF18	Rho/Rac guanine nucleotide exchange factor 18	Retinitis pigmentosa 78?0016229	https://raresource.nih.gov/literature/gene/ARHGEF18	23370	ENSG00000104880	17090	https://pubmed.ncbi.nlm.nih.gov/?term=ARHGEF18	None	None	32570	48
ARHGEF6	Rac/Cdc42 guanine nucleotide exchange factor 6	Non-syndromic X-linked intellectual disability?0018640	https://raresource.nih.gov/literature/gene/ARHGEF6	9459	ENSG00000129675	685	https://pubmed.ncbi.nlm.nih.gov/?term=ARHGEF6	None	None	18515	88
ARHGEF9	Cdc42 guanine nucleotide exchange factor 9	Developmental and epileptic encephalopathy, 8?0017010	https://raresource.nih.gov/literature/gene/ARHGEF9	23229	ENSG00000131089	14561	https://pubmed.ncbi.nlm.nih.gov/?term=ARHGEF9	None	None	25366	148
ARID1A	AT-rich interaction domain 1A	Intellectual disability, autosomal dominant 14?0015820;Coffin-Siris syndrome?0006124	https://raresource.nih.gov/literature/gene/ARID1A	8289	ENSG00000117713	11110	https://pubmed.ncbi.nlm.nih.gov/?term=ARID1A	None	None	44349	2342
ARID1B	AT-rich interaction domain 1B	Coffin-Siris syndrome 1?0015072;Coffin-Siris syndrome?0006124	https://raresource.nih.gov/literature/gene/ARID1B	57492	ENSG00000049618	18040	https://pubmed.ncbi.nlm.nih.gov/?term=ARID1B	None	None	177504	621
ARID2	AT-rich interaction domain 2	Coffin-Siris syndrome 6?0016254;Coffin-Siris syndrome?0006124	https://raresource.nih.gov/literature/gene/ARID2	196528	ENSG00000189079	18037	https://pubmed.ncbi.nlm.nih.gov/?term=ARID2	None	None	58180	416
ARL13B	ARF like GTPase 13B	Joubert syndrome?0006802;Joubert syndrome 8?0015550	https://raresource.nih.gov/literature/gene/ARL13B	200894	ENSG00000169379	25419	https://pubmed.ncbi.nlm.nih.gov/?term=ARL13B	None	None	30103	243
ARL2	ARF like GTPase 2	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1?0018383	https://raresource.nih.gov/literature/gene/ARL2	402	ENSG00000213465	693	https://pubmed.ncbi.nlm.nih.gov/?term=ARL2	None	None	4155	157
ARL2BP	ARF like GTPase 2 binding protein	Retinitis pigmentosa with or without situs inversus?0015965	https://raresource.nih.gov/literature/gene/ARL2BP	23568	ENSG00000102931	17146	https://pubmed.ncbi.nlm.nih.gov/?term=ARL2BP	None	None	2937	103
ARL3	ARF like GTPase 3	Joubert syndrome?0006802;Joubert syndrome 35?0016297;Retinitis pigmentosa 83?0016298	https://raresource.nih.gov/literature/gene/ARL3	403	ENSG00000138175	694	https://pubmed.ncbi.nlm.nih.gov/?term=ARL3	None	None	15393	144
ARL6	ARF like GTPase 6	ARL6-related ciliopathy?0027579;Bardet-Biedl syndrome?0006866;Retinitis pigmentosa 55?0015677;Bardet-Biedl syndrome 3?0000822;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/ARL6	84100	ENSG00000113966	13210	https://pubmed.ncbi.nlm.nih.gov/?term=ARL6	None	None	13935	94
ARL6IP1	ARL6 interacting reticulophagy regulator 1	Hereditary spastic paraplegia 61?0017656	https://raresource.nih.gov/literature/gene/ARL6IP1	23204	ENSG00000170540	697	https://pubmed.ncbi.nlm.nih.gov/?term=ARL6IP1	None	None	3421	306
ARMC2	armadillo repeat containing 2	Spermatogenic failure 38?0018409	https://raresource.nih.gov/literature/gene/ARMC2	84071	ENSG00000118690	23045	https://pubmed.ncbi.nlm.nih.gov/?term=ARMC2	None	None	46071	14
ARMC5	armadillo repeat containing 5	Cushing syndrome due to macronodular adrenal hyperplasia?0010824;ACTH-independent macronodular adrenal hyperplasia 2?0016034	https://raresource.nih.gov/literature/gene/ARMC5	79798	ENSG00000140691	25781	https://pubmed.ncbi.nlm.nih.gov/?term=ARMC5	None	None	4519	140
ARMC9	armadillo repeat containing 9	Joubert syndrome?0006802;Joubert syndrome 30?0016243	https://raresource.nih.gov/literature/gene/ARMC9	80210	ENSG00000135931	20730	https://pubmed.ncbi.nlm.nih.gov/?term=ARMC9	None	None	67437	232
ARMS2	age-related maculopathy susceptibility 2	Age related macular degeneration 8?0024923	https://raresource.nih.gov/literature/gene/ARMS2	387715	ENSG00000254636	32685	https://pubmed.ncbi.nlm.nih.gov/?term=ARMS2	None	None	1310	522
ARPC4	actin related protein 2/3 complex subunit 4	Developmental delay, language impairment, and ocular abnormalities?0027150	https://raresource.nih.gov/literature/gene/ARPC4	10093	ENSG00000241553	707	https://pubmed.ncbi.nlm.nih.gov/?term=ARPC4	None	None	299	16
ARSA	arylsulfatase A	Metachromatic leukodystrophy, juvenile type?0021329;Metachromatic leukodystrophy, adult type?0021330;Metachromatic leukodystrophy, late infantile form?0021328;Metachromatic leukodystrophy?0003230	https://raresource.nih.gov/literature/gene/ARSA	410	ENSG00000100299	713	https://pubmed.ncbi.nlm.nih.gov/?term=ARSA	None	None	3966	1403
ARSB	arylsulfatase B	Mucopolysaccharidosis type 6, slowly progressing?0021047;Mucopolysaccharidosis type 6, rapidly progressing?0021046;Mucopolysaccharidosis type 6?0007095	https://raresource.nih.gov/literature/gene/ARSB	411	ENSG00000113273	714	https://pubmed.ncbi.nlm.nih.gov/?term=ARSB	None	None	77246	798
ARSG	arylsulfatase G	Usher syndrome, type 4?0025504;Usher syndrome type 3?0005442	https://raresource.nih.gov/literature/gene/ARSG	22901	ENSG00000141337	24102	https://pubmed.ncbi.nlm.nih.gov/?term=ARSG	None	None	53242	81
ARSI	arylsulfatase family member I	Autosomal recessive spastic paraplegia type 66?0021697	https://raresource.nih.gov/literature/gene/ARSI	340075	ENSG00000183876	32521	https://pubmed.ncbi.nlm.nih.gov/?term=ARSI	None	None	16337	73
ARSK	arylsulfatase family member K	Mucopolysaccharidosis, type 10?0025592	https://raresource.nih.gov/literature/gene/ARSK	153642	ENSG00000164291	25239	https://pubmed.ncbi.nlm.nih.gov/?term=ARSK	None	None	15681	212
ARSL	arylsulfatase L	X-linked chondrodysplasia punctata 1?0001296	https://raresource.nih.gov/literature/gene/ARSL	415	ENSG00000157399	719	https://pubmed.ncbi.nlm.nih.gov/?term=ARSL	None	None	8862	115
ARV1	ARV1 homolog, fatty acid homeostasis modulator	Developmental and epileptic encephalopathy, 38?0016175	https://raresource.nih.gov/literature/gene/ARV1	64801	ENSG00000173409	29561	https://pubmed.ncbi.nlm.nih.gov/?term=ARV1	None	None	8896	46
ARX	aristaless related homeobox	Non-syndromic X-linked intellectual disability?0018640;Partington syndrome?0004235;Infantile epileptic dyskinetic encephalopathy?0017582;Corpus callosum agenesis-abnormal genitalia syndrome?0004528;X-linked lissencephaly with abnormal genitalia?0012491;X-linked spasticity-intellectual disability-epilepsy syndrome?0016622;Intellectual disability, X-linked, with or without seizures, ARX-related?0005614;Developmental and epileptic encephalopathy, 1?0015298	https://raresource.nih.gov/literature/gene/ARX	170302	ENSG00000004848	18060	https://pubmed.ncbi.nlm.nih.gov/?term=ARX	None	None	3625	585
ASAH1	N-acylsphingosine amidohydrolase 1	ASAH1-related sphingolipidosis?0026262;Spinal muscular atrophy-progressive myoclonic epilepsy syndrome?0003875;Farber lipogranulomatosis?0006426	https://raresource.nih.gov/literature/gene/ASAH1	427	ENSG00000104763	735	https://pubmed.ncbi.nlm.nih.gov/?term=ASAH1	None	None	15785	3950
ASCC1	activating signal cointegrator 1 complex subunit 1	Prenatal-onset spinal muscular atrophy with congenital bone fractures?0017882;Spinal muscular atrophy with congenital bone fractures 2?0018495	https://raresource.nih.gov/literature/gene/ASCC1	51008	ENSG00000138303	24268	https://pubmed.ncbi.nlm.nih.gov/?term=ASCC1	None	None	51817	4403
ASCC3	activating signal cointegrator 1 complex subunit 3	Intellectual developmental disorder, autosomal recessive 81?0026975	https://raresource.nih.gov/literature/gene/ASCC3	10973	ENSG00000112249	18697	https://pubmed.ncbi.nlm.nih.gov/?term=ASCC3	None	None	128304	81
ASCL1	achaete-scute family bHLH transcription factor 1	Haddad syndrome?0016909	https://raresource.nih.gov/literature/gene/ASCL1	429	ENSG00000139352	738	https://pubmed.ncbi.nlm.nih.gov/?term=ASCL1	None	None	2842	1749
ASH1L	ASH1 like histone lysine methyltransferase	Intellectual disability, autosomal dominant 52?0016472;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/ASH1L	55870	ENSG00000116539	19088	https://pubmed.ncbi.nlm.nih.gov/?term=ASH1L	None	None	91738	342
ASL	argininosuccinate lyase	Argininosuccinate lyase deficiency?0005843	https://raresource.nih.gov/literature/gene/ASL	435	ENSG00000126522	746	https://pubmed.ncbi.nlm.nih.gov/?term=ASL	None	None	8600	903
ASNS	asparagine synthetase (glutamine-hydrolyzing)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome?0017617	https://raresource.nih.gov/literature/gene/ASNS	440	ENSG00000070669	753	https://pubmed.ncbi.nlm.nih.gov/?term=ASNS	None	None	8097	411
ASPA	aspartoacylase	Mild Canavan disease?0017438;Severe Canavan disease?0017437;Spongy degeneration of central nervous system?0005984	https://raresource.nih.gov/literature/gene/ASPA	443	ENSG00000108381	756	https://pubmed.ncbi.nlm.nih.gov/?term=ASPA	None	None	842	1188
ASPH	aspartate beta-hydroxylase	Ehlers-Danlos syndrome, type 4?0002082;Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome?0017688	https://raresource.nih.gov/literature/gene/ASPH	444	ENSG00000198363	757	https://pubmed.ncbi.nlm.nih.gov/?term=ASPH	None	None	74412	435
ASPM	assembly factor for spindle microtubules	Microcephaly 5, primary, autosomal recessive?0015441;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/ASPM	259266	ENSG00000066279	19048	https://pubmed.ncbi.nlm.nih.gov/?term=ASPM	None	None	26239	1202
ASPRV1	aspartic peptidase retroviral like 1	Autosomal dominant lamellar ichthyosis?0009735;Lamellar ichthyosis?0010803	https://raresource.nih.gov/literature/gene/ASPRV1	151516	ENSG00000244617	26321	https://pubmed.ncbi.nlm.nih.gov/?term=ASPRV1	None	None	2417	399
ASPSCR1	ASPSCR1 tether for SLC2A4, UBX domain containing	Alveolar soft part sarcoma?0005654	https://raresource.nih.gov/literature/gene/ASPSCR1	79058	ENSG00000169696	13825	https://pubmed.ncbi.nlm.nih.gov/?term=ASPSCR1	None	None	14052	275
ASS1	argininosuccinate synthase 1	Citrullinemia type I?0006114;Adult-onset citrullinemia type I?0020660;Acute neonatal citrullinemia type I?0020659	https://raresource.nih.gov/literature/gene/ASS1	445	ENSG00000130707	758	https://pubmed.ncbi.nlm.nih.gov/?term=ASS1	None	None	24145	854
ASXL1	ASXL transcriptional regulator 1	Myelodysplastic syndrome?0007132;Bohring-Opitz syndrome?0010140;Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease?0019596;Aggressive systemic mastocytosis?0019597;Acute myeloid leukemia with multilineage dysplasia?0012761	https://raresource.nih.gov/literature/gene/ASXL1	171023	ENSG00000171456	18318	https://pubmed.ncbi.nlm.nih.gov/?term=ASXL1	None	None	34525	1749
ASXL2	ASXL transcriptional regulator 2	Shashi-Pena syndrome?0027359	https://raresource.nih.gov/literature/gene/ASXL2	55252	ENSG00000143970	23805	https://pubmed.ncbi.nlm.nih.gov/?term=ASXL2	None	None	59577	103
ASXL3	ASXL transcriptional regulator 3	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome?0013259	https://raresource.nih.gov/literature/gene/ASXL3	80816	ENSG00000141431	29357	https://pubmed.ncbi.nlm.nih.gov/?term=ASXL3	None	None	45385	136
ATAD1	ATPase family AAA domain containing 1	Hereditary hyperekplexia?0003129;Hyperekplexia 4?0016284	https://raresource.nih.gov/literature/gene/ATAD1	84896	ENSG00000138138	25903	https://pubmed.ncbi.nlm.nih.gov/?term=ATAD1	None	None	32030	706
ATAD3A	ATPase family AAA domain containing 3A	Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation?0018036;Harel-Yoon syndrome?0017915;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal?0018034	https://raresource.nih.gov/literature/gene/ATAD3A	55210	ENSG00000197785	25567	https://pubmed.ncbi.nlm.nih.gov/?term=ATAD3A	None	None	13515	131
ATCAY	ATCAY kinesin light chain interacting caytaxin	Cayman type cerebellar ataxia?0016836	https://raresource.nih.gov/literature/gene/ATCAY	85300	ENSG00000167654	779	https://pubmed.ncbi.nlm.nih.gov/?term=ATCAY	None	None	17654	48
ATF6	activating transcription factor 6	ATF6-related retinopathy?0026222;Cone-rod dystrophy?0010790;Achromatopsia?0015015;Achromatopsia 7?0016129	https://raresource.nih.gov/literature/gene/ATF6	22926	ENSG00000118217	791	https://pubmed.ncbi.nlm.nih.gov/?term=ATF6	None	None	70331	3237
ATG5	autophagy related 5	Spinocerebellar ataxia, autosomal recessive 25?0025786	https://raresource.nih.gov/literature/gene/ATG5	9474	ENSG00000057663	589	https://pubmed.ncbi.nlm.nih.gov/?term=ATG5	None	None	76087	676
ATG7	autophagy related 7	Spinocerebellar ataxia, autosomal recessive 31?0025538	https://raresource.nih.gov/literature/gene/ATG7	10533	ENSG00000197548	16935	https://pubmed.ncbi.nlm.nih.gov/?term=ATG7	None	None	104390	194
ATIC	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	AICA-ribosiduria?0013781	https://raresource.nih.gov/literature/gene/ATIC	471	ENSG00000138363	794	https://pubmed.ncbi.nlm.nih.gov/?term=ATIC	None	None	17556	1003
ATL1	atlastin GTPase 1	Hereditary spastic paraplegia 3A?0005041;Hereditary sensory and autonomic neuropathy type 1?0006635;Neuropathy, hereditary sensory, type 1D?0015695	https://raresource.nih.gov/literature/gene/ATL1	51062	ENSG00000198513	11231	https://pubmed.ncbi.nlm.nih.gov/?term=ATL1	None	None	22165	967
ATL3	atlastin GTPase 3	Neuropathy, hereditary sensory, type 1F?0015995;Hereditary sensory and autonomic neuropathy type 1?0006635	https://raresource.nih.gov/literature/gene/ATL3	25923	ENSG00000184743	24526	https://pubmed.ncbi.nlm.nih.gov/?term=ATL3	None	None	20290	51
ATM	ATM serine/threonine kinase	Familial cancer of breast?0017142;Mantle cell lymphoma?0006969;Familial colorectal cancer type X?0021840;Ataxia-telangiectasia syndrome?0005862;Ataxia - telangiectasia variant?0021597;B-cell chronic lymphocytic leukemia?0006104;ATM-related cancer predisposition?0026410	https://raresource.nih.gov/literature/gene/ATM	472	ENSG00000149311	795	https://pubmed.ncbi.nlm.nih.gov/?term=ATM	None	None	59742	15685
ATN1	atrophin 1	Dentatorubral-pallidoluysian atrophy?0005643	https://raresource.nih.gov/literature/gene/ATN1	1822	ENSG00000111676	3033	https://pubmed.ncbi.nlm.nih.gov/?term=ATN1	None	None	6325	1485
ATOH1	atonal bHLH transcription factor 1	Hearing loss, autosomal dominant 89?0026739	https://raresource.nih.gov/literature/gene/ATOH1	474	ENSG00000172238	797	https://pubmed.ncbi.nlm.nih.gov/?term=ATOH1	None	None	2815	673
ATOH7	atonal bHLH transcription factor 7	Persistent hyperplastic primary vitreous?0016803;Persistent hyperplastic primary vitreous, autosomal recessive?0018167	https://raresource.nih.gov/literature/gene/ATOH7	220202	ENSG00000179774	13907	https://pubmed.ncbi.nlm.nih.gov/?term=ATOH7	None	None	1706	251
ATP11A	ATPase phospholipid transporting 11A	Leukodystrophy, hypomyelinating, 24?0026678;Auditory neuropathy, autosomal dominant 2?0026809;Hearing loss, autosomal dominant 84?0025624;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/ATP11A	23250	ENSG00000068650	13552	https://pubmed.ncbi.nlm.nih.gov/?term=ATP11A	None	None	62252	81
ATP11C	ATPase phospholipid transporting 11C (ATP11C blood group)	X-linked congenital hemolytic anemia?0025994	https://raresource.nih.gov/literature/gene/ATP11C	286410	ENSG00000101974	13554	https://pubmed.ncbi.nlm.nih.gov/?term=ATP11C	None	None	38144	68
ATP13A2	ATPase cation transporting 13A2	Kufor-Rakeb syndrome?0009174;Parkinsonism due to ATP13A2 deficiency?0017427;Autosomal recessive spastic paraplegia type 78?0017952	https://raresource.nih.gov/literature/gene/ATP13A2	23400	ENSG00000159363	30213	https://pubmed.ncbi.nlm.nih.gov/?term=ATP13A2	None	None	13089	411
ATP13A3	ATPase 13A3	Pulmonary hypertension, primary, autosomal recessive?0024700;Heritable pulmonary arterial hypertension?0011914	https://raresource.nih.gov/literature/gene/ATP13A3	79572	ENSG00000133657	24113	https://pubmed.ncbi.nlm.nih.gov/?term=ATP13A3	None	None	36154	46
ATP1A1	ATPase Na+/K+ transporting subunit alpha 1	Hypomagnesemia, seizures, and intellectual disability 2?0025249;Charcot-Marie-tooth disease, axonal, type 2DD?0017959	https://raresource.nih.gov/literature/gene/ATP1A1	476	ENSG00000163399	799	https://pubmed.ncbi.nlm.nih.gov/?term=ATP1A1	None	None	13192	642
ATP1A2	ATPase Na+/K+ transporting subunit alpha 2	Familial or sporadic hemiplegic migraine?0010768;Migraine, familial hemiplegic, 2?0010095;Undetermined early-onset epileptic encephalopathy?0015028;Alternating hemiplegia of childhood 1?0015036;Developmental and epileptic encephalopathy 98?0025571;Alternating hemiplegia of childhood?0000011	https://raresource.nih.gov/literature/gene/ATP1A2	477	ENSG00000018625	800	https://pubmed.ncbi.nlm.nih.gov/?term=ATP1A2	None	None	13259	413
ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome?0001188;Developmental and epileptic encephalopathy 99?0025572;Undetermined early-onset epileptic encephalopathy?0015028;Alternating hemiplegia of childhood 2?0015845;Alternating hemiplegia of childhood?0000011;Dystonia 12?0009628	https://raresource.nih.gov/literature/gene/ATP1A3	478	ENSG00000105409	801	https://pubmed.ncbi.nlm.nih.gov/?term=ATP1A3	None	None	9810	887
ATP2A1	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1	Brody myopathy?0009158	https://raresource.nih.gov/literature/gene/ATP2A1	487	ENSG00000196296	811	https://pubmed.ncbi.nlm.nih.gov/?term=ATP2A1	None	None	9345	443
ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	Acrokeratosis verruciformis of Hopf?0016707;Keratosis follicularis?0006243	https://raresource.nih.gov/literature/gene/ATP2A2	488	ENSG00000174437	812	https://pubmed.ncbi.nlm.nih.gov/?term=ATP2A2	None	None	20394	1800
ATP2B2	ATPase plasma membrane Ca2+ transporting 2	Hearing loss, autosomal dominant 82?0025622	https://raresource.nih.gov/literature/gene/ATP2B2	491	ENSG00000157087	815	https://pubmed.ncbi.nlm.nih.gov/?term=ATP2B2	None	None	139366	771
ATP2B3	ATPase plasma membrane Ca2+ transporting 3	X-linked progressive cerebellar ataxia?0016558;X-linked non progressive cerebellar ataxia?0017439	https://raresource.nih.gov/literature/gene/ATP2B3	492	ENSG00000067842	816	https://pubmed.ncbi.nlm.nih.gov/?term=ATP2B3	None	None	13679	442
ATP2C1	ATPase secretory pathway Ca2+ transporting 1	Familial benign pemphigus?0006559	https://raresource.nih.gov/literature/gene/ATP2C1	27032	ENSG00000017260	13211	https://pubmed.ncbi.nlm.nih.gov/?term=ATP2C1	None	None	61997	456
ATP4A	ATPase H+/K+ transporting subunit alpha	Familial gastric type 1 neuroendocrine tumor?0021932	https://raresource.nih.gov/literature/gene/ATP4A	495	ENSG00000105675	819	https://pubmed.ncbi.nlm.nih.gov/?term=ATP4A	None	None	6565	980
ATP5F1A	ATP synthase F1 subunit alpha	Mitochondrial proton-transporting ATP synthase complex deficiency?0018649;Combined oxidative phosphorylation deficiency 22?0025225;Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A?0026798;Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B?0018667	https://raresource.nih.gov/literature/gene/ATP5F1A	498	ENSG00000152234	823	https://pubmed.ncbi.nlm.nih.gov/?term=ATP5F1A	None	None	11457	150
ATP5F1D	ATP synthase F1 subunit delta	Mitochondrial proton-transporting ATP synthase complex deficiency?0018649;Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5?0018670	https://raresource.nih.gov/literature/gene/ATP5F1D	513	ENSG00000099624	837	https://pubmed.ncbi.nlm.nih.gov/?term=ATP5F1D	None	None	3076	66
ATP5F1E	ATP synthase F1 subunit epsilon	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3?0018666;Mitochondrial proton-transporting ATP synthase complex deficiency?0018649	https://raresource.nih.gov/literature/gene/ATP5F1E	514	ENSG00000124172	838	https://pubmed.ncbi.nlm.nih.gov/?term=ATP5F1E	None	None	2221	879
ATP5MK	ATP synthase membrane subunit k	Mitochondrial proton-transporting ATP synthase complex deficiency?0018649;Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6?0018673	https://raresource.nih.gov/literature/gene/ATP5MK	84833	ENSG00000173915	30889	https://pubmed.ncbi.nlm.nih.gov/?term=ATP5MK	None	None	None	1706
ATP5PO	ATP synthase peripheral stalk subunit OSCP	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7?0026799	https://raresource.nih.gov/literature/gene/ATP5PO	539	ENSG00000241837	850	https://pubmed.ncbi.nlm.nih.gov/?term=ATP5PO	None	None	4087	308
ATP6AP1	ATPase H+ transporting accessory protein 1	Immunodeficiency 47?0024733	https://raresource.nih.gov/literature/gene/ATP6AP1	537	ENSG00000071553	868	https://pubmed.ncbi.nlm.nih.gov/?term=ATP6AP1	None	None	1844	150
ATP6AP2	ATPase H+ transporting accessory protein 2	Syndromic X-linked intellectual disability Hedera type?0016834;Congenital disorder of glycosylation, type IIr?0025491;X-linked parkinsonism-spasticity syndrome?0017567;ATP6AP2-related disorder?0026062	https://raresource.nih.gov/literature/gene/ATP6AP2	10159	ENSG00000182220	18305	https://pubmed.ncbi.nlm.nih.gov/?term=ATP6AP2	None	None	5397	1242
ATP6V0A1	ATPase H+ transporting V0 subunit a1	Developmental and epileptic encephalopathy 104?0025677	https://raresource.nih.gov/literature/gene/ATP6V0A1	535	ENSG00000033627	865	https://pubmed.ncbi.nlm.nih.gov/?term=ATP6V0A1	None	None	17154	1803
ATP6V0A2	ATPase H+ transporting V0 subunit a2	Cutis laxa with osteodystrophy?0001638;Autosomal recessive cutis laxa type 2, classic type?0017546;Wrinkly skin syndrome?0000273	https://raresource.nih.gov/literature/gene/ATP6V0A2	23545	ENSG00000185344	18481	https://pubmed.ncbi.nlm.nih.gov/?term=ATP6V0A2	None	None	14448	1954
ATP6V0A4	ATPase H+ transporting V0 subunit a4	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss?0015350;Autosomal recessive distal renal tubular acidosis?0004666	https://raresource.nih.gov/literature/gene/ATP6V0A4	50617	ENSG00000105929	866	https://pubmed.ncbi.nlm.nih.gov/?term=ATP6V0A4	None	None	38946	674
ATP6V1A	ATPase H+ transporting V1 subunit A	Autosomal recessive cutis laxa type 2D?0025498;Developmental and epileptic encephalopathy 93?0016285;Undetermined early-onset epileptic encephalopathy?0015028;Autosomal recessive cutis laxa type 2, classic type?0017546	https://raresource.nih.gov/literature/gene/ATP6V1A	523	ENSG00000114573	851	https://pubmed.ncbi.nlm.nih.gov/?term=ATP6V1A	None	None	26089	189
ATP6V1B1	ATPase H+ transporting V1 subunit B1	Renal tubular acidosis with progressive nerve deafness?0015229;Autosomal recessive distal renal tubular acidosis?0004666	https://raresource.nih.gov/literature/gene/ATP6V1B1	525	ENSG00000116039	853	https://pubmed.ncbi.nlm.nih.gov/?term=ATP6V1B1	None	None	12892	215
ATP6V1B2	ATPase H+ transporting V1 subunit B2	Autosomal dominant deafness - onychodystrophy syndrome?0004732;Zimmermann-Laband syndrome 2?0016115;Zimmermann-Laband syndrome?0000385	https://raresource.nih.gov/literature/gene/ATP6V1B2	526	ENSG00000147416	854	https://pubmed.ncbi.nlm.nih.gov/?term=ATP6V1B2	None	None	11166	24
ATP6V1E1	ATPase H+ transporting V1 subunit E1	Autosomal recessive cutis laxa type 2C?0025499;Autosomal recessive cutis laxa type 2, classic type?0017546	https://raresource.nih.gov/literature/gene/ATP6V1E1	529	ENSG00000131100	857	https://pubmed.ncbi.nlm.nih.gov/?term=ATP6V1E1	None	None	10927	316
ATP7A	ATPase copper transporting alpha	X-linked distal spinal muscular atrophy type 3?0016957;Menkes kinky-hair syndrome?0001521;Cutis laxa, X-linked?0004017;Aganglionic megacolon?0006660	https://raresource.nih.gov/literature/gene/ATP7A	538	ENSG00000165240	869	https://pubmed.ncbi.nlm.nih.gov/?term=ATP7A	None	None	22939	2083
ATP7B	ATPase copper transporting beta	Wilson disease?0007893	https://raresource.nih.gov/literature/gene/ATP7B	540	ENSG00000123191	870	https://pubmed.ncbi.nlm.nih.gov/?term=ATP7B	None	None	22320	1983
ATP8A2	ATPase phospholipid transporting 8A2	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4?0015930;Dysequilibrium syndrome?0001998	https://raresource.nih.gov/literature/gene/ATP8A2	51761	ENSG00000132932	13533	https://pubmed.ncbi.nlm.nih.gov/?term=ATP8A2	None	None	156890	2319
ATP8B1	ATPase phospholipid transporting 8B1	Cholestasis, intrahepatic, of pregnancy, 1?0015079;Benign recurrent intrahepatic cholestasis type 1?0010028;Progressive familial intrahepatic cholestasis type 1?0009802	https://raresource.nih.gov/literature/gene/ATP8B1	5205	ENSG00000081923	3706	https://pubmed.ncbi.nlm.nih.gov/?term=ATP8B1	None	None	49235	387
ATPAF2	ATP synthase mitochondrial F1 complex assembly factor 2	Mitochondrial proton-transporting ATP synthase complex deficiency?0018649;Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1?0018660	https://raresource.nih.gov/literature/gene/ATPAF2	91647	ENSG00000171953	18802	https://pubmed.ncbi.nlm.nih.gov/?term=ATPAF2	None	None	5511	31
ATR	ATR checkpoint kinase	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome?0017413;Seckel syndrome 1?0015143;Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/ATR	545	ENSG00000175054	882	https://pubmed.ncbi.nlm.nih.gov/?term=ATR	None	None	56626	5642
ATRIP	ATR interacting protein	Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/ATRIP	84126	ENSG00000164053	33499	https://pubmed.ncbi.nlm.nih.gov/?term=ATRIP	None	None	8382	201
ATRX	ATRX chromatin remodeler	Intellectual disability-hypotonic facies syndrome, X-linked, 1?0003521;Alpha thalassemia-X-linked intellectual disability syndrome?0005864;Acquired hemoglobin H disease?0017167	https://raresource.nih.gov/literature/gene/ATRX	546	ENSG00000085224	886	https://pubmed.ncbi.nlm.nih.gov/?term=ATRX	None	None	57289	226
ATXN1	ataxin 1	Spinocerebellar ataxia type 1?0004071	https://raresource.nih.gov/literature/gene/ATXN1	6310	ENSG00000124788	10548	https://pubmed.ncbi.nlm.nih.gov/?term=ATXN1	None	None	172848	1416
ATXN10	ataxin 10	Spinocerebellar ataxia type 10?0010474	https://raresource.nih.gov/literature/gene/ATXN10	25814	ENSG00000130638	10549	https://pubmed.ncbi.nlm.nih.gov/?term=ATXN10	None	None	44421	110
ATXN2	ataxin 2	Spinocerebellar ataxia type 2?0004072;Parkinson disease, late-onset?0017684	https://raresource.nih.gov/literature/gene/ATXN2	6311	ENSG00000204842	10555	https://pubmed.ncbi.nlm.nih.gov/?term=ATXN2	None	None	45318	817
ATXN3	ataxin 3	Machado-Joseph disease type 2?0021049;Azorean disease?0006801;Parkinson disease, late-onset?0017684;Machado-Joseph disease type 3?0021050;Machado-Joseph disease type 1?0021048	https://raresource.nih.gov/literature/gene/ATXN3	4287	ENSG00000066427	7106	https://pubmed.ncbi.nlm.nih.gov/?term=ATXN3	None	None	19179	1180
ATXN7	ataxin 7	Spinocerebellar ataxia 7?0020405	https://raresource.nih.gov/literature/gene/ATXN7	6314	ENSG00000163635	10560	https://pubmed.ncbi.nlm.nih.gov/?term=ATXN7	None	None	56827	390
ATXN8	ataxin 8	Spinocerebellar ataxia type 8?0004956	https://raresource.nih.gov/literature/gene/ATXN8	724066		32925	https://pubmed.ncbi.nlm.nih.gov/?term=ATXN8	None	None	None	29
ATXN8OS	ATXN8 opposite strand lncRNA	Parkinson disease, late-onset?0017684;Spinocerebellar ataxia type 8?0004956	https://raresource.nih.gov/literature/gene/ATXN8OS	6315	ENSG00000230223	10561	https://pubmed.ncbi.nlm.nih.gov/?term=ATXN8OS	None	None	14886	133
AUH	AU RNA binding methylglutaconyl-CoA hydratase	3-methylglutaconic aciduria type 1?0010321	https://raresource.nih.gov/literature/gene/AUH	549	ENSG00000148090	890	https://pubmed.ncbi.nlm.nih.gov/?term=AUH	None	None	54104	92
AURKC	aurora kinase C	Infertility associated with multi-tailed spermatozoa and excessive DNA?0012385	https://raresource.nih.gov/literature/gene/AURKC	6795	ENSG00000105146	11391	https://pubmed.ncbi.nlm.nih.gov/?term=AURKC	None	None	3252	293
AUTS2	activator of transcription and developmental regulator AUTS2	Autism spectrum disorder due to AUTS2 deficiency?0017520	https://raresource.nih.gov/literature/gene/AUTS2	26053	ENSG00000158321	14262	https://pubmed.ncbi.nlm.nih.gov/?term=AUTS2	None	None	419234	205
AVIL	advillin	Familial idiopathic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/AVIL	10677	ENSG00000135407	14188	https://pubmed.ncbi.nlm.nih.gov/?term=AVIL	None	None	5572	140
AVP	arginine vasopressin	Neurohypophyseal diabetes insipidus?0016629	https://raresource.nih.gov/literature/gene/AVP	551	ENSG00000101200	894	https://pubmed.ncbi.nlm.nih.gov/?term=AVP	None	None	2028	24687
AVPR2	arginine vasopressin receptor 2	Nephrogenic syndrome of inappropriate antidiuresis?0010306;Diabetes insipidus, nephrogenic, X-linked?0015289;Nephrogenic diabetes insipidus?0007178	https://raresource.nih.gov/literature/gene/AVPR2	554	ENSG00000126895	897	https://pubmed.ncbi.nlm.nih.gov/?term=AVPR2	None	None	1877	1487
AXIN1	axin 1	Hepatocellular carcinoma?0016773;Caudal duplication?0001164;Adult hepatocellular carcinoma?0006608	https://raresource.nih.gov/literature/gene/AXIN1	8312	ENSG00000103126	903	https://pubmed.ncbi.nlm.nih.gov/?term=AXIN1	None	None	25767	69
AXIN2	axin 2	Oligodontia-cancer predisposition syndrome?0017376;AXIN2-related attenuated familial adenomatous polyposis?0021703	https://raresource.nih.gov/literature/gene/AXIN2	8313	ENSG00000168646	904	https://pubmed.ncbi.nlm.nih.gov/?term=AXIN2	None	None	16593	1497
B2M	beta-2-microglobulin	MHC class I deficiency?0009548;Amyloidosis, hereditary systemic 6?0027103;Variant ABeta2M amyloidosis?0021382;Hypoproteinemia, hypercatabolic?0015185	https://raresource.nih.gov/literature/gene/B2M	567	ENSG00000166710	914	https://pubmed.ncbi.nlm.nih.gov/?term=B2M	None	None	3278	8284
B3GALNT2	beta-1,3-N-acetylgalactosaminyltransferase 2	Muscle eye brain disease?0000156;Walker-Warburg congenital muscular dystrophy?0002599;Autosomal recessive non-syndromic intellectual disability?0018643;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11?0015915	https://raresource.nih.gov/literature/gene/B3GALNT2	148789	ENSG00000162885	28596	https://pubmed.ncbi.nlm.nih.gov/?term=B3GALNT2	None	None	21731	38
B3GALT6	beta-1,3-galactosyltransferase 6	Al-Gazali syndrome?0010054;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures?0024706;B3GALT6-congenital disorder of glycosylation?0027280;Ehlers-Danlos syndrome, spondylodysplastic type, 2?0015947	https://raresource.nih.gov/literature/gene/B3GALT6	126792	ENSG00000176022	17978	https://pubmed.ncbi.nlm.nih.gov/?term=B3GALT6	None	None	2462	67
B3GAT3	beta-1,3-glucuronyltransferase 3	Larsen-like syndrome, B3GAT3 type?0017308	https://raresource.nih.gov/literature/gene/B3GAT3	26229	ENSG00000149541	923	https://pubmed.ncbi.nlm.nih.gov/?term=B3GAT3	None	None	4153	47
B3GLCT	beta 3-glucosyltransferase	Peters plus syndrome?0008422	https://raresource.nih.gov/literature/gene/B3GLCT	145173	ENSG00000187676	20207	https://pubmed.ncbi.nlm.nih.gov/?term=B3GLCT	None	None	37050	77
B4GALNT1	beta-1,4-N-acetyl-galactosaminyltransferase 1	Hereditary spastic paraplegia 26?0009587	https://raresource.nih.gov/literature/gene/B4GALNT1	2583	ENSG00000135454	4117	https://pubmed.ncbi.nlm.nih.gov/?term=B4GALNT1	None	None	3005	262
B4GALT1	beta-1,4-galactosyltransferase 1	B4GALT1-congenital disorder of glycosylation?0009841	https://raresource.nih.gov/literature/gene/B4GALT1	2683	ENSG00000086062	924	https://pubmed.ncbi.nlm.nih.gov/?term=B4GALT1	None	None	25843	355
B4GALT7	beta-1,4-galactosyltransferase 7	Ehlers-Danlos syndrome progeroid type?0009991;Ehlers-Danlos syndrome, spondylodysplastic type, 1?0025209	https://raresource.nih.gov/literature/gene/B4GALT7	11285	ENSG00000027847	930	https://pubmed.ncbi.nlm.nih.gov/?term=B4GALT7	None	None	5776	86
B4GAT1	beta-1,4-glucuronyltransferase 1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13?0015938;Walker-Warburg congenital muscular dystrophy?0002599	https://raresource.nih.gov/literature/gene/B4GAT1	11041	ENSG00000174684	15685	https://pubmed.ncbi.nlm.nih.gov/?term=B4GAT1	None	None	1429	84
B9D1	B9 domain containing 1	Joubert syndrome?0006802;Meckel syndrome, type 9?0015773;Meckel-Gruber syndrome?0003436;Joubert syndrome 27?0016194	https://raresource.nih.gov/literature/gene/B9D1	27077	ENSG00000108641	24123	https://pubmed.ncbi.nlm.nih.gov/?term=B9D1	None	None	9856	81
B9D2	B9 domain containing 2	Joubert syndrome?0006802;Meckel syndrome, type 10?0024937;Meckel-Gruber syndrome?0003436	https://raresource.nih.gov/literature/gene/B9D2	80776	ENSG00000123810	28636	https://pubmed.ncbi.nlm.nih.gov/?term=B9D2	None	None	284	24
BAAT	bile acid-CoA:amino acid N-acyltransferase	Bile acid CoA:amino acid N-acyltransferase deficiency?0026134	https://raresource.nih.gov/literature/gene/BAAT	570	ENSG00000136881	932	https://pubmed.ncbi.nlm.nih.gov/?term=BAAT	None	None	9599	504
BAG3	BAG cochaperone 3	Myofibrillar myopathy 6?0017096;Neuronopathy, distal hereditary motor, autosomal dominant 15?0027432;Familial isolated dilated cardiomyopathy?0027293;Dilated cardiomyopathy 1HH?0015726;Charcot-Marie-tooth disease, axonal, type 2JJ?0027433	https://raresource.nih.gov/literature/gene/BAG3	9531	ENSG00000151929	939	https://pubmed.ncbi.nlm.nih.gov/?term=BAG3	None	None	13974	940
BAG5	BAG cochaperone 5	Cardiomyopathy, dilated, 2F?0025609;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/BAG5	9529	ENSG00000166170	941	https://pubmed.ncbi.nlm.nih.gov/?term=BAG5	None	None	3075	92
BANF1	barrier to autointegration nuclear assembly factor 1	Nestor-Guillermo progeria syndrome?0011008	https://raresource.nih.gov/literature/gene/BANF1	8815	ENSG00000175334	17397	https://pubmed.ncbi.nlm.nih.gov/?term=BANF1	None	None	1533	1027
BAP1	BRCA1 associated deubiquitinase 1	Meningioma?0007015;Uveal melanoma?0008621;BAP1-related tumor predisposition syndrome?0013219	https://raresource.nih.gov/literature/gene/BAP1	8314	ENSG00000163930	950	https://pubmed.ncbi.nlm.nih.gov/?term=BAP1	None	None	6888	2007
BARD1	BRCA1 associated RING domain 1	BARD1-related cancer predisposition?0026407;Familial cancer of breast?0017142	https://raresource.nih.gov/literature/gene/BARD1	580	ENSG00000138376	952	https://pubmed.ncbi.nlm.nih.gov/?term=BARD1	None	None	36072	792
BAX	BCL2 associated X, apoptosis regulator	Acute lymphoid leukemia?0000522	https://raresource.nih.gov/literature/gene/BAX	581	ENSG00000087088	959	https://pubmed.ncbi.nlm.nih.gov/?term=BAX	None	None	4752	54439
BBIP1	BBSome interacting protein 1	Bardet-Biedl syndrome 18?0016042;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBIP1	92482	ENSG00000214413	28093	https://pubmed.ncbi.nlm.nih.gov/?term=BBIP1	None	None	6984	12
BBS1	Bardet-Biedl syndrome 1	BBS1-related ciliopathy?0027245;Bardet-Biedl syndrome 1?0000820;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBS1	582	ENSG00000174483	966	https://pubmed.ncbi.nlm.nih.gov/?term=BBS1	None	None	53	228
BBS10	Bardet-Biedl syndrome 10	Bardet-Biedl syndrome 10?0010209;BBS10-related ciliopathy?0026386;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBS10	79738	ENSG00000179941	26291	https://pubmed.ncbi.nlm.nih.gov/?term=BBS10	None	None	2726	98
BBS12	Bardet-Biedl syndrome 12	Bardet-Biedl syndrome 12?0010211;BBS12-related ciliopathy?0027247;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBS12	166379	ENSG00000181004	26648	https://pubmed.ncbi.nlm.nih.gov/?term=BBS12	None	None	5939	54
BBS2	Bardet-Biedl syndrome 2	BBS2-related ciliopathy?0027250;Bardet-Biedl syndrome 2?0000821;Retinitis pigmentosa 74?0016138;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBS2	583	ENSG00000125124	967	https://pubmed.ncbi.nlm.nih.gov/?term=BBS2	None	None	9664	336
BBS4	Bardet-Biedl syndrome 4	Bardet-Biedl syndrome 4?0000823;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBS4	585	ENSG00000140463	969	https://pubmed.ncbi.nlm.nih.gov/?term=BBS4	None	None	16682	146
BBS5	Bardet-Biedl syndrome 5	BBS5-related ciliopathy?0027249;Bardet-Biedl syndrome 5?0010204;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBS5	129880	ENSG00000163093	970	https://pubmed.ncbi.nlm.nih.gov/?term=BBS5	None	None	52	71
BBS7	Bardet-Biedl syndrome 7	Bardet-Biedl syndrome 7?0010206;Bardet-Biedl syndrome?0006866;BBS7-related ciliopathy?0027244	https://raresource.nih.gov/literature/gene/BBS7	55212	ENSG00000138686	18758	https://pubmed.ncbi.nlm.nih.gov/?term=BBS7	None	None	17430	83
BBS9	Bardet-Biedl syndrome 9	Bardet-Biedl syndrome 9?0010208;BBS9-related ciliopathy?0026385;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBS9	27241	ENSG00000122507	30000	https://pubmed.ncbi.nlm.nih.gov/?term=BBS9	None	None	261891	3752
BCAP31	B cell receptor associated protein 31	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome?0017592	https://raresource.nih.gov/literature/gene/BCAP31	10134	ENSG00000185825	16695	https://pubmed.ncbi.nlm.nih.gov/?term=BCAP31	None	None	5252	258
BCAT2	branched chain amino acid transaminase 2	Hypervalinemia and hyperleucine-isoleucinemia?0026028	https://raresource.nih.gov/literature/gene/BCAT2	587	ENSG00000105552	977	https://pubmed.ncbi.nlm.nih.gov/?term=BCAT2	None	None	6424	313
BCHE	butyrylcholinesterase	Deficiency of butyrylcholinesterase?0007482	https://raresource.nih.gov/literature/gene/BCHE	590	ENSG00000114200	983	https://pubmed.ncbi.nlm.nih.gov/?term=BCHE	None	None	26809	24996
BCKDHA	branched chain keto acid dehydrogenase E1 subunit alpha	Intermediate maple syrup urine disease?0017264;Classical maple syrup urine disease?0017263;Maple syrup urine disease type 1A?0008594;Intermittent maple syrup urine disease?0017265	https://raresource.nih.gov/literature/gene/BCKDHA	593	ENSG00000248098	986	https://pubmed.ncbi.nlm.nih.gov/?term=BCKDHA	None	None	79	174
BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	Intermediate maple syrup urine disease?0017264;Classical maple syrup urine disease?0017263;Maple syrup urine disease type 1B?0008597;Intermittent maple syrup urine disease?0017265	https://raresource.nih.gov/literature/gene/BCKDHB	594	ENSG00000083123	987	https://pubmed.ncbi.nlm.nih.gov/?term=BCKDHB	None	None	91400	11
BCKDK	branched chain keto acid dehydrogenase kinase	Branched-chain keto acid dehydrogenase kinase deficiency?0017389	https://raresource.nih.gov/literature/gene/BCKDK	10295	ENSG00000103507	16902	https://pubmed.ncbi.nlm.nih.gov/?term=BCKDK	None	None	3728	89
BCL10	BCL10 immune signaling adaptor	Germ cell tumor of testis?0013047;Lymphoma, non-Hodgkin, familial?0024804;Mesothelioma, malignant?0007026;Immunodeficiency 37?0024994;Mucosa-associated lymphoma?0006485	https://raresource.nih.gov/literature/gene/BCL10	8915	ENSG00000142867	989	https://pubmed.ncbi.nlm.nih.gov/?term=BCL10	None	None	6219	723
BCL11A	BCL11 transcription factor A	Hereditary persistence of fetal hemoglobin-intellectual disability syndrome?0022458	https://raresource.nih.gov/literature/gene/BCL11A	53335	ENSG00000119866	13221	https://pubmed.ncbi.nlm.nih.gov/?term=BCL11A	None	None	56904	851
BCL11B	BCL11 transcription factor B	Immunodeficiency 49?0025043;Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities?0027142	https://raresource.nih.gov/literature/gene/BCL11B	64919	ENSG00000127152	13222	https://pubmed.ncbi.nlm.nih.gov/?term=BCL11B	None	None	36411	931
BCL6	BCL6 transcription repressor	Primary mediastinal large B-cell lymphoma?0019589;Intravascular large B-cell lymphoma?0019590	https://raresource.nih.gov/literature/gene/BCL6	604	ENSG00000113916	1001	https://pubmed.ncbi.nlm.nih.gov/?term=BCL6	None	None	12586	4518
BCO1	beta-carotene oxygenase 1	Hereditary hypercarotenemia and vitamin A deficiency?0017090	https://raresource.nih.gov/literature/gene/BCO1	53630	ENSG00000135697	13815	https://pubmed.ncbi.nlm.nih.gov/?term=BCO1	None	None	19402	206
BCOR	BCL6 corepressor	Microphthalmia, syndromic 1?0015304;Clear cell sarcoma of kidney?0021905;Lenz microphthalmia syndrome?0000087;Oculofaciocardiodental syndrome?0004628	https://raresource.nih.gov/literature/gene/BCOR	54880	ENSG00000183337	20893	https://pubmed.ncbi.nlm.nih.gov/?term=BCOR	None	None	27719	856
BCORL1	BCL6 corepressor like 1	Shukla-Vernon syndrome?0018511	https://raresource.nih.gov/literature/gene/BCORL1	63035	ENSG00000085185	25657	https://pubmed.ncbi.nlm.nih.gov/?term=BCORL1	None	None	15600	152
BCR	BCR activator of RhoGEF and GTPase	Acute lymphoid leukemia?0000522;Chronic myelogenous leukemia, BCR-ABL1 positive?0006105	https://raresource.nih.gov/literature/gene/BCR	613	ENSG00000186716	1014	https://pubmed.ncbi.nlm.nih.gov/?term=BCR	None	None	57587	19119
BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	Mitochondrial complex III deficiency?0008295;GRACILE syndrome?0000001;Mitochondrial complex III deficiency nuclear type 1?0015056;Pili torti-deafness syndrome?0000022;Renal tubulopathy-encephalopathy-liver failure syndrome?0017231	https://raresource.nih.gov/literature/gene/BCS1L	617	ENSG00000074582	1020	https://pubmed.ncbi.nlm.nih.gov/?term=BCS1L	None	None	1647	270
BDP1	BDP1 general transcription factor IIIB subunit	Hearing loss, autosomal recessive?0018117;Hearing loss, autosomal recessive 112?0018377	https://raresource.nih.gov/literature/gene/BDP1	55814	ENSG00000145734	13652	https://pubmed.ncbi.nlm.nih.gov/?term=BDP1	None	None	46677	383
BEAN1	brain expressed associated with NEDD4 1	Spinocerebellar ataxia type 31?0009975	https://raresource.nih.gov/literature/gene/BEAN1	146227	ENSG00000166546	24160	https://pubmed.ncbi.nlm.nih.gov/?term=BEAN1	None	None	19099	134
BEST1	bestrophin 1	Nanophthalmia?0016637;Retinitis pigmentosa 50?0015629;Autosomal dominant vitreoretinochoroidopathy?0005507;Vitelliform macular dystrophy 2?0000182;BEST1-related vitreoretinochoroidopathy?0026389;BEST1-related recessive retinopathy?0026388;MRCS syndrome?0017255;Autosomal recessive bestrophinopathy?0010301;BEST1-related dominant retinopathy?0026387;Adult-onset foveomacular vitelliform dystrophy?0010909	https://raresource.nih.gov/literature/gene/BEST1	7439	ENSG00000167995	12703	https://pubmed.ncbi.nlm.nih.gov/?term=BEST1	None	None	6607	646
BET1	Bet1 golgi vesicular membrane trafficking protein	Muscular dystrophy, congenital, with rapid progression?0024686	https://raresource.nih.gov/literature/gene/BET1	10282	ENSG00000105829	14562	https://pubmed.ncbi.nlm.nih.gov/?term=BET1	None	None	7330	74
BFSP1	beaded filament structural protein 1	Cataract 33?0018236;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/BFSP1	631	ENSG00000125864	1040	https://pubmed.ncbi.nlm.nih.gov/?term=BFSP1	None	None	18740	141
BFSP2	beaded filament structural protein 2	Early-onset sutural cataract?0016885;Early-onset lamellar cataract?0013155;Pulverulent cataract?0016884	https://raresource.nih.gov/literature/gene/BFSP2	8419	ENSG00000170819	1041	https://pubmed.ncbi.nlm.nih.gov/?term=BFSP2	None	None	38443	437
BGN	biglycan	Meester-Loeys syndrome?0024735;X-linked severe syndromic thoracic aortic aneurysm and dissection?0022490;X-linked spondyloepimetaphyseal dysplasia?0004979;Ehlers-Danlos syndrome, type 4?0002082	https://raresource.nih.gov/literature/gene/BGN	633	ENSG00000182492	1044	https://pubmed.ncbi.nlm.nih.gov/?term=BGN	None	None	3605	2232
BHLHA9	basic helix-loop-helix family member a9	Mesoaxial synostotic syndactyly with phalangeal reduction?0010590	https://raresource.nih.gov/literature/gene/BHLHA9	727857	ENSG00000205899	35126	https://pubmed.ncbi.nlm.nih.gov/?term=BHLHA9	None	None	1552	33
BICD2	BICD cargo adaptor 2	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures?0013222;Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant?0025715	https://raresource.nih.gov/literature/gene/BICD2	23299	ENSG00000185963	17208	https://pubmed.ncbi.nlm.nih.gov/?term=BICD2	None	None	21830	171
BICRA	BRD4 interacting chromatin remodeling complex associated protein	Coffin-Siris syndrome 12?0016443	https://raresource.nih.gov/literature/gene/BICRA	29998	ENSG00000063169	4332	https://pubmed.ncbi.nlm.nih.gov/?term=BICRA	None	None	39001	42
BIN1	bridging integrator 1	Myopathy, centronuclear, 2?0015208;Autosomal recessive centronuclear myopathy?0012718	https://raresource.nih.gov/literature/gene/BIN1	274	ENSG00000136717	1052	https://pubmed.ncbi.nlm.nih.gov/?term=BIN1	None	None	25613	710
BLK	BLK proto-oncogene, Src family tyrosine kinase	Maturity-onset diabetes of the young type 11?0015653;Maturity onset diabetes mellitus in young?0003697	https://raresource.nih.gov/literature/gene/BLK	640	ENSG00000136573	1057	https://pubmed.ncbi.nlm.nih.gov/?term=BLK	None	None	39827	429
BLM	BLM RecQ like helicase	Bloom syndrome?0000915	https://raresource.nih.gov/literature/gene/BLM	641	ENSG00000197299	1058	https://pubmed.ncbi.nlm.nih.gov/?term=BLM	None	None	36305	1504
BLNK	B cell linker	Agammaglobulinemia 4, autosomal recessive?0015674;Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/BLNK	29760	ENSG00000095585	14211	https://pubmed.ncbi.nlm.nih.gov/?term=BLNK	None	None	30606	641
BLOC1S3	biogenesis of lysosomal organelles complex 1 subunit 3	Hermansky-Pudlak syndrome 8?0018337	https://raresource.nih.gov/literature/gene/BLOC1S3	388552	ENSG00000189114	20914	https://pubmed.ncbi.nlm.nih.gov/?term=BLOC1S3	None	None	14383	607
BLOC1S5	biogenesis of lysosomal organelles complex 1 subunit 5	Hermansky-Pudlak syndrome 11?0018339	https://raresource.nih.gov/literature/gene/BLOC1S5	63915	ENSG00000188428	18561	https://pubmed.ncbi.nlm.nih.gov/?term=BLOC1S5	None	None	20991	1906
BLOC1S6	biogenesis of lysosomal organelles complex 1 subunit 6	Hermansky-Pudlak syndrome 9?0018338	https://raresource.nih.gov/literature/gene/BLOC1S6	26258	ENSG00000104164	8549	https://pubmed.ncbi.nlm.nih.gov/?term=BLOC1S6	None	None	6584	4317
BLTP1	bridge-like lipid transfer protein family member 1	Alkuraya-Kucinskas syndrome?0018022	https://raresource.nih.gov/literature/gene/BLTP1	84162	ENSG00000138688	26953	https://pubmed.ncbi.nlm.nih.gov/?term=BLTP1	None	None	None	103
BLVRA	biliverdin reductase A	Hyperbiliverdinemia?0017279	https://raresource.nih.gov/literature/gene/BLVRA	644	ENSG00000106605	1062	https://pubmed.ncbi.nlm.nih.gov/?term=BLVRA	None	None	17444	263
BMP1	bone morphogenetic protein 1	High bone mass osteogenesis imperfecta?0021366;Osteogenesis imperfecta type 13?0015856	https://raresource.nih.gov/literature/gene/BMP1	649	ENSG00000168487	1067	https://pubmed.ncbi.nlm.nih.gov/?term=BMP1	None	None	20621	1273
BMP15	bone morphogenetic protein 15	46 XX gonadal dysgenesis?0005671;Ovarian dysgenesis 2?0018040	https://raresource.nih.gov/literature/gene/BMP15	9210	ENSG00000130385	1068	https://pubmed.ncbi.nlm.nih.gov/?term=BMP15	None	None	2053	110
BMP2	bone morphogenetic protein 2	Type A2 brachydactyly?0000979	https://raresource.nih.gov/literature/gene/BMP2	650	ENSG00000125845	1069	https://pubmed.ncbi.nlm.nih.gov/?term=BMP2	None	None	5391	8537
BMP4	bone morphogenetic protein 4	Orofacial cleft 11?0018303;Microphthalmia with brain and digit anomalies?0003645;Stickler syndrome?0010782;Unilateral renal agenesis?0016804	https://raresource.nih.gov/literature/gene/BMP4	652	ENSG00000125378	1071	https://pubmed.ncbi.nlm.nih.gov/?term=BMP4	None	None	3227	4856
BMPER	BMP binding endothelial regulator	Diaphanospondylodysostosis?0016674	https://raresource.nih.gov/literature/gene/BMPER	168667	ENSG00000164619	24154	https://pubmed.ncbi.nlm.nih.gov/?term=BMPER	None	None	89902	237
BMPR1A	bone morphogenetic protein receptor type 1A	Familial colorectal cancer type X?0021840;Hereditary mixed polyposis syndrome?0016981;Polyposis syndrome, hereditary mixed, 2?0018276;Juvenile polyposis syndrome?0003065	https://raresource.nih.gov/literature/gene/BMPR1A	657	ENSG00000107779	1076	https://pubmed.ncbi.nlm.nih.gov/?term=BMPR1A	None	None	87866	1011
BMPR1B	bone morphogenetic protein receptor type 1B	Type A2 brachydactyly?0000979;Acromesomelic dysplasia 3?0010077;Brachydactyly type A1D?0016164	https://raresource.nih.gov/literature/gene/BMPR1B	658	ENSG00000138696	1077	https://pubmed.ncbi.nlm.nih.gov/?term=BMPR1B	None	None	157663	625
BMPR2	bone morphogenetic protein receptor type 2	Pulmonary venoocclusive disease 1?0025220;Pulmonary hypertension, primary, 1?0025415;Heritable pulmonary arterial hypertension?0011914	https://raresource.nih.gov/literature/gene/BMPR2	659	ENSG00000204217	1078	https://pubmed.ncbi.nlm.nih.gov/?term=BMPR2	None	None	80996	1494
BMS1	BMS1 ribosome biogenesis factor	Aplasia cutis congenita?0005835	https://raresource.nih.gov/literature/gene/BMS1	9790	ENSG00000165733	23505	https://pubmed.ncbi.nlm.nih.gov/?term=BMS1	None	None	20865	3260
BNC1	basonuclin zinc finger protein 1	Premature ovarian failure 16?0018044;46 XX gonadal dysgenesis?0005671	https://raresource.nih.gov/literature/gene/BNC1	646	ENSG00000169594	1081	https://pubmed.ncbi.nlm.nih.gov/?term=BNC1	None	None	10851	175
BNC2	basonuclin zinc finger protein 2	Congenital posterior urethral valve?0007439	https://raresource.nih.gov/literature/gene/BNC2	54796	ENSG00000173068	30988	https://pubmed.ncbi.nlm.nih.gov/?term=BNC2	None	None	204636	123
BOLA3	bolA family member 3	Multiple mitochondrial dysfunctions syndrome 2?0017662	https://raresource.nih.gov/literature/gene/BOLA3	388962	ENSG00000163170	24415	https://pubmed.ncbi.nlm.nih.gov/?term=BOLA3	None	None	5933	68
BPGM	bisphosphoglycerate mutase	Autosomal recessive secondary polycythemia not associated with VHL gene?0020658;Deficiency of bisphosphoglycerate mutase?0001874	https://raresource.nih.gov/literature/gene/BPGM	669	ENSG00000172331	1093	https://pubmed.ncbi.nlm.nih.gov/?term=BPGM	None	None	12290	184
BPNT2	3'(2'), 5'-bisphosphate nucleotidase 2	Chondrodysplasia with joint dislocations, gPAPP type?0011009	https://raresource.nih.gov/literature/gene/BPNT2	54928	ENSG00000104331	26019	https://pubmed.ncbi.nlm.nih.gov/?term=BPNT2	None	None	None	102
BPTF	bromodomain PHD finger transcription factor	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies?0018513	https://raresource.nih.gov/literature/gene/BPTF	2186	ENSG00000171634	3581	https://pubmed.ncbi.nlm.nih.gov/?term=BPTF	None	None	59677	243
BRAF	B-Raf proto-oncogene, serine/threonine kinase	Cardio-facio-cutaneous syndrome?0009146;Hairy cell leukemia?0006560;Tetralogy of Fallot?0002245;Pilomyxoid astrocytoma?0020710;Noonan syndrome 1?0007223;Langerhans cell histiocytosis?0006858;Syringocystadenoma papilliferum?0005100;LEOPARD syndrome 3?0015694;Differentiated thyroid carcinoma?0012027;Craniopharyngioma?0010486;Noonan syndrome with multiple lentigines?0001100;Noonan syndrome?0010955;Cardiofaciocutaneous syndrome 1?0024539;Noonan syndrome 7?0015693	https://raresource.nih.gov/literature/gene/BRAF	673	ENSG00000157764	1097	https://pubmed.ncbi.nlm.nih.gov/?term=BRAF	None	None	86169	24202
BRAT1	BRCA1 associated ATM activator 1	Neonatal-onset encephalopathy with rigidity and seizures?0017718	https://raresource.nih.gov/literature/gene/BRAT1	221927	ENSG00000106009	21701	https://pubmed.ncbi.nlm.nih.gov/?term=BRAT1	None	None	11638	64
BRCA1	BRCA1 DNA repair associated	Fanconi anemia, complementation group S?0016264;Familial cancer of breast?0017142;Fanconi anemia?0006425;Hereditary breast ovarian cancer syndrome?0015010;BRCA1-related cancer predisposition?0026408;Cholangiocarcinoma?0009304	https://raresource.nih.gov/literature/gene/BRCA1	672	ENSG00000012048	1100	https://pubmed.ncbi.nlm.nih.gov/?term=BRCA1	None	None	40942	21147
BRCA2	BRCA2 DNA repair associated	Medulloblastoma?0007005;Familial prostate cancer?0027144;Familial cancer of breast?0017142;Familial colorectal cancer type X?0021840;Fanconi anemia complementation group D1?0017449;Fanconi anemia?0006425;BRCA2-related cancer predisposition?0026409;Hereditary breast ovarian cancer syndrome?0015010;Cholangiocarcinoma?0009304;Wilms tumor 1?0015124	https://raresource.nih.gov/literature/gene/BRCA2	675	ENSG00000139618	1101	https://pubmed.ncbi.nlm.nih.gov/?term=BRCA2	None	None	38726	12501
BRD4	bromodomain containing 4	Cornelia de Lange syndrome 6?0026892;De Lange syndrome?0010109	https://raresource.nih.gov/literature/gene/BRD4	23476	ENSG00000141867	13575	https://pubmed.ncbi.nlm.nih.gov/?term=BRD4	None	None	41493	5022
BRF1	BRF1 general transcription factor IIIB subunit	Cerebellar-facial-dental syndrome?0017761	https://raresource.nih.gov/literature/gene/BRF1	2972	ENSG00000185024	11551	https://pubmed.ncbi.nlm.nih.gov/?term=BRF1	None	None	26939	238
BRIP1	BRCA1 interacting DNA helicase 1	Fanconi anemia complementation group J?0015449;Fanconi anemia?0006425;Familial cancer of breast?0017142	https://raresource.nih.gov/literature/gene/BRIP1	83990	ENSG00000136492	20473	https://pubmed.ncbi.nlm.nih.gov/?term=BRIP1	None	None	60619	2339
BRSK2	BR serine/threonine kinase 2	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/BRSK2	9024	ENSG00000174672	11405	https://pubmed.ncbi.nlm.nih.gov/?term=BRSK2	None	None	36444	273
BRWD1	bromodomain and WD repeat domain containing 1	Ciliary dyskinesia, primary, 51?0026820	https://raresource.nih.gov/literature/gene/BRWD1	54014	ENSG00000185658	12760	https://pubmed.ncbi.nlm.nih.gov/?term=BRWD1	None	None	39341	36
BRWD3	bromodomain and WD repeat domain containing 3	Intellectual disability, X-linked 93?0024722	https://raresource.nih.gov/literature/gene/BRWD3	254065	ENSG00000165288	17342	https://pubmed.ncbi.nlm.nih.gov/?term=BRWD3	None	None	27328	39
BSCL2	BSCL2 lipid droplet biogenesis associated, seipin	Neuronopathy, distal hereditary motor, type 5?0016955;Severe neurodegenerative syndrome with lipodystrophy?0017552;Congenital generalized lipodystrophy type 2?0010212;Neuronopathy, distal hereditary motor, type 5C?0018268;Hereditary spastic paraplegia 17?0004219	https://raresource.nih.gov/literature/gene/BSCL2	26580	ENSG00000168000	15832	https://pubmed.ncbi.nlm.nih.gov/?term=BSCL2	None	None	9136	516
BSND	barttin CLCNK type accessory subunit beta	Hearing loss, autosomal recessive?0018117;Bartter syndrome type 4?0010508;Bartter disease type 4A?0015348	https://raresource.nih.gov/literature/gene/BSND	7809	ENSG00000162399	16512	https://pubmed.ncbi.nlm.nih.gov/?term=BSND	None	None	8167	225
BTD	biotinidase	Biotinidase deficiency?0000894	https://raresource.nih.gov/literature/gene/BTD	686	ENSG00000169814	1122	https://pubmed.ncbi.nlm.nih.gov/?term=BTD	None	None	26246	770
BTG4	BTG anti-proliferation factor 4	Oocyte maturation defect 8?0018498	https://raresource.nih.gov/literature/gene/BTG4	54766	ENSG00000137707	13862	https://pubmed.ncbi.nlm.nih.gov/?term=BTG4	None	None	13777	73
BTK	Bruton tyrosine kinase	X-linked agammaglobulinemia with growth hormone deficiency?0003921;X-linked agammaglobulinemia?0001033;Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia?0016538	https://raresource.nih.gov/literature/gene/BTK	695	ENSG00000010671	1133	https://pubmed.ncbi.nlm.nih.gov/?term=BTK	None	None	8127	8956
BUB1	BUB1 mitotic checkpoint serine/threonine kinase	Microcephaly 30, primary, autosomal recessive?0026708;Mosaic variegated aneuploidy syndrome?0003007	https://raresource.nih.gov/literature/gene/BUB1	699	ENSG00000169679	1148	https://pubmed.ncbi.nlm.nih.gov/?term=BUB1	None	None	16254	1035
BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	Mosaic variegated aneuploidy syndrome?0003007;Mosaic variegated aneuploidy syndrome 1?0024694	https://raresource.nih.gov/literature/gene/BUB1B	701	ENSG00000156970	1149	https://pubmed.ncbi.nlm.nih.gov/?term=BUB1B	None	None	20798	1264
BUB3	BUB3 mitotic checkpoint protein	Mosaic variegated aneuploidy syndrome?0003007	https://raresource.nih.gov/literature/gene/BUB3	9184	ENSG00000154473	1151	https://pubmed.ncbi.nlm.nih.gov/?term=BUB3	None	None	6662	357
BUD13	BUD13 homolog	Achalasia-progeroid syndrome?0027387	https://raresource.nih.gov/literature/gene/BUD13	84811	ENSG00000137656	28199	https://pubmed.ncbi.nlm.nih.gov/?term=BUD13	None	None	2412	77
C10orf71	chromosome 10 open reading frame 71	Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/C10orf71	118461	ENSG00000177354	26973	https://pubmed.ncbi.nlm.nih.gov/?term=C10orf71	None	None	6765	14
C12orf57	chromosome 12 open reading frame 57	Temtamy syndrome?0005688	https://raresource.nih.gov/literature/gene/C12orf57	113246	ENSG00000111678	29521	https://pubmed.ncbi.nlm.nih.gov/?term=C12orf57	None	None	2029	114
C14orf39	chromosome 14 open reading frame 39	Premature ovarian failure 18?0025666;Spermatogenic failure 52?0016436	https://raresource.nih.gov/literature/gene/C14orf39	317761	ENSG00000179008	19849	https://pubmed.ncbi.nlm.nih.gov/?term=C14orf39	None	None	14570	22
C19orf12	chromosome 19 open reading frame 12	Neurodegeneration with brain iron accumulation 4?0012569;Hereditary spastic paraplegia 43?0017473	https://raresource.nih.gov/literature/gene/C19orf12	83636	ENSG00000131943	25443	https://pubmed.ncbi.nlm.nih.gov/?term=C19orf12	None	None	6818	111
C1GALT1C1	C1GALT1 specific chaperone 1	Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature?0026853	https://raresource.nih.gov/literature/gene/C1GALT1C1	29071	ENSG00000171155	24338	https://pubmed.ncbi.nlm.nih.gov/?term=C1GALT1C1	None	None	1661	161
C1QA	complement C1q A chain	C1Q deficiency 1?0026959;Systemic lupus erythematosus related to C1QA?0027605;Immunodeficiency due to a classical component pathway complement deficiency?0015025	https://raresource.nih.gov/literature/gene/C1QA	712	ENSG00000173372	1241	https://pubmed.ncbi.nlm.nih.gov/?term=C1QA	None	None	2729	419
C1QB	complement C1q B chain	C1Q deficiency 2?0026963;Immunodeficiency due to a classical component pathway complement deficiency?0015025	https://raresource.nih.gov/literature/gene/C1QB	713	ENSG00000173369	1242	https://pubmed.ncbi.nlm.nih.gov/?term=C1QB	None	None	4654	34
C1QBP	complement C1q binding protein	Combined oxidative phosphorylation deficiency 33?0025959	https://raresource.nih.gov/literature/gene/C1QBP	708	ENSG00000108561	1243	https://pubmed.ncbi.nlm.nih.gov/?term=C1QBP	None	None	2512	1274
C1QC	complement C1q C chain	C1Q deficiency 3?0026964;Immunodeficiency due to a classical component pathway complement deficiency?0015025	https://raresource.nih.gov/literature/gene/C1QC	714	ENSG00000159189	1245	https://pubmed.ncbi.nlm.nih.gov/?term=C1QC	None	None	3293	247
C1QTNF5	C1q and TNF related 5	Late-onset retinal degeneration?0004357	https://raresource.nih.gov/literature/gene/C1QTNF5	114902	ENSG00000223953	14344	https://pubmed.ncbi.nlm.nih.gov/?term=C1QTNF5	None	None	488	285
C1R	complement C1r	Immunodeficiency due to a classical component pathway complement deficiency?0015025;Ehlers-Danlos syndrome, periodontitis type?0012474;Ehlers-Danlos syndrome, periodontal type 1?0025210	https://raresource.nih.gov/literature/gene/C1R	715	ENSG00000159403	1246	https://pubmed.ncbi.nlm.nih.gov/?term=C1R	None	None	4529	959
C1S	complement C1s	Immunodeficiency due to a classical component pathway complement deficiency?0015025;Ehlers-Danlos syndrome, periodontal type 2?0016209;Systemic lupus erythematosus related to C1S?0027606;Ehlers-Danlos syndrome, periodontitis type?0012474;Complement component C1s deficiency?0015707	https://raresource.nih.gov/literature/gene/C1S	716	ENSG00000182326	1247	https://pubmed.ncbi.nlm.nih.gov/?term=C1S	None	None	19941	1874
C2	complement C2	Age related macular degeneration 14?0024978;Immunodeficiency due to a classical component pathway complement deficiency?0015025;Complement component 2 deficiency?0001452	https://raresource.nih.gov/literature/gene/C2	717	ENSG00000166278	1248	https://pubmed.ncbi.nlm.nih.gov/?term=C2	None	None	10631	6311
C2CD3	C2 domain containing 3 centriole elongation regulator	Orofaciodigital syndrome type 14?0013655	https://raresource.nih.gov/literature/gene/C2CD3	26005	ENSG00000168014	24564	https://pubmed.ncbi.nlm.nih.gov/?term=C2CD3	None	None	40643	37
C2CD6	C2 calcium dependent domain containing 6	Male infertility due to globozoospermia?0012502	https://raresource.nih.gov/literature/gene/C2CD6	151254	ENSG00000155754	14438	https://pubmed.ncbi.nlm.nih.gov/?term=C2CD6	None	None	44633	8
C2orf69	chromosome 2 open reading frame 69	Combined oxidative phosphorylation deficiency 53?0025556	https://raresource.nih.gov/literature/gene/C2orf69	205327	ENSG00000178074	26799	https://pubmed.ncbi.nlm.nih.gov/?term=C2orf69	None	None	7563	9
C3	complement C3	Age related macular degeneration 9?0024877;Atypical hemolytic uremic syndrome with complement gene abnormality?0017986;Atypical hemolytic-uremic syndrome with C3 anomaly?0018555;Complement component 3 deficiency?0016489	https://raresource.nih.gov/literature/gene/C3	718	ENSG00000125730	1318	https://pubmed.ncbi.nlm.nih.gov/?term=C3	None	None	16824	27432
C4A	complement C4A (Chido/Rodgers blood group)	Complement component 4a deficiency?0015798;Immunodeficiency due to a classical component pathway complement deficiency?0015025	https://raresource.nih.gov/literature/gene/C4A	720	ENSG00000244731	1323	https://pubmed.ncbi.nlm.nih.gov/?term=C4A	None	None	2051	7349
C4B	complement C4B (Chido/Rodgers blood group)	Immunodeficiency due to a classical component pathway complement deficiency?0015025;Complement component 4b deficiency?0015797	https://raresource.nih.gov/literature/gene/C4B	721	ENSG00000224389	1324	https://pubmed.ncbi.nlm.nih.gov/?term=C4B	None	None	2129	2831
C5	complement C5	Immunodeficiency due to a late component of complement deficiency?0017050;Complement component 5 deficiency?0002191	https://raresource.nih.gov/literature/gene/C5	727	ENSG00000106804	1331	https://pubmed.ncbi.nlm.nih.gov/?term=C5	None	None	36574	7617
C6	complement C6	Immunodeficiency due to a late component of complement deficiency?0017050;Complement component 6 deficiency?0018291	https://raresource.nih.gov/literature/gene/C6	729	ENSG00000039537	1339	https://pubmed.ncbi.nlm.nih.gov/?term=C6	None	None	49586	1697
C7	complement C7	Complement component 7 deficiency?0018290;Immunodeficiency due to a late component of complement deficiency?0017050	https://raresource.nih.gov/literature/gene/C7	730	ENSG00000112936	1346	https://pubmed.ncbi.nlm.nih.gov/?term=C7	None	None	32287	1213
C8A	complement C8 alpha chain	Immunodeficiency due to a late component of complement deficiency?0017050;Type I complement component 8 deficiency?0010626	https://raresource.nih.gov/literature/gene/C8A	731	ENSG00000157131	1352	https://pubmed.ncbi.nlm.nih.gov/?term=C8A	None	None	25328	75
C8B	complement C8 beta chain	Immunodeficiency due to a late component of complement deficiency?0017050;Type II complement component 8 deficiency?0010625	https://raresource.nih.gov/literature/gene/C8B	732	ENSG00000021852	1353	https://pubmed.ncbi.nlm.nih.gov/?term=C8B	None	None	15719	81
C8G	complement C8 gamma chain	Immunodeficiency due to a late component of complement deficiency?0017050	https://raresource.nih.gov/literature/gene/C8G	733	ENSG00000176919	1354	https://pubmed.ncbi.nlm.nih.gov/?term=C8G	None	None	1925	53
C9	complement C9	Complement component 9 deficiency?0018292;Immunodeficiency due to a late component of complement deficiency?0017050	https://raresource.nih.gov/literature/gene/C9	735	ENSG00000113600	1358	https://pubmed.ncbi.nlm.nih.gov/?term=C9	None	None	33122	1790
C9orf72	C9orf72-SMCR8 complex subunit	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1?0018396;Frontotemporal dementia with motor neuron disease?0017273;Huntington disease-like syndrome due to C9ORF72 expansions?0021702;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/C9orf72	203228	ENSG00000147894	28337	https://pubmed.ncbi.nlm.nih.gov/?term=C9orf72	None	None	15804	2527
CA12	carbonic anhydrase 12	Isolated hyperchlorhidrosis?0017984	https://raresource.nih.gov/literature/gene/CA12	771	ENSG00000074410	1371	https://pubmed.ncbi.nlm.nih.gov/?term=CA12	None	None	15555	522
CA2	carbonic anhydrase 2	Osteopetrosis with renal tubular acidosis?0004154	https://raresource.nih.gov/literature/gene/CA2	760	ENSG00000104267	1373	https://pubmed.ncbi.nlm.nih.gov/?term=CA2	None	None	8355	26979
CA5A	carbonic anhydrase 5A	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency?0013201	https://raresource.nih.gov/literature/gene/CA5A	763	ENSG00000174990	1377	https://pubmed.ncbi.nlm.nih.gov/?term=CA5A	None	None	23913	469
CA8	carbonic anhydrase 8	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3?0015634;Dysequilibrium syndrome?0001998	https://raresource.nih.gov/literature/gene/CA8	767	ENSG00000178538	1382	https://pubmed.ncbi.nlm.nih.gov/?term=CA8	None	None	35327	434
CABP2	calcium binding protein 2	Autosomal recessive nonsyndromic hearing loss 93?0022645;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/CABP2	51475	ENSG00000167791	1385	https://pubmed.ncbi.nlm.nih.gov/?term=CABP2	None	None	3494	42
CABP4	calcium binding protein 4	Congenital stationary night blindness?0025068;Cone-rod synaptic disorder, congenital nonprogressive?0015485;Autosomal dominant nocturnal frontal lobe epilepsy?0011918	https://raresource.nih.gov/literature/gene/CABP4	57010	ENSG00000175544	1386	https://pubmed.ncbi.nlm.nih.gov/?term=CABP4	None	None	3917	64
CACNA1A	calcium voltage-gated channel subunit alpha1 A	Familial or sporadic hemiplegic migraine?0010768;Benign paroxysmal torticollis of infancy?0018913;CACNA1A-related complex neurodevelopmental disorder?0027064;Lennox-Gastaut syndrome?0009912;Spinocerebellar ataxia type 6?0010351;Undetermined early-onset epileptic encephalopathy?0015028;Episodic ataxia type 2?0009602;Developmental and epileptic encephalopathy, 42?0016191;Migraine, familial hemiplegic, 1?0002638	https://raresource.nih.gov/literature/gene/CACNA1A	773	ENSG00000141837	1388	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1A	None	None	126690	1671
CACNA1B	calcium voltage-gated channel subunit alpha1 B	Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/CACNA1B	774	ENSG00000148408	1389	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1B	None	None	98158	411
CACNA1C	calcium voltage-gated channel subunit alpha1 C	Timothy syndrome type 1?0022380;Brugada syndrome 3?0010361;Brugada syndrome?0001030;Tetralogy of Fallot?0002245;Long QT syndrome 8?0025735;Timothy syndrome?0009294;Timothy syndrome type 2?0022381;Timothy syndrome, atypical type?0022382	https://raresource.nih.gov/literature/gene/CACNA1C	775	ENSG00000151067	1390	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1C	None	None	165358	5237
CACNA1D	calcium voltage-gated channel subunit alpha1 D	Aldosterone-producing adenoma with seizures and neurological abnormalities?0017591;Sinoatrial node dysfunction and deafness?0017484	https://raresource.nih.gov/literature/gene/CACNA1D	776	ENSG00000157388	1391	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1D	None	None	180584	655
CACNA1E	calcium voltage-gated channel subunit alpha1 E	Developmental and epileptic encephalopathy, 69?0025714	https://raresource.nih.gov/literature/gene/CACNA1E	777	ENSG00000198216	1392	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1E	None	None	46439	240
CACNA1F	calcium voltage-gated channel subunit alpha1 F	Congenital stationary night blindness?0025068;Aland island eye disease?0010574;Cone-rod dystrophy?0010790;CACNA1F-related retinopathy?0026392;Congenital stationary night blindness 2A?0015251;X-linked cone-rod dystrophy 3?0010654	https://raresource.nih.gov/literature/gene/CACNA1F	778	ENSG00000102001	1393	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1F	None	None	6848	252
CACNA1G	calcium voltage-gated channel subunit alpha1 G	Spinocerebellar ataxia type 42?0017811;Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits?0026008	https://raresource.nih.gov/literature/gene/CACNA1G	8913	ENSG00000006283	1394	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1G	None	None	19459	533
CACNA1H	calcium voltage-gated channel subunit alpha1 H	Hyperaldosteronism, familial, type IV?0025028	https://raresource.nih.gov/literature/gene/CACNA1H	8912	ENSG00000196557	1395	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1H	None	None	33322	631
CACNA1I	calcium voltage-gated channel subunit alpha1 I	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/CACNA1I	8911	ENSG00000100346	1396	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1I	None	None	45152	218
CACNA1S	calcium voltage-gated channel subunit alpha1 S	Hypokalemic periodic paralysis?0006729;Congenital myopathy 18?0026730;Hypokalemic periodic paralysis, type 1?0025854	https://raresource.nih.gov/literature/gene/CACNA1S	779	ENSG00000081248	1397	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1S	None	None	31250	477
CACNA2D1	calcium voltage-gated channel auxiliary subunit alpha2delta 1	Short QT syndrome?0016650;Undetermined early-onset epileptic encephalopathy?0015028;Developmental and epileptic encephalopathy 110?0026700	https://raresource.nih.gov/literature/gene/CACNA2D1	781	ENSG00000153956	1399	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA2D1	None	None	187845	192
CACNA2D4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	CACNA2D4-related retinopathy?0026393;Cone-rod dystrophy?0010790;Retinal cone dystrophy 4?0010650	https://raresource.nih.gov/literature/gene/CACNA2D4	93589	ENSG00000151062	20202	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA2D4	None	None	33460	85
CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	Brugada syndrome 4?0010362	https://raresource.nih.gov/literature/gene/CACNB2	783	ENSG00000165995	1402	https://pubmed.ncbi.nlm.nih.gov/?term=CACNB2	None	None	180042	194
CACNB4	calcium voltage-gated channel auxiliary subunit beta 4	Episodic ataxia type 5?0017113	https://raresource.nih.gov/literature/gene/CACNB4	785	ENSG00000182389	1404	https://pubmed.ncbi.nlm.nih.gov/?term=CACNB4	None	None	93822	83
CACNG2	calcium voltage-gated channel auxiliary subunit gamma 2	Intellectual disability, autosomal dominant 10?0016460;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/CACNG2	10369	ENSG00000166862	1406	https://pubmed.ncbi.nlm.nih.gov/?term=CACNG2	None	None	37750	223
CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	Developmental and epileptic encephalopathy, 50?0013621	https://raresource.nih.gov/literature/gene/CAD	790	ENSG00000084774	1424	https://pubmed.ncbi.nlm.nih.gov/?term=CAD	None	None	13568	11
CADM3	cell adhesion molecule 3	Charcot-Marie-Tooth disease, axonal, type 2FF?0025558	https://raresource.nih.gov/literature/gene/CADM3	57863	ENSG00000162706	17601	https://pubmed.ncbi.nlm.nih.gov/?term=CADM3	None	None	5842	91
CALCRL	calcitonin receptor like receptor	Lymphatic malformation 8?0025772;Non-immune hydrops fetalis?0017580	https://raresource.nih.gov/literature/gene/CALCRL	10203	ENSG00000064989	16709	https://pubmed.ncbi.nlm.nih.gov/?term=CALCRL	None	None	34757	782
CALM1	calmodulin 1	Long QT syndrome 14?0016073;Catecholaminergic polymorphic ventricular tachycardia?0004421;Catecholaminergic polymorphic ventricular tachycardia 4?0015880	https://raresource.nih.gov/literature/gene/CALM1	801	ENSG00000198668	1442	https://pubmed.ncbi.nlm.nih.gov/?term=CALM1	None	None	4743	5318
CALM2	calmodulin 2	Long QT syndrome 15?0016074	https://raresource.nih.gov/literature/gene/CALM2	805	ENSG00000143933	1445	https://pubmed.ncbi.nlm.nih.gov/?term=CALM2	None	None	11849	5408
CALM3	calmodulin 3	Long QT syndrome 16?0025773	https://raresource.nih.gov/literature/gene/CALM3	808	ENSG00000160014	1449	https://pubmed.ncbi.nlm.nih.gov/?term=CALM3	None	None	3997	5405
CALR	calreticulin	Thrombocythemia 1?0024630;Primary myelofibrosis?0008618;Essential thrombocythemia?0006594	https://raresource.nih.gov/literature/gene/CALR	811	ENSG00000179218	1455	https://pubmed.ncbi.nlm.nih.gov/?term=CALR	None	None	3926	7226
CAMK2A	calcium/calmodulin dependent protein kinase II alpha	Intellectual disability, autosomal recessive 63?0016475;Autosomal dominant non-syndromic intellectual disability?0012107;Intellectual disability, autosomal dominant 53?0016473	https://raresource.nih.gov/literature/gene/CAMK2A	815	ENSG00000070808	1460	https://pubmed.ncbi.nlm.nih.gov/?term=CAMK2A	None	None	25043	497
CAMK2B	calcium/calmodulin dependent protein kinase II beta	Intellectual disability, autosomal dominant 54?0016474;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/CAMK2B	816	ENSG00000058404	1461	https://pubmed.ncbi.nlm.nih.gov/?term=CAMK2B	None	None	46571	385
CAMK2G	calcium/calmodulin dependent protein kinase II gamma	Intellectual developmental disorder 59?0025746	https://raresource.nih.gov/literature/gene/CAMK2G	818	ENSG00000148660	1463	https://pubmed.ncbi.nlm.nih.gov/?term=CAMK2G	None	None	9715	1099
CAMLG	calcium modulating ligand	Congenital disorder of glycosylation, type IIz?0026713	https://raresource.nih.gov/literature/gene/CAMLG	819	ENSG00000164615	1471	https://pubmed.ncbi.nlm.nih.gov/?term=CAMLG	None	None	6394	349
CAMTA1	calmodulin binding transcription activator 1	Cerebellar dysfunction with variable cognitive and behavioral abnormalities?0017429	https://raresource.nih.gov/literature/gene/CAMTA1	23261	ENSG00000171735	18806	https://pubmed.ncbi.nlm.nih.gov/?term=CAMTA1	None	None	382076	230
CANT1	calcium activated nucleotidase 1	Desbuquois syndrome?0001818;Desbuquois dysplasia 1?0016451;Epiphyseal dysplasia, multiple, 7?0025960	https://raresource.nih.gov/literature/gene/CANT1	124583	ENSG00000171302	19721	https://pubmed.ncbi.nlm.nih.gov/?term=CANT1	None	None	7877	73
CAP2	cyclase associated actin cytoskeleton regulatory protein 2	Cardiomyopathy, dilated, 2I?0026864;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/CAP2	10486	ENSG00000112186	20039	https://pubmed.ncbi.nlm.nih.gov/?term=CAP2	None	None	63143	3651
CAPN1	calpain 1	Autosomal recessive spastic paraplegia type 76?0017892	https://raresource.nih.gov/literature/gene/CAPN1	823	ENSG00000014216	1476	https://pubmed.ncbi.nlm.nih.gov/?term=CAPN1	None	None	12490	1199
CAPN10	calpain 10	Diabetes mellitus, noninsulin-dependent, 1?0024769	https://raresource.nih.gov/literature/gene/CAPN10	11132	ENSG00000142330	1477	https://pubmed.ncbi.nlm.nih.gov/?term=CAPN10	None	None	9154	327
CAPN15	calpain 15	Oculogastrointestinal-neurodevelopmental syndrome?0018024	https://raresource.nih.gov/literature/gene/CAPN15	6650	ENSG00000103326	11182	https://pubmed.ncbi.nlm.nih.gov/?term=CAPN15	None	None	13877	18
CAPN3	calpain 3	Muscular dystrophy, limb-girdle, autosomal dominant 4?0022272;Autosomal recessive limb-girdle muscular dystrophy type 2A?0001057	https://raresource.nih.gov/literature/gene/CAPN3	825	ENSG00000092529	1480	https://pubmed.ncbi.nlm.nih.gov/?term=CAPN3	None	None	16092	690
CAPN5	calpain 5	Autosomal dominant neovascular inflammatory vitreoretinopathy?0017497	https://raresource.nih.gov/literature/gene/CAPN5	726	ENSG00000149260	1482	https://pubmed.ncbi.nlm.nih.gov/?term=CAPN5	None	None	16171	185
CAPNS1	calpain small subunit 1	Pulmonary hypertension, primary, 6?0027014	https://raresource.nih.gov/literature/gene/CAPNS1	826	ENSG00000126247	1481	https://pubmed.ncbi.nlm.nih.gov/?term=CAPNS1	None	None	4251	388
CAPRIN1	cell cycle associated protein 1	Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder?0027549;Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline?0027313	https://raresource.nih.gov/literature/gene/CAPRIN1	4076	ENSG00000135387	6743	https://pubmed.ncbi.nlm.nih.gov/?term=CAPRIN1	None	None	9536	12
CARD11	caspase recruitment domain family member 11	BENTA disease?0013339;CADINS disease?0022467;Severe combined immunodeficiency due to CARD11 deficiency?0017549	https://raresource.nih.gov/literature/gene/CARD11	84433	ENSG00000198286	16393	https://pubmed.ncbi.nlm.nih.gov/?term=CARD11	None	None	74401	654
CARD14	caspase recruitment domain family member 14	Familial pityriasis rubra pilaris?0024612;Pityriasis rubra pilaris?0007401	https://raresource.nih.gov/literature/gene/CARD14	79092	ENSG00000141527	16446	https://pubmed.ncbi.nlm.nih.gov/?term=CARD14	None	None	12447	5396
CARD9	caspase recruitment domain family member 9	Predisposition to invasive fungal disease due to CARD9 deficiency?0017795	https://raresource.nih.gov/literature/gene/CARD9	64170	ENSG00000187796	16391	https://pubmed.ncbi.nlm.nih.gov/?term=CARD9	None	None	5713	584
CARMIL2	capping protein regulator and myosin 1 linker 2	Severe combined immunodeficiency due to CARMIL2 deficiency?0017981	https://raresource.nih.gov/literature/gene/CARMIL2	146206	ENSG00000159753	27089	https://pubmed.ncbi.nlm.nih.gov/?term=CARMIL2	None	None	6908	54
CARS1	cysteinyl-tRNA synthetase 1	Trichothiodystrophy?0012109	https://raresource.nih.gov/literature/gene/CARS1	833	ENSG00000110619	1493	https://pubmed.ncbi.nlm.nih.gov/?term=CARS1	None	None	23020	465
CARS2	cysteinyl-tRNA synthetase 2, mitochondrial	Combined oxidative phosphorylation defect type 27?0017856	https://raresource.nih.gov/literature/gene/CARS2	79587	ENSG00000134905	25695	https://pubmed.ncbi.nlm.nih.gov/?term=CARS2	None	None	19088	78
CASK	calcium/calmodulin dependent serine protein kinase	Syndromic X-linked intellectual disability Najm type?0012669;Non-syndromic X-linked intellectual disability?0018640	https://raresource.nih.gov/literature/gene/CASK	8573	ENSG00000147044	1497	https://pubmed.ncbi.nlm.nih.gov/?term=CASK	None	None	65328	18
CASP10	caspase 10	Lymphoma, non-Hodgkin, familial?0024804;Gastric cancer?0007704;Autoimmune lymphoproliferative syndrome?0008686;Autoimmune lymphoproliferative syndrome type 2A?0015361	https://raresource.nih.gov/literature/gene/CASP10	843	ENSG00000003400	1500	https://pubmed.ncbi.nlm.nih.gov/?term=CASP10	None	None	18194	462
CASP14	caspase 14	Ichthyosis, congenital, autosomal recessive 12?0025052	https://raresource.nih.gov/literature/gene/CASP14	23581	ENSG00000105141	1502	https://pubmed.ncbi.nlm.nih.gov/?term=CASP14	None	None	3747	248
CASP2	caspase 2	Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly?0026905	https://raresource.nih.gov/literature/gene/CASP2	835	ENSG00000106144	1503	https://pubmed.ncbi.nlm.nih.gov/?term=CASP2	None	None	5110	1109
CASP8	caspase 8	Hepatocellular carcinoma?0016773;Adult hepatocellular carcinoma?0006608;Familial cancer of breast?0017142;Autoimmune lymphoproliferative syndrome type 2B?0009796	https://raresource.nih.gov/literature/gene/CASP8	841	ENSG00000064012	1509	https://pubmed.ncbi.nlm.nih.gov/?term=CASP8	None	None	23558	12711
CASQ1	calsequestrin 1	Myopathy with tubular aggregates?0003884;Myopathy due to calsequestrin and SERCA1 protein overload?0016770	https://raresource.nih.gov/literature/gene/CASQ1	844	ENSG00000143318	1512	https://pubmed.ncbi.nlm.nih.gov/?term=CASQ1	None	None	5771	177
CASQ2	calsequestrin 2	Catecholaminergic polymorphic ventricular tachycardia 1?0024803;Catecholaminergic polymorphic ventricular tachycardia 2?0015535;Catecholaminergic polymorphic ventricular tachycardia?0004421	https://raresource.nih.gov/literature/gene/CASQ2	845	ENSG00000118729	1513	https://pubmed.ncbi.nlm.nih.gov/?term=CASQ2	None	None	28839	341
CASR	calcium sensing receptor	Autosomal dominant hypocalcemia?0002877;Autosomal dominant hypocalcemia 1?0024767;Neonatal severe primary hyperparathyroidism?0002838;Familial hypocalciuric hypercalcemia 1?0002796	https://raresource.nih.gov/literature/gene/CASR	846	ENSG00000036828	1514	https://pubmed.ncbi.nlm.nih.gov/?term=CASR	None	None	42845	16517
CAST	calpastatin	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome?0017764	https://raresource.nih.gov/literature/gene/CAST	831	ENSG00000310517	1515	https://pubmed.ncbi.nlm.nih.gov/?term=CAST	None	None	37598	1613
CAT	catalase	Acatalasia?0000363	https://raresource.nih.gov/literature/gene/CAT	847	ENSG00000121691	1516	https://pubmed.ncbi.nlm.nih.gov/?term=CAT	None	None	13065	93415
CATSPER1	cation channel sperm associated 1	Spermatogenic failure 7?0018400	https://raresource.nih.gov/literature/gene/CATSPER1	117144	ENSG00000175294	17116	https://pubmed.ncbi.nlm.nih.gov/?term=CATSPER1	None	None	5792	356
CATSPER2	cation channel sperm associated 2	Deafness-infertility syndrome?0011911	https://raresource.nih.gov/literature/gene/CATSPER2	117155	ENSG00000166762	18810	https://pubmed.ncbi.nlm.nih.gov/?term=CATSPER2	None	None	14365	66
CAV1	caveolin 1	Congenital generalized lipodystrophy type 3?0013389;Pulmonary hypertension, primary, 3?0024973;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome?0018038;Heritable pulmonary arterial hypertension?0011914	https://raresource.nih.gov/literature/gene/CAV1	857	ENSG00000105974	1527	https://pubmed.ncbi.nlm.nih.gov/?term=CAV1	None	None	15910	142
CAV3	caveolin 3	Isolated asymptomatic elevation of creatine phosphokinase?0020356;Caveolinopathy?0020394;Rippling muscle disease 2?0009164;Hypertrophic cardiomyopathy 1?0024636;Long QT syndrome 9?0010435;Distal myopathy, Tateyama type?0017900	https://raresource.nih.gov/literature/gene/CAV3	859	ENSG00000182533	1529	https://pubmed.ncbi.nlm.nih.gov/?term=CAV3	None	None	32951	1752
CAVIN1	caveolae associated protein 1	Congenital generalized lipodystrophy type 4?0010937	https://raresource.nih.gov/literature/gene/CAVIN1	284119	ENSG00000177469	9688	https://pubmed.ncbi.nlm.nih.gov/?term=CAVIN1	None	None	8724	361
CBL	Cbl proto-oncogene	Noonan syndrome?0010955;CBL-related disorder?0017577;Aggressive systemic mastocytosis?0019597	https://raresource.nih.gov/literature/gene/CBL	867	ENSG00000110395	1541	https://pubmed.ncbi.nlm.nih.gov/?term=CBL	None	None	36907	3633
CBLIF	cobalamin binding intrinsic factor	Hereditary intrinsic factor deficiency?0003024	https://raresource.nih.gov/literature/gene/CBLIF	2694	ENSG00000134812	4268	https://pubmed.ncbi.nlm.nih.gov/?term=CBLIF	None	None	7457	5099
CBS	cystathionine beta-synthase	Classic homocystinuria?0006667;Ehlers-Danlos syndrome, type 4?0002082	https://raresource.nih.gov/literature/gene/CBS	875	ENSG00000160200	1550	https://pubmed.ncbi.nlm.nih.gov/?term=CBS	None	None	4884	2803
CBX2	chromobox 2	46,XY sex reversal 5?0015611;Pure gonadal dysgenesis 46,XY?0005068	https://raresource.nih.gov/literature/gene/CBX2	84733	ENSG00000173894	1552	https://pubmed.ncbi.nlm.nih.gov/?term=CBX2	None	None	4969	277
CBY1	chibby 1, beta catenin antagonist	Joubert syndrome?0006802	https://raresource.nih.gov/literature/gene/CBY1	25776	ENSG00000100211	1307	https://pubmed.ncbi.nlm.nih.gov/?term=CBY1	None	None	6703	80
CC2D1A	coiled-coil and C2 domain containing 1A	Intellectual disability, autosomal recessive 3?0022539;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/CC2D1A	54862	ENSG00000132024	30237	https://pubmed.ncbi.nlm.nih.gov/?term=CC2D1A	None	None	7795	96
CC2D2A	coiled-coil and C2 domain containing 2A	Joubert syndrome with oculorenal defect?0009455;Joubert syndrome 9?0015549;COACH syndrome 2?0016422;Meckel syndrome, type 6?0015548;COACH syndrome?0001410;Meckel-Gruber syndrome?0003436;Retinitis pigmentosa 93?0025638	https://raresource.nih.gov/literature/gene/CC2D2A	57545	ENSG00000048342	29253	https://pubmed.ncbi.nlm.nih.gov/?term=CC2D2A	None	None	46986	97
CCBE1	collagen and calcium binding EGF domains 1	Hennekam lymphangiectasia-lymphedema syndrome?0003318;Hennekam lymphangiectasia-lymphedema syndrome 1?0015181	https://raresource.nih.gov/literature/gene/CCBE1	147372	ENSG00000183287	29426	https://pubmed.ncbi.nlm.nih.gov/?term=CCBE1	None	None	79264	107
CCDC134	coiled-coil domain containing 134	Osteogenesis imperfecta, IIA 22?0025621	https://raresource.nih.gov/literature/gene/CCDC134	79879	ENSG00000100147	26185	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC134	None	None	7108	24
CCDC141	coiled-coil domain containing 141	Hypogonadism with anosmia?0010771	https://raresource.nih.gov/literature/gene/CCDC141	285025	ENSG00000163492	26821	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC141	None	None	85228	37
CCDC174	coiled-coil domain containing 174	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome?0017840	https://raresource.nih.gov/literature/gene/CCDC174	51244	ENSG00000154781	28033	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC174	None	None	8808	752
CCDC22	CCC complex scaffolding subunit CCDC22	Ritscher-Schinzel syndrome?0005666;Ritscher-Schinzel syndrome 2?0015278	https://raresource.nih.gov/literature/gene/CCDC22	28952	ENSG00000101997	28909	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC22	None	None	3219	52
CCDC39	coiled-coil domain 39 molecular ruler complex subunit	Primary ciliary dyskinesia?0004484;Primary ciliary dyskinesia 14?0015713	https://raresource.nih.gov/literature/gene/CCDC39	339829	ENSG00000284862	25244	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC39	None	None	88154	94
CCDC40	coiled-coil domain 40 molecular ruler complex subunit	Primary ciliary dyskinesia 15?0015714;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/CCDC40	55036	ENSG00000141519	26090	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC40	None	None	20075	69
CCDC50	coiled-coil domain containing 50	Autosomal dominant nonsyndromic hearing loss 44?0018118;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/CCDC50	152137	ENSG00000152492	18111	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC50	None	None	26260	47
CCDC65	coiled-coil domain containing 65	Primary ciliary dyskinesia 27?0015976;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/CCDC65	85478	ENSG00000139537	29937	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC65	None	None	8616	22
CCDC78	coiled-coil domain containing 78	Congenital myopathy with internal nuclei and atypical cores?0017443	https://raresource.nih.gov/literature/gene/CCDC78	124093	ENSG00000162004	14153	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC78	None	None	1773	15
CCDC8	coiled-coil domain containing 8	3-M syndrome?0005667;3M syndrome 3?0015772	https://raresource.nih.gov/literature/gene/CCDC8	83987	ENSG00000169515	25367	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC8	None	None	3112	372
CCDC88A	coiled-coil domain containing 88A	PEHO-like syndrome?0016911	https://raresource.nih.gov/literature/gene/CCDC88A	55704	ENSG00000115355	25523	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC88A	None	None	59449	602
CCDC88C	coiled-coil domain containing 88C	Hydrocephalus, nonsyndromic, autosomal recessive 1?0024663;Congenital non-communicating hydrocephalus?0017272;Spinocerebellar ataxia type 40?0012371	https://raresource.nih.gov/literature/gene/CCDC88C	440193	ENSG00000015133	19967	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC88C	None	None	42939	92
CCDC91	coiled-coil domain containing 91	Acrokerato-elastoidosis?0000125	https://raresource.nih.gov/literature/gene/CCDC91	55297	ENSG00000123106	24855	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC91	None	None	87573	547
CCM2	CCM2 scaffold protein	Hereditary cavernous hemangioma of brain?0013641;Cerebral cavernous malformation 2?0018313	https://raresource.nih.gov/literature/gene/CCM2	83605	ENSG00000136280	21708	https://pubmed.ncbi.nlm.nih.gov/?term=CCM2	None	None	31231	1707
CCN2	cellular communication network factor 2	Kyphomelic dysplasia?0010149;Spondyloepimetaphyseal dysplasia, Li-Shao-Li type?0027434	https://raresource.nih.gov/literature/gene/CCN2	1490	ENSG00000118523	2500	https://pubmed.ncbi.nlm.nih.gov/?term=CCN2	None	None	2859	6659
CCN6	cellular communication network factor 6	Progressive pseudorheumatoid dysplasia?0009184	https://raresource.nih.gov/literature/gene/CCN6	8838	ENSG00000112761	12771	https://pubmed.ncbi.nlm.nih.gov/?term=CCN6	None	None	6881	897
CCND1	cyclin D1	Multiple myeloma?0007108;Mantle cell lymphoma?0006969	https://raresource.nih.gov/literature/gene/CCND1	595	ENSG00000110092	1582	https://pubmed.ncbi.nlm.nih.gov/?term=CCND1	None	None	6240	25201
CCND2	cyclin D2	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?0010341;Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3?0018079	https://raresource.nih.gov/literature/gene/CCND2	894	ENSG00000118971	1583	https://pubmed.ncbi.nlm.nih.gov/?term=CCND2	None	None	11164	2027
CCNF	cyclin F	Amyotrophic lateral sclerosis?0005786;Frontotemporal dementia and/or amyotrophic lateral sclerosis 5?0016427	https://raresource.nih.gov/literature/gene/CCNF	899	ENSG00000162063	1591	https://pubmed.ncbi.nlm.nih.gov/?term=CCNF	None	None	13752	183
CCNK	cyclin K	CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome?0022417	https://raresource.nih.gov/literature/gene/CCNK	8812	ENSG00000090061	1596	https://pubmed.ncbi.nlm.nih.gov/?term=CCNK	None	None	10485	118
CCNO	cyclin O	Primary ciliary dyskinesia 29?0016025;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/CCNO	10309	ENSG00000152669	18576	https://pubmed.ncbi.nlm.nih.gov/?term=CCNO	None	None	2654	56
CCNQ	cyclin Q	Syndactyly-telecanthus-anogenital and renal malformations syndrome?0010295	https://raresource.nih.gov/literature/gene/CCNQ	92002	ENSG00000262919	28434	https://pubmed.ncbi.nlm.nih.gov/?term=CCNQ	None	None	3025	44
CCT5	chaperonin containing TCP1 subunit 5	Hereditary sensory and autonomic neuropathy with spastic paraplegia?0016959	https://raresource.nih.gov/literature/gene/CCT5	22948	ENSG00000150753	1618	https://pubmed.ncbi.nlm.nih.gov/?term=CCT5	None	None	8224	121
CD151	CD151 molecule (Raph blood group)	Epidermolysis bullosa simplex 7, with nephropathy and deafness?0017367	https://raresource.nih.gov/literature/gene/CD151	977	ENSG00000177697	1630	https://pubmed.ncbi.nlm.nih.gov/?term=CD151	None	None	4163	677
CD164	CD164 molecule	Autosomal dominant nonsyndromic hearing loss 66?0018146;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/CD164	8763	ENSG00000135535	1632	https://pubmed.ncbi.nlm.nih.gov/?term=CD164	None	None	8434	140
CD19	CD19 molecule	Immunodeficiency, common variable, 3?0015668	https://raresource.nih.gov/literature/gene/CD19	930	ENSG00000177455	1633	https://pubmed.ncbi.nlm.nih.gov/?term=CD19	None	None	3574	13510
CD247	CD247 molecule	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta?0017053;Immunodeficiency 25?0018294	https://raresource.nih.gov/literature/gene/CD247	919	ENSG00000198821	1677	https://pubmed.ncbi.nlm.nih.gov/?term=CD247	None	None	34778	879
CD27	CD27 molecule	Lymphoproliferative syndrome 2?0024968	https://raresource.nih.gov/literature/gene/CD27	939	ENSG00000139193	11922	https://pubmed.ncbi.nlm.nih.gov/?term=CD27	None	None	2752	4317
CD2AP	CD2 associated protein	Familial idiopathic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/CD2AP	23607	ENSG00000198087	14258	https://pubmed.ncbi.nlm.nih.gov/?term=CD2AP	None	None	61856	645
CD320	CD320 molecule	Methylmalonic acidemia due to transcobalamin receptor defect?0016481	https://raresource.nih.gov/literature/gene/CD320	51293	ENSG00000167775	16692	https://pubmed.ncbi.nlm.nih.gov/?term=CD320	None	None	3378	113
CD36	CD36 molecule (CD36 blood group)	Platelet-type bleeding disorder 10?0024837;Malaria?0006961	https://raresource.nih.gov/literature/gene/CD36	948	ENSG00000135218	1663	https://pubmed.ncbi.nlm.nih.gov/?term=CD36	None	None	111961	9054
CD3D	CD3 delta subunit of T-cell receptor complex	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta?0017053;Immunodeficiency 19?0018296	https://raresource.nih.gov/literature/gene/CD3D	915	ENSG00000167286	1673	https://pubmed.ncbi.nlm.nih.gov/?term=CD3D	None	None	1573	390
CD3E	CD3 epsilon subunit of T-cell receptor complex	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta?0017053;Immunodeficiency 18?0018295	https://raresource.nih.gov/literature/gene/CD3E	916	ENSG00000198851	1674	https://pubmed.ncbi.nlm.nih.gov/?term=CD3E	None	None	4852	860
CD3G	CD3 gamma subunit of T-cell receptor complex	Combined immunodeficiency due to CD3gamma deficiency?0017046	https://raresource.nih.gov/literature/gene/CD3G	917	ENSG00000160654	1675	https://pubmed.ncbi.nlm.nih.gov/?term=CD3G	None	None	5788	170
CD4	CD4 molecule	Immunodeficiency 79?0009523	https://raresource.nih.gov/literature/gene/CD4	920	ENSG00000010610	1678	https://pubmed.ncbi.nlm.nih.gov/?term=CD4	None	None	11686	25893
CD40	CD40 molecule	Hyper-IgM syndrome type 3?0010579	https://raresource.nih.gov/literature/gene/CD40	958	ENSG00000101017	11919	https://pubmed.ncbi.nlm.nih.gov/?term=CD40	None	None	4316	19373
CD40LG	CD40 ligand	Hyper-IgM syndrome type 1?0000073	https://raresource.nih.gov/literature/gene/CD40LG	959	ENSG00000102245	11935	https://pubmed.ncbi.nlm.nih.gov/?term=CD40LG	None	None	2699	63696
CD46	CD46 molecule	Atypical hemolytic uremic syndrome with complement gene abnormality?0017986;Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly?0018552	https://raresource.nih.gov/literature/gene/CD46	4179	ENSG00000117335	6953	https://pubmed.ncbi.nlm.nih.gov/?term=CD46	None	None	16885	3386
CD55	CD55 molecule (Cromer blood group)	Protein-losing enteropathy?0015003	https://raresource.nih.gov/literature/gene/CD55	1604	ENSG00000196352	2665	https://pubmed.ncbi.nlm.nih.gov/?term=CD55	None	None	15024	4358
CD59	CD59 molecule (CD59 blood group)	Primary CD59 deficiency?0017054	https://raresource.nih.gov/literature/gene/CD59	966	ENSG00000085063	1689	https://pubmed.ncbi.nlm.nih.gov/?term=CD59	None	None	5474	2530
CD70	CD70 molecule	Severe combined immunodeficiency due to CD70 deficiency?0017978	https://raresource.nih.gov/literature/gene/CD70	970	ENSG00000125726	11937	https://pubmed.ncbi.nlm.nih.gov/?term=CD70	None	None	5462	1040
CD79A	CD79a molecule	Agammaglobulinemia 3, autosomal recessive?0015673;Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/CD79A	973	ENSG00000105369	1698	https://pubmed.ncbi.nlm.nih.gov/?term=CD79A	None	None	2517	48303
CD79B	CD79b molecule	Agammaglobulinemia 6, autosomal recessive?0015579;Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/CD79B	974	ENSG00000007312	1699	https://pubmed.ncbi.nlm.nih.gov/?term=CD79B	None	None	2442	1016
CD81	CD81 molecule	Immunodeficiency, common variable, 6?0015671	https://raresource.nih.gov/literature/gene/CD81	975	ENSG00000110651	1701	https://pubmed.ncbi.nlm.nih.gov/?term=CD81	None	None	9852	2472
CD8A	CD8 subunit alpha	Susceptibility to respiratory infections associated with CD8alpha chain mutation?0017047	https://raresource.nih.gov/literature/gene/CD8A	925	ENSG00000153563	1706	https://pubmed.ncbi.nlm.nih.gov/?term=CD8A	None	None	10811	13805
CD96	CD96 molecule	C syndrome?0005978	https://raresource.nih.gov/literature/gene/CD96	10225	ENSG00000153283	16892	https://pubmed.ncbi.nlm.nih.gov/?term=CD96	None	None	48042	760
CDAN1	codanin 1	Congenital dyserythropoietic anemia, type I?0002000;Anemia, congenital dyserythropoietic, type 1a?0024649	https://raresource.nih.gov/literature/gene/CDAN1	146059	ENSG00000140326	1713	https://pubmed.ncbi.nlm.nih.gov/?term=CDAN1	None	None	5795	221
CDC14A	cell division cycle 14A	Autosomal recessive nonsyndromic hearing loss 32?0022610;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/CDC14A	8556	ENSG00000079335	1718	https://pubmed.ncbi.nlm.nih.gov/?term=CDC14A	None	None	63420	412
CDC40	cell division cycle 40	Pontocerebellar hypoplasia, type 15?0018563	https://raresource.nih.gov/literature/gene/CDC40	51362	ENSG00000168438	17350	https://pubmed.ncbi.nlm.nih.gov/?term=CDC40	None	None	24971	54
CDC42	cell division cycle 42	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome?0017884;Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18?0022462	https://raresource.nih.gov/literature/gene/CDC42	998	ENSG00000070831	1736	https://pubmed.ncbi.nlm.nih.gov/?term=CDC42	None	None	26698	8003
CDC45	cell division cycle 45	Meier-Gorlin syndrome?0002033;Meier-Gorlin syndrome 7?0016181	https://raresource.nih.gov/literature/gene/CDC45	8318	ENSG00000093009	1739	https://pubmed.ncbi.nlm.nih.gov/?term=CDC45	None	None	14161	622
CDC6	cell division cycle 6	Meier-Gorlin syndrome?0002033;Meier-Gorlin syndrome 5?0015712	https://raresource.nih.gov/literature/gene/CDC6	990	ENSG00000094804	1744	https://pubmed.ncbi.nlm.nih.gov/?term=CDC6	None	None	5542	1047
CDC73	cell division cycle 73	Familial isolated hyperparathyroidism?0016923;Parathyroid carcinoma?0007329;Hyperparathyroidism 2 with jaw tumors?0010829;Hyperparathyroidism 1?0018253	https://raresource.nih.gov/literature/gene/CDC73	79577	ENSG00000134371	16783	https://pubmed.ncbi.nlm.nih.gov/?term=CDC73	None	None	62227	589
CDCA7	cell division cycle associated 7	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency?0002945;Immunodeficiency-centromeric instability-facial anomalies syndrome 3?0016168	https://raresource.nih.gov/literature/gene/CDCA7	83879	ENSG00000144354	14628	https://pubmed.ncbi.nlm.nih.gov/?term=CDCA7	None	None	6991	126
CDH1	cadherin 1	Blepharocheilodontic syndrome?0002071;Familial cancer of breast?0017142;Blepharocheilodontic syndrome 1?0025965;CDH1-related diffuse gastric and lobular breast cancer syndrome?0026244;Hereditary diffuse gastric adenocarcinoma?0010900;Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate?0026080	https://raresource.nih.gov/literature/gene/CDH1	999	ENSG00000039068	1748	https://pubmed.ncbi.nlm.nih.gov/?term=CDH1	None	None	40823	5039
CDH11	cadherin 11	Elsahy-Waters syndrome?0000955	https://raresource.nih.gov/literature/gene/CDH11	1009	ENSG00000140937	1750	https://pubmed.ncbi.nlm.nih.gov/?term=CDH11	None	None	64384	1040
CDH15	cadherin 15	Intellectual disability, autosomal dominant 3?0016454;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/CDH15	1013	ENSG00000129910	1754	https://pubmed.ncbi.nlm.nih.gov/?term=CDH15	None	None	11020	901
CDH2	cadherin 2	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form?0017347;Arrhythmogenic right ventricular dysplasia, familial, 14?0025519	https://raresource.nih.gov/literature/gene/CDH2	1000	ENSG00000170558	1759	https://pubmed.ncbi.nlm.nih.gov/?term=CDH2	None	None	74485	977
CDH23	cadherin related 23	Pituitary adenoma 5, multiple types?0025954;Hearing loss, autosomal recessive?0018117;Usher syndrome, type 1D/F?0026025;Autosomal recessive nonsyndromic hearing loss 12?0022590;Usher syndrome type 1D?0005438	https://raresource.nih.gov/literature/gene/CDH23	64072	ENSG00000107736	13733	https://pubmed.ncbi.nlm.nih.gov/?term=CDH23	None	None	162801	512
CDH3	cadherin 3	EEM syndrome?0002078;Congenital hypotrichosis with juvenile macular dystrophy?0003066	https://raresource.nih.gov/literature/gene/CDH3	1001	ENSG00000062038	1762	https://pubmed.ncbi.nlm.nih.gov/?term=CDH3	None	None	19552	312
CDHR1	cadherin related family member 1	Cone-rod dystrophy 15?0015686;Cone-rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/CDHR1	92211	ENSG00000148600	14550	https://pubmed.ncbi.nlm.nih.gov/?term=CDHR1	None	None	11062	74
CDIN1	CDAN1 interacting nuclease 1	Congenital dyserythropoietic anemia type type 1B?0015994;Congenital dyserythropoietic anemia, type I?0002000	https://raresource.nih.gov/literature/gene/CDIN1	84529	ENSG00000186073	26929	https://pubmed.ncbi.nlm.nih.gov/?term=CDIN1	None	None	None	25
CDK10	cyclin dependent kinase 10	Al Kaissi syndrome?0025894	https://raresource.nih.gov/literature/gene/CDK10	8558	ENSG00000185324	1770	https://pubmed.ncbi.nlm.nih.gov/?term=CDK10	None	None	7579	139
CDK13	cyclin dependent kinase 13	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder?0025887	https://raresource.nih.gov/literature/gene/CDK13	8621	ENSG00000065883	1733	https://pubmed.ncbi.nlm.nih.gov/?term=CDK13	None	None	61170	5280
CDK19	cyclin dependent kinase 19	Developmental and epileptic encephalopathy, 87?0016393;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/CDK19	23097	ENSG00000155111	19338	https://pubmed.ncbi.nlm.nih.gov/?term=CDK19	None	None	78178	254
CDK5	cyclin dependent kinase 5	Lissencephaly 7 with cerebellar hypoplasia?0025004	https://raresource.nih.gov/literature/gene/CDK5	1020	ENSG00000164885	1774	https://pubmed.ncbi.nlm.nih.gov/?term=CDK5	None	None	1680	3304
CDK5RAP2	CDK5 regulatory subunit associated protein 2	Microcephaly 3, primary, autosomal recessive?0015373;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/CDK5RAP2	55755	ENSG00000136861	18672	https://pubmed.ncbi.nlm.nih.gov/?term=CDK5RAP2	None	None	69887	241
CDK6	cyclin dependent kinase 6	Microcephaly 12, primary, autosomal recessive?0016057;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/CDK6	1021	ENSG00000105810	1777	https://pubmed.ncbi.nlm.nih.gov/?term=CDK6	None	None	85159	3552
CDKL5	cyclin dependent kinase like 5	Atypical Rett syndrome?0004694;Developmental and epileptic encephalopathy, 2?0018617;CDKL5 disorder?0026021	https://raresource.nih.gov/literature/gene/CDKL5	6792	ENSG00000008086	11411	https://pubmed.ncbi.nlm.nih.gov/?term=CDKL5	None	None	39845	683
CDKN1B	cyclin dependent kinase inhibitor 1B	Multiple endocrine neoplasia type 4?0017275	https://raresource.nih.gov/literature/gene/CDKN1B	1027	ENSG00000111276	1785	https://pubmed.ncbi.nlm.nih.gov/?term=CDKN1B	None	None	3730	6617
CDKN1C	cyclin dependent kinase inhibitor 1C	Beckwith-Wiedemann syndrome due to CDKN1C mutation?0017160;Beckwith-Wiedemann syndrome?0003343;Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome?0021818;IMAGe syndrome?0012312	https://raresource.nih.gov/literature/gene/CDKN1C	1028	ENSG00000129757	1786	https://pubmed.ncbi.nlm.nih.gov/?term=CDKN1C	None	None	3469	1970
CDKN2A	cyclin dependent kinase inhibitor 2A	Adrenal cortex carcinoma?0000558;Melanoma and neural system tumor syndrome?0008468;Familial atypical multiple mole melanoma syndrome?0009281;Melanoma-pancreatic cancer syndrome?0018473;Precursor T-cell acute lymphoblastic leukemia?0019694	https://raresource.nih.gov/literature/gene/CDKN2A	1029	ENSG00000147889	1787	https://pubmed.ncbi.nlm.nih.gov/?term=CDKN2A	None	None	17172	29273
CDON	cell adhesion associated, oncogene regulated	Pituitary stalk interruption syndrome?0013209;Lobar holoprosencephaly?0016830;Holoprosencephaly 11?0024938;Microform holoprosencephaly?0017290;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/CDON	50937	ENSG00000064309	17104	https://pubmed.ncbi.nlm.nih.gov/?term=CDON	None	None	27053	358
CDSN	corneodesmosin	Peeling skin syndrome 1?0017259;Hypotrichosis 2?0018093;Hypotrichosis simplex of the scalp?0016789	https://raresource.nih.gov/literature/gene/CDSN	1041	ENSG00000204539	1802	https://pubmed.ncbi.nlm.nih.gov/?term=CDSN	None	None	2253	3538
CDT1	chromatin licensing and DNA replication factor 1	Meier-Gorlin syndrome?0002033;Meier-Gorlin syndrome 4?0015711	https://raresource.nih.gov/literature/gene/CDT1	81620	ENSG00000167513	24576	https://pubmed.ncbi.nlm.nih.gov/?term=CDT1	None	None	3370	644
CEACAM16	CEA cell adhesion molecule 16, tectorial membrane component	Autosomal dominant nonsyndromic hearing loss?0016791;Hearing loss, autosomal recessive?0018117;Hearing loss, autosomal recessive 113?0018152;Autosomal dominant nonsyndromic hearing loss 4B?0018136	https://raresource.nih.gov/literature/gene/CEACAM16	388551	ENSG00000213892	31948	https://pubmed.ncbi.nlm.nih.gov/?term=CEACAM16	None	None	4286	19
CEBPA	CCAAT enhancer binding protein alpha	Acute myeloid leukemia?0012757;Acute myeloid leukemia with CEBPA somatic mutations?0017451;Inherited acute myeloid leukemia?0017450	https://raresource.nih.gov/literature/gene/CEBPA	1050	ENSG00000245848	1833	https://pubmed.ncbi.nlm.nih.gov/?term=CEBPA	None	None	3524	3480
CEBPE	CCAAT enhancer binding protein epsilon	Specific granule deficiency?0010778;Specific granule deficiency 1?0025882;CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome?0022273	https://raresource.nih.gov/literature/gene/CEBPE	1053	ENSG00000092067	1836	https://pubmed.ncbi.nlm.nih.gov/?term=CEBPE	None	None	2116	282
CECR	cat eye syndrome chromosome region	Cat eye syndrome?0000026	https://raresource.nih.gov/literature/gene/CECR	1055		1838	https://pubmed.ncbi.nlm.nih.gov/?term=CECR	None	None	None	424
CEL	carboxyl ester lipase	Maturity-onset diabetes of the young type 8?0010662;Maturity onset diabetes mellitus in young?0003697	https://raresource.nih.gov/literature/gene/CEL	1056	ENSG00000170835	1848	https://pubmed.ncbi.nlm.nih.gov/?term=CEL	None	None	6398	7005
CELA2A	chymotrypsin like elastase 2A	Abdominal obesity-metabolic syndrome 4?0025757	https://raresource.nih.gov/literature/gene/CELA2A	63036	ENSG00000142615	24609	https://pubmed.ncbi.nlm.nih.gov/?term=CELA2A	None	None	3477	47
CELF2	CUGBP Elav-like family member 2	Developmental and epileptic encephalopathy 97?0025564;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/CELF2	10659	ENSG00000048740	2550	https://pubmed.ncbi.nlm.nih.gov/?term=CELF2	None	None	209694	14
CELSR1	cadherin EGF LAG seven-pass G-type receptor 1	CELSR1-related late-onset primary lymphedema?0022306;Yellow nail syndrome?0000184;Lymphatic malformation 9?0025527	https://raresource.nih.gov/literature/gene/CELSR1	9620	ENSG00000075275	1850	https://pubmed.ncbi.nlm.nih.gov/?term=CELSR1	None	None	60690	339
CENATAC	centrosomal AT-AC splicing factor	Mosaic variegated aneuploidy syndrome 4?0026702	https://raresource.nih.gov/literature/gene/CENATAC	338657	ENSG00000186166	30460	https://pubmed.ncbi.nlm.nih.gov/?term=CENATAC	None	None	None	4
CENPE	centromere protein E	Microcephaly 13, primary, autosomal recessive?0016054;Autosomal recessive primary microcephaly?0012117;Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/CENPE	1062	ENSG00000138778	1856	https://pubmed.ncbi.nlm.nih.gov/?term=CENPE	None	None	36758	495
CENPF	centromere protein F	Stromme syndrome?0017945	https://raresource.nih.gov/literature/gene/CENPF	1063	ENSG00000117724	1857	https://pubmed.ncbi.nlm.nih.gov/?term=CENPF	None	None	24464	445
CENPP	centromere protein P	Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/CENPP	401541	ENSG00000188312	32933	https://pubmed.ncbi.nlm.nih.gov/?term=CENPP	None	None	69822	16
CEP104	centrosomal protein 104	Joubert syndrome?0006802;Joubert syndrome 25?0016159;Intellectual developmental disorder, autosomal recessive 77?0025679;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/CEP104	9731	ENSG00000116198	24866	https://pubmed.ncbi.nlm.nih.gov/?term=CEP104	None	None	18733	31
CEP120	centrosomal protein 120	Joubert syndrome 31?0016251;Joubert syndrome?0006802;Jeune thoracic dystrophy?0003049;Joubert syndrome with ocular defect?0010168;Short-rib thoracic dysplasia 13 with or without polydactyly?0016079	https://raresource.nih.gov/literature/gene/CEP120	153241	ENSG00000168944	26690	https://pubmed.ncbi.nlm.nih.gov/?term=CEP120	None	None	30808	49
CEP135	centrosomal protein 135	Autosomal recessive primary microcephaly?0012117;Microcephaly 8, primary, autosomal recessive?0015833	https://raresource.nih.gov/literature/gene/CEP135	9662	ENSG00000174799	29086	https://pubmed.ncbi.nlm.nih.gov/?term=CEP135	None	None	30282	91
CEP152	centrosomal protein 152	Microcephaly 9, primary, autosomal recessive?0015855;Seckel syndrome 5?0015719;Autosomal recessive primary microcephaly?0012117;Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/CEP152	22995	ENSG00000103995	29298	https://pubmed.ncbi.nlm.nih.gov/?term=CEP152	None	None	17614	106
CEP164	centrosomal protein 164	Nephronophthisis 15?0015852;CEP164-related ciliopathy?0027539;Renal dysplasia and retinal aplasia?0000322	https://raresource.nih.gov/literature/gene/CEP164	22897	ENSG00000110274	29182	https://pubmed.ncbi.nlm.nih.gov/?term=CEP164	None	None	22055	97
CEP19	centrosomal protein 19	Obesity due to CEP19 deficiency?0017631;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/CEP19	84984	ENSG00000174007	28209	https://pubmed.ncbi.nlm.nih.gov/?term=CEP19	None	None	3297	19
CEP290	centrosomal protein 290	Joubert syndrome with oculorenal defect?0009455;Bardet-Biedl syndrome?0006866;Renal dysplasia and retinal aplasia?0000322;Meckel syndrome, type 4?0015509;Joubert syndrome 5?0015475;Leber congenital amaurosis 10?0010487;Meckel-Gruber syndrome?0003436;CEP290-related ciliopathy?0026225;Leber congenital amaurosis?0000634;Senior-Loken syndrome 6?0015476;Bardet-Biedl syndrome 14?0016038	https://raresource.nih.gov/literature/gene/CEP290	80184	ENSG00000198707	29021	https://pubmed.ncbi.nlm.nih.gov/?term=CEP290	None	None	23277	399
CEP295	centrosomal protein 295	Seckel syndrome 11?0027009	https://raresource.nih.gov/literature/gene/CEP295	85459	ENSG00000166004	29366	https://pubmed.ncbi.nlm.nih.gov/?term=CEP295	None	None	5530	22
CEP41	centrosomal protein 41	Joubert syndrome?0006802;Joubert syndrome 15?0015806;Joubert syndrome with ocular defect?0010168	https://raresource.nih.gov/literature/gene/CEP41	95681	ENSG00000106477	12370	https://pubmed.ncbi.nlm.nih.gov/?term=CEP41	None	None	18111	23
CEP55	centrosomal protein 55	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome?0017922	https://raresource.nih.gov/literature/gene/CEP55	55165	ENSG00000138180	1161	https://pubmed.ncbi.nlm.nih.gov/?term=CEP55	None	None	12875	380
CEP57	centrosomal protein 57	Mosaic variegated aneuploidy syndrome?0003007;Mosaic variegated aneuploidy syndrome 2?0015758	https://raresource.nih.gov/literature/gene/CEP57	9702	ENSG00000166037	30794	https://pubmed.ncbi.nlm.nih.gov/?term=CEP57	None	None	11578	72
CEP63	centrosomal protein 63	Autosomal recessive primary microcephaly?0012117;Seckel syndrome 6?0024958	https://raresource.nih.gov/literature/gene/CEP63	80254	ENSG00000182923	25815	https://pubmed.ncbi.nlm.nih.gov/?term=CEP63	None	None	32340	45
CEP78	centrosomal protein 78	Usher syndrome type 3?0005442	https://raresource.nih.gov/literature/gene/CEP78	84131	ENSG00000148019	25740	https://pubmed.ncbi.nlm.nih.gov/?term=CEP78	None	None	17850	36
CEP83	centrosomal protein 83	Nephronophthisis 18?0024992	https://raresource.nih.gov/literature/gene/CEP83	51134	ENSG00000173588	17966	https://pubmed.ncbi.nlm.nih.gov/?term=CEP83	None	None	35199	33
CEP85L	centrosomal protein 85 like	Lissencephaly 10?0025512	https://raresource.nih.gov/literature/gene/CEP85L	387119	ENSG00000111860	21638	https://pubmed.ncbi.nlm.nih.gov/?term=CEP85L	None	None	88760	23
CERKL	CERK like autophagy regulator	Retinitis pigmentosa 26?0010397;CERKL-related retinopathy?0026551	https://raresource.nih.gov/literature/gene/CERKL	375298	ENSG00000188452	21699	https://pubmed.ncbi.nlm.nih.gov/?term=CERKL	None	None	50023	101
CERS1	ceramide synthase 1	Progressive myoclonic epilepsy type 8?0017706	https://raresource.nih.gov/literature/gene/CERS1	10715	ENSG00000223802	14253	https://pubmed.ncbi.nlm.nih.gov/?term=CERS1	None	None	1494	297
CERS3	ceramide synthase 3	Congenital nonbullous ichthyosiform erythroderma?0009736;Autosomal recessive congenital ichthyosis 9?0015896	https://raresource.nih.gov/literature/gene/CERS3	204219	ENSG00000154227	23752	https://pubmed.ncbi.nlm.nih.gov/?term=CERS3	None	None	40992	87
CERT1	ceramide transporter 1	Intellectual disability, autosomal dominant 34?0025006	https://raresource.nih.gov/literature/gene/CERT1	10087	ENSG00000113163	2205	https://pubmed.ncbi.nlm.nih.gov/?term=CERT1	None	None	57404	203
CETP	cholesteryl ester transfer protein	Cholesterol-ester transfer protein deficiency?0016724;Hyperalphalipoproteinemia?0020230	https://raresource.nih.gov/literature/gene/CETP	1071	ENSG00000087237	1869	https://pubmed.ncbi.nlm.nih.gov/?term=CETP	None	None	7147	3457
CFAP221	cilia and flagella associated protein 221	Young syndrome?0000341;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/CFAP221	200373	ENSG00000163075	33720	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP221	None	None	39794	23
CFAP251	cilia and flagella associated protein 251	Spermatogenic failure 33?0018406	https://raresource.nih.gov/literature/gene/CFAP251	144406	ENSG00000158023	28506	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP251	None	None	None	29
CFAP298	cilia and flagella associated protein 298	Primary ciliary dyskinesia 26?0015974;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/CFAP298	56683	ENSG00000159079	1301	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP298	None	None	109	58
CFAP300	cilia and flagella associated protein 300	Ciliary dyskinesia, primary, 38?0016288;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/CFAP300	85016	ENSG00000137691	28188	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP300	None	None	13144	15
CFAP410	cilia and flagella associated protein 410	Cone-rod dystrophy?0010790;Retinal dystrophy with or without macular staphyloma?0025996;Amyotrophic lateral sclerosis?0005786;Axial spondylometaphyseal dysplasia?0008720	https://raresource.nih.gov/literature/gene/CFAP410	755	ENSG00000160226	1260	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP410	None	None	5724	49
CFAP418	cilia and flagella associated protein 418	Bardet-Biedl syndrome?0006866;Cone-rod dystrophy?0010790;Bardet-biedl syndrome 21?0016226;Cone-rod dystrophy 16?0015812;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/CFAP418	157657	ENSG00000156172	27232	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP418	None	None	None	21
CFAP43	cilia and flagella associated protein 43	Spermatogenic failure 19?0018403	https://raresource.nih.gov/literature/gene/CFAP43	80217	ENSG00000197748	26684	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP43	None	None	33831	45
CFAP44	cilia and flagella associated protein 44	Spermatogenic failure 20?0018404	https://raresource.nih.gov/literature/gene/CFAP44	55779	ENSG00000206530	25631	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP44	None	None	50107	30
CFAP45	cilia and flagella associated protein 45	Tetralogy of Fallot?0002245;Heterotaxy, visceral, 11, autosomal, with male infertility?0025574	https://raresource.nih.gov/literature/gene/CFAP45	25790	ENSG00000213085	17229	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP45	None	None	4956	33
CFAP46	cilia and flagella associated protein 46	CFAP46-related primary ciliary dyskinesia?0027564	https://raresource.nih.gov/literature/gene/CFAP46	54777	ENSG00000171811	25247	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP46	None	None	23646	13
CFAP52	cilia and flagella associated protein 52	Situs inversus?0004883;Heterotaxy, visceral, 10, autosomal, with male infertility?0025573	https://raresource.nih.gov/literature/gene/CFAP52	146845	ENSG00000166596	16053	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP52	None	None	24435	21
CFAP53	cilia and flagella associated protein 53	Situs inversus?0004883;Tetralogy of Fallot?0002245;Heterotaxy, visceral, 6, autosomal?0024961	https://raresource.nih.gov/literature/gene/CFAP53	220136	ENSG00000172361	26530	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP53	None	None	10718	21
CFAP54	cilia and flagella associated protein 54	Ciliary dyskinesia, primary, 54?0027290	https://raresource.nih.gov/literature/gene/CFAP54	144535	ENSG00000188596	26456	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP54	None	None	94375	15
CFAP65	cilia and flagella associated protein 65	Spermatogenic failure 40?0018411	https://raresource.nih.gov/literature/gene/CFAP65	255101	ENSG00000181378	25325	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP65	None	None	17484	28
CFAP70	cilia and flagella associated protein 70	Spermatogenic failure 41?0018412	https://raresource.nih.gov/literature/gene/CFAP70	118491	ENSG00000156042	30726	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP70	None	None	37613	17
CFAP74	cilia and flagella associated protein 74	Ciliary dyskinesia, primary, 49, without situs inversus?0026710;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/CFAP74	85452	ENSG00000142609	29368	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP74	None	None	15495	14
CFB	complement factor B	Age related macular degeneration 14?0024978;Atypical hemolytic uremic syndrome with complement gene abnormality?0017986;Atypical hemolytic-uremic syndrome with B factor anomaly?0018554	https://raresource.nih.gov/literature/gene/CFB	629	ENSG00000243649	1037	https://pubmed.ncbi.nlm.nih.gov/?term=CFB	None	None	41	2303
CFC1	cryptic, EGF-CFC family member 1	Tetralogy of Fallot?0002245;Heterotaxy, visceral, 2, autosomal?0024805	https://raresource.nih.gov/literature/gene/CFC1	55997	ENSG00000136698	18292	https://pubmed.ncbi.nlm.nih.gov/?term=CFC1	None	None	4080	82
CFD	complement factor D	Recurrent Neisseria infections due to factor D deficiency?0017055	https://raresource.nih.gov/literature/gene/CFD	1675	ENSG00000197766	2771	https://pubmed.ncbi.nlm.nih.gov/?term=CFD	None	None	4397	1166
CFH	complement factor H	Atypical hemolytic uremic syndrome with complement gene abnormality?0017986;Immunodeficiency with factor H anomaly?0017099;Factor H deficiency?0018551;Basal laminar drusen?0015060;Mesangiocapillary glomerulonephritis, type II?0008555;Age related macular degeneration 4?0024872	https://raresource.nih.gov/literature/gene/CFH	3075	ENSG00000000971	4883	https://pubmed.ncbi.nlm.nih.gov/?term=CFH	None	None	42166	5763
CFHR1	complement factor H related 1	Mesangiocapillary glomerulonephritis, type II?0008555;Age related macular degeneration 1?0024788	https://raresource.nih.gov/literature/gene/CFHR1	3078	ENSG00000244414	4888	https://pubmed.ncbi.nlm.nih.gov/?term=CFHR1	None	None	6868	504
CFHR3	complement factor H related 3	Age related macular degeneration 1?0024788	https://raresource.nih.gov/literature/gene/CFHR3	10878	ENSG00000116785	16980	https://pubmed.ncbi.nlm.nih.gov/?term=CFHR3	None	None	10003	225
CFHR5	complement factor H related 5	C3 glomerulonephritis?0016487	https://raresource.nih.gov/literature/gene/CFHR5	81494	ENSG00000134389	24668	https://pubmed.ncbi.nlm.nih.gov/?term=CFHR5	None	None	14597	176
CFI	complement factor I	Atypical hemolytic-uremic syndrome with I factor anomaly?0018553;Atypical hemolytic uremic syndrome with complement gene abnormality?0017986;Factor I deficiency?0017098	https://raresource.nih.gov/literature/gene/CFI	3426	ENSG00000205403	5394	https://pubmed.ncbi.nlm.nih.gov/?term=CFI	None	None	310	2174
CFL2	cofilin 2	Nemaline myopathy 7?0015493;Typical nemaline myopathy?0012822	https://raresource.nih.gov/literature/gene/CFL2	1073	ENSG00000165410	1875	https://pubmed.ncbi.nlm.nih.gov/?term=CFL2	None	None	3046	160
CFP	complement factor properdin	Properdin deficiency, X-linked?0004513	https://raresource.nih.gov/literature/gene/CFP	5199	ENSG00000126759	8864	https://pubmed.ncbi.nlm.nih.gov/?term=CFP	None	None	2202	3270
CFTR	CF transmembrane conductance regulator	Congenital bilateral aplasia of vas deferens from CFTR mutation?0015243;CFTR-related metabolic syndrome?0027376;Cystic fibrosis?0006233;Hereditary pancreatitis?0006632;Congenital bilateral absence of vas deferens?0005461	https://raresource.nih.gov/literature/gene/CFTR	1080	ENSG00000001626	1884	https://pubmed.ncbi.nlm.nih.gov/?term=CFTR	None	None	81603	14020
CHAMP1	chromosome alignment maintaining phosphoprotein 1	Intellectual disability, autosomal dominant 40?0013539	https://raresource.nih.gov/literature/gene/CHAMP1	283489	ENSG00000198824	20311	https://pubmed.ncbi.nlm.nih.gov/?term=CHAMP1	None	None	6827	1957
CHAT	choline O-acetyltransferase	Familial infantile myasthenia?0009689	https://raresource.nih.gov/literature/gene/CHAT	1103	ENSG00000070748	1912	https://pubmed.ncbi.nlm.nih.gov/?term=CHAT	None	None	22138	5349
CHCHD10	coiled-coil-helix-coiled-coil-helix domain containing 10	Autosomal dominant mitochondrial myopathy with exercise intolerance?0017794;Amyotrophic lateral sclerosis?0005786;Lower motor neuron syndrome with late-adult onset?0017282;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2?0018397;Frontotemporal dementia with motor neuron disease?0017273	https://raresource.nih.gov/literature/gene/CHCHD10	400916	ENSG00000250479	15559	https://pubmed.ncbi.nlm.nih.gov/?term=CHCHD10	None	None	1444	176
CHCHD2	coiled-coil-helix-coiled-coil-helix domain containing 2	Parkinson disease 22, autosomal dominant?0025012	https://raresource.nih.gov/literature/gene/CHCHD2	51142	ENSG00000106153	21645	https://pubmed.ncbi.nlm.nih.gov/?term=CHCHD2	None	None	3454	188
CHD1	chromodomain helicase DNA binding protein 1	Pilarowski-Bjornsson syndrome?0017970	https://raresource.nih.gov/literature/gene/CHD1	1105	ENSG00000153922	1915	https://pubmed.ncbi.nlm.nih.gov/?term=CHD1	None	None	31554	416
CHD2	chromodomain helicase DNA binding protein 2	Developmental and epileptic encephalopathy 94?0013197;Lennox-Gastaut syndrome?0009912	https://raresource.nih.gov/literature/gene/CHD2	1106	ENSG00000173575	1917	https://pubmed.ncbi.nlm.nih.gov/?term=CHD2	None	None	38150	208
CHD3	chromodomain helicase DNA binding protein 3	Snijders Blok-Campeau syndrome?0013806	https://raresource.nih.gov/literature/gene/CHD3	1107	ENSG00000170004	1918	https://pubmed.ncbi.nlm.nih.gov/?term=CHD3	None	None	8655	174
CHD4	chromodomain helicase DNA binding protein 4	Sifrim-Hitz-Weiss syndrome?0025038;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/CHD4	1108	ENSG00000111642	1919	https://pubmed.ncbi.nlm.nih.gov/?term=CHD4	None	None	15848	361
CHD6	chromodomain helicase DNA binding protein 6	Hallermann-Streiff syndrome?0000288	https://raresource.nih.gov/literature/gene/CHD6	84181	ENSG00000124177	19057	https://pubmed.ncbi.nlm.nih.gov/?term=CHD6	None	None	52883	181
CHD7	chromodomain helicase DNA binding protein 7	Hypogonadotropic hypogonadism 5 with or without anosmia?0010773;CHARGE syndrome?0000029;Hypogonadotropic hypogonadism?0016533;Hypogonadism with anosmia?0010771;Tetralogy of Fallot?0002245;CHD7-related CHARGE syndrome?0027575	https://raresource.nih.gov/literature/gene/CHD7	55636	ENSG00000171316	20626	https://pubmed.ncbi.nlm.nih.gov/?term=CHD7	None	None	73906	782
CHD8	chromodomain helicase DNA binding protein 8	Intellectual developmental disorder with autism and macrocephaly?0024965	https://raresource.nih.gov/literature/gene/CHD8	57680	ENSG00000100888	20153	https://pubmed.ncbi.nlm.nih.gov/?term=CHD8	None	None	21143	316
CHEK2	checkpoint kinase 2	Bone osteosarcoma?0007284;Familial prostate cancer?0027144;CHEK2-related cancer predisposition?0026411;Familial colorectal cancer type X?0021840	https://raresource.nih.gov/literature/gene/CHEK2	11200	ENSG00000183765	16627	https://pubmed.ncbi.nlm.nih.gov/?term=CHEK2	None	None	21329	4751
CHIC2	cysteine rich hydrophobic domain 2	Acute myeloid leukemia?0012757	https://raresource.nih.gov/literature/gene/CHIC2	26511	ENSG00000109220	1935	https://pubmed.ncbi.nlm.nih.gov/?term=CHIC2	None	None	218	117
CHKA	choline kinase alpha	Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/CHKA	1119	ENSG00000110721	1937	https://pubmed.ncbi.nlm.nih.gov/?term=CHKA	None	None	9941	16903
CHKB	choline kinase beta	Megaconial type congenital muscular dystrophy?0010317;Proximal myopathy with focal depletion of mitochondria?0017956	https://raresource.nih.gov/literature/gene/CHKB	1120	ENSG00000100288	1938	https://pubmed.ncbi.nlm.nih.gov/?term=CHKB	None	None	5949	57
CHM	CHM Rab escort protein	Choroideremia?0006061	https://raresource.nih.gov/literature/gene/CHM	1121	ENSG00000188419	1940	https://pubmed.ncbi.nlm.nih.gov/?term=CHM	None	None	34462	418
CHMP1A	charged multivesicular body protein 1A	Pontocerebellar hypoplasia type 8?0017488	https://raresource.nih.gov/literature/gene/CHMP1A	5119	ENSG00000131165	8740	https://pubmed.ncbi.nlm.nih.gov/?term=CHMP1A	None	None	6044	71
CHMP2B	charged multivesicular body protein 2B	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7?0015322;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/CHMP2B	25978	ENSG00000083937	24537	https://pubmed.ncbi.nlm.nih.gov/?term=CHMP2B	None	None	11482	1355
CHMP4B	charged multivesicular body protein 4B	Cataract 31 multiple types?0010227;Early-onset posterior subcapsular cataract?0021846;Posterior subcapsular cataract?0016889	https://raresource.nih.gov/literature/gene/CHMP4B	128866	ENSG00000101421	16171	https://pubmed.ncbi.nlm.nih.gov/?term=CHMP4B	None	None	10880	283
CHN1	chimerin 1	Duane retraction syndrome?0006288;Duane retraction syndrome 2?0009966	https://raresource.nih.gov/literature/gene/CHN1	1123	ENSG00000128656	1943	https://pubmed.ncbi.nlm.nih.gov/?term=CHN1	None	None	76266	937
CHP1	calcineurin like EF-hand protein 1	Spastic ataxia 9, autosomal recessive?0025734	https://raresource.nih.gov/literature/gene/CHP1	11261	ENSG00000187446	17433	https://pubmed.ncbi.nlm.nih.gov/?term=CHP1	None	None	14387	4368
CHRDL1	chordin like 1	Isolated congenital megalocornea?0012648	https://raresource.nih.gov/literature/gene/CHRDL1	91851	ENSG00000101938	29861	https://pubmed.ncbi.nlm.nih.gov/?term=CHRDL1	None	None	20499	386
CHRM3	cholinergic receptor muscarinic 3	Prune belly syndrome?0007479	https://raresource.nih.gov/literature/gene/CHRM3	1131	ENSG00000133019	1952	https://pubmed.ncbi.nlm.nih.gov/?term=CHRM3	None	None	203931	576
CHRNA1	cholinergic receptor nicotinic alpha 1 subunit	Lethal multiple pterygium syndrome?0003834;Myasthenic syndrome, congenital, 1B, fast-channel?0015445;Postsynaptic congenital myasthenic syndrome?0015022;Congenital myasthenic syndrome 1A?0015330	https://raresource.nih.gov/literature/gene/CHRNA1	1134	ENSG00000138435	1955	https://pubmed.ncbi.nlm.nih.gov/?term=CHRNA1	None	None	15997	269
CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	Autosomal dominant nocturnal frontal lobe epilepsy 4?0015481;Autosomal dominant nocturnal frontal lobe epilepsy?0011918	https://raresource.nih.gov/literature/gene/CHRNA2	1135	ENSG00000120903	1956	https://pubmed.ncbi.nlm.nih.gov/?term=CHRNA2	None	None	8401	116
CHRNA4	cholinergic receptor nicotinic alpha 4 subunit	Autosomal dominant nocturnal frontal lobe epilepsy 1?0015319;Autosomal dominant nocturnal frontal lobe epilepsy?0011918	https://raresource.nih.gov/literature/gene/CHRNA4	1137	ENSG00000101204	1958	https://pubmed.ncbi.nlm.nih.gov/?term=CHRNA4	None	None	15175	5201
CHRNA7	cholinergic receptor nicotinic alpha 7 subunit	Chromosome 15q13.3 microdeletion syndrome?0010296	https://raresource.nih.gov/literature/gene/CHRNA7	1139	ENSG00000175344	1960	https://pubmed.ncbi.nlm.nih.gov/?term=CHRNA7	None	None	66871	435
CHRNB1	cholinergic receptor nicotinic beta 1 subunit	Congenital myasthenic syndrome 2A?0009895;Postsynaptic congenital myasthenic syndrome?0015022;Congenital myasthenic syndrome 2C?0016083	https://raresource.nih.gov/literature/gene/CHRNB1	1140	ENSG00000170175	1961	https://pubmed.ncbi.nlm.nih.gov/?term=CHRNB1	None	None	4428	58
CHRNB2	cholinergic receptor nicotinic beta 2 subunit	Autosomal dominant nocturnal frontal lobe epilepsy?0011918;Autosomal dominant nocturnal frontal lobe epilepsy 3?0015380	https://raresource.nih.gov/literature/gene/CHRNB2	1141	ENSG00000160716	1962	https://pubmed.ncbi.nlm.nih.gov/?term=CHRNB2	None	None	5316	169
CHRND	cholinergic receptor nicotinic delta subunit	Lethal multiple pterygium syndrome?0003834;Congenital myasthenic syndrome 3C?0016086;Postsynaptic congenital myasthenic syndrome?0015022;Congenital myasthenic syndrome 3B?0016085;Congenital myasthenic syndrome 3A?0016084	https://raresource.nih.gov/literature/gene/CHRND	1144	ENSG00000135902	1965	https://pubmed.ncbi.nlm.nih.gov/?term=CHRND	None	None	5125	74
CHRNE	cholinergic receptor nicotinic epsilon subunit	Congenital myasthenic syndrome 4B?0016087;Postsynaptic congenital myasthenic syndrome?0015022;Congenital myasthenic syndrome 4C?0010108;Congenital myasthenic syndrome 4A?0015387;Congenital myasthenic syndrome 4?0027234	https://raresource.nih.gov/literature/gene/CHRNE	1145	ENSG00000108556	1966	https://pubmed.ncbi.nlm.nih.gov/?term=CHRNE	None	None	12504	135
CHRNG	cholinergic receptor nicotinic gamma subunit	Lethal multiple pterygium syndrome?0003834;Autosomal recessive multiple pterygium syndrome?0007111	https://raresource.nih.gov/literature/gene/CHRNG	1146	ENSG00000196811	1967	https://pubmed.ncbi.nlm.nih.gov/?term=CHRNG	None	None	4690	77
CHST14	carbohydrate sulfotransferase 14	Ehlers-Danlos syndrome, musculocontractural type?0008486;Ehlers-Danlos syndrome, musculocontractural type 1?0025208	https://raresource.nih.gov/literature/gene/CHST14	113189	ENSG00000169105	24464	https://pubmed.ncbi.nlm.nih.gov/?term=CHST14	None	None	2598	74
CHST3	carbohydrate sulfotransferase 3	Spondyloepiphyseal dysplasia with congenital joint dislocations?0013169	https://raresource.nih.gov/literature/gene/CHST3	9469	ENSG00000122863	1971	https://pubmed.ncbi.nlm.nih.gov/?term=CHST3	None	None	18739	404
CHST6	carbohydrate sulfotransferase 6	Macular corneal dystrophy?0006953	https://raresource.nih.gov/literature/gene/CHST6	4166	ENSG00000183196	6938	https://pubmed.ncbi.nlm.nih.gov/?term=CHST6	None	None	10097	99
CHST8	carbohydrate sulfotransferase 8	Peeling skin syndrome type A?0017258	https://raresource.nih.gov/literature/gene/CHST8	64377	ENSG00000124302	15993	https://pubmed.ncbi.nlm.nih.gov/?term=CHST8	None	None	40556	31
CHSY1	chondroitin sulfate synthase 1	Temtamy preaxial brachydactyly syndrome?0009679	https://raresource.nih.gov/literature/gene/CHSY1	22856	ENSG00000131873	17198	https://pubmed.ncbi.nlm.nih.gov/?term=CHSY1	None	None	22382	103
CHUK	component of inhibitor of nuclear factor kappa B kinase complex	Bartsocas-Papas syndrome 2?0016444;Cocoon syndrome?0017823	https://raresource.nih.gov/literature/gene/CHUK	1147	ENSG00000213341	1974	https://pubmed.ncbi.nlm.nih.gov/?term=CHUK	None	None	13920	464
CIAO1	cytosolic iron-sulfur assembly component 1	Multiple mitochondrial dysfunctions syndrome 10?0027319	https://raresource.nih.gov/literature/gene/CIAO1	9391	ENSG00000144021	14280	https://pubmed.ncbi.nlm.nih.gov/?term=CIAO1	None	None	3351	59
CIB1	calcium and integrin binding 1	Epidermodysplasia verruciformis?0006357	https://raresource.nih.gov/literature/gene/CIB1	10519	ENSG00000185043	16920	https://pubmed.ncbi.nlm.nih.gov/?term=CIB1	None	None	1585	3696
CIB2	calcium and integrin binding family member 2	Usher syndrome type 1J?0015863;Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 48?0022612	https://raresource.nih.gov/literature/gene/CIB2	10518	ENSG00000136425	24579	https://pubmed.ncbi.nlm.nih.gov/?term=CIB2	None	None	7301	513
CIBAR1	CBY1 interacting BAR domain containing 1	Postaxial polydactyly type A?0016817;Polydactyly, postaxial, type A9?0018177	https://raresource.nih.gov/literature/gene/CIBAR1	137392	ENSG00000188343	30452	https://pubmed.ncbi.nlm.nih.gov/?term=CIBAR1	None	None	None	29
CIC	capicua transcriptional repressor	Intellectual disability, autosomal dominant 45?0025658;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/CIC	23152	ENSG00000079432	14214	https://pubmed.ncbi.nlm.nih.gov/?term=CIC	None	None	13212	812
CIDEC	cell death inducing DFFA like effector c	CIDEC-related familial partial lipodystrophy?0013125	https://raresource.nih.gov/literature/gene/CIDEC	63924	ENSG00000187288	24229	https://pubmed.ncbi.nlm.nih.gov/?term=CIDEC	None	None	7265	372
CIITA	class II major histocompatibility complex transactivator	MHC class II deficiency 1?0027099;MHC class II deficiency?0000824	https://raresource.nih.gov/literature/gene/CIITA	4261	ENSG00000179583	7067	https://pubmed.ncbi.nlm.nih.gov/?term=CIITA	None	None	16878	1245
CILK1	ciliogenesis associated kinase 1	Endocrine-cerebro-osteodysplasia syndrome?0017094	https://raresource.nih.gov/literature/gene/CILK1	22858	ENSG00000112144	21219	https://pubmed.ncbi.nlm.nih.gov/?term=CILK1	None	None	None	2499
CIROP	ciliated left-right organizer metallopeptidase	Situs inversus?0004883;Heterotaxy, visceral, 12, autosomal?0026669	https://raresource.nih.gov/literature/gene/CIROP	100128908	ENSG00000283654	53647	https://pubmed.ncbi.nlm.nih.gov/?term=CIROP	None	None	None	3
CIROZ	ciliated left-right organizer protein containing ZP-N domains	Heterotaxy, visceral, 14, autosomal?0027430	https://raresource.nih.gov/literature/gene/CIROZ	148345	ENSG00000175262	26730	https://pubmed.ncbi.nlm.nih.gov/?term=CIROZ	None	None	None	5
CISD2	CDGSH iron sulfur domain 2	Wolfram syndrome?0007898;Wolfram syndrome 2?0015374	https://raresource.nih.gov/literature/gene/CISD2	493856	ENSG00000145354	24212	https://pubmed.ncbi.nlm.nih.gov/?term=CISD2	None	None	5656	245
CISH	cytokine inducible SH2 containing protein	Malaria?0006961	https://raresource.nih.gov/literature/gene/CISH	1154	ENSG00000114737	1984	https://pubmed.ncbi.nlm.nih.gov/?term=CISH	None	None	2562	1463
CIT	citron rho-interacting serine/threonine kinase	Microcephaly 17, primary, autosomal recessive?0016186;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/CIT	11113	ENSG00000122966	1985	https://pubmed.ncbi.nlm.nih.gov/?term=CIT	None	None	47938	555
CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	Atrial septal defect, ostium secundum type?0005865;Sinus venosus atrial septal defect?0010696;Tetralogy of Fallot?0002245;Atrial septal defect 8?0024945	https://raresource.nih.gov/literature/gene/CITED2	10370	ENSG00000164442	1987	https://pubmed.ncbi.nlm.nih.gov/?term=CITED2	None	None	3508	352
CKAP2L	cytoskeleton associated protein 2 like	Filippi syndrome?0000062	https://raresource.nih.gov/literature/gene/CKAP2L	150468	ENSG00000169607	26877	https://pubmed.ncbi.nlm.nih.gov/?term=CKAP2L	None	None	10734	48
CLCC1	chloride channel CLIC like 1	Retinitis pigmentosa 32?0010395	https://raresource.nih.gov/literature/gene/CLCC1	23155	ENSG00000121940	29675	https://pubmed.ncbi.nlm.nih.gov/?term=CLCC1	None	None	12940	25
CLCF1	cardiotrophin like cytokine factor 1	Cold-induced sweating syndrome 2?0018277;Cold-induced sweating syndrome?0016983	https://raresource.nih.gov/literature/gene/CLCF1	23529	ENSG00000175505	17412	https://pubmed.ncbi.nlm.nih.gov/?term=CLCF1	None	None	4127	589
CLCN1	chloride voltage-gated channel 1	Congenital myotonia, autosomal dominant form?0006176;Congenital myotonia, autosomal recessive form?0000844;Batten-Turner congenital myopathy?0026232;Thomsen and Becker disease?0012301	https://raresource.nih.gov/literature/gene/CLCN1	1180	ENSG00000188037	2019	https://pubmed.ncbi.nlm.nih.gov/?term=CLCN1	None	None	15679	500
CLCN2	chloride voltage-gated channel 2	Leukoencephalopathy with mild cerebellar ataxia and white matter edema?0017565;Familial hyperaldosteronism type II?0002789	https://raresource.nih.gov/literature/gene/CLCN2	1181	ENSG00000114859	2020	https://pubmed.ncbi.nlm.nih.gov/?term=CLCN2	None	None	6589	509
CLCN4	chloride voltage-gated channel 4	Non-syndromic X-linked intellectual disability?0018640;Intellectual disability, X-linked 49?0017880	https://raresource.nih.gov/literature/gene/CLCN4	1183	ENSG00000073464	2022	https://pubmed.ncbi.nlm.nih.gov/?term=CLCN4	None	None	15339	120
CLCN5	chloride voltage-gated channel 5	Dent disease type 1?0001804;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis?0015301;Hypophosphatemic rickets, X-linked recessive?0015011;X-linked recessive nephrolithiasis with renal failure?0015305	https://raresource.nih.gov/literature/gene/CLCN5	1184	ENSG00000171365	2023	https://pubmed.ncbi.nlm.nih.gov/?term=CLCN5	None	None	32065	487
CLCN6	chloride voltage-gated channel 6	Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities?0018023	https://raresource.nih.gov/literature/gene/CLCN6	1185	ENSG00000011021	2024	https://pubmed.ncbi.nlm.nih.gov/?term=CLCN6	None	None	16060	69
CLCN7	chloride voltage-gated channel 7	Autosomal recessive osteopetrosis?0015012;Autosomal dominant osteopetrosis 2?0000383;Autosomal recessive osteopetrosis 4?0005993	https://raresource.nih.gov/literature/gene/CLCN7	1186	ENSG00000103249	2025	https://pubmed.ncbi.nlm.nih.gov/?term=CLCN7	None	None	12766	356
CLCNKA	chloride voltage-gated channel Ka	Bartter disease type 4B?0015612;Bartter syndrome type 4?0010508	https://raresource.nih.gov/literature/gene/CLCNKA	1187	ENSG00000186510	2026	https://pubmed.ncbi.nlm.nih.gov/?term=CLCNKA	None	None	7140	117
CLCNKB	chloride voltage-gated channel Kb	Bartter disease type 3?0009659;Bartter disease type 4B?0015612;Bartter syndrome type 4?0010508	https://raresource.nih.gov/literature/gene/CLCNKB	1188	ENSG00000184908	2027	https://pubmed.ncbi.nlm.nih.gov/?term=CLCNKB	None	None	7671	55
CLDN1	claudin 1	Neonatal ichthyosis-sclerosing cholangitis syndrome?0010583	https://raresource.nih.gov/literature/gene/CLDN1	9076	ENSG00000163347	2032	https://pubmed.ncbi.nlm.nih.gov/?term=CLDN1	None	None	7232	4293
CLDN10	claudin 10	HELIX syndrome?0017967	https://raresource.nih.gov/literature/gene/CLDN10	9071	ENSG00000134873	2033	https://pubmed.ncbi.nlm.nih.gov/?term=CLDN10	None	None	47855	296
CLDN11	claudin 11	Leukodystrophy, hypomyelinating, 22?0025480	https://raresource.nih.gov/literature/gene/CLDN11	5010	ENSG00000013297	8514	https://pubmed.ncbi.nlm.nih.gov/?term=CLDN11	None	None	5164	496
CLDN14	claudin 14	Autosomal recessive nonsyndromic hearing loss 29?0022641;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/CLDN14	23562	ENSG00000159261	2035	https://pubmed.ncbi.nlm.nih.gov/?term=CLDN14	None	None	29590	161
CLDN16	claudin 16	Primary hypomagnesemia?0002906	https://raresource.nih.gov/literature/gene/CLDN16	10686	ENSG00000113946	2037	https://pubmed.ncbi.nlm.nih.gov/?term=CLDN16	None	None	34170	121
CLDN19	claudin 19	Renal hypomagnesemia 5 with ocular involvement?0003451	https://raresource.nih.gov/literature/gene/CLDN19	149461	ENSG00000164007	2040	https://pubmed.ncbi.nlm.nih.gov/?term=CLDN19	None	None	4357	138
CLDN9	claudin 9	Hearing loss, autosomal recessive 116?0022664	https://raresource.nih.gov/literature/gene/CLDN9	9080	ENSG00000213937	2051	https://pubmed.ncbi.nlm.nih.gov/?term=CLDN9	None	None	1865	71
CLEC3B	C-type lectin domain family 3 member B	Macular dystrophy, retinal, 4?0026744	https://raresource.nih.gov/literature/gene/CLEC3B	7123	ENSG00000163815	11891	https://pubmed.ncbi.nlm.nih.gov/?term=CLEC3B	None	None	4474	1540
CLEC7A	C-type lectin domain containing 7A	Chronic mucocutaneous candidiasis?0001077;Familial chronic mucocutaneous candidiasis?0015617	https://raresource.nih.gov/literature/gene/CLEC7A	64581	ENSG00000172243	14558	https://pubmed.ncbi.nlm.nih.gov/?term=CLEC7A	None	None	5129	1710
CLIC2	chloride intracellular channel 2	Chromosome Xq28 duplication syndrome?0015266;X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome?0017485	https://raresource.nih.gov/literature/gene/CLIC2	1193	ENSG00000155962	2063	https://pubmed.ncbi.nlm.nih.gov/?term=CLIC2	None	None	11593	50
CLIC5	chloride intracellular channel 5	Autosomal recessive nonsyndromic hearing loss 103?0022653;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/CLIC5	53405	ENSG00000112782	13517	https://pubmed.ncbi.nlm.nih.gov/?term=CLIC5	None	None	80750	101
CLIP1	CAP-Gly domain containing linker protein 1	Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/CLIP1	6249	ENSG00000130779	10461	https://pubmed.ncbi.nlm.nih.gov/?term=CLIP1	None	None	56376	655
CLMP	CXADR like membrane protein	Congenital short bowel syndrome?0016592;Congenital short bowel syndrome, autosomal recessive?0018585	https://raresource.nih.gov/literature/gene/CLMP	79827	ENSG00000166250	24039	https://pubmed.ncbi.nlm.nih.gov/?term=CLMP	None	None	34030	64
CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	Neuronal ceroid lipofuscinosis 3?0005897	https://raresource.nih.gov/literature/gene/CLN3	1201	ENSG00000188603	2074	https://pubmed.ncbi.nlm.nih.gov/?term=CLN3	None	None	9229	801
CLN5	CLN5 intracellular trafficking protein	Neuronal ceroid lipofuscinosis 5?0001223	https://raresource.nih.gov/literature/gene/CLN5	1203	ENSG00000102805	2076	https://pubmed.ncbi.nlm.nih.gov/?term=CLN5	None	None	4363	189
CLN6	CLN6 transmembrane ER protein	Ceroid lipofuscinosis, neuronal, 6B (Kufs type)?0006845;Ceroid lipofuscinosis, neuronal, 6A?0001224	https://raresource.nih.gov/literature/gene/CLN6	54982	ENSG00000128973	2077	https://pubmed.ncbi.nlm.nih.gov/?term=CLN6	None	None	14547	189
CLN8	CLN8 transmembrane ER and ERGIC protein	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant?0004010;Neuronal ceroid lipofuscinosis 8?0017152	https://raresource.nih.gov/literature/gene/CLN8	2055	ENSG00000182372	2079	https://pubmed.ncbi.nlm.nih.gov/?term=CLN8	None	None	24002	149
CLP1	cleavage factor polyribonucleotide kinase subunit 1	Pontocerebellar hypoplasia type 10?0017680	https://raresource.nih.gov/literature/gene/CLP1	10978	ENSG00000172409	16999	https://pubmed.ncbi.nlm.nih.gov/?term=CLP1	None	None	3466	137
CLPB	ClpB family mitochondrial disaggregase	3-methylglutaconic aciduria, type VIIB?0017767;Neutropenia, severe congenital, 9, autosomal dominant?0025625;3-methylglutaconic aciduria, type VIIA?0026676;Autosomal dominant severe congenital neutropenia?0009558	https://raresource.nih.gov/literature/gene/CLPB	81570	ENSG00000162129	30664	https://pubmed.ncbi.nlm.nih.gov/?term=CLPB	None	None	31635	718
CLPP	caseinolytic mitochondrial matrix peptidase proteolytic subunit	Perrault syndrome 3?0015760	https://raresource.nih.gov/literature/gene/CLPP	8192	ENSG00000125656	2084	https://pubmed.ncbi.nlm.nih.gov/?term=CLPP	None	None	3652	1492
CLPX	caseinolytic mitochondrial matrix peptidase chaperone subunit X	Protoporphyria, erythropoietic, 2?0026007	https://raresource.nih.gov/literature/gene/CLPX	10845	ENSG00000166855	2088	https://pubmed.ncbi.nlm.nih.gov/?term=CLPX	None	None	11801	592
CLRN1	clarin 1	Retinitis pigmentosa 61?0015766;Usher syndrome type 3?0005442;Retinitis pigmentosa?0005694;Usher syndrome type 3A?0015242	https://raresource.nih.gov/literature/gene/CLRN1	7401	ENSG00000163646	12605	https://pubmed.ncbi.nlm.nih.gov/?term=CLRN1	None	None	19528	113
CLRN2	clarin 2	Hearing loss, autosomal recessive 117?0022665	https://raresource.nih.gov/literature/gene/CLRN2	645104	ENSG00000249581	33939	https://pubmed.ncbi.nlm.nih.gov/?term=CLRN2	None	None	5405	7
CLTC	clathrin heavy chain	Intellectual disability, autosomal dominant 56?0013524;Undetermined early-onset epileptic encephalopathy?0015028;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/CLTC	1213	ENSG00000141367	2092	https://pubmed.ncbi.nlm.nih.gov/?term=CLTC	None	None	24627	1457
CLTCL1	clathrin heavy chain like 1	Congenital insensitivity to pain with severe intellectual disability?0021890	https://raresource.nih.gov/literature/gene/CLTCL1	8218	ENSG00000070371	2093	https://pubmed.ncbi.nlm.nih.gov/?term=CLTCL1	None	None	38995	65
CLXN	calaxin	Ciliary dyskinesia, primary, 53?0026902	https://raresource.nih.gov/literature/gene/CLXN	79645	ENSG00000034239	25678	https://pubmed.ncbi.nlm.nih.gov/?term=CLXN	None	None	None	24
CMPK2	cytidine/uridine monophosphate kinase 2	Bilateral striopallidodentate calcinosis?0006406;Basal ganglia calcification, idiopathic, 10, autosomal recessive?0027334	https://raresource.nih.gov/literature/gene/CMPK2	129607	ENSG00000134326	27015	https://pubmed.ncbi.nlm.nih.gov/?term=CMPK2	None	None	10075	1044
CNBP	CCHC-type zinc finger nucleic acid binding protein	Myotonic dystrophy type 2?0009728	https://raresource.nih.gov/literature/gene/CNBP	7555	ENSG00000169714	13164	https://pubmed.ncbi.nlm.nih.gov/?term=CNBP	None	None	9606	975
CNGA1	cyclic nucleotide gated channel subunit alpha 1	Retinitis pigmentosa 49?0015701;Retinitis pigmentosa?0005694;CNGA1-related retinopathy?0026555	https://raresource.nih.gov/literature/gene/CNGA1	1259	ENSG00000198515	2148	https://pubmed.ncbi.nlm.nih.gov/?term=CNGA1	None	None	29885	184
CNGA2	cyclic nucleotide gated channel subunit alpha 2	Congenital anosmia?0009486	https://raresource.nih.gov/literature/gene/CNGA2	1260	ENSG00000183862	2149	https://pubmed.ncbi.nlm.nih.gov/?term=CNGA2	None	None	3242	103
CNGA3	cyclic nucleotide gated channel subunit alpha 3	Achromatopsia 2?0009649;Cone-rod dystrophy?0010790;Achromatopsia?0015015;CNGA3-related retinopathy?0026435	https://raresource.nih.gov/literature/gene/CNGA3	1261	ENSG00000144191	2150	https://pubmed.ncbi.nlm.nih.gov/?term=CNGA3	None	None	22146	289
CNGB1	cyclic nucleotide gated channel subunit beta 1	CNGB1-related retinopathy?0026553;Retinitis pigmentosa 45?0015704	https://raresource.nih.gov/literature/gene/CNGB1	1258	ENSG00000070729	2151	https://pubmed.ncbi.nlm.nih.gov/?term=CNGB1	None	None	24023	120
CNGB3	cyclic nucleotide gated channel subunit beta 3	Achromatopsia?0015015;CNGB3-related retinopathy?0026221;Achromatopsia 3?0009650;Cone dystrophy?0011897	https://raresource.nih.gov/literature/gene/CNGB3	54714	ENSG00000170289	2153	https://pubmed.ncbi.nlm.nih.gov/?term=CNGB3	None	None	64515	200
CNKSR2	connector enhancer of kinase suppressor of Ras 2	Intellectual disability, X-linked, syndromic, Houge type?0015282;Non-syndromic X-linked intellectual disability?0018640;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/CNKSR2	22866	ENSG00000149970	19701	https://pubmed.ncbi.nlm.nih.gov/?term=CNKSR2	None	None	44164	125
CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome?0022484;Renal hypomagnesemia 6?0012155;Hypomagnesemia, seizures, and intellectual disability 1?0025248	https://raresource.nih.gov/literature/gene/CNNM2	54805	ENSG00000148842	103	https://pubmed.ncbi.nlm.nih.gov/?term=CNNM2	None	None	63474	128
CNNM4	cyclin and CBS domain divalent metal cation transport mediator 4	Jalili syndrome?0001463	https://raresource.nih.gov/literature/gene/CNNM4	26504	ENSG00000158158	105	https://pubmed.ncbi.nlm.nih.gov/?term=CNNM4	None	None	23182	79
CNOT1	CCR4-NOT transcription complex subunit 1	Holoprosencephaly 12 with or without pancreatic agenesis?0025743;Pancreatic agenesis-holoprosencephaly syndrome?0017992	https://raresource.nih.gov/literature/gene/CNOT1	23019	ENSG00000125107	7877	https://pubmed.ncbi.nlm.nih.gov/?term=CNOT1	None	None	42600	240
CNOT3	CCR4-NOT transcription complex subunit 3	Precursor T-cell acute lymphoblastic leukemia?0019694	https://raresource.nih.gov/literature/gene/CNOT3	4849	ENSG00000088038	7879	https://pubmed.ncbi.nlm.nih.gov/?term=CNOT3	None	None	8406	111
CNP	2'',3''-cyclic nucleotide 3'' phosphodiesterase	Leukodystrophy, hypomyelinating, 20?0025816	https://raresource.nih.gov/literature/gene/CNP	1267	ENSG00000173786	2158	https://pubmed.ncbi.nlm.nih.gov/?term=CNP	None	None	3185	3095
CNPY3	canopy FGF signaling regulator 3	Developmental and epileptic encephalopathy, 60?0016270	https://raresource.nih.gov/literature/gene/CNPY3	10695	ENSG00000137161	11968	https://pubmed.ncbi.nlm.nih.gov/?term=CNPY3	None	None	5299	44
CNTN1	contactin 1	Compton-North congenital myopathy?0017111	https://raresource.nih.gov/literature/gene/CNTN1	1272	ENSG00000018236	2171	https://pubmed.ncbi.nlm.nih.gov/?term=CNTN1	None	None	92359	881
CNTN2	contactin 2	Epilepsy, familial adult myoclonic, 5?0018086;Benign adult familial myoclonic epilepsy?0016758	https://raresource.nih.gov/literature/gene/CNTN2	6900	ENSG00000184144	2172	https://pubmed.ncbi.nlm.nih.gov/?term=CNTN2	None	None	15240	2364
CNTNAP1	contactin associated protein 1	Lethal congenital contracture syndrome 7?0018564;Neuropathy, congenital hypomyelinating, 3?0018567	https://raresource.nih.gov/literature/gene/CNTNAP1	8506	ENSG00000108797	8011	https://pubmed.ncbi.nlm.nih.gov/?term=CNTNAP1	None	None	5682	767
CNTNAP2	contactin associated protein 2	Cortical dysplasia-focal epilepsy syndrome?0016997	https://raresource.nih.gov/literature/gene/CNTNAP2	26047	ENSG00000174469	13830	https://pubmed.ncbi.nlm.nih.gov/?term=CNTNAP2	None	None	893748	35
COA3	cytochrome c oxidase assembly factor 3	Mitochondrial complex IV deficiency, nuclear type 14?0016411	https://raresource.nih.gov/literature/gene/COA3	28958	ENSG00000183978	24990	https://pubmed.ncbi.nlm.nih.gov/?term=COA3	None	None	446	29
COA5	cytochrome c oxidase assembly factor 5	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3?0018572;Fatal infantile encephalocardiomyopathy?0016569	https://raresource.nih.gov/literature/gene/COA5	493753	ENSG00000183513	33848	https://pubmed.ncbi.nlm.nih.gov/?term=COA5	None	None	4116	11
COA6	cytochrome c oxidase assembly factor 6	Fatal infantile encephalocardiomyopathy?0016569;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4?0018573	https://raresource.nih.gov/literature/gene/COA6	388753	ENSG00000168275	18025	https://pubmed.ncbi.nlm.nih.gov/?term=COA6	None	None	6908	34
COA7	cytochrome c oxidase assembly factor 7	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3?0025244	https://raresource.nih.gov/literature/gene/COA7	65260	ENSG00000162377	25716	https://pubmed.ncbi.nlm.nih.gov/?term=COA7	None	None	6666	25
COA8	cytochrome c oxidase assembly factor 8	Mitochondrial complex IV deficiency, nuclear type 17?0016414;Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy?0021819	https://raresource.nih.gov/literature/gene/COA8	84334	ENSG00000256053	20492	https://pubmed.ncbi.nlm.nih.gov/?term=COA8	None	None	61	22
COASY	Coenzyme A synthase	Pontocerebellar hypoplasia, type 12?0018030;Neurodegeneration with brain iron accumulation 6?0012571	https://raresource.nih.gov/literature/gene/COASY	80347	ENSG00000068120	29932	https://pubmed.ncbi.nlm.nih.gov/?term=COASY	None	None	2084	260
COCH	cochlin	Autosomal dominant nonsyndromic hearing loss?0016791;Hearing loss, autosomal recessive 110?0018150;Autosomal dominant nonsyndromic hearing loss 9?0018105	https://raresource.nih.gov/literature/gene/COCH	1690	ENSG00000100473	2180	https://pubmed.ncbi.nlm.nih.gov/?term=COCH	None	None	6371	284
COG1	component of oligomeric golgi complex 1	COG1 congenital disorder of glycosylation?0010226	https://raresource.nih.gov/literature/gene/COG1	9382	ENSG00000166685	6545	https://pubmed.ncbi.nlm.nih.gov/?term=COG1	None	None	5702	62
COG2	component of oligomeric golgi complex 2	Congenital disorder of glycosylation, type IIq?0017720	https://raresource.nih.gov/literature/gene/COG2	22796	ENSG00000135775	6546	https://pubmed.ncbi.nlm.nih.gov/?term=COG2	None	None	20026	387
COG3	component of oligomeric golgi complex 3	Congenital disorder of glycosylation, type IIbb?0026880	https://raresource.nih.gov/literature/gene/COG3	83548	ENSG00000136152	18619	https://pubmed.ncbi.nlm.nih.gov/?term=COG3	None	None	19633	158
COG4	component of oligomeric golgi complex 4	Microcephalic osteodysplastic dysplasia, Saul-Wilson type?0016736;COG4-congenital disorder of glycosylation?0012412	https://raresource.nih.gov/literature/gene/COG4	25839	ENSG00000103051	18620	https://pubmed.ncbi.nlm.nih.gov/?term=COG4	None	None	14197	56
COG5	component of oligomeric golgi complex 5	COG5-congenital disorder of glycosylation?0012348	https://raresource.nih.gov/literature/gene/COG5	10466	ENSG00000164597	14857	https://pubmed.ncbi.nlm.nih.gov/?term=COG5	None	None	135944	53
COG6	component of oligomeric golgi complex 6	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome?0017562;COG6-congenital disorder of glycosylation?0010944	https://raresource.nih.gov/literature/gene/COG6	57511	ENSG00000133103	18621	https://pubmed.ncbi.nlm.nih.gov/?term=COG6	None	None	31923	63
COG7	component of oligomeric golgi complex 7	COG7 congenital disorder of glycosylation?0009842	https://raresource.nih.gov/literature/gene/COG7	91949	ENSG00000168434	18622	https://pubmed.ncbi.nlm.nih.gov/?term=COG7	None	None	18523	41
COG8	component of oligomeric golgi complex 8	COG8-congenital disorder of glycosylation?0012411	https://raresource.nih.gov/literature/gene/COG8	84342	ENSG00000213380	18623	https://pubmed.ncbi.nlm.nih.gov/?term=COG8	None	None	4240	65
COL10A1	collagen type X alpha 1 chain	Metaphyseal chondrodysplasia, Schmid type?0007029	https://raresource.nih.gov/literature/gene/COL10A1	1300	ENSG00000123500	2185	https://pubmed.ncbi.nlm.nih.gov/?term=COL10A1	None	None	2639	770
COL11A1	collagen type XI alpha 1 chain	Fibrochondrogenesis 1?0024653;Marshall syndrome?0006984;Autosomal dominant nonsyndromic hearing loss?0016791;Stickler syndrome type 2?0005020;Fibrochondrogenesis?0002321;Hearing loss, autosomal dominant 37?0025751;Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome?0021838	https://raresource.nih.gov/literature/gene/COL11A1	1301	ENSG00000060718	2186	https://pubmed.ncbi.nlm.nih.gov/?term=COL11A1	None	None	96375	672
COL11A2	collagen type XI alpha 2 chain	Otospondylomegaepiphyseal dysplasia, autosomal recessive?0025881;Hearing loss, autosomal recessive?0018117;Autosomal dominant nonsyndromic hearing loss 13?0018108;Fibrochondrogenesis 2?0015815;Autosomal dominant nonsyndromic hearing loss?0016791;Otospondylomegaepiphyseal dysplasia, autosomal dominant?0005021;Fibrochondrogenesis?0002321;Otospondylomegaepiphyseal dysplasia?0004130;Autosomal recessive nonsyndromic hearing loss 53?0022616	https://raresource.nih.gov/literature/gene/COL11A2	1302	ENSG00000204248	2187	https://pubmed.ncbi.nlm.nih.gov/?term=COL11A2	None	None	13084	20333
COL12A1	collagen type XII alpha 1 chain	Ullrich congenital muscular dystrophy?0004769;Bethlem myopathy 2?0016121;Bethlem myopathy?0000873;Ullrich congenital muscular dystrophy 2?0016120	https://raresource.nih.gov/literature/gene/COL12A1	1303	ENSG00000111799	2188	https://pubmed.ncbi.nlm.nih.gov/?term=COL12A1	None	None	46928	255
COL13A1	collagen type XIII alpha 1 chain	Congenital myasthenic syndrome 19?0016153;Postsynaptic congenital myasthenic syndrome?0015022	https://raresource.nih.gov/literature/gene/COL13A1	1305	ENSG00000197467	2190	https://pubmed.ncbi.nlm.nih.gov/?term=COL13A1	None	None	59427	94
COL17A1	collagen type XVII alpha 1 chain	Epithelial recurrent erosion dystrophy?0017338;Late-onset junctional epidermolysis bullosa?0012921;Epidermolysis bullosa, junctional 4, intermediate?0025633;Localized junctional epidermolysis bullosa, non-Herlitz type?0012923;Generalized junctional epidermolysis bullosa non-Herlitz type?0012922	https://raresource.nih.gov/literature/gene/COL17A1	1308	ENSG00000065618	2194	https://pubmed.ncbi.nlm.nih.gov/?term=COL17A1	None	None	22677	1074
COL18A1	collagen type XVIII alpha 1 chain	Knobloch syndrome 1?0000380;Hereditary glaucoma, primary closed-angle?0027267	https://raresource.nih.gov/literature/gene/COL18A1	80781	ENSG00000182871	2195	https://pubmed.ncbi.nlm.nih.gov/?term=COL18A1	None	None	43903	2651
COL1A1	collagen type I alpha 1 chain	High bone mass osteogenesis imperfecta?0021366;COL1A1-related Ehlers-Danlos syndrome?0027285;Osteogenesis imperfecta type III?0008695;Ehlers-Danlos syndrome, classic type?0002088;Ehlers-Danlos syndrome, arthrochalasia type?0002084;Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1?0018316;Infantile cortical hyperostosis?0001051;Osteogenesis imperfecta with normal sclerae, dominant form?0008696;Ehlers-Danlos/osteogenesis imperfecta syndrome?0017156;Osteogenesis imperfecta, perinatal lethal?0010142;Osteogenesis imperfecta type I?0008694	https://raresource.nih.gov/literature/gene/COL1A1	1277	ENSG00000108821	2197	https://pubmed.ncbi.nlm.nih.gov/?term=COL1A1	None	None	9761	6649
COL1A2	collagen type I alpha 2 chain	Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2?0018317;Ehlers-Danlos syndrome, cardiac valvular type?0012613;High bone mass osteogenesis imperfecta?0021366;Osteogenesis imperfecta type III?0008695;COL1A2-related osteogenesis imperfecta?0027284;Ehlers-Danlos syndrome, arthrochalasia type, 2?0016256;Osteogenesis imperfecta, perinatal lethal?0010142;Osteogenesis imperfecta with normal sclerae, dominant form?0008696;Ehlers-Danlos/osteogenesis imperfecta syndrome?0017156;COL1A2-related Ehlers-Danlos syndrome?0027289	https://raresource.nih.gov/literature/gene/COL1A2	1278	ENSG00000164692	2198	https://pubmed.ncbi.nlm.nih.gov/?term=COL1A2	None	None	15650	3276
COL25A1	collagen type XXV alpha 1 chain	Ptosis, hereditary congenital, 1?0016798;Fibrosis of extraocular muscles, congenital, 5?0018164;Congenital fibrosis of extraocular muscles?0012590	https://raresource.nih.gov/literature/gene/COL25A1	84570	ENSG00000188517	18603	https://pubmed.ncbi.nlm.nih.gov/?term=COL25A1	None	None	180599	557
COL27A1	collagen type XXVII alpha 1 chain	Steel syndrome?0017735	https://raresource.nih.gov/literature/gene/COL27A1	85301	ENSG00000196739	22986	https://pubmed.ncbi.nlm.nih.gov/?term=COL27A1	None	None	59439	71
COL2A1	collagen type II alpha 1 chain	Achondrogenesis type II?0008713;Familial avascular necrosis of the femoral head?0010914;Spondyloepiphyseal dysplasia congenita?0004987;COL2A1-related spondyloepiphyseal dysplasia?0027287;Spondyloepiphyseal dysplasia with metatarsal shortening?0010220;Spondylometaphyseal dysplasia, Schmidt type?0000504;Platyspondylic dysplasia, Torrance type?0004382;Dysspondyloenchondromatosis?0019051;Autosomal dominant rhegmatogenous retinal detachment?0017104;Spondyloepimetaphyseal dysplasia, Strudwick type?0000134;Spondyloepiphyseal dysplasia, Stanescu type?0017812;Stickler syndrome type 1?0005018;Avascular necrosis of femoral head, primary, 1?0025946;Hypochondrogenesis?0016815;Multiple epiphyseal dysplasia, Beighton type?0017012;Namaqualand hip dysplasia?0016812;Stickler syndrome, type I, nonsyndromic ocular?0015461;Legg-Calve-Perthes disease?0006874;Spondyloperipheral dysplasia?0004994;Kniest dysplasia?0006841	https://raresource.nih.gov/literature/gene/COL2A1	1280	ENSG00000139219	2200	https://pubmed.ncbi.nlm.nih.gov/?term=COL2A1	None	None	10000	7133
COL3A1	collagen type III alpha 1 chain	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome?0025722;Tetralogy of Fallot?0002245;Ehlers-Danlos syndrome, dominant type 4?0024560;Metageria?0006543;Ehlers-Danlos syndrome, type 4?0002082	https://raresource.nih.gov/literature/gene/COL3A1	1281	ENSG00000168542	2201	https://pubmed.ncbi.nlm.nih.gov/?term=COL3A1	None	None	17788	1962
COL4A1	collagen type IV alpha 1 chain	Retinal arterial tortuosity?0016693;Familial schizencephaly?0017876;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome?0010889;Familial porencephaly?0002258;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant?0017855;Brain small vessel disease 1 with or without ocular anomalies?0015107	https://raresource.nih.gov/literature/gene/COL4A1	1282	ENSG00000187498	2202	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A1	None	None	42196	995
COL4A2	collagen type IV alpha 2 chain	Porencephaly 2?0015808;Familial porencephaly?0002258	https://raresource.nih.gov/literature/gene/COL4A2	1284	ENSG00000134871	2203	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A2	None	None	54494	537
COL4A3	collagen type IV alpha 3 chain	Alport syndrome 3b, autosomal recessive?0026876;Autosomal dominant Alport syndrome?0000624;Digenic Alport syndrome?0026932	https://raresource.nih.gov/literature/gene/COL4A3	1285	ENSG00000169031	2204	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A3	None	None	61046	833
COL4A4	collagen type IV alpha 4 chain	Autosomal recessive Alport syndrome?0000625;Digenic Alport syndrome?0026932	https://raresource.nih.gov/literature/gene/COL4A4	1286	ENSG00000081052	2206	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A4	None	None	63668	508
COL4A5	collagen type IV alpha 5 chain	Digenic Alport syndrome?0026932;X-linked Alport syndrome?0016774	https://raresource.nih.gov/literature/gene/COL4A5	1287	ENSG00000188153	2207	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A5	None	None	44618	949
COL4A6	collagen type IV alpha 6 chain	Hearing loss, X-linked 6?0018097;X-linked nonsyndromic hearing loss?0016790	https://raresource.nih.gov/literature/gene/COL4A6	1288	ENSG00000197565	2208	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A6	None	None	44230	142
COL5A1	collagen type V alpha 1 chain	Ehlers-Danlos syndrome, classic type, 1?0025140;Ehlers-Danlos syndrome, classic type?0002088	https://raresource.nih.gov/literature/gene/COL5A1	1289	ENSG00000130635	2209	https://pubmed.ncbi.nlm.nih.gov/?term=COL5A1	None	None	87390	115
COL5A2	collagen type V alpha 2 chain	Ehlers-Danlos syndrome, classic type, 2?0025141;Ehlers-Danlos syndrome, classic type?0002088	https://raresource.nih.gov/literature/gene/COL5A2	1290	ENSG00000204262	2210	https://pubmed.ncbi.nlm.nih.gov/?term=COL5A2	None	None	52886	397
COL6A1	collagen type VI alpha 1 chain	Ullrich congenital muscular dystrophy 1A?0024685;Bethlem myopathy 1A?0025413;Ullrich congenital muscular dystrophy?0004769;Bethlem myopathy?0000873;Intermediate collagen VI-related muscular dystrophy?0027027	https://raresource.nih.gov/literature/gene/COL6A1	1291	ENSG00000142156	2211	https://pubmed.ncbi.nlm.nih.gov/?term=COL6A1	None	None	13529	574
COL6A2	collagen type VI alpha 2 chain	Ullrich congenital muscular dystrophy 1B?0026982;Bethlem myopathy 1B?0026980;Ullrich congenital muscular dystrophy?0004769;Bethlem myopathy?0000873;Intermediate collagen VI-related muscular dystrophy?0027027	https://raresource.nih.gov/literature/gene/COL6A2	1292	ENSG00000142173	2212	https://pubmed.ncbi.nlm.nih.gov/?term=COL6A2	None	None	17478	196
COL6A3	collagen type VI alpha 3 chain	Dystonia 27?0017819;Ullrich congenital muscular dystrophy?0004769;Ullrich congenital muscular dystrophy 1C?0026983;Bethlem myopathy 1C?0026981;Bethlem myopathy?0000873;Intermediate collagen VI-related muscular dystrophy?0027027	https://raresource.nih.gov/literature/gene/COL6A3	1293	ENSG00000163359	2213	https://pubmed.ncbi.nlm.nih.gov/?term=COL6A3	None	None	36519	517
COL7A1	collagen type VII alpha 1 chain	Recessive dystrophic epidermolysis bullosa-generalized other?0012794;Generalized dominant dystrophic epidermolysis bullosa?0002139;Nonsyndromic congenital nail disorder 8?0024828;Recessive dystrophic epidermolysis bullosa inversa?0016720;Dystrophic epidermolysis bullosa, nails only?0020032;Transient bullous dermolysis of the newborn?0010010;Pretibial dystrophic epidermolysis bullosa?0002155;Epidermolysis bullosa pruriginosa?0016779;Acral dystrophic epidermolysis bullosa?0020031;Recessive dystrophic epidermolysis bullosa?0006308	https://raresource.nih.gov/literature/gene/COL7A1	1294	ENSG00000114270	2214	https://pubmed.ncbi.nlm.nih.gov/?term=COL7A1	None	None	15619	761
COL8A2	collagen type VIII alpha 2 chain	Fuchs' endothelial dystrophy?0010018;Posterior polymorphous corneal dystrophy?0016882;Corneal dystrophy, Fuchs endothelial, 1?0018216;Posterior polymorphous corneal dystrophy 2?0018213	https://raresource.nih.gov/literature/gene/COL8A2	1296	ENSG00000171812	2216	https://pubmed.ncbi.nlm.nih.gov/?term=COL8A2	None	None	14022	152
COL9A1	collagen type IX alpha 1 chain	Stickler syndrome, type 4?0018358;Epiphyseal dysplasia, multiple, 6?0013376;Multiple epiphyseal dysplasia due to collagen 9 anomaly?0015024	https://raresource.nih.gov/literature/gene/COL9A1	1297	ENSG00000112280	2217	https://pubmed.ncbi.nlm.nih.gov/?term=COL9A1	None	None	35529	365
COL9A2	collagen type IX alpha 2 chain	Epiphyseal dysplasia, multiple, 2?0009791;Stickler syndrome, type 5?0018359;Multiple epiphyseal dysplasia due to collagen 9 anomaly?0015024	https://raresource.nih.gov/literature/gene/COL9A2	1298	ENSG00000049089	2218	https://pubmed.ncbi.nlm.nih.gov/?term=COL9A2	None	None	9426	390
COL9A3	collagen type IX alpha 3 chain	Stickler syndrome, type 6?0025684;Multiple epiphyseal dysplasia due to collagen 9 anomaly?0015024;Epiphyseal dysplasia, multiple, 3?0009792	https://raresource.nih.gov/literature/gene/COL9A3	1299	ENSG00000092758	2219	https://pubmed.ncbi.nlm.nih.gov/?term=COL9A3	None	None	10003	407
COLEC10	collectin subfamily member 10	3MC syndrome?0001118;3MC syndrome 3?0008531	https://raresource.nih.gov/literature/gene/COLEC10	10584	ENSG00000184374	2220	https://pubmed.ncbi.nlm.nih.gov/?term=COLEC10	None	None	41922	123
COLEC11	collectin subfamily member 11	3MC syndrome 2?0018428;3MC syndrome?0001118	https://raresource.nih.gov/literature/gene/COLEC11	78989	ENSG00000118004	17213	https://pubmed.ncbi.nlm.nih.gov/?term=COLEC11	None	None	23417	326
COLGALT1	collagen beta(1-O)galactosyltransferase 1	Brain small vessel disease 3?0026049;Familial porencephaly?0002258	https://raresource.nih.gov/literature/gene/COLGALT1	79709	ENSG00000130309	26182	https://pubmed.ncbi.nlm.nih.gov/?term=COLGALT1	None	None	10809	41
COLQ	collagen like tail subunit of asymmetric acetylcholinesterase	Congenital myasthenic syndrome 5?0018210	https://raresource.nih.gov/literature/gene/COLQ	8292	ENSG00000206561	2226	https://pubmed.ncbi.nlm.nih.gov/?term=COLQ	None	None	27289	240
COMP	cartilage oligomeric matrix protein	Multiple epiphyseal dysplasia type 1?0002180;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome?0004540;Carpal tunnel syndrome 2?0025650	https://raresource.nih.gov/literature/gene/COMP	1311	ENSG00000105664	2227	https://pubmed.ncbi.nlm.nih.gov/?term=COMP	None	None	4312	2364
COPA	COPI coat complex subunit alpha	Autoimmune interstitial lung disease-arthritis syndrome?0017762	https://raresource.nih.gov/literature/gene/COPA	1314	ENSG00000122218	2230	https://pubmed.ncbi.nlm.nih.gov/?term=COPA	None	None	21758	647
COPB1	COPI coat complex subunit beta 1	Intellectual disability-early-onset cataract-microcephaly syndrome?0026645	https://raresource.nih.gov/literature/gene/COPB1	1315	ENSG00000129083	2231	https://pubmed.ncbi.nlm.nih.gov/?term=COPB1	None	None	9095	352
COPB2	COPI coat complex subunit beta 2	Microcephaly 19, primary, autosomal recessive?0016253;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/COPB2	9276	ENSG00000184432	2232	https://pubmed.ncbi.nlm.nih.gov/?term=COPB2	None	None	12081	75
COPG1	COPI coat complex subunit gamma 1	Non-severe combined immunodeficiency due to COPG1 deficiency?0026452	https://raresource.nih.gov/literature/gene/COPG1	22820	ENSG00000181789	2236	https://pubmed.ncbi.nlm.nih.gov/?term=COPG1	None	None	10576	87
COQ2	coenzyme Q2, polyprenyltransferase	Coenzyme Q10 deficiency, primary, 1?0018378;Multiple system atrophy?0007079	https://raresource.nih.gov/literature/gene/COQ2	27235	ENSG00000173085	25223	https://pubmed.ncbi.nlm.nih.gov/?term=COQ2	None	None	9758	230
COQ4	coenzyme Q4	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome?0017796;Spastic ataxia 10, autosomal recessive?0026908	https://raresource.nih.gov/literature/gene/COQ4	51117	ENSG00000167113	19693	https://pubmed.ncbi.nlm.nih.gov/?term=COQ4	None	None	5061	77
COQ5	coenzyme Q5, methyltransferase	Coenzyme q10 deficiency, primary, 9?0016403	https://raresource.nih.gov/literature/gene/COQ5	84274	ENSG00000110871	28722	https://pubmed.ncbi.nlm.nih.gov/?term=COQ5	None	None	11351	39
COQ6	coenzyme Q6, monooxygenase	Familial steroid-resistant nephrotic syndrome with sensorineural deafness?0017295	https://raresource.nih.gov/literature/gene/COQ6	51004	ENSG00000119723	20233	https://pubmed.ncbi.nlm.nih.gov/?term=COQ6	None	None	3952	74
COQ7	coenzyme Q7, hydroxylase	COQ7-related distal hereditary motor neuropathy?0026944;Neuronopathy, distal hereditary motor, autosomal recessive 9?0026888;Primary coenzyme Q10 deficiency 8?0025013	https://raresource.nih.gov/literature/gene/COQ7	10229	ENSG00000167186	2244	https://pubmed.ncbi.nlm.nih.gov/?term=COQ7	None	None	4906	425
COQ8A	coenzyme Q8A	Autosomal recessive ataxia due to ubiquinone deficiency?0010294	https://raresource.nih.gov/literature/gene/COQ8A	56997	ENSG00000163050	16812	https://pubmed.ncbi.nlm.nih.gov/?term=COQ8A	None	None	37923	136
COQ8B	coenzyme Q8B	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Nephrotic syndrome, type 9?0015989	https://raresource.nih.gov/literature/gene/COQ8B	79934	ENSG00000123815	19041	https://pubmed.ncbi.nlm.nih.gov/?term=COQ8B	None	None	7218	67
COQ9	coenzyme Q9	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome?0017470	https://raresource.nih.gov/literature/gene/COQ9	57017	ENSG00000088682	25302	https://pubmed.ncbi.nlm.nih.gov/?term=COQ9	None	None	3207	81
CORIN	corin, serine peptidase	Cardiomyopathy, familial hypertrophic, 30, atrial?0026985;Preeclampsia/eclampsia 5?0018393	https://raresource.nih.gov/literature/gene/CORIN	10699	ENSG00000145244	19012	https://pubmed.ncbi.nlm.nih.gov/?term=CORIN	None	None	86267	881
CORO1A	coronin 1A	Severe combined immunodeficiency due to CORO1A deficiency?0017144	https://raresource.nih.gov/literature/gene/CORO1A	11151	ENSG00000102879	2252	https://pubmed.ncbi.nlm.nih.gov/?term=CORO1A	None	None	3652	1365
COX10	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10	Mitochondrial complex IV deficiency, nuclear type 3?0016404	https://raresource.nih.gov/literature/gene/COX10	1352	ENSG00000006695	2260	https://pubmed.ncbi.nlm.nih.gov/?term=COX10	None	None	38684	173
COX11	cytochrome c oxidase copper chaperone COX11	Mitochondrial complex IV deficiency, nuclear type 23?0026734	https://raresource.nih.gov/literature/gene/COX11	1353	ENSG00000166260	2261	https://pubmed.ncbi.nlm.nih.gov/?term=COX11	None	None	2147	105
COX14	cytochrome c oxidase assembly factor COX14	Mitochondrial complex IV deficiency, nuclear type 10?0016408	https://raresource.nih.gov/literature/gene/COX14	84987	ENSG00000178449	28216	https://pubmed.ncbi.nlm.nih.gov/?term=COX14	None	None	4102	29
COX15	cytochrome c oxidase assembly homolog COX15	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2?0018571;Fatal infantile encephalocardiomyopathy?0016569	https://raresource.nih.gov/literature/gene/COX15	1355	ENSG00000014919	2263	https://pubmed.ncbi.nlm.nih.gov/?term=COX15	None	None	6711	85
COX16	cytochrome c oxidase assembly factor COX16	Mitochondrial complex IV deficiency, nuclear type 22?0016448	https://raresource.nih.gov/literature/gene/COX16	51241	ENSG00000133983	20213	https://pubmed.ncbi.nlm.nih.gov/?term=COX16	None	None	561	18
COX20	cytochrome c oxidase assembly factor COX20	Mitochondrial complex IV deficiency, nuclear type 11?0016409	https://raresource.nih.gov/literature/gene/COX20	116228	ENSG00000203667	26970	https://pubmed.ncbi.nlm.nih.gov/?term=COX20	None	None	5887	45
COX4I1	cytochrome c oxidase subunit 4I1	Mitochondrial complex IV deficiency, nuclear type 16?0016413	https://raresource.nih.gov/literature/gene/COX4I1	1327	ENSG00000131143	2265	https://pubmed.ncbi.nlm.nih.gov/?term=COX4I1	None	None	4546	597
COX4I2	cytochrome c oxidase subunit 4I2	Pancreatic insufficiency-anemia-hyperostosis syndrome?0017095	https://raresource.nih.gov/literature/gene/COX4I2	84701	ENSG00000131055	16232	https://pubmed.ncbi.nlm.nih.gov/?term=COX4I2	None	None	3458	278
COX5A	cytochrome c oxidase subunit 5A	Mitochondrial complex IV deficiency, nuclear type 20?0016417	https://raresource.nih.gov/literature/gene/COX5A	9377	ENSG00000178741	2267	https://pubmed.ncbi.nlm.nih.gov/?term=COX5A	None	None	8134	10215
COX6A1	cytochrome c oxidase subunit 6A1	Charcot-Marie-Tooth disease recessive intermediate D?0017723	https://raresource.nih.gov/literature/gene/COX6A1	1337	ENSG00000111775	2277	https://pubmed.ncbi.nlm.nih.gov/?term=COX6A1	None	None	1885	66
COX6A2	cytochrome c oxidase subunit 6A2	Mitochondrial complex IV deficiency, nuclear type 18?0016415	https://raresource.nih.gov/literature/gene/COX6A2	1339	ENSG00000156885	2279	https://pubmed.ncbi.nlm.nih.gov/?term=COX6A2	None	None	1189	56
COX6B1	cytochrome c oxidase subunit 6B1	Mitochondrial complex IV deficiency, nuclear type 7?0016406	https://raresource.nih.gov/literature/gene/COX6B1	1340	ENSG00000126267	2280	https://pubmed.ncbi.nlm.nih.gov/?term=COX6B1	None	None	4465	70
COX7B	cytochrome c oxidase subunit 7B	Linear skin defects with multiple congenital anomalies 2?0015272;Linear skin defects with multiple congenital anomalies 1?0025427;Linear skin defects with multiple congenital anomalies?0003659	https://raresource.nih.gov/literature/gene/COX7B	1349	ENSG00000131174	2291	https://pubmed.ncbi.nlm.nih.gov/?term=COX7B	None	None	2200	55
COX8A	cytochrome c oxidase subunit 8A	Mitochondrial complex IV deficiency, nuclear type 15?0016412	https://raresource.nih.gov/literature/gene/COX8A	1351	ENSG00000176340	2294	https://pubmed.ncbi.nlm.nih.gov/?term=COX8A	None	None	62	10175
CP	ceruloplasmin	Deficiency of ferroxidase?0009499	https://raresource.nih.gov/literature/gene/CP	1356	ENSG00000047457	2295	https://pubmed.ncbi.nlm.nih.gov/?term=CP	None	None	19349	268
CPA6	carboxypeptidase A6	Generalized epilepsy with febrile seizures plus?0018641;Familial temporal lobe epilepsy 5?0018280;Febrile seizures, familial, 11?0018283	https://raresource.nih.gov/literature/gene/CPA6	57094	ENSG00000165078	17245	https://pubmed.ncbi.nlm.nih.gov/?term=CPA6	None	None	119055	624
CPAMD8	C3 and PZP like alpha-2-macroglobulin domain containing 8	Anterior segment dysgenesis 8?0017954	https://raresource.nih.gov/literature/gene/CPAMD8	27151	ENSG00000160111	23228	https://pubmed.ncbi.nlm.nih.gov/?term=CPAMD8	None	None	40340	10985
CPAP	centrosome assembly and centriole elongation protein	Microcephaly 6, primary, autosomal recessive?0015431;Seckel syndrome 4?0015687;Autosomal recessive primary microcephaly?0012117;Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/CPAP	55835	ENSG00000151849	17272	https://pubmed.ncbi.nlm.nih.gov/?term=CPAP	None	None	None	2166
CPE	carboxypeptidase E	BDV syndrome?0027308	https://raresource.nih.gov/literature/gene/CPE	1363	ENSG00000109472	2303	https://pubmed.ncbi.nlm.nih.gov/?term=CPE	None	None	39182	1312
CPLANE1	ciliogenesis and planar polarity effector complex subunit 1	Joubert syndrome?0006802;Joubert syndrome 17?0015824;Orofaciodigital syndrome type 6?0004412	https://raresource.nih.gov/literature/gene/CPLANE1	65250	ENSG00000197603	25801	https://pubmed.ncbi.nlm.nih.gov/?term=CPLANE1	None	None	53336	93
CPLX1	complexin 1	Developmental and epileptic encephalopathy, 63?0025799;4p partial monosomy syndrome?0007896	https://raresource.nih.gov/literature/gene/CPLX1	10815	ENSG00000168993	2309	https://pubmed.ncbi.nlm.nih.gov/?term=CPLX1	None	None	21061	159
CPOX	coproporphyrinogen oxidase	CPOX-related hereditary coproporphyria?0026471;Harderoporphyria?0025517;Hereditary coproporphyria?0006619	https://raresource.nih.gov/literature/gene/CPOX	1371	ENSG00000080819	2321	https://pubmed.ncbi.nlm.nih.gov/?term=CPOX	None	None	6910	10967
CPS1	carbamoyl-phosphate synthase 1	Congenital hyperammonemia, type I?0007269	https://raresource.nih.gov/literature/gene/CPS1	1373	ENSG00000021826	2323	https://pubmed.ncbi.nlm.nih.gov/?term=CPS1	None	None	75817	560
CPT1A	carnitine palmitoyltransferase 1A	Carnitine palmitoyl transferase 1A deficiency?0001120	https://raresource.nih.gov/literature/gene/CPT1A	1374	ENSG00000110090	2328	https://pubmed.ncbi.nlm.nih.gov/?term=CPT1A	None	None	35366	3315
CPT1C	carnitine palmitoyltransferase 1C	Hereditary spastic paraplegia 73?0017763	https://raresource.nih.gov/literature/gene/CPT1C	126129	ENSG00000169169	18540	https://pubmed.ncbi.nlm.nih.gov/?term=CPT1C	None	None	9084	150
CPT2	carnitine palmitoyltransferase 2	Carnitine palmitoyl transferase II deficiency, myopathic form?0017149;Carnitine palmitoyl transferase II deficiency, severe infantile form?0017150;Carnitine palmitoyl transferase II deficiency, neonatal form?0017151	https://raresource.nih.gov/literature/gene/CPT2	1376	ENSG00000157184	2330	https://pubmed.ncbi.nlm.nih.gov/?term=CPT2	None	None	7333	2055
CR1	complement C3b/C4b receptor 1 (Knops blood group)	Malaria?0006961	https://raresource.nih.gov/literature/gene/CR1	1378	ENSG00000203710	2334	https://pubmed.ncbi.nlm.nih.gov/?term=CR1	None	None	None	3132
CR2	complement C3d receptor 2	Immunodeficiency, common variable, 7?0015836	https://raresource.nih.gov/literature/gene/CR2	1380	ENSG00000117322	2336	https://pubmed.ncbi.nlm.nih.gov/?term=CR2	None	None	14834	4612
CRADD	CASP2 and RIPK1 domain containing adaptor with death domain	Intellectual disability, autosomal recessive 34?0022563;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/CRADD	8738	ENSG00000169372	2340	https://pubmed.ncbi.nlm.nih.gov/?term=CRADD	None	None	47789	125
CRAT	carnitine O-acetyltransferase	Neurodegeneration with brain iron accumulation 8?0025970	https://raresource.nih.gov/literature/gene/CRAT	1384	ENSG00000095321	2342	https://pubmed.ncbi.nlm.nih.gov/?term=CRAT	None	None	7322	35896
CRB1	crumbs cell polarity complex component 1	Nanophthalmia?0016637;Leber congenital amaurosis 8?0010881;Retinitis pigmentosa 12?0010376;Leber congenital amaurosis?0000634;Pigmented paravenous retinochoroidal atrophy?0017208	https://raresource.nih.gov/literature/gene/CRB1	23418	ENSG00000134376	2343	https://pubmed.ncbi.nlm.nih.gov/?term=CRB1	None	None	82457	409
CRB2	crumbs cell polarity complex component 2	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Ventriculomegaly-cystic kidney disease?0017757;Focal segmental glomerulosclerosis 9?0016070	https://raresource.nih.gov/literature/gene/CRB2	286204	ENSG00000148204	18688	https://pubmed.ncbi.nlm.nih.gov/?term=CRB2	None	None	12518	155
CRBN	cereblon	Intellectual disability, autosomal recessive 2?0022538;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/CRBN	51185	ENSG00000113851	30185	https://pubmed.ncbi.nlm.nih.gov/?term=CRBN	None	None	18377	878
CREB1	cAMP responsive element binding protein 1	Angiomatoid fibrous histiocytoma?0022303	https://raresource.nih.gov/literature/gene/CREB1	1385	ENSG00000118260	2345	https://pubmed.ncbi.nlm.nih.gov/?term=CREB1	None	None	26615	15093
CREB3L1	cAMP responsive element binding protein 3 like 1	Osteogenesis imperfecta type 16?0016072	https://raresource.nih.gov/literature/gene/CREB3L1	90993	ENSG00000157613	18856	https://pubmed.ncbi.nlm.nih.gov/?term=CREB3L1	None	None	17321	257
CREB3L3	cAMP responsive element binding protein 3 like 3	Hypertriglyceridemia 2?0027307	https://raresource.nih.gov/literature/gene/CREB3L3	84699	ENSG00000060566	18855	https://pubmed.ncbi.nlm.nih.gov/?term=CREB3L3	None	None	8299	204
CREBBP	CREB binding protein	Menke-Hennekam syndrome?0022371;Rubinstein-Taybi syndrome due to CREBBP mutations?0017534;Menke-Hennekam syndrome 1?0025241	https://raresource.nih.gov/literature/gene/CREBBP	1387	ENSG00000005339	2348	https://pubmed.ncbi.nlm.nih.gov/?term=CREBBP	None	None	67525	6090
CRELD1	cysteine rich with EGF like domains 1	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/CRELD1	78987	ENSG00000163703	14630	https://pubmed.ncbi.nlm.nih.gov/?term=CRELD1	None	None	5290	55
CRH	corticotropin releasing hormone	Autosomal dominant nocturnal frontal lobe epilepsy?0011918	https://raresource.nih.gov/literature/gene/CRH	1392	ENSG00000147571	2355	https://pubmed.ncbi.nlm.nih.gov/?term=CRH	None	None	1609	15676
CRIM1	cysteine rich transmembrane BMP regulator 1	Colobomatous macrophthalmia-microcornea syndrome?0017844	https://raresource.nih.gov/literature/gene/CRIM1	51232	ENSG00000150938	2359	https://pubmed.ncbi.nlm.nih.gov/?term=CRIM1	None	None	81167	118
CRIPTO	cripto, EGF-CFC family member	Microform holoprosencephaly?0017290;Lobar holoprosencephaly?0016830;Tetralogy of Fallot?0002245;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/CRIPTO	6997	ENSG00000241186	11701	https://pubmed.ncbi.nlm.nih.gov/?term=CRIPTO	None	None	None	2056
CRLF1	cytokine receptor like factor 1	Cold-induced sweating syndrome 1?0001611;Cold-induced sweating syndrome?0016983;Idiopathic achalasia?0005708	https://raresource.nih.gov/literature/gene/CRLF1	9244	ENSG00000006016	2364	https://pubmed.ncbi.nlm.nih.gov/?term=CRLF1	None	None	6413	305
CRLS1	cardiolipin synthase 1	Combined oxidative phosphorylation deficiency 57?0026705	https://raresource.nih.gov/literature/gene/CRLS1	54675	ENSG00000088766	16148	https://pubmed.ncbi.nlm.nih.gov/?term=CRLS1	None	None	202	266
CRPPA	CDP-L-ribitol pyrophosphorylase A	Congenital muscular dystrophy without intellectual disability?0027117;Walker-Warburg congenital muscular dystrophy?0002599;Muscle eye brain disease?0000156;Myopathy caused by variation in CRPPA?0026264;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7?0015829;Autosomal recessive limb-girdle muscular dystrophy type 2U?0017519	https://raresource.nih.gov/literature/gene/CRPPA	729920	ENSG00000214960	37276	https://pubmed.ncbi.nlm.nih.gov/?term=CRPPA	None	None	134939	254
CRTAP	cartilage associated protein	Cole-Carpenter syndrome?0001425;Osteogenesis imperfecta type 7?0008701	https://raresource.nih.gov/literature/gene/CRTAP	10491	ENSG00000170275	2379	https://pubmed.ncbi.nlm.nih.gov/?term=CRTAP	None	None	13870	357
CRX	cone-rod homeobox	Cone-rod dystrophy 2?0006145;Cone-rod dystrophy?0010790;Leber congenital amaurosis 7?0010880;Leber congenital amaurosis?0000634;CRX-related retinopathy?0027578;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/CRX	1406	ENSG00000105392	2383	https://pubmed.ncbi.nlm.nih.gov/?term=CRX	None	None	9334	692
CRYAA	crystallin alpha A	Congenital total cataract?0001159;Early-onset lamellar cataract?0013155;Cataract 9 multiple types?0015364;Cataract - microcornea syndrome?0001155;Early-onset anterior polar cataract?0001140;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/CRYAA	1409	ENSG00000160202	2388	https://pubmed.ncbi.nlm.nih.gov/?term=CRYAA	None	None	1789	229
CRYAB	crystallin alpha B	Cataract 16 multiple types?0024920;Early-onset lamellar cataract?0013155;Posterior subcapsular cataract?0016889;Familial isolated dilated cardiomyopathy?0027293;Myofibrillar myopathy 2?0017651;Fatal infantile hypertonic myofibrillar myopathy?0017296;Dilated cardiomyopathy 1II?0015916;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/CRYAB	1410	ENSG00000109846	2389	https://pubmed.ncbi.nlm.nih.gov/?term=CRYAB	None	None	3591	27
CRYBA1	crystallin beta A1	Early-onset lamellar cataract?0013155;Posterior subcapsular cataract?0016889;Early-onset sutural cataract?0016885;Cataract 10 multiple types?0024764;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/CRYBA1	1411	ENSG00000108255	2394	https://pubmed.ncbi.nlm.nih.gov/?term=CRYBA1	None	None	2391	110
CRYBA2	crystallin beta A2	Cataract 42?0024543;Early-onset anterior polar cataract?0001140;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/CRYBA2	1412	ENSG00000163499	2395	https://pubmed.ncbi.nlm.nih.gov/?term=CRYBA2	None	None	2860	29
CRYBA4	crystallin beta A4	Cataract 23?0024869;Early-onset lamellar cataract?0013155;Cataract - microcornea syndrome?0001155	https://raresource.nih.gov/literature/gene/CRYBA4	1413	ENSG00000196431	2396	https://pubmed.ncbi.nlm.nih.gov/?term=CRYBA4	None	None	4376	65
CRYBB1	crystallin beta B1	Cataract 17 multiple types?0024881;Cataract - microcornea syndrome?0001155;Pulverulent cataract?0016884;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/CRYBB1	1414	ENSG00000100122	2397	https://pubmed.ncbi.nlm.nih.gov/?term=CRYBB1	None	None	5338	106
CRYBB2	crystallin beta B2	Congenital total cataract?0001159;Cataract - microcornea syndrome?0001155;Cataract 3 multiple types?0015335;Early-onset sutural cataract?0016885;Pulverulent cataract?0016884;Early-onset posterior subcapsular cataract?0021846;Congenital blue dot cataract?0009508;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/CRYBB2	1415	ENSG00000244752	2398	https://pubmed.ncbi.nlm.nih.gov/?term=CRYBB2	None	None	7456	16
CRYBB3	crystallin beta B3	Cataract 22 multiple types?0024861;Early-onset anterior polar cataract?0001140;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/CRYBB3	1417	ENSG00000100053	2400	https://pubmed.ncbi.nlm.nih.gov/?term=CRYBB3	None	None	3157	44
CRYGB	crystallin gamma B	Congenital total cataract?0001159;Cataract 39 multiple types?0024969;Early-onset anterior polar cataract?0001140;Early-onset lamellar cataract?0013155	https://raresource.nih.gov/literature/gene/CRYGB	1419	ENSG00000182187	2409	https://pubmed.ncbi.nlm.nih.gov/?term=CRYGB	None	None	3266	26
CRYGC	crystallin gamma C	Early-onset lamellar cataract?0013155;Cataract - microcornea syndrome?0001155;Pulverulent cataract?0016884;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/CRYGC	1420	ENSG00000163254	2410	https://pubmed.ncbi.nlm.nih.gov/?term=CRYGC	None	None	1939	352
CRYGD	crystallin gamma D	Early-onset lamellar cataract?0013155;Cataract 4 multiple types?0001144;Cataract - microcornea syndrome?0001155;Pulverulent cataract?0016884;Congenital blue dot cataract?0009508;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/CRYGD	1421	ENSG00000118231	2411	https://pubmed.ncbi.nlm.nih.gov/?term=CRYGD	None	None	2672	1244
CRYGS	crystallin gamma S	Early-onset sutural cataract?0016885;Cataract 20 multiple types?0024544;Early-onset lamellar cataract?0013155	https://raresource.nih.gov/literature/gene/CRYGS	1427	ENSG00000213139	2417	https://pubmed.ncbi.nlm.nih.gov/?term=CRYGS	None	None	3351	43
CRYM	crystallin mu	Autosomal dominant nonsyndromic hearing loss 40?0018142;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/CRYM	1428	ENSG00000103316	2418	https://pubmed.ncbi.nlm.nih.gov/?term=CRYM	None	None	11304	102
CSF1R	colony stimulating factor 1 receptor	Leukoencephalopathy, diffuse hereditary, with spheroids 1?0010981;Early-onset calcifying leukoencephalopathy-skeletal dysplasia?0022246	https://raresource.nih.gov/literature/gene/CSF1R	1436	ENSG00000182578	2433	https://pubmed.ncbi.nlm.nih.gov/?term=CSF1R	None	None	29949	58
CSF2RA	colony stimulating factor 2 receptor subunit alpha	Hereditary pulmonary alveolar proteinosis?0004582;Surfactant metabolism dysfunction, pulmonary, 4?0015263	https://raresource.nih.gov/literature/gene/CSF2RA	1438	ENSG00000292357; ENSG00000198223	2435	https://pubmed.ncbi.nlm.nih.gov/?term=CSF2RA	None	None	26735	313
CSF2RB	colony stimulating factor 2 receptor subunit beta	Hereditary pulmonary alveolar proteinosis?0004582;Surfactant metabolism dysfunction, pulmonary, 5?0015793	https://raresource.nih.gov/literature/gene/CSF2RB	1439	ENSG00000100368	2436	https://pubmed.ncbi.nlm.nih.gov/?term=CSF2RB	None	None	8361	204
CSF3R	colony stimulating factor 3 receptor	Chronic neutrophilic leukemia?0010585;Atypical chronic myeloid leukemia, BCR-ABL1 negative?0019583;Hereditary neutrophilia?0017287;Autosomal recessive severe congenital neutropenia due to CSF3R deficiency?0017698	https://raresource.nih.gov/literature/gene/CSF3R	1441	ENSG00000119535	2439	https://pubmed.ncbi.nlm.nih.gov/?term=CSF3R	None	None	7690	1178
CSGALNACT1	chondroitin sulfate N-acetylgalactosaminyltransferase 1	Desbuquois syndrome?0001818	https://raresource.nih.gov/literature/gene/CSGALNACT1	55790	ENSG00000147408	24290	https://pubmed.ncbi.nlm.nih.gov/?term=CSGALNACT1	None	None	152239	72
CSNK1D	casein kinase 1 delta	Advanced sleep phase syndrome 2?0015922;Advanced sleep phase syndrome?0009242	https://raresource.nih.gov/literature/gene/CSNK1D	1453	ENSG00000141551	2452	https://pubmed.ncbi.nlm.nih.gov/?term=CSNK1D	None	None	12032	578
CSNK2A1	casein kinase 2 alpha 1	Okur-Chung neurodevelopmental syndrome?0015008	https://raresource.nih.gov/literature/gene/CSNK2A1	1457	ENSG00000101266	2457	https://pubmed.ncbi.nlm.nih.gov/?term=CSNK2A1	None	None	21579	1951
CSNK2B	casein kinase 2 beta	Poirier-Bienvenu neurodevelopmental syndrome?0027366;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/CSNK2B	1460	ENSG00000204435	2460	https://pubmed.ncbi.nlm.nih.gov/?term=CSNK2B	None	None	81	776
CSPP1	centrosome and spindle pole associated protein 1	Joubert syndrome 21?0015997;Meckel-Gruber syndrome?0003436;Joubert syndrome?0006802;Joubert syndrome with Jeune asphyxiating thoracic dystrophy?0017637	https://raresource.nih.gov/literature/gene/CSPP1	79848	ENSG00000104218	26193	https://pubmed.ncbi.nlm.nih.gov/?term=CSPP1	None	None	49144	57
CSRP3	cysteine and glycine rich protein 3	Dilated cardiomyopathy 1M?0015413;Hypertrophic cardiomyopathy 12?0024890;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/CSRP3	8048	ENSG00000129170	2472	https://pubmed.ncbi.nlm.nih.gov/?term=CSRP3	None	None	11523	1213
CST3	cystatin C	Age related macular degeneration 11?0024887;Hereditary cerebral amyloid angiopathy, Icelandic type?0016930	https://raresource.nih.gov/literature/gene/CST3	1471	ENSG00000101439	2475	https://pubmed.ncbi.nlm.nih.gov/?term=CST3	None	None	4861	8423
CST6	cystatin E/M	Ectodermal dysplasia 15, hypohidrotic/hair type?0016361	https://raresource.nih.gov/literature/gene/CST6	1474	ENSG00000175315	2478	https://pubmed.ncbi.nlm.nih.gov/?term=CST6	None	None	2336	234
CSTA	cystatin A	Peeling skin syndrome 4?0018426;Exfoliative ichthyosis?0017329	https://raresource.nih.gov/literature/gene/CSTA	1475	ENSG00000121552	2481	https://pubmed.ncbi.nlm.nih.gov/?term=CSTA	None	None	8121	327
CSTB	cystatin B	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome?0002057;Unverricht-Lundborg syndrome?0003876	https://raresource.nih.gov/literature/gene/CSTB	1476	ENSG00000160213	2482	https://pubmed.ncbi.nlm.nih.gov/?term=CSTB	None	None	2863	1207
CSTF2	cleavage stimulation factor subunit 2	Intellectual developmental disorder, X-linked 113?0026972	https://raresource.nih.gov/literature/gene/CSTF2	1478	ENSG00000101811	2484	https://pubmed.ncbi.nlm.nih.gov/?term=CSTF2	None	None	3858	109
CTBP1	C-terminal binding protein 1	4p partial monosomy syndrome?0007896	https://raresource.nih.gov/literature/gene/CTBP1	1487	ENSG00000159692	2494	https://pubmed.ncbi.nlm.nih.gov/?term=CTBP1	None	None	20526	443
CTC1	CST telomere replication complex component 1	Dyskeratosis congenita?0010905;Coats plus syndrome?0017412;Cerebroretinal microangiopathy with calcifications and cysts 1?0018441	https://raresource.nih.gov/literature/gene/CTC1	80169	ENSG00000178971	26169	https://pubmed.ncbi.nlm.nih.gov/?term=CTC1	None	None	8715	204
CTCF	CCCTC-binding factor	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome?0017566	https://raresource.nih.gov/literature/gene/CTCF	10664	ENSG00000102974	13723	https://pubmed.ncbi.nlm.nih.gov/?term=CTCF	None	None	27070	3080
CTDP1	CTD phosphatase subunit 1	Congenital cataracts-facial dysmorphism-neuropathy syndrome?0016645	https://raresource.nih.gov/literature/gene/CTDP1	9150	ENSG00000060069	2498	https://pubmed.ncbi.nlm.nih.gov/?term=CTDP1	None	None	25705	128
CTH	cystathionine gamma-lyase	Cystathioninuria?0002428	https://raresource.nih.gov/literature/gene/CTH	1491	ENSG00000116761	2501	https://pubmed.ncbi.nlm.nih.gov/?term=CTH	None	None	11906	2084
CTLA4	cytotoxic T-lymphocyte associated protein 4	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency?0012316	https://raresource.nih.gov/literature/gene/CTLA4	1493	ENSG00000163599	2505	https://pubmed.ncbi.nlm.nih.gov/?term=CTLA4	None	None	3748	16138
CTNNA1	catenin alpha 1	CTNNA1-related diffuse gastric and lobular breast cancer syndrome?0026099;Patterned macular dystrophy 2?0018238;Butterfly-shaped pigment dystrophy?0016890	https://raresource.nih.gov/literature/gene/CTNNA1	1495	ENSG00000044115	2509	https://pubmed.ncbi.nlm.nih.gov/?term=CTNNA1	None	None	86855	238
CTNNA3	catenin alpha 3	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form?0017346;Arrhythmogenic right ventricular dysplasia 13?0022844;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form?0017347;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form?0017345	https://raresource.nih.gov/literature/gene/CTNNA3	29119	ENSG00000183230	2511	https://pubmed.ncbi.nlm.nih.gov/?term=CTNNA3	None	None	661879	155
CTNNB1	catenin beta 1	Medulloblastoma?0007005;Exudative vitreoretinopathy 7?0016238;Pilomatrixoma?0009452;Adrenal cortex carcinoma?0000558;Familial exudative vitreoretinopathy?0001613;Craniopharyngioma?0010486;Hepatocellular carcinoma?0016773;Severe intellectual disability-progressive spastic diplegia syndrome?0003505;Adenoid ameloblastoma?0027425	https://raresource.nih.gov/literature/gene/CTNNB1	1499	ENSG00000168036	2514	https://pubmed.ncbi.nlm.nih.gov/?term=CTNNB1	None	None	22446	4521
CTNND1	catenin delta 1	Blepharocheilodontic syndrome 2?0016244;Tetralogy of Fallot?0002245;Blepharocheilodontic syndrome?0002071	https://raresource.nih.gov/literature/gene/CTNND1	1500	ENSG00000198561	2515	https://pubmed.ncbi.nlm.nih.gov/?term=CTNND1	None	None	25483	24
CTNND2	catenin delta 2	Autosomal dominant non-syndromic intellectual disability?0012107;Benign adult familial myoclonic epilepsy?0016758	https://raresource.nih.gov/literature/gene/CTNND2	1501	ENSG00000169862	2516	https://pubmed.ncbi.nlm.nih.gov/?term=CTNND2	None	None	347446	149
CTNS	cystinosin, lysosomal cystine transporter	Ocular cystinosis?0009756;Nephropathic cystinosis?0010074;Infantile nephropathic cystinosis?0009755;Juvenile nephropathic cystinosis?0017685	https://raresource.nih.gov/literature/gene/CTNS	1497	ENSG00000040531	2518	https://pubmed.ncbi.nlm.nih.gov/?term=CTNS	None	None	8824	379
CTPS1	CTP synthase 1	Severe combined immunodeficiency due to CTPS1 deficiency?0017696	https://raresource.nih.gov/literature/gene/CTPS1	1503	ENSG00000171793	2519	https://pubmed.ncbi.nlm.nih.gov/?term=CTPS1	None	None	13686	221
CTR9	CTR9 homolog, Paf1/RNA polymerase II complex component	Kidney Wilms tumor?0007892	https://raresource.nih.gov/literature/gene/CTR9	9646	ENSG00000198730	16850	https://pubmed.ncbi.nlm.nih.gov/?term=CTR9	None	None	5821	529
CTRC	chymotrypsin C	Hereditary pancreatitis?0006632	https://raresource.nih.gov/literature/gene/CTRC	11330	ENSG00000162438	2523	https://pubmed.ncbi.nlm.nih.gov/?term=CTRC	None	None	5772	231
CTSA	cathepsin A	Cathepsin a-related arteriopathy-strokes-leukoencephalopathy?0022320;Combined deficiency of sialidase AND beta galactosidase?0003953	https://raresource.nih.gov/literature/gene/CTSA	5476	ENSG00000064601	9251	https://pubmed.ncbi.nlm.nih.gov/?term=CTSA	None	None	2199	596
CTSB	cathepsin B	Keratolytic winter erythema?0008275	https://raresource.nih.gov/literature/gene/CTSB	1508	ENSG00000164733	2527	https://pubmed.ncbi.nlm.nih.gov/?term=CTSB	None	None	20226	9688
CTSC	cathepsin C	Haim-Munk syndrome?0000044;Papillon-Lefèvre syndrome?0003100;CTSC-related disorder?0026566;Periodontitis, aggressive 1?0024610	https://raresource.nih.gov/literature/gene/CTSC	1075	ENSG00000109861	2528	https://pubmed.ncbi.nlm.nih.gov/?term=CTSC	None	None	12900	1237
CTSD	cathepsin D	Neuronal ceroid lipofuscinosis 10?0001218	https://raresource.nih.gov/literature/gene/CTSD	1509	ENSG00000117984	2529	https://pubmed.ncbi.nlm.nih.gov/?term=CTSD	None	None	111	5827
CTSF	cathepsin F	Neuronal ceroid lipofuscinosis 13?0017527	https://raresource.nih.gov/literature/gene/CTSF	8722	ENSG00000174080	2531	https://pubmed.ncbi.nlm.nih.gov/?term=CTSF	None	None	2954	142
CTSK	cathepsin K	Pyknodysostosis?0004611	https://raresource.nih.gov/literature/gene/CTSK	1513	ENSG00000143387	2536	https://pubmed.ncbi.nlm.nih.gov/?term=CTSK	None	None	6197	430
CUBN	cubilin	Imerslund-Grasbeck syndrome?0007006;Imerslund-Grasbeck syndrome type 1?0026066	https://raresource.nih.gov/literature/gene/CUBN	8029	ENSG00000107611	2548	https://pubmed.ncbi.nlm.nih.gov/?term=CUBN	None	None	119979	1655
CUL3	cullin 3	Pseudohypoaldosteronism type 2E?0017373;Neurodevelopmental disorder with or without autism or seizures?0018540	https://raresource.nih.gov/literature/gene/CUL3	8452	ENSG00000036257	2553	https://pubmed.ncbi.nlm.nih.gov/?term=CUL3	None	None	47792	990
CUL4B	cullin 4B	X-linked intellectual disability Cabezas type?0013244	https://raresource.nih.gov/literature/gene/CUL4B	8450	ENSG00000158290	2555	https://pubmed.ncbi.nlm.nih.gov/?term=CUL4B	None	None	9865	296
CUL7	cullin 7	3-M syndrome?0005667;3M syndrome 1?0015239	https://raresource.nih.gov/literature/gene/CUL7	9820	ENSG00000044090	21024	https://pubmed.ncbi.nlm.nih.gov/?term=CUL7	None	None	8216	151
CUX1	cut like homeobox 1	Global developmental delay with or without impaired intellectual development?0016477;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/CUX1	1523	ENSG00000257923	2557	https://pubmed.ncbi.nlm.nih.gov/?term=CUX1	None	None	164813	5650
CUX2	cut like homeobox 2	Developmental and epileptic encephalopathy, 67?0016295;Lennox-Gastaut syndrome?0009912	https://raresource.nih.gov/literature/gene/CUX2	23316	ENSG00000111249	19347	https://pubmed.ncbi.nlm.nih.gov/?term=CUX2	None	None	100033	125
CWC27	CWC27 spliceosome associated cyclophilin	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome?0017017	https://raresource.nih.gov/literature/gene/CWC27	10283	ENSG00000153015	10664	https://pubmed.ncbi.nlm.nih.gov/?term=CWC27	None	None	84144	49
CWF19L1	CWF19 like cell cycle control factor 1	Autosomal recessive spinocerebellar ataxia 17?0017786	https://raresource.nih.gov/literature/gene/CWF19L1	55280	ENSG00000095485	25613	https://pubmed.ncbi.nlm.nih.gov/?term=CWF19L1	None	None	14021	21
CX3CR1	C-X3-C motif chemokine receptor 1	Age related macular degeneration 12?0024924	https://raresource.nih.gov/literature/gene/CX3CR1	1524	ENSG00000168329	2558	https://pubmed.ncbi.nlm.nih.gov/?term=CX3CR1	None	None	7941	3299
CXCR2	C-X-C motif chemokine receptor 2	Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency?0021747	https://raresource.nih.gov/literature/gene/CXCR2	3579	ENSG00000180871	6027	https://pubmed.ncbi.nlm.nih.gov/?term=CXCR2	None	None	5573	3570
CXCR4	C-X-C motif chemokine receptor 4	WHIM syndrome 1?0009297	https://raresource.nih.gov/literature/gene/CXCR4	7852	ENSG00000121966	2561	https://pubmed.ncbi.nlm.nih.gov/?term=CXCR4	None	None	3691	16170
CYB561	cytochrome b561	Orthostatic hypotension 2?0025238	https://raresource.nih.gov/literature/gene/CYB561	1534	ENSG00000008283	2571	https://pubmed.ncbi.nlm.nih.gov/?term=CYB561	None	None	5515	205
CYB5A	cytochrome b5 type A	Methemoglobinemia type 4?0015196	https://raresource.nih.gov/literature/gene/CYB5A	1528	ENSG00000166347	2570	https://pubmed.ncbi.nlm.nih.gov/?term=CYB5A	None	None	11053	2331
CYB5R3	cytochrome b5 reductase 3	Deficiency of cytochrome-b5 reductase?0015197;Hereditary methemoglobinemia?0002659	https://raresource.nih.gov/literature/gene/CYB5R3	1727	ENSG00000100243	2873	https://pubmed.ncbi.nlm.nih.gov/?term=CYB5R3	None	None	11598	330
CYBA	cytochrome b-245 alpha chain	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative?0015175;Chronic granulomatous disease?0006100	https://raresource.nih.gov/literature/gene/CYBA	1535	ENSG00000051523	2577	https://pubmed.ncbi.nlm.nih.gov/?term=CYBA	None	None	3862	1348
CYBB	cytochrome b-245 beta chain	X-linked Mendelian susceptibility to mycobacterial diseases?0017464;X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency?0017465;Granulomatous disease, chronic, X-linked?0015294;Chronic granulomatous disease?0006100	https://raresource.nih.gov/literature/gene/CYBB	1536	ENSG00000165168	2578	https://pubmed.ncbi.nlm.nih.gov/?term=CYBB	None	None	5131	5059
CYBC1	cytochrome b-245 chaperone 1	Granulomatous disease, chronic, autosomal recessive, 5?0016395;Chronic granulomatous disease?0006100	https://raresource.nih.gov/literature/gene/CYBC1	79415	ENSG00000178927	28672	https://pubmed.ncbi.nlm.nih.gov/?term=CYBC1	None	None	3865	36
CYC1	cytochrome c1	Mitochondrial complex III deficiency?0008295;Mitochondrial complex III deficiency nuclear type 6?0015970	https://raresource.nih.gov/literature/gene/CYC1	1537	ENSG00000179091	2579	https://pubmed.ncbi.nlm.nih.gov/?term=CYC1	None	None	2053	1122
CYCS	cytochrome c, somatic	Thrombocytopenia 4?0018289	https://raresource.nih.gov/literature/gene/CYCS	54205	ENSG00000172115	19986	https://pubmed.ncbi.nlm.nih.gov/?term=CYCS	None	None	4240	30539
CYFIP2	cytoplasmic FMR1 interacting protein 2	Developmental and epileptic encephalopathy, 65?0016283;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/CYFIP2	26999	ENSG00000055163	13760	https://pubmed.ncbi.nlm.nih.gov/?term=CYFIP2	None	None	45505	178
CYLD	CYLD lysine 63 deubiquitinase	Familial cylindromatosis?0009707;Familial multiple trichoepitheliomata?0010867;Frontotemporal dementia and/or amyotrophic lateral sclerosis 8?0018395;Brooke-Spiegler syndrome?0010179;Trichoepithelioma, multiple familial, 1?0005262	https://raresource.nih.gov/literature/gene/CYLD	1540	ENSG00000083799	2584	https://pubmed.ncbi.nlm.nih.gov/?term=CYLD	None	None	18362	1640
CYP11A1	cytochrome P450 family 11 subfamily A member 1	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency?0021143;Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency?0017033	https://raresource.nih.gov/literature/gene/CYP11A1	1583	ENSG00000140459	2590	https://pubmed.ncbi.nlm.nih.gov/?term=CYP11A1	None	None	7153	3301
CYP11B1	cytochrome P450 family 11 subfamily B member 1	Glucocorticoid-remediable aldosteronism?0002790;Deficiency of steroid 11-beta-monooxygenase?0005658	https://raresource.nih.gov/literature/gene/CYP11B1	1584	ENSG00000160882	2591	https://pubmed.ncbi.nlm.nih.gov/?term=CYP11B1	None	None	5355	1124
CYP11B2	cytochrome P450 family 11 subfamily B member 2	Corticosterone methyloxidase type 2 deficiency?0024871;Early-onset familial hypoaldosteronism?0022243;Corticosterone 18-monooxygenase deficiency?0005660	https://raresource.nih.gov/literature/gene/CYP11B2	1585	ENSG00000179142	2592	https://pubmed.ncbi.nlm.nih.gov/?term=CYP11B2	None	None	5200	2074
CYP17A1	cytochrome P450 family 17 subfamily A member 1	Deficiency of steroid 17-alpha-monooxygenase?0001469	https://raresource.nih.gov/literature/gene/CYP17A1	1586	ENSG00000148795	2593	https://pubmed.ncbi.nlm.nih.gov/?term=CYP17A1	None	None	3622	3562
CYP19A1	cytochrome P450 family 19 subfamily A member 1	Aromatase deficiency?0000365;Aromatase excess syndrome?0012494	https://raresource.nih.gov/literature/gene/CYP19A1	1588	ENSG00000137869	2594	https://pubmed.ncbi.nlm.nih.gov/?term=CYP19A1	None	None	29886	17572
CYP1B1	cytochrome P450 family 1 subfamily B member 1	Glaucoma 3A?0018224;CYP1B1-related glaucoma with or without anterior segment dysgenesis?0026571;Anterior segment dysgenesis 6?0025051;Glaucoma 3, primary infantile, B?0002490	https://raresource.nih.gov/literature/gene/CYP1B1	1545	ENSG00000138061	2597	https://pubmed.ncbi.nlm.nih.gov/?term=CYP1B1	None	None	21112	4453
CYP21A2	cytochrome P450 family 21 subfamily A member 2	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form?0021398;Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency?0012665;Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form?0021399	https://raresource.nih.gov/literature/gene/CYP21A2	1589	ENSG00000231852	2600	https://pubmed.ncbi.nlm.nih.gov/?term=CYP21A2	None	None	2618	2063
CYP24A1	cytochrome P450 family 24 subfamily A member 1	Autosomal recessive infantile hypercalcemia?0017374;Hypercalcemia, infantile, 1?0018434	https://raresource.nih.gov/literature/gene/CYP24A1	1591	ENSG00000019186	2602	https://pubmed.ncbi.nlm.nih.gov/?term=CYP24A1	None	None	7161	1786
CYP26B1	cytochrome P450 family 26 subfamily B member 1	Lethal occipital encephalocele-skeletal dysplasia syndrome?0017348	https://raresource.nih.gov/literature/gene/CYP26B1	56603	ENSG00000003137	20581	https://pubmed.ncbi.nlm.nih.gov/?term=CYP26B1	None	None	10212	348
CYP26C1	cytochrome P450 family 26 subfamily C member 1	Focal facial dermal dysplasia type IV?0017650	https://raresource.nih.gov/literature/gene/CYP26C1	340665	ENSG00000187553	20577	https://pubmed.ncbi.nlm.nih.gov/?term=CYP26C1	None	None	4092	63
CYP27A1	cytochrome P450 family 27 subfamily A member 1	Cholestanol storage disease?0005622	https://raresource.nih.gov/literature/gene/CYP27A1	1593	ENSG00000135929	2605	https://pubmed.ncbi.nlm.nih.gov/?term=CYP27A1	None	None	13629	4250
CYP27B1	cytochrome P450 family 27 subfamily B member 1	CYP7B1-related disorder of oxysterol accumulation?0027439;Vitamin D-dependent rickets, type 1A?0018636;Vitamin D-dependent rickets, type 1?0017319	https://raresource.nih.gov/literature/gene/CYP27B1	1594	ENSG00000111012	2606	https://pubmed.ncbi.nlm.nih.gov/?term=CYP27B1	None	None	2252	9942
CYP2R1	cytochrome P450 family 2 subfamily R member 1	Vitamin D-dependent rickets, type 1?0017319;Vitamin D hydroxylation-deficient rickets, type 1B?0018415	https://raresource.nih.gov/literature/gene/CYP2R1	120227	ENSG00000186104	20580	https://pubmed.ncbi.nlm.nih.gov/?term=CYP2R1	None	None	6732	587
CYP2U1	cytochrome P450 family 2 subfamily U member 1	Hereditary spastic paraplegia 56?0017480	https://raresource.nih.gov/literature/gene/CYP2U1	113612	ENSG00000155016	20582	https://pubmed.ncbi.nlm.nih.gov/?term=CYP2U1	None	None	9987	99
CYP3A4	cytochrome P450 family 3 subfamily A member 4	Vitamin D-dependent rickets, type 3?0018171	https://raresource.nih.gov/literature/gene/CYP3A4	1576	ENSG00000160868	2637	https://pubmed.ncbi.nlm.nih.gov/?term=CYP3A4	None	None	9494	15977
CYP4F22	cytochrome P450 family 4 subfamily F member 22	Lamellar ichthyosis?0010803;Autosomal recessive congenital ichthyosis 5?0009734	https://raresource.nih.gov/literature/gene/CYP4F22	126410	ENSG00000171954	26820	https://pubmed.ncbi.nlm.nih.gov/?term=CYP4F22	None	None	14071	63
CYP4V2	cytochrome P450 family 4 subfamily V member 2	Bietti crystalline corneoretinal dystrophy?0010050	https://raresource.nih.gov/literature/gene/CYP4V2	285440	ENSG00000145476	23198	https://pubmed.ncbi.nlm.nih.gov/?term=CYP4V2	None	None	10682	480
CYP51A1	cytochrome P450 family 51 subfamily A member 1	Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome?0022144	https://raresource.nih.gov/literature/gene/CYP51A1	1595	ENSG00000001630	2649	https://pubmed.ncbi.nlm.nih.gov/?term=CYP51A1	None	None	8073	1265
CYP7A1	cytochrome P450 family 7 subfamily A member 1	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency?0020441	https://raresource.nih.gov/literature/gene/CYP7A1	1581	ENSG00000167910	2651	https://pubmed.ncbi.nlm.nih.gov/?term=CYP7A1	None	None	5170	2736
CYP7B1	cytochrome P450 family 7 subfamily B member 1	Congenital bile acid synthesis defect 3?0016713;Hereditary spastic paraplegia 5A?0004926	https://raresource.nih.gov/literature/gene/CYP7B1	9420	ENSG00000172817	2652	https://pubmed.ncbi.nlm.nih.gov/?term=CYP7B1	None	None	76378	373
CYSLTR2	cysteinyl leukotriene receptor 2	Uveal melanoma?0008621	https://raresource.nih.gov/literature/gene/CYSLTR2	57105	ENSG00000152207	18274	https://pubmed.ncbi.nlm.nih.gov/?term=CYSLTR2	None	None	19924	259
D2HGDH	D-2-hydroxyglutarate dehydrogenase	D-2-hydroxyglutaric aciduria 1?0025429;D-2-hydroxyglutaric aciduria?0005661	https://raresource.nih.gov/literature/gene/D2HGDH	728294	ENSG00000180902	28358	https://pubmed.ncbi.nlm.nih.gov/?term=D2HGDH	None	None	16838	73
DAAM2	dishevelled associated activator of morphogenesis 2	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Idiopathic multidrug-resistant nephrotic syndrome?0022287;Nephrotic syndrome, type 24?0018003	https://raresource.nih.gov/literature/gene/DAAM2	23500	ENSG00000146122	18143	https://pubmed.ncbi.nlm.nih.gov/?term=DAAM2	None	None	42741	89
DAB1	DAB adaptor protein 1	Spinocerebellar ataxia type 37?0012368	https://raresource.nih.gov/literature/gene/DAB1	1600	ENSG00000173406	2661	https://pubmed.ncbi.nlm.nih.gov/?term=DAB1	None	None	508227	478
DACT1	dishevelled binding antagonist of beta catenin 1	Townes syndrome?0007784;Craniorachischisis?0010504;Occipital encephalocele?0020969;Townes-Brocks syndrome 2?0025952	https://raresource.nih.gov/literature/gene/DACT1	51339	ENSG00000165617	17748	https://pubmed.ncbi.nlm.nih.gov/?term=DACT1	None	None	6590	176
DAG1	dystroglycan 1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9?0016134;Autosomal recessive limb-girdle muscular dystrophy type 2P?0012541;Walker-Warburg congenital muscular dystrophy?0002599;Muscle-eye-brain disease with bilateral multicystic leucodystrophy?0017608	https://raresource.nih.gov/literature/gene/DAG1	1605	ENSG00000173402	2666	https://pubmed.ncbi.nlm.nih.gov/?term=DAG1	None	None	31442	477
DAGLA	diacylglycerol lipase alpha	Benign paroxysmal tonic upgaze of childhood with ataxia?0004176	https://raresource.nih.gov/literature/gene/DAGLA	747	ENSG00000134780	1165	https://pubmed.ncbi.nlm.nih.gov/?term=DAGLA	None	None	10863	127
DALRD3	DALR anticodon binding domain containing 3	Developmental and epileptic encephalopathy, 86?0016391;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/DALRD3	55152	ENSG00000178149	25536	https://pubmed.ncbi.nlm.nih.gov/?term=DALRD3	None	None	3346	10
DAND5	DAN domain BMP antagonist family member 5	Heterotaxy, visceral, 13, autosomal?0027429	https://raresource.nih.gov/literature/gene/DAND5	199699	ENSG00000179284	26780	https://pubmed.ncbi.nlm.nih.gov/?term=DAND5	None	None	4923	9962
DAO	D-amino acid oxidase	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/DAO	1610	ENSG00000110887	2671	https://pubmed.ncbi.nlm.nih.gov/?term=DAO	None	None	16112	2697
DAP3	death associated protein 3	Perrault syndrome 7?0027436	https://raresource.nih.gov/literature/gene/DAP3	7818	ENSG00000132676	2673	https://pubmed.ncbi.nlm.nih.gov/?term=DAP3	None	None	7915	101
DARS1	aspartyl-tRNA synthetase 1	Hypomyelination with brain stem and spinal cord involvement and leg spasticity?0017554	https://raresource.nih.gov/literature/gene/DARS1	1615	ENSG00000115866	2678	https://pubmed.ncbi.nlm.nih.gov/?term=DARS1	None	None	31227	150
DARS2	aspartyl-tRNA synthetase 2, mitochondrial	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome?0012652	https://raresource.nih.gov/literature/gene/DARS2	55157	ENSG00000117593	25538	https://pubmed.ncbi.nlm.nih.gov/?term=DARS2	None	None	16009	218
DAW1	dynein assembly factor with WD repeats 1	Ciliary dyskinesia, primary, 52?0026893	https://raresource.nih.gov/literature/gene/DAW1	164781	ENSG00000123977	26383	https://pubmed.ncbi.nlm.nih.gov/?term=DAW1	None	None	20341	15
DAZ1	deleted in azoospermia 1	Y chromosome infertility due to DAZ1 deletion?0000185	https://raresource.nih.gov/literature/gene/DAZ1	1617	ENSG00000188120	2682	https://pubmed.ncbi.nlm.nih.gov/?term=DAZ1	None	None	1148	314
DBH	dopamine beta-hydroxylase	Orthostatic hypotension 1?0001903	https://raresource.nih.gov/literature/gene/DBH	1621	ENSG00000123454	2689	https://pubmed.ncbi.nlm.nih.gov/?term=DBH	None	None	11716	4331
DBT	dihydrolipoamide branched chain transacylase E2	Thiamine-responsive maple syrup urine disease?0017266;Intermediate maple syrup urine disease?0017264;Classical maple syrup urine disease?0017263;Maple syrup urine disease type 2?0008596;Intermittent maple syrup urine disease?0017265	https://raresource.nih.gov/literature/gene/DBT	1629	ENSG00000137992	2698	https://pubmed.ncbi.nlm.nih.gov/?term=DBT	None	None	23583	7159
DCAF17	DDB1 and CUL4 associated factor 17	Woodhouse-Sakati syndrome?0005592	https://raresource.nih.gov/literature/gene/DCAF17	80067	ENSG00000115827	25784	https://pubmed.ncbi.nlm.nih.gov/?term=DCAF17	None	None	19752	57
DCAF8	DDB1 and CUL4 associated factor 8	Giant axonal neuropathy 2?0012447	https://raresource.nih.gov/literature/gene/DCAF8	50717	ENSG00000132716	24891	https://pubmed.ncbi.nlm.nih.gov/?term=DCAF8	None	None	17420	19
DCC	DCC netrin 1 receptor	Horizontal gaze palsy with progressive scoliosis?0012682;Hypogonadism with anosmia?0010771;Bimanual synkinesia?0012551;Mirror movements 1?0015086;Gaze palsy, familial horizontal, with progressive scoliosis, 2?0016234;Carcinoma of esophagus?0006383	https://raresource.nih.gov/literature/gene/DCC	1630	ENSG00000187323	2701	https://pubmed.ncbi.nlm.nih.gov/?term=DCC	None	None	455407	1459
DCDC2	doublecortin domain containing 2	Hearing loss, autosomal recessive?0018117;Senior-Boichis syndrome?0016730;Nephronophthisis 19?0018081;Isolated neonatal sclerosing cholangitis?0021983;Autosomal recessive nonsyndromic hearing loss 66?0022621	https://raresource.nih.gov/literature/gene/DCDC2	51473	ENSG00000146038	18141	https://pubmed.ncbi.nlm.nih.gov/?term=DCDC2	None	None	76840	193
DCHS1	dachsous cadherin-related 1	Familial mitral valve prolapse?0003687;Van Maldergem syndrome?0005456;Tetralogy of Fallot?0002245;Van Maldergem syndrome 1?0024770;Mitral valve prolapse, myxomatous 2?0015421	https://raresource.nih.gov/literature/gene/DCHS1	8642	ENSG00000166341	13681	https://pubmed.ncbi.nlm.nih.gov/?term=DCHS1	None	None	14307	136
DCLRE1B	DNA cross-link repair 1B	Dyskeratosis congenita, autosomal recessive 8?0026695	https://raresource.nih.gov/literature/gene/DCLRE1B	64858	ENSG00000118655	17641	https://pubmed.ncbi.nlm.nih.gov/?term=DCLRE1B	None	None	3184	83
DCLRE1C	DNA cross-link repair 1C	Severe combined immunodeficiency due to DCLRE1C deficiency?0009987;Histiocytic medullary reticulosis?0008198	https://raresource.nih.gov/literature/gene/DCLRE1C	64421	ENSG00000152457	17642	https://pubmed.ncbi.nlm.nih.gov/?term=DCLRE1C	None	None	23892	105
DCN	decorin	Congenital stromal corneal dystrophy?0016943	https://raresource.nih.gov/literature/gene/DCN	1634	ENSG00000011465	2705	https://pubmed.ncbi.nlm.nih.gov/?term=DCN	None	None	12353	3681
DCPS	decapping enzyme, scavenger	Autosomal recessive non-syndromic intellectual disability?0018643;Al-Raqad syndrome?0025009	https://raresource.nih.gov/literature/gene/DCPS	28960	ENSG00000110063	29812	https://pubmed.ncbi.nlm.nih.gov/?term=DCPS	None	None	11829	1222
DCT	dopachrome tautomerase	Oculocutaneous albinism type 8?0018017	https://raresource.nih.gov/literature/gene/DCT	1638	ENSG00000080166	2709	https://pubmed.ncbi.nlm.nih.gov/?term=DCT	None	None	15234	2089
DCTN1	dynactin subunit 1	Distal hereditary motor neuropathy type 7?0016960;DCTN1-related neurodegeneration?0027375;Perry syndrome?0010453;Amyotrophic lateral sclerosis type 1?0024523;Neuronopathy, distal hereditary motor, type 7B?0018270	https://raresource.nih.gov/literature/gene/DCTN1	1639	ENSG00000204843	2711	https://pubmed.ncbi.nlm.nih.gov/?term=DCTN1	None	None	14069	32
DCX	doublecortin	Subcortical band heterotopia?0001904;Lissencephaly type 1 due to doublecortin gene mutation?0006914	https://raresource.nih.gov/literature/gene/DCX	1641	ENSG00000077279	2714	https://pubmed.ncbi.nlm.nih.gov/?term=DCX	None	None	19611	3279
DCXR	dicarbonyl and L-xylulose reductase	Essential pentosuria?0000418	https://raresource.nih.gov/literature/gene/DCXR	51181	ENSG00000169738	18985	https://pubmed.ncbi.nlm.nih.gov/?term=DCXR	None	None	1905	421
DDB2	damage specific DNA binding protein 2	Xeroderma pigmentosum?0007910;Xeroderma pigmentosum, group E?0005627	https://raresource.nih.gov/literature/gene/DDB2	1643	ENSG00000134574	2718	https://pubmed.ncbi.nlm.nih.gov/?term=DDB2	None	None	12437	496
DDC	dopa decarboxylase	Deficiency of aromatic-L-amino-acid decarboxylase?0000770	https://raresource.nih.gov/literature/gene/DDC	1644	ENSG00000132437	2719	https://pubmed.ncbi.nlm.nih.gov/?term=DDC	None	None	11285	2766
DDHD1	DDHD domain containing 1	Hereditary spastic paraplegia 28?0016941	https://raresource.nih.gov/literature/gene/DDHD1	80821	ENSG00000100523	19714	https://pubmed.ncbi.nlm.nih.gov/?term=DDHD1	None	None	30233	51
DDHD2	DDHD domain containing 2	Hereditary spastic paraplegia 54?0017475	https://raresource.nih.gov/literature/gene/DDHD2	23259	ENSG00000085788	29106	https://pubmed.ncbi.nlm.nih.gov/?term=DDHD2	None	None	12816	71
DDOST	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	Congenital disorder of glycosylation type Ir?0012398	https://raresource.nih.gov/literature/gene/DDOST	1650	ENSG00000244038	2728	https://pubmed.ncbi.nlm.nih.gov/?term=DDOST	None	None	4976	570
DDR2	discoidin domain receptor tyrosine kinase 2	Warburg-cinotti syndrome?0015007;Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome?0010616	https://raresource.nih.gov/literature/gene/DDR2	4921	ENSG00000162733	2731	https://pubmed.ncbi.nlm.nih.gov/?term=DDR2	None	None	65918	963
DDRGK1	DDRGK domain containing 1	Spondyloepimetaphyseal dysplasia, Shohat type?0004980	https://raresource.nih.gov/literature/gene/DDRGK1	65992	ENSG00000198171	16110	https://pubmed.ncbi.nlm.nih.gov/?term=DDRGK1	None	None	8014	76
DDX11	DEAD/H-box helicase 11	Warsaw breakage syndrome?0013708	https://raresource.nih.gov/literature/gene/DDX11	1663	ENSG00000013573	2736	https://pubmed.ncbi.nlm.nih.gov/?term=DDX11	None	None	10475	493
DDX3X	DEAD-box helicase 3 X-linked	X-linked intellectual disability-hypotonia-movement disorder syndrome?0012715;Intellectual disability, X-linked 102?0024730;Toriello-Carey syndrome?0005225	https://raresource.nih.gov/literature/gene/DDX3X	1654	ENSG00000215301	2745	https://pubmed.ncbi.nlm.nih.gov/?term=DDX3X	None	None	9389	864
DDX41	DEAD-box helicase 41	DDX41-related hematologic malignancy predisposition syndrome?0017899	https://raresource.nih.gov/literature/gene/DDX41	51428	ENSG00000183258	18674	https://pubmed.ncbi.nlm.nih.gov/?term=DDX41	None	None	3498	423
DDX59	DEAD-box helicase 59	Orofaciodigital syndrome V?0004120	https://raresource.nih.gov/literature/gene/DDX59	83479	ENSG00000118197	25360	https://pubmed.ncbi.nlm.nih.gov/?term=DDX59	None	None	18797	15
DDX6	DEAD-box helicase 6	Intellectual developmental disorder with impaired language and dysmorphic facies?0018520	https://raresource.nih.gov/literature/gene/DDX6	1656	ENSG00000110367	2747	https://pubmed.ncbi.nlm.nih.gov/?term=DDX6	None	None	18509	825
DEAF1	DEAF1 transcription factor	Intellectual disability, autosomal dominant 24?0016467;DEAF1-associated neurodevelopmental disorder?0027072;Intellectual disability-epilepsy-extrapyramidal syndrome?0013474;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/DEAF1	10522	ENSG00000177030	14677	https://pubmed.ncbi.nlm.nih.gov/?term=DEAF1	None	None	25555	283
DEGS1	delta 4-desaturase, sphingolipid 1	Leukodystrophy, hypomyelinating, 18?0025731	https://raresource.nih.gov/literature/gene/DEGS1	8560	ENSG00000143753	13709	https://pubmed.ncbi.nlm.nih.gov/?term=DEGS1	None	None	5739	442
DENND5A	DENN domain containing 5A	Developmental and epileptic encephalopathy, 49?0025047	https://raresource.nih.gov/literature/gene/DENND5A	23258	ENSG00000184014	19344	https://pubmed.ncbi.nlm.nih.gov/?term=DENND5A	None	None	51560	24
DEPDC5	DEP domain containing 5, GATOR1 subcomplex subunit	Familial focal epilepsy with variable foci?0013295;Developmental and epileptic encephalopathy 111?0026871;Autosomal dominant nocturnal frontal lobe epilepsy?0011918;Epilepsy, familial focal, with variable foci 1?0018202;Autosomal dominant epilepsy with auditory features?0002257	https://raresource.nih.gov/literature/gene/DEPDC5	9681	ENSG00000100150	18423	https://pubmed.ncbi.nlm.nih.gov/?term=DEPDC5	None	None	42593	10
DES	desmin	Familial isolated dilated cardiomyopathy?0027293;Neurogenic scapuloperoneal syndrome, Kaeser type?0010312;Qualitative or quantitative defects of desmin?0020426;Dilated cardiomyopathy 1I?0015372;Desmin-related myofibrillar myopathy?0016870	https://raresource.nih.gov/literature/gene/DES	1674	ENSG00000175084	2770	https://pubmed.ncbi.nlm.nih.gov/?term=DES	None	None	5254	14511
DGAT1	diacylglycerol O-acyltransferase 1	Congenital diarrhea 7 with exudative enteropathy?0017500	https://raresource.nih.gov/literature/gene/DGAT1	8694	ENSG00000185000	2843	https://pubmed.ncbi.nlm.nih.gov/?term=DGAT1	None	None	6108	382
DGAT2	diacylglycerol O-acyltransferase 2	Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation?0021999	https://raresource.nih.gov/literature/gene/DGAT2	84649	ENSG00000062282	16940	https://pubmed.ncbi.nlm.nih.gov/?term=DGAT2	None	None	10609	891
DGKE	diacylglycerol kinase epsilon	Atypical hemolytic-uremic syndrome with DGKE deficiency?0017543;Immunoglobulin-mediated membranoproliferative glomerulonephritis?0017506	https://raresource.nih.gov/literature/gene/DGKE	8526	ENSG00000153933	2852	https://pubmed.ncbi.nlm.nih.gov/?term=DGKE	None	None	9486	864
DGUOK	deoxyguanosine kinase	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4?0017501;Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)?0013644	https://raresource.nih.gov/literature/gene/DGUOK	1716	ENSG00000114956	2858	https://pubmed.ncbi.nlm.nih.gov/?term=DGUOK	None	None	13580	967
DHCR24	24-dehydrocholesterol reductase	Desmosterolosis?0010283	https://raresource.nih.gov/literature/gene/DHCR24	1718	ENSG00000116133	2859	https://pubmed.ncbi.nlm.nih.gov/?term=DHCR24	None	None	15088	453
DHCR7	7-dehydrocholesterol reductase	Smith-Lemli-Opitz syndrome?0005683	https://raresource.nih.gov/literature/gene/DHCR7	1717	ENSG00000172893	2860	https://pubmed.ncbi.nlm.nih.gov/?term=DHCR7	None	None	5353	711
DHDDS	dehydrodolichyl diphosphate synthase subunit	DHDDS-CDG?0027256;Retinitis pigmentosa 59?0015724;Undetermined early-onset epileptic encephalopathy?0015028;Developmental delay and seizures with or without movement abnormalities?0016261	https://raresource.nih.gov/literature/gene/DHDDS	79947	ENSG00000117682	20603	https://pubmed.ncbi.nlm.nih.gov/?term=DHDDS	None	None	15144	1372
DHFR	dihydrofolate reductase	Constitutional megaloblastic anemia with severe neurologic disease?0011000	https://raresource.nih.gov/literature/gene/DHFR	1719	ENSG00000228716	2861	https://pubmed.ncbi.nlm.nih.gov/?term=DHFR	None	None	11691	6942
DHH	desert hedgehog signaling molecule	46,XY sex reversal 7?0015174;Pure gonadal dysgenesis 46,XY?0005068;46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome?0017034	https://raresource.nih.gov/literature/gene/DHH	50846	ENSG00000139549	2865	https://pubmed.ncbi.nlm.nih.gov/?term=DHH	None	None	3301	332
DHODH	dihydroorotate dehydrogenase (quinone)	Miller syndrome?0008410	https://raresource.nih.gov/literature/gene/DHODH	1723	ENSG00000102967	2867	https://pubmed.ncbi.nlm.nih.gov/?term=DHODH	None	None	7922	695
DHRSX	dehydrogenase/reductase X-linked	Congenital disorder of glycosylation, type 1DD?0027333	https://raresource.nih.gov/literature/gene/DHRSX	207063	ENSG00000169084; ENSG00000292338	18399	https://pubmed.ncbi.nlm.nih.gov/?term=DHRSX	None	None	94518	14
DHTKD1	dehydrogenase E1 and transketolase domain containing 1	Charcot-Marie-Tooth disease axonal type 2Q?0012446;2-aminoadipic 2-oxoadipic aciduria?0016708	https://raresource.nih.gov/literature/gene/DHTKD1	55526	ENSG00000181192	23537	https://pubmed.ncbi.nlm.nih.gov/?term=DHTKD1	None	None	27328	2548
DHX30	DExH-box helicase 30	Neurodevelopmental disorder with severe motor impairment and absent language?0013608	https://raresource.nih.gov/literature/gene/DHX30	22907	ENSG00000132153	16716	https://pubmed.ncbi.nlm.nih.gov/?term=DHX30	None	None	18890	43
DHX37	DEAH-box helicase 37	46,XY sex reversal 11?0016552;Pure gonadal dysgenesis 46,XY?0005068;46,XY partial gonadal dysgenesis?0017211	https://raresource.nih.gov/literature/gene/DHX37	57647	ENSG00000150990	17210	https://pubmed.ncbi.nlm.nih.gov/?term=DHX37	None	None	18534	76
DHX38	DEAH-box helicase 38	Retinitis pigmentosa 84?0016311	https://raresource.nih.gov/literature/gene/DHX38	9785	ENSG00000140829	17211	https://pubmed.ncbi.nlm.nih.gov/?term=DHX38	None	None	7580	101
DIABLO	diablo IAP-binding mitochondrial protein	Autosomal dominant nonsyndromic hearing loss 64?0018134;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/DIABLO	56616	ENSG00000184047	21528	https://pubmed.ncbi.nlm.nih.gov/?term=DIABLO	None	None	5742	1979
DIAPH1	diaphanous related formin 1	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome?0017858;DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome?0017904;Moyamoya disease?0007064;Autosomal dominant nonsyndromic hearing loss 1?0024557	https://raresource.nih.gov/literature/gene/DIAPH1	1729	ENSG00000131504	2876	https://pubmed.ncbi.nlm.nih.gov/?term=DIAPH1	None	None	41122	536
DIAPH2	diaphanous related formin 2	Premature ovarian failure 2A?0024719	https://raresource.nih.gov/literature/gene/DIAPH2	1730	ENSG00000147202	2877	https://pubmed.ncbi.nlm.nih.gov/?term=DIAPH2	None	None	164313	276
DIAPH3	diaphanous related formin 3	Autosomal dominant auditory neuropathy 1?0018127;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/DIAPH3	81624	ENSG00000139734	15480	https://pubmed.ncbi.nlm.nih.gov/?term=DIAPH3	None	None	115290	571
DICER1	dicer 1, ribonuclease III	Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome?0017676;Pleuropulmonary blastoma?0008757;Rhabdomyosarcoma, embryonal, 2?0026652;DICER1-related tumor predisposition?0010734;Euthyroid goiter?0017278	https://raresource.nih.gov/literature/gene/DICER1	23405	ENSG00000100697	17098	https://pubmed.ncbi.nlm.nih.gov/?term=DICER1	None	None	27249	4260
DIS3L2	DIS3 like 3'-5' exoribonuclease 2	Perlman syndrome?0003936	https://raresource.nih.gov/literature/gene/DIS3L2	129563	ENSG00000144535	28648	https://pubmed.ncbi.nlm.nih.gov/?term=DIS3L2	None	None	162076	114
DISP1	dispatched RND transporter family member 1	Microform holoprosencephaly?0017290;Holoprosencephaly 10?0027562;Lobar holoprosencephaly?0016830;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/DISP1	84976	ENSG00000154309	19711	https://pubmed.ncbi.nlm.nih.gov/?term=DISP1	None	None	47309	43
DKC1	dyskerin pseudouridine synthase 1	Dyskeratosis congenita?0010905;Hoyeraal-Hreidarsson syndrome?0000346;Dyskeratosis congenita, X-linked?0002007;DKC1-related disorder?0026065	https://raresource.nih.gov/literature/gene/DKC1	1736	ENSG00000130826	2890	https://pubmed.ncbi.nlm.nih.gov/?term=DKC1	None	None	3926	421
DKK1	dickkopf WNT signaling pathway inhibitor 1	Chiari type I malformation?0009233	https://raresource.nih.gov/literature/gene/DKK1	22943	ENSG00000107984	2891	https://pubmed.ncbi.nlm.nih.gov/?term=DKK1	None	None	2610	4881
DLAT	dihydrolipoamide S-acetyltransferase	Pyruvate dehydrogenase E2 deficiency?0016712	https://raresource.nih.gov/literature/gene/DLAT	1737	ENSG00000150768	2896	https://pubmed.ncbi.nlm.nih.gov/?term=DLAT	None	None	11348	7600
DLD	dihydrolipoamide dehydrogenase	Pyruvate dehydrogenase E3 deficiency?0003263	https://raresource.nih.gov/literature/gene/DLD	1738	ENSG00000091140	2898	https://pubmed.ncbi.nlm.nih.gov/?term=DLD	None	None	11974	5422
DLG3	discs large MAGUK scaffold protein 3	Non-syndromic X-linked intellectual disability?0018640;Intellectual disability, X-linked 90?0022690	https://raresource.nih.gov/literature/gene/DLG3	1741	ENSG00000082458	2902	https://pubmed.ncbi.nlm.nih.gov/?term=DLG3	None	None	11072	422
DLG4	discs large MAGUK scaffold protein 4	Intellectual developmental disorder 62?0025775	https://raresource.nih.gov/literature/gene/DLG4	1742	ENSG00000132535	2903	https://pubmed.ncbi.nlm.nih.gov/?term=DLG4	None	None	12002	2210
DLK1	delta like non-canonical Notch ligand 1	Genetic central precocious puberty in male?0027086;Genetic central precocious puberty in female?0027028	https://raresource.nih.gov/literature/gene/DLK1	8788	ENSG00000185559	2907	https://pubmed.ncbi.nlm.nih.gov/?term=DLK1	None	None	6293	2102
DLL1	delta like canonical Notch ligand 1	Microform holoprosencephaly?0017290;Lobar holoprosencephaly?0016830;Autosomal dominant non-syndromic intellectual disability?0012107;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/DLL1	28514	ENSG00000198719	2908	https://pubmed.ncbi.nlm.nih.gov/?term=DLL1	None	None	4895	4572
DLL3	delta like canonical Notch ligand 3	Spondylocostal dysostosis 1, autosomal recessive?0010726;Autosomal recessive spondylocostal dysostosis?0006798	https://raresource.nih.gov/literature/gene/DLL3	10683	ENSG00000090932	2909	https://pubmed.ncbi.nlm.nih.gov/?term=DLL3	None	None	4512	496
DLL4	delta like canonical Notch ligand 4	Adams-Oliver syndrome?0005739;Adams-Oliver syndrome 6?0016142	https://raresource.nih.gov/literature/gene/DLL4	54567	ENSG00000128917	2910	https://pubmed.ncbi.nlm.nih.gov/?term=DLL4	None	None	4189	1325
DLX3	distal-less homeobox 3	Tricho-dento-osseous syndrome?0007799;Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism?0016932	https://raresource.nih.gov/literature/gene/DLX3	1747	ENSG00000064195	2916	https://pubmed.ncbi.nlm.nih.gov/?term=DLX3	None	None	2894	792
DLX4	distal-less homeobox 4	Orofacial cleft 15?0018307;Cleft lip/palate?0017092	https://raresource.nih.gov/literature/gene/DLX4	1748	ENSG00000108813	2917	https://pubmed.ncbi.nlm.nih.gov/?term=DLX4	None	None	2825	259
DLX5	distal-less homeobox 5	Ectrodactyly?0006319;Split hand-foot malformation 1?0007685;Split hand-foot malformation 1 with sensorineural hearing loss?0016686	https://raresource.nih.gov/literature/gene/DLX5	1749	ENSG00000105880	2918	https://pubmed.ncbi.nlm.nih.gov/?term=DLX5	None	None	3778	831
DLX6	distal-less homeobox 6	Ectrodactyly?0006319	https://raresource.nih.gov/literature/gene/DLX6	1750	ENSG00000006377	2919	https://pubmed.ncbi.nlm.nih.gov/?term=DLX6	None	None	3010	289
DMD	dystrophin	Becker muscular dystrophy?0005900;Non-syndromic X-linked intellectual disability?0018640;DMD-related muscular dystrophy?0027378;Familial isolated dilated cardiomyopathy?0027293;Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers?0020350;Duchenne muscular dystrophy?0006291;Dilated cardiomyopathy 3B?0015287	https://raresource.nih.gov/literature/gene/DMD	1756	ENSG00000198947	2928	https://pubmed.ncbi.nlm.nih.gov/?term=DMD	None	None	466598	7316
DMGDH	dimethylglycine dehydrogenase	Dimethylglycine dehydrogenase deficiency?0017185	https://raresource.nih.gov/literature/gene/DMGDH	29958	ENSG00000132837	24475	https://pubmed.ncbi.nlm.nih.gov/?term=DMGDH	None	None	79244	81
DMP1	dentin matrix acidic phosphoprotein 1	Autosomal recessive hypophosphatemic vitamin D refractory rickets?0017320;Hypophosphatemic rickets, autosomal recessive, 1?0018416	https://raresource.nih.gov/literature/gene/DMP1	1758	ENSG00000152592	2932	https://pubmed.ncbi.nlm.nih.gov/?term=DMP1	None	None	6854	1687
DMPK	DM1 protein kinase	Late-onset Steinert myotonic dystrophy?0022365;Congenital-onset Steinert myotonic dystrophy?0022361;Adult-onset Steinert myotonic dystrophy?0022364;Juvenile-onset Steinert myotonic dystrophy?0022363;Steinert myotonic dystrophy syndrome?0008310;Childhood-onset Steinert myotonic dystrophy?0022362	https://raresource.nih.gov/literature/gene/DMPK	1760	ENSG00000104936	2933	https://pubmed.ncbi.nlm.nih.gov/?term=DMPK	None	None	5350	1160
DMXL2	Dmx like 2	Hearing loss, autosomal dominant 71?0018147;Polyendocrine-polyneuropathy syndrome?0017787;Autosomal dominant nonsyndromic hearing loss?0016791;Developmental and epileptic encephalopathy, 81?0025760	https://raresource.nih.gov/literature/gene/DMXL2	23312	ENSG00000104093	2938	https://pubmed.ncbi.nlm.nih.gov/?term=DMXL2	None	None	44079	163
DNA2	DNA replication helicase/nuclease 2	Seckel syndrome 8?0016013;Mitochondrial DNA deletion syndrome with progressive myopathy?0017518;Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/DNA2	1763	ENSG00000138346	2939	https://pubmed.ncbi.nlm.nih.gov/?term=DNA2	None	None	25662	449
DNAAF1	dynein axonemal assembly factor 1	Primary ciliary dyskinesia 13?0015628;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAAF1	123872	ENSG00000154099	30539	https://pubmed.ncbi.nlm.nih.gov/?term=DNAAF1	None	None	12090	41
DNAAF11	dynein axonemal assembly factor 11	Primary ciliary dyskinesia 19?0015883;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAAF11	23639	ENSG00000129295	16725	https://pubmed.ncbi.nlm.nih.gov/?term=DNAAF11	None	None	None	45
DNAAF19	dynein axonemal assembly factor 19	Primary ciliary dyskinesia 17?0015835;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAAF19	388389	ENSG00000167131	32700	https://pubmed.ncbi.nlm.nih.gov/?term=DNAAF19	None	None	None	38
DNAAF2	dynein axonemal assembly factor 2	Primary ciliary dyskinesia 10?0015560;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAAF2	55172	ENSG00000165506	20188	https://pubmed.ncbi.nlm.nih.gov/?term=DNAAF2	None	None	4748	32
DNAAF3	dynein axonemal assembly factor 3	Primary ciliary dyskinesia 2?0015400;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAAF3	352909	ENSG00000167646	30492	https://pubmed.ncbi.nlm.nih.gov/?term=DNAAF3	None	None	4088	619
DNAAF4	dynein axonemal assembly factor 4	Primary ciliary dyskinesia 25?0015972;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAAF4	161582	ENSG00000256061	21493	https://pubmed.ncbi.nlm.nih.gov/?term=DNAAF4	None	None	30494	321
DNAAF5	dynein axonemal assembly factor 5	Primary ciliary dyskinesia 18?0015868;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAAF5	54919	ENSG00000164818	26013	https://pubmed.ncbi.nlm.nih.gov/?term=DNAAF5	None	None	28750	15
DNAAF6	dynein axonemal assembly factor 6	Ciliary dyskinesia, primary, 36, X-linked?0015280;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAAF6	139212	ENSG00000080572	28570	https://pubmed.ncbi.nlm.nih.gov/?term=DNAAF6	None	None	None	56
DNAH1	dynein axonemal heavy chain 1	Ciliary dyskinesia, primary, 37?0016239;Spermatogenic failure 18?0018402;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAH1	25981	ENSG00000114841	2940	https://pubmed.ncbi.nlm.nih.gov/?term=DNAH1	None	None	34493	91
DNAH11	dynein axonemal heavy chain 11	Primary ciliary dyskinesia 7?0015533;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAH11	8701	ENSG00000105877	2942	https://pubmed.ncbi.nlm.nih.gov/?term=DNAH11	None	None	159042	150
DNAH17	dynein axonemal heavy chain 17	Spermatogenic failure 39?0018410	https://raresource.nih.gov/literature/gene/DNAH17	8632	ENSG00000187775	2946	https://pubmed.ncbi.nlm.nih.gov/?term=DNAH17	None	None	81611	67
DNAH5	dynein axonemal heavy chain 5	Primary ciliary dyskinesia?0004484;Primary ciliary dyskinesia 3?0015436	https://raresource.nih.gov/literature/gene/DNAH5	1767	ENSG00000039139	2950	https://pubmed.ncbi.nlm.nih.gov/?term=DNAH5	None	None	99549	403
DNAH7	dynein axonemal heavy chain 7	Ciliary dyskinesia, primary, 50?0026797	https://raresource.nih.gov/literature/gene/DNAH7	56171	ENSG00000118997	18661	https://pubmed.ncbi.nlm.nih.gov/?term=DNAH7	None	None	117285	28
DNAH9	dynein axonemal heavy chain 9	Situs inversus?0004883;Ciliary dyskinesia, primary, 40?0025717;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAH9	1770	ENSG00000007174	2953	https://pubmed.ncbi.nlm.nih.gov/?term=DNAH9	None	None	129453	85
DNAI1	dynein axonemal intermediate chain 1	Kartagener syndrome?0024674;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAI1	27019	ENSG00000122735	2954	https://pubmed.ncbi.nlm.nih.gov/?term=DNAI1	None	None	21892	399
DNAI2	dynein axonemal intermediate chain 2	Primary ciliary dyskinesia 9?0015558;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAI2	64446	ENSG00000171595	18744	https://pubmed.ncbi.nlm.nih.gov/?term=DNAI2	None	None	12565	56
DNAJB11	DnaJ heat shock protein family (Hsp40) member B11	Polycystic kidney disease 6 with or without polycystic liver disease?0025984	https://raresource.nih.gov/literature/gene/DNAJB11	51726	ENSG00000090520	14889	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJB11	None	None	6902	107
DNAJB13	DnaJ heat shock protein family (Hsp40) member B13	Primary ciliary dyskinesia 34?0016187;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAJB13	374407	ENSG00000187726	30718	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJB13	None	None	6743	73
DNAJB2	DnaJ heat shock protein family (Hsp40) member B2	Neuronopathy, distal hereditary motor, autosomal recessive 5?0017421	https://raresource.nih.gov/literature/gene/DNAJB2	3300	ENSG00000135924	5228	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJB2	None	None	4053	50
DNAJB4	DnaJ heat shock protein family (Hsp40) member B4	Congenital myopathy 21 with early respiratory failure?0026792	https://raresource.nih.gov/literature/gene/DNAJB4	11080	ENSG00000162616	14886	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJB4	None	None	6005	94
DNAJB6	DnaJ heat shock protein family (Hsp40) member B6	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)?0012528	https://raresource.nih.gov/literature/gene/DNAJB6	10049	ENSG00000105993	14888	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJB6	None	None	38126	116
DNAJC12	DnaJ heat shock protein family (Hsp40) member C12	Hyperphenylalaninemia due to DNAJC12 deficiency?0017950	https://raresource.nih.gov/literature/gene/DNAJC12	56521	ENSG00000108176	28908	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJC12	None	None	17502	78
DNAJC19	DnaJ heat shock protein family (Hsp40) member C19	3-methylglutaconic aciduria type 5?0012964	https://raresource.nih.gov/literature/gene/DNAJC19	131118	ENSG00000205981	30528	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJC19	None	None	3179	82
DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	Bone marrow failure syndrome 3?0025030;Shwachman syndrome?0004863;DNAJC21-related Shwachman Diamond syndrome?0027534	https://raresource.nih.gov/literature/gene/DNAJC21	134218	ENSG00000168724	27030	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJC21	None	None	12991	175
DNAJC3	DnaJ heat shock protein family (Hsp40) member C3	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome?0017768	https://raresource.nih.gov/literature/gene/DNAJC3	5611	ENSG00000102580	9439	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJC3	None	None	30915	3
DNAJC30	DnaJ heat shock protein family (Hsp40) member C30	Leber-like hereditary optic neuropathy, autosomal recessive 1?0026960	https://raresource.nih.gov/literature/gene/DNAJC30	84277	ENSG00000176410	16410	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJC30	None	None	1777	37
DNAJC5	DnaJ heat shock protein family (Hsp40) member C5	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)?0001222	https://raresource.nih.gov/literature/gene/DNAJC5	80331	ENSG00000101152	16235	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJC5	None	None	14560	1785
DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	Atypical juvenile parkinsonism?0017621;Juvenile onset Parkinson disease 19A?0018461;Young-onset Parkinson disease?0016610	https://raresource.nih.gov/literature/gene/DNAJC6	9829	ENSG00000116675	15469	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJC6	None	None	61340	19
DNAL1	dynein axonemal light chain 1	Primary ciliary dyskinesia 16?0015743;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAL1	83544	ENSG00000119661	23247	https://pubmed.ncbi.nlm.nih.gov/?term=DNAL1	None	None	17057	237
DNAL4	dynein axonemal light chain 4	Mirror movements 3?0016055;Bimanual synkinesia?0012551	https://raresource.nih.gov/literature/gene/DNAL4	10126	ENSG00000100246	2955	https://pubmed.ncbi.nlm.nih.gov/?term=DNAL4	None	None	181	12
DNASE1L3	deoxyribonuclease 1L3	Autosomal systemic lupus erythematosus type 16?0017368;Hypocomplementemic urticarial vasculitis?0006725	https://raresource.nih.gov/literature/gene/DNASE1L3	1776	ENSG00000163687	2959	https://pubmed.ncbi.nlm.nih.gov/?term=DNASE1L3	None	None	10800	373
DNM1	dynamin 1	Lennox-Gastaut syndrome?0009912;Undetermined early-onset epileptic encephalopathy?0015028;Developmental and epileptic encephalopathy, 31B?0026796;Developmental and epileptic encephalopathy, 31A?0016094;DNM1-encephalopathy and neurodevelopmental disorder?0027295	https://raresource.nih.gov/literature/gene/DNM1	1759	ENSG00000106976	2972	https://pubmed.ncbi.nlm.nih.gov/?term=DNM1	None	None	19898	560
DNM1L	dynamin 1 like	Optic atrophy 5?0010201;Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1?0017509	https://raresource.nih.gov/literature/gene/DNM1L	10059	ENSG00000087470	2973	https://pubmed.ncbi.nlm.nih.gov/?term=DNM1L	None	None	20245	4434
DNM2	dynamin 2	Autosomal dominant Charcot-Marie-Tooth disease type 2M?0017147;Autosomal dominant centronuclear myopathy?0012719;Fetal akinesia-cerebral and retinal hemorrhage syndrome?0017553;Charcot-Marie-Tooth disease dominant intermediate B?0012438	https://raresource.nih.gov/literature/gene/DNM2	1785	ENSG00000079805	2974	https://pubmed.ncbi.nlm.nih.gov/?term=DNM2	None	None	33045	810
DNMBP	dynamin binding protein	Congenital total cataract?0001159;Cataract 48?0016350	https://raresource.nih.gov/literature/gene/DNMBP	23268	ENSG00000107554	30373	https://pubmed.ncbi.nlm.nih.gov/?term=DNMBP	None	None	49437	168
DNMT1	DNA methyltransferase 1	Hereditary sensory neuropathy-deafness-dementia syndrome?0011927;Autosomal dominant cerebellar ataxia, deafness and narcolepsy?0012372	https://raresource.nih.gov/literature/gene/DNMT1	1786	ENSG00000130816	2976	https://pubmed.ncbi.nlm.nih.gov/?term=DNMT1	None	None	20360	6706
DNMT3A	DNA methyltransferase 3 alpha	Sporadic pheochromocytoma/secreting paraganglioma?0007385;Acute myeloid leukemia?0012757;Acute myeloid leukemia with multilineage dysplasia?0012761;Tatton-Brown-Rahman overgrowth syndrome?0017674;Heyn-Sproul-Jackson syndrome?0025766	https://raresource.nih.gov/literature/gene/DNMT3A	1788	ENSG00000119772	2978	https://pubmed.ncbi.nlm.nih.gov/?term=DNMT3A	None	None	57552	4954
DNMT3B	DNA methyltransferase 3 beta	Facioscapulohumeral muscular dystrophy 4, digenic?0025549;Immunodeficiency-centromeric instability-facial anomalies syndrome 1?0015188;Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency?0002945	https://raresource.nih.gov/literature/gene/DNMT3B	1789	ENSG00000088305	2979	https://pubmed.ncbi.nlm.nih.gov/?term=DNMT3B	None	None	13592	2634
DOCK11	dedicator of cytokinesis 11	Early-onset immune dysregulation due to DOCK11 complete deficiency?0026947;Autoinflammatory disease, multisystem, with immune dysregulation, X-linked?0026852;Early-onset autoimmune disorder due to DOCK11 partial deficiency?0026946	https://raresource.nih.gov/literature/gene/DOCK11	139818	ENSG00000147251	23483	https://pubmed.ncbi.nlm.nih.gov/?term=DOCK11	None	None	33861	98
DOCK2	dedicator of cytokinesis 2	DOCK2 deficiency?0012653	https://raresource.nih.gov/literature/gene/DOCK2	1794	ENSG00000134516	2988	https://pubmed.ncbi.nlm.nih.gov/?term=DOCK2	None	None	163166	234
DOCK3	dedicator of cytokinesis 3	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia?0018515	https://raresource.nih.gov/literature/gene/DOCK3	1795	ENSG00000088538	2989	https://pubmed.ncbi.nlm.nih.gov/?term=DOCK3	None	None	258462	916
DOCK6	dedicator of cytokinesis 6	Adams-Oliver syndrome?0005739;Adams-Oliver syndrome 2?0015775	https://raresource.nih.gov/literature/gene/DOCK6	57572	ENSG00000130158	19189	https://pubmed.ncbi.nlm.nih.gov/?term=DOCK6	None	None	20217	92
DOCK7	dedicator of cytokinesis 7	Developmental and epileptic encephalopathy, 23?0017687	https://raresource.nih.gov/literature/gene/DOCK7	85440	ENSG00000116641	19190	https://pubmed.ncbi.nlm.nih.gov/?term=DOCK7	None	None	89999	87
DOCK8	dedicator of cytokinesis 8	Intellectual disability, autosomal dominant 2?0016458;Combined immunodeficiency due to DOCK8 deficiency?0002816;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/DOCK8	81704	ENSG00000107099	19191	https://pubmed.ncbi.nlm.nih.gov/?term=DOCK8	None	None	125329	453
DOK7	docking protein 7	Postsynaptic congenital myasthenic syndrome?0015022;Fetal akinesia deformation sequence 3?0016496;Congenital myasthenic syndrome 10?0015206	https://raresource.nih.gov/literature/gene/DOK7	285489	ENSG00000175920	26594	https://pubmed.ncbi.nlm.nih.gov/?term=DOK7	None	None	26742	246
DOLK	dolichol kinase	DK1-congenital disorder of glycosylation?0012393;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/DOLK	22845	ENSG00000175283	23406	https://pubmed.ncbi.nlm.nih.gov/?term=DOLK	None	None	1797	177
DONSON	DNA replication fork stabilization factor DONSON	Microcephaly, short stature, and limb abnormalities?0018655;Microcephaly-micromelia syndrome?0018011	https://raresource.nih.gov/literature/gene/DONSON	29980	ENSG00000159147	2993	https://pubmed.ncbi.nlm.nih.gov/?term=DONSON	None	None	5707	149
DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	Congenital myasthenic syndrome 13?0018452;DPAGT1-congenital disorder of glycosylation?0009837	https://raresource.nih.gov/literature/gene/DPAGT1	1798	ENSG00000172269	2995	https://pubmed.ncbi.nlm.nih.gov/?term=DPAGT1	None	None	2891	3173
DPF2	double PHD fingers 2	Coffin-Siris syndrome 7?0016287;Coffin-Siris syndrome?0006124	https://raresource.nih.gov/literature/gene/DPF2	5977	ENSG00000133884	9964	https://pubmed.ncbi.nlm.nih.gov/?term=DPF2	None	None	10053	71
DPH1	diphthamide biosynthesis 1	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1?0017814	https://raresource.nih.gov/literature/gene/DPH1	1801	ENSG00000108963	3003	https://pubmed.ncbi.nlm.nih.gov/?term=DPH1	None	None	5723	94
DPM1	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	Congenital disorder of glycosylation type 1E?0009831	https://raresource.nih.gov/literature/gene/DPM1	8813	ENSG00000000419	3005	https://pubmed.ncbi.nlm.nih.gov/?term=DPM1	None	None	6426	97
DPM2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	Congenital muscular dystrophy with intellectual disability and severe epilepsy?0012416	https://raresource.nih.gov/literature/gene/DPM2	8818	ENSG00000136908	3006	https://pubmed.ncbi.nlm.nih.gov/?term=DPM2	None	None	2819	46
DPM3	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	DPM3-congenital disorder of glycosylation?0012395;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15?0025809	https://raresource.nih.gov/literature/gene/DPM3	54344	ENSG00000179085	3007	https://pubmed.ncbi.nlm.nih.gov/?term=DPM3	None	None	1127	35
DPP6	dipeptidyl peptidase like 6	Intellectual disability, autosomal dominant 33?0016082;Ventricular fibrillation, paroxysmal familial, 2?0015596;Paroxysmal familial ventricular fibrillation?0004227;Autosomal dominant primary microcephaly?0003605	https://raresource.nih.gov/literature/gene/DPP6	1804	ENSG00000130226	3010	https://pubmed.ncbi.nlm.nih.gov/?term=DPP6	None	None	388213	14
DPY19L2	dpy-19 like 2	Spermatogenic failure 9?0015735;Male infertility due to globozoospermia?0012502	https://raresource.nih.gov/literature/gene/DPY19L2	283417	ENSG00000177990	19414	https://pubmed.ncbi.nlm.nih.gov/?term=DPY19L2	None	None	29359	81
DPYD	dihydropyrimidine dehydrogenase	Dihydropyrimidine dehydrogenase deficiency?0000019	https://raresource.nih.gov/literature/gene/DPYD	1806	ENSG00000188641	3012	https://pubmed.ncbi.nlm.nih.gov/?term=DPYD	None	None	366115	240
DPYS	dihydropyrimidinase	Dihydropyrimidinase deficiency?0012347	https://raresource.nih.gov/literature/gene/DPYS	1807	ENSG00000147647	3013	https://pubmed.ncbi.nlm.nih.gov/?term=DPYS	None	None	42778	56
DPYSL2	dihydropyrimidinase like 2	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/DPYSL2	1808	ENSG00000092964	3014	https://pubmed.ncbi.nlm.nih.gov/?term=DPYSL2	None	None	51563	786
DPYSL5	dihydropyrimidinase like 5	Ritscher-Schinzel syndrome 4?0025541;Ritscher-Schinzel syndrome?0005666	https://raresource.nih.gov/literature/gene/DPYSL5	56896	ENSG00000157851	20637	https://pubmed.ncbi.nlm.nih.gov/?term=DPYSL5	None	None	38862	295
DRAM2	DNA damage regulated autophagy modulator 2	Cone-rod dystrophy?0010790;Cone-rod dystrophy 21?0016125	https://raresource.nih.gov/literature/gene/DRAM2	128338	ENSG00000156171	28769	https://pubmed.ncbi.nlm.nih.gov/?term=DRAM2	None	None	9275	37
DRC1	dynein regulatory complex subunit 1	Primary ciliary dyskinesia 21?0015940;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DRC1	92749	ENSG00000157856	24245	https://pubmed.ncbi.nlm.nih.gov/?term=DRC1	None	None	22558	68
DSC2	desmocollin 2	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form?0017346;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form?0017347;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form?0017345;Arrhythmogenic right ventricular dysplasia 11?0024870	https://raresource.nih.gov/literature/gene/DSC2	1824	ENSG00000134755	3036	https://pubmed.ncbi.nlm.nih.gov/?term=DSC2	None	None	11875	459
DSC3	desmocollin 3	Hereditary hypotrichosis with recurrent skin vesicles?0017124	https://raresource.nih.gov/literature/gene/DSC3	1825	ENSG00000134762	3037	https://pubmed.ncbi.nlm.nih.gov/?term=DSC3	None	None	15142	580
DSE	dermatan sulfate epimerase	Ehlers-Danlos syndrome, musculocontractural type?0008486;Ehlers-Danlos syndrome, musculocontractural type 2?0015982	https://raresource.nih.gov/literature/gene/DSE	29940	ENSG00000111817	21144	https://pubmed.ncbi.nlm.nih.gov/?term=DSE	None	None	69094	69
DSG1	desmoglein 1	Palmoplantar keratoderma i, striate, focal, or diffuse?0009172;Diffuse palmoplantar keratoderma with painful fissures?0017595;Striate palmoplantar keratoderma?0015016;Severe dermatitis-multiple allergies-metabolic wasting syndrome?0017594;Focal palmoplantar keratoderma with joint keratoses?0017596	https://raresource.nih.gov/literature/gene/DSG1	1828	ENSG00000134760	3048	https://pubmed.ncbi.nlm.nih.gov/?term=DSG1	None	None	12562	1236
DSG2	desmoglein 2	Familial isolated dilated cardiomyopathy?0027293;Familial isolated arrhythmogenic ventricular dysplasia, biventricular form?0017346;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form?0017347;Arrhythmogenic right ventricular dysplasia 10?0024865;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form?0017345;Dilated cardiomyopathy 1BB?0015588	https://raresource.nih.gov/literature/gene/DSG2	1829	ENSG00000046604	3049	https://pubmed.ncbi.nlm.nih.gov/?term=DSG2	None	None	13096	622
DSG4	desmoglein 4	Hypotrichosis 6?0015423;Monilethrix?0000093;Hypotrichosis simplex?0009170	https://raresource.nih.gov/literature/gene/DSG4	147409	ENSG00000175065	21307	https://pubmed.ncbi.nlm.nih.gov/?term=DSG4	None	None	10060	113
DSP	desmoplakin	Keratosis palmoplantaris striata 2?0015590;Familial isolated arrhythmogenic ventricular dysplasia, biventricular form?0017346;Skin fragility-woolly hair-palmoplantar keratoderma syndrome?0005231;Familial isolated dilated cardiomyopathy?0027293;Lethal acantholytic epidermolysis bullosa?0009910;Arrhythmogenic right ventricular dysplasia 8?0024825;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form?0017347;Arrhythmogenic cardiomyopathy with wooly hair and keratoderma?0005595;Striate palmoplantar keratoderma?0015016;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form?0017345;Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis?0016014	https://raresource.nih.gov/literature/gene/DSP	1832	ENSG00000096696	3052	https://pubmed.ncbi.nlm.nih.gov/?term=DSP	None	None	21468	2501
DSPP	dentin sialophosphoprotein	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1?0015383;Dentinogenesis imperfecta type 3?0010144;Dentinogenesis imperfecta type 2?0012796;Denticles?0001806	https://raresource.nih.gov/literature/gene/DSPP	1834	ENSG00000152591	3054	https://pubmed.ncbi.nlm.nih.gov/?term=DSPP	None	None	6074	3618
DST	dystonin	Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency?0017690;Hereditary sensory and autonomic neuropathy type 6?0012987	https://raresource.nih.gov/literature/gene/DST	667	ENSG00000151914	1090	https://pubmed.ncbi.nlm.nih.gov/?term=DST	None	None	165039	1115
DSTYK	dual serine/threonine and tyrosine protein kinase	Hereditary spastic paraplegia 23?0000336;Congenital anomalies of kidney and urinary tract 1?0024873;Unilateral renal agenesis?0016804	https://raresource.nih.gov/literature/gene/DSTYK	25778	ENSG00000133059	29043	https://pubmed.ncbi.nlm.nih.gov/?term=DSTYK	None	None	28389	45
DTNA	dystrobrevin alpha	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2?0027327;Left ventricular noncompaction 1?0024797	https://raresource.nih.gov/literature/gene/DTNA	1837	ENSG00000134769	3057	https://pubmed.ncbi.nlm.nih.gov/?term=DTNA	None	None	88596	86
DTNBP1	dystrobrevin binding protein 1	Hermansky-Pudlak syndrome 7?0018336	https://raresource.nih.gov/literature/gene/DTNBP1	84062	ENSG00000047579	17328	https://pubmed.ncbi.nlm.nih.gov/?term=DTNBP1	None	None	52752	508
DTYMK	deoxythymidylate kinase	Neurodegeneration, childhood-onset, with progressive microcephaly?0027309	https://raresource.nih.gov/literature/gene/DTYMK	1841	ENSG00000168393	3061	https://pubmed.ncbi.nlm.nih.gov/?term=DTYMK	None	None	4271	435
DUOX2	dual oxidase 2	Thyroid dyshormonogenesis 6?0018193;Familial thyroid dyshormonogenesis?0016843	https://raresource.nih.gov/literature/gene/DUOX2	50506	ENSG00000140279	13273	https://pubmed.ncbi.nlm.nih.gov/?term=DUOX2	None	None	7293	1281
DUOXA2	dual oxidase maturation factor 2	Thyroglobulin synthesis defect?0018192;Familial thyroid dyshormonogenesis?0016843	https://raresource.nih.gov/literature/gene/DUOXA2	405753	ENSG00000140274	32698	https://pubmed.ncbi.nlm.nih.gov/?term=DUOXA2	None	None	1089	150
DUSP6	dual specificity phosphatase 6	Hypogonadism with anosmia?0010771;Hypogonadotropic hypogonadism?0016533;Hypogonadotropic hypogonadism 19 with or without anosmia?0015931	https://raresource.nih.gov/literature/gene/DUSP6	1848	ENSG00000139318	3072	https://pubmed.ncbi.nlm.nih.gov/?term=DUSP6	None	None	3054	750
DVL1	dishevelled segment polarity protein 1	Autosomal dominant Robinow syndrome?0016620;Autosomal dominant Robinow syndrome 1?0002013;Autosomal dominant Robinow syndrome 2?0018548	https://raresource.nih.gov/literature/gene/DVL1	1855	ENSG00000107404	3084	https://pubmed.ncbi.nlm.nih.gov/?term=DVL1	None	None	9061	15
DVL3	dishevelled segment polarity protein 3	Autosomal dominant Robinow syndrome?0016620;Autosomal dominant Robinow syndrome 3?0018549	https://raresource.nih.gov/literature/gene/DVL3	1857	ENSG00000161202	3087	https://pubmed.ncbi.nlm.nih.gov/?term=DVL3	None	None	8125	224
DYM	dymeclin	Smith-McCort dysplasia?0010620;Dyggve-Melchior-Clausen syndrome?0006295;Smith-McCort dysplasia 1?0015411	https://raresource.nih.gov/literature/gene/DYM	54808	ENSG00000141627	21317	https://pubmed.ncbi.nlm.nih.gov/?term=DYM	None	None	107453	679
DYNC1H1	dynein cytoplasmic 1 heavy chain 1	Autosomal dominant non-syndromic intellectual disability?0012107;Charcot-Marie-Tooth disease axonal type 2O?0012434;Dyneinopathy?0027115;Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures?0013519;Intellectual disability, autosomal dominant 13?0016462	https://raresource.nih.gov/literature/gene/DYNC1H1	1778	ENSG00000197102	2961	https://pubmed.ncbi.nlm.nih.gov/?term=DYNC1H1	None	None	29951	1348
DYNC2H1	dynein cytoplasmic 2 heavy chain 1	Asphyxiating thoracic dystrophy 3?0015613;Jeune thoracic dystrophy?0003049;Short rib-polydactyly syndrome, Majewski type?0004833	https://raresource.nih.gov/literature/gene/DYNC2H1	79659	ENSG00000187240	2962	https://pubmed.ncbi.nlm.nih.gov/?term=DYNC2H1	None	None	89777	150
DYNC2I1	dynein 2 intermediate chain 1	Jeune thoracic dystrophy?0003049;Short-rib thoracic dysplasia 8 with or without polydactyly?0015975	https://raresource.nih.gov/literature/gene/DYNC2I1	55112	ENSG00000126870	21862	https://pubmed.ncbi.nlm.nih.gov/?term=DYNC2I1	None	None	None	33
DYNC2I2	dynein 2 intermediate chain 2	Jeune thoracic dystrophy?0003049;Short-rib thoracic dysplasia 11 with or without polydactyly?0015996	https://raresource.nih.gov/literature/gene/DYNC2I2	89891	ENSG00000119333	28296	https://pubmed.ncbi.nlm.nih.gov/?term=DYNC2I2	None	None	None	36
DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	Short-rib thoracic dysplasia 15 with polydactyly?0016185;Jeune thoracic dystrophy?0003049	https://raresource.nih.gov/literature/gene/DYNC2LI1	51626	ENSG00000138036	24595	https://pubmed.ncbi.nlm.nih.gov/?term=DYNC2LI1	None	None	15155	39
DYNLT2B	dynein light chain Tctex-type 2B	Short-rib thoracic dysplasia 17 with or without polydactyly?0025950	https://raresource.nih.gov/literature/gene/DYNLT2B	255758	ENSG00000213123	28482	https://pubmed.ncbi.nlm.nih.gov/?term=DYNLT2B	None	None	None	19
DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	Intellectual disability syndrome due to a DYRK1A point mutation?0021926;Tetralogy of Fallot?0002245;DYRK1A-related intellectual disability syndrome?0013527	https://raresource.nih.gov/literature/gene/DYRK1A	1859	ENSG00000157540	3091	https://pubmed.ncbi.nlm.nih.gov/?term=DYRK1A	None	None	51738	1278
DYRK1B	dual specificity tyrosine phosphorylation regulated kinase 1B	Abdominal obesity-metabolic syndrome 3?0024989	https://raresource.nih.gov/literature/gene/DYRK1B	9149	ENSG00000105204	3092	https://pubmed.ncbi.nlm.nih.gov/?term=DYRK1B	None	None	3876	211
DYSF	dysferlin	Miyoshi myopathy?0009676;Neuromuscular disease caused by qualitative or quantitative defects of dysferlin?0002003;Congenital myopathy, Paradas type?0020335;Autosomal recessive limb-girdle muscular dystrophy type 2B?0008574;Miyoshi muscular dystrophy 1?0025425;Distal myopathy with anterior tibial onset?0017080	https://raresource.nih.gov/literature/gene/DYSF	8291	ENSG00000135636	3097	https://pubmed.ncbi.nlm.nih.gov/?term=DYSF	None	None	98298	889
DZIP1	DAZ interacting zinc finger protein 1	Tetralogy of Fallot?0002245;Mitral valve prolapse, myxomatous 3?0015501	https://raresource.nih.gov/literature/gene/DZIP1	22873	ENSG00000134874	20908	https://pubmed.ncbi.nlm.nih.gov/?term=DZIP1	None	None	22448	61
DZIP1L	DAZ interacting zinc finger protein 1 like	Polycystic kidney disease 5?0016242;Autosomal recessive polycystic kidney disease?0008378	https://raresource.nih.gov/literature/gene/DZIP1L	199221	ENSG00000158163	26551	https://pubmed.ncbi.nlm.nih.gov/?term=DZIP1L	None	None	18772	30
EARS2	glutamyl-tRNA synthetase 2, mitochondrial	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome?0013381	https://raresource.nih.gov/literature/gene/EARS2	124454	ENSG00000103356	29419	https://pubmed.ncbi.nlm.nih.gov/?term=EARS2	None	None	11166	413
EBF3	EBF transcription factor 3	Hypotonia, ataxia, and delayed development syndrome?0025054	https://raresource.nih.gov/literature/gene/EBF3	253738	ENSG00000108001	19087	https://pubmed.ncbi.nlm.nih.gov/?term=EBF3	None	None	52100	143
EBP	EBP cholestenol delta-isomerase	MEND syndrome?0017666;Chondrodysplasia punctata 2 X-linked dominant?0006189	https://raresource.nih.gov/literature/gene/EBP	10682	ENSG00000147155	3133	https://pubmed.ncbi.nlm.nih.gov/?term=EBP	None	None	89	10799
ECEL1	endothelin converting enzyme like 1	Distal arthrogryposis type 5D?0013059	https://raresource.nih.gov/literature/gene/ECEL1	9427	ENSG00000171551	3147	https://pubmed.ncbi.nlm.nih.gov/?term=ECEL1	None	None	5283	93
ECHS1	enoyl-CoA hydratase, short chain 1	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency?0013019	https://raresource.nih.gov/literature/gene/ECHS1	1892	ENSG00000127884	3151	https://pubmed.ncbi.nlm.nih.gov/?term=ECHS1	None	None	6728	192
ECM1	extracellular matrix protein 1	Lipid proteinosis?0003268	https://raresource.nih.gov/literature/gene/ECM1	1893	ENSG00000143369	3153	https://pubmed.ncbi.nlm.nih.gov/?term=ECM1	None	None	3336	420
EDA	ectodysplasin A	Hypodontia?0016908;Hypohidrotic X-linked ectodermal dysplasia?0010427;Tooth agenesis, selective, X-linked, 1?0018246	https://raresource.nih.gov/literature/gene/EDA	1896	ENSG00000158813	3157	https://pubmed.ncbi.nlm.nih.gov/?term=EDA	None	None	74807	2185
EDAR	ectodysplasin A receptor	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome?0002057;Autosomal dominant hypohidrotic ectodermal dysplasia?0002048;Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive?0015163;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant?0018591	https://raresource.nih.gov/literature/gene/EDAR	10913	ENSG00000135960	2895	https://pubmed.ncbi.nlm.nih.gov/?term=EDAR	None	None	35730	765
EDARADD	EDAR associated via death domain	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome?0002057;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive?0015885;Autosomal dominant hypohidrotic ectodermal dysplasia?0002048;Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant?0018592;Hypodontia?0016908	https://raresource.nih.gov/literature/gene/EDARADD	128178	ENSG00000186197	14341	https://pubmed.ncbi.nlm.nih.gov/?term=EDARADD	None	None	68551	1853
EDC3	enhancer of mRNA decapping 3	Intellectual disability, autosomal recessive 50?0022570;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/EDC3	80153	ENSG00000179151	26114	https://pubmed.ncbi.nlm.nih.gov/?term=EDC3	None	None	16761	89
EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	Congenital disorder of glycosylation, type 2v?0025557	https://raresource.nih.gov/literature/gene/EDEM3	80267	ENSG00000116406	16787	https://pubmed.ncbi.nlm.nih.gov/?term=EDEM3	None	None	10855	45
EDN1	endothelin 1	Auriculocondylar syndrome?0009798;Auriculocondylar syndrome 3?0016003;Question mark ears, isolated?0015583	https://raresource.nih.gov/literature/gene/EDN1	1906	ENSG00000078401	3176	https://pubmed.ncbi.nlm.nih.gov/?term=EDN1	None	None	4093	18515
EDN3	endothelin 3	Waardenburg-Shah syndrome?0005524;Waardenburg syndrome type 4B?0015641	https://raresource.nih.gov/literature/gene/EDN3	1908	ENSG00000124205	3178	https://pubmed.ncbi.nlm.nih.gov/?term=EDN3	None	None	8200	1698
EDNRA	endothelin receptor type A	Mandibulofacial dysostosis with alopecia?0017758	https://raresource.nih.gov/literature/gene/EDNRA	1909	ENSG00000151617	3179	https://pubmed.ncbi.nlm.nih.gov/?term=EDNRA	None	None	23912	14815
EDNRB	endothelin receptor type B	Waardenburg-Shah syndrome?0005524;Waardenburg syndrome type 4A?0015245;Waardenburg syndrome type 2?0005520	https://raresource.nih.gov/literature/gene/EDNRB	1910	ENSG00000136160	3180	https://pubmed.ncbi.nlm.nih.gov/?term=EDNRB	None	None	21155	2825
EED	embryonic ectoderm development	Cohen-Gibson syndrome?0016235	https://raresource.nih.gov/literature/gene/EED	8726	ENSG00000074266	3188	https://pubmed.ncbi.nlm.nih.gov/?term=EED	None	None	12861	600
EEF1A2	eukaryotic translation elongation factor 1 alpha 2	Developmental and epileptic encephalopathy, 33?0016106;Intellectual disability, autosomal dominant 38?0016469;Undetermined early-onset epileptic encephalopathy?0015028;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/EEF1A2	1917	ENSG00000101210	3192	https://pubmed.ncbi.nlm.nih.gov/?term=EEF1A2	None	None	7479	1171
EEF1B2	eukaryotic translation elongation factor 1 beta 2	Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/EEF1B2	1933	ENSG00000114942	3208	https://pubmed.ncbi.nlm.nih.gov/?term=EEF1B2	None	None	2031	172
EEF2	eukaryotic translation elongation factor 2	Spinocerebellar ataxia type 26?0009995	https://raresource.nih.gov/literature/gene/EEF2	1938	ENSG00000167658	3214	https://pubmed.ncbi.nlm.nih.gov/?term=EEF2	None	None	6167	1920
EFEMP1	EGF containing fibulin extracellular matrix protein 1	Cutis laxa, autosomal recessive, type 1d?0027015;Doyne honeycomb retinal dystrophy?0001912;Glaucoma of childhood?0016883;Ehlers-Danlos syndrome, type 4?0002082	https://raresource.nih.gov/literature/gene/EFEMP1	2202	ENSG00000115380	3218	https://pubmed.ncbi.nlm.nih.gov/?term=EFEMP1	None	None	21937	492
EFEMP2	EGF containing fibulin extracellular matrix protein 2	Lethal arteriopathy syndrome due to fibulin-4 deficiency?0017432;Autosomal recessive cutis laxa type 1?0008480;Familial thoracic aortic aneurysm and aortic dissection?0002249;Ehlers-Danlos syndrome, type 4?0002082;Cutis laxa, autosomal recessive, type 1B?0015804	https://raresource.nih.gov/literature/gene/EFEMP2	30008	ENSG00000172638	3219	https://pubmed.ncbi.nlm.nih.gov/?term=EFEMP2	None	None	3669	308
EFHC1	EF-hand domain containing 1	Juvenile myoclonic epilepsy?0006808;Juvenile absence epilepsy?0002162	https://raresource.nih.gov/literature/gene/EFHC1	114327	ENSG00000096093	16406	https://pubmed.ncbi.nlm.nih.gov/?term=EFHC1	None	None	57773	88
EFL1	elongation factor like GTPase 1	Shwachman syndrome?0004863;Shwachman-Diamond syndrome 2?0016272	https://raresource.nih.gov/literature/gene/EFL1	79631	ENSG00000140598	25789	https://pubmed.ncbi.nlm.nih.gov/?term=EFL1	None	None	41701	74
EFNB1	ephrin B1	Craniofrontonasal syndrome?0001578	https://raresource.nih.gov/literature/gene/EFNB1	1947	ENSG00000090776	3226	https://pubmed.ncbi.nlm.nih.gov/?term=EFNB1	None	None	3152	444
EFTUD2	elongation factor Tu GTP binding domain containing 2	Mandibulofacial dysostosis-microcephaly syndrome?0010056	https://raresource.nih.gov/literature/gene/EFTUD2	9343	ENSG00000108883	30858	https://pubmed.ncbi.nlm.nih.gov/?term=EFTUD2	None	None	13355	169
EGF	epidermal growth factor	EGF-related primary hypomagnesemia with intellectual disability?0022485;Renal hypomagnesemia 4?0024886	https://raresource.nih.gov/literature/gene/EGF	1950	ENSG00000138798	3229	https://pubmed.ncbi.nlm.nih.gov/?term=EGF	None	None	38084	43496
EGFR	epidermal growth factor receptor	Inflammatory skin and bowel disease, neonatal, 2?0018430;Neonatal inflammatory skin and bowel disease?0017355	https://raresource.nih.gov/literature/gene/EGFR	1956	ENSG00000146648	3236	https://pubmed.ncbi.nlm.nih.gov/?term=EGFR	None	None	82716	77622
EGLN1	egl-9 family hypoxia inducible factor 1	Erythrocytosis, familial, 3?0018355	https://raresource.nih.gov/literature/gene/EGLN1	54583	ENSG00000135766	1232	https://pubmed.ncbi.nlm.nih.gov/?term=EGLN1	None	None	24178	1130
EGR2	early growth response 2	Dejerine-Sottas disease?0009204;Charcot-Marie-Tooth disease type 4E?0009203;Charcot-Marie-Tooth disease type 1D?0009189	https://raresource.nih.gov/literature/gene/EGR2	1959	ENSG00000122877	3239	https://pubmed.ncbi.nlm.nih.gov/?term=EGR2	None	None	16565	1212
EHBP1	EH domain binding protein 1	Prostate cancer, hereditary, 12?0015529	https://raresource.nih.gov/literature/gene/EHBP1	23301	ENSG00000115504	29144	https://pubmed.ncbi.nlm.nih.gov/?term=EHBP1	None	None	133982	57
EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	Primary Fanconi syndrome?0009118;Fanconi renotubular syndrome 3?0015991	https://raresource.nih.gov/literature/gene/EHHADH	1962	ENSG00000113790	3247	https://pubmed.ncbi.nlm.nih.gov/?term=EHHADH	None	None	34530	2129
EHMT1	euchromatic histone lysine methyltransferase 1	Kleefstra syndrome 1?0025497;Tetralogy of Fallot?0002245;Kleefstra syndrome due to a point mutation?0017253	https://raresource.nih.gov/literature/gene/EHMT1	79813	ENSG00000181090	24650	https://pubmed.ncbi.nlm.nih.gov/?term=EHMT1	None	None	106689	3411
EIF1AX	eukaryotic translation initiation factor 1A X-linked	Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/EIF1AX	1964	ENSG00000173674	3250	https://pubmed.ncbi.nlm.nih.gov/?term=EIF1AX	None	None	4521	370
EIF2AK2	eukaryotic translation initiation factor 2 alpha kinase 2	Dystonia 33?0025587	https://raresource.nih.gov/literature/gene/EIF2AK2	5610	ENSG00000055332	9437	https://pubmed.ncbi.nlm.nih.gov/?term=EIF2AK2	None	None	25256	3426
EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	Wolcott-Rallison dysplasia?0005589	https://raresource.nih.gov/literature/gene/EIF2AK3	9451	ENSG00000172071	3255	https://pubmed.ncbi.nlm.nih.gov/?term=EIF2AK3	None	None	26096	7114
EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	Familial pulmonary capillary hemangiomatosis?0015027;Pulmonary venoocclusive disease?0010153;Heritable pulmonary arterial hypertension?0011914	https://raresource.nih.gov/literature/gene/EIF2AK4	440275	ENSG00000128829	19687	https://pubmed.ncbi.nlm.nih.gov/?term=EIF2AK4	None	None	25841	1041
EIF2B1	eukaryotic translation initiation factor 2B subunit alpha	Leukoencephalopathy with vanishing white matter 1?0016919;Juvenile or adult CACH syndrome?0016980;Late infantile CACH syndrome?0016979;Congenital or early infantile CACH syndrome?0016978	https://raresource.nih.gov/literature/gene/EIF2B1	1967	ENSG00000111361	3257	https://pubmed.ncbi.nlm.nih.gov/?term=EIF2B1	None	None	3765	495
EIF2B2	eukaryotic translation initiation factor 2B subunit beta	Juvenile or adult CACH syndrome?0016980;Leukoencephalopathy with vanishing white matter 2?0026884;Late infantile CACH syndrome?0016979;Congenital or early infantile CACH syndrome?0016978	https://raresource.nih.gov/literature/gene/EIF2B2	8892	ENSG00000119718	3258	https://pubmed.ncbi.nlm.nih.gov/?term=EIF2B2	None	None	3813	494
EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	Juvenile or adult CACH syndrome?0016980;Leukoencephalopathy with vanishing white matter 3?0026885;Late infantile CACH syndrome?0016979;Congenital or early infantile CACH syndrome?0016978	https://raresource.nih.gov/literature/gene/EIF2B3	8891	ENSG00000070785	3259	https://pubmed.ncbi.nlm.nih.gov/?term=EIF2B3	None	None	54950	155
EIF2B4	eukaryotic translation initiation factor 2B subunit delta	Leukoencephalopathy with vanishing white matter 4?0026886;Juvenile or adult CACH syndrome?0016980;Late infantile CACH syndrome?0016979;Congenital or early infantile CACH syndrome?0016978	https://raresource.nih.gov/literature/gene/EIF2B4	8890	ENSG00000115211	3260	https://pubmed.ncbi.nlm.nih.gov/?term=EIF2B4	None	None	3952	589
EIF2B5	eukaryotic translation initiation factor 2B subunit epsilon	Juvenile or adult CACH syndrome?0016980;Leukoencephalopathy with vanishing white matter 5?0026887;Late infantile CACH syndrome?0016979;Congenital or early infantile CACH syndrome?0016978	https://raresource.nih.gov/literature/gene/EIF2B5	8893	ENSG00000145191	3261	https://pubmed.ncbi.nlm.nih.gov/?term=EIF2B5	None	None	5519	527
EIF2S3	eukaryotic translation initiation factor 2 subunit gamma	MEHMO syndrome?0009178	https://raresource.nih.gov/literature/gene/EIF2S3	1968	ENSG00000130741	3267	https://pubmed.ncbi.nlm.nih.gov/?term=EIF2S3	None	None	6446	4379
EIF3F	eukaryotic translation initiation factor 3 subunit F	Intellectual developmental disorder, autosomal recessive 67?0025716	https://raresource.nih.gov/literature/gene/EIF3F	8665	ENSG00000175390	3275	https://pubmed.ncbi.nlm.nih.gov/?term=EIF3F	None	None	8055	96
EIF4A3	eukaryotic translation initiation factor 4A3	Richieri Costa-Pereira syndrome?0004718	https://raresource.nih.gov/literature/gene/EIF4A3	9775	ENSG00000141543	18683	https://pubmed.ncbi.nlm.nih.gov/?term=EIF4A3	None	None	5423	213
ELAC2	elaC ribonuclease Z 2	Prostate cancer, hereditary, 2?0015839;Combined oxidative phosphorylation defect type 17?0017589	https://raresource.nih.gov/literature/gene/ELAC2	60528	ENSG00000006744	14198	https://pubmed.ncbi.nlm.nih.gov/?term=ELAC2	None	None	8494	174
ELANE	elastase, neutrophil expressed	ELANE-related neutropenia?0027601;Neutropenia, severe congenital, 1, autosomal dominant?0025849;Autosomal dominant severe congenital neutropenia?0009558;Cyclical neutropenia?0006229	https://raresource.nih.gov/literature/gene/ELANE	1991	ENSG00000197561	3309	https://pubmed.ncbi.nlm.nih.gov/?term=ELANE	None	None	3810	7909
ELF4	E74 like ETS transcription factor 4	Autoinflammatory syndrome, familial, X-linked, Behcet-like 2?0025462;Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia?0016538	https://raresource.nih.gov/literature/gene/ELF4	2000	ENSG00000102034	3319	https://pubmed.ncbi.nlm.nih.gov/?term=ELF4	None	None	9451	120
ELMO2	engulfment and cell motility 2	Primary intraosseous venous malformation?0016961;Ramon syndrome?0007523	https://raresource.nih.gov/literature/gene/ELMO2	63916	ENSG00000062598	17233	https://pubmed.ncbi.nlm.nih.gov/?term=ELMO2	None	None	14608	86
ELMOD3	ELMO domain containing 3	Hearing loss, autosomal dominant 81?0025601;Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 88?0022649	https://raresource.nih.gov/literature/gene/ELMOD3	84173	ENSG00000115459	26158	https://pubmed.ncbi.nlm.nih.gov/?term=ELMOD3	None	None	15547	15
ELN	elastin	Williams syndrome?0007891;Tetralogy of Fallot?0002245;Cutis laxa, autosomal dominant 1?0015055;Supravalvar aortic stenosis?0000743;Cutis laxa, autosomal dominant?0001639	https://raresource.nih.gov/literature/gene/ELN	2006	ENSG00000049540	3327	https://pubmed.ncbi.nlm.nih.gov/?term=ELN	None	None	18653	13340
ELOVL4	ELOVL fatty acid elongase 4	Spinocerebellar ataxia type 34?0000059;ELOVL4-related maculopathy?0026377;Stargardt disease?0000181;Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome?0017515;Stargardt disease 3?0015314	https://raresource.nih.gov/literature/gene/ELOVL4	6785	ENSG00000118402	14415	https://pubmed.ncbi.nlm.nih.gov/?term=ELOVL4	None	None	13319	277
ELOVL5	ELOVL fatty acid elongase 5	Spinocerebellar ataxia type 38?0012369	https://raresource.nih.gov/literature/gene/ELOVL5	60481	ENSG00000012660	21308	https://pubmed.ncbi.nlm.nih.gov/?term=ELOVL5	None	None	32975	402
ELP1	elongator acetyltransferase complex subunit 1	Medulloblastoma?0007005;Familial dysautonomia?0007581	https://raresource.nih.gov/literature/gene/ELP1	8518	ENSG00000070061	5959	https://pubmed.ncbi.nlm.nih.gov/?term=ELP1	None	None	27130	1142
ELP2	elongator acetyltransferase complex subunit 2	Intellectual disability, autosomal recessive 58?0013361	https://raresource.nih.gov/literature/gene/ELP2	55250	ENSG00000134759	18248	https://pubmed.ncbi.nlm.nih.gov/?term=ELP2	None	None	15692	85
ELP4	elongator acetyltransferase complex subunit 4	Aniridia 2?0016200	https://raresource.nih.gov/literature/gene/ELP4	26610	ENSG00000109911	1171	https://pubmed.ncbi.nlm.nih.gov/?term=ELP4	None	None	100686	478
EMC1	ER membrane protein complex subunit 1	Cerebellar atrophy, visual impairment, and psychomotor retardation;?0027055;Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome?0017871	https://raresource.nih.gov/literature/gene/EMC1	23065	ENSG00000127463	28957	https://pubmed.ncbi.nlm.nih.gov/?term=EMC1	None	None	14341	38
EMC10	ER membrane protein complex subunit 10	Neurodevelopmental disorder with dysmorphic facies and variable seizures?0018543	https://raresource.nih.gov/literature/gene/EMC10	284361	ENSG00000161671	27609	https://pubmed.ncbi.nlm.nih.gov/?term=EMC10	None	None	7706	33
EMD	emerin	X-linked Emery-Dreifuss muscular dystrophy?0002102;Emery-Dreifuss muscular dystrophy 1, X-linked?0026265	https://raresource.nih.gov/literature/gene/EMD	2010	ENSG00000102119	3331	https://pubmed.ncbi.nlm.nih.gov/?term=EMD	None	None	1698	1292
EMG1	EMG1 N1-specific pseudouridine methyltransferase	Bowen-Conradi syndrome?0005950	https://raresource.nih.gov/literature/gene/EMG1	10436	ENSG00000126749	16912	https://pubmed.ncbi.nlm.nih.gov/?term=EMG1	None	None	1514	94
EMILIN1	elastin microfibril interfacer 1	EMILIN-1-related connective tissue disease?0021994;Ehlers-Danlos syndrome, type 4?0002082;Neuronopathy, distal hereditary motor, autosomal dominant 10?0026687	https://raresource.nih.gov/literature/gene/EMILIN1	11117	ENSG00000138080	19880	https://pubmed.ncbi.nlm.nih.gov/?term=EMILIN1	None	None	4411	212
EML1	EMAP like 1	Band heterotopia of brain?0002250;Subcortical band heterotopia?0001904	https://raresource.nih.gov/literature/gene/EML1	2009	ENSG00000066629	3330	https://pubmed.ncbi.nlm.nih.gov/?term=EML1	None	None	40259	195
EMP2	epithelial membrane protein 2	Nephrotic syndrome, type 10?0024991;Familial idiopathic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/EMP2	2013	ENSG00000213853	3334	https://pubmed.ncbi.nlm.nih.gov/?term=EMP2	None	None	17396	2
EMX2	empty spiracles homeobox 2	Schizencephaly?0000166	https://raresource.nih.gov/literature/gene/EMX2	2018	ENSG00000170370	3341	https://pubmed.ncbi.nlm.nih.gov/?term=EMX2	None	None	4691	350
EN1	engrailed homeobox 1	ENDOVE syndrome, limb-brain type?0018561	https://raresource.nih.gov/literature/gene/EN1	2019	ENSG00000163064	3342	https://pubmed.ncbi.nlm.nih.gov/?term=EN1	None	None	4138	396
ENAM	enamelin	Amelogenesis imperfecta type 1?0000645;Amelogenesis imperfecta type 1C?0015136;Amelogenesis imperfecta - hypoplastic autosomal dominant - local?0015037	https://raresource.nih.gov/literature/gene/ENAM	10117	ENSG00000132464	3344	https://pubmed.ncbi.nlm.nih.gov/?term=ENAM	None	None	8657	366
ENG	endoglin	Hereditary hemorrhagic telangiectasia?0006626;Telangiectasia, hereditary hemorrhagic, type 1?0024627	https://raresource.nih.gov/literature/gene/ENG	2022	ENSG00000106991	3349	https://pubmed.ncbi.nlm.nih.gov/?term=ENG	None	None	17486	3191
ENO3	enolase 3	Glycogen storage disease due to muscle beta-enolase deficiency?0002125	https://raresource.nih.gov/literature/gene/ENO3	2027	ENSG00000108515	3354	https://pubmed.ncbi.nlm.nih.gov/?term=ENO3	None	None	3331	529
ENPP1	ectonucleotide pyrophosphatase/phosphodiesterase 1	Hypophosphatemic rickets, autosomal recessive, 2?0018417;Autosomal recessive hypophosphatemic vitamin D refractory rickets?0017320;Hypopigmentation-punctate palmoplantar keratoderma syndrome?0012384;Arterial calcification, generalized, of infancy, 1?0024642;Arterial calcification of infancy?0008380;Inherited obesity?0018935	https://raresource.nih.gov/literature/gene/ENPP1	5167	ENSG00000197594	3356	https://pubmed.ncbi.nlm.nih.gov/?term=ENPP1	None	None	35481	1222
ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	Hereditary spastic paraplegia 64?0017659	https://raresource.nih.gov/literature/gene/ENTPD1	953	ENSG00000138185	3363	https://pubmed.ncbi.nlm.nih.gov/?term=ENTPD1	None	None	55493	2440
EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	Adams-Oliver syndrome?0005739;Adams-Oliver syndrome 4?0015941	https://raresource.nih.gov/literature/gene/EOGT	285203	ENSG00000163378	28526	https://pubmed.ncbi.nlm.nih.gov/?term=EOGT	None	None	17902	51
EOMES	eomesodermin	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome?0020125	https://raresource.nih.gov/literature/gene/EOMES	8320	ENSG00000163508	3372	https://pubmed.ncbi.nlm.nih.gov/?term=EOMES	None	None	4819	1317
EP300	E1A binding protein p300	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency?0017535;Menke-Hennekam syndrome 2?0025243	https://raresource.nih.gov/literature/gene/EP300	2033	ENSG00000100393	3373	https://pubmed.ncbi.nlm.nih.gov/?term=EP300	None	None	47976	7327
EPAS1	endothelial PAS domain protein 1	Sporadic pheochromocytoma/secreting paraganglioma?0007385;Multiple paragangliomas associated with polycythemia?0021435;Erythrocytosis, familial, 4?0018356	https://raresource.nih.gov/literature/gene/EPAS1	2034	ENSG00000116016	3374	https://pubmed.ncbi.nlm.nih.gov/?term=EPAS1	None	None	40039	1650
EPB41	erythrocyte membrane protein band 4.1	Elliptocytosis 1?0015528;Hereditary elliptocytosis?0006621	https://raresource.nih.gov/literature/gene/EPB41	2035	ENSG00000159023	3377	https://pubmed.ncbi.nlm.nih.gov/?term=EPB41	None	None	89439	1247
EPB41L1	erythrocyte membrane protein band 4.1 like 1	Autosomal dominant non-syndromic intellectual disability?0012107;Intellectual disability, autosomal dominant 11?0016461	https://raresource.nih.gov/literature/gene/EPB41L1	2036	ENSG00000088367	3378	https://pubmed.ncbi.nlm.nih.gov/?term=EPB41L1	None	None	31011	77
EPB42	erythrocyte membrane protein band 4.2	Hereditary spherocytosis type 5?0015578;Hereditary spherocytosis?0006639	https://raresource.nih.gov/literature/gene/EPB42	2038	ENSG00000166947	3381	https://pubmed.ncbi.nlm.nih.gov/?term=EPB42	None	None	6007	4493
EPCAM	epithelial cell adhesion molecule	Lynch syndrome 8?0015638;Congenital diarrhea 5 with tufting enteropathy?0010630	https://raresource.nih.gov/literature/gene/EPCAM	4072	ENSG00000119888	11529	https://pubmed.ncbi.nlm.nih.gov/?term=EPCAM	None	None	35872	5793
EPG5	ectopic P-granules 5 autophagy tethering factor	Vici syndrome?0000448	https://raresource.nih.gov/literature/gene/EPG5	57724	ENSG00000152223	29331	https://pubmed.ncbi.nlm.nih.gov/?term=EPG5	None	None	30475	93
EPHA10	EPH receptor A10	Hearing loss, autosomal dominant 88?0026738	https://raresource.nih.gov/literature/gene/EPHA10	284656	ENSG00000183317	19987	https://pubmed.ncbi.nlm.nih.gov/?term=EPHA10	None	None	20166	58
EPHA2	EPH receptor A2	Congenital total cataract?0001159;Posterior subcapsular cataract?0016889;Cataract 6 multiple types?0010234;Early-onset posterior subcapsular cataract?0021846;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/EPHA2	1969	ENSG00000142627	3386	https://pubmed.ncbi.nlm.nih.gov/?term=EPHA2	None	None	14442	1754
EPHB2	EPH receptor B2	Bleeding disorder, platelet-type, 22?0025737	https://raresource.nih.gov/literature/gene/EPHB2	2048	ENSG00000133216	3393	https://pubmed.ncbi.nlm.nih.gov/?term=EPHB2	None	None	75245	9
EPHB4	EPH receptor B4	Vein of Galen aneurysmal malformation?0005467;Lymphedema praecox?0003324;Capillary malformation-arteriovenous malformation 2?0016307;Lymphatic malformation 7?0025049;EPHB4-related lymphatic-related hydrops fetalis?0022302	https://raresource.nih.gov/literature/gene/EPHB4	2050	ENSG00000196411	3395	https://pubmed.ncbi.nlm.nih.gov/?term=EPHB4	None	None	11931	899
EPM2A	EPM2A glucan phosphatase, laforin	Myoclonic epilepsy of Lafora 1?0026971;Lafora disease?0008214	https://raresource.nih.gov/literature/gene/EPM2A	7957	ENSG00000112425	3413	https://pubmed.ncbi.nlm.nih.gov/?term=EPM2A	None	None	43364	343
EPO	erythropoietin	Erythrocytosis, familial, 5?0025802	https://raresource.nih.gov/literature/gene/EPO	2056	ENSG00000130427	3415	https://pubmed.ncbi.nlm.nih.gov/?term=EPO	None	None	2590	140
EPOR	erythropoietin receptor	Primary familial polycythemia due to EPO receptor mutation?0009843	https://raresource.nih.gov/literature/gene/EPOR	2057	ENSG00000187266	3416	https://pubmed.ncbi.nlm.nih.gov/?term=EPOR	None	None	3235	2432
EPRS1	glutamyl-prolyl-tRNA synthetase 1	Leukodystrophy, hypomyelinating, 15?0025975	https://raresource.nih.gov/literature/gene/EPRS1	2058	ENSG00000136628	3418	https://pubmed.ncbi.nlm.nih.gov/?term=EPRS1	None	None	13152	1657
EPS15L1	epidermal growth factor receptor pathway substrate 15 like 1	Ectrodactyly?0006319	https://raresource.nih.gov/literature/gene/EPS15L1	58513	ENSG00000127527	24634	https://pubmed.ncbi.nlm.nih.gov/?term=EPS15L1	None	None	41759	46
EPS8	EGFR pathway substrate 8, signaling adaptor	Autosomal recessive nonsyndromic hearing loss 102?0022652;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/EPS8	2059	ENSG00000151491	3420	https://pubmed.ncbi.nlm.nih.gov/?term=EPS8	None	None	57004	293
EPS8L2	EPS8 signaling adaptor L2	Hearing loss, autosomal recessive 106?0022656;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/EPS8L2	64787	ENSG00000177106	21296	https://pubmed.ncbi.nlm.nih.gov/?term=EPS8L2	None	None	14446	26
EPS8L3	EPS8 signaling adaptor L3	Marie Unna syndrome?0003390;Hypotrichosis 5?0015585	https://raresource.nih.gov/literature/gene/EPS8L3	79574	ENSG00000198758	21297	https://pubmed.ncbi.nlm.nih.gov/?term=EPS8L3	None	None	5950	16
EPX	eosinophil peroxidase	Eosinophil peroxidase deficiency?0012361	https://raresource.nih.gov/literature/gene/EPX	8288	ENSG00000121053	3423	https://pubmed.ncbi.nlm.nih.gov/?term=EPX	None	None	4172	10707
ERAL1	Era like 12S mitochondrial rRNA chaperone 1	Perrault syndrome 6?0016237	https://raresource.nih.gov/literature/gene/ERAL1	26284	ENSG00000132591	3424	https://pubmed.ncbi.nlm.nih.gov/?term=ERAL1	None	None	2977	399
ERBB2	erb-b2 receptor tyrosine kinase 2	Glioma?0006513;Gastric cancer?0007704;Extramammary Paget disease?0004192;Aganglionic megacolon?0006660	https://raresource.nih.gov/literature/gene/ERBB2	2064	ENSG00000141736	3430	https://pubmed.ncbi.nlm.nih.gov/?term=ERBB2	None	None	22129	58037
ERBB3	erb-b2 receptor tyrosine kinase 3	Lethal congenital contracture syndrome 2?0009177;Visceral neuropathy, familial, 1, autosomal recessive?0003928;Aganglionic megacolon?0006660	https://raresource.nih.gov/literature/gene/ERBB3	2065	ENSG00000065361	3431	https://pubmed.ncbi.nlm.nih.gov/?term=ERBB3	None	None	12499	3911
ERBB4	erb-b2 receptor tyrosine kinase 4	Autosomal dominant non-syndromic intellectual disability?0012107;Amyotrophic lateral sclerosis type 19?0015980;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/ERBB4	2066	ENSG00000178568	3432	https://pubmed.ncbi.nlm.nih.gov/?term=ERBB4	None	None	552003	2587
ERBIN	erbb2 interacting protein	Autosomal dominant combined immunodeficiency due to ERBIN deficiency?0026939	https://raresource.nih.gov/literature/gene/ERBIN	55914	ENSG00000112851	15842	https://pubmed.ncbi.nlm.nih.gov/?term=ERBIN	None	None	60370	416
ERCC1	ERCC excision repair 1, endonuclease non-catalytic subunit	COFS syndrome?0006027;Cerebrooculofacioskeletal syndrome 4?0015498	https://raresource.nih.gov/literature/gene/ERCC1	2067	ENSG00000012061	3433	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC1	None	None	24963	2699
ERCC2	ERCC excision repair 2, TFIIH core complex helicase subunit	Trichothiodystrophy 1, photosensitive?0005270;Trichothiodystrophy?0012109;Xeroderma pigmentosum?0007910;Xeroderma pigmentosum-Cockayne syndrome complex?0017130;Cerebrooculofacioskeletal syndrome 2?0015497;Xeroderma pigmentosum, group D?0016452;COFS syndrome?0006027	https://raresource.nih.gov/literature/gene/ERCC2	2068	ENSG00000104884	3434	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC2	None	None	10162	2537
ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	Trichothiodystrophy?0012109;Xeroderma pigmentosum?0007910;Xeroderma pigmentosum-Cockayne syndrome complex?0017130;Trichothiodystrophy 2, photosensitive?0016100;Xeroderma pigmentosum group B?0005625	https://raresource.nih.gov/literature/gene/ERCC3	2071	ENSG00000163161	3435	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC3	None	None	17400	1281
ERCC4	ERCC excision repair 4, endonuclease catalytic subunit	Xeroderma pigmentosum?0007910;Xeroderma pigmentosum-Cockayne syndrome complex?0017130;Fanconi anemia?0006425;XFE progeroid syndrome?0027518;Fanconi anemia complementation group Q?0015934;Xeroderma pigmentosum, group F?0005628	https://raresource.nih.gov/literature/gene/ERCC4	2072	ENSG00000175595	3436	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC4	None	None	12124	1445
ERCC5	ERCC excision repair 5, endonuclease	Xeroderma pigmentosum?0007910;Xeroderma pigmentosum-Cockayne syndrome complex?0017130;Xeroderma pigmentosum, group G?0005629;Cerebrooculofacioskeletal syndrome 3?0016140;COFS syndrome?0006027	https://raresource.nih.gov/literature/gene/ERCC5	2073	ENSG00000134899	3437	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC5	None	None	8329	803
ERCC6	ERCC excision repair 6, chromatin remodeling factor	UV-sensitive syndrome 1?0015320;Premature ovarian failure 11?0025024;DE SANCTIS-CACCHIONE SYNDROME?0008276;COFS syndrome?0006027;Cockayne syndrome type 3?0001417;Cockayne syndrome type 2?0001420;Cerebrooculofacioskeletal syndrome 1?0015150;UV-sensitive syndrome?0010947	https://raresource.nih.gov/literature/gene/ERCC6	2074	ENSG00000225830	3438	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC6	None	None	37934	727
ERCC6L2	ERCC excision repair 6 like 2	Inherited acute myeloid leukemia?0017450;Pancytopenia-developmental delay syndrome?0017655	https://raresource.nih.gov/literature/gene/ERCC6L2	375748	ENSG00000182150	26922	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC6L2	None	None	90898	39
ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	Cockayne syndrome type 3?0001417;UV-sensitive syndrome 2?0015827;UV-sensitive syndrome?0010947;Cockayne syndrome type 1?0001415	https://raresource.nih.gov/literature/gene/ERCC8	1161	ENSG00000049167	3439	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC8	None	None	29233	724
ERF	ETS2 repressor factor	Craniosynostosis 4?0024762;Craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome?0026847	https://raresource.nih.gov/literature/gene/ERF	2077	ENSG00000105722	3444	https://pubmed.ncbi.nlm.nih.gov/?term=ERF	None	None	4541	2613
ERG	ETS transcription factor ERG	Lymphatic malformation 14?0026897	https://raresource.nih.gov/literature/gene/ERG	2078	ENSG00000157554	3446	https://pubmed.ncbi.nlm.nih.gov/?term=ERG	None	None	89369	4707
ERGIC1	endoplasmic reticulum-golgi intermediate compartment 1	Arthrogryposis multiplex congenita 2, neurogenic type?0000790	https://raresource.nih.gov/literature/gene/ERGIC1	57222	ENSG00000113719	29205	https://pubmed.ncbi.nlm.nih.gov/?term=ERGIC1	None	None	46888	18
ERI1	exoribonuclease 1	Spondyloepimetaphyseal dysplasia, Guo-Campeau type?0026907	https://raresource.nih.gov/literature/gene/ERI1	90459	ENSG00000104626	23994	https://pubmed.ncbi.nlm.nih.gov/?term=ERI1	None	None	53315	67
ERLIN1	ER lipid raft associated 1	Hereditary spastic paraplegia 62?0017657	https://raresource.nih.gov/literature/gene/ERLIN1	10613	ENSG00000107566	16947	https://pubmed.ncbi.nlm.nih.gov/?term=ERLIN1	None	None	13242	58
ERLIN2	ER lipid raft associated 2	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome?0021083;Hereditary spastic paraplegia 18?0004922;Spastic paraplegia 18a, autosomal dominant?0026873	https://raresource.nih.gov/literature/gene/ERLIN2	11160	ENSG00000147475	1356	https://pubmed.ncbi.nlm.nih.gov/?term=ERLIN2	None	None	9231	93
ERMARD	ER membrane associated RNA degradation	Periventricular nodular heterotopia 6?0015983;Periventricular nodular heterotopia?0012724	https://raresource.nih.gov/literature/gene/ERMARD	55780	ENSG00000130023	21056	https://pubmed.ncbi.nlm.nih.gov/?term=ERMARD	None	None	12195	8
ESCO2	establishment of sister chromatid cohesion N-acetyltransferase 2	Juberg-Hayward syndrome?0003060;Roberts-SC phocomelia syndrome?0007387	https://raresource.nih.gov/literature/gene/ESCO2	157570	ENSG00000171320	27230	https://pubmed.ncbi.nlm.nih.gov/?term=ESCO2	None	None	17858	215
ESPN	espin	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 36?0022611;Usher syndrome, type 1M?0016370	https://raresource.nih.gov/literature/gene/ESPN	83715	ENSG00000187017	13281	https://pubmed.ncbi.nlm.nih.gov/?term=ESPN	None	None	15518	114
ESR1	estrogen receptor 1	Familial cancer of breast?0017142;Estrogen resistance syndrome?0016548	https://raresource.nih.gov/literature/gene/ESR1	2099	ENSG00000091831	3467	https://pubmed.ncbi.nlm.nih.gov/?term=ESR1	None	None	184754	62790
ESR2	estrogen receptor 2	Ovarian dysgenesis 8?0025708	https://raresource.nih.gov/literature/gene/ESR2	2100	ENSG00000140009	3468	https://pubmed.ncbi.nlm.nih.gov/?term=ESR2	None	None	40992	4384
ESRP1	epithelial splicing regulatory protein 1	Hearing loss, autosomal recessive 109?0025789	https://raresource.nih.gov/literature/gene/ESRP1	54845	ENSG00000104413	25966	https://pubmed.ncbi.nlm.nih.gov/?term=ESRP1	None	None	26736	227
ESRRB	estrogen related receptor beta	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 35?0022609	https://raresource.nih.gov/literature/gene/ESRRB	2103	ENSG00000119715	3473	https://pubmed.ncbi.nlm.nih.gov/?term=ESRRB	None	None	48993	991
ETFA	electron transfer flavoprotein subunit alpha	Multiple acyl-CoA dehydrogenase deficiency, mild type?0017627;Glutaric acidemia IIa?0026345;Multiple acyl-CoA dehydrogenase deficiency?0006523;Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type?0017626	https://raresource.nih.gov/literature/gene/ETFA	2108	ENSG00000140374	3481	https://pubmed.ncbi.nlm.nih.gov/?term=ETFA	None	None	33300	3938
ETFB	electron transfer flavoprotein subunit beta	Multiple acyl-CoA dehydrogenase deficiency, mild type?0017627;Multiple acyl-CoA dehydrogenase deficiency?0006523;Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type?0017626;Glutaric acidemia IIb?0026346	https://raresource.nih.gov/literature/gene/ETFB	2109	ENSG00000105379	3482	https://pubmed.ncbi.nlm.nih.gov/?term=ETFB	None	None	8388	258
ETFDH	electron transfer flavoprotein dehydrogenase	Multiple acyl-CoA dehydrogenase deficiency, mild type?0017627;Multiple acyl-CoA dehydrogenase deficiency?0006523;Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type?0017626;Glutaric acidemia IIc?0026348	https://raresource.nih.gov/literature/gene/ETFDH	2110	ENSG00000171503	3483	https://pubmed.ncbi.nlm.nih.gov/?term=ETFDH	None	None	13922	466
ETHE1	ETHE1 persulfide dioxygenase	Ethylmalonic encephalopathy?0002198	https://raresource.nih.gov/literature/gene/ETHE1	23474	ENSG00000105755	23287	https://pubmed.ncbi.nlm.nih.gov/?term=ETHE1	None	None	7207	119
ETV6	ETS variant transcription factor 6	Acute myeloid leukemia?0012757;Thrombocytopenia 5?0025000	https://raresource.nih.gov/literature/gene/ETV6	2120	ENSG00000139083	3495	https://pubmed.ncbi.nlm.nih.gov/?term=ETV6	None	None	64679	2740
EVC	EvC ciliary complex subunit 1	Ellis-van Creveld syndrome?0001301	https://raresource.nih.gov/literature/gene/EVC	2121	ENSG00000072840	3497	https://pubmed.ncbi.nlm.nih.gov/?term=EVC	None	None	49959	121
EVC2	EvC ciliary complex subunit 2	Ellis-van Creveld syndrome?0001301;Curry-Hall syndrome?0000497	https://raresource.nih.gov/literature/gene/EVC2	132884	ENSG00000173040	19747	https://pubmed.ncbi.nlm.nih.gov/?term=EVC2	None	None	72754	123
EWSR1	EWS RNA binding protein 1	Ewing sarcoma?0006390	https://raresource.nih.gov/literature/gene/EWSR1	2130	ENSG00000182944	3508	https://pubmed.ncbi.nlm.nih.gov/?term=EWSR1	None	None	10582	3134
EXOC2	exocyst complex component 2	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia?0018545	https://raresource.nih.gov/literature/gene/EXOC2	55770	ENSG00000112685	24968	https://pubmed.ncbi.nlm.nih.gov/?term=EXOC2	None	None	82390	139
EXOC6B	exocyst complex component 6B	Spondyloepimetaphyseal dysplasia with joint laxity, type 3?0016348	https://raresource.nih.gov/literature/gene/EXOC6B	23233	ENSG00000144036	17085	https://pubmed.ncbi.nlm.nih.gov/?term=EXOC6B	None	None	224338	31
EXOC7	exocyst complex component 7	Neurodevelopmental disorder with seizures and brain atrophy?0018531	https://raresource.nih.gov/literature/gene/EXOC7	23265	ENSG00000182473	23214	https://pubmed.ncbi.nlm.nih.gov/?term=EXOC7	None	None	8940	221
EXOC8	exocyst complex component 8	Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy?0018532	https://raresource.nih.gov/literature/gene/EXOC8	149371	ENSG00000116903	24659	https://pubmed.ncbi.nlm.nih.gov/?term=EXOC8	None	None	3079	78
EXOSC1	exosome component 1	Pontocerebellar hypoplasia, type 1F?0016442	https://raresource.nih.gov/literature/gene/EXOSC1	51013	ENSG00000171311	17286	https://pubmed.ncbi.nlm.nih.gov/?term=EXOSC1	None	None	4290	261
EXOSC2	exosome component 2	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome?0017903	https://raresource.nih.gov/literature/gene/EXOSC2	23404	ENSG00000130713	17097	https://pubmed.ncbi.nlm.nih.gov/?term=EXOSC2	None	None	5337	573
EXOSC3	exosome component 3	Congenital pontocerebellar hypoplasia type 1?0010704;Pontocerebellar hypoplasia type 1B?0015834	https://raresource.nih.gov/literature/gene/EXOSC3	51010	ENSG00000107371	17944	https://pubmed.ncbi.nlm.nih.gov/?term=EXOSC3	None	None	3284	708
EXOSC5	exosome component 5	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects?0026666	https://raresource.nih.gov/literature/gene/EXOSC5	56915	ENSG00000077348	24662	https://pubmed.ncbi.nlm.nih.gov/?term=EXOSC5	None	None	419	46
EXOSC8	exosome component 8	Congenital pontocerebellar hypoplasia type 1?0010704;Pontocerebellar hypoplasia, type 1C?0016058	https://raresource.nih.gov/literature/gene/EXOSC8	11340	ENSG00000120699	17035	https://pubmed.ncbi.nlm.nih.gov/?term=EXOSC8	None	None	2225	206
EXOSC9	exosome component 9	Congenital pontocerebellar hypoplasia type 1?0010704;Pontocerebellar hypoplasia, type 1D?0016289	https://raresource.nih.gov/literature/gene/EXOSC9	5393	ENSG00000123737	9137	https://pubmed.ncbi.nlm.nih.gov/?term=EXOSC9	None	None	6668	1104
EXPH5	exophilin 5	Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive?0017691	https://raresource.nih.gov/literature/gene/EXPH5	23086	ENSG00000110723	30578	https://pubmed.ncbi.nlm.nih.gov/?term=EXPH5	None	None	23946	42
EXT1	exostosin glycosyltransferase 1	Chondrosarcoma?0006055;Exostoses, multiple, type 1?0002204;Multiple congenital exostosis?0007035	https://raresource.nih.gov/literature/gene/EXT1	2131	ENSG00000182197	3512	https://pubmed.ncbi.nlm.nih.gov/?term=EXT1	None	None	138045	765
EXT2	exostosin glycosyltransferase 2	Seizures-scoliosis-macrocephaly syndrome?0017836;Exostoses, multiple, type 2?0002205;Multiple congenital exostosis?0007035	https://raresource.nih.gov/literature/gene/EXT2	2132	ENSG00000151348	3513	https://pubmed.ncbi.nlm.nih.gov/?term=EXT2	None	None	59073	441
EXTL3	exostosin like glycosyltransferase 3	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome?0022070;Immunoskeletal dysplasia with neurodevelopmental abnormalities?0025889	https://raresource.nih.gov/literature/gene/EXTL3	2137	ENSG00000012232	3518	https://pubmed.ncbi.nlm.nih.gov/?term=EXTL3	None	None	60351	35
EYA1	EYA transcriptional coactivator and phosphatase 1	Branchiootic syndrome 1?0024783;Branchiootorenal syndrome 1?0024535;Otofaciocervical syndrome 1?0016502;Otofaciocervical syndrome?0004169;Melnick-Fraser syndrome?0010147;Branchiootic syndrome?0010148	https://raresource.nih.gov/literature/gene/EYA1	2138	ENSG00000104313	3519	https://pubmed.ncbi.nlm.nih.gov/?term=EYA1	None	None	132862	583
EYA4	EYA transcriptional coactivator and phosphatase 4	Autosomal dominant nonsyndromic hearing loss 10?0018103;Dilated cardiomyopathy 1J?0017128;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/EYA4	2070	ENSG00000112319	3522	https://pubmed.ncbi.nlm.nih.gov/?term=EYA4	None	None	107475	163
EYS	eyes shut homolog	EYS-related retinopathy?0026541;Retinitis pigmentosa 25?0010384	https://raresource.nih.gov/literature/gene/EYS	346007	ENSG00000188107	21555	https://pubmed.ncbi.nlm.nih.gov/?term=EYS	None	None	816328	219
EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	Weaver syndrome?0007878	https://raresource.nih.gov/literature/gene/EZH2	2146	ENSG00000106462	3527	https://pubmed.ncbi.nlm.nih.gov/?term=EZH2	None	None	39617	9
EZR	ezrin	Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/EZR	7430	ENSG00000092820	12691	https://pubmed.ncbi.nlm.nih.gov/?term=EZR	None	None	24921	3006
F10	coagulation factor X	Hereditary factor X deficiency disease?0006404	https://raresource.nih.gov/literature/gene/F10	2159	ENSG00000126218	3528	https://pubmed.ncbi.nlm.nih.gov/?term=F10	None	None	9033	11799
F11	coagulation factor XI	Hereditary factor XI deficiency disease?0009670	https://raresource.nih.gov/literature/gene/F11	2160	ENSG00000088926	3529	https://pubmed.ncbi.nlm.nih.gov/?term=F11	None	None	10738	2061
F12	coagulation factor XII	Factor XII deficiency disease?0006558;Hereditary angioedema type 3?0016935;F12-associated cold autoinflammatory syndrome?0022454	https://raresource.nih.gov/literature/gene/F12	2161	ENSG00000131187	3530	https://pubmed.ncbi.nlm.nih.gov/?term=F12	None	None	4404	1238
F13A1	coagulation factor XIII A chain	Factor XIII, A subunit, deficiency of?0015633;Hereditary factor XIII deficiency disease?0010766;Thrombophilia due to thrombin defect?0010815	https://raresource.nih.gov/literature/gene/F13A1	2162	ENSG00000124491	3531	https://pubmed.ncbi.nlm.nih.gov/?term=F13A1	None	None	69814	2438
F13B	coagulation factor XIII B chain	Factor XIII, b subunit, deficiency of?0015635;Hereditary factor XIII deficiency disease?0010766	https://raresource.nih.gov/literature/gene/F13B	2165	ENSG00000143278	3534	https://pubmed.ncbi.nlm.nih.gov/?term=F13B	None	None	12041	1058
F2	coagulation factor II, thrombin	Congenital prothrombin deficiency?0002926;Thrombophilia due to thrombin defect?0010815	https://raresource.nih.gov/literature/gene/F2	2147	ENSG00000180210	3535	https://pubmed.ncbi.nlm.nih.gov/?term=F2	None	None	9945	2
F5	coagulation factor V	East Texas bleeding disorder?0017613;Thrombophilia due to activated protein C resistance?0024631;Factor V amsterdam bleeding disorder?0022414;Budd-Chiari syndrome?0005968;Congenital factor V deficiency?0002237;Factor V atlanta bleeding disorder?0022415	https://raresource.nih.gov/literature/gene/F5	2153	ENSG00000198734	3542	https://pubmed.ncbi.nlm.nih.gov/?term=F5	None	None	29190	41
F7	coagulation factor VII	Congenital factor VII deficiency?0002238	https://raresource.nih.gov/literature/gene/F7	2155	ENSG00000057593	3544	https://pubmed.ncbi.nlm.nih.gov/?term=F7	None	None	7512	960
F8	coagulation factor VIII	Hereditary factor VIII deficiency disease?0006591;Mild hemophilia A?0017061;Symptomatic form of hemophilia A in female carriers?0017076;Severe hemophilia A?0017059;Thrombophilia, X-linked, due to factor 8 defect?0026654;Moderately severe hemophilia A?0017060	https://raresource.nih.gov/literature/gene/F8	2157	ENSG00000185010	3546	https://pubmed.ncbi.nlm.nih.gov/?term=F8	None	None	29629	7899
F9	coagulation factor IX	Thrombophilia, X-linked, due to factor 9 defect?0024725;Severe hemophilia B?0017056;Mild hemophilia B?0017058;Hereditary factor IX deficiency disease?0008732;Moderately severe hemophilia B?0017057;Symptomatic form of hemophilia B in female carriers?0017077	https://raresource.nih.gov/literature/gene/F9	2158	ENSG00000101981	3551	https://pubmed.ncbi.nlm.nih.gov/?term=F9	None	None	6019	5551
FA2H	fatty acid 2-hydroxylase	Fatty acid hydroxylase-associated neurodegeneration?0010810;Hereditary spastic paraplegia 35?0010538	https://raresource.nih.gov/literature/gene/FA2H	79152	ENSG00000103089	21197	https://pubmed.ncbi.nlm.nih.gov/?term=FA2H	None	None	19840	2277
FADD	Fas associated via death domain	FADD-related immunodeficiency?0015004	https://raresource.nih.gov/literature/gene/FADD	8772	ENSG00000168040	3573	https://pubmed.ncbi.nlm.nih.gov/?term=FADD	None	None	3369	2740
FAH	fumarylacetoacetate hydrolase	Tyrosinemia type I?0002658	https://raresource.nih.gov/literature/gene/FAH	2184	ENSG00000103876	3579	https://pubmed.ncbi.nlm.nih.gov/?term=FAH	None	None	12257	629
FAM111A	FAM111 trypsin like peptidase A	Autosomal dominant Kenny-Caffey syndrome?0000083;Osteocraniostenosis?0003396	https://raresource.nih.gov/literature/gene/FAM111A	63901	ENSG00000166801	24725	https://pubmed.ncbi.nlm.nih.gov/?term=FAM111A	None	None	5410	88
FAM111B	FAM111 trypsin like peptidase B	Hereditary sclerosing poikiloderma with tendon and pulmonary involvement?0013218	https://raresource.nih.gov/literature/gene/FAM111B	374393	ENSG00000189057	24200	https://pubmed.ncbi.nlm.nih.gov/?term=FAM111B	None	None	8500	245
FAM149B1	family with sequence similarity 149 member B1	Joubert syndrome 36?0016376	https://raresource.nih.gov/literature/gene/FAM149B1	317662	ENSG00000138286	29162	https://pubmed.ncbi.nlm.nih.gov/?term=FAM149B1	None	None	25430	6
FAM161A	FAM161 centrosomal protein A	Retinitis pigmentosa 28?0010394	https://raresource.nih.gov/literature/gene/FAM161A	84140	ENSG00000170264	25808	https://pubmed.ncbi.nlm.nih.gov/?term=FAM161A	None	None	14469	76
FAM20A	FAM20A golgi associated secretory pathway pseudokinase	Amelogenesis imperfecta type 1G?0000646	https://raresource.nih.gov/literature/gene/FAM20A	54757	ENSG00000108950	23015	https://pubmed.ncbi.nlm.nih.gov/?term=FAM20A	None	None	20784	93
FAM20B	FAM20B glycosaminoglycan xylosylkinase	FAM20B-congenital disorder of glycosylation?0027282	https://raresource.nih.gov/literature/gene/FAM20B	9917	ENSG00000116199	23017	https://pubmed.ncbi.nlm.nih.gov/?term=FAM20B	None	None	8904	42
FAM20C	FAM20C golgi associated secretory pathway kinase	Lethal osteosclerotic bone dysplasia?0000282	https://raresource.nih.gov/literature/gene/FAM20C	56975	ENSG00000177706	22140	https://pubmed.ncbi.nlm.nih.gov/?term=FAM20C	None	None	34859	341
FAM50A	family with sequence similarity 50 member A	Armfield syndrome?0016742	https://raresource.nih.gov/literature/gene/FAM50A	9130	ENSG00000071859	18786	https://pubmed.ncbi.nlm.nih.gov/?term=FAM50A	None	None	2221	34
FAM83H	family with sequence similarity 83 member H	Amelogenesis imperfecta, hypocalcification type?0016931;Amelogenesis imperfecta, type 3A?0024562	https://raresource.nih.gov/literature/gene/FAM83H	286077	ENSG00000180921	24797	https://pubmed.ncbi.nlm.nih.gov/?term=FAM83H	None	None	7394	156
FAN1	FANCD2 and FANCI associated nuclease 1	Karyomegalic interstitial nephritis?0011003	https://raresource.nih.gov/literature/gene/FAN1	22909	ENSG00000198690	29170	https://pubmed.ncbi.nlm.nih.gov/?term=FAN1	None	None	16397	161
FANCA	FA complementation group A	Fanconi anemia complementation group A?0015170;Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/FANCA	2175	ENSG00000187741	3582	https://pubmed.ncbi.nlm.nih.gov/?term=FANCA	None	None	48805	1928
FANCB	FA complementation group B	Fanconi anemia complementation group A?0015170;VACTERL with hydrocephalus?0000272;Fanconi anemia?0006425;Fanconi anemia complementation group B?0015257	https://raresource.nih.gov/literature/gene/FANCB	2187	ENSG00000181544	3583	https://pubmed.ncbi.nlm.nih.gov/?term=FANCB	None	None	6703	2963
FANCC	FA complementation group C	Fanconi anemia complementation group A?0015170;Fanconi anemia?0006425;Fanconi anemia complementation group C?0015168	https://raresource.nih.gov/literature/gene/FANCC	2176	ENSG00000158169	3584	https://pubmed.ncbi.nlm.nih.gov/?term=FANCC	None	None	134406	555
FANCD2	FA complementation group D2	Fanconi anemia?0006425;Fanconi anemia complementation group D2?0015169	https://raresource.nih.gov/literature/gene/FANCD2	2177	ENSG00000144554	3585	https://pubmed.ncbi.nlm.nih.gov/?term=FANCD2	None	None	42485	1911
FANCE	FA complementation group E	Fanconi anemia complementation group A?0015170;Fanconi anemia?0006425;Fanconi anemia complementation group E?0015324	https://raresource.nih.gov/literature/gene/FANCE	2178	ENSG00000112039	3586	https://pubmed.ncbi.nlm.nih.gov/?term=FANCE	None	None	7200	291
FANCF	FA complementation group F	Fanconi anemia complementation group F?0015355;Fanconi anemia?0006425;Fanconi anemia complementation group A?0015170	https://raresource.nih.gov/literature/gene/FANCF	2188	ENSG00000183161	3587	https://pubmed.ncbi.nlm.nih.gov/?term=FANCF	None	None	2601	233
FANCG	FA complementation group G	Fanconi anemia complementation group A?0015170;Fanconi anemia?0006425;Fanconi anemia complementation group G?0015753	https://raresource.nih.gov/literature/gene/FANCG	2189	ENSG00000221829	3588	https://pubmed.ncbi.nlm.nih.gov/?term=FANCG	None	None	4108	300
FANCI	FA complementation group I	Fanconi anemia?0006425;Fanconi anemia complementation group I?0015448	https://raresource.nih.gov/literature/gene/FANCI	55215	ENSG00000140525	25568	https://pubmed.ncbi.nlm.nih.gov/?term=FANCI	None	None	29392	360
FANCL	FA complementation group L	Fanconi anemia?0006425;Fanconi anemia complementation group L?0015754	https://raresource.nih.gov/literature/gene/FANCL	55120	ENSG00000115392	20748	https://pubmed.ncbi.nlm.nih.gov/?term=FANCL	None	None	46511	196
FANCM	FA complementation group M	Premature ovarian failure 15?0025989;Spermatogenic failure 28?0016290;Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/FANCM	57697	ENSG00000187790	23168	https://pubmed.ncbi.nlm.nih.gov/?term=FANCM	None	None	25024	369
FAR1	fatty acyl-CoA reductase 1	Fatty acyl-CoA reductase defects?0026117;Spastic paraparesis-cataracts-speech delay syndrome?0018033;Fatty acyl-CoA reductase 1 deficiency?0013319	https://raresource.nih.gov/literature/gene/FAR1	84188	ENSG00000197601	26222	https://pubmed.ncbi.nlm.nih.gov/?term=FAR1	None	None	24084	284
FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	Combined oxidative phosphorylation defect type 14?0017455;Hereditary spastic paraplegia 77?0017827	https://raresource.nih.gov/literature/gene/FARS2	10667	ENSG00000145982	21062	https://pubmed.ncbi.nlm.nih.gov/?term=FARS2	None	None	207304	162
FARSA	phenylalanyl-tRNA synthetase subunit alpha	Rajab interstitial lung disease with brain calcifications 2?0018298	https://raresource.nih.gov/literature/gene/FARSA	2193	ENSG00000179115	3592	https://pubmed.ncbi.nlm.nih.gov/?term=FARSA	None	None	5868	137
FARSB	phenylalanyl-tRNA synthetase subunit beta	Rajab interstitial lung disease with brain calcifications 1?0018297	https://raresource.nih.gov/literature/gene/FARSB	10056	ENSG00000116120	17800	https://pubmed.ncbi.nlm.nih.gov/?term=FARSB	None	None	30736	141
FAS	Fas cell surface death receptor	Autoimmune lymphoproliferative syndrome type 1?0024776;Autoimmune lymphoproliferative syndrome?0008686	https://raresource.nih.gov/literature/gene/FAS	355	ENSG00000026103	11920	https://pubmed.ncbi.nlm.nih.gov/?term=FAS	None	None	12315	29263
FASLG	Fas ligand	Autoimmune lymphoproliferative syndrome type 1?0024776;Autoimmune lymphoproliferative syndrome?0008686	https://raresource.nih.gov/literature/gene/FASLG	356	ENSG00000117560	11936	https://pubmed.ncbi.nlm.nih.gov/?term=FASLG	None	None	4765	11479
FASTKD2	FAST kinase domains 2	FASTKD2-related infantile mitochondrial encephalomyopathy?0017026;Combined oxidative phosphorylation deficiency 44?0025511	https://raresource.nih.gov/literature/gene/FASTKD2	22868	ENSG00000118246	29160	https://pubmed.ncbi.nlm.nih.gov/?term=FASTKD2	None	None	12058	39
FAT2	FAT atypical cadherin 2	Spinocerebellar ataxia 45?0022353	https://raresource.nih.gov/literature/gene/FAT2	2196	ENSG00000086570	3596	https://pubmed.ncbi.nlm.nih.gov/?term=FAT2	None	None	26817	101
FAT4	FAT atypical cadherin 4	Hennekam lymphangiectasia-lymphedema syndrome 2?0016047;Van Maldergem syndrome?0005456;Van Maldergem syndrome 2?0015984;Hennekam lymphangiectasia-lymphedema syndrome?0003318	https://raresource.nih.gov/literature/gene/FAT4	79633	ENSG00000196159	23109	https://pubmed.ncbi.nlm.nih.gov/?term=FAT4	None	None	68197	243
FBLN1	fibulin 1	Synpolydactyly type 2?0017359;FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome?0021717	https://raresource.nih.gov/literature/gene/FBLN1	2192	ENSG00000077942	3600	https://pubmed.ncbi.nlm.nih.gov/?term=FBLN1	None	None	28432	406
FBLN5	fibulin 5	Autosomal recessive cutis laxa type 1?0008480;Hereditary sensorimotor neuropathy with hyperelastic skin?0011010;Cutis laxa, autosomal dominant?0001639;Cutis laxa, autosomal dominant 2?0015802;Cutis laxa, autosomal recessive, type 1A?0015157;Macular degeneration, age-related, 3?0024848;Charcot-Marie-Tooth disease, demyelinating, IIA 1H?0025612	https://raresource.nih.gov/literature/gene/FBLN5	10516	ENSG00000140092	3602	https://pubmed.ncbi.nlm.nih.gov/?term=FBLN5	None	None	20582	445
FBN1	fibrillin 1	Geleophysic dysplasia 2?0015768;Weill-Marchesani syndrome?0004936;Weill-Marchesani syndrome 2, dominant?0002452;Geleophysic dysplasia?0002449;Neonatal Marfan syndrome?0021128;Tetralogy of Fallot?0002245;Acromicric dysplasia?0000007;Familial thoracic aortic aneurysm and aortic dissection?0002249;MASS syndrome?0008489;Ehlers-Danlos syndrome, type 4?0002082;Stiff skin syndrome?0005025;Isolated ectopia lentis?0012251;Progeroid and marfanoid aspect-lipodystrophy syndrome?0017371;Marfan syndrome?0016535;Ectopia lentis 1, isolated, autosomal dominant?0015062	https://raresource.nih.gov/literature/gene/FBN1	2200	ENSG00000166147	3603	https://pubmed.ncbi.nlm.nih.gov/?term=FBN1	None	None	60220	2799
FBN2	fibrillin 2	Macular degeneration, early-onset?0024995;Ehlers-Danlos syndrome, type 4?0002082;Tetralogy of Fallot?0002245;Congenital contractural arachnodactyly?0005899	https://raresource.nih.gov/literature/gene/FBN2	2201	ENSG00000138829	3604	https://pubmed.ncbi.nlm.nih.gov/?term=FBN2	None	None	152132	619
FBP1	fructose-bisphosphatase 1	Fructose-biphosphatase deficiency?0002400	https://raresource.nih.gov/literature/gene/FBP1	2203	ENSG00000165140	3606	https://pubmed.ncbi.nlm.nih.gov/?term=FBP1	None	None	16535	1171
FBP2	fructose-bisphosphatase 2	Leukodystrophy, childhood-onset, remitting?0026680	https://raresource.nih.gov/literature/gene/FBP2	8789	ENSG00000130957	3607	https://pubmed.ncbi.nlm.nih.gov/?term=FBP2	None	None	14272	233
FBXL4	F-box and leucine rich repeat protein 4	Mitochondrial DNA depletion syndrome 13?0013298	https://raresource.nih.gov/literature/gene/FBXL4	26235	ENSG00000112234	13601	https://pubmed.ncbi.nlm.nih.gov/?term=FBXL4	None	None	31092	92
FBXO28	F-box protein 28	Undetermined early-onset epileptic encephalopathy?0015028;Developmental and epileptic encephalopathy 100?0025614	https://raresource.nih.gov/literature/gene/FBXO28	23219	ENSG00000143756	29046	https://pubmed.ncbi.nlm.nih.gov/?term=FBXO28	None	None	19663	36
FBXO31	F-box protein 31	Intellectual disability, autosomal recessive 45?0022567;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/FBXO31	79791	ENSG00000103264	16510	https://pubmed.ncbi.nlm.nih.gov/?term=FBXO31	None	None	20570	69
FBXO38	F-box protein 38	Distal hereditary motor neuropathy type 2?0016954;Neuronopathy, distal hereditary motor, type 2D?0018265	https://raresource.nih.gov/literature/gene/FBXO38	81545	ENSG00000145868	28844	https://pubmed.ncbi.nlm.nih.gov/?term=FBXO38	None	None	22675	57
FBXO7	F-box protein 7	Parkinsonian-pyramidal syndrome?0009175	https://raresource.nih.gov/literature/gene/FBXO7	25793	ENSG00000100225	13586	https://pubmed.ncbi.nlm.nih.gov/?term=FBXO7	None	None	7790	204
FBXW11	F-box and WD repeat domain containing 11	Neurodevelopmental, jaw, eye, and digital syndrome?0018523	https://raresource.nih.gov/literature/gene/FBXW11	23291	ENSG00000072803	13607	https://pubmed.ncbi.nlm.nih.gov/?term=FBXW11	None	None	55021	181
FCGR2A	Fc gamma receptor IIa	Malaria?0006961	https://raresource.nih.gov/literature/gene/FCGR2A	2212	ENSG00000143226	3616	https://pubmed.ncbi.nlm.nih.gov/?term=FCGR2A	None	None	3680	2120
FCGR2B	Fc gamma receptor IIb	Malaria?0006961	https://raresource.nih.gov/literature/gene/FCGR2B	2213	ENSG00000072694	3618	https://pubmed.ncbi.nlm.nih.gov/?term=FCGR2B	None	None	6956	1876
FCGR3A	Fc gamma receptor IIIa	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity?0017732	https://raresource.nih.gov/literature/gene/FCGR3A	2214	ENSG00000203747	3619	https://pubmed.ncbi.nlm.nih.gov/?term=FCGR3A	None	None	4481	8155
FCHO1	FCH and mu domain containing endocytic adaptor 1	Immunodeficiency 76?0025655	https://raresource.nih.gov/literature/gene/FCHO1	23149	ENSG00000130475	29002	https://pubmed.ncbi.nlm.nih.gov/?term=FCHO1	None	None	14372	44
FCN3	ficolin 3	Immunodeficiency due to ficolin3 deficiency?0017513	https://raresource.nih.gov/literature/gene/FCN3	8547	ENSG00000142748	3625	https://pubmed.ncbi.nlm.nih.gov/?term=FCN3	None	None	3123	859
FCSK	fucose kinase	Congenital disorder of glycosylation with defective fucosylation 2?0025247	https://raresource.nih.gov/literature/gene/FCSK	197258	ENSG00000157353	29500	https://pubmed.ncbi.nlm.nih.gov/?term=FCSK	None	None	8941	53
FDPS	farnesyl diphosphate synthase	Disseminated superficial actinic porokeratosis?0010983;Porokeratosis 9, multiple types?0016146	https://raresource.nih.gov/literature/gene/FDPS	2224	ENSG00000160752	3631	https://pubmed.ncbi.nlm.nih.gov/?term=FDPS	None	None	5156	1399
FDX2	ferredoxin 2	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy?0025221	https://raresource.nih.gov/literature/gene/FDX2	112812	ENSG00000267673	30546	https://pubmed.ncbi.nlm.nih.gov/?term=FDX2	None	None	2608	65
FDXR	ferredoxin reductase	Multiple mitochondrial dysfunctions syndrome 9b?0027208;Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome?0022231;Auditory neuropathy-optic atrophy syndrome?0017983	https://raresource.nih.gov/literature/gene/FDXR	2232	ENSG00000161513	3642	https://pubmed.ncbi.nlm.nih.gov/?term=FDXR	None	None	4995	21077
FECH	ferrochelatase	Autosomal erythropoietic protoporphyria?0004527;Protoporphyria, erythropoietic, 1?0024616	https://raresource.nih.gov/literature/gene/FECH	2235	ENSG00000066926	3647	https://pubmed.ncbi.nlm.nih.gov/?term=FECH	None	None	12031	1203
FERMT1	FERM domain containing kindlin 1	Kindler syndrome?0004391	https://raresource.nih.gov/literature/gene/FERMT1	55612	ENSG00000101311	15889	https://pubmed.ncbi.nlm.nih.gov/?term=FERMT1	None	None	14318	252
FERMT3	FERM domain containing kindlin 3	Leukocyte adhesion deficiency 3?0016915	https://raresource.nih.gov/literature/gene/FERMT3	83706	ENSG00000149781	23151	https://pubmed.ncbi.nlm.nih.gov/?term=FERMT3	None	None	8322	312
FERRY3	FERRY endosomal RAB5 effector complex subunit 3	Intellectual disability, autosomal recessive 66?0022579;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/FERRY3	57102	ENSG00000047621	1184	https://pubmed.ncbi.nlm.nih.gov/?term=FERRY3	None	None	None	11
FEZF1	FEZ family zinc finger 1	Hypogonadism with anosmia?0010771;Hypogonadotropic hypogonadism 22 with or without anosmia?0016050	https://raresource.nih.gov/literature/gene/FEZF1	389549	ENSG00000128610	22788	https://pubmed.ncbi.nlm.nih.gov/?term=FEZF1	None	None	3409	135
FGA	fibrinogen alpha chain	Congenital afibrinogenemia?0005761;Familial hypodysfibrinogenemia?0017202;Familial hypofibrinogenemia?0002887;Familial dysfibrinogenemia?0002004;AFib amyloidosis?0019226;Familial visceral amyloidosis, Ostertag type?0008282	https://raresource.nih.gov/literature/gene/FGA	2243	ENSG00000171560	3661	https://pubmed.ncbi.nlm.nih.gov/?term=FGA	None	None	5069	1016
FGB	fibrinogen beta chain	Familial hypofibrinogenemia?0002887;Congenital afibrinogenemia?0005761;Familial hypodysfibrinogenemia?0017202;Familial dysfibrinogenemia?0002004	https://raresource.nih.gov/literature/gene/FGB	2244	ENSG00000171564	3662	https://pubmed.ncbi.nlm.nih.gov/?term=FGB	None	None	4755	679
FGD1	FYVE, RhoGEF and PH domain containing 1	Aarskog syndrome?0024738;Faciodigitogenital syndrome?0004775	https://raresource.nih.gov/literature/gene/FGD1	2245	ENSG00000102302	3663	https://pubmed.ncbi.nlm.nih.gov/?term=FGD1	None	None	9888	195
FGD4	FYVE, RhoGEF and PH domain containing 4	Charcot-Marie-Tooth disease type 4H?0012442	https://raresource.nih.gov/literature/gene/FGD4	121512	ENSG00000139132	19125	https://pubmed.ncbi.nlm.nih.gov/?term=FGD4	None	None	67244	62
FGF10	fibroblast growth factor 10	Congenital absence of salivary gland?0016759;Congenital alveolar dysplasia due to FGF10?0026041;Acinar dysplasia caused by mutation in FGF10?0026298;Lacrimoauriculodentodigital syndrome 3?0026751;Levy-Hollister syndrome?0006848	https://raresource.nih.gov/literature/gene/FGF10	2255	ENSG00000070193	3666	https://pubmed.ncbi.nlm.nih.gov/?term=FGF10	None	None	36274	1410
FGF12	fibroblast growth factor 12	Developmental and epileptic encephalopathy, 47?0016206;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/FGF12	2257	ENSG00000114279	3668	https://pubmed.ncbi.nlm.nih.gov/?term=FGF12	None	None	237262	107
FGF13	fibroblast growth factor 13	Generalized epilepsy with febrile seizures plus?0018641;Intellectual developmental disorder, X-linked 110?0026656;Developmental and epileptic encephalopathy, 90?0015286	https://raresource.nih.gov/literature/gene/FGF13	2258	ENSG00000129682	3670	https://pubmed.ncbi.nlm.nih.gov/?term=FGF13	None	None	98877	4381
FGF14	fibroblast growth factor 14	Spinocerebellar ataxia type 27?0009963;Spinocerebellar ataxia 27B, late-onset?0026707;Spinocerebellar ataxia 27A?0009603	https://raresource.nih.gov/literature/gene/FGF14	2259	ENSG00000102466	3671	https://pubmed.ncbi.nlm.nih.gov/?term=FGF14	None	None	172380	310
FGF16	fibroblast growth factor 16	Syndactyly type 8?0003559	https://raresource.nih.gov/literature/gene/FGF16	8823	ENSG00000196468	3672	https://pubmed.ncbi.nlm.nih.gov/?term=FGF16	None	None	2288	112
FGF17	fibroblast growth factor 17	Hypogonadism with anosmia?0010771;Hypogonadotropic hypogonadism 20 with or without anosmia?0015932;Hypogonadotropic hypogonadism?0016533	https://raresource.nih.gov/literature/gene/FGF17	8822	ENSG00000158815	3673	https://pubmed.ncbi.nlm.nih.gov/?term=FGF17	None	None	4528	142
FGF20	fibroblast growth factor 20	Renal hypodysplasia/aplasia 2?0024984;Bilateral renal agenesis?0016579	https://raresource.nih.gov/literature/gene/FGF20	26281	ENSG00000078579	3677	https://pubmed.ncbi.nlm.nih.gov/?term=FGF20	None	None	6708	205
FGF23	fibroblast growth factor 23	Autosomal dominant hypophosphatemic rickets?0016781;Tumoral calcinosis, hyperphosphatemic, familial, 2?0016281;Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome?0010879	https://raresource.nih.gov/literature/gene/FGF23	8074	ENSG00000118972	3680	https://pubmed.ncbi.nlm.nih.gov/?term=FGF23	None	None	4063	5413
FGF3	fibroblast growth factor 3	Deafness with labyrinthine aplasia, microtia, and microdontia?0010707	https://raresource.nih.gov/literature/gene/FGF3	2248	ENSG00000186895	3681	https://pubmed.ncbi.nlm.nih.gov/?term=FGF3	None	None	6678	734
FGF5	fibroblast growth factor 5	Familial isolated trichomegaly?0013167	https://raresource.nih.gov/literature/gene/FGF5	2250	ENSG00000138675	3683	https://pubmed.ncbi.nlm.nih.gov/?term=FGF5	None	None	10409	422
FGF8	fibroblast growth factor 8	Lobar holoprosencephaly?0016830;Hypogonadotropic hypogonadism?0016533;Hypogonadotropic hypogonadism 6 with or without anosmia?0010774;Hypogonadism with anosmia?0010771;Microform holoprosencephaly?0017290;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/FGF8	2253	ENSG00000107831	3686	https://pubmed.ncbi.nlm.nih.gov/?term=FGF8	None	None	5097	1857
FGF9	fibroblast growth factor 9	Multiple synostosis syndrome?0003836;Multiple synostoses syndrome 3?0015597	https://raresource.nih.gov/literature/gene/FGF9	2254	ENSG00000102678	3687	https://pubmed.ncbi.nlm.nih.gov/?term=FGF9	None	None	9187	1070
FGFR1	fibroblast growth factor receptor 1	Encephalocraniocutaneous lipomatosis?0002108;Hypogonadotropic hypogonadism?0016533;Pfeiffer syndrome type 1?0016807;Hypogonadism with anosmia?0010771;FGFR1-related Pfeiffer syndrome?0027594;Pilomyxoid astrocytoma?0020710;Interfrontal craniofaciosynostosis?0016626;Hartsfield-Bixler-Demyer syndrome?0002725;Hypogonadotropic hypogonadism 2 with or without anosmia?0003070;Trigonocephaly 1?0018558;Jackson-Weiss syndrome?0006796;Hypodontia?0016908;Pfeiffer syndrome?0007380;Osteoglophonic dysplasia?0004142	https://raresource.nih.gov/literature/gene/FGFR1	2260	ENSG00000077782	3688	https://pubmed.ncbi.nlm.nih.gov/?term=FGFR1	None	None	28913	6751
FGFR2	fibroblast growth factor receptor 2	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis?0022389;Gastric cancer?0007704;Pfeiffer syndrome type 1?0016807;Acrocephalosyndactyly type I?0005833;Saethre-Chotzen syndrome?0007598;Levy-Hollister syndrome?0006848;Beare-Stevenson cutis gyrata syndrome?0000332;LADD syndrome 1?0026132;Bent bone dysplasia syndrome 1?0010965;Pfeiffer syndrome type 2?0016808;FGFR2-related Pfeiffer syndrome?0027595;Pfeiffer syndrome type 3?0016809;Familial scaphocephaly syndrome, McGillivray type?0003426;Jackson-Weiss syndrome?0006796;Acinar dysplasia caused by mutation in FGFR2?0026299;Crouzon syndrome?0006206;Pfeiffer syndrome?0007380	https://raresource.nih.gov/literature/gene/FGFR2	2263	ENSG00000066468	3689	https://pubmed.ncbi.nlm.nih.gov/?term=FGFR2	None	None	50807	4241
FGFR3	fibroblast growth factor receptor 3	Lacrimoauriculodentodigital syndrome 2?0026750;Achondroplasia?0008173;Epidermal nevus?0024601;Thanatophoric dysplasia type 1?0009295;Germ cell tumor of testis?0013047;Levy-Hollister syndrome?0006848;Hypochondroplasia?0006724;Muenke syndrome?0007097;Severe achondroplasia-developmental delay-acanthosis nigricans syndrome?0009443;Camptodactyly-tall stature-scoliosis-hearing loss syndrome?0010012;Crouzon syndrome-acanthosis nigricans syndrome?0016810;Thanatophoric dysplasia?0000085;Thanatophoric dysplasia, type 2?0001402	https://raresource.nih.gov/literature/gene/FGFR3	2261	ENSG00000068078	3690	https://pubmed.ncbi.nlm.nih.gov/?term=FGFR3	None	None	12150	4181
FGFRL1	fibroblast growth factor receptor like 1	4p partial monosomy syndrome?0007896	https://raresource.nih.gov/literature/gene/FGFRL1	53834	ENSG00000127418	3693	https://pubmed.ncbi.nlm.nih.gov/?term=FGFRL1	None	None	11174	133
FGG	fibrinogen gamma chain	Familial hypofibrinogenemia?0002887;Congenital afibrinogenemia?0005761;Familial hypodysfibrinogenemia?0017202;Familial dysfibrinogenemia?0002004	https://raresource.nih.gov/literature/gene/FGG	2266	ENSG00000171557	3694	https://pubmed.ncbi.nlm.nih.gov/?term=FGG	None	None	4576	672
FH	fumarate hydratase	Fumarase deficiency?0006476;Hereditary leiomyomatosis and renal cell cancer?0010096	https://raresource.nih.gov/literature/gene/FH	2271	ENSG00000091483	3700	https://pubmed.ncbi.nlm.nih.gov/?term=FH	None	None	11628	3310
FHL1	four and a half LIM domains 1	Reducing body myopathy?0012162;Myopathy, reducing body, X-linked, early-onset, severe?0015261;X-linked Emery-Dreifuss muscular dystrophy?0002102;X-linked myopathy with postural muscle atrophy?0017081;Uruguay Faciocardiomusculoskeletal syndrome?0024717;X-linked scapuloperoneal muscular dystrophy?0007608;Myopathy, reducing body, X-linked, childhood-onset?0015262;FHL1-related myopathy?0026563	https://raresource.nih.gov/literature/gene/FHL1	2273	ENSG00000022267	3702	https://pubmed.ncbi.nlm.nih.gov/?term=FHL1	None	None	11402	591
FHL2	four and a half LIM domains 2	Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/FHL2	2274	ENSG00000115641	3703	https://pubmed.ncbi.nlm.nih.gov/?term=FHL2	None	None	31473	504
FHOD3	formin homology 2 domain containing 3	Cardiomyopathy, familial hypertrophic, 28?0025536	https://raresource.nih.gov/literature/gene/FHOD3	80206	ENSG00000134775	26178	https://pubmed.ncbi.nlm.nih.gov/?term=FHOD3	None	None	109781	79
FIBP	FGF1 intracellular binding protein	Tall stature-intellectual disability-renal anomalies syndrome?0017921	https://raresource.nih.gov/literature/gene/FIBP	9158	ENSG00000172500	3705	https://pubmed.ncbi.nlm.nih.gov/?term=FIBP	None	None	2824	33
FICD	FIC domain protein adenylyltransferase	Spastic paraplegia 92, autosomal recessive?0027212	https://raresource.nih.gov/literature/gene/FICD	11153	ENSG00000198855	18416	https://pubmed.ncbi.nlm.nih.gov/?term=FICD	None	None	1966	107
FIG4	FIG4 phosphoinositide 5-phosphatase	Amyotrophic lateral sclerosis?0005786;Charcot-Marie-Tooth disease type 4J?0012443;Bilateral parasagittal parieto-occipital polymicrogyria?0010785;Amyotrophic lateral sclerosis type 11?0010496;Yunis-Varon syndrome?0000331	https://raresource.nih.gov/literature/gene/FIG4	9896	ENSG00000112367	16873	https://pubmed.ncbi.nlm.nih.gov/?term=FIG4	None	None	48323	241
FIGLA	folliculogenesis specific bHLH transcription factor	46 XX gonadal dysgenesis?0005671;Premature ovarian failure 6?0024891	https://raresource.nih.gov/literature/gene/FIGLA	344018	ENSG00000183733	24669	https://pubmed.ncbi.nlm.nih.gov/?term=FIGLA	None	None	6239	140
FILIP1	filamin A interacting protein 1	Neuromuscular disorder, congenital, with dysmorphic facies?0027012	https://raresource.nih.gov/literature/gene/FILIP1	27145	ENSG00000118407	21015	https://pubmed.ncbi.nlm.nih.gov/?term=FILIP1	None	None	66125	33
FKBP10	FKBP prolyl isomerase 10	Bruck syndrome?0001029;Bruck syndrome 1?0024696;Osteogenesis imperfecta type 11?0012875;Arthrogryposis-like syndrome?0003150	https://raresource.nih.gov/literature/gene/FKBP10	60681	ENSG00000141756	18169	https://pubmed.ncbi.nlm.nih.gov/?term=FKBP10	None	None	4454	1035
FKBP14	FKBP prolyl isomerase 14	Ehlers-Danlos syndrome, kyphoscoliotic type, 2?0017361;Ehlers-Danlos syndrome, type 4?0002082	https://raresource.nih.gov/literature/gene/FKBP14	55033	ENSG00000106080	18625	https://pubmed.ncbi.nlm.nih.gov/?term=FKBP14	None	None	6152	136
FKRP	fukutin related protein	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1?0024665;Congenital muscular dystrophy without intellectual disability?0027117;Walker-Warburg congenital muscular dystrophy?0002599;Autosomal recessive limb-girdle muscular dystrophy type 2I?0012533;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5?0015625;Myopathy caused by variation in FKRP?0026339;Muscle eye brain disease?0000156;Congenital muscular dystrophy with intellectual disability?0017606;Muscular dystrophy-dystroglycanopathy type B5?0024818	https://raresource.nih.gov/literature/gene/FKRP	79147	ENSG00000181027	17997	https://pubmed.ncbi.nlm.nih.gov/?term=FKRP	None	None	8335	316
FKTN	fukutin	Congenital muscular dystrophy without intellectual disability?0027117;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1?0024665;Familial isolated dilated cardiomyopathy?0027293;Walker-Warburg congenital muscular dystrophy?0002599;Myopathy caused by variation in FKTN?0026340;Autosomal recessive limb-girdle muscular dystrophy type 2M?0012538;Muscle eye brain disease?0000156;Dilated cardiomyopathy 1X?0015522;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4?0006475;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4?0018456	https://raresource.nih.gov/literature/gene/FKTN	2218	ENSG00000106692	3622	https://pubmed.ncbi.nlm.nih.gov/?term=FKTN	None	None	31186	242
FLAD1	flavin adenine dinucleotide synthetase 1	Myopathy with abnormal lipid metabolism?0024689;Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type?0017626;Multiple acyl-CoA dehydrogenase deficiency, mild type?0017627	https://raresource.nih.gov/literature/gene/FLAD1	80308	ENSG00000160688	24671	https://pubmed.ncbi.nlm.nih.gov/?term=FLAD1	None	None	5722	482
FLCN	folliculin	Birt-Hogg-Dube syndrome 1?0002322;17p11.2 microduplication syndrome?0010145;Familial spontaneous pneumothorax?0004997;Nonpapillary renal cell carcinoma?0024575	https://raresource.nih.gov/literature/gene/FLCN	201163	ENSG00000154803	27310	https://pubmed.ncbi.nlm.nih.gov/?term=FLCN	None	None	11665	795
FLG	filaggrin	Ichthyosis vulgaris?0006752	https://raresource.nih.gov/literature/gene/FLG	2312	ENSG00000143631	3748	https://pubmed.ncbi.nlm.nih.gov/?term=FLG	None	None	15595	2983
FLG2	filaggrin 2	Peeling skin syndrome type A?0017258;Peeling skin syndrome 6?0025988	https://raresource.nih.gov/literature/gene/FLG2	388698	ENSG00000143520	33276	https://pubmed.ncbi.nlm.nih.gov/?term=FLG2	None	None	7109	117
FLI1	Fli-1 proto-oncogene, ETS transcription factor	Bleeding disorder, platelet-type, 21?0016230;Isolated delta-storage pool disease?0020674	https://raresource.nih.gov/literature/gene/FLI1	2313	ENSG00000151702	3749	https://pubmed.ncbi.nlm.nih.gov/?term=FLI1	None	None	42985	2376
FLII	FLII actin remodeling protein	Cardiomyopathy, dilated, 2j?0026900	https://raresource.nih.gov/literature/gene/FLII	2314	ENSG00000177731	3750	https://pubmed.ncbi.nlm.nih.gov/?term=FLII	None	None	7149	2033
FLNA	filamin A	Oto-palato-digital syndrome, type II?0005802;Congenital short bowel syndrome?0016592;Frontometaphyseal dysplasia?0000826;Melnick-Needles syndrome?0007011;Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked?0003017;Tetralogy of Fallot?0002245;Heterotopia, periventricular, X-linked dominant?0007371;Terminal osseous dysplasia-pigmentary defects syndrome?0016769;X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome?0021990;Oto-palato-digital syndrome, type I?0005121;X-linked Ehlers-Danlos syndrome?0008505;Cardiac valvular dysplasia, X-linked?0001096;Frontometaphyseal dysplasia 1?0015293;Periventricular nodular heterotopia?0012724	https://raresource.nih.gov/literature/gene/FLNA	2316	ENSG00000196924	3754	https://pubmed.ncbi.nlm.nih.gov/?term=FLNA	None	None	8510	1637
FLNB	filamin B	Atelosteogenesis type I?0009287;Larsen syndrome?0006860;Boomerang dysplasia?0000933;Spondylocarpotarsal synostosis syndrome?0004974;Atelosteogenesis type III?0010608;FLNB-associated autosomal dominant filamin related bone disorder?0027604	https://raresource.nih.gov/literature/gene/FLNB	2317	ENSG00000136068	3755	https://pubmed.ncbi.nlm.nih.gov/?term=FLNB	None	None	64703	31
FLNC	filamin C	Distal myopathy with posterior leg and anterior hand involvement?0016666;Hypertrophic cardiomyopathy 26?0025029;Myofibrillar myopathy 5?0017062	https://raresource.nih.gov/literature/gene/FLNC	2318	ENSG00000128591	3756	https://pubmed.ncbi.nlm.nih.gov/?term=FLNC	None	None	15188	675
FLRT3	fibronectin leucine rich transmembrane protein 3	Hypogonadism with anosmia?0010771;Hypogonadotropic hypogonadism 21 with or without anosmia?0015933	https://raresource.nih.gov/literature/gene/FLRT3	23767	ENSG00000125848	3762	https://pubmed.ncbi.nlm.nih.gov/?term=FLRT3	None	None	2592	85
FLT3	fms related receptor tyrosine kinase 3	Acute myeloid leukemia with minimal differentiation?0019588;Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)?0022354;Acute myeloblastic leukemia with maturation?0000527;Acute myeloid leukemia?0012757;Acute myeloblastic leukemia without maturation?0000526;B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)?0022342;Precursor T-cell acute lymphoblastic leukemia?0019694;Acute lymphoid leukemia?0000522;Mixed phenotype acute leukemia with t(v;11q23.3)?0022357	https://raresource.nih.gov/literature/gene/FLT3	2322	ENSG00000122025	3765	https://pubmed.ncbi.nlm.nih.gov/?term=FLT3	None	None	39664	11
FLT4	fms related receptor tyrosine kinase 4	Hereditary lymphedema type I?0003328;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/FLT4	2324	ENSG00000037280	3767	https://pubmed.ncbi.nlm.nih.gov/?term=FLT4	None	None	31756	11
FLVCR1	FLVCR choline and heme transporter 1	FLVCR1-related retinopathy with or without ataxia?0026224;Posterior column ataxia-retinitis pigmentosa syndrome?0009898	https://raresource.nih.gov/literature/gene/FLVCR1	28982	ENSG00000162769	24682	https://pubmed.ncbi.nlm.nih.gov/?term=FLVCR1	None	None	18891	283
FLVCR2	FLVCR choline and putative heme transporter 2	Fowler syndrome?0017138	https://raresource.nih.gov/literature/gene/FLVCR2	55640	ENSG00000119686	20105	https://pubmed.ncbi.nlm.nih.gov/?term=FLVCR2	None	None	16977	766
FMN2	formin 2	Intellectual disability, autosomal recessive 47?0022569;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/FMN2	56776	ENSG00000155816	14074	https://pubmed.ncbi.nlm.nih.gov/?term=FMN2	None	None	151067	123
FMO3	flavin containing dimethylaniline monoxygenase 3	Severe primary trimethylaminuria?0006447	https://raresource.nih.gov/literature/gene/FMO3	2328	ENSG00000007933	3771	https://pubmed.ncbi.nlm.nih.gov/?term=FMO3	None	None	14330	571
FMR1	fragile X messenger ribonucleoprotein 1	Fragile X-associated tremor/ataxia syndrome?0016806;Premature ovarian failure 1?0002811;Fragile X syndrome?0006464	https://raresource.nih.gov/literature/gene/FMR1	2332	ENSG00000102081	3775	https://pubmed.ncbi.nlm.nih.gov/?term=FMR1	None	None	8223	4671
FN1	fibronectin 1	Glomerulopathy with fibronectin deposits 2?0009914;Spondylometaphyseal dysplasia - Sutcliffe type?0004991;Fibronectin glomerulopathy?0015019	https://raresource.nih.gov/literature/gene/FN1	2335	ENSG00000115414	3778	https://pubmed.ncbi.nlm.nih.gov/?term=FN1	None	None	36388	42083
FOLR1	folate receptor alpha	Cerebral folate transport deficiency?0010594	https://raresource.nih.gov/literature/gene/FOLR1	2348	ENSG00000110195	3791	https://pubmed.ncbi.nlm.nih.gov/?term=FOLR1	None	None	1934	1459
FOS	Fos proto-oncogene, AP-1 transcription factor subunit	Berardinelli-Seip congenital lipodystrophy?0013388	https://raresource.nih.gov/literature/gene/FOS	2353	ENSG00000170345	3796	https://pubmed.ncbi.nlm.nih.gov/?term=FOS	None	None	2603	45246
FOXA2	forkhead box A2	Combined pituitary hormone deficiencies, genetic form?0010602	https://raresource.nih.gov/literature/gene/FOXA2	3170	ENSG00000125798	5022	https://pubmed.ncbi.nlm.nih.gov/?term=FOXA2	None	None	3895	1533
FOXC1	forkhead box C1	Axenfeld-Rieger syndrome?0005701;Isolated aniridia?0005816;Axenfeld anomaly?0016485;Axenfeld-Rieger syndrome type 3?0009626;Anterior segment dysgenesis 3?0002978;Rieger anomaly?0016482;FOXC1-related anterior segment dysgenesis?0026091	https://raresource.nih.gov/literature/gene/FOXC1	2296	ENSG00000054598	3800	https://pubmed.ncbi.nlm.nih.gov/?term=FOXC1	None	None	4386	1302
FOXC2	forkhead box C2	Distichiasis-lymphedema syndrome?0000333	https://raresource.nih.gov/literature/gene/FOXC2	2303	ENSG00000176692	3801	https://pubmed.ncbi.nlm.nih.gov/?term=FOXC2	None	None	2845	1502
FOXE1	forkhead box E1	Familial papillary or follicular thyroid carcinoma?0008488;Bamforth-Lazarus syndrome?0000414;Thyroid cancer, nonmedullary, 4?0016132	https://raresource.nih.gov/literature/gene/FOXE1	2304	ENSG00000178919	3806	https://pubmed.ncbi.nlm.nih.gov/?term=FOXE1	None	None	3289	412
FOXE3	forkhead box E3	Familial thoracic aortic aneurysm and aortic dissection?0002249;Cataract 34 multiple types?0015599;Congenital primary aphakia?0009952	https://raresource.nih.gov/literature/gene/FOXE3	2301	ENSG00000186790	3808	https://pubmed.ncbi.nlm.nih.gov/?term=FOXE3	None	None	2231	132
FOXF1	forkhead box F1	Alveolar capillary dysplasia with pulmonary venous misalignment?0008644	https://raresource.nih.gov/literature/gene/FOXF1	2294	ENSG00000103241	3809	https://pubmed.ncbi.nlm.nih.gov/?term=FOXF1	None	None	3702	414
FOXG1	forkhead box G1	FOXG1 disorder?0026022;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/FOXG1	2290	ENSG00000176165	3811	https://pubmed.ncbi.nlm.nih.gov/?term=FOXG1	None	None	3239	818
FOXH1	forkhead box H1	Microform holoprosencephaly?0017290;Lobar holoprosencephaly?0016830;Tetralogy of Fallot?0002245;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/FOXH1	8928	ENSG00000160973	3814	https://pubmed.ncbi.nlm.nih.gov/?term=FOXH1	None	None	2012	193
FOXI1	forkhead box I1	Pendred syndrome?0004271;Autosomal recessive distal renal tubular acidosis?0004666;Autosomal recessive nonsyndromic hearing loss 4?0022584	https://raresource.nih.gov/literature/gene/FOXI1	2299	ENSG00000168269	3815	https://pubmed.ncbi.nlm.nih.gov/?term=FOXI1	None	None	4321	173
FOXI3	forkhead box I3	Craniofacial microsomia 2?0026968	https://raresource.nih.gov/literature/gene/FOXI3	344167	ENSG00000214336	35123	https://pubmed.ncbi.nlm.nih.gov/?term=FOXI3	None	None	3679	45
FOXJ1	forkhead box J1	Tetralogy of Fallot?0002245;Primary ciliary dyskinesia?0004484;Ciliary dyskinesia, primary, 43?0025764	https://raresource.nih.gov/literature/gene/FOXJ1	2302	ENSG00000129654	3816	https://pubmed.ncbi.nlm.nih.gov/?term=FOXJ1	None	None	2843	451
FOXL1	forkhead box L1	Otosclerosis 11?0026894;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/FOXL1	2300	ENSG00000176678	3817	https://pubmed.ncbi.nlm.nih.gov/?term=FOXL1	None	None	3118	158
FOXL2	forkhead box L2	Premature ovarian failure 3?0024851;Maligant granulosa cell tumor of ovary?0019707;Blepharophimosis-ptosis-epicanthus inversus syndrome type 1?0018008;Blepharophimosis-ptosis-epicanthus inversus syndrome type 2?0010213;Blepharophimosis, ptosis, and epicanthus inversus syndrome?0000023	https://raresource.nih.gov/literature/gene/FOXL2	668	ENSG00000183770	1092	https://pubmed.ncbi.nlm.nih.gov/?term=FOXL2	None	None	2742	1223
FOXN1	forkhead box N1	T-lymphocyte deficiency?0007201;T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant?0027138;T-cell immunodeficiency, congenital alopecia, and nail dystrophy?0004358	https://raresource.nih.gov/literature/gene/FOXN1	8456	ENSG00000109101	12765	https://pubmed.ncbi.nlm.nih.gov/?term=FOXN1	None	None	10859	483
FOXO1	forkhead box O1	Alveolar rhabdomyosarcoma?0004701	https://raresource.nih.gov/literature/gene/FOXO1	2308	ENSG00000150907	3819	https://pubmed.ncbi.nlm.nih.gov/?term=FOXO1	None	None	40948	7824
FOXP1	forkhead box P1	Intellectual disability-severe speech delay-mild dysmorphism syndrome?0012501	https://raresource.nih.gov/literature/gene/FOXP1	27086	ENSG00000114861	3823	https://pubmed.ncbi.nlm.nih.gov/?term=FOXP1	None	None	295687	985
FOXP2	forkhead box P2	Childhood apraxia of speech?0012889	https://raresource.nih.gov/literature/gene/FOXP2	93986	ENSG00000128573	13875	https://pubmed.ncbi.nlm.nih.gov/?term=FOXP2	None	None	219075	844
FOXP3	forkhead box P3	Insulin-dependent diabetes mellitus secretory diarrhea syndrome?0001850	https://raresource.nih.gov/literature/gene/FOXP3	50943	ENSG00000049768	6106	https://pubmed.ncbi.nlm.nih.gov/?term=FOXP3	None	None	3169	22150
FOXRED1	FAD dependent oxidoreductase domain containing 1	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 19?0016326	https://raresource.nih.gov/literature/gene/FOXRED1	55572	ENSG00000110074	26927	https://pubmed.ncbi.nlm.nih.gov/?term=FOXRED1	None	None	3305	37
FPR1	formyl peptide receptor 1	Susceptibility to localized juvenile periodontitis?0021865	https://raresource.nih.gov/literature/gene/FPR1	2357	ENSG00000171051	3826	https://pubmed.ncbi.nlm.nih.gov/?term=FPR1	None	None	4139	1578
FRA16E	fragile site, distamycin A type, rare, fra(16)(p12.1)	Chromosome 16p12.1 deletion syndrome, 520kb?0024567	https://raresource.nih.gov/literature/gene/FRA16E	2464		3861	https://pubmed.ncbi.nlm.nih.gov/?term=FRA16E	None	None	None	None
FRAS1	Fraser extracellular matrix complex subunit 1	Cryptophthalmos syndrome?0006465;Fraser syndrome 1?0025962;Unilateral renal agenesis?0016804	https://raresource.nih.gov/literature/gene/FRAS1	80144	ENSG00000138759	19185	https://pubmed.ncbi.nlm.nih.gov/?term=FRAS1	None	None	181175	157
FREM1	FRAS1 related extracellular matrix 1	BNAR syndrome?0010595;Unilateral renal agenesis?0016804;Oculotrichoanal syndrome?0003395;Interfrontal craniofaciosynostosis?0016626;Trigonocephaly 2?0018559	https://raresource.nih.gov/literature/gene/FREM1	158326	ENSG00000164946	23399	https://pubmed.ncbi.nlm.nih.gov/?term=FREM1	None	None	84779	398
FREM2	FRAS1 related extracellular matrix 2	Unilateral renal agenesis?0016804;Fraser syndrome 2?0025963;Isolated cryptophthalmia?0016797;Cryptophthalmos syndrome?0006465;Complete cryptophthalmia?0016876	https://raresource.nih.gov/literature/gene/FREM2	341640	ENSG00000150893	25396	https://pubmed.ncbi.nlm.nih.gov/?term=FREM2	None	None	66348	104
FRG1	FSHD region gene 1	Facioscapulohumeral muscular dystrophy 1?0015087	https://raresource.nih.gov/literature/gene/FRG1	2483	ENSG00000109536	3954	https://pubmed.ncbi.nlm.nih.gov/?term=FRG1	None	None	11709	83
FRMD4A	FERM domain containing 4A	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome?0017824	https://raresource.nih.gov/literature/gene/FRMD4A	55691	ENSG00000151474	25491	https://pubmed.ncbi.nlm.nih.gov/?term=FRMD4A	None	None	329380	47
FRMPD4	FERM and PDZ domain containing 4	Intellectual disability, X-linked 104?0022696;Non-syndromic X-linked intellectual disability?0018640	https://raresource.nih.gov/literature/gene/FRMPD4	9758	ENSG00000169933	29007	https://pubmed.ncbi.nlm.nih.gov/?term=FRMPD4	None	None	149699	27
FRRS1L	ferric chelate reductase 1 like	Autosomal recessive non-syndromic intellectual disability?0018643;Developmental and epileptic encephalopathy, 37?0025027	https://raresource.nih.gov/literature/gene/FRRS1L	23732	ENSG00000260230	1362	https://pubmed.ncbi.nlm.nih.gov/?term=FRRS1L	None	None	14577	21
FSCN2	fascin actin-bundling protein 2, retinal	Retinitis pigmentosa 30?0010401	https://raresource.nih.gov/literature/gene/FSCN2	25794	ENSG00000186765	3960	https://pubmed.ncbi.nlm.nih.gov/?term=FSCN2	None	None	9099	60
FSHB	follicle stimulating hormone subunit beta	Hypogonadotropic hypogonadism 24 without anosmia?0010128	https://raresource.nih.gov/literature/gene/FSHB	2488	ENSG00000131808	3964	https://pubmed.ncbi.nlm.nih.gov/?term=FSHB	None	None	2024	831
FSHR	follicle stimulating hormone receptor	Ovarian dysgenesis 1?0018039;46 XX gonadal dysgenesis?0005671;Ovarian hyperstimulation syndrome?0016668	https://raresource.nih.gov/literature/gene/FSHR	2492	ENSG00000170820	3969	https://pubmed.ncbi.nlm.nih.gov/?term=FSHR	None	None	84887	2955
FSIP2	fibrous sheath interacting protein 2	Spermatogenic failure 34?0018407	https://raresource.nih.gov/literature/gene/FSIP2	401024	ENSG00000188738	21675	https://pubmed.ncbi.nlm.nih.gov/?term=FSIP2	None	None	37079	49
FTCD	formimidoyltransferase cyclodeaminase	Glutamate formiminotransferase deficiency?0009279	https://raresource.nih.gov/literature/gene/FTCD	10841	ENSG00000160282	3974	https://pubmed.ncbi.nlm.nih.gov/?term=FTCD	None	None	10775	109
FTH1	ferritin heavy chain 1	Hemochromatosis type 5?0013472;Neurodegeneration with brain iron accumulation 9?0026909	https://raresource.nih.gov/literature/gene/FTH1	2495	ENSG00000167996	3976	https://pubmed.ncbi.nlm.nih.gov/?term=FTH1	None	None	1921	2490
FTL	ferritin light chain	L-ferritin deficiency?0017748;Neuroferritinopathy?0010686;Hereditary hyperferritinemia with congenital cataracts?0002806	https://raresource.nih.gov/literature/gene/FTL	2512	ENSG00000087086	3999	https://pubmed.ncbi.nlm.nih.gov/?term=FTL	None	None	1271	725
FTO	FTO alpha-ketoglutarate dependent dioxygenase	Lethal polymalformative syndrome, Boissel type?0017110	https://raresource.nih.gov/literature/gene/FTO	79068	ENSG00000140718	24678	https://pubmed.ncbi.nlm.nih.gov/?term=FTO	None	None	100777	3602
FTSJ1	FtsJ RNA 2'-O-methyltransferase 1	Intellectual disability, X-linked 9?0022700;Non-syndromic X-linked intellectual disability?0018640	https://raresource.nih.gov/literature/gene/FTSJ1	24140	ENSG00000068438	13254	https://pubmed.ncbi.nlm.nih.gov/?term=FTSJ1	None	None	2619	104
FUCA1	alpha-L-fucosidase 1	Fucosidosis?0006473	https://raresource.nih.gov/literature/gene/FUCA1	2517	ENSG00000179163	4006	https://pubmed.ncbi.nlm.nih.gov/?term=FUCA1	None	None	11241	152
FUS	FUS RNA binding protein	Amyotrophic lateral sclerosis type 6?0009874;Amyotrophic lateral sclerosis?0005786;Juvenile amyotrophic lateral sclerosis?0011901	https://raresource.nih.gov/literature/gene/FUS	2521	ENSG00000089280	4010	https://pubmed.ncbi.nlm.nih.gov/?term=FUS	None	None	6828	464
FUT8	fucosyltransferase 8	Congenital disorder of glycosylation with defective fucosylation 1?0025246	https://raresource.nih.gov/literature/gene/FUT8	2530	ENSG00000033170	4019	https://pubmed.ncbi.nlm.nih.gov/?term=FUT8	None	None	83376	447
FUZ	fuzzy planar cell polarity protein	Non-syndromic non-specific multisutural craniosynostosis?0022475;Caudal regression sequence?0006007	https://raresource.nih.gov/literature/gene/FUZ	80199	ENSG00000010361	26219	https://pubmed.ncbi.nlm.nih.gov/?term=FUZ	None	None	2494	391
FXN	frataxin	Friedreich ataxia 1?0026147;Friedreich ataxia 2?0015340	https://raresource.nih.gov/literature/gene/FXN	2395	ENSG00000165060	3951	https://pubmed.ncbi.nlm.nih.gov/?term=FXN	None	None	309	2229
FXR1	FMR1 autosomal homolog 1	Myopathy, congenital proximal, with minicore lesions?0025780;Myopathy, congenital, with respiratory insufficiency and bone fractures?0025779	https://raresource.nih.gov/literature/gene/FXR1	8087	ENSG00000114416	4023	https://pubmed.ncbi.nlm.nih.gov/?term=FXR1	None	None	27627	280
FXYD2	FXYD domain containing ion transport regulator 2	Renal hypomagnesemia 2?0003350	https://raresource.nih.gov/literature/gene/FXYD2	486	ENSG00000137731	4026	https://pubmed.ncbi.nlm.nih.gov/?term=FXYD2	None	None	4347	114
FYB1	FYN binding protein 1	Congenital autosomal recessive small-platelet thrombocytopenia?0022274;Thrombocytopenia 3?0018288	https://raresource.nih.gov/literature/gene/FYB1	2533	ENSG00000082074	4036	https://pubmed.ncbi.nlm.nih.gov/?term=FYB1	None	None	65157	340
FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	Congenital total cataract?0001159;Early-onset nuclear cataract?0016887;Cataract 18?0009892	https://raresource.nih.gov/literature/gene/FYCO1	79443	ENSG00000163820	14673	https://pubmed.ncbi.nlm.nih.gov/?term=FYCO1	None	None	26494	139
FZD2	frizzled class receptor 2	Autosomal dominant omodysplasia?0003643;Autosomal dominant Robinow syndrome?0016620	https://raresource.nih.gov/literature/gene/FZD2	2535	ENSG00000180340	4040	https://pubmed.ncbi.nlm.nih.gov/?term=FZD2	None	None	2766	341
FZD4	frizzled class receptor 4	Familial exudative vitreoretinopathy?0001613;Exudative vitreoretinopathy 1?0015068;Persistent hyperplastic primary vitreous?0016803;FZD4-related exudative vitreoretinopathy?0027243	https://raresource.nih.gov/literature/gene/FZD4	8322	ENSG00000174804	4042	https://pubmed.ncbi.nlm.nih.gov/?term=FZD4	None	None	1683	6221
FZD5	frizzled class receptor 5	Coloboma of choroid and retina?0016875;Microphthalmia/coloboma 11?0026984;Iris coloboma?0001434;Eyelid coloboma?0019605;Lens coloboma?0001433;Coloboma of macula?0001436	https://raresource.nih.gov/literature/gene/FZD5	7855	ENSG00000163251	4043	https://pubmed.ncbi.nlm.nih.gov/?term=FZD5	None	None	4410	4195
FZD6	frizzled class receptor 6	Nonsyndromic congenital nail disorder 1?0010363	https://raresource.nih.gov/literature/gene/FZD6	8323	ENSG00000164930	4044	https://pubmed.ncbi.nlm.nih.gov/?term=FZD6	None	None	12212	292
FZR1	fizzy and cell division cycle 20 related 1	Undetermined early-onset epileptic encephalopathy?0015028;Developmental and epileptic encephalopathy 109?0026699	https://raresource.nih.gov/literature/gene/FZR1	51343	ENSG00000105325	24824	https://pubmed.ncbi.nlm.nih.gov/?term=FZR1	None	None	13230	4081
G6PC1	glucose-6-phosphatase catalytic subunit 1	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA?0007864	https://raresource.nih.gov/literature/gene/G6PC1	2538	ENSG00000131482	4056	https://pubmed.ncbi.nlm.nih.gov/?term=G6PC1	None	None	None	2068
G6PC3	glucose-6-phosphatase catalytic subunit 3	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency?0017511	https://raresource.nih.gov/literature/gene/G6PC3	92579	ENSG00000141349	24861	https://pubmed.ncbi.nlm.nih.gov/?term=G6PC3	None	None	2535	167
G6PD	glucose-6-phosphate dehydrogenase	Malaria?0006961;Anemia, nonspherocytic hemolytic, due to G6PD deficiency?0006520	https://raresource.nih.gov/literature/gene/G6PD	2539	ENSG00000160211	4057	https://pubmed.ncbi.nlm.nih.gov/?term=G6PD	None	None	4051	14658
GAA	alpha glucosidase	Glycogen storage disease due to acid maltase deficiency, late-onset?0021746;Glycogen storage disease due to acid maltase deficiency, infantile onset?0021310;Glycogen storage disease, type II?0005714	https://raresource.nih.gov/literature/gene/GAA	2548	ENSG00000171298	4065	https://pubmed.ncbi.nlm.nih.gov/?term=GAA	None	None	8822	4458
GAB1	GRB2 associated binding protein 1	Autosomal recessive nonsyndromic hearing loss 26?0022599	https://raresource.nih.gov/literature/gene/GAB1	2549	ENSG00000109458	4066	https://pubmed.ncbi.nlm.nih.gov/?term=GAB1	None	None	49605	659
GABBR1	gamma-aminobutyric acid type B receptor subunit 1	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/GABBR1	2550	ENSG00000204681	4070	https://pubmed.ncbi.nlm.nih.gov/?term=GABBR1	None	None	24898	675
GABBR2	gamma-aminobutyric acid type B receptor subunit 2	Developmental and epileptic encephalopathy, 59?0025797;Atypical Rett syndrome?0004694;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/GABBR2	9568	ENSG00000136928	4507	https://pubmed.ncbi.nlm.nih.gov/?term=GABBR2	None	None	149997	346
GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	Developmental and epileptic encephalopathy, 19?0016008	https://raresource.nih.gov/literature/gene/GABRA1	2554	ENSG00000022355	4075	https://pubmed.ncbi.nlm.nih.gov/?term=GABRA1	None	None	23599	364
GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	Developmental and epileptic encephalopathy, 78?0016365;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/GABRA2	2555	ENSG00000151834	4076	https://pubmed.ncbi.nlm.nih.gov/?term=GABRA2	None	None	90245	271
GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features?0026742	https://raresource.nih.gov/literature/gene/GABRA3	2556	ENSG00000011677	4077	https://pubmed.ncbi.nlm.nih.gov/?term=GABRA3	None	None	55708	119
GABRA5	gamma-aminobutyric acid type A receptor subunit alpha5	Developmental and epileptic encephalopathy, 79?0016366;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/GABRA5	2558	ENSG00000186297	4079	https://pubmed.ncbi.nlm.nih.gov/?term=GABRA5	None	None	4277	187
GABRB1	gamma-aminobutyric acid type A receptor subunit beta1	Developmental and epileptic encephalopathy, 45?0016203	https://raresource.nih.gov/literature/gene/GABRB1	2560	ENSG00000163288	4081	https://pubmed.ncbi.nlm.nih.gov/?term=GABRB1	None	None	157807	114
GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	Developmental and epileptic encephalopathy 92?0016258;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/GABRB2	2561	ENSG00000145864	4082	https://pubmed.ncbi.nlm.nih.gov/?term=GABRB2	None	None	93957	163
GABRB3	gamma-aminobutyric acid type A receptor subunit beta3	Developmental and epileptic encephalopathy, 43?0016192;Lennox-Gastaut syndrome?0009912	https://raresource.nih.gov/literature/gene/GABRB3	2562	ENSG00000166206	4083	https://pubmed.ncbi.nlm.nih.gov/?term=GABRB3	None	None	109788	321
GABRG2	gamma-aminobutyric acid type A receptor subunit gamma2	Generalized epilepsy with febrile seizures plus?0018641;Febrile seizures, familial, 8?0018058;Developmental and epileptic encephalopathy, 74?0016349;Undetermined early-onset epileptic encephalopathy?0015028;Self-limited epilepsy with centrotemporal spikes?0010287	https://raresource.nih.gov/literature/gene/GABRG2	2566	ENSG00000113327	4087	https://pubmed.ncbi.nlm.nih.gov/?term=GABRG2	None	None	65280	360
GAD1	glutamate decarboxylase 1	Developmental and epileptic encephalopathy 89?0016424;Spastic quadriplegic cerebral palsy?0017109	https://raresource.nih.gov/literature/gene/GAD1	2571	ENSG00000128683	4092	https://pubmed.ncbi.nlm.nih.gov/?term=GAD1	None	None	20203	5361
GAL	galanin and GMAP prepropeptide	Familial temporal lobe epilepsy 8?0016116	https://raresource.nih.gov/literature/gene/GAL	51083	ENSG00000069482	4114	https://pubmed.ncbi.nlm.nih.gov/?term=GAL	None	None	4241	15233
GALC	galactosylceramidase	Infantile Krabbe disease?0020343;Galactosylceramide beta-galactosidase deficiency?0006844;Late-infantile/juvenile Krabbe disease?0020344;Adult Krabbe disease?0020345	https://raresource.nih.gov/literature/gene/GALC	2581	ENSG00000054983	4115	https://pubmed.ncbi.nlm.nih.gov/?term=GALC	None	None	36458	879
GALE	UDP-galactose-4-epimerase	Thrombocytopenia 13, syndromic?0027013;UDPglucose-4-epimerase deficiency?0005392;Erythrocyte galactose epimerase deficiency?0017392;Generalized galactose epimerase deficiency?0017393	https://raresource.nih.gov/literature/gene/GALE	2582	ENSG00000117308	4116	https://pubmed.ncbi.nlm.nih.gov/?term=GALE	None	None	2824	689
GALK1	galactokinase 1	Deficiency of galactokinase?0002422	https://raresource.nih.gov/literature/gene/GALK1	2584	ENSG00000108479	4118	https://pubmed.ncbi.nlm.nih.gov/?term=GALK1	None	None	2957	974
GALM	galactose mutarotase	Galactosemia 4?0018005	https://raresource.nih.gov/literature/gene/GALM	130589	ENSG00000143891	24063	https://pubmed.ncbi.nlm.nih.gov/?term=GALM	None	None	32475	177
GALNS	galactosamine (N-acetyl)-6-sulfatase	Mucopolysaccharidosis, MPS-IV-A?0003785	https://raresource.nih.gov/literature/gene/GALNS	2588	ENSG00000141012	4122	https://pubmed.ncbi.nlm.nih.gov/?term=GALNS	None	None	16660	1542
GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	Congenital disorder of glycosylation, type iit?0025515	https://raresource.nih.gov/literature/gene/GALNT2	2590	ENSG00000143641	4124	https://pubmed.ncbi.nlm.nih.gov/?term=GALNT2	None	None	78566	178
GALNT3	polypeptide N-acetylgalactosaminyltransferase 3	Tumoral calcinosis, hyperphosphatemic, familial, 1?0015146;Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome?0010879	https://raresource.nih.gov/literature/gene/GALNT3	2591	ENSG00000115339	4125	https://pubmed.ncbi.nlm.nih.gov/?term=GALNT3	None	None	18322	275
GALT	galactose-1-phosphate uridylyltransferase	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase?0013639	https://raresource.nih.gov/literature/gene/GALT	2592	ENSG00000213930	4135	https://pubmed.ncbi.nlm.nih.gov/?term=GALT	None	None	2914	1253
GAMT	guanidinoacetate N-methyltransferase	Deficiency of guanidinoacetate methyltransferase?0002578	https://raresource.nih.gov/literature/gene/GAMT	2593	ENSG00000130005	4136	https://pubmed.ncbi.nlm.nih.gov/?term=GAMT	None	None	3142	323
GAN	gigaxonin	Giant axonal neuropathy 1?0006500	https://raresource.nih.gov/literature/gene/GAN	8139	ENSG00000261609	4137	https://pubmed.ncbi.nlm.nih.gov/?term=GAN	None	None	23309	168
GANAB	glucosidase II alpha subunit	Polycystic kidney disease 3 with or without polycystic liver disease?0018598	https://raresource.nih.gov/literature/gene/GANAB	23193	ENSG00000089597	4138	https://pubmed.ncbi.nlm.nih.gov/?term=GANAB	None	None	10454	251
GAPVD1	GTPase activating protein and VPS9 domains 1	Familial idiopathic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/GAPVD1	26130	ENSG00000165219	23375	https://pubmed.ncbi.nlm.nih.gov/?term=GAPVD1	None	None	40417	33
GARS1	glycyl-tRNA synthetase 1	Neuronopathy, distal hereditary motor, type 5?0016955;Neuronopathy, distal hereditary motor, type 5A?0018266;Charcot-Marie-Tooth disease type 2D?0001251	https://raresource.nih.gov/literature/gene/GARS1	2617	ENSG00000106105	4162	https://pubmed.ncbi.nlm.nih.gov/?term=GARS1	None	None	15339	2099
GAS1	growth arrest specific 1	Microform holoprosencephaly?0017290;Lobar holoprosencephaly?0016830;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/GAS1	2619	ENSG00000180447	4165	https://pubmed.ncbi.nlm.nih.gov/?term=GAS1	None	None	3350	480
GAS2	growth arrest specific 2	Hearing loss, autosomal recessive 125?0027205	https://raresource.nih.gov/literature/gene/GAS2	2620	ENSG00000148935	4167	https://pubmed.ncbi.nlm.nih.gov/?term=GAS2	None	None	20062	122
GAS2L2	growth arrest specific 2 like 2	Primary ciliary dyskinesia?0004484;Ciliary dyskinesia, primary, 41?0016353	https://raresource.nih.gov/literature/gene/GAS2L2	246176	ENSG00000270765	24846	https://pubmed.ncbi.nlm.nih.gov/?term=GAS2L2	None	None	4241	11
GAS8	growth arrest specific 8	Primary ciliary dyskinesia 33?0016154;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/GAS8	2622	ENSG00000141013	4166	https://pubmed.ncbi.nlm.nih.gov/?term=GAS8	None	None	9711	68
GAS8-AS1	GAS8 antisense RNA 1	Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/GAS8-AS1	750	ENSG00000221819	1197	https://pubmed.ncbi.nlm.nih.gov/?term=GAS8-AS1	None	None	None	22
GATA1	GATA binding protein 1	Acute megakaryoblastic leukemia in down syndrome?0019697;Thrombocytopenia, X-linked, with or without dyserythropoietic anemia?0024718;Diamond-Blackfan anemia?0006274;GATA binding protein 1 related thrombocytopenia with dyserythropoiesis?0026040;Transient myeloproliferative syndrome?0012765;Thrombocytopenia with congenital dyserythropoietic anemia?0016676;Hemolytic anemia due to erythrocyte adenosine deaminase overproduction?0019669;X-linked dyserythropoetic anemia with abnormal platelets and neutropenia?0017574;Beta-thalassemia-X-linked thrombocytopenia syndrome?0017166	https://raresource.nih.gov/literature/gene/GATA1	2623	ENSG00000102145	4170	https://pubmed.ncbi.nlm.nih.gov/?term=GATA1	None	None	3068	2905
GATA2	GATA binding protein 2	Myelodysplastic syndrome?0007132;Acute myeloid leukemia?0012757;Monocytopenia with susceptibility to infections?0010934;Deafness-lymphedema-leukemia syndrome?0013030	https://raresource.nih.gov/literature/gene/GATA2	2624	ENSG00000179348	4171	https://pubmed.ncbi.nlm.nih.gov/?term=GATA2	None	None	8285	1746
GATA3	GATA binding protein 3	Hypoparathyroidism, deafness, renal disease syndrome?0002911	https://raresource.nih.gov/literature/gene/GATA3	2625	ENSG00000107485	4172	https://pubmed.ncbi.nlm.nih.gov/?term=GATA3	None	None	13125	4501
GATA4	GATA binding protein 4	Atrial septal defect, ostium secundum type?0005865;Atrial septal defect 2?0024832;Tetralogy of Fallot?0002245;Familial atrial fibrillation?0009740;Complete atrioventricular canal-tetralogy of fallot syndrome?0016894;Testicular anomalies with or without congenital heart disease?0018360;Complete atrioventricular canal-ventricle hypoplasia syndrome?0016893;Atrioventricular septal defect 4?0024944;46,XY partial gonadal dysgenesis?0017211	https://raresource.nih.gov/literature/gene/GATA4	2626	ENSG00000136574	4173	https://pubmed.ncbi.nlm.nih.gov/?term=GATA4	None	None	39957	2642
GATA5	GATA binding protein 5	Tetralogy of Fallot?0002245;Familial bicuspid aortic valve?0017670;Familial atrial fibrillation?0009740	https://raresource.nih.gov/literature/gene/GATA5	140628	ENSG00000130700	15802	https://pubmed.ncbi.nlm.nih.gov/?term=GATA5	None	None	8940	294
GATA6	GATA binding protein 6	Atrial septal defect, ostium secundum type?0005865;Atrioventricular septal defect 5?0024948;Tetralogy of Fallot?0002245;Familial atrial fibrillation?0009740;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome?0000347;Conotruncal heart malformations?0008189;Complete atrioventricular canal-ventricle hypoplasia syndrome?0016893;Atrial septal defect 9?0024949	https://raresource.nih.gov/literature/gene/GATA6	2627	ENSG00000141448	4174	https://pubmed.ncbi.nlm.nih.gov/?term=GATA6	None	None	10413	1110
GATAD1	GATA zinc finger domain containing 1	Dilated cardiomyopathy 2B?0015832;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/GATAD1	57798	ENSG00000157259	29941	https://pubmed.ncbi.nlm.nih.gov/?term=GATAD1	None	None	5164	26
GATAD2B	GATA zinc finger domain containing 2B	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome?0012815	https://raresource.nih.gov/literature/gene/GATAD2B	57459	ENSG00000143614	30778	https://pubmed.ncbi.nlm.nih.gov/?term=GATAD2B	None	None	54528	495
GATB	glutamyl-tRNA amidotransferase subunit B	Combined oxidative phosphorylation deficiency 41?0025505	https://raresource.nih.gov/literature/gene/GATB	5188	ENSG00000059691	8849	https://pubmed.ncbi.nlm.nih.gov/?term=GATB	None	None	30260	68
GATC	glutamyl-tRNA amidotransferase subunit C	Combined oxidative phosphorylation deficiency 42?0025506	https://raresource.nih.gov/literature/gene/GATC	283459	ENSG00000257218	25068	https://pubmed.ncbi.nlm.nih.gov/?term=GATC	None	None	1515	72
GATM	glycine amidinotransferase	Arginine:glycine amidinotransferase deficiency?0010323;Primary Fanconi syndrome?0009118;Fanconi renotubular syndrome 1?0025412	https://raresource.nih.gov/literature/gene/GATM	2628	ENSG00000171766	4175	https://pubmed.ncbi.nlm.nih.gov/?term=GATM	None	None	8659	3417
GBA1	glucosylceramidase beta 1	Gaucher disease type II?0002442;Parkinson disease, late-onset?0017684;Gaucher disease type I?0002441;Gaucher disease perinatal lethal?0010675;Gaucher disease type III?0002443;Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome?0012504	https://raresource.nih.gov/literature/gene/GBA1	2629	ENSG00000177628	4177	https://pubmed.ncbi.nlm.nih.gov/?term=GBA1	None	None	None	3795
GBA2	glucosylceramidase beta 2	Hereditary spastic paraplegia 46?0017476;Autosomal recessive cerebellar ataxia with late-onset spasticity?0021525	https://raresource.nih.gov/literature/gene/GBA2	57704	ENSG00000070610	18986	https://pubmed.ncbi.nlm.nih.gov/?term=GBA2	None	None	4803	136
GBE1	1,4-alpha-glucan branching enzyme 1	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form?0017398;Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form?0017397;Glycogen storage disease, type IV?0002520;Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form?0017395;Adult polyglucosan body disease?0000108;Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form?0017396;Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form?0017400;Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form?0017399;Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form?0017394	https://raresource.nih.gov/literature/gene/GBE1	2632	ENSG00000114480	4180	https://pubmed.ncbi.nlm.nih.gov/?term=GBE1	None	None	100473	355
GBF1	golgi brefeldin A resistant guanine nucleotide exchange factor 1	Charcot-Marie-Tooth Disease, axonal, type 2GG?0012437	https://raresource.nih.gov/literature/gene/GBF1	8729	ENSG00000107862	4181	https://pubmed.ncbi.nlm.nih.gov/?term=GBF1	None	None	20509	226
GCDH	glutaryl-CoA dehydrogenase	Glutaric aciduria, type 1?0006522	https://raresource.nih.gov/literature/gene/GCDH	2639	ENSG00000105607	4189	https://pubmed.ncbi.nlm.nih.gov/?term=GCDH	None	None	3676	574
GCGR	glucagon receptor	GCGR-related hyperglucagonemia?0010460	https://raresource.nih.gov/literature/gene/GCGR	2642	ENSG00000215644	4192	https://pubmed.ncbi.nlm.nih.gov/?term=GCGR	None	None	6174	1173
GCH1	GTP cyclohydrolase 1	GTP cyclohydrolase I deficiency with hyperphenylalaninemia?0002844;Dystonia 5?0009817;GTP cyclohydrolase I deficiency?0026074	https://raresource.nih.gov/literature/gene/GCH1	2643	ENSG00000131979	4193	https://pubmed.ncbi.nlm.nih.gov/?term=GCH1	None	None	17817	1293
GCK	glucokinase	Maturity onset diabetes mellitus in young?0003697;Permanent neonatal diabetes mellitus 1?0026070;Hyperinsulinism due to glucokinase deficiency?0002818;Permanent neonatal diabetes mellitus?0010457;Maturity-onset diabetes of the young type 2?0010657	https://raresource.nih.gov/literature/gene/GCK	2645	ENSG00000106633	4195	https://pubmed.ncbi.nlm.nih.gov/?term=GCK	None	None	19856	5647
GCLC	glutamate-cysteine ligase catalytic subunit	Gamma-glutamylcysteine synthetase deficiency?0016631	https://raresource.nih.gov/literature/gene/GCLC	2729	ENSG00000001084	4311	https://pubmed.ncbi.nlm.nih.gov/?term=GCLC	None	None	20434	3860
GCM2	glial cells missing transcription factor 2	Familial isolated hyperparathyroidism?0016923;Hypoparathyroidism - X-linked?0016589;Hyperparathyroidism 4?0018256;Hypoparathyroidism, familial isolated, 2?0018257	https://raresource.nih.gov/literature/gene/GCM2	9247	ENSG00000124827	4198	https://pubmed.ncbi.nlm.nih.gov/?term=GCM2	None	None	5438	174
GCNT2	glucosaminyl (N-acetyl) transferase 2 (I blood group)	Congenital total cataract?0001159;Cataract 13 with adult I phenotype?0024546	https://raresource.nih.gov/literature/gene/GCNT2	2651	ENSG00000111846	4204	https://pubmed.ncbi.nlm.nih.gov/?term=GCNT2	None	None	70843	3530
GCSH	glycine cleavage system protein H	Infantile glycine encephalopathy?0017333;Multiple mitochondrial dysfunctions syndrome 7?0026818;Neonatal glycine encephalopathy?0017332	https://raresource.nih.gov/literature/gene/GCSH	2653	ENSG00000140905	4208	https://pubmed.ncbi.nlm.nih.gov/?term=GCSH	None	None	175	152
GDAP1	ganglioside induced differentiation associated protein 1	Charcot-Marie-Tooth disease recessive intermediate A?0012453;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive?0024831;Charcot-Marie-Tooth disease type 4A?0001252;Autosomal dominant Charcot-Marie-Tooth disease type 2K?0009199;Charcot-Marie-Tooth disease axonal type 2K?0012448	https://raresource.nih.gov/literature/gene/GDAP1	54332	ENSG00000104381	15968	https://pubmed.ncbi.nlm.nih.gov/?term=GDAP1	None	None	60688	261
GDAP2	ganglioside induced differentiation associated protein 2	Spinocerebellar ataxia, autosomal recessive 27?0025724	https://raresource.nih.gov/literature/gene/GDAP2	54834	ENSG00000196505	18010	https://pubmed.ncbi.nlm.nih.gov/?term=GDAP2	None	None	11020	15
GDF1	growth differentiation factor 1	Tetralogy of Fallot?0002245;Right atrial isomerism?0006795;Congenital heart defects, multiple types, 6?0024928	https://raresource.nih.gov/literature/gene/GDF1	2657	ENSG00000130283	4214	https://pubmed.ncbi.nlm.nih.gov/?term=GDF1	None	None	8738	340
GDF2	growth differentiation factor 2	Hereditary hemorrhagic telangiectasia?0006626;Telangiectasia, hereditary hemorrhagic, type 5?0015978;Heritable pulmonary arterial hypertension?0011914	https://raresource.nih.gov/literature/gene/GDF2	2658	ENSG00000263761	4217	https://pubmed.ncbi.nlm.nih.gov/?term=GDF2	None	None	5386	895
GDF3	growth differentiation factor 3	Microphthalmia, isolated, with coloboma 6?0015692;Klippel-Feil syndrome?0010280;Microphthalmia, isolated, with coloboma?0003644;Isolated microphthalmia 7?0024917;Klippel-Feil syndrome 3, autosomal dominant?0015691	https://raresource.nih.gov/literature/gene/GDF3	9573	ENSG00000184344	4218	https://pubmed.ncbi.nlm.nih.gov/?term=GDF3	None	None	3499	165
GDF5	growth differentiation factor 5	Grebe syndrome?0001300;Brachydactyly type A1C?0015903;Type A2 brachydactyly?0000979;Multiple synostosis syndrome?0003836;Acromesomelic dysplasia 2C, Hunter-Thompson type?0000506;Acromesomelic dysplasia 2B?0009879;Angel-shaped phalango-epiphyseal dysplasia?0000671;Multiple synostoses syndrome 2?0009916;Proximal symphalangism?0008182;Brachydactyly type C?0000986;Symphalangism, proximal, 1B?0015942	https://raresource.nih.gov/literature/gene/GDF5	8200	ENSG00000125965	4220	https://pubmed.ncbi.nlm.nih.gov/?term=GDF5	None	None	6438	773
GDF6	growth differentiation factor 6	Microphthalmia, isolated, with coloboma 6?0015692;Klippel-Feil syndrome?0010280;Leber congenital amaurosis 17?0015950;Isolated microphthalmia 4?0024901;Multiple synostosis syndrome?0003836;Multiple synostoses syndrome 4?0025968;Leber congenital amaurosis?0000634;Klippel-Feil syndrome 1, autosomal dominant?0015049	https://raresource.nih.gov/literature/gene/GDF6	392255	ENSG00000156466	4221	https://pubmed.ncbi.nlm.nih.gov/?term=GDF6	None	None	8667	197
GDF9	growth differentiation factor 9	Premature ovarian failure 14?0025909	https://raresource.nih.gov/literature/gene/GDF9	2661	ENSG00000164404	4224	https://pubmed.ncbi.nlm.nih.gov/?term=GDF9	None	None	2919	1196
GDI1	GDP dissociation inhibitor 1	Non-syndromic X-linked intellectual disability?0018640;Intellectual disability, X-linked 41?0022689	https://raresource.nih.gov/literature/gene/GDI1	2664	ENSG00000203879	4226	https://pubmed.ncbi.nlm.nih.gov/?term=GDI1	None	None	1796	915
GEMIN5	gem nuclear organelle associated protein 5	Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/GEMIN5	25929	ENSG00000082516	20043	https://pubmed.ncbi.nlm.nih.gov/?term=GEMIN5	None	None	20227	89
GET3	guided entry of tail-anchored proteins factor 3, ATPase	Cardiomyopathy, dilated, 2H?0026714;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/GET3	439	ENSG00000198356	752	https://pubmed.ncbi.nlm.nih.gov/?term=GET3	None	None	4548	149
GET4	guided entry of tail-anchored proteins factor 4	Congenital disorder of glycosylation, type IIy?0026712	https://raresource.nih.gov/literature/gene/GET4	51608	ENSG00000239857	21690	https://pubmed.ncbi.nlm.nih.gov/?term=GET4	None	None	6022	64
GFAP	glial fibrillary acidic protein	Alexander disease?0005774;Alexander disease type I?0017572;Alexander disease type II?0017573	https://raresource.nih.gov/literature/gene/GFAP	2670	ENSG00000131095	4235	https://pubmed.ncbi.nlm.nih.gov/?term=GFAP	None	None	3903	29280
GFER	growth factor, augmenter of liver regeneration	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome?0010522	https://raresource.nih.gov/literature/gene/GFER	2671	ENSG00000127554	4236	https://pubmed.ncbi.nlm.nih.gov/?term=GFER	None	None	1489	805
GFI1	growth factor independent 1 transcriptional repressor	Neutropenia, severe congenital, 2, autosomal dominant?0015616;Nonimmune chronic idiopathic neutropenia of adults?0016605;Autosomal dominant severe congenital neutropenia?0009558	https://raresource.nih.gov/literature/gene/GFI1	2672	ENSG00000162676	4237	https://pubmed.ncbi.nlm.nih.gov/?term=GFI1	None	None	6794	619
GFI1B	growth factor independent 1B transcriptional repressor	Storage pool disease of platelets?0005034;Autosomal dominant macrothrombocytopenia?0016965;Platelet-type bleeding disorder 17?0015117	https://raresource.nih.gov/literature/gene/GFI1B	8328	ENSG00000165702	4238	https://pubmed.ncbi.nlm.nih.gov/?term=GFI1B	None	None	18686	186
GFM1	G elongation factor mitochondrial 1	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1?0016949	https://raresource.nih.gov/literature/gene/GFM1	85476	ENSG00000168827	13780	https://pubmed.ncbi.nlm.nih.gov/?term=GFM1	None	None	19698	547
GFM2	GTP dependent ribosome recycling factor mitochondrial 2	Combined oxidative phosphorylation deficiency 39?0017999	https://raresource.nih.gov/literature/gene/GFM2	84340	ENSG00000164347	29682	https://pubmed.ncbi.nlm.nih.gov/?term=GFM2	None	None	16328	211
GFPT1	glutamine--fructose-6-phosphate transaminase 1	Congenital myasthenic syndrome 4C?0010108;Congenital myasthenic syndrome 12?0018451	https://raresource.nih.gov/literature/gene/GFPT1	2673	ENSG00000198380	4241	https://pubmed.ncbi.nlm.nih.gov/?term=GFPT1	None	None	28222	639
GFRA1	GDNF family receptor alpha 1	Bilateral renal agenesis?0016579;Renal hypodysplasia/aplasia 4?0025644	https://raresource.nih.gov/literature/gene/GFRA1	2674	ENSG00000151892	4243	https://pubmed.ncbi.nlm.nih.gov/?term=GFRA1	None	None	75574	462
GGCX	gamma-glutamyl carboxylase	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency?0016796;Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa?0021820;Vitamin K-dependent clotting factors, combined deficiency of, type 1?0018195	https://raresource.nih.gov/literature/gene/GGCX	2677	ENSG00000115486	4247	https://pubmed.ncbi.nlm.nih.gov/?term=GGCX	None	None	6898	257
GGN	gametogenetin	Male infertility due to globozoospermia?0012502	https://raresource.nih.gov/literature/gene/GGN	199720	ENSG00000179168	18869	https://pubmed.ncbi.nlm.nih.gov/?term=GGN	None	None	2100	20
GGT1	gamma-glutamyltransferase 1	Gamma-Glutamyltransferase deficiency?0010099	https://raresource.nih.gov/literature/gene/GGT1	2678	ENSG00000100031	4250	https://pubmed.ncbi.nlm.nih.gov/?term=GGT1	None	None	17331	7064
GH1	growth hormone 1	Ateleiotic dwarfism?0007399;Short stature due to growth hormone qualitative anomaly?0000408;Isolated growth hormone deficiency type IB?0003919;Autosomal dominant isolated somatotropin deficiency?0001696	https://raresource.nih.gov/literature/gene/GH1	2688	ENSG00000259384	4261	https://pubmed.ncbi.nlm.nih.gov/?term=GH1	None	None	1434	38516
GHR	growth hormone receptor	Laron-type isolated somatotropin defect?0006859;Short stature due to partial GHR deficiency?0017435	https://raresource.nih.gov/literature/gene/GHR	2690	ENSG00000112964	4263	https://pubmed.ncbi.nlm.nih.gov/?term=GHR	None	None	111472	1
GHRHR	growth hormone releasing hormone receptor	Isolated growth hormone deficiency, type 4?0025703	https://raresource.nih.gov/literature/gene/GHRHR	2692	ENSG00000106128	4266	https://pubmed.ncbi.nlm.nih.gov/?term=GHRHR	None	None	21252	551
GHRL	ghrelin and obestatin prepropeptide	Inherited obesity?0018935	https://raresource.nih.gov/literature/gene/GHRL	51738	ENSG00000157017	18129	https://pubmed.ncbi.nlm.nih.gov/?term=GHRL	None	None	4354	567
GHSR	growth hormone secretagogue receptor	Short stature due to growth hormone secretagogue receptor deficiency?0017436	https://raresource.nih.gov/literature/gene/GHSR	2693	ENSG00000121853	4267	https://pubmed.ncbi.nlm.nih.gov/?term=GHSR	None	None	3518	2538
GINS1	GINS complex subunit 1	Combined immunodeficiency due to GINS1 deficiency?0017941	https://raresource.nih.gov/literature/gene/GINS1	9837	ENSG00000101003	28980	https://pubmed.ncbi.nlm.nih.gov/?term=GINS1	None	None	16089	128
GIPC1	GIPC PDZ domain containing family member 1	Oculopharyngodistal myopathy 2?0016397;Oculopharyngodistal myopathy?0012592	https://raresource.nih.gov/literature/gene/GIPC1	10755	ENSG00000123159	1226	https://pubmed.ncbi.nlm.nih.gov/?term=GIPC1	None	None	9110	346
GIPC3	GIPC PDZ domain containing family member 3	Autosomal recessive nonsyndromic hearing loss 15?0022591;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/GIPC3	126326	ENSG00000179855	18183	https://pubmed.ncbi.nlm.nih.gov/?term=GIPC3	None	None	3716	41
GJA1	gap junction protein alpha 1	Autosomal dominant palmoplantar keratoderma and congenital alopecia?0000604;Erythrokeratodermia variabilis?0016528;Oculodentodigital dysplasia, autosomal recessive?0015213;Syndactyly type 3?0005088;Craniometaphyseal dysplasia?0015013;Oculodentodigital dysplasia?0007239;Erythrokeratodermia variabilis et progressiva 3?0018589;Craniometaphyseal dysplasia, autosomal recessive?0001582	https://raresource.nih.gov/literature/gene/GJA1	2697	ENSG00000152661	4274	https://pubmed.ncbi.nlm.nih.gov/?term=GJA1	None	None	7718	8932
GJA3	gap junction protein alpha 3	Posterior subcapsular cataract?0016889;Pulverulent cataract?0016884;Cataract 14 multiple types?0024777;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/GJA3	2700	ENSG00000121743	4277	https://pubmed.ncbi.nlm.nih.gov/?term=GJA3	None	None	7348	363
GJA5	gap junction protein alpha 5	Atrial standstill 1?0018611;Tetralogy of Fallot?0002245;Familial atrial fibrillation?0009740;Atrial fibrillation, familial, 11?0015747;Chromosome 1q21.1 deletion syndrome?0010813	https://raresource.nih.gov/literature/gene/GJA5	2702	ENSG00000265107	4279	https://pubmed.ncbi.nlm.nih.gov/?term=GJA5	None	None	7888	1027
GJA8	gap junction protein alpha 8	Congenital total cataract?0001159;Cataract - microcornea syndrome?0001155;Early-onset sutural cataract?0016885;Sclerocornea?0016800;Pulverulent cataract?0016884;Cataract 1 multiple types?0015047;Early-onset nuclear cataract?0016887;Chromosome 1q21.1 deletion syndrome?0010813	https://raresource.nih.gov/literature/gene/GJA8	2703	ENSG00000121634	4281	https://pubmed.ncbi.nlm.nih.gov/?term=GJA8	None	None	2280	647
GJB1	gap junction protein beta 1	Charcot-Marie-Tooth disease X-linked dominant 1?0001258	https://raresource.nih.gov/literature/gene/GJB1	2705	ENSG00000169562	4283	https://pubmed.ncbi.nlm.nih.gov/?term=GJB1	None	None	3818	1499
GJB2	gap junction protein beta 2	Hearing loss, autosomal recessive?0018117;Palmoplantar keratoderma-deafness syndrome?0003094;Porokeratotic eccrine ostial and dermal duct nevus?0020070;Knuckle pads, deafness AND leukonychia syndrome?0003125;Autosomal recessive nonsyndromic hearing loss 1A?0001697;Autosomal dominant nonsyndromic hearing loss?0016791;Autosomal dominant keratitis-ichthyosis-hearing loss syndrome?0024581;Autosomal dominant nonsyndromic hearing loss 3A?0009933;Ichthyosis, hystrix-like, with hearing loss?0015349;Mutilating keratoderma?0003092;Keratitis ichthyosis and deafness syndrome?0003113	https://raresource.nih.gov/literature/gene/GJB2	2706	ENSG00000165474	4284	https://pubmed.ncbi.nlm.nih.gov/?term=GJB2	None	None	2680	3838
GJB3	gap junction protein beta 3	Hearing loss, autosomal recessive?0018117;Erythrokeratodermia variabilis?0016528;Autosomal recessive nonsyndromic hearing loss 1A?0001697;Autosomal dominant nonsyndromic hearing loss?0016791;Neuropathy with hearing impairment?0019919;Autosomal dominant nonsyndromic hearing loss 2B?0018131;Erythrokeratodermia variabilis et progressiva 1?0025782	https://raresource.nih.gov/literature/gene/GJB3	2707	ENSG00000188910	4285	https://pubmed.ncbi.nlm.nih.gov/?term=GJB3	None	None	3171	432
GJB4	gap junction protein beta 4	Erythrokeratodermia variabilis?0016528;Erythrokeratodermia variabilis et progressiva 2?0018588	https://raresource.nih.gov/literature/gene/GJB4	127534	ENSG00000189433	4286	https://pubmed.ncbi.nlm.nih.gov/?term=GJB4	None	None	2253	108
GJB6	gap junction protein beta 6	Hearing loss, autosomal recessive?0018117;Autosomal dominant nonsyndromic hearing loss?0016791;Autosomal recessive nonsyndromic hearing loss 1A?0001697;Autosomal dominant nonsyndromic hearing loss 3B?0018130;Hidrotic ectodermal dysplasia syndrome?0002056;Keratitis ichthyosis and deafness syndrome?0003113;Autosomal recessive nonsyndromic hearing loss 1B?0022629	https://raresource.nih.gov/literature/gene/GJB6	10804	ENSG00000121742	4288	https://pubmed.ncbi.nlm.nih.gov/?term=GJB6	None	None	4594	1182
GJC2	gap junction protein gamma 2	Lymphatic malformation 3?0016456;Hypomyelinating leukodystrophy 2?0017293;Hereditary spastic paraplegia 44?0017478;GJC2-related late-onset primary lymphedema?0022299	https://raresource.nih.gov/literature/gene/GJC2	57165	ENSG00000198835	17494	https://pubmed.ncbi.nlm.nih.gov/?term=GJC2	None	None	5502	194
GK	glycerol kinase	Glycerol kinase deficiency, juvenile form?0017316;Glycerol kinase deficiency, adult form?0017317;Inborn glycerol kinase deficiency?0021311	https://raresource.nih.gov/literature/gene/GK	2710	ENSG00000198814	4289	https://pubmed.ncbi.nlm.nih.gov/?term=GK	None	None	14600	2326
GLA	galactosidase alpha	Fabry disease?0006400	https://raresource.nih.gov/literature/gene/GLA	2717	ENSG00000102393	4296	https://pubmed.ncbi.nlm.nih.gov/?term=GLA	None	None	2628	4463
GLB1	galactosidase beta 1	GM1 gangliosidosis type 2?0010126;Infantile GM1 gangliosidosis?0006479;GM1 gangliosidosis?0010891;Mucopolysaccharidosis, MPS-IV-B?0003786;GM1 gangliosidosis type 3?0002431	https://raresource.nih.gov/literature/gene/GLB1	2720	ENSG00000170266	4298	https://pubmed.ncbi.nlm.nih.gov/?term=GLB1	None	None	42272	17008
GLDC	glycine decarboxylase	Infantile glycine encephalopathy?0017333;Neonatal glycine encephalopathy?0017332;Glycine encephalopathy 1?0026956	https://raresource.nih.gov/literature/gene/GLDC	2731	ENSG00000178445	4313	https://pubmed.ncbi.nlm.nih.gov/?term=GLDC	None	None	61099	433
GLDN	gliomedin	Lethal congenital contracture syndrome 11?0013220	https://raresource.nih.gov/literature/gene/GLDN	342035	ENSG00000186417	29514	https://pubmed.ncbi.nlm.nih.gov/?term=GLDN	None	None	17092	119
GLE1	GLE1 RNA export mediator	Lethal congenital contracture syndrome 1?0003227;Amyotrophic lateral sclerosis?0005786;Lethal arthrogryposis-anterior horn cell disease syndrome?0016658	https://raresource.nih.gov/literature/gene/GLE1	2733	ENSG00000119392	4315	https://pubmed.ncbi.nlm.nih.gov/?term=GLE1	None	None	17429	109
GLI1	GLI family zinc finger 1	Postaxial polydactyly type A?0016817;Polydactyly, postaxial, type A8?0016293;Polydactyly of a biphalangeal thumb?0004417;Postaxial polydactyly type B?0016818	https://raresource.nih.gov/literature/gene/GLI1	2735	ENSG00000111087	4317	https://pubmed.ncbi.nlm.nih.gov/?term=GLI1	None	None	5891	4246
GLI2	GLI family zinc finger 2	Lobar holoprosencephaly?0016830;Microform holoprosencephaly?0017290;Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome?0013349;Holoprosencephaly 9?0024875;Alobar holoprosencephaly?0016831;Combined pituitary hormone deficiencies, genetic form?0010602	https://raresource.nih.gov/literature/gene/GLI2	2736	ENSG00000074047	4318	https://pubmed.ncbi.nlm.nih.gov/?term=GLI2	None	None	97265	1485
GLI3	GLI family zinc finger 3	Polydactyly, postaxial, type A1?0004414;Polysyndactyly 4?0009903;Greig cephalopolysyndactyly syndrome?0006550;Tibial hemimelia?0008707;Postaxial polydactyly type A?0016817;Postaxial polydactyly type B?0016818;Pallister-Hall syndrome?0007305	https://raresource.nih.gov/literature/gene/GLI3	2737	ENSG00000106571	4319	https://pubmed.ncbi.nlm.nih.gov/?term=GLI3	None	None	114881	1624
GLIS1	GLIS family zinc finger 1	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/GLIS1	148979	ENSG00000174332	29525	https://pubmed.ncbi.nlm.nih.gov/?term=GLIS1	None	None	78232	84
GLIS2	GLIS family zinc finger 2	Nephronophthisis 7?0024879	https://raresource.nih.gov/literature/gene/GLIS2	84662	ENSG00000126603	29450	https://pubmed.ncbi.nlm.nih.gov/?term=GLIS2	None	None	8153	200
GLIS3	GLIS family zinc finger 3	Neonatal diabetes mellitus with congenital hypothyroidism?0016699	https://raresource.nih.gov/literature/gene/GLIS3	169792	ENSG00000107249	28510	https://pubmed.ncbi.nlm.nih.gov/?term=GLIS3	None	None	249783	592
GLMN	glomulin, FKBP associated protein	Glomuvenous malformation?0016728	https://raresource.nih.gov/literature/gene/GLMN	11146	ENSG00000174842	14373	https://pubmed.ncbi.nlm.nih.gov/?term=GLMN	None	None	21802	2246
GLRA1	glycine receptor alpha 1	Hyperekplexia 1?0024583;Hereditary hyperekplexia?0003129	https://raresource.nih.gov/literature/gene/GLRA1	2741	ENSG00000145888	4326	https://pubmed.ncbi.nlm.nih.gov/?term=GLRA1	None	None	40087	171
GLRA2	glycine receptor alpha 2	Intellectual developmental disorder, X-linked, syndromic, Pilorge type?0025464	https://raresource.nih.gov/literature/gene/GLRA2	2742	ENSG00000101958	4327	https://pubmed.ncbi.nlm.nih.gov/?term=GLRA2	None	None	35012	183
GLRB	glycine receptor beta	Hereditary hyperekplexia?0003129;Hyperekplexia 2?0015826	https://raresource.nih.gov/literature/gene/GLRB	2743	ENSG00000109738	4329	https://pubmed.ncbi.nlm.nih.gov/?term=GLRB	None	None	37188	105
GLRX5	glutaredoxin 5	Spasticity-ataxia-gait anomalies syndrome?0012681;Sideroblastic anemia 3?0017235	https://raresource.nih.gov/literature/gene/GLRX5	51218	ENSG00000182512	20134	https://pubmed.ncbi.nlm.nih.gov/?term=GLRX5	None	None	3514	254
GLS	glutaminase	Glutaminase deficiency?0026291;Spastic ataxia-dysarthria due to glutaminase deficiency?0022247;Developmental and epileptic encephalopathy, 71?0017994	https://raresource.nih.gov/literature/gene/GLS	2744	ENSG00000115419	4331	https://pubmed.ncbi.nlm.nih.gov/?term=GLS	None	None	11669	3383
GLUD1	glutamate dehydrogenase 1	Hyperinsulinism-hyperammonemia syndrome?0009931	https://raresource.nih.gov/literature/gene/GLUD1	2746	ENSG00000148672	4335	https://pubmed.ncbi.nlm.nih.gov/?term=GLUD1	None	None	17792	3182
GLUL	glutamate-ammonia ligase	Congenital brain dysgenesis due to glutamine synthetase deficiency?0009848;Developmental and epileptic encephalopathy 116?0027088	https://raresource.nih.gov/literature/gene/GLUL	2752	ENSG00000135821	4341	https://pubmed.ncbi.nlm.nih.gov/?term=GLUL	None	None	6069	12835
GLYCTK	glycerate kinase	D-Glyceric aciduria?0000234	https://raresource.nih.gov/literature/gene/GLYCTK	132158	ENSG00000168237	24247	https://pubmed.ncbi.nlm.nih.gov/?term=GLYCTK	None	None	4863	78
GLYR1	glyoxylate reductase 1 homolog	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/GLYR1	84656	ENSG00000140632	24434	https://pubmed.ncbi.nlm.nih.gov/?term=GLYR1	None	None	16218	36
GM2A	ganglioside GM2 activator	Tay-Sachs disease, variant AB?0017406	https://raresource.nih.gov/literature/gene/GM2A	2760	ENSG00000196743	4367	https://pubmed.ncbi.nlm.nih.gov/?term=GM2A	None	None	7747	218
GMNN	geminin DNA replication inhibitor	Meier-Gorlin syndrome?0002033;Meier-Gorlin syndrome 6?0016163	https://raresource.nih.gov/literature/gene/GMNN	51053	ENSG00000112312	17493	https://pubmed.ncbi.nlm.nih.gov/?term=GMNN	None	None	5136	671
GMPPA	GDP-mannose pyrophosphorylase A	Alacrima, achalasia, and intellectual disability syndrome?0012404	https://raresource.nih.gov/literature/gene/GMPPA	29926	ENSG00000144591	22923	https://pubmed.ncbi.nlm.nih.gov/?term=GMPPA	None	None	4320	20
GMPPB	GDP-mannose pyrophosphorylase B	Myopathy caused by variation in GMPPB?0026352;Autosomal recessive limb-girdle muscular dystrophy type 2T?0012544;Muscle eye brain disease?0000156;Congenital muscular dystrophy with intellectual disability?0017606;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14?0024976;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14?0015948	https://raresource.nih.gov/literature/gene/GMPPB	29925	ENSG00000173540	22932	https://pubmed.ncbi.nlm.nih.gov/?term=GMPPB	None	None	1527	94
GNA11	G protein subunit alpha 11	Autosomal dominant hypocalcemia?0002877;Autosomal dominant hypocalcemia 2?0015951;Anastomosing haemangioma?0027219;Familial hypocalciuric hypercalcemia 2?0009758;Congenital livedo reticularis?0006228;Phakomatosis cesioflammea?0019023;Uveal melanoma?0008621;Phakomatosis cesiomarmorata?0019024	https://raresource.nih.gov/literature/gene/GNA11	2767	ENSG00000088256	4379	https://pubmed.ncbi.nlm.nih.gov/?term=GNA11	None	None	14700	653
GNA14	G protein subunit alpha 14	Tufted angioma of skin?0000425;Anastomosing haemangioma?0027219;Kaposiform hemangioendothelioma?0003077	https://raresource.nih.gov/literature/gene/GNA14	9630	ENSG00000156049	4382	https://pubmed.ncbi.nlm.nih.gov/?term=GNA14	None	None	89702	36
GNAI1	G protein subunit alpha i1	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities?0027310	https://raresource.nih.gov/literature/gene/GNAI1	2770	ENSG00000127955	4384	https://pubmed.ncbi.nlm.nih.gov/?term=GNAI1	None	None	77150	3099
GNAI2	G protein subunit alpha i2	Familial ventricular tachycardia?0002263	https://raresource.nih.gov/literature/gene/GNAI2	2771	ENSG00000114353	4385	https://pubmed.ncbi.nlm.nih.gov/?term=GNAI2	None	None	12345	4386
GNAI3	G protein subunit alpha i3	Auriculocondylar syndrome?0009798;Auriculocondylar syndrome 1?0015346	https://raresource.nih.gov/literature/gene/GNAI3	2773	ENSG00000065135	4387	https://pubmed.ncbi.nlm.nih.gov/?term=GNAI3	None	None	18783	119
GNAL	G protein subunit alpha L	Dystonia 25?0010667	https://raresource.nih.gov/literature/gene/GNAL	2774	ENSG00000141404	4388	https://pubmed.ncbi.nlm.nih.gov/?term=GNAL	None	None	49384	145
GNAO1	G protein subunit alpha o1	Neurodevelopmental disorder with involuntary movements?0016232;GNAO1-related developmental delay-seizures-movement disorder spectrum?0022369;Developmental and epileptic encephalopathy, 17?0013378	https://raresource.nih.gov/literature/gene/GNAO1	2775	ENSG00000087258	4389	https://pubmed.ncbi.nlm.nih.gov/?term=GNAO1	None	None	38100	1510
GNAQ	G protein subunit alpha q	Sturge-Weber syndrome?0007706;Anastomosing haemangioma?0027219;Familial multiple nevi flammei?0003986;Phakomatosis cesioflammea?0019023;Uveal melanoma?0008621	https://raresource.nih.gov/literature/gene/GNAQ	2776	ENSG00000156052	4390	https://pubmed.ncbi.nlm.nih.gov/?term=GNAQ	None	None	118755	1128
GNAS	GNAS complex locus	Pseudohypoparathyroidism type 1B?0010680;Cushing syndrome due to macronodular adrenal hyperplasia?0010824;Pseudohypoparathyroidism type 1C?0010681;ACTH-independent macronodular adrenal hyperplasia 1?0025230;McCune-Albright syndrome?0006995;Pituitary adenoma 3, multiple types?0025957;Monostotic fibrous dysplasia?0019181;Polyostotic fibrous dysplasia of bone?0004213;Pseudopseudohypoparathyroidism?0007860;Pseudohypoparathyroidism type I A?0007486;Progressive osseous heteroplasia?0000109	https://raresource.nih.gov/literature/gene/GNAS	2778	ENSG00000087460	4392	https://pubmed.ncbi.nlm.nih.gov/?term=GNAS	None	None	29209	2843
GNAS-AS1	GNAS antisense RNA 1	Pseudohypoparathyroidism type 1B?0010680	https://raresource.nih.gov/literature/gene/GNAS-AS1	149775	ENSG00000235590	24872	https://pubmed.ncbi.nlm.nih.gov/?term=GNAS-AS1	None	None	5648	92
GNAT1	G protein subunit alpha transducin 1	Congenital stationary night blindness?0025068;Congenital stationary night blindness autosomal dominant 3?0015487;Congenital stationary night blindness 1G?0016099	https://raresource.nih.gov/literature/gene/GNAT1	2779	ENSG00000114349	4393	https://pubmed.ncbi.nlm.nih.gov/?term=GNAT1	None	None	4006	129
GNAT2	G protein subunit alpha transducin 2	Achromatopsia?0015015;Achromatopsia 4?0015723;GNAT2-related retinopathy?0026542;Cone dystrophy?0011897	https://raresource.nih.gov/literature/gene/GNAT2	2780	ENSG00000134183	4394	https://pubmed.ncbi.nlm.nih.gov/?term=GNAT2	None	None	4889	151
GNB1	G protein subunit beta 1	Myelodysplastic syndrome?0007132;Acute lymphoid leukemia?0000522;Intellectual disability, autosomal dominant 42?0018501	https://raresource.nih.gov/literature/gene/GNB1	2782	ENSG00000078369	4396	https://pubmed.ncbi.nlm.nih.gov/?term=GNB1	None	None	49900	202
GNB2	G protein subunit beta 2	Sick sinus syndrome 4?0026663;Familial sick sinus syndrome?0013663	https://raresource.nih.gov/literature/gene/GNB2	2783	ENSG00000172354	4398	https://pubmed.ncbi.nlm.nih.gov/?term=GNB2	None	None	3397	65
GNB3	G protein subunit beta 3	Congenital stationary night blindness?0025068;Congenital stationary night blindness 1H?0016177	https://raresource.nih.gov/literature/gene/GNB3	2784	ENSG00000111664	4400	https://pubmed.ncbi.nlm.nih.gov/?term=GNB3	None	None	2314	557
GNB4	G protein subunit beta 4	Charcot-Marie-Tooth disease dominant intermediate F?0009206	https://raresource.nih.gov/literature/gene/GNB4	59345	ENSG00000114450	20731	https://pubmed.ncbi.nlm.nih.gov/?term=GNB4	None	None	21746	69
GNB5	G protein subunit beta 5	Gnb5-related intellectual disability-cardiac arrhythmia syndrome?0017982	https://raresource.nih.gov/literature/gene/GNB5	10681	ENSG00000069966	4401	https://pubmed.ncbi.nlm.nih.gov/?term=GNB5	None	None	21277	6
GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	GNE myopathy?0009493;Sialuria?0004865;Thrombocytopenia 12 with or without myopathy?0027007	https://raresource.nih.gov/literature/gene/GNE	10020	ENSG00000159921	23657	https://pubmed.ncbi.nlm.nih.gov/?term=GNE	None	None	27064	575
GNMT	glycine N-methyltransferase	Glycine N-methyltransferase deficiency?0010764	https://raresource.nih.gov/literature/gene/GNMT	27232	ENSG00000124713	4415	https://pubmed.ncbi.nlm.nih.gov/?term=GNMT	None	None	2227	339
GNPAT	glyceronephosphate O-acyltransferase	Glyceronephosphate O-acyltransferase deficiency?0026115;Rhizomelic chondrodysplasia punctata type 2?0009429	https://raresource.nih.gov/literature/gene/GNPAT	8443	ENSG00000116906	4416	https://pubmed.ncbi.nlm.nih.gov/?term=GNPAT	None	None	14150	218
GNPNAT1	glucosamine-phosphate N-acetyltransferase 1	Rhizomelic dysplasia, Ain-Naz type?0026667	https://raresource.nih.gov/literature/gene/GNPNAT1	64841	ENSG00000100522	19980	https://pubmed.ncbi.nlm.nih.gov/?term=GNPNAT1	None	None	4733	96
GNPTAB	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	Pseudo-Hurler polydystrophy?0017704;Mucolipidosis type II?0006749;GNPTAB-mucolipidosis?0026054	https://raresource.nih.gov/literature/gene/GNPTAB	79158	ENSG00000111670	29670	https://pubmed.ncbi.nlm.nih.gov/?term=GNPTAB	None	None	22242	438
GNPTG	N-acetylglucosamine-1-phosphate transferase subunit gamma	GNPTG-mucolipidosis?0017705	https://raresource.nih.gov/literature/gene/GNPTG	84572	ENSG00000090581	23026	https://pubmed.ncbi.nlm.nih.gov/?term=GNPTG	None	None	4807	68
GNRH1	gonadotropin releasing hormone 1	Hypogonadotropic hypogonadism 12 with or without anosmia?0000276;Hypogonadotropic hypogonadism?0016533	https://raresource.nih.gov/literature/gene/GNRH1	2796	ENSG00000147437	4419	https://pubmed.ncbi.nlm.nih.gov/?term=GNRH1	None	None	3055	24
GNRHR	gonadotropin releasing hormone receptor	Hypogonadotropic hypogonadism?0016533;Hypogonadotropic hypogonadism 7 with or without anosmia?0002897	https://raresource.nih.gov/literature/gene/GNRHR	2798	ENSG00000109163	4421	https://pubmed.ncbi.nlm.nih.gov/?term=GNRHR	None	None	6500	2208
GNS	glucosamine (N-acetyl)-6-sulfatase	Mucopolysaccharidosis, MPS-III-D?0007074	https://raresource.nih.gov/literature/gene/GNS	2799	ENSG00000135677	4422	https://pubmed.ncbi.nlm.nih.gov/?term=GNS	None	None	12719	109
GON7	GON7 subunit of KEOPS complex	Galloway-Mowat syndrome?0000065;Galloway-Mowat syndrome 9?0025570	https://raresource.nih.gov/literature/gene/GON7	84520	ENSG00000170270	20356	https://pubmed.ncbi.nlm.nih.gov/?term=GON7	None	None	1659	22
GORAB	golgin, RAB6 interacting	Geroderma osteodysplastica?0000413	https://raresource.nih.gov/literature/gene/GORAB	92344	ENSG00000120370	25676	https://pubmed.ncbi.nlm.nih.gov/?term=GORAB	None	None	9149	1160
GOSR2	golgi SNAP receptor complex member 2	Progressive myoclonic epilepsy type 6?0003872	https://raresource.nih.gov/literature/gene/GOSR2	9570	ENSG00000108433	4431	https://pubmed.ncbi.nlm.nih.gov/?term=GOSR2	None	None	11731	137
GOT2	glutamic-oxaloacetic transaminase 2	Developmental and epileptic encephalopathy, 82?0025765	https://raresource.nih.gov/literature/gene/GOT2	2806	ENSG00000125166	4433	https://pubmed.ncbi.nlm.nih.gov/?term=GOT2	None	None	7956	1523
GP1BA	glycoprotein Ib platelet subunit alpha	Bernard-Soulier syndrome, type A2, autosomal dominant?0015082;Pseudo von Willebrand disease?0008312;Bernard Soulier syndrome?0002470;Autosomal dominant macrothrombocytopenia?0016965	https://raresource.nih.gov/literature/gene/GP1BA	2811	ENSG00000185245	4439	https://pubmed.ncbi.nlm.nih.gov/?term=GP1BA	None	None	1304	88
GP1BB	glycoprotein Ib platelet subunit beta	Bernard Soulier syndrome?0002470;Autosomal dominant macrothrombocytopenia?0016965	https://raresource.nih.gov/literature/gene/GP1BB	2812	ENSG00000203618	4440	https://pubmed.ncbi.nlm.nih.gov/?term=GP1BB	None	None	2742	312
GP6	glycoprotein VI platelet	Platelet-type bleeding disorder 11?0013293	https://raresource.nih.gov/literature/gene/GP6	51206	ENSG00000088053	14388	https://pubmed.ncbi.nlm.nih.gov/?term=GP6	None	None	12902	1707
GP9	glycoprotein IX platelet	Bernard Soulier syndrome?0002470	https://raresource.nih.gov/literature/gene/GP9	2815	ENSG00000169704	4444	https://pubmed.ncbi.nlm.nih.gov/?term=GP9	None	None	2079	445
GPAA1	glycosylphosphatidylinositol anchor attachment 1	Glycosylphosphatidylinositol biosynthesis defect 15?0017969	https://raresource.nih.gov/literature/gene/GPAA1	8733	ENSG00000197858	4446	https://pubmed.ncbi.nlm.nih.gov/?term=GPAA1	None	None	3538	86
GPC3	glypican 3	Simpson-Golabi-Behmel syndrome type 1?0025185;Simpson-Golabi-Behmel syndrome?0007649;Wilms tumor 1?0015124	https://raresource.nih.gov/literature/gene/GPC3	2719	ENSG00000147257	4451	https://pubmed.ncbi.nlm.nih.gov/?term=GPC3	None	None	73067	1798
GPC4	glypican 4	Simpson-Golabi-Behmel syndrome type 1?0025185;Keipert syndrome?0000267;Wilms tumor 1?0015124	https://raresource.nih.gov/literature/gene/GPC4	2239	ENSG00000076716	4452	https://pubmed.ncbi.nlm.nih.gov/?term=GPC4	None	None	20361	192
GPC6	glypican 6	Autosomal recessive omodysplasia?0004076	https://raresource.nih.gov/literature/gene/GPC6	10082	ENSG00000183098	4454	https://pubmed.ncbi.nlm.nih.gov/?term=GPC6	None	None	302455	116
GPD1	glycerol-3-phosphate dehydrogenase 1	Transient infantile hypertriglyceridemia and hepatosteatosis?0017363	https://raresource.nih.gov/literature/gene/GPD1	2819	ENSG00000167588	4455	https://pubmed.ncbi.nlm.nih.gov/?term=GPD1	None	None	2402	610
GPD1L	glycerol-3-phosphate dehydrogenase 1 like	Brugada syndrome 2?0015526	https://raresource.nih.gov/literature/gene/GPD1L	23171	ENSG00000152642	28956	https://pubmed.ncbi.nlm.nih.gov/?term=GPD1L	None	None	24825	84
GPHN	gephyrin	Hyperekplexia 1?0024583;Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C?0017388;Hereditary hyperekplexia?0003129	https://raresource.nih.gov/literature/gene/GPHN	10243	ENSG00000171723	15465	https://pubmed.ncbi.nlm.nih.gov/?term=GPHN	None	None	163430	875
GPI	glucose-6-phosphate isomerase	Hemolytic anemia due to glucophosphate isomerase deficiency?0016541	https://raresource.nih.gov/literature/gene/GPI	2821	ENSG00000105220	4458	https://pubmed.ncbi.nlm.nih.gov/?term=GPI	None	None	11981	6959
GPIHBP1	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	Hyperlipoproteinemia, type 1D?0017973	https://raresource.nih.gov/literature/gene/GPIHBP1	338328	ENSG00000277494	24945	https://pubmed.ncbi.nlm.nih.gov/?term=GPIHBP1	None	None	4846	304
GPKOW	G-patch domain and KOW motifs	Holoprosencephaly-hypokinesia-congenital contractures syndrome?0003788	https://raresource.nih.gov/literature/gene/GPKOW	27238	ENSG00000068394	30677	https://pubmed.ncbi.nlm.nih.gov/?term=GPKOW	None	None	4227	72
GPNMB	glycoprotein nmb	Amyloidosis, primary localized cutaneous, 3?0025971;Amyloidosis cutis dyschromia?0017466	https://raresource.nih.gov/literature/gene/GPNMB	10457	ENSG00000136235	4462	https://pubmed.ncbi.nlm.nih.gov/?term=GPNMB	None	None	15747	1004
GPR101	G protein-coupled receptor 101	Pituitary adenoma, growth hormone-secreting, 2?0015274;X-linked acrogigantism due to Xq26 microduplication?0018433	https://raresource.nih.gov/literature/gene/GPR101	83550	ENSG00000165370	14963	https://pubmed.ncbi.nlm.nih.gov/?term=GPR101	None	None	1860	96
GPR143	G protein-coupled receptor 143	Ocular albinism, type I?0008471	https://raresource.nih.gov/literature/gene/GPR143	4935	ENSG00000101850	20145	https://pubmed.ncbi.nlm.nih.gov/?term=GPR143	None	None	5159	235
GPR156	G protein-coupled receptor 156	Hearing loss, autosomal recessive 121?0026883	https://raresource.nih.gov/literature/gene/GPR156	165829	ENSG00000175697	20844	https://pubmed.ncbi.nlm.nih.gov/?term=GPR156	None	None	39686	21
GPR161	G protein-coupled receptor 161	Medulloblastoma?0007005;Pituitary stalk interruption syndrome?0013209	https://raresource.nih.gov/literature/gene/GPR161	23432	ENSG00000143147	23694	https://pubmed.ncbi.nlm.nih.gov/?term=GPR161	None	None	22435	137
GPR179	G protein-coupled receptor 179	Congenital stationary night blindness?0025068;GPR179-related retinopathy?0026546;Congenital stationary night blindness 1E?0015816	https://raresource.nih.gov/literature/gene/GPR179	440435	ENSG00000277399	31371	https://pubmed.ncbi.nlm.nih.gov/?term=GPR179	None	None	6483	51
GPR68	G protein-coupled receptor 68	Amelogenesis imperfecta, hypomaturation type, IIa6?0016211;Amelogenesis imperfecta type 2?0008349	https://raresource.nih.gov/literature/gene/GPR68	8111	ENSG00000119714	4519	https://pubmed.ncbi.nlm.nih.gov/?term=GPR68	None	None	6288	260
GPRASP2	G protein-coupled receptor associated sorting protein 2	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome?0017926	https://raresource.nih.gov/literature/gene/GPRASP2	114928	ENSG00000158301	25169	https://pubmed.ncbi.nlm.nih.gov/?term=GPRASP2	None	None	1423	28
GPSM2	G protein signaling modulator 2	Hearing loss, autosomal recessive?0018117;Chudley-McCullough syndrome?0000086	https://raresource.nih.gov/literature/gene/GPSM2	29899	ENSG00000121957	29501	https://pubmed.ncbi.nlm.nih.gov/?term=GPSM2	None	None	23028	362
GPT2	glutamic--pyruvic transaminase 2	Glutamate pyruvate transaminase 2 deficiency?0017853	https://raresource.nih.gov/literature/gene/GPT2	84706	ENSG00000166123	18062	https://pubmed.ncbi.nlm.nih.gov/?term=GPT2	None	None	12680	200
GPX1	glutathione peroxidase 1	Gluthathione peroxidase deficiency?0024936	https://raresource.nih.gov/literature/gene/GPX1	2876	ENSG00000233276	4553	https://pubmed.ncbi.nlm.nih.gov/?term=GPX1	None	None	930	3135
GPX4	glutathione peroxidase 4	Spondylometaphyseal dysplasia, Sedaghatian type?0004993	https://raresource.nih.gov/literature/gene/GPX4	2879	ENSG00000167468	4556	https://pubmed.ncbi.nlm.nih.gov/?term=GPX4	None	None	2294	8570
GRAP	GRB2 related adaptor protein	Hearing loss, autosomal recessive?0018117;Hearing loss, autosomal recessive 114?0022662	https://raresource.nih.gov/literature/gene/GRAP	10750	ENSG00000154016	4562	https://pubmed.ncbi.nlm.nih.gov/?term=GRAP	None	None	5185	59
GREB1L	GREB1 like retinoic acid receptor coactivator	Renal hypodysplasia/aplasia 3?0025410;Bilateral renal agenesis?0016579;Hearing loss, autosomal dominant 80?0018158;Unilateral renal agenesis?0016804	https://raresource.nih.gov/literature/gene/GREB1L	80000	ENSG00000141449	31042	https://pubmed.ncbi.nlm.nih.gov/?term=GREB1L	None	None	87369	64
GREM1	gremlin 1, DAN family BMP antagonist	Hereditary mixed polyposis syndrome?0016981	https://raresource.nih.gov/literature/gene/GREM1	26585	ENSG00000166923	2001	https://pubmed.ncbi.nlm.nih.gov/?term=GREM1	None	None	10325	999
GREM2	gremlin 2, DAN family BMP antagonist	Hypodontia?0016908;Tooth agenesis, selective, 9?0025046	https://raresource.nih.gov/literature/gene/GREM2	64388	ENSG00000180875	17655	https://pubmed.ncbi.nlm.nih.gov/?term=GREM2	None	None	47254	142
GRHL2	grainyhead like transcription factor 2	Autosomal dominant nonsyndromic hearing loss 28?0018124;Corneal dystrophy, posterior polymorphous, 4?0018215;Posterior polymorphous corneal dystrophy?0016882;Autosomal dominant nonsyndromic hearing loss?0016791;Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome?0017703	https://raresource.nih.gov/literature/gene/GRHL2	79977	ENSG00000083307	2799	https://pubmed.ncbi.nlm.nih.gov/?term=GRHL2	None	None	66993	321
GRHL3	grainyhead like transcription factor 3	Van der Woude syndrome?0008414;Van der Woude syndrome 2?0007846	https://raresource.nih.gov/literature/gene/GRHL3	57822	ENSG00000158055	25839	https://pubmed.ncbi.nlm.nih.gov/?term=GRHL3	None	None	16532	1133
GRHPR	glyoxylate and hydroxypyruvate reductase	Primary hyperoxaluria, type II?0002836	https://raresource.nih.gov/literature/gene/GRHPR	9380	ENSG00000137106	4570	https://pubmed.ncbi.nlm.nih.gov/?term=GRHPR	None	None	6706	178
GRIA1	glutamate ionotropic receptor AMPA type subunit 1	Intellectual developmental disorder, autosomal recessive 76?0025669;Autosomal dominant non-syndromic intellectual disability?0012107;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/GRIA1	2890	ENSG00000155511	4571	https://pubmed.ncbi.nlm.nih.gov/?term=GRIA1	None	None	108401	3277
GRIA2	glutamate ionotropic receptor AMPA type subunit 2	Neurodevelopmental disorder with language impairment and behavioral abnormalities?0027520	https://raresource.nih.gov/literature/gene/GRIA2	2891	ENSG00000120251	4572	https://pubmed.ncbi.nlm.nih.gov/?term=GRIA2	None	None	58634	2479
GRID2	glutamate ionotropic receptor delta type subunit 2	Autosomal recessive spinocerebellar ataxia 18?0017557	https://raresource.nih.gov/literature/gene/GRID2	2895	ENSG00000152208	4576	https://pubmed.ncbi.nlm.nih.gov/?term=GRID2	None	None	575371	266
GRIK2	glutamate ionotropic receptor kainate type subunit 2	Intellectual disability, autosomal recessive 6?0022542;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/GRIK2	2898	ENSG00000164418	4580	https://pubmed.ncbi.nlm.nih.gov/?term=GRIK2	None	None	342080	696
GRIN1	glutamate ionotropic receptor NMDA type subunit 1	Autosomal dominant non-syndromic intellectual disability?0012107;Developmental and epileptic encephalopathy 101?0025626;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant?0013686;Bilateral generalized polymicrogyria?0010786;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive?0027527;GRIN1-related complex neurodevelopmental disorder?0027585;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/GRIN1	2902	ENSG00000176884	4584	https://pubmed.ncbi.nlm.nih.gov/?term=GRIN1	None	None	15709	3907
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A	GRIN2A-related complex neurodevelopmental disorder?0027588;Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation?0021134;Continuous spikes and waves during sleep?0001513;Landau-Kleffner syndrome?0006855;Self-limited epilepsy with centrotemporal spikes?0010287;Rolandic epilepsy-speech dyspraxia syndrome?0017002	https://raresource.nih.gov/literature/gene/GRIN2A	2903	ENSG00000183454	4585	https://pubmed.ncbi.nlm.nih.gov/?term=GRIN2A	None	None	130130	2947
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B	Intellectual disability, autosomal dominant 6?0012851;GRIN2B-related complex neurodevelopmental disorder?0027542;Developmental and epileptic encephalopathy, 27?0016063;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/GRIN2B	2904	ENSG00000273079	4586	https://pubmed.ncbi.nlm.nih.gov/?term=GRIN2B	None	None	108104	4477
GRIN2D	glutamate ionotropic receptor NMDA type subunit 2D	Developmental and epileptic encephalopathy, 46?0016205;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/GRIN2D	2906	ENSG00000105464	4588	https://pubmed.ncbi.nlm.nih.gov/?term=GRIN2D	None	None	16264	42
GRIP1	glutamate receptor interacting protein 1	Fraser syndrome 3?0025964;Cryptophthalmos syndrome?0006465	https://raresource.nih.gov/literature/gene/GRIP1	23426	ENSG00000155974	18708	https://pubmed.ncbi.nlm.nih.gov/?term=GRIP1	None	None	160190	485
GRK1	G protein-coupled receptor kinase 1	Oguchi disease?0010118;Oguchi disease-2?0015660	https://raresource.nih.gov/literature/gene/GRK1	6011	ENSG00000185974	10013	https://pubmed.ncbi.nlm.nih.gov/?term=GRK1	None	None	10279	420
GRK2	G protein-coupled receptor kinase 2	Jeune syndrome - GRK2-related?0027278	https://raresource.nih.gov/literature/gene/GRK2	156	ENSG00000173020	289	https://pubmed.ncbi.nlm.nih.gov/?term=GRK2	None	None	5219	241
GRM1	glutamate metabotropic receptor 1	Spinocerebellar ataxia 44?0025801;Autosomal recessive spinocerebellar ataxia 13?0017481	https://raresource.nih.gov/literature/gene/GRM1	2911	ENSG00000152822	4593	https://pubmed.ncbi.nlm.nih.gov/?term=GRM1	None	None	153422	1760
GRM6	glutamate metabotropic receptor 6	GRM6-related retinopathy?0026547;Congenital stationary night blindness?0025068;Congenital stationary night blindness 1B?0015212	https://raresource.nih.gov/literature/gene/GRM6	2916	ENSG00000113262	4598	https://pubmed.ncbi.nlm.nih.gov/?term=GRM6	None	None	10183	332
GRM7	glutamate metabotropic receptor 7	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities?0018524;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/GRM7	2917	ENSG00000196277	4599	https://pubmed.ncbi.nlm.nih.gov/?term=GRM7	None	None	392357	589
GRN	granulin precursor	Neuronal ceroid lipofuscinosis 11?0017426;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions?0010004	https://raresource.nih.gov/literature/gene/GRN	2896	ENSG00000030582	4601	https://pubmed.ncbi.nlm.nih.gov/?term=GRN	None	None	3111	2543
GRXCR1	glutaredoxin and cysteine rich domain containing 1	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 25?0022632	https://raresource.nih.gov/literature/gene/GRXCR1	389207	ENSG00000215203	31673	https://pubmed.ncbi.nlm.nih.gov/?term=GRXCR1	None	None	54132	20
GRXCR2	glutaredoxin and cysteine rich domain containing 2	Autosomal recessive nonsyndromic hearing loss 101?0022651;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/GRXCR2	643226	ENSG00000204928	33862	https://pubmed.ncbi.nlm.nih.gov/?term=GRXCR2	None	None	30276	9
GSC	goosecoid homeobox	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome?0017633	https://raresource.nih.gov/literature/gene/GSC	145258	ENSG00000133937	4612	https://pubmed.ncbi.nlm.nih.gov/?term=GSC	None	None	1800	397
GSDME	gasdermin E	Autosomal dominant nonsyndromic hearing loss?0016791;Autosomal dominant nonsyndromic hearing loss 5?0018102	https://raresource.nih.gov/literature/gene/GSDME	1687	ENSG00000105928	2810	https://pubmed.ncbi.nlm.nih.gov/?term=GSDME	None	None	23914	946
GSN	gelsolin	Finnish type amyloidosis?0002339	https://raresource.nih.gov/literature/gene/GSN	2934	ENSG00000148180	4620	https://pubmed.ncbi.nlm.nih.gov/?term=GSN	None	None	44805	3013
GSR	glutathione-disulfide reductase	Hemolytic anemia due to glutathione reductase deficiency?0016784	https://raresource.nih.gov/literature/gene/GSR	2936	ENSG00000104687	4623	https://pubmed.ncbi.nlm.nih.gov/?term=GSR	None	None	22151	15255
GSS	glutathione synthetase	Glutathione synthetase deficiency with 5-oxoprolinuria?0017330;Glutathione synthetase deficiency without 5-oxoprolinuria?0017331	https://raresource.nih.gov/literature/gene/GSS	2937	ENSG00000100983	4624	https://pubmed.ncbi.nlm.nih.gov/?term=GSS	None	None	7683	1216
GSX2	GS homeobox 2	Diencephalic-mesencephalic junction dysplasia?0021407;Diencephalic-mesencephalic junction dysplasia syndrome 2?0025240	https://raresource.nih.gov/literature/gene/GSX2	170825	ENSG00000180613	24959	https://pubmed.ncbi.nlm.nih.gov/?term=GSX2	None	None	658	188
GTF2E2	general transcription factor IIE subunit 2	Trichothiodystrophy?0012109;Trichothiodystrophy 6, nonphotosensitive?0016172	https://raresource.nih.gov/literature/gene/GTF2E2	2961	ENSG00000197265	4651	https://pubmed.ncbi.nlm.nih.gov/?term=GTF2E2	None	None	31413	462
GTF2H5	general transcription factor IIH subunit 5	Trichothiodystrophy?0012109;Trichothiodystrophy 3, photosensitive?0016102	https://raresource.nih.gov/literature/gene/GTF2H5	404672	ENSG00000272047	21157	https://pubmed.ncbi.nlm.nih.gov/?term=GTF2H5	None	None	14333	921
GTPBP3	GTP binding protein 3, mitochondrial	Combined oxidative phosphorylation defect type 23?0017759	https://raresource.nih.gov/literature/gene/GTPBP3	84705	ENSG00000130299	14880	https://pubmed.ncbi.nlm.nih.gov/?term=GTPBP3	None	None	3265	79
GUCA1A	guanylate cyclase activator 1A	Cone-rod dystrophy?0010790;Cone dystrophy 3?0015342;Central areolar choroidal dystrophy?0010049;Cone dystrophy?0011897	https://raresource.nih.gov/literature/gene/GUCA1A	2978	ENSG00000048545	4678	https://pubmed.ncbi.nlm.nih.gov/?term=GUCA1A	None	None	10516	10
GUCA1B	guanylate cyclase activator 1B	Retinitis pigmentosa 48?0015720	https://raresource.nih.gov/literature/gene/GUCA1B	2979	ENSG00000112599	4679	https://pubmed.ncbi.nlm.nih.gov/?term=GUCA1B	None	None	6745	135
GUCY1A1	guanylate cyclase 1 soluble subunit alpha 1	Moyamoya disease with early-onset achalasia?0017664	https://raresource.nih.gov/literature/gene/GUCY1A1	2982	ENSG00000164116	4685	https://pubmed.ncbi.nlm.nih.gov/?term=GUCY1A1	None	None	24725	82
GUCY2C	guanylate cyclase 2C	Congenital diarrhea 6?0017417;Congenital sodium diarrhea?0016945;Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency?0017418	https://raresource.nih.gov/literature/gene/GUCY2C	2984	ENSG00000070019	4688	https://pubmed.ncbi.nlm.nih.gov/?term=GUCY2C	None	None	18852	4196
GUCY2D	guanylate cyclase 2D, retinal	Leber congenital amaurosis 1?0000635;GUCY2D retinopathy?0026228;Cone-rod dystrophy 6?0010656;Night blindness, congenital stationary, type1i?0016364;Cone-rod dystrophy?0010790;Leber congenital amaurosis?0000634;Central areolar choroidal dystrophy?0010049	https://raresource.nih.gov/literature/gene/GUCY2D	3000	ENSG00000132518	4689	https://pubmed.ncbi.nlm.nih.gov/?term=GUCY2D	None	None	6304	1611
GUF1	GTP binding elongation factor GUF1	Developmental and epileptic encephalopathy, 40?0016182	https://raresource.nih.gov/literature/gene/GUF1	60558	ENSG00000151806	25799	https://pubmed.ncbi.nlm.nih.gov/?term=GUF1	None	None	9176	67
GUK1	guanylate kinase 1	Mitochondrial dna depletion syndrome 21?0027427	https://raresource.nih.gov/literature/gene/GUK1	2987	ENSG00000143774	4693	https://pubmed.ncbi.nlm.nih.gov/?term=GUK1	None	None	4245	285
GUSB	glucuronidase beta	Mucopolysaccharidosis type 7?0007096	https://raresource.nih.gov/literature/gene/GUSB	2990	ENSG00000169919	4696	https://pubmed.ncbi.nlm.nih.gov/?term=GUSB	None	None	9935	9265
GYG1	glycogenin 1	Polyglucosan body myopathy type 2?0017793;Glycogen storage disease XV?0017254;GYG1-related disorder of glycogen metabolism?0026138	https://raresource.nih.gov/literature/gene/GYG1	2992	ENSG00000163754	4699	https://pubmed.ncbi.nlm.nih.gov/?term=GYG1	None	None	14635	98
GYPA	glycophorin A (MNS blood group)	Malaria?0006961	https://raresource.nih.gov/literature/gene/GYPA	2993	ENSG00000170180	4702	https://pubmed.ncbi.nlm.nih.gov/?term=GYPA	None	None	13395	2546
GYPB	glycophorin B (MNS blood group)	Malaria?0006961	https://raresource.nih.gov/literature/gene/GYPB	2994	ENSG00000250361	4703	https://pubmed.ncbi.nlm.nih.gov/?term=GYPB	None	None	11460	3509
GYPC	glycophorin C (Gerbich blood group)	Malaria?0006961;Hereditary elliptocytosis?0006621	https://raresource.nih.gov/literature/gene/GYPC	2995	ENSG00000136732	4704	https://pubmed.ncbi.nlm.nih.gov/?term=GYPC	None	None	18029	2047
GYS1	glycogen synthase 1	Glycogen storage disease due to muscle and heart glycogen synthase deficiency?0010760	https://raresource.nih.gov/literature/gene/GYS1	2997	ENSG00000104812	4706	https://pubmed.ncbi.nlm.nih.gov/?term=GYS1	None	None	8992	276
GYS2	glycogen synthase 2	Glycogen storage disorder due to hepatic glycogen synthase deficiency?0002513	https://raresource.nih.gov/literature/gene/GYS2	2998	ENSG00000111713	4707	https://pubmed.ncbi.nlm.nih.gov/?term=GYS2	None	None	17401	135
GZF1	GDNF inducible zinc finger protein 1	Joint laxity, short stature, and myopia?0017963	https://raresource.nih.gov/literature/gene/GZF1	64412	ENSG00000125812	15808	https://pubmed.ncbi.nlm.nih.gov/?term=GZF1	None	None	5004	13
H1-4	H1.4 linker histone, cluster member	Rahman syndrome?0013422	https://raresource.nih.gov/literature/gene/H1-4	3008	ENSG00000168298	4718	https://pubmed.ncbi.nlm.nih.gov/?term=H1-4	None	None	1989	91
H19	H19 imprinted maternally expressed transcript	Isolated hemihyperplasia?0002630;Wilms tumor 1?0015124	https://raresource.nih.gov/literature/gene/H19	283120	ENSG00000130600	4713	https://pubmed.ncbi.nlm.nih.gov/?term=H19	None	None	2537	4157
H6PD	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	Cortisone reductase deficiency 1?0015375;Cortisone reductase deficiency?0009882	https://raresource.nih.gov/literature/gene/H6PD	9563	ENSG00000049239	4795	https://pubmed.ncbi.nlm.nih.gov/?term=H6PD	None	None	17427	5040
HAAO	3-hydroxyanthranilate 3,4-dioxygenase	Congenital vertebral-cardiac-renal anomalies syndrome?0017961;Vertebral, cardiac, renal, and limb defects syndrome 1?0018508	https://raresource.nih.gov/literature/gene/HAAO	23498	ENSG00000162882	4796	https://pubmed.ncbi.nlm.nih.gov/?term=HAAO	None	None	12821	820
HABP2	hyaluronan binding protein 2	Familial papillary or follicular thyroid carcinoma?0008488;Thyroid cancer, nonmedullary, 5?0016133;Thrombophilia due to thrombin defect?0010815	https://raresource.nih.gov/literature/gene/HABP2	3026	ENSG00000148702	4798	https://pubmed.ncbi.nlm.nih.gov/?term=HABP2	None	None	15708	367
HACD1	3-hydroxyacyl-CoA dehydratase 1	Congenital myopathy with fiber type disproportion?0006161;Congenital myopathy 11?0026683	https://raresource.nih.gov/literature/gene/HACD1	9200	ENSG00000165996	9639	https://pubmed.ncbi.nlm.nih.gov/?term=HACD1	None	None	13531	1895
HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	Spastic paraplegia-severe developmental delay-epilepsy syndrome?0017816	https://raresource.nih.gov/literature/gene/HACE1	57531	ENSG00000085382	21033	https://pubmed.ncbi.nlm.nih.gov/?term=HACE1	None	None	52235	135
HADH	hydroxyacyl-CoA dehydrogenase	Deficiency of 3-hydroxyacyl-CoA dehydrogenase?0021319;Hyperinsulinemic hypoglycemia, familial, 4?0009870	https://raresource.nih.gov/literature/gene/HADH	3033	ENSG00000138796	4799	https://pubmed.ncbi.nlm.nih.gov/?term=HADH	None	None	17606	875
HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	Mitochondrial trifunctional protein deficiency?0003684;Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency?0006867;Mitochondrial trifunctional protein deficiency 1?0026958;Acute fatty liver of pregnancy?0009578	https://raresource.nih.gov/literature/gene/HADHA	3030	ENSG00000084754	4801	https://pubmed.ncbi.nlm.nih.gov/?term=HADHA	None	None	19568	1234
HADHB	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta	Mitochondrial trifunctional protein deficiency?0003684;Mitochondrial trifunctional protein deficiency 2?0026962	https://raresource.nih.gov/literature/gene/HADHB	3032	ENSG00000138029	4803	https://pubmed.ncbi.nlm.nih.gov/?term=HADHB	None	None	19217	395
HAL	histidine ammonia-lyase	Histidinemia?0006661	https://raresource.nih.gov/literature/gene/HAL	3034	ENSG00000084110	4806	https://pubmed.ncbi.nlm.nih.gov/?term=HAL	None	None	7362	1109
HAMP	hepcidin antimicrobial peptide	Juvenile hemochromatosis?0010092;Hemochromatosis type 2B?0015647;Digenic hemochromatosis?0026922	https://raresource.nih.gov/literature/gene/HAMP	57817	ENSG00000105697	15598	https://pubmed.ncbi.nlm.nih.gov/?term=HAMP	None	None	2143	5827
HAND1	heart and neural crest derivatives expressed 1	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/HAND1	9421	ENSG00000113196	4807	https://pubmed.ncbi.nlm.nih.gov/?term=HAND1	None	None	2767	390
HAND2	heart and neural crest derivatives expressed 2	Tetralogy of Fallot?0002245;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/HAND2	9464	ENSG00000164107	4808	https://pubmed.ncbi.nlm.nih.gov/?term=HAND2	None	None	3580	725
HARS1	histidyl-tRNA synthetase 1	Usher syndrome type 3B?0015813;Autosomal dominant Charcot-Marie-Tooth disease type 2W?0017891;Usher syndrome type 3?0005442	https://raresource.nih.gov/literature/gene/HARS1	3035	ENSG00000170445	4816	https://pubmed.ncbi.nlm.nih.gov/?term=HARS1	None	None	6396	630
HARS2	histidyl-tRNA synthetase 2, mitochondrial	Perrault syndrome 2?0015882	https://raresource.nih.gov/literature/gene/HARS2	23438	ENSG00000112855	4817	https://pubmed.ncbi.nlm.nih.gov/?term=HARS2	None	None	3204	135
HAVCR2	hepatitis A virus cellular receptor 2	Subcutaneous panniculitis-like T-cell lymphoma?0010193	https://raresource.nih.gov/literature/gene/HAVCR2	84868	ENSG00000135077	18437	https://pubmed.ncbi.nlm.nih.gov/?term=HAVCR2	None	None	10931	3874
HAX1	HCLS1 associated protein X-1	Kostmann syndrome?0000302	https://raresource.nih.gov/literature/gene/HAX1	10456	ENSG00000143575	16915	https://pubmed.ncbi.nlm.nih.gov/?term=HAX1	None	None	3416	340
HBA1	hemoglobin subunit alpha 1	Alpha Thalassemia?0000621;Heinz body anemia?0010718;Methemoglobinemia, alpha type?0016277;HBA1-related alpha thalassemia spectrum?0026280;Hemoglobin Bart hydrops syndrome?0016992;Erythrocytosis, familial, 7?0025979;Hemoglobin H disease?0016829	https://raresource.nih.gov/literature/gene/HBA1	3039	ENSG00000206172	4823	https://pubmed.ncbi.nlm.nih.gov/?term=HBA1	None	None	1679	1475
HBA2	hemoglobin subunit alpha 2	Alpha Thalassemia?0000621;Heinz body anemia?0010718;HBA2-related alpha thalassemia spectrum?0026281;Hemoglobin Bart hydrops syndrome?0016992;Erythrocytosis, familial, 7?0025979;Hemoglobin H disease?0016829	https://raresource.nih.gov/literature/gene/HBA2	3040	ENSG00000188536	4824	https://pubmed.ncbi.nlm.nih.gov/?term=HBA2	None	None	1733	1714
HBB	hemoglobin subunit beta	Hemoglobin E/beta thalassemia disease?0020609;Dominant beta-thalassemia?0017164;Hereditary persistence of fetal hemoglobin?0025271;Hemoglobin D disease?0019103;Hemoglobin M disease?0013007;Delta-beta-thalassemia?0017165;Hemoglobin E disease?0002641;Malaria?0006961;Beta-thalassemia major?0017162;Sickle cell-hemoglobin D disease?0012458;Heinz body anemia?0010718;Sickle cell-hemoglobin E disease syndrome?0020700;Erythrocytosis, familial, 6?0025978;Beta-thalassemia HBB/LCRB?0024933;Sickle cell-hemoglobin C disease?0006584;Hemoglobin C-beta-thalassemia syndrome?0020608;Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome?0018648;Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome?0018642;Beta thalassemia intermedia?0017163;Hb SS disease?0008614	https://raresource.nih.gov/literature/gene/HBB	3043	ENSG00000244734	4827	https://pubmed.ncbi.nlm.nih.gov/?term=HBB	None	None	3340	3575
HBD	hemoglobin subunit delta	Delta-beta-thalassemia?0017165	https://raresource.nih.gov/literature/gene/HBD	3045	ENSG00000223609	4829	https://pubmed.ncbi.nlm.nih.gov/?term=HBD	None	None	6152	1918
HBG1	hemoglobin subunit gamma 1	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome?0018648;Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome?0018642;Hereditary persistence of fetal hemoglobin?0025271;Delta-beta-thalassemia?0017165	https://raresource.nih.gov/literature/gene/HBG1	3047	ENSG00000213934	4831	https://pubmed.ncbi.nlm.nih.gov/?term=HBG1	None	None	289	861
HBG2	hemoglobin subunit gamma 2	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome?0018648;Hemoglobinopathy Toms River?0017297;Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome?0018642;Hereditary persistence of fetal hemoglobin?0025271	https://raresource.nih.gov/literature/gene/HBG2	3048	ENSG00000196565	4832	https://pubmed.ncbi.nlm.nih.gov/?term=HBG2	None	None	5626	4359
HCCS	holocytochrome c synthase	Linear skin defects with multiple congenital anomalies 1?0025427;Linear skin defects with multiple congenital anomalies?0003659	https://raresource.nih.gov/literature/gene/HCCS	3052	ENSG00000004961	4837	https://pubmed.ncbi.nlm.nih.gov/?term=HCCS	None	None	1553	329
HCFC1	host cell factor C1	Methylmalonic acidemia with homocystinuria, type cblX?0013137;Non-syndromic X-linked intellectual disability?0018640	https://raresource.nih.gov/literature/gene/HCFC1	3054	ENSG00000172534	4839	https://pubmed.ncbi.nlm.nih.gov/?term=HCFC1	None	None	5927	391
HCN1	hyperpolarization activated cyclic nucleotide gated potassium channel 1	Generalized epilepsy with febrile seizures plus?0018641;Generalized epilepsy with febrile seizures plus, type 10?0018671;Developmental and epileptic encephalopathy, 24?0016024;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/HCN1	348980	ENSG00000164588	4845	https://pubmed.ncbi.nlm.nih.gov/?term=HCN1	None	None	183147	716
HCN4	hyperpolarization activated cyclic nucleotide gated potassium channel 4	Sick sinus syndrome 2, autosomal dominant?0018284;Brugada syndrome 8?0015622;Familial sick sinus syndrome?0013663	https://raresource.nih.gov/literature/gene/HCN4	10021	ENSG00000138622	16882	https://pubmed.ncbi.nlm.nih.gov/?term=HCN4	None	None	13141	743
HCRT	hypocretin neuropeptide precursor	Narcolepsy 1?0015091	https://raresource.nih.gov/literature/gene/HCRT	3060	ENSG00000161610	4847	https://pubmed.ncbi.nlm.nih.gov/?term=HCRT	None	None	1494	160
HDAC4	histone deacetylase 4	Chromosome 2q37 deletion syndrome?0010202	https://raresource.nih.gov/literature/gene/HDAC4	9759	ENSG00000068024	14063	https://pubmed.ncbi.nlm.nih.gov/?term=HDAC4	None	None	144293	28
HDAC6	histone deacetylase 6	X-linked dominant chondrodysplasia, Chassaing-Lacombe type?0017007	https://raresource.nih.gov/literature/gene/HDAC6	10013	ENSG00000094631	14064	https://pubmed.ncbi.nlm.nih.gov/?term=HDAC6	None	None	4879	2937
HDAC8	histone deacetylase 8	Cornelia de Lange syndrome 5?0015271;De Lange syndrome?0010109	https://raresource.nih.gov/literature/gene/HDAC8	55869	ENSG00000147099	13315	https://pubmed.ncbi.nlm.nih.gov/?term=HDAC8	None	None	37987	1318
HDAC9	histone deacetylase 9	Auriculocondylar syndrome 4?0026862	https://raresource.nih.gov/literature/gene/HDAC9	9734	ENSG00000048052	14065	https://pubmed.ncbi.nlm.nih.gov/?term=HDAC9	None	None	151993	10626
HEATR3	HEAT repeat containing 3	Diamond-Blackfan anemia 21?0025692;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/HEATR3	55027	ENSG00000155393	26087	https://pubmed.ncbi.nlm.nih.gov/?term=HEATR3	None	None	13021	19
HELLS	helicase, lymphoid specific	Immunodeficiency-centromeric instability-facial anomalies syndrome 4?0016169;Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency?0002945	https://raresource.nih.gov/literature/gene/HELLS	3070	ENSG00000119969	4861	https://pubmed.ncbi.nlm.nih.gov/?term=HELLS	None	None	31274	343
HEPACAM	hepatic and glial cell adhesion molecule	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability?0015729;Megalencephalic leukoencephalopathy with subcortical cysts 1?0025430;Megalencephalic leukoencephalopathy with subcortical cysts?0003445;Megalencephalic leukoencephalopathy with subcortical cysts 2A?0015728	https://raresource.nih.gov/literature/gene/HEPACAM	220296	ENSG00000165478	26361	https://pubmed.ncbi.nlm.nih.gov/?term=HEPACAM	None	None	4925	201
HEPHL1	hephaestin like 1	Pili torti-developmental delay-neurological abnormalities syndrome?0004362	https://raresource.nih.gov/literature/gene/HEPHL1	341208	ENSG00000181333	30477	https://pubmed.ncbi.nlm.nih.gov/?term=HEPHL1	None	None	5922	260
HERC1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome?0017805	https://raresource.nih.gov/literature/gene/HERC1	8925	ENSG00000103657	4867	https://pubmed.ncbi.nlm.nih.gov/?term=HERC1	None	None	59625	98
HERC2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	Developmental delay with autism spectrum disorder and gait instability?0017496;Prader-Willi syndrome?0005575	https://raresource.nih.gov/literature/gene/HERC2	8924	ENSG00000128731	4868	https://pubmed.ncbi.nlm.nih.gov/?term=HERC2	None	None	63628	298
HES7	hes family bHLH transcription factor 7	Spondylocostal dysostosis 4, autosomal recessive?0004976;Autosomal recessive spondylocostal dysostosis?0006798	https://raresource.nih.gov/literature/gene/HES7	84667	ENSG00000179111	15977	https://pubmed.ncbi.nlm.nih.gov/?term=HES7	None	None	1945	116
HESX1	HESX homeobox 1	Pituitary stalk interruption syndrome?0013209;Hypogonadism with anosmia?0010771;Hypothyroidism due to deficient transcription factors involved in pituitary development or function?0020562;Septo-optic dysplasia sequence?0007627;Combined pituitary hormone deficiencies, genetic form?0010602	https://raresource.nih.gov/literature/gene/HESX1	8820	ENSG00000163666	4877	https://pubmed.ncbi.nlm.nih.gov/?term=HESX1	None	None	11521	3294
HEXA	hexosaminidase subunit alpha	Tay-Sachs disease, B variant, adult form?0021326;Tay-Sachs disease?0007737;Tay-Sachs disease, b variant, juvenile form?0021325;Tay-Sachs disease, b variant, infantile form?0021324	https://raresource.nih.gov/literature/gene/HEXA	3073	ENSG00000213614	4878	https://pubmed.ncbi.nlm.nih.gov/?term=HEXA	None	None	10645	569
HEXB	hexosaminidase subunit beta	Sandhoff disease, adult form?0017405;Sandhoff disease, infantile form?0007604;Sandhoff disease?0002521;Sandhoff disease, juvenile form?0017404	https://raresource.nih.gov/literature/gene/HEXB	3074	ENSG00000049860	4879	https://pubmed.ncbi.nlm.nih.gov/?term=HEXB	None	None	32433	377
HEY2	hes related family bHLH transcription factor with YRPW motif 2	Familial thoracic aortic aneurysm and aortic dissection?0002249;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/HEY2	23493	ENSG00000135547	4881	https://pubmed.ncbi.nlm.nih.gov/?term=HEY2	None	None	6792	503
HFE	homeostatic iron regulator	Digenic hemochromatosis?0026922	https://raresource.nih.gov/literature/gene/HFE	3077	ENSG00000010704	4886	https://pubmed.ncbi.nlm.nih.gov/?term=HFE	None	None	6500	7393
HFM1	helicase for meiosis 1	Premature ovarian failure 9?0024986	https://raresource.nih.gov/literature/gene/HFM1	164045	ENSG00000162669	20193	https://pubmed.ncbi.nlm.nih.gov/?term=HFM1	None	None	56472	5363
HGD	homogentisate 1,2-dioxygenase	Alkaptonuria?0005775	https://raresource.nih.gov/literature/gene/HGD	3081	ENSG00000113924	4892	https://pubmed.ncbi.nlm.nih.gov/?term=HGD	None	None	21250	369
HGF	hepatocyte growth factor	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 39?0022608	https://raresource.nih.gov/literature/gene/HGF	3082	ENSG00000019991	4893	https://pubmed.ncbi.nlm.nih.gov/?term=HGF	None	None	26715	16274
HGSNAT	heparan-alpha-glucosaminide N-acetyltransferase	Mucopolysaccharidosis, MPS-III-C?0007073;Retinitis pigmentosa 73?0016135;HGSNAT-related retinopathy?0027242	https://raresource.nih.gov/literature/gene/HGSNAT	138050	ENSG00000165102	26527	https://pubmed.ncbi.nlm.nih.gov/?term=HGSNAT	None	None	27078	74
HHAT	hedgehog acyltransferase	Chondrodysplasia-pseudohermaphroditism syndrome?0016565	https://raresource.nih.gov/literature/gene/HHAT	55733	ENSG00000054392	18270	https://pubmed.ncbi.nlm.nih.gov/?term=HHAT	None	None	132256	117
HIBCH	3-hydroxyisobutyryl-CoA hydrolase	3-hydroxyisobutyryl-CoA hydrolase deficiency?0013202	https://raresource.nih.gov/literature/gene/HIBCH	26275	ENSG00000198130	4908	https://pubmed.ncbi.nlm.nih.gov/?term=HIBCH	None	None	45539	85
HID1	HID1 domain containing	Developmental and epileptic encephalopathy 105 with hypopituitarism?0025678	https://raresource.nih.gov/literature/gene/HID1	283987	ENSG00000167861	15736	https://pubmed.ncbi.nlm.nih.gov/?term=HID1	None	None	6977	611
HIKESHI	heat shock protein nuclear import factor hikeshi	C11orf73-related autosomal recessive hypomyelinating leukodystrophy?0017910;Hypomyelinating leukodystrophy 13?0025018	https://raresource.nih.gov/literature/gene/HIKESHI	51501	ENSG00000149196	26938	https://pubmed.ncbi.nlm.nih.gov/?term=HIKESHI	None	None	13595	37
HINT1	histidine triad nucleotide binding protein 1	Autosomal recessive axonal neuropathy with neuromyotonia?0012353	https://raresource.nih.gov/literature/gene/HINT1	3094	ENSG00000169567	4912	https://pubmed.ncbi.nlm.nih.gov/?term=HINT1	None	None	4973	1
HIVEP2	HIVEP zinc finger 2	Intellectual disability, autosomal dominant 43?0013179;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/HIVEP2	3097	ENSG00000010818	4921	https://pubmed.ncbi.nlm.nih.gov/?term=HIVEP2	None	None	73395	101
HJV	hemojuvelin BMP co-receptor	Hemochromatosis type 2A?0024782;Juvenile hemochromatosis?0010092;Digenic hemochromatosis?0026922	https://raresource.nih.gov/literature/gene/HJV	148738	ENSG00000168509	4887	https://pubmed.ncbi.nlm.nih.gov/?term=HJV	None	None	10491	2731
HK1	hexokinase 1	Charcot-Marie-Tooth disease type 4G?0010132;Retinitis pigmentosa 79?0016231;Hemolytic anemia due to hexokinase deficiency?0003672	https://raresource.nih.gov/literature/gene/HK1	3098	ENSG00000156515	4922	https://pubmed.ncbi.nlm.nih.gov/?term=HK1	None	None	51191	8241
HKDC1	hexokinase domain containing 1	Retinitis pigmentosa 92?0025604	https://raresource.nih.gov/literature/gene/HKDC1	80201	ENSG00000156510	23302	https://pubmed.ncbi.nlm.nih.gov/?term=HKDC1	None	None	7634	109
HLA-A	major histocompatibility complex, class I, A	Stevens-Johnson syndrome?0007700	https://raresource.nih.gov/literature/gene/HLA-A	3105	ENSG00000206503	4931	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-A	None	None	9277	2653
HLA-B	major histocompatibility complex, class I, B	Stevens-Johnson syndrome?0007700	https://raresource.nih.gov/literature/gene/HLA-B	3106	ENSG00000234745	4932	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-B	None	None	8438	4176
HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	Inherited Creutzfeldt-Jakob disease?0017307	https://raresource.nih.gov/literature/gene/HLA-DQB1	3119	ENSG00000179344	4944	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-DQB1	None	None	10165	1236
HLA-DRB1	major histocompatibility complex, class II, DR beta 1	Sarcoidosis?0007607	https://raresource.nih.gov/literature/gene/HLA-DRB1	3123	ENSG00000196126	4948	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-DRB1	None	None	21885	5322
HLCS	holocarboxylase synthetase	Holocarboxylase synthetase deficiency?0002721	https://raresource.nih.gov/literature/gene/HLCS	3141	ENSG00000159267	4976	https://pubmed.ncbi.nlm.nih.gov/?term=HLCS	None	None	58033	615
HLX	H2.0 like homeobox	Diaphragmatic hernia-short bowel-asplenia syndrome?0022193	https://raresource.nih.gov/literature/gene/HLX	3142	ENSG00000136630	4978	https://pubmed.ncbi.nlm.nih.gov/?term=HLX	None	None	3736	153
HMBS	hydroxymethylbilane synthase	Acute intermittent porphyria?0005732;Leukoencephalopathy, porphyria-related?0026976	https://raresource.nih.gov/literature/gene/HMBS	3145	ENSG00000256269	4982	https://pubmed.ncbi.nlm.nih.gov/?term=HMBS	None	None	4140	1154
HMCN1	hemicentin 1	Age related macular degeneration 1?0024788	https://raresource.nih.gov/literature/gene/HMCN1	83872	ENSG00000143341	19194	https://pubmed.ncbi.nlm.nih.gov/?term=HMCN1	None	None	171883	106
HMGA2	high mobility group AT-hook 2	Silver-Russell syndrome 5?0018465	https://raresource.nih.gov/literature/gene/HMGA2	8091	ENSG00000149948	5009	https://pubmed.ncbi.nlm.nih.gov/?term=HMGA2	None	None	44494	2060
HMGB1	high mobility group box 1	HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome?0027544	https://raresource.nih.gov/literature/gene/HMGB1	3146	ENSG00000189403	4983	https://pubmed.ncbi.nlm.nih.gov/?term=HMGB1	None	None	42813	11376
HMGB3	high mobility group box 3	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome?0017709	https://raresource.nih.gov/literature/gene/HMGB3	3149	ENSG00000029993	5004	https://pubmed.ncbi.nlm.nih.gov/?term=HMGB3	None	None	2430	210
HMGCL	3-hydroxy-3-methylglutaryl-CoA lyase	Deficiency of hydroxymethylglutaryl-CoA lyase?0008387	https://raresource.nih.gov/literature/gene/HMGCL	3155	ENSG00000117305	5005	https://pubmed.ncbi.nlm.nih.gov/?term=HMGCL	None	None	16279	1294
HMGCR	3-hydroxy-3-methylglutaryl-CoA reductase	Muscular dystrophy, limb-girdle, autosomal recessive 28?0026805	https://raresource.nih.gov/literature/gene/HMGCR	3156	ENSG00000113161	5006	https://pubmed.ncbi.nlm.nih.gov/?term=HMGCR	None	None	8879	11606
HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	3-hydroxy-3-methylglutaryl-CoA synthase deficiency?0002712	https://raresource.nih.gov/literature/gene/HMGCS2	3158	ENSG00000134240	5008	https://pubmed.ncbi.nlm.nih.gov/?term=HMGCS2	None	None	9040	631
HMMR	hyaluronan mediated motility receptor	Familial cancer of breast?0017142	https://raresource.nih.gov/literature/gene/HMMR	3161	ENSG00000072571	5012	https://pubmed.ncbi.nlm.nih.gov/?term=HMMR	None	None	11184	3
HMOX1	heme oxygenase 1	Heme oxygenase 1 deficiency?0017995	https://raresource.nih.gov/literature/gene/HMOX1	3162	ENSG00000100292	5013	https://pubmed.ncbi.nlm.nih.gov/?term=HMOX1	None	None	6734	23643
HMX1	H6 family homeobox 1	Oculoauricular syndrome?0016988	https://raresource.nih.gov/literature/gene/HMX1	3166	ENSG00000215612	5017	https://pubmed.ncbi.nlm.nih.gov/?term=HMX1	None	None	13444	154
HNF1A	HNF1 homeobox A	Hyperinsulinism due to HNF1A deficiency?0021444;Maturity-onset diabetes of the young type 3?0010658;Hepatic adenomas, familial?0024570;Maturity onset diabetes mellitus in young?0003697;Nonpapillary renal cell carcinoma?0024575	https://raresource.nih.gov/literature/gene/HNF1A	6927	ENSG00000135100	11621	https://pubmed.ncbi.nlm.nih.gov/?term=HNF1A	None	None	9783	4017
HNF1B	HNF1 homeobox B	Unilateral multicystic dysplastic kidney?0019375;Bilateral renal dysplasia?0019178;Bilateral multicystic dysplastic kidney?0009517;Unilateral renal dysplasia?0019177;Medullary sponge kidney?0000232;Nonpapillary renal cell carcinoma?0024575;Renal cysts and diabetes syndrome?0010221;Mayer-Rokitansky-Küster-Hauser syndrome type 2?0005513	https://raresource.nih.gov/literature/gene/HNF1B	6928	ENSG00000275410	11630	https://pubmed.ncbi.nlm.nih.gov/?term=HNF1B	None	None	16224	1033
HNF4A	hepatocyte nuclear factor 4 alpha	Hyperinsulinism due to HNF4A deficiency?0020903;Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome?0022238;Maturity-onset diabetes of the young type 1?0003418;Maturity onset diabetes mellitus in young?0003697;Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young?0016048	https://raresource.nih.gov/literature/gene/HNF4A	3172	ENSG00000101076	5024	https://pubmed.ncbi.nlm.nih.gov/?term=HNF4A	None	None	24961	5997
HNMT	histamine N-methyltransferase	Intellectual disability, autosomal recessive 51?0022571;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/HNMT	3176	ENSG00000150540	5028	https://pubmed.ncbi.nlm.nih.gov/?term=HNMT	None	None	19789	683
HNRNPA1	heterogeneous nuclear ribonucleoprotein A1	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia?0010899;Amyotrophic lateral sclerosis?0005786;Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3?0015963;Amyotrophic lateral sclerosis type 20?0015964;Finnish upper limb-onset distal myopathy?0017652	https://raresource.nih.gov/literature/gene/HNRNPA1	3178	ENSG00000135486	5031	https://pubmed.ncbi.nlm.nih.gov/?term=HNRNPA1	None	None	3230	1136
HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	Oculopharyngeal muscular dystrophy 2?0026969;Inclusion body myopathy with Paget disease of bone and frontotemporal dementia?0010899;Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2?0015962	https://raresource.nih.gov/literature/gene/HNRNPA2B1	3181	ENSG00000122566	5033	https://pubmed.ncbi.nlm.nih.gov/?term=HNRNPA2B1	None	None	9737	659
HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	Autosomal dominant limb-girdle muscular dystrophy type 1G?0012531	https://raresource.nih.gov/literature/gene/HNRNPDL	9987	ENSG00000152795	5037	https://pubmed.ncbi.nlm.nih.gov/?term=HNRNPDL	None	None	4882	29
HNRNPH1	heterogeneous nuclear ribonucleoprotein H1	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects?0027077	https://raresource.nih.gov/literature/gene/HNRNPH1	3187	ENSG00000169045	5041	https://pubmed.ncbi.nlm.nih.gov/?term=HNRNPH1	None	None	9738	201
HNRNPH2	heterogeneous nuclear ribonucleoprotein H2	Intellectual disability, X-linked, syndromic, Bain type?0013442	https://raresource.nih.gov/literature/gene/HNRNPH2	3188	ENSG00000126945	5042	https://pubmed.ncbi.nlm.nih.gov/?term=HNRNPH2	None	None	1444	172
HNRNPK	heterogeneous nuclear ribonucleoprotein K	Au-Kline syndrome?0004064	https://raresource.nih.gov/literature/gene/HNRNPK	3190	ENSG00000165119	5044	https://pubmed.ncbi.nlm.nih.gov/?term=HNRNPK	None	None	6410	621
HNRNPR	heterogeneous nuclear ribonucleoprotein R	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities?0027149	https://raresource.nih.gov/literature/gene/HNRNPR	10236	ENSG00000125944	5047	https://pubmed.ncbi.nlm.nih.gov/?term=HNRNPR	None	None	16174	77
HNRNPU	heterogeneous nuclear ribonucleoprotein U	Developmental and epileptic encephalopathy, 54?0016225	https://raresource.nih.gov/literature/gene/HNRNPU	3192	ENSG00000153187	5048	https://pubmed.ncbi.nlm.nih.gov/?term=HNRNPU	None	None	8970	515
HOGA1	4-hydroxy-2-oxoglutarate aldolase 1	Primary hyperoxaluria type 3?0010738	https://raresource.nih.gov/literature/gene/HOGA1	112817	ENSG00000241935	25155	https://pubmed.ncbi.nlm.nih.gov/?term=HOGA1	None	None	387	112
HOMER2	homer scaffold protein 2	Autosomal dominant nonsyndromic hearing loss 68?0018144;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/HOMER2	9455	ENSG00000103942	17513	https://pubmed.ncbi.nlm.nih.gov/?term=HOMER2	None	None	33132	24
HOXA1	homeobox A1	Human HOXA1 syndromes?0008333;Bosley-Salih-Alorainy syndrome?0016684	https://raresource.nih.gov/literature/gene/HOXA1	3198	ENSG00000105991	5099	https://pubmed.ncbi.nlm.nih.gov/?term=HOXA1	None	None	2144	505
HOXA11	homeobox A11	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome?0016687;Radioulnar synostosis with amegakaryocytic thrombocytopenia 1?0018068	https://raresource.nih.gov/literature/gene/HOXA11	3207	ENSG00000005073	5101	https://pubmed.ncbi.nlm.nih.gov/?term=HOXA11	None	None	2276	511
HOXA13	homeobox A13	Guttmacher syndrome?0004470;Hand-foot-genital syndrome?0002594	https://raresource.nih.gov/literature/gene/HOXA13	3209	ENSG00000106031	5102	https://pubmed.ncbi.nlm.nih.gov/?term=HOXA13	None	None	3198	387
HOXA2	homeobox A2	Bilateral microtia-deafness-cleft palate syndrome?0016966;Microtia-Anotia?0000431	https://raresource.nih.gov/literature/gene/HOXA2	3199	ENSG00000105996	5103	https://pubmed.ncbi.nlm.nih.gov/?term=HOXA2	None	None	2201	214
HOXB1	homeobox B1	Facial paresis, hereditary congenital, 3?0018437;Congenital hereditary facial paralysis-variable hearing loss syndrome?0017379	https://raresource.nih.gov/literature/gene/HOXB1	3211	ENSG00000120094	5111	https://pubmed.ncbi.nlm.nih.gov/?term=HOXB1	None	None	2464	267
HOXB13	homeobox B13	Prostate cancer, hereditary, 9?0015505	https://raresource.nih.gov/literature/gene/HOXB13	10481	ENSG00000159184	5112	https://pubmed.ncbi.nlm.nih.gov/?term=HOXB13	None	None	3726	489
HOXC13	homeobox C13	Ectodermal dysplasia 9, hair/nail type?0018066;Pure hair and nail ectodermal dysplasia?0016680	https://raresource.nih.gov/literature/gene/HOXC13	3229	ENSG00000123364	5125	https://pubmed.ncbi.nlm.nih.gov/?term=HOXC13	None	None	3274	242
HOXD10	homeobox D10	Congenital vertical talus, bilateral?0021218;Congenital vertical talus?0005488;Congenital vertical talus, unilateral?0021217	https://raresource.nih.gov/literature/gene/HOXD10	3236	ENSG00000128710	5133	https://pubmed.ncbi.nlm.nih.gov/?term=HOXD10	None	None	4771	276
HOXD13	homeobox D13	Brachydactyly type E?0000987;Brachydactyly type D?0027354;Brachydactyly type E1?0024533;Zygodactyly type 3?0021215;Brachydactyly-syndactyly syndrome?0016821;Syndactyly type 5?0005089;Synpolydactyly type 1?0017358	https://raresource.nih.gov/literature/gene/HOXD13	3239	ENSG00000128714	5136	https://pubmed.ncbi.nlm.nih.gov/?term=HOXD13	None	None	3006	658
HPCA	hippocalcin	Torsion dystonia 2?0002028	https://raresource.nih.gov/literature/gene/HPCA	3208	ENSG00000121905	5144	https://pubmed.ncbi.nlm.nih.gov/?term=HPCA	None	None	3681	194
HPD	4-hydroxyphenylpyruvate dioxygenase	Tyrosinemia type III?0010332;Hawkinsinuria?0005668	https://raresource.nih.gov/literature/gene/HPD	3242	ENSG00000158104	5147	https://pubmed.ncbi.nlm.nih.gov/?term=HPD	None	None	9000	6
HPDL	4-hydroxyphenylpyruvate dioxygenase like	Spastic paraplegia 83, autosomal recessive?0025812;Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities?0010447	https://raresource.nih.gov/literature/gene/HPDL	84842	ENSG00000186603	28242	https://pubmed.ncbi.nlm.nih.gov/?term=HPDL	None	None	1675	35
HPGD	15-hydroxyprostaglandin dehydrogenase	Hypertrophic osteoarthropathy, primary, autosomal recessive, 1?0015216;Cranioosteoarthropathy?0001564;Isolated congenital digital clubbing?0017117	https://raresource.nih.gov/literature/gene/HPGD	3248	ENSG00000164120	5154	https://pubmed.ncbi.nlm.nih.gov/?term=HPGD	None	None	13696	1036
HPRT1	hypoxanthine phosphoribosyltransferase 1	Lesch-Nyhan syndrome?0007226;Partial hypoxanthine-guanine phosphoribosyltransferase deficiency?0016710	https://raresource.nih.gov/literature/gene/HPRT1	3251	ENSG00000165704	5157	https://pubmed.ncbi.nlm.nih.gov/?term=HPRT1	None	None	11414	4378
HPS1	HPS1 biogenesis of lysosomal organelles complex 3 subunit 1	Hermansky-Pudlak syndrome with pulmonary fibrosis?0017168;Hermansky-Pudlak syndrome 1?0018331	https://raresource.nih.gov/literature/gene/HPS1	3257	ENSG00000107521	5163	https://pubmed.ncbi.nlm.nih.gov/?term=HPS1	None	None	11546	304
HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	Hermansky-Pudlak syndrome without pulmonary fibrosis?0017169;Hermansky-Pudlak syndrome 3?0018333	https://raresource.nih.gov/literature/gene/HPS3	84343	ENSG00000163755	15597	https://pubmed.ncbi.nlm.nih.gov/?term=HPS3	None	None	17075	59
HPS4	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	Hermansky-Pudlak syndrome with pulmonary fibrosis?0017168;Hermansky-Pudlak syndrome 4?0018332	https://raresource.nih.gov/literature/gene/HPS4	89781	ENSG00000100099	15844	https://pubmed.ncbi.nlm.nih.gov/?term=HPS4	None	None	9871	600
HPS5	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	Hermansky-Pudlak syndrome without pulmonary fibrosis?0017169;Hermansky-Pudlak syndrome 5?0018334	https://raresource.nih.gov/literature/gene/HPS5	11234	ENSG00000110756	17022	https://pubmed.ncbi.nlm.nih.gov/?term=HPS5	None	None	17557	50
HPS6	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	Hermansky-Pudlak syndrome without pulmonary fibrosis?0017169;Hermansky-Pudlak syndrome 6?0018335	https://raresource.nih.gov/literature/gene/HPS6	79803	ENSG00000166189	18817	https://pubmed.ncbi.nlm.nih.gov/?term=HPS6	None	None	2870	52
HPSE2	heparanase 2 (inactive)	Ochoa syndrome?0000104;Urofacial syndrome type 1?0024666	https://raresource.nih.gov/literature/gene/HPSE2	60495	ENSG00000172987	18374	https://pubmed.ncbi.nlm.nih.gov/?term=HPSE2	None	None	279046	139
HR	HR lysine demethylase and nuclear receptor corepressor	Marie Unna syndrome?0003390;Alopecia universalis congenita?0000614;Atrichia with papular lesions?0016762	https://raresource.nih.gov/literature/gene/HR	55806	ENSG00000168453	5172	https://pubmed.ncbi.nlm.nih.gov/?term=HR	None	None	9964	2675
HRAS	HRas proto-oncogene, GTPase	Epidermal nevus?0024601;Costello syndrome?0001550;Large congenital melanocytic nevus?0002469;Differentiated thyroid carcinoma?0012027;Thyroid cancer, nonmedullary, 2?0005206;Linear nevus sebaceous syndrome?0010291;Phakomatosis pigmentokeratotica?0004311;Wooly hair nevus?0013025	https://raresource.nih.gov/literature/gene/HRAS	3265	ENSG00000174775	5173	https://pubmed.ncbi.nlm.nih.gov/?term=HRAS	None	None	2908	3655
HRG	histidine rich glycoprotein	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency?0017125	https://raresource.nih.gov/literature/gene/HRG	3273	ENSG00000113905	5181	https://pubmed.ncbi.nlm.nih.gov/?term=HRG	None	None	6765	955
HROB	homologous recombination factor with OB-fold	Ovarian dysgenesis 11?0027210	https://raresource.nih.gov/literature/gene/HROB	78995	ENSG00000125319	28460	https://pubmed.ncbi.nlm.nih.gov/?term=HROB	None	None	7284	23
HRURF	HR upstream open reading frame	Hypotrichosis 4?0015078	https://raresource.nih.gov/literature/gene/HRURF	120766137	ENSG00000288677	55085	https://pubmed.ncbi.nlm.nih.gov/?term=HRURF	None	None	None	15
HS3ST6	heparan sulfate-glucosamine 3-sulfotransferase 6	Hereditary angioedema with normal C1inh not related to F12 or PLG variant?0022406;Angioedema, hereditary, 8?0025530	https://raresource.nih.gov/literature/gene/HS3ST6	64711	ENSG00000162040	14178	https://pubmed.ncbi.nlm.nih.gov/?term=HS3ST6	None	None	4870	28
HS6ST1	heparan sulfate 6-O-sulfotransferase 1	Hypogonadism with anosmia?0010771;Hypogonadotropic hypogonadism?0016533;Hypogonadotropic hypogonadism 15 with or without anosmia?0015872	https://raresource.nih.gov/literature/gene/HS6ST1	9394	ENSG00000136720	5201	https://pubmed.ncbi.nlm.nih.gov/?term=HS6ST1	None	None	33051	110
HSCB	HscB mitochondrial iron-sulfur cluster cochaperone	Anemia, sideroblastic, 5?0025559	https://raresource.nih.gov/literature/gene/HSCB	150274	ENSG00000100209	28913	https://pubmed.ncbi.nlm.nih.gov/?term=HSCB	None	None	5787	111
HSD11B1	hydroxysteroid 11-beta dehydrogenase 1	Cortisone reductase deficiency 2?0015830;Cortisone reductase deficiency?0009882	https://raresource.nih.gov/literature/gene/HSD11B1	3290	ENSG00000117594	5208	https://pubmed.ncbi.nlm.nih.gov/?term=HSD11B1	None	None	18505	15094
HSD11B2	hydroxysteroid 11-beta dehydrogenase 2	Apparent mineralocorticoid excess?0000433	https://raresource.nih.gov/literature/gene/HSD11B2	3291	ENSG00000176387	5209	https://pubmed.ncbi.nlm.nih.gov/?term=HSD11B2	None	None	2700	781
HSD17B10	hydroxysteroid 17-beta dehydrogenase 10	HSD10 disease, atypical type?0016749;HSD10 disease, infantile type?0017622;HSD10 mitochondrial disease?0010716;HSD10 disease, neonatal type?0017623	https://raresource.nih.gov/literature/gene/HSD17B10	3028	ENSG00000072506	4800	https://pubmed.ncbi.nlm.nih.gov/?term=HSD17B10	None	None	1023	305
HSD17B3	hydroxysteroid 17-beta dehydrogenase 3	Testosterone 17-beta-dehydrogenase deficiency?0005659	https://raresource.nih.gov/literature/gene/HSD17B3	3293	ENSG00000130948	5212	https://pubmed.ncbi.nlm.nih.gov/?term=HSD17B3	None	None	27469	406
HSD17B4	hydroxysteroid 17-beta dehydrogenase 4	Bifunctional peroxisomal enzyme deficiency?0004539;Perrault syndrome 1?0024656	https://raresource.nih.gov/literature/gene/HSD17B4	3295	ENSG00000133835	5213	https://pubmed.ncbi.nlm.nih.gov/?term=HSD17B4	None	None	53398	1527
HSD3B2	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	3 beta-Hydroxysteroid dehydrogenase deficiency?0009152	https://raresource.nih.gov/literature/gene/HSD3B2	3284	ENSG00000203859	5218	https://pubmed.ncbi.nlm.nih.gov/?term=HSD3B2	None	None	5109	601
HSD3B7	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	Congenital bile acid synthesis defect 1?0009813	https://raresource.nih.gov/literature/gene/HSD3B7	80270	ENSG00000099377	18324	https://pubmed.ncbi.nlm.nih.gov/?term=HSD3B7	None	None	1514	76
HSF2BP	heat shock transcription factor 2 binding protein	Premature ovarian failure 19?0025673	https://raresource.nih.gov/literature/gene/HSF2BP	11077	ENSG00000160207	5226	https://pubmed.ncbi.nlm.nih.gov/?term=HSF2BP	None	None	26014	27
HSF4	heat shock transcription factor 4	Congenital total cataract?0001159;Early-onset lamellar cataract?0013155;Cataract 5 multiple types?0024547	https://raresource.nih.gov/literature/gene/HSF4	3299	ENSG00000102878	5227	https://pubmed.ncbi.nlm.nih.gov/?term=HSF4	None	None	1941	225
HSPA9	heat shock protein family A (Hsp70) member 9	Autosomal dominant sideroblastic anemia?0018380;Autosomal recessive sideroblastic anemia?0017240;Even-plus syndrome?0017913	https://raresource.nih.gov/literature/gene/HSPA9	3313	ENSG00000113013	5244	https://pubmed.ncbi.nlm.nih.gov/?term=HSPA9	None	None	11381	1492
HSPB1	heat shock protein family B (small) member 1	Distal hereditary motor neuropathy type 2?0016954;Neuronopathy, distal hereditary motor, type 2B?0018263;Charcot-Marie-Tooth disease axonal type 2F?0009194	https://raresource.nih.gov/literature/gene/HSPB1	3315	ENSG00000106211	5246	https://pubmed.ncbi.nlm.nih.gov/?term=HSPB1	None	None	2959	5313
HSPB3	heat shock protein family B (small) member 3	Distal hereditary motor neuropathy type 2?0016954;Neuronopathy, distal hereditary motor, type 2C?0018264	https://raresource.nih.gov/literature/gene/HSPB3	8988	ENSG00000169271	5248	https://pubmed.ncbi.nlm.nih.gov/?term=HSPB3	None	None	1589	135
HSPB8	heat shock protein family B (small) member 8	Charcot-Marie-Tooth disease axonal type 2L?0012432;Distal hereditary motor neuropathy type 2?0016954;Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome?0021949;Myopathy, myofibrillar, 13, with rimmed vacuoles?0027428;Neuronopathy, distal hereditary motor, type 2A?0018262	https://raresource.nih.gov/literature/gene/HSPB8	26353	ENSG00000152137	30171	https://pubmed.ncbi.nlm.nih.gov/?term=HSPB8	None	None	4926	611
HSPD1	heat shock protein family D (Hsp60) member 1	Hereditary spastic paraplegia 13?0009616;Hypomyelinating leukodystrophy 4?0017294	https://raresource.nih.gov/literature/gene/HSPD1	3329	ENSG00000144381	5261	https://pubmed.ncbi.nlm.nih.gov/?term=HSPD1	None	None	6298	8312
HSPG2	heparan sulfate proteoglycan 2	Neuromuscular disease caused by qualitative or quantitative defects of perlecan?0020398;Schwartz-Jampel syndrome?0000250;Schwartz-Jampel syndrome type 1?0026212;Lethal Kniest-like syndrome?0002026	https://raresource.nih.gov/literature/gene/HSPG2	3339	ENSG00000142798	5273	https://pubmed.ncbi.nlm.nih.gov/?term=HSPG2	None	None	47448	6855
HTR1A	5-hydroxytryptamine receptor 1A	Menstrual cycle-dependent periodic fever?0022017	https://raresource.nih.gov/literature/gene/HTR1A	3350	ENSG00000178394	5286	https://pubmed.ncbi.nlm.nih.gov/?term=HTR1A	None	None	2574	4
HTRA1	HtrA serine peptidase 1	CARASIL syndrome?0010424;HTRA1-related autosomal dominant cerebral small vessel disease?0017877;Age related macular degeneration 7?0024864;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2?0025015	https://raresource.nih.gov/literature/gene/HTRA1	5654	ENSG00000166033	9476	https://pubmed.ncbi.nlm.nih.gov/?term=HTRA1	None	None	21910	1538
HTRA2	HtrA serine peptidase 2	3-methylglutaconic aciduria type 8?0022050	https://raresource.nih.gov/literature/gene/HTRA2	27429	ENSG00000115317	14348	https://pubmed.ncbi.nlm.nih.gov/?term=HTRA2	None	None	1516	736
HTT	huntingtin	Juvenile Huntington disease?0010510;Huntington disease?0006677	https://raresource.nih.gov/literature/gene/HTT	3064	ENSG00000197386	4851	https://pubmed.ncbi.nlm.nih.gov/?term=HTT	None	None	73404	5805
HUWE1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	Intellectual disability, X-linked syndromic, Turner type?0000081	https://raresource.nih.gov/literature/gene/HUWE1	10075	ENSG00000086758	30892	https://pubmed.ncbi.nlm.nih.gov/?term=HUWE1	None	None	31323	396
HYAL1	hyaluronidase 1	Deficiency of hyaluronoglucosaminidase?0016675	https://raresource.nih.gov/literature/gene/HYAL1	3373	ENSG00000114378	5320	https://pubmed.ncbi.nlm.nih.gov/?term=HYAL1	None	None	8950	8
HYAL2	hyaluronidase 2	Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome?0022068	https://raresource.nih.gov/literature/gene/HYAL2	8692	ENSG00000068001	5321	https://pubmed.ncbi.nlm.nih.gov/?term=HYAL2	None	None	3658	347
HYCC1	hyccin PI4KA lipid kinase complex subunit 1	Hypomyelination and Congenital Cataract?0011980	https://raresource.nih.gov/literature/gene/HYCC1	84668	ENSG00000122591	24587	https://pubmed.ncbi.nlm.nih.gov/?term=HYCC1	None	None	None	147
HYDIN	HYDIN axonemal central pair apparatus protein	Primary ciliary dyskinesia 5?0015438;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/HYDIN	54768	ENSG00000157423	19368	https://pubmed.ncbi.nlm.nih.gov/?term=HYDIN	None	None	110276	98
HYLS1	HYLS1 centriolar and ciliogenesis associated	Joubert syndrome?0006802;Hydrolethalus syndrome 1?0015182;Hydrolethalus syndrome?0006683	https://raresource.nih.gov/literature/gene/HYLS1	219844	ENSG00000198331	26558	https://pubmed.ncbi.nlm.nih.gov/?term=HYLS1	None	None	4191	39
HYMAI	hydatidiform mole associated and imprinted	Diabetes mellitus, transient neonatal, 1?0001839	https://raresource.nih.gov/literature/gene/HYMAI	57061	ENSG00000283122	5326	https://pubmed.ncbi.nlm.nih.gov/?term=HYMAI	None	None	None	32
IARS1	isoleucyl-tRNA synthetase 1	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy?0017980	https://raresource.nih.gov/literature/gene/IARS1	3376	ENSG00000196305	5330	https://pubmed.ncbi.nlm.nih.gov/?term=IARS1	None	None	33688	1292
IARS2	isoleucyl-tRNA synthetase 2, mitochondrial	Leigh syndrome?0006877;Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome?0017727	https://raresource.nih.gov/literature/gene/IARS2	55699	ENSG00000067704	29685	https://pubmed.ncbi.nlm.nih.gov/?term=IARS2	None	None	21302	128
IBA57	iron-sulfur cluster assembly factor IBA57	Hereditary spastic paraplegia 74?0017842;Multiple mitochondrial dysfunctions syndrome 3?0017555	https://raresource.nih.gov/literature/gene/IBA57	200205	ENSG00000181873	27302	https://pubmed.ncbi.nlm.nih.gov/?term=IBA57	None	None	9116	61
ICAM1	intercellular adhesion molecule 1	Malaria?0006961	https://raresource.nih.gov/literature/gene/ICAM1	3383	ENSG00000090339	5344	https://pubmed.ncbi.nlm.nih.gov/?term=ICAM1	None	None	6114	27867
ICOS	inducible T cell costimulator	Immunodeficiency, common variable, 1?0024829	https://raresource.nih.gov/literature/gene/ICOS	29851	ENSG00000163600	5351	https://pubmed.ncbi.nlm.nih.gov/?term=ICOS	None	None	9593	2424
IDH1	isocitrate dehydrogenase (NADP(+)) 1	Acute myeloid leukemia with multilineage dysplasia?0012761;Enchondromatosis?0007251;Maffucci syndrome?0006958;Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria?0016902;Glioma?0006513	https://raresource.nih.gov/literature/gene/IDH1	3417	ENSG00000138413	5382	https://pubmed.ncbi.nlm.nih.gov/?term=IDH1	None	None	8568	9759
IDH2	isocitrate dehydrogenase (NADP(+)) 2	D-2-hydroxyglutaric aciduria 2?0015685;Acute myeloid leukemia with multilineage dysplasia?0012761;Enchondromatosis?0007251;Maffucci syndrome?0006958;D-2-hydroxyglutaric aciduria?0005661	https://raresource.nih.gov/literature/gene/IDH2	3418	ENSG00000182054	5383	https://pubmed.ncbi.nlm.nih.gov/?term=IDH2	None	None	7797	2747
IDH3A	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	Retinitis pigmentosa 90?0025810	https://raresource.nih.gov/literature/gene/IDH3A	3419	ENSG00000166411	5384	https://pubmed.ncbi.nlm.nih.gov/?term=IDH3A	None	None	11138	75
IDH3B	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta	IDH3B-related retinopathy?0026543;Retinitis pigmentosa 46?0015571	https://raresource.nih.gov/literature/gene/IDH3B	3420	ENSG00000101365	5385	https://pubmed.ncbi.nlm.nih.gov/?term=IDH3B	None	None	2551	37
IDS	iduronate 2-sulfatase	Mucopolysaccharidosis type 2, severe form?0017118;Mucopolysaccharidosis, MPS-II?0006675;Mucopolysaccharidosis type 2, attenuated form?0017119	https://raresource.nih.gov/literature/gene/IDS	3423	ENSG00000010404	5389	https://pubmed.ncbi.nlm.nih.gov/?term=IDS	None	None	5470	826
IDUA	alpha-L-iduronidase	Mucopolysaccharidosis, MPS-I-S?0012561;Hurler syndrome?0012559;Mucopolysaccharidosis, MPS-I-H/S?0012560	https://raresource.nih.gov/literature/gene/IDUA	3425	ENSG00000127415	5391	https://pubmed.ncbi.nlm.nih.gov/?term=IDUA	None	None	8672	1297
IER3IP1	immediate early response 3 interacting protein 1	Microcephaly, epilepsy, and diabetes syndrome 1?0018438	https://raresource.nih.gov/literature/gene/IER3IP1	51124	ENSG00000134049	18550	https://pubmed.ncbi.nlm.nih.gov/?term=IER3IP1	None	None	6309	37
IFIH1	interferon induced with helicase C domain 1	IFIH1-related type 1 interferonopathy?0026405;Singleton-Merten syndrome?0000122;Singleton-Merten syndrome 1?0025417;Aicardi Goutieres syndrome?0000575;Aicardi-Goutieres syndrome 7?0016021	https://raresource.nih.gov/literature/gene/IFIH1	64135	ENSG00000115267	18873	https://pubmed.ncbi.nlm.nih.gov/?term=IFIH1	None	None	20255	2899
IFITM5	interferon induced transmembrane protein 5	Osteogenesis imperfecta type 5?0008699	https://raresource.nih.gov/literature/gene/IFITM5	387733	ENSG00000206013	16644	https://pubmed.ncbi.nlm.nih.gov/?term=IFITM5	None	None	1672	142
IFNG	interferon gamma	Aplastic anemia?0020234	https://raresource.nih.gov/literature/gene/IFNG	3458	ENSG00000111537	5438	https://pubmed.ncbi.nlm.nih.gov/?term=IFNG	None	None	2542	72744
IFNGR1	interferon gamma receptor 1	Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency?0017459;Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency?0003011;Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency?0017461	https://raresource.nih.gov/literature/gene/IFNGR1	3459	ENSG00000027697	5439	https://pubmed.ncbi.nlm.nih.gov/?term=IFNGR1	None	None	10602	757
IFNGR2	interferon gamma receptor 2	Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency?0017457;Immunodeficiency 28?0024963;Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency?0021425;Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency?0017460	https://raresource.nih.gov/literature/gene/IFNGR2	3460	ENSG00000159128	5440	https://pubmed.ncbi.nlm.nih.gov/?term=IFNGR2	None	None	10847	315
IFRD1	interferon related developmental regulator 1	Spinocerebellar ataxia type 18?0009976	https://raresource.nih.gov/literature/gene/IFRD1	3475	ENSG00000006652	5456	https://pubmed.ncbi.nlm.nih.gov/?term=IFRD1	None	None	18565	367
IFT122	intraflagellar transport 122	Cranioectodermal dysplasia 1?0025289;Cranioectodermal dysplasia?0000359	https://raresource.nih.gov/literature/gene/IFT122	55764	ENSG00000163913	13556	https://pubmed.ncbi.nlm.nih.gov/?term=IFT122	None	None	33303	221
IFT140	intraflagellar transport 140	Saldino-Mainzer syndrome?0015227;Jeune thoracic dystrophy?0003049;Retinitis pigmentosa 80?0016252;Cranioectodermal dysplasia 5?0027563;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/IFT140	9742	ENSG00000187535	29077	https://pubmed.ncbi.nlm.nih.gov/?term=IFT140	None	None	31398	135
IFT172	intraflagellar transport 172	Short-rib thoracic dysplasia 10 with or without polydactyly?0015993;Bardet-Biedl syndrome?0006866;Jeune thoracic dystrophy?0003049;Retinitis pigmentosa 71?0016101;Bardet-Biedl syndrome 20?0025375	https://raresource.nih.gov/literature/gene/IFT172	26160	ENSG00000138002	30391	https://pubmed.ncbi.nlm.nih.gov/?term=IFT172	None	None	18681	119
IFT27	intraflagellar transport 27	Bardet-Biedl syndrome 19?0016043;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/IFT27	11020	ENSG00000100360	18626	https://pubmed.ncbi.nlm.nih.gov/?term=IFT27	None	None	5255	50
IFT43	intraflagellar transport 43	Retinitis pigmentosa 81?0025817;Short-rib thoracic dysplasia 18 with polydactyly?0025818;Cranioectodermal dysplasia?0000359;Cranioectodermal dysplasia 3?0015757	https://raresource.nih.gov/literature/gene/IFT43	112752	ENSG00000119650	29669	https://pubmed.ncbi.nlm.nih.gov/?term=IFT43	None	None	23896	53
IFT52	intraflagellar transport 52	Short-rib thoracic dysplasia 16 with or without polydactyly?0016189;Cranioectodermal dysplasia?0000359	https://raresource.nih.gov/literature/gene/IFT52	51098	ENSG00000101052	15901	https://pubmed.ncbi.nlm.nih.gov/?term=IFT52	None	None	16642	49
IFT57	intraflagellar transport 57	Orofaciodigital syndrome 18?0022069	https://raresource.nih.gov/literature/gene/IFT57	55081	ENSG00000114446	17367	https://pubmed.ncbi.nlm.nih.gov/?term=IFT57	None	None	20801	74
IFT74	intraflagellar transport 74	Joubert syndrome?0006802;Joubert syndrome 40?0025569;Bardet-Biedl syndrome 22?0016193;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/IFT74	80173	ENSG00000096872	21424	https://pubmed.ncbi.nlm.nih.gov/?term=IFT74	None	None	46339	69
IFT80	intraflagellar transport 80	Asphyxiating thoracic dystrophy 2?0015511;Type IV short rib polydactyly syndrome?0004832;Jeune thoracic dystrophy?0003049	https://raresource.nih.gov/literature/gene/IFT80	57560	ENSG00000068885	29262	https://pubmed.ncbi.nlm.nih.gov/?term=IFT80	None	None	50416	64
IFT81	intraflagellar transport 81	Short-rib thoracic dysplasia 19 with or without polydactyly?0025803	https://raresource.nih.gov/literature/gene/IFT81	28981	ENSG00000122970	14313	https://pubmed.ncbi.nlm.nih.gov/?term=IFT81	None	None	5332	64
IGBP1	immunoglobulin binding protein 1	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome?0012486	https://raresource.nih.gov/literature/gene/IGBP1	3476	ENSG00000089289	5461	https://pubmed.ncbi.nlm.nih.gov/?term=IGBP1	None	None	6952	1149
IGF1	insulin like growth factor 1	Growth delay due to insulin-like growth factor type 1 deficiency?0010627	https://raresource.nih.gov/literature/gene/IGF1	3479	ENSG00000017427	5464	https://pubmed.ncbi.nlm.nih.gov/?term=IGF1	None	None	25437	47783
IGF1R	insulin like growth factor 1 receptor	Growth delay due to insulin-like growth factor I resistance?0010609	https://raresource.nih.gov/literature/gene/IGF1R	3480	ENSG00000140443	5465	https://pubmed.ncbi.nlm.nih.gov/?term=IGF1R	None	None	119180	7169
IGF2	insulin like growth factor 2	Silver-Russell syndrome 3?0018463;Isolated hemihyperplasia?0002630;Silver-Russell syndrome 1?0025253;Beckwith-Wiedemann syndrome?0003343;Wilms tumor 1?0015124	https://raresource.nih.gov/literature/gene/IGF2	3481	ENSG00000167244	5466	https://pubmed.ncbi.nlm.nih.gov/?term=IGF2	None	None	7974	10100
IGF2R	insulin like growth factor 2 receptor	Hepatocellular carcinoma?0016773	https://raresource.nih.gov/literature/gene/IGF2R	3482	ENSG00000197081	5467	https://pubmed.ncbi.nlm.nih.gov/?term=IGF2R	None	None	74115	1488
IGFALS	insulin like growth factor binding protein acid labile subunit	Short stature due to primary acid-labile subunit deficiency?0016964	https://raresource.nih.gov/literature/gene/IGFALS	3483	ENSG00000099769	5468	https://pubmed.ncbi.nlm.nih.gov/?term=IGFALS	None	None	3458	1273
IGFBP7	insulin like growth factor binding protein 7	Familial retinal arterial macroaneurysm?0012779	https://raresource.nih.gov/literature/gene/IGFBP7	3490	ENSG00000163453	5476	https://pubmed.ncbi.nlm.nih.gov/?term=IGFBP7	None	None	29597	1781
IGH	immunoglobulin heavy locus	Mantle cell lymphoma?0006969	https://raresource.nih.gov/literature/gene/IGH	3492		5477	https://pubmed.ncbi.nlm.nih.gov/?term=IGH	None	None	None	6838
IGHM	immunoglobulin heavy constant mu	Autosomal recessive agammaglobulinemia 1?0025227;Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/IGHM	3507		5541	https://pubmed.ncbi.nlm.nih.gov/?term=IGHM	None	None	3904	4056
IGHMBP2	immunoglobulin mu DNA binding protein 2	Charcot-Marie-Tooth disease axonal type 2S?0017751;Autosomal recessive distal spinal muscular atrophy 1?0008592	https://raresource.nih.gov/literature/gene/IGHMBP2	3508	ENSG00000132740	5542	https://pubmed.ncbi.nlm.nih.gov/?term=IGHMBP2	None	None	15709	203
IGKC	immunoglobulin kappa constant	Recurrent infections associated with rare immunoglobulin isotypes deficiency?0017086	https://raresource.nih.gov/literature/gene/IGKC	3514		5716	https://pubmed.ncbi.nlm.nih.gov/?term=IGKC	None	None	None	399
IGLL1	immunoglobulin lambda like polypeptide 1	Agammaglobulinemia 2, autosomal recessive?0015672;Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/IGLL1	3543	ENSG00000128322	5870	https://pubmed.ncbi.nlm.nih.gov/?term=IGLL1	None	None	3807	206
IGSF1	immunoglobulin superfamily member 1	X-linked central congenital hypothyroidism with late-onset testicular enlargement?0017499	https://raresource.nih.gov/literature/gene/IGSF1	3547	ENSG00000147255	5948	https://pubmed.ncbi.nlm.nih.gov/?term=IGSF1	None	None	53845	920
IGSF3	immunoglobulin superfamily member 3	Familial congenital nasolacrimal duct obstruction?0017784	https://raresource.nih.gov/literature/gene/IGSF3	3321	ENSG00000143061	5950	https://pubmed.ncbi.nlm.nih.gov/?term=IGSF3	None	None	33534	260
IHH	Indian hedgehog signaling molecule	Acrocapitofemoral dysplasia?0010605;Brachydactyly type A1?0000978	https://raresource.nih.gov/literature/gene/IHH	3549	ENSG00000163501	5956	https://pubmed.ncbi.nlm.nih.gov/?term=IHH	None	None	4045	1148
IKBKB	inhibitor of nuclear factor kappa B kinase subunit beta	Severe combined immunodeficiency due to IKK2 deficiency?0017641;Immunodeficiency 15a?0018469	https://raresource.nih.gov/literature/gene/IKBKB	3551	ENSG00000104365	5960	https://pubmed.ncbi.nlm.nih.gov/?term=IKBKB	None	None	27184	1004
IKBKG	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	Ectodermal dysplasia and immune deficiency?0009936;Ectodermal dysplasia and immunodeficiency 1?0025232;Autoinflammatory disease, X-linked?0026447;Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome?0016681;Immunodeficiency 33?0012915;Incontinentia pigmenti syndrome?0006778	https://raresource.nih.gov/literature/gene/IKBKG	8517	ENSG00000269335	5961	https://pubmed.ncbi.nlm.nih.gov/?term=IKBKG	None	None	3057	2000
IKZF1	IKAROS family zinc finger 1	Pancytopenia due to IKZF1 mutations?0017442	https://raresource.nih.gov/literature/gene/IKZF1	10320	ENSG00000185811	13176	https://pubmed.ncbi.nlm.nih.gov/?term=IKZF1	None	None	40629	2145
IKZF2	IKAROS family zinc finger 2	IKZF2-related combined immunodeficiency?0027574	https://raresource.nih.gov/literature/gene/IKZF2	22807	ENSG00000030419	13177	https://pubmed.ncbi.nlm.nih.gov/?term=IKZF2	None	None	50468	603
IKZF3	IKAROS family zinc finger 3	B-cell chronic lymphocytic leukemia?0006104	https://raresource.nih.gov/literature/gene/IKZF3	22806	ENSG00000161405	13178	https://pubmed.ncbi.nlm.nih.gov/?term=IKZF3	None	None	32979	473
IKZF5	IKAROS family zinc finger 5	Thrombocytopenia 7?0018492	https://raresource.nih.gov/literature/gene/IKZF5	64376	ENSG00000095574	14283	https://pubmed.ncbi.nlm.nih.gov/?term=IKZF5	None	None	5791	16
IL10	interleukin 10	Graft versus host disease?0016642;IL10-related early-onset inflammatory bowel disease?0013016	https://raresource.nih.gov/literature/gene/IL10	3586	ENSG00000136634	5962	https://pubmed.ncbi.nlm.nih.gov/?term=IL10	None	None	1933	42
IL10RA	interleukin 10 receptor subunit alpha	Inflammatory bowel disease 28?0018343;IL10-related early-onset inflammatory bowel disease?0013016	https://raresource.nih.gov/literature/gene/IL10RA	3587	ENSG00000110324	5964	https://pubmed.ncbi.nlm.nih.gov/?term=IL10RA	None	None	4721	546
IL10RB	interleukin 10 receptor subunit beta	IL10-related early-onset inflammatory bowel disease?0013016;Inflammatory bowel disease 25?0018342	https://raresource.nih.gov/literature/gene/IL10RB	3588	ENSG00000243646	5965	https://pubmed.ncbi.nlm.nih.gov/?term=IL10RB	None	None	8996	414
IL11RA	interleukin 11 receptor subunit alpha	Craniosynostosis and dental anomalies?0017309	https://raresource.nih.gov/literature/gene/IL11RA	3590	ENSG00000137070	5967	https://pubmed.ncbi.nlm.nih.gov/?term=IL11RA	None	None	3993	118
IL12B	interleukin 12B	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency?0012976	https://raresource.nih.gov/literature/gene/IL12B	3593	ENSG00000113302	5970	https://pubmed.ncbi.nlm.nih.gov/?term=IL12B	None	None	6655	1238
IL12RB1	interleukin 12 receptor subunit beta 1	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency?0010984	https://raresource.nih.gov/literature/gene/IL12RB1	3594	ENSG00000096996	5971	https://pubmed.ncbi.nlm.nih.gov/?term=IL12RB1	None	None	12725	273
IL17F	interleukin 17F	Chronic mucocutaneous candidiasis?0001077;Candidiasis, familial, 6?0015093	https://raresource.nih.gov/literature/gene/IL17F	112744	ENSG00000112116	16404	https://pubmed.ncbi.nlm.nih.gov/?term=IL17F	None	None	4272	2941
IL17RA	interleukin 17 receptor A	Chronic mucocutaneous candidiasis?0001077;Immunodeficiency 51?0015732	https://raresource.nih.gov/literature/gene/IL17RA	23765	ENSG00000177663	5985	https://pubmed.ncbi.nlm.nih.gov/?term=IL17RA	None	None	10792	961
IL17RC	interleukin 17 receptor C	Candidiasis, familial, 9?0016114;Chronic mucocutaneous candidiasis?0001077	https://raresource.nih.gov/literature/gene/IL17RC	84818	ENSG00000163702	18358	https://pubmed.ncbi.nlm.nih.gov/?term=IL17RC	None	None	7951	126
IL17RD	interleukin 17 receptor D	Hypogonadism with anosmia?0010771;Hypogonadotropic hypogonadism 18 with or without anosmia?0015929	https://raresource.nih.gov/literature/gene/IL17RD	54756	ENSG00000144730	17616	https://pubmed.ncbi.nlm.nih.gov/?term=IL17RD	None	None	33827	194
IL1B	interleukin 1 beta	Gastric cancer?0007704	https://raresource.nih.gov/literature/gene/IL1B	3553	ENSG00000125538	5992	https://pubmed.ncbi.nlm.nih.gov/?term=IL1B	None	None	3648	435
IL1RAPL1	interleukin 1 receptor accessory protein like 1	Non-syndromic X-linked intellectual disability?0018640;Intellectual disability, X-linked 21?0022669	https://raresource.nih.gov/literature/gene/IL1RAPL1	11141	ENSG00000169306	5996	https://pubmed.ncbi.nlm.nih.gov/?term=IL1RAPL1	None	None	245800	156
IL1RN	interleukin 1 receptor antagonist	Gastric cancer?0007704;Sterile multifocal osteomyelitis with periostitis and pustulosis?0010516	https://raresource.nih.gov/literature/gene/IL1RN	3557	ENSG00000136689	6000	https://pubmed.ncbi.nlm.nih.gov/?term=IL1RN	None	None	10992	9052
IL21	interleukin 21	IL21-related infantile inflammatory bowel disease?0017852	https://raresource.nih.gov/literature/gene/IL21	59067	ENSG00000138684	6005	https://pubmed.ncbi.nlm.nih.gov/?term=IL21	None	None	5003	4369
IL21R	interleukin 21 receptor	Cryptosporidiosis-chronic cholangitis-liver disease syndrome?0017550	https://raresource.nih.gov/literature/gene/IL21R	50615	ENSG00000103522	6006	https://pubmed.ncbi.nlm.nih.gov/?term=IL21R	None	None	17788	366
IL2RA	interleukin 2 receptor subunit alpha	Immunodeficiency due to CD25 deficiency?0017049	https://raresource.nih.gov/literature/gene/IL2RA	3559	ENSG00000134460	6008	https://pubmed.ncbi.nlm.nih.gov/?term=IL2RA	None	None	21563	2
IL2RG	interleukin 2 receptor subunit gamma	Combined immunodeficiency, X-linked?0024751;X-linked severe combined immunodeficiency?0005618	https://raresource.nih.gov/literature/gene/IL2RG	3561	ENSG00000147168	6010	https://pubmed.ncbi.nlm.nih.gov/?term=IL2RG	None	None	1306	1260
IL31RA	interleukin 31 receptor A	Amyloidosis, primary localized cutaneous, 2?0018638;Familial primary localized cutaneous amyloidosis?0017533	https://raresource.nih.gov/literature/gene/IL31RA	133396	ENSG00000164509	18969	https://pubmed.ncbi.nlm.nih.gov/?term=IL31RA	None	None	32479	997
IL36RN	interleukin 36 receptor antagonist	Acrodermatitis continua suppurativa of Hallopeau?0017679;Generalized pustular psoriasis?0026245;Palmoplantar pustulosis?0012820	https://raresource.nih.gov/literature/gene/IL36RN	26525	ENSG00000136695	15561	https://pubmed.ncbi.nlm.nih.gov/?term=IL36RN	None	None	3408	422
IL6	interleukin 6	Cerebral arteriovenous malformation?0003020;Systemic-onset juvenile idiopathic arthritis?0010966;Inflammatory bowel disease 1?0009857	https://raresource.nih.gov/literature/gene/IL6	3569	ENSG00000136244	6018	https://pubmed.ncbi.nlm.nih.gov/?term=IL6	None	None	3676	194750
IL6R	interleukin 6 receptor	Hyper-IgE recurrent infection syndrome 5, autosomal recessive?0025521;Autosomal recessive combined immunodeficiency due to IL6R deficiency?0026938	https://raresource.nih.gov/literature/gene/IL6R	3570	ENSG00000160712	6019	https://pubmed.ncbi.nlm.nih.gov/?term=IL6R	None	None	10624	10557
IL6ST	interleukin 6 cytokine family signal transducer	Immunodeficiency 94 with autoinflammation and dysmorphic facies?0025610;Hyper-IgE recurrent infection syndrome 4A, autosomal dominant?0026449;Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency?0026937;Hyper-IgE recurrent infection syndrome 4, autosomal recessive?0025747;Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency?0026935;Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency?0026936	https://raresource.nih.gov/literature/gene/IL6ST	3572	ENSG00000134352	6021	https://pubmed.ncbi.nlm.nih.gov/?term=IL6ST	None	None	22782	3344
IL7	interleukin 7	Epidermodysplasia verruciformis?0006357	https://raresource.nih.gov/literature/gene/IL7	3574	ENSG00000104432	6023	https://pubmed.ncbi.nlm.nih.gov/?term=IL7	None	None	29254	6284
IL7R	interleukin 7 receptor	Immunodeficiency 104?0018293;T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency?0017051	https://raresource.nih.gov/literature/gene/IL7R	3575	ENSG00000168685	6024	https://pubmed.ncbi.nlm.nih.gov/?term=IL7R	None	None	13147	2705
ILDR1	immunoglobulin like domain containing receptor 1	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 42?0022614	https://raresource.nih.gov/literature/gene/ILDR1	286676	ENSG00000145103	28741	https://pubmed.ncbi.nlm.nih.gov/?term=ILDR1	None	None	13457	55
IMPA1	inositol monophosphatase 1	Intellectual disability, autosomal recessive 59?0025053;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/IMPA1	3612	ENSG00000133731	6050	https://pubmed.ncbi.nlm.nih.gov/?term=IMPA1	None	None	12488	1295
IMPDH1	inosine monophosphate dehydrogenase 1	Retinitis pigmentosa 10?0015110;Leber congenital amaurosis?0000634;Leber congenital amaurosis 11?0010488;IMPDH1-related retinopathy?0027253	https://raresource.nih.gov/literature/gene/IMPDH1	3614	ENSG00000106348	6052	https://pubmed.ncbi.nlm.nih.gov/?term=IMPDH1	None	None	8668	208
IMPG1	interphotoreceptor matrix proteoglycan 1	IMPG1-related dominant retinopathy?0027239;Vitelliform macular dystrophy 4?0016064;IMPG1-related recessive retinopathy?0027240;Benign concentric annular macular dystrophy?0009887;Adult-onset foveomacular vitelliform dystrophy?0010909	https://raresource.nih.gov/literature/gene/IMPG1	3617	ENSG00000112706	6055	https://pubmed.ncbi.nlm.nih.gov/?term=IMPG1	None	None	58187	45
IMPG2	interphotoreceptor matrix proteoglycan 2	IMPG2-related recessive retinopathy?0026390;Vitelliform macular dystrophy 5?0016065;Retinitis pigmentosa 56?0015678;Adult-onset foveomacular vitelliform dystrophy?0010909;IMPG2-related dominant retinopathy?0026391	https://raresource.nih.gov/literature/gene/IMPG2	50939	ENSG00000081148	18362	https://pubmed.ncbi.nlm.nih.gov/?term=IMPG2	None	None	36105	59
INF2	inverted formin 2	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Focal segmental glomerulosclerosis 5?0015636;Charcot-Marie-Tooth disease dominant intermediate E?0012011	https://raresource.nih.gov/literature/gene/INF2	64423	ENSG00000203485	23791	https://pubmed.ncbi.nlm.nih.gov/?term=INF2	None	None	11517	231
ING1	inhibitor of growth family member 1	Oral cavity squamous cell carcinoma?0017932;Squamous cell carcinoma of the head and neck?0008503;Oropharyngeal squamous cell carcinoma?0017928;Laryngeal squamous cell carcinoma?0017908;Paranasal sinus squamous cell carcinoma?0017927;Hypopharynx squamous cell carcinoma?0017907;Squamous cell carcinoma of lip?0017933	https://raresource.nih.gov/literature/gene/ING1	3621	ENSG00000153487	6062	https://pubmed.ncbi.nlm.nih.gov/?term=ING1	None	None	6316	2435
INHBA	inhibin subunit beta A	Ovarian adenocarcinoma?0020466	https://raresource.nih.gov/literature/gene/INHBA	3624	ENSG00000122641	6066	https://pubmed.ncbi.nlm.nih.gov/?term=INHBA	None	None	15537	850
INPP5E	inositol polyphosphate-5-phosphatase E	MORM syndrome?0010121;Joubert syndrome?0006802;COACH syndrome?0001410;Joubert syndrome 1?0024643;Joubert syndrome with ocular defect?0010168	https://raresource.nih.gov/literature/gene/INPP5E	56623	ENSG00000148384	21474	https://pubmed.ncbi.nlm.nih.gov/?term=INPP5E	None	None	6576	177
INPP5K	inositol polyphosphate-5-phosphatase K	Congenital muscular dystrophy with cataracts and intellectual disability?0025435	https://raresource.nih.gov/literature/gene/INPP5K	51763	ENSG00000132376	33882	https://pubmed.ncbi.nlm.nih.gov/?term=INPP5K	None	None	8884	407
INPPL1	inositol polyphosphate phosphatase like 1	Opsismodysplasia?0004098	https://raresource.nih.gov/literature/gene/INPPL1	3636	ENSG00000165458	6080	https://pubmed.ncbi.nlm.nih.gov/?term=INPPL1	None	None	5228	391
INS	insulin	Permanent neonatal diabetes mellitus?0010457;Maturity-onset diabetes of the young type 10?0015652;Diabetes mellitus, permanent neonatal 4?0016390;Maturity onset diabetes mellitus in young?0003697	https://raresource.nih.gov/literature/gene/INS	3630	ENSG00000254647	6081	https://pubmed.ncbi.nlm.nih.gov/?term=INS	None	None	197	360677
INSR	insulin receptor	Insulin-resistant diabetes mellitus AND acanthosis nigricans?0003008;Rabson-Mendenhall syndrome?0000226;Leprechaunism syndrome?0006885;Hyperinsulinism due to INSR deficiency?0017256	https://raresource.nih.gov/literature/gene/INSR	3643	ENSG00000171105	6091	https://pubmed.ncbi.nlm.nih.gov/?term=INSR	None	None	66651	13009
INTU	inturned planar cell polarity protein	Orofaciodigital syndrome 17?0025800;INTU-related skeletal ciliopathy?0027598;Short-rib thoracic dysplasia 20 with polydactyly?0025897	https://raresource.nih.gov/literature/gene/INTU	27152	ENSG00000164066	29239	https://pubmed.ncbi.nlm.nih.gov/?term=INTU	None	None	33120	848
INVS	inversin	Infantile nephronophthisis?0018182;Renal dysplasia and retinal aplasia?0000322	https://raresource.nih.gov/literature/gene/INVS	27130	ENSG00000119509	17870	https://pubmed.ncbi.nlm.nih.gov/?term=INVS	None	None	72142	641
IPMK	inositol polyphosphate multikinase	Hereditary neuroendocrine tumor of small intestine?0021899	https://raresource.nih.gov/literature/gene/IPMK	253430	ENSG00000151151	20739	https://pubmed.ncbi.nlm.nih.gov/?term=IPMK	None	None	29802	160
IPO8	importin 8	Loeys-Dietz syndrome?0010788;Ehlers-Danlos syndrome, type 4?0002082	https://raresource.nih.gov/literature/gene/IPO8	10526	ENSG00000133704	9853	https://pubmed.ncbi.nlm.nih.gov/?term=IPO8	None	None	16262	85
IPW	imprinted in Prader-Willi syndrome	Prader-Willi syndrome?0005575	https://raresource.nih.gov/literature/gene/IPW	3653		6109	https://pubmed.ncbi.nlm.nih.gov/?term=IPW	None	None	None	59
IQCB1	IQ motif containing B1	Leber congenital amaurosis?0000634;Senior-Loken syndrome 5?0015451;Renal dysplasia and retinal aplasia?0000322	https://raresource.nih.gov/literature/gene/IQCB1	9657	ENSG00000173226	28949	https://pubmed.ncbi.nlm.nih.gov/?term=IQCB1	None	None	24256	12
IQCE	IQ motif containing E	Polydactyly, postaxial, type a7?0025999;Postaxial polydactyly type A?0016817	https://raresource.nih.gov/literature/gene/IQCE	23288	ENSG00000106012	29171	https://pubmed.ncbi.nlm.nih.gov/?term=IQCE	None	None	27910	26
IQSEC1	IQ motif and Sec7 domain ArfGEF 1	Intellectual developmental disorder with short stature and behavioral abnormalities?0022581;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/IQSEC1	9922	ENSG00000144711	29112	https://pubmed.ncbi.nlm.nih.gov/?term=IQSEC1	None	None	146313	55
IQSEC2	IQ motif and Sec7 domain ArfGEF 2	Intellectual disability, X-linked 1?0022699;Non-syndromic X-linked intellectual disability?0018640	https://raresource.nih.gov/literature/gene/IQSEC2	23096	ENSG00000124313	29059	https://pubmed.ncbi.nlm.nih.gov/?term=IQSEC2	None	None	16905	140
IRAK4	interleukin 1 receptor associated kinase 4	Immunodeficiency 67?0010311	https://raresource.nih.gov/literature/gene/IRAK4	51135	ENSG00000198001	17967	https://pubmed.ncbi.nlm.nih.gov/?term=IRAK4	None	None	None	1022
IREB2	iron responsive element binding protein 2	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia?0027271	https://raresource.nih.gov/literature/gene/IREB2	3658	ENSG00000136381	6115	https://pubmed.ncbi.nlm.nih.gov/?term=IREB2	None	None	17885	714
IRF1	interferon regulatory factor 1	Gastric cancer?0007704	https://raresource.nih.gov/literature/gene/IRF1	3659	ENSG00000125347	6116	https://pubmed.ncbi.nlm.nih.gov/?term=IRF1	None	None	573	50
IRF2BP2	interferon regulatory factor 2 binding protein 2	Immunodeficiency, common variable, 14?0025961	https://raresource.nih.gov/literature/gene/IRF2BP2	359948	ENSG00000168264	21729	https://pubmed.ncbi.nlm.nih.gov/?term=IRF2BP2	None	None	5230	140
IRF2BPL	interferon regulatory factor 2 binding protein like	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures?0022396	https://raresource.nih.gov/literature/gene/IRF2BPL	64207	ENSG00000119669	14282	https://pubmed.ncbi.nlm.nih.gov/?term=IRF2BPL	None	None	4496	133
IRF6	interferon regulatory factor 6	Autosomal dominant popliteal pterygium syndrome?0003242;Hypodontia?0016908;Van der Woude syndrome?0008414;Van der Woude syndrome 1?0024552	https://raresource.nih.gov/literature/gene/IRF6	3664	ENSG00000117595	6121	https://pubmed.ncbi.nlm.nih.gov/?term=IRF6	None	None	8560	2095
IRF7	interferon regulatory factor 7	Immunodeficiency 39?0025005	https://raresource.nih.gov/literature/gene/IRF7	3665	ENSG00000185507	6122	https://pubmed.ncbi.nlm.nih.gov/?term=IRF7	None	None	2606	2257
IRF8	interferon regulatory factor 8	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency?0017463;Immunodeficiency 32B?0009534	https://raresource.nih.gov/literature/gene/IRF8	3394	ENSG00000140968	5358	https://pubmed.ncbi.nlm.nih.gov/?term=IRF8	None	None	9321	1296
IRS4	insulin receptor substrate 4	Hypothyroidism, congenital, nongoitrous, 9?0025487	https://raresource.nih.gov/literature/gene/IRS4	8471	ENSG00000133124	6128	https://pubmed.ncbi.nlm.nih.gov/?term=IRS4	None	None	2022	178
IRX5	iroquois homeobox 5	Craniofacial dysplasia - osteopenia syndrome?0017422	https://raresource.nih.gov/literature/gene/IRX5	10265	ENSG00000176842	14361	https://pubmed.ncbi.nlm.nih.gov/?term=IRX5	None	None	2620	149
ISCA1	iron-sulfur cluster assembly 1	Multiple mitochondrial dysfunctions syndrome 5?0022305	https://raresource.nih.gov/literature/gene/ISCA1	81689	ENSG00000135070	28660	https://pubmed.ncbi.nlm.nih.gov/?term=ISCA1	None	None	8224	139
ISCA2	iron-sulfur cluster assembly 2	Multiple mitochondrial dysfunctions syndrome 4?0017809	https://raresource.nih.gov/literature/gene/ISCA2	122961	ENSG00000165898	19857	https://pubmed.ncbi.nlm.nih.gov/?term=ISCA2	None	None	1072	103
ISCU	iron-sulfur cluster assembly enzyme	Hereditary myopathy with lactic acidosis due to ISCU deficiency?0016643	https://raresource.nih.gov/literature/gene/ISCU	23479	ENSG00000136003	29882	https://pubmed.ncbi.nlm.nih.gov/?term=ISCU	None	None	2245	618
ISG15	ISG15 ubiquitin like modifier	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency?0017458	https://raresource.nih.gov/literature/gene/ISG15	9636	ENSG00000187608	4053	https://pubmed.ncbi.nlm.nih.gov/?term=ISG15	None	None	6982	2213
ITCH	itchy E3 ubiquitin protein ligase	Syndromic multisystem autoimmune disease due to ITCH deficiency?0010775	https://raresource.nih.gov/literature/gene/ITCH	83737	ENSG00000078747	13890	https://pubmed.ncbi.nlm.nih.gov/?term=ITCH	None	None	46301	706
ITGA2B	integrin subunit alpha 2b	Platelet-type bleeding disorder 16?0024629;Glanzmann thrombasthenia 1?0015240;Autosomal dominant macrothrombocytopenia?0016965;Glanzmann thrombasthenia?0002478	https://raresource.nih.gov/literature/gene/ITGA2B	3674	ENSG00000005961	6138	https://pubmed.ncbi.nlm.nih.gov/?term=ITGA2B	None	None	8459	4087
ITGA3	integrin subunit alpha 3	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome?0017377	https://raresource.nih.gov/literature/gene/ITGA3	3675	ENSG00000005884	6139	https://pubmed.ncbi.nlm.nih.gov/?term=ITGA3	None	None	9853	443
ITGA6	integrin subunit alpha 6	Epidermolysis bullosa, junctional 6, with pyloric atresia?0026673	https://raresource.nih.gov/literature/gene/ITGA6	3655	ENSG00000091409	6142	https://pubmed.ncbi.nlm.nih.gov/?term=ITGA6	None	None	30438	1311
ITGA7	integrin subunit alpha 7	Congenital muscular dystrophy due to integrin alpha-7 deficiency?0012587;Congenital myopathy with fiber type disproportion?0006161	https://raresource.nih.gov/literature/gene/ITGA7	3679	ENSG00000135424	6143	https://pubmed.ncbi.nlm.nih.gov/?term=ITGA7	None	None	8138	190
ITGA8	integrin subunit alpha 8	Bilateral renal agenesis?0016579;Renal hypodysplasia/aplasia 1?0004791	https://raresource.nih.gov/literature/gene/ITGA8	8516	ENSG00000077943	6144	https://pubmed.ncbi.nlm.nih.gov/?term=ITGA8	None	None	88083	163
ITGB2	integrin subunit beta 2	Leukocyte adhesion deficiency 1?0006893	https://raresource.nih.gov/literature/gene/ITGB2	3689	ENSG00000160255	6155	https://pubmed.ncbi.nlm.nih.gov/?term=ITGB2	None	None	19023	11596
ITGB3	integrin subunit beta 3	Glanzmann thrombasthenia 2?0016439;Autosomal dominant macrothrombocytopenia?0016965;Glanzmann thrombasthenia?0002478;Bleeding disorder, platelet-type, 24?0018273	https://raresource.nih.gov/literature/gene/ITGB3	3690	ENSG00000259207	6156	https://pubmed.ncbi.nlm.nih.gov/?term=ITGB3	None	None	19545	12
ITGB4	integrin subunit beta 4	Localized junctional epidermolysis bullosa, non-Herlitz type?0012923;Epidermolysis bullosa, junctional 5A, intermediate?0025634;Junctional epidermolysis bullosa with pyloric atresia?0009694;Generalized junctional epidermolysis bullosa non-Herlitz type?0012922	https://raresource.nih.gov/literature/gene/ITGB4	3691	ENSG00000132470	6158	https://pubmed.ncbi.nlm.nih.gov/?term=ITGB4	None	None	11164	600
ITGB6	integrin subunit beta 6	Amelogenesis imperfecta, hypocalcification type?0016931;Amelogenesis imperfecta type 1?0000645;Alopecia - intellectual disability syndrome?0000612;Amelogenesis imperfecta type 1H?0016071	https://raresource.nih.gov/literature/gene/ITGB6	3694	ENSG00000115221	6161	https://pubmed.ncbi.nlm.nih.gov/?term=ITGB6	None	None	40586	233
ITK	IL2 inducible T cell kinase	Lymphoproliferative syndrome 1?0017979	https://raresource.nih.gov/literature/gene/ITK	3702	ENSG00000113263	6171	https://pubmed.ncbi.nlm.nih.gov/?term=ITK	None	None	29772	910
ITM2B	integral membrane protein 2B	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies?0017640;ADan amyloidosis?0009169;ABri amyloidosis?0008344	https://raresource.nih.gov/literature/gene/ITM2B	9445	ENSG00000136156	6174	https://pubmed.ncbi.nlm.nih.gov/?term=ITM2B	None	None	9811	271
ITPA	inosine triphosphatase	Developmental and epileptic encephalopathy, 35?0017806	https://raresource.nih.gov/literature/gene/ITPA	3704	ENSG00000125877	6176	https://pubmed.ncbi.nlm.nih.gov/?term=ITPA	None	None	5671	928
ITPR1	inositol 1,4,5-trisphosphate receptor type 1	Gillespie syndrome?0000013;Spinocerebellar ataxia type 15/16?0010477;Spinocerebellar ataxia type 29?0010480	https://raresource.nih.gov/literature/gene/ITPR1	3708	ENSG00000150995	6180	https://pubmed.ncbi.nlm.nih.gov/?term=ITPR1	None	None	146633	3014
ITPR2	inositol 1,4,5-trisphosphate receptor type 2	Isolated anhidrosis with normal sweat glands?0017843	https://raresource.nih.gov/literature/gene/ITPR2	3709	ENSG00000123104	6181	https://pubmed.ncbi.nlm.nih.gov/?term=ITPR2	None	None	115980	1128
ITPR3	inositol 1,4,5-trisphosphate receptor type 3	Charcot-Marie-Tooth disease, demyelinating, type 1J?0026691	https://raresource.nih.gov/literature/gene/ITPR3	3710	ENSG00000096433	6182	https://pubmed.ncbi.nlm.nih.gov/?term=ITPR3	None	None	27401	2424
ITSN1	intersectin 1	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/ITSN1	6453	ENSG00000205726	6183	https://pubmed.ncbi.nlm.nih.gov/?term=ITSN1	None	None	86013	201
IVD	isovaleryl-CoA dehydrogenase	Isovaleryl-CoA dehydrogenase deficiency?0000465	https://raresource.nih.gov/literature/gene/IVD	3712	ENSG00000128928	6186	https://pubmed.ncbi.nlm.nih.gov/?term=IVD	None	None	5801	275
IYD	iodotyrosine deiodinase	Iodotyrosine deiodination defect?0018191;Familial thyroid dyshormonogenesis?0016843	https://raresource.nih.gov/literature/gene/IYD	389434	ENSG00000009765	21071	https://pubmed.ncbi.nlm.nih.gov/?term=IYD	None	None	16372	118
JAG1	jagged canonical Notch ligand 1	Tetralogy of Fallot?0002245;Alagille syndrome due to a JAG1 point mutation?0017251;Charcot-Marie-Tooth disease, axonal, Type 2HH?0025568	https://raresource.nih.gov/literature/gene/JAG1	182	ENSG00000101384	6188	https://pubmed.ncbi.nlm.nih.gov/?term=JAG1	None	None	11157	2074
JAG2	jagged canonical Notch ligand 2	Muscular dystrophy, limb-girdle, autosomal recessive 27?0025567	https://raresource.nih.gov/literature/gene/JAG2	3714	ENSG00000184916	6189	https://pubmed.ncbi.nlm.nih.gov/?term=JAG2	None	None	12202	345
JAGN1	jagunal homolog 1	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency?0017702	https://raresource.nih.gov/literature/gene/JAGN1	84522	ENSG00000171135	26926	https://pubmed.ncbi.nlm.nih.gov/?term=JAGN1	None	None	3451	36
JAK1	Janus kinase 1	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency?0022319;Breast implant-associated anaplastic large cell lymphoma?0026577	https://raresource.nih.gov/literature/gene/JAK1	3716	ENSG00000162434	6190	https://pubmed.ncbi.nlm.nih.gov/?term=JAK1	None	None	85530	5262
JAK2	Janus kinase 2	Acquired polycythemia vera?0007422;Acute myeloid leukemia?0012757;Primary familial polycythemia due to EPO receptor mutation?0009843;Budd-Chiari syndrome?0005968;Familial thrombocytosis?0016688;Thrombocythemia 3?0024950;Primary myelofibrosis?0008618;Essential thrombocythemia?0006594	https://raresource.nih.gov/literature/gene/JAK2	3717	ENSG00000096968	6192	https://pubmed.ncbi.nlm.nih.gov/?term=JAK2	None	None	71319	15542
JAK3	Janus kinase 3	T-B+ severe combined immunodeficiency due to JAK3 deficiency?0016632	https://raresource.nih.gov/literature/gene/JAK3	3718	ENSG00000105639	6193	https://pubmed.ncbi.nlm.nih.gov/?term=JAK3	None	None	10444	2349
JAM2	junctional adhesion molecule 2	Bilateral striopallidodentate calcinosis?0006406;Basal ganglia calcification, idiopathic, 8, autosomal recessive?0016384	https://raresource.nih.gov/literature/gene/JAM2	58494	ENSG00000154721	14686	https://pubmed.ncbi.nlm.nih.gov/?term=JAM2	None	None	24531	255
JAM3	junctional adhesion molecule 3	Porencephaly-microcephaly-bilateral congenital cataract syndrome?0017380	https://raresource.nih.gov/literature/gene/JAM3	83700	ENSG00000166086	15532	https://pubmed.ncbi.nlm.nih.gov/?term=JAM3	None	None	27404	355
JPH1	junctophilin 1	Congenital myopathy 25?0027321	https://raresource.nih.gov/literature/gene/JPH1	56704	ENSG00000104369	14201	https://pubmed.ncbi.nlm.nih.gov/?term=JPH1	None	None	29268	69
JPH2	junctophilin 2	Hypertrophic cardiomyopathy 17?0024929;Cardiomyopathy, dilated, 2E?0025554;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/JPH2	57158	ENSG00000149596	14202	https://pubmed.ncbi.nlm.nih.gov/?term=JPH2	None	None	21959	235
JPH3	junctophilin 3	Huntington disease-like 2?0016874	https://raresource.nih.gov/literature/gene/JPH3	57338	ENSG00000154118	14203	https://pubmed.ncbi.nlm.nih.gov/?term=JPH3	None	None	37616	1080
JUP	junction plakoglobin	Arrhythmogenic right ventricular dysplasia 12?0024880;Familial isolated arrhythmogenic ventricular dysplasia, biventricular form?0017346;Naxos disease?0009795;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form?0017347;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form?0017345	https://raresource.nih.gov/literature/gene/JUP	3728	ENSG00000173801	6207	https://pubmed.ncbi.nlm.nih.gov/?term=JUP	None	None	12249	1884
KANK1	KN motif and ankyrin repeat domains 1	Cerebral palsy, spastic quadriplegic, 2?0018309;Spastic quadriplegic cerebral palsy?0017109	https://raresource.nih.gov/literature/gene/KANK1	23189	ENSG00000107104	19309	https://pubmed.ncbi.nlm.nih.gov/?term=KANK1	None	None	136939	154
KANK2	KN motif and ankyrin repeat domains 2	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Wooly hair-palmoplantar keratoderma syndrome?0017697	https://raresource.nih.gov/literature/gene/KANK2	25959	ENSG00000197256	29300	https://pubmed.ncbi.nlm.nih.gov/?term=KANK2	None	None	12479	1
KANSL1	KAT8 regulatory NSL complex subunit 1	Koolen-de Vries syndrome?0010727;Koolen-de Vries syndrome due to a point mutation?0021559	https://raresource.nih.gov/literature/gene/KANSL1	284058	ENSG00000120071	24565	https://pubmed.ncbi.nlm.nih.gov/?term=KANSL1	None	None	59377	190
KARS1	lysyl-tRNA synthetase 1	Autosomal recessive nonsyndromic hearing loss 89?0022640;Hearing loss, autosomal recessive?0018117;Central nervous system calcification-deafness-tubular acidosis-anemia syndrome?0018789;Adult-onset progressive leukoencephalopathy-early-onset deafness?0026925;Charcot-Marie-Tooth disease recessive intermediate B?0012454	https://raresource.nih.gov/literature/gene/KARS1	3735	ENSG00000065427	6215	https://pubmed.ncbi.nlm.nih.gov/?term=KARS1	None	None	9937	382
KASH5	KASH domain containing 5	Premature ovarian failure 22?0026881	https://raresource.nih.gov/literature/gene/KASH5	147872	ENSG00000161609	26520	https://pubmed.ncbi.nlm.nih.gov/?term=KASH5	None	None	None	30
KAT6A	lysine acetyltransferase 6A	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome?0017797	https://raresource.nih.gov/literature/gene/KAT6A	7994	ENSG00000083168	13013	https://pubmed.ncbi.nlm.nih.gov/?term=KAT6A	None	None	53979	436
KAT6B	lysine acetyltransferase 6B	Blepharophimosis - intellectual disability syndrome, SBBYS type?0016618;Genitopatellar syndrome?0010994;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/KAT6B	23522	ENSG00000156650	17582	https://pubmed.ncbi.nlm.nih.gov/?term=KAT6B	None	None	83280	288
KAT8	lysine acetyltransferase 8	Li-Ghorbani-Weisz-Hubshman syndrome?0018526	https://raresource.nih.gov/literature/gene/KAT8	84148	ENSG00000103510	17933	https://pubmed.ncbi.nlm.nih.gov/?term=KAT8	None	None	7419	413
KATNB1	katanin regulatory subunit B1	Lissencephaly 6 with microcephaly?0024999	https://raresource.nih.gov/literature/gene/KATNB1	10300	ENSG00000140854	6217	https://pubmed.ncbi.nlm.nih.gov/?term=KATNB1	None	None	5965	388
KATNIP	katanin interacting protein	Joubert syndrome?0006802;Joubert syndrome 26?0016160	https://raresource.nih.gov/literature/gene/KATNIP	23247	ENSG00000047578	29068	https://pubmed.ncbi.nlm.nih.gov/?term=KATNIP	None	None	None	16
KBTBD13	kelch repeat and BTB domain containing 13	Nemaline myopathy 6?0015452;Childhood-onset nemaline myopathy?0007171	https://raresource.nih.gov/literature/gene/KBTBD13	390594	ENSG00000234438	37227	https://pubmed.ncbi.nlm.nih.gov/?term=KBTBD13	None	None	1966	22
KCNA1	potassium voltage-gated channel subfamily A member 1	Episodic kinesigenic dyskinesia?0008721;Hereditary continuous muscle fiber activity?0001512;Isolated autosomal dominant hypomagnesemia, Glaudemans type?0020334;Episodic ataxia type 1?0016641	https://raresource.nih.gov/literature/gene/KCNA1	3736	ENSG00000111262	6218	https://pubmed.ncbi.nlm.nih.gov/?term=KCNA1	None	None	4093	966
KCNA2	potassium voltage-gated channel subfamily A member 2	Developmental and epileptic encephalopathy, 32?0016096;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/KCNA2	3737	ENSG00000177301	6220	https://pubmed.ncbi.nlm.nih.gov/?term=KCNA2	None	None	40451	1414
KCNA5	potassium voltage-gated channel subfamily A member 5	Atrial fibrillation, familial, 7?0015545;Familial atrial fibrillation?0009740	https://raresource.nih.gov/literature/gene/KCNA5	3741	ENSG00000130037	6224	https://pubmed.ncbi.nlm.nih.gov/?term=KCNA5	None	None	2757	2955
KCNB1	potassium voltage-gated channel subfamily B member 1	Developmental and epileptic encephalopathy, 26?0012391;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/KCNB1	3745	ENSG00000158445	6231	https://pubmed.ncbi.nlm.nih.gov/?term=KCNB1	None	None	47698	765
KCNC1	potassium voltage-gated channel subfamily C member 1	Progressive myoclonic epilepsy type 7?0017715	https://raresource.nih.gov/literature/gene/KCNC1	3746	ENSG00000129159	6233	https://pubmed.ncbi.nlm.nih.gov/?term=KCNC1	None	None	19951	451
KCNC2	potassium voltage-gated channel subfamily C member 2	Developmental and epileptic encephalopathy 103?0025667;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/KCNC2	3747	ENSG00000166006	6234	https://pubmed.ncbi.nlm.nih.gov/?term=KCNC2	None	None	44196	84
KCNC3	potassium voltage-gated channel subfamily C member 3	Spinocerebellar ataxia type 13?0009611	https://raresource.nih.gov/literature/gene/KCNC3	3748	ENSG00000131398	6235	https://pubmed.ncbi.nlm.nih.gov/?term=KCNC3	None	None	7595	141
KCND3	potassium voltage-gated channel subfamily D member 3	Brugada syndrome 9?0016104;Spinocerebellar ataxia type 19/22?0012365	https://raresource.nih.gov/literature/gene/KCND3	3752	ENSG00000171385	6239	https://pubmed.ncbi.nlm.nih.gov/?term=KCND3	None	None	75604	642
KCNE1	potassium voltage-gated channel subfamily E regulatory subunit 1	Long QT syndrome 5?0010433;Jervell and Lange-Nielsen syndrome?0003048;Jervell and Lange-Nielsen syndrome 2?0010364	https://raresource.nih.gov/literature/gene/KCNE1	3753	ENSG00000180509	6240	https://pubmed.ncbi.nlm.nih.gov/?term=KCNE1	None	None	6631	1211
KCNE2	potassium voltage-gated channel subfamily E regulatory subunit 2	Atrial fibrillation, familial, 4?0015516;Long QT syndrome 6?0010434;Familial atrial fibrillation?0009740	https://raresource.nih.gov/literature/gene/KCNE2	9992	ENSG00000159197	6242	https://pubmed.ncbi.nlm.nih.gov/?term=KCNE2	None	None	3278	346
KCNE3	potassium voltage-gated channel subfamily E regulatory subunit 3	Brugada syndrome 6?0015619	https://raresource.nih.gov/literature/gene/KCNE3	10008	ENSG00000175538	6243	https://pubmed.ncbi.nlm.nih.gov/?term=KCNE3	None	None	3353	181
KCNH1	potassium voltage-gated channel subfamily H member 1	Zimmermann-Laband syndrome?0000385;KCNH1 associated disorder?0027274;Zimmermann-Laband syndrome 1?0015071;Temple-Baraitser syndrome?0009441	https://raresource.nih.gov/literature/gene/KCNH1	3756	ENSG00000143473	6250	https://pubmed.ncbi.nlm.nih.gov/?term=KCNH1	None	None	171557	499
KCNH2	potassium voltage-gated channel subfamily H member 2	Short QT syndrome?0016650;Short QT syndrome type 1?0018633;Long QT syndrome 2?0003285	https://raresource.nih.gov/literature/gene/KCNH2	3757	ENSG00000055118	6251	https://pubmed.ncbi.nlm.nih.gov/?term=KCNH2	None	None	16349	4480
KCNH5	potassium voltage-gated channel subfamily H member 5	Developmental and epileptic encephalopathy 112?0026877	https://raresource.nih.gov/literature/gene/KCNH5	27133	ENSG00000140015	6254	https://pubmed.ncbi.nlm.nih.gov/?term=KCNH5	None	None	95864	1
KCNJ1	potassium inwardly rectifying channel subfamily J member 1	Bartter disease type 2?0022483	https://raresource.nih.gov/literature/gene/KCNJ1	3758	ENSG00000151704	6255	https://pubmed.ncbi.nlm.nih.gov/?term=KCNJ1	None	None	9417	708
KCNJ10	potassium inwardly rectifying channel subfamily J member 10	Pendred syndrome?0004271;Episodic kinesigenic dyskinesia?0008721;EAST syndrome?0010514;Autosomal recessive nonsyndromic hearing loss 4?0022584	https://raresource.nih.gov/literature/gene/KCNJ10	3766	ENSG00000177807	6256	https://pubmed.ncbi.nlm.nih.gov/?term=KCNJ10	None	None	26155	775
KCNJ11	potassium inwardly rectifying channel subfamily J member 11	DEND syndrome?0016701;Autosomal recessive hyperinsulinism due to Kir6.2 deficiency?0016727;Maturity-onset diabetes of the young type 13?0016090;Maturity onset diabetes mellitus in young?0003697;Diabetes mellitus, permanent neonatal 2?0016388;Intermediate DEND syndrome?0019724;Diabetes mellitus, transient neonatal, 3?0015490;Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency?0017286;Autosomal dominant hyperinsulinism due to Kir6.2 deficiency?0017284;Hyperinsulinemic hypoglycemia, familial, 2?0009927;Permanent neonatal diabetes mellitus?0010457	https://raresource.nih.gov/literature/gene/KCNJ11	3767	ENSG00000187486	6257	https://pubmed.ncbi.nlm.nih.gov/?term=KCNJ11	None	None	3131	2307
KCNJ13	potassium inwardly rectifying channel subfamily J member 13	Leber congenital amaurosis?0000634;Leber congenital amaurosis 16?0010885;Snowflake vitreoretinal degeneration?0009706	https://raresource.nih.gov/literature/gene/KCNJ13	3769	ENSG00000115474	6259	https://pubmed.ncbi.nlm.nih.gov/?term=KCNJ13	None	None	514	144
KCNJ2	potassium inwardly rectifying channel subfamily J member 2	Andersen Tawil syndrome?0009453;Short QT syndrome?0016650;Atrial fibrillation, familial, 9?0015737;Familial atrial fibrillation?0009740;Short QT syndrome type 3?0018635	https://raresource.nih.gov/literature/gene/KCNJ2	3759	ENSG00000123700	6263	https://pubmed.ncbi.nlm.nih.gov/?term=KCNJ2	None	None	4871	1285
KCNJ3	potassium inwardly rectifying channel subfamily J member 3	Familial atrial fibrillation?0009740	https://raresource.nih.gov/literature/gene/KCNJ3	3760	ENSG00000162989	6264	https://pubmed.ncbi.nlm.nih.gov/?term=KCNJ3	None	None	55012	580
KCNJ5	potassium inwardly rectifying channel subfamily J member 5	Familial hyperaldosteronism type III?0012362;Long QT syndrome 13?0015666;Familial atrial fibrillation?0009740	https://raresource.nih.gov/literature/gene/KCNJ5	3762	ENSG00000120457	6266	https://pubmed.ncbi.nlm.nih.gov/?term=KCNJ5	None	None	10244	781
KCNJ6	potassium inwardly rectifying channel subfamily J member 6	Keppen-Lubinsky syndrome?0017716	https://raresource.nih.gov/literature/gene/KCNJ6	3763	ENSG00000157542	6267	https://pubmed.ncbi.nlm.nih.gov/?term=KCNJ6	None	None	121036	539
KCNK3	potassium two pore domain channel subfamily K member 3	Pulmonary hypertension, primary, 4?0024974;Heritable pulmonary arterial hypertension?0011914	https://raresource.nih.gov/literature/gene/KCNK3	3777	ENSG00000171303	6278	https://pubmed.ncbi.nlm.nih.gov/?term=KCNK3	None	None	16842	1468
KCNK4	potassium two pore domain channel subfamily K member 4	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome?0018019	https://raresource.nih.gov/literature/gene/KCNK4	50801	ENSG00000182450	6279	https://pubmed.ncbi.nlm.nih.gov/?term=KCNK4	None	None	2525	206
KCNK9	potassium two pore domain channel subfamily K member 9	Birk-Barel syndrome?0010358	https://raresource.nih.gov/literature/gene/KCNK9	51305	ENSG00000169427	6283	https://pubmed.ncbi.nlm.nih.gov/?term=KCNK9	None	None	43290	356
KCNMA1	potassium calcium-activated channel subfamily M alpha 1	Liang-Wang syndrome?0027058;Generalized epilepsy-paroxysmal dyskinesia syndrome?0016704	https://raresource.nih.gov/literature/gene/KCNMA1	3778	ENSG00000156113	6284	https://pubmed.ncbi.nlm.nih.gov/?term=KCNMA1	None	None	268512	1223
KCNN2	potassium calcium-activated channel subfamily N member 2	Dystonia 34, myoclonic?0025599	https://raresource.nih.gov/literature/gene/KCNN2	3781	ENSG00000080709	6291	https://pubmed.ncbi.nlm.nih.gov/?term=KCNN2	None	None	164057	566
KCNN3	potassium calcium-activated channel subfamily N member 3	Zimmermann-Laband syndrome?0000385;Zimmermann-Laband syndrome 3?0016371	https://raresource.nih.gov/literature/gene/KCNN3	3782	ENSG00000143603	6292	https://pubmed.ncbi.nlm.nih.gov/?term=KCNN3	None	None	63966	523
KCNN4	potassium calcium-activated channel subfamily N member 4	Dehydrated hereditary stomatocytosis 2?0016152;Xerocytosis?0005623	https://raresource.nih.gov/literature/gene/KCNN4	3783	ENSG00000104783	6293	https://pubmed.ncbi.nlm.nih.gov/?term=KCNN4	None	None	5574	1594
KCNQ1	potassium voltage-gated channel subfamily Q member 1	Jervell and Lange-Nielsen syndrome 1?0025421;Jervell and Lange-Nielsen syndrome?0003048;Short QT syndrome type 2?0018634;Short QT syndrome?0016650;Atrial fibrillation, familial, 3?0015414;Familial atrial fibrillation?0009740;Beckwith-Wiedemann syndrome?0003343;Long QT syndrome 1?0026140	https://raresource.nih.gov/literature/gene/KCNQ1	3784	ENSG00000053918	6294	https://pubmed.ncbi.nlm.nih.gov/?term=KCNQ1	None	None	167109	2587
KCNQ1OT1	KCNQ1 opposite strand/antisense transcript 1	Beckwith-Wiedemann syndrome?0003343;Isolated hemihyperplasia?0002630	https://raresource.nih.gov/literature/gene/KCNQ1OT1	10984	ENSG00000269821	6295	https://pubmed.ncbi.nlm.nih.gov/?term=KCNQ1OT1	None	None	None	739
KCNQ2	potassium voltage-gated channel subfamily Q member 2	Autosomal dominant non-syndromic intellectual disability?0012107;Malignant migrating partial seizures of infancy?0012919;Seizures, benign familial neonatal, 1?0009765;Benign familial infantile epilepsy?0000857;Benign neonatal seizures?0001519;Developmental and epileptic encephalopathy, 7?0013060	https://raresource.nih.gov/literature/gene/KCNQ2	3785	ENSG00000075043	6296	https://pubmed.ncbi.nlm.nih.gov/?term=KCNQ2	None	None	29591	427
KCNQ3	potassium voltage-gated channel subfamily Q member 3	Benign familial infantile epilepsy?0000857;Seizures, benign familial neonatal, 2?0015054;Benign neonatal seizures?0001519	https://raresource.nih.gov/literature/gene/KCNQ3	3786	ENSG00000184156	6297	https://pubmed.ncbi.nlm.nih.gov/?term=KCNQ3	None	None	132330	54
KCNQ4	potassium voltage-gated channel subfamily Q member 4	Autosomal dominant nonsyndromic hearing loss?0016791;Autosomal dominant nonsyndromic hearing loss 2A?0018099	https://raresource.nih.gov/literature/gene/KCNQ4	9132	ENSG00000117013	6298	https://pubmed.ncbi.nlm.nih.gov/?term=KCNQ4	None	None	21851	357
KCNQ5	potassium voltage-gated channel subfamily Q member 5	Autosomal dominant non-syndromic intellectual disability?0012107;Intellectual disability, autosomal dominant 46?0025659	https://raresource.nih.gov/literature/gene/KCNQ5	56479	ENSG00000185760	6299	https://pubmed.ncbi.nlm.nih.gov/?term=KCNQ5	None	None	203248	272
KCNT1	potassium sodium-activated channel subfamily T member 1	Autosomal dominant nocturnal frontal lobe epilepsy?0011918;Autosomal dominant nocturnal frontal lobe epilepsy 5?0015891;Developmental and epileptic encephalopathy, 14?0015886;Malignant migrating partial seizures of infancy?0012919	https://raresource.nih.gov/literature/gene/KCNT1	57582	ENSG00000107147	18865	https://pubmed.ncbi.nlm.nih.gov/?term=KCNT1	None	None	45538	313
KCNT2	potassium sodium-activated channel subfamily T member 2	Developmental and epileptic encephalopathy, 57?0025796	https://raresource.nih.gov/literature/gene/KCNT2	343450	ENSG00000162687	18866	https://pubmed.ncbi.nlm.nih.gov/?term=KCNT2	None	None	54883	88
KCNV2	potassium voltage-gated channel modifier subfamily V member 2	Cone dystrophy with supernormal rod response?0010649;KCNV2-related retinopathy?0027577	https://raresource.nih.gov/literature/gene/KCNV2	169522	ENSG00000168263	19698	https://pubmed.ncbi.nlm.nih.gov/?term=KCNV2	None	None	8201	218
KCTD1	potassium channel tetramerization domain containing 1	Scalp-ear-nipple syndrome?0000159	https://raresource.nih.gov/literature/gene/KCTD1	284252	ENSG00000134504	18249	https://pubmed.ncbi.nlm.nih.gov/?term=KCTD1	None	None	45786	46
KCTD17	potassium channel tetramerization domain containing 17	Myoclonic dystonia 26?0016103;Myoclonus-dystonia syndrome?0007139	https://raresource.nih.gov/literature/gene/KCTD17	79734	ENSG00000100379	25705	https://pubmed.ncbi.nlm.nih.gov/?term=KCTD17	None	None	3709	32
KCTD7	potassium channel tetramerization domain containing 7	Progressive myoclonic epilepsy type 3?0002167	https://raresource.nih.gov/literature/gene/KCTD7	154881	ENSG00000243335	21957	https://pubmed.ncbi.nlm.nih.gov/?term=KCTD7	None	None	7766	69
KDELR2	KDEL endoplasmic reticulum protein retention receptor 2	Osteogenesis imperfecta, type 21?0025646	https://raresource.nih.gov/literature/gene/KDELR2	11014	ENSG00000136240	6305	https://pubmed.ncbi.nlm.nih.gov/?term=KDELR2	None	None	490	202
KDF1	keratinocyte differentiation factor 1	Autosomal dominant hypohidrotic ectodermal dysplasia?0002048;Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type?0018593	https://raresource.nih.gov/literature/gene/KDF1	126695	ENSG00000175707	26624	https://pubmed.ncbi.nlm.nih.gov/?term=KDF1	None	None	5502	29
KDM1A	lysine demethylase 1A	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome?0017862;ACTH-independent macronodular adrenal hyperplasia 3?0027386	https://raresource.nih.gov/literature/gene/KDM1A	23028	ENSG00000004487	29079	https://pubmed.ncbi.nlm.nih.gov/?term=KDM1A	None	None	23772	2225
KDM3B	lysine demethylase 3B	KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome?0026642	https://raresource.nih.gov/literature/gene/KDM3B	51780	ENSG00000120733	1337	https://pubmed.ncbi.nlm.nih.gov/?term=KDM3B	None	None	30414	98
KDM4B	lysine demethylase 4B	Intellectual developmental disorder, autosomal dominant 65?0018547	https://raresource.nih.gov/literature/gene/KDM4B	23030	ENSG00000127663	29136	https://pubmed.ncbi.nlm.nih.gov/?term=KDM4B	None	None	76444	255
KDM5B	lysine demethylase 5B	Intellectual disability, autosomal recessive 65?0022578;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/KDM5B	10765	ENSG00000117139	18039	https://pubmed.ncbi.nlm.nih.gov/?term=KDM5B	None	None	35016	548
KDM5C	lysine demethylase 5C	Syndromic X-linked intellectual disability Claes-Jensen type?0016744	https://raresource.nih.gov/literature/gene/KDM5C	8242	ENSG00000126012	11114	https://pubmed.ncbi.nlm.nih.gov/?term=KDM5C	None	None	9785	400
KDM6A	lysine demethylase 6A	Kabuki syndrome 1?0024579;Kabuki syndrome 2?0015270;Kabuki syndrome?0006810	https://raresource.nih.gov/literature/gene/KDM6A	7403	ENSG00000147050	12637	https://pubmed.ncbi.nlm.nih.gov/?term=KDM6A	None	None	60301	1039
KDR	kinase insert domain receptor	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/KDR	3791	ENSG00000128052	6307	https://pubmed.ncbi.nlm.nih.gov/?term=KDR	None	None	20115	16003
KDSR	3-ketodihydrosphingosine reductase	Erythrokeratodermia variabilis?0016528;Erythrokeratodermia variabilis et progressiva 4?0018590	https://raresource.nih.gov/literature/gene/KDSR	2531	ENSG00000119537	4021	https://pubmed.ncbi.nlm.nih.gov/?term=KDSR	None	None	14373	39
KERA	keratocan	Cornea plana?0016657;Cornea plana 2?0018050	https://raresource.nih.gov/literature/gene/KERA	11081	ENSG00000139330	6309	https://pubmed.ncbi.nlm.nih.gov/?term=KERA	None	None	3189	312
KHDC3L	KH domain containing 3 like, subcortical maternal complex member	Hydatidiform mole, recurrent, 2?0018366;Complete hydatidiform mole?0017224;Partial hydatidiform mole?0020749	https://raresource.nih.gov/literature/gene/KHDC3L	154288	ENSG00000203908	33699	https://pubmed.ncbi.nlm.nih.gov/?term=KHDC3L	None	None	2551	75
KHK	ketohexokinase	Essential fructosuria?0006471	https://raresource.nih.gov/literature/gene/KHK	3795	ENSG00000138030	6315	https://pubmed.ncbi.nlm.nih.gov/?term=KHK	None	None	5743	621
KIAA0586	KIAA0586	Short-rib thoracic dysplasia 14 with polydactyly?0018467;Joubert syndrome?0006802;Joubert syndrome 23?0016124;Joubert syndrome with Jeune asphyxiating thoracic dystrophy?0017637	https://raresource.nih.gov/literature/gene/KIAA0586	9786	ENSG00000100578	19960	https://pubmed.ncbi.nlm.nih.gov/?term=KIAA0586	None	None	31005	65
KIAA0753	KIAA0753	Joubert syndrome?0006802;Orofaciodigital syndrome XV?0016197;Jeune thoracic dystrophy?0003049;Short-rib thoracic dysplasia 21 without polydactyly?0025550;Joubert syndrome 38?0025547	https://raresource.nih.gov/literature/gene/KIAA0753	9851	ENSG00000198920	29110	https://pubmed.ncbi.nlm.nih.gov/?term=KIAA0753	None	None	12762	36
KIAA0825	KIAA0825	Polydactyly, postaxial, type a10?0018178;Postaxial polydactyly type A?0016817	https://raresource.nih.gov/literature/gene/KIAA0825	285600	ENSG00000185261	28532	https://pubmed.ncbi.nlm.nih.gov/?term=KIAA0825	None	None	153406	10
KIAA1549	KIAA1549	Retinitis pigmentosa 86?0016368	https://raresource.nih.gov/literature/gene/KIAA1549	57670	ENSG00000122778	22219	https://pubmed.ncbi.nlm.nih.gov/?term=KIAA1549	None	None	52914	221
KICS2	KICSTOR subunit 2	Intellectual developmental disorder, autosomal recessive 83?0027435	https://raresource.nih.gov/literature/gene/KICS2	144577	ENSG00000174206	26517	https://pubmed.ncbi.nlm.nih.gov/?term=KICS2	None	None	None	4
KIDINS220	kinase D interacting substrate 220	Spastic paraplegia, intellectual disability, nystagmus, and obesity?0017957	https://raresource.nih.gov/literature/gene/KIDINS220	57498	ENSG00000134313	29508	https://pubmed.ncbi.nlm.nih.gov/?term=KIDINS220	None	None	42240	136
KIF11	kinesin family member 11	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability?0003622	https://raresource.nih.gov/literature/gene/KIF11	3832	ENSG00000138160	6388	https://pubmed.ncbi.nlm.nih.gov/?term=KIF11	None	None	25144	968
KIF12	kinesin family member 12	Cholestasis, progressive familial intrahepatic, 8?0025584	https://raresource.nih.gov/literature/gene/KIF12	113220	ENSG00000136883	21495	https://pubmed.ncbi.nlm.nih.gov/?term=KIF12	None	None	4543	35
KIF14	kinesin family member 14	Microcephaly 20, primary, autosomal recessive?0016268;Autosomal recessive primary microcephaly?0012117;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome?0017743	https://raresource.nih.gov/literature/gene/KIF14	9928	ENSG00000118193	19181	https://pubmed.ncbi.nlm.nih.gov/?term=KIF14	None	None	28126	54
KIF15	kinesin family member 15	21q22.11q22.12 microdeletion syndrome?0020779	https://raresource.nih.gov/literature/gene/KIF15	56992	ENSG00000163808	17273	https://pubmed.ncbi.nlm.nih.gov/?term=KIF15	None	None	33197	192
KIF1A	kinesin family member 1A	Intellectual disability, autosomal dominant 9?0016459;Autosomal dominant non-syndromic intellectual disability?0012107;Hereditary spastic paraplegia 30?0016942;Neuropathy, hereditary sensory, type 2C?0015774;Hereditary sensory and autonomic neuropathy type 2?0003976;Spastic paraplegia 30b, autosomal recessive?0027203	https://raresource.nih.gov/literature/gene/KIF1A	547	ENSG00000130294	888	https://pubmed.ncbi.nlm.nih.gov/?term=KIF1A	None	None	48552	438
KIF1B	kinesin family member 1B	Charcot-Marie-Tooth disease type 2A1?0001248;Pheochromocytoma?0015105	https://raresource.nih.gov/literature/gene/KIF1B	23095	ENSG00000054523	16636	https://pubmed.ncbi.nlm.nih.gov/?term=KIF1B	None	None	80776	303
KIF1C	kinesin family member 1C	Spastic ataxia 2?0017644	https://raresource.nih.gov/literature/gene/KIF1C	10749	ENSG00000129250	6317	https://pubmed.ncbi.nlm.nih.gov/?term=KIF1C	None	None	10439	93
KIF20A	kinesin family member 20A	Cardiomyopathy, familial restrictive, 6?0025540	https://raresource.nih.gov/literature/gene/KIF20A	10112	ENSG00000112984	9787	https://pubmed.ncbi.nlm.nih.gov/?term=KIF20A	None	None	3329	401
KIF21A	kinesin family member 21A	Congenital fibrosis of extraocular muscles type 1?0025287;Congenital fibrosis of extraocular muscles?0012590	https://raresource.nih.gov/literature/gene/KIF21A	55605	ENSG00000139116	19349	https://pubmed.ncbi.nlm.nih.gov/?term=KIF21A	None	None	35953	116
KIF22	kinesin family member 22	Spondyloepimetaphyseal dysplasia with multiple dislocations?0009866	https://raresource.nih.gov/literature/gene/KIF22	3835	ENSG00000079616	6391	https://pubmed.ncbi.nlm.nih.gov/?term=KIF22	None	None	4977	540
KIF23	kinesin family member 23	Congenital dyserythropoietic anemia, type III?0002002	https://raresource.nih.gov/literature/gene/KIF23	9493	ENSG00000137807	6392	https://pubmed.ncbi.nlm.nih.gov/?term=KIF23	None	None	11609	411
KIF4A	kinesin family member 4A	Intellectual disability, X-linked 100?0024729	https://raresource.nih.gov/literature/gene/KIF4A	24137	ENSG00000090889	13339	https://pubmed.ncbi.nlm.nih.gov/?term=KIF4A	None	None	22783	319
KIF5A	kinesin family member 5A	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation?0021447;Hereditary spastic paraplegia 10?0009590	https://raresource.nih.gov/literature/gene/KIF5A	3798	ENSG00000155980	6323	https://pubmed.ncbi.nlm.nih.gov/?term=KIF5A	None	None	10501	290
KIF7	kinesin family member 7	Acrocallosal syndrome?0005721;Hydrolethalus syndrome 2?0015759;Multiple epiphyseal dysplasia, Al-Gazali type?0017014;KIF7-related ciliopathy?0026564;Hydrolethalus syndrome?0006683	https://raresource.nih.gov/literature/gene/KIF7	374654	ENSG00000166813	30497	https://pubmed.ncbi.nlm.nih.gov/?term=KIF7	None	None	10681	125
KIFBP	kinesin family binding protein	Goldberg-Shprintzen syndrome?0009849	https://raresource.nih.gov/literature/gene/KIFBP	26128	ENSG00000198954	23419	https://pubmed.ncbi.nlm.nih.gov/?term=KIFBP	None	None	12053	99
KIRREL1	kirre like nephrin family adhesion molecule 1	Nephrotic syndrome, type 23?0016435	https://raresource.nih.gov/literature/gene/KIRREL1	55243	ENSG00000183853	15734	https://pubmed.ncbi.nlm.nih.gov/?term=KIRREL1	None	None	39906	136
KIRREL3	kirre like nephrin family adhesion molecule 3	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/KIRREL3	84623	ENSG00000149571	23204	https://pubmed.ncbi.nlm.nih.gov/?term=KIRREL3	None	None	138391	113
KISS1	KiSS-1 metastasis suppressor	Genetic central precocious puberty in male?0027086;Hypogonadotropic hypogonadism 13 with or without anosmia?0018601;Hypogonadotropic hypogonadism?0016533	https://raresource.nih.gov/literature/gene/KISS1	3814	ENSG00000170498	6341	https://pubmed.ncbi.nlm.nih.gov/?term=KISS1	None	None	3999	1763
KISS1R	KISS1 receptor	Hypogonadotropic hypogonadism?0016533;Genetic central precocious puberty in female?0027028;Hypogonadotropic hypogonadism 8 with or without anosmia?0015849;Central precocious puberty 1?0024615;Genetic central precocious puberty in male?0027086	https://raresource.nih.gov/literature/gene/KISS1R	84634	ENSG00000116014	4510	https://pubmed.ncbi.nlm.nih.gov/?term=KISS1R	None	None	3379	1158
KIT	KIT proto-oncogene, receptor tyrosine kinase	Germ cell tumor of testis?0013047;Telangiectasia macularis eruptiva perstans?0019136;Piebaldism?0004344;Pseudoxanthomatous diffuse cutaneous mastocytosis?0021089;Acute myeloid leukemia?0012757;Gastrointestinal stromal tumor?0008598;Smouldering systemic mastocytosis?0020036;Typical urticaria pigmentosa?0020033;Cutaneous mastocytoma?0012687;Cutaneous mastocytosis?0007842;Acute myeloblastic leukemia with maturation?0000527;Testicular seminoma?0004792;Plaque-form urticaria pigmentosa?0020034;Nodular urticaria pigmentosa?0020035;Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease?0019596;Chronic mast cell leukemia?0022277;Isolated bone marrow mastocytosis?0020037;Acute mast cell leukemia?0022276;Bullous diffuse cutaneous mastocytosis?0021088	https://raresource.nih.gov/literature/gene/KIT	3815	ENSG00000157404	6342	https://pubmed.ncbi.nlm.nih.gov/?term=KIT	None	None	38010	22665
KITLG	KIT ligand	Waardenburg syndrome, IIa 2F?0025672;Waardenburg syndrome type 2?0005520;Familial progressive hyperpigmentation?0016706;Autosomal dominant nonsyndromic hearing loss?0016791;Autosomal dominant nonsyndromic hearing loss 69?0018143;Hyperpigmentation with or without hypopigmentation, familial progressive?0018073;Familial progressive hyper- and hypopigmentation?0017298	https://raresource.nih.gov/literature/gene/KITLG	4254	ENSG00000049130	6343	https://pubmed.ncbi.nlm.nih.gov/?term=KITLG	None	None	19568	13158
KIZ	kizuna centrosomal protein	KIZ-related retinopathy?0026381;Retinitis pigmentosa 69?0016011	https://raresource.nih.gov/literature/gene/KIZ	55857	ENSG00000088970	15865	https://pubmed.ncbi.nlm.nih.gov/?term=KIZ	None	None	28954	35
KL	klotho	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome?0010879;Tumoral calcinosis, hyperphosphatemic, familial, 3?0016282	https://raresource.nih.gov/literature/gene/KL	9365	ENSG00000133116	6344	https://pubmed.ncbi.nlm.nih.gov/?term=KL	None	None	12714	5579
KLC2	kinesin light chain 2	Spastic paraplegia, optic atropy, and neuropathy?0017479	https://raresource.nih.gov/literature/gene/KLC2	64837	ENSG00000174996	20716	https://pubmed.ncbi.nlm.nih.gov/?term=KLC2	None	None	4671	45
KLC4	kinesin light chain 4	Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy?0027380	https://raresource.nih.gov/literature/gene/KLC4	89953	ENSG00000137171	21624	https://pubmed.ncbi.nlm.nih.gov/?term=KLC4	None	None	6279	10
KLF1	KLF transcription factor 1	Congenital dyserythropoietic anemia type 4?0017344;Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome?0018642;Anemia, congenital dyserythropoietic, type IVb?0027326;Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome?0018648	https://raresource.nih.gov/literature/gene/KLF1	10661	ENSG00000105610	6345	https://pubmed.ncbi.nlm.nih.gov/?term=KLF1	None	None	1740	650
KLF11	KLF transcription factor 11	Maturity onset diabetes mellitus in young?0003697;Maturity-onset diabetes of the young type 7?0010661	https://raresource.nih.gov/literature/gene/KLF11	8462	ENSG00000172059	11811	https://pubmed.ncbi.nlm.nih.gov/?term=KLF11	None	None	8023	220
KLF13	KLF transcription factor 13	Chromosome 15q13.3 microdeletion syndrome?0010296	https://raresource.nih.gov/literature/gene/KLF13	51621	ENSG00000169926	13672	https://pubmed.ncbi.nlm.nih.gov/?term=KLF13	None	None	31833	168
KLF6	KLF transcription factor 6	Familial prostate cancer?0027144;Gastric cancer?0007704	https://raresource.nih.gov/literature/gene/KLF6	1316	ENSG00000067082	2235	https://pubmed.ncbi.nlm.nih.gov/?term=KLF6	None	None	4728	1409
KLHDC8B	kelch domain containing 8B	Classic Hodgkin lymphoma?0016529	https://raresource.nih.gov/literature/gene/KLHDC8B	200942	ENSG00000185909	28557	https://pubmed.ncbi.nlm.nih.gov/?term=KLHDC8B	None	None	2791	241
KLHL10	kelch like family member 10	Spermatogenic failure 11?0015904	https://raresource.nih.gov/literature/gene/KLHL10	317719	ENSG00000161594	18829	https://pubmed.ncbi.nlm.nih.gov/?term=KLHL10	None	None	3531	25
KLHL15	kelch like family member 15	Intellectual disability, X-linked 103?0024734	https://raresource.nih.gov/literature/gene/KLHL15	80311	ENSG00000174010	29347	https://pubmed.ncbi.nlm.nih.gov/?term=KLHL15	None	None	11232	17
KLHL24	kelch like family member 24	Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies?0026721;Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss?0017951	https://raresource.nih.gov/literature/gene/KLHL24	54800	ENSG00000114796	25947	https://pubmed.ncbi.nlm.nih.gov/?term=KLHL24	None	None	19490	65
KLHL3	kelch like family member 3	Pseudohypoaldosteronism type 2D?0017372	https://raresource.nih.gov/literature/gene/KLHL3	26249	ENSG00000146021	6354	https://pubmed.ncbi.nlm.nih.gov/?term=KLHL3	None	None	41783	142
KLHL40	kelch like family member 40	Nemaline myopathy 8?0015946;Severe congenital nemaline myopathy?0012821	https://raresource.nih.gov/literature/gene/KLHL40	131377	ENSG00000157119	30372	https://pubmed.ncbi.nlm.nih.gov/?term=KLHL40	None	None	4097	44
KLHL41	kelch like family member 41	Severe congenital nemaline myopathy?0012821;Childhood-onset nemaline myopathy?0007171;Typical nemaline myopathy?0012822;Nemaline myopathy 9?0016007;Intermediate nemaline myopathy?0012823	https://raresource.nih.gov/literature/gene/KLHL41	10324	ENSG00000239474	16905	https://pubmed.ncbi.nlm.nih.gov/?term=KLHL41	None	None	6571	78
KLHL7	kelch like family member 7	Cold-induced sweating syndrome?0016983;Retinitis pigmentosa 42?0015593;PERCHING syndrome?0018278;KLHL7-related cold-induced sweating-like syndrome?0022437;KLHL7-related Bohring-Opitz-like syndrome?0022436	https://raresource.nih.gov/literature/gene/KLHL7	55975	ENSG00000122550	15646	https://pubmed.ncbi.nlm.nih.gov/?term=KLHL7	None	None	26473	89
KLHL9	kelch like family member 9	KLHL9-related early-onset distal myopathy?0021655	https://raresource.nih.gov/literature/gene/KLHL9	55958	ENSG00000198642	18732	https://pubmed.ncbi.nlm.nih.gov/?term=KLHL9	None	None	3871	17
KLK11	kallikrein related peptidase 11	Ichthyosis with erythrokeratoderma?0026872	https://raresource.nih.gov/literature/gene/KLK11	11012	ENSG00000167757	6359	https://pubmed.ncbi.nlm.nih.gov/?term=KLK11	None	None	2327	454
KLK4	kallikrein related peptidase 4	Amelogenesis imperfecta type 2A1?0009495;Amelogenesis imperfecta type 2?0008349	https://raresource.nih.gov/literature/gene/KLK4	9622	ENSG00000167749	6365	https://pubmed.ncbi.nlm.nih.gov/?term=KLK4	None	None	2903	6729
KLKB1	kallikrein B1	Inherited prekallikrein deficiency?0004477	https://raresource.nih.gov/literature/gene/KLKB1	3818	ENSG00000164344	6371	https://pubmed.ncbi.nlm.nih.gov/?term=KLKB1	None	None	13476	2317
KLLN	killin, p53 regulated DNA replication inhibitor	Cowden syndrome 4?0016463;Cowden syndrome?0006202	https://raresource.nih.gov/literature/gene/KLLN	100144748	ENSG00000227268	37212	https://pubmed.ncbi.nlm.nih.gov/?term=KLLN	None	None	2721	57
KMT2A	lysine methyltransferase 2A	Tetralogy of Fallot?0002245;Wiedemann-Steiner syndrome?0005565	https://raresource.nih.gov/literature/gene/KMT2A	4297	ENSG00000118058	7132	https://pubmed.ncbi.nlm.nih.gov/?term=KMT2A	None	None	23299	5404
KMT2B	lysine methyltransferase 2B	Dystonia 28, childhood-onset?0022359	https://raresource.nih.gov/literature/gene/KMT2B	9757	ENSG00000272333	15840	https://pubmed.ncbi.nlm.nih.gov/?term=KMT2B	None	None	8335	1065
KMT2C	lysine methyltransferase 2C	Kleefstra syndrome 2?0018382;Kleefstra syndrome due to a point mutation?0017253	https://raresource.nih.gov/literature/gene/KMT2C	58508	ENSG00000055609	13726	https://pubmed.ncbi.nlm.nih.gov/?term=KMT2C	None	None	129218	811
KMT2D	lysine methyltransferase 2D	Kabuki syndrome 1?0024579;Kabuki syndrome?0006810;Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome?0022366;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/KMT2D	8085	ENSG00000167548	7133	https://pubmed.ncbi.nlm.nih.gov/?term=KMT2D	None	None	16488	1962
KMT5B	lysine methyltransferase 5B	Intellectual disability, autosomal dominant 51?0025662	https://raresource.nih.gov/literature/gene/KMT5B	51111	ENSG00000110066	24283	https://pubmed.ncbi.nlm.nih.gov/?term=KMT5B	None	None	11304	86
KNG1	kininogen 1	Hereditary angioedema with normal C1inh not related to F12 or PLG variant?0022406;High molecular weight kininogen deficiency?0002684;Angioedema, hereditary, 6?0025373	https://raresource.nih.gov/literature/gene/KNG1	3827	ENSG00000113889	6383	https://pubmed.ncbi.nlm.nih.gov/?term=KNG1	None	None	13863	12327
KNL1	kinetochore scaffold 1	Microcephaly 4, primary, autosomal recessive?0015367;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/KNL1	57082	ENSG00000137812	24054	https://pubmed.ncbi.nlm.nih.gov/?term=KNL1	None	None	22918	236
KNSTRN	kinetochore localized astrin (SPAG5) binding protein	Combined immunodeficiency with faciooculoskeletal anomalies?0017139	https://raresource.nih.gov/literature/gene/KNSTRN	90417	ENSG00000128944	30767	https://pubmed.ncbi.nlm.nih.gov/?term=KNSTRN	None	None	5339	65
KPNA3	karyopherin subunit alpha 3	Spastic paraplegia 88, autosomal dominant?0026689;Hereditary spastic paraplegia 37?0017064	https://raresource.nih.gov/literature/gene/KPNA3	3839	ENSG00000102753	6396	https://pubmed.ncbi.nlm.nih.gov/?term=KPNA3	None	None	33831	133
KPNA7	karyopherin subunit alpha 7	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome?0021707	https://raresource.nih.gov/literature/gene/KPNA7	402569	ENSG00000185467	21839	https://pubmed.ncbi.nlm.nih.gov/?term=KPNA7	None	None	15261	36
KPTN	kaptin, actin binding protein	Macrocephaly-developmental delay syndrome?0017630	https://raresource.nih.gov/literature/gene/KPTN	11133	ENSG00000118162	6404	https://pubmed.ncbi.nlm.nih.gov/?term=KPTN	None	None	3634	30
KRAS	KRAS proto-oncogene, GTPase	Noonan syndrome 3?0009885;Familial cancer of breast?0017142;Familial pancreatic carcinoma?0004206;Gastric cancer?0007704;Acute myeloid leukemia?0012757;Tetralogy of Fallot?0002245;Pilomyxoid astrocytoma?0020710;Autoimmune lymphoproliferative syndrome type 4?0017262;Cerebral arteriovenous malformation?0003020;Differentiated thyroid carcinoma?0012027;Toriello-Lacassie-Droste syndrome?0010366;Cardiofaciocutaneous syndrome 2?0015935;Cardio-facio-cutaneous syndrome?0009146;Noonan syndrome?0010955;Linear nevus sebaceous syndrome?0010291	https://raresource.nih.gov/literature/gene/KRAS	3845	ENSG00000133703	6407	https://pubmed.ncbi.nlm.nih.gov/?term=KRAS	None	None	16677	31893
KREMEN1	kringle containing transmembrane protein 1	Ectodermal dysplasia 13, hair/tooth type?0025888	https://raresource.nih.gov/literature/gene/KREMEN1	83999	ENSG00000183762	17550	https://pubmed.ncbi.nlm.nih.gov/?term=KREMEN1	None	None	24422	124
KRIT1	KRIT1 ankyrin repeat containing	Hereditary cavernous hemangioma of brain?0013641;Cerebral cavernous malformation 1?0025224	https://raresource.nih.gov/literature/gene/KRIT1	889	ENSG00000001631	1573	https://pubmed.ncbi.nlm.nih.gov/?term=KRIT1	None	None	17636	5493
KRT1	keratin 1	Epidermolytic hyperkeratosis 1?0026397;Ichthyosis, annular epidermolytic, 2?0026747;Keratosis palmoplantaris striata 3?0009173;Ichthyosis hystrix of Curth-Macklin?0002954;Striate palmoplantar keratoderma?0015016;Palmoplantar keratoderma, epidermolytic, 2?0026814;Diffuse nonepidermolytic palmoplantar keratoderma?0005186;Annular epidermolytic ichthyosis?0017304	https://raresource.nih.gov/literature/gene/KRT1	3848	ENSG00000167768	6412	https://pubmed.ncbi.nlm.nih.gov/?term=KRT1	None	None	2914	2800
KRT10	keratin 10	Ichthyosis hystrix gravior?0009497;Ichthyosis, annular epidermolytic 1?0015417;Epidermolytic hyperkeratosis 2A, autosomal dominant?0026396;Epidermolytic hyperkeratosis 2B, autosomal recessive?0026394;Epidermolytic hyperkeratosis 2?0026961;Autosomal recessive epidermolytic ichthyosis?0022074;Annular epidermolytic ichthyosis?0017304;Congenital reticular ichthyosiform erythroderma?0017305	https://raresource.nih.gov/literature/gene/KRT10	3858	ENSG00000186395	6413	https://pubmed.ncbi.nlm.nih.gov/?term=KRT10	None	None	2980	1558
KRT12	keratin 12	Meesmann corneal dystrophy?0009688;Corneal dystrophy, Meesmann, 1?0025252	https://raresource.nih.gov/literature/gene/KRT12	3859	ENSG00000187242	6414	https://pubmed.ncbi.nlm.nih.gov/?term=KRT12	None	None	2564	365
KRT13	keratin 13	White sponge nevus?0008501;White sponge nevus 2?0016012	https://raresource.nih.gov/literature/gene/KRT13	3860	ENSG00000171401	6415	https://pubmed.ncbi.nlm.nih.gov/?term=KRT13	None	None	2784	920
KRT14	keratin 14	Epidermolysis bullosa simplex 1C, localized?0002146;Dermatopathia pigmentosa reticularis?0008550;Epidermolysis bullosa simplex 1A, generalized severe?0002141;Naegeli-Franceschetti-Jadassohn syndrome?0003912;Epidermolysis bullosa simplex, Koebner type?0002147;Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive?0016778	https://raresource.nih.gov/literature/gene/KRT14	3861	ENSG00000186847	6416	https://pubmed.ncbi.nlm.nih.gov/?term=KRT14	None	None	2923	3027
KRT16	keratin 16	Pachyonychia congenita syndrome?0010753;Pachyonychia congenita 1?0015102;Palmoplantar keratoderma, nonepidermolytic, focal 1?0018487	https://raresource.nih.gov/literature/gene/KRT16	3868	ENSG00000186832	6423	https://pubmed.ncbi.nlm.nih.gov/?term=KRT16	None	None	2317	213
KRT17	keratin 17	Pachyonychia congenita syndrome?0010753;Steatocystoma multiplex?0005003;Pachyonychia congenita 2?0015103	https://raresource.nih.gov/literature/gene/KRT17	3872	ENSG00000128422	6427	https://pubmed.ncbi.nlm.nih.gov/?term=KRT17	None	None	2847	3
KRT18	keratin 18	Cirrhosis, familial?0024551	https://raresource.nih.gov/literature/gene/KRT18	3875	ENSG00000111057	6430	https://pubmed.ncbi.nlm.nih.gov/?term=KRT18	None	None	2035	27
KRT2	keratin 2	Ichthyosis bullosa of Siemens?0002966	https://raresource.nih.gov/literature/gene/KRT2	3849	ENSG00000172867	6439	https://pubmed.ncbi.nlm.nih.gov/?term=KRT2	None	None	3473	123
KRT25	keratin 25	Wooly hair, autosomal recessive 3?0016157;Wooly hair?0005597	https://raresource.nih.gov/literature/gene/KRT25	147183	ENSG00000204897	30839	https://pubmed.ncbi.nlm.nih.gov/?term=KRT25	None	None	3312	44
KRT3	keratin 3	Corneal dystrophy, Meesmann, 2?0025769;Meesmann corneal dystrophy?0009688	https://raresource.nih.gov/literature/gene/KRT3	3850	ENSG00000186442	6440	https://pubmed.ncbi.nlm.nih.gov/?term=KRT3	None	None	3039	589
KRT4	keratin 4	White sponge nevus 1?0024637;White sponge nevus?0008501	https://raresource.nih.gov/literature/gene/KRT4	3851	ENSG00000170477	6441	https://pubmed.ncbi.nlm.nih.gov/?term=KRT4	None	None	3895	466
KRT5	keratin 5	Epidermolysis bullosa simplex 2B, generalized intermediate?0025593;Epidermolysis bullosa simplex with mottled pigmentation?0009737;Dowling-Degos disease 1?0025416;Epidermolysis bullosa simplex 2C, localized?0025594;Dowling-Degos disease?0009775;Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive?0025598;Epidermolysis bullosa simplex 1A, generalized severe?0002141;Epidermolysis bullosa simplex with migratory circinate erythema?0016990;Epidermolysis bullosa simplex 2A, generalized severe?0025580	https://raresource.nih.gov/literature/gene/KRT5	3852	ENSG00000186081	6442	https://pubmed.ncbi.nlm.nih.gov/?term=KRT5	None	None	3349	2083
KRT6A	keratin 6A	Pachyonychia congenita syndrome?0010753;Pachyonychia congenita 3?0016005	https://raresource.nih.gov/literature/gene/KRT6A	3853	ENSG00000205420	6443	https://pubmed.ncbi.nlm.nih.gov/?term=KRT6A	None	None	3363	548
KRT6B	keratin 6B	Pachyonychia congenita syndrome?0010753;Pachyonychia congenita 4?0016006	https://raresource.nih.gov/literature/gene/KRT6B	3854	ENSG00000185479	6444	https://pubmed.ncbi.nlm.nih.gov/?term=KRT6B	None	None	3211	1388
KRT6C	keratin 6C	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse?0017669	https://raresource.nih.gov/literature/gene/KRT6C	286887	ENSG00000170465	20406	https://pubmed.ncbi.nlm.nih.gov/?term=KRT6C	None	None	3223	67
KRT71	keratin 71	Hypotrichosis 13?0016029;Wooly hair?0005597	https://raresource.nih.gov/literature/gene/KRT71	112802	ENSG00000139648	28927	https://pubmed.ncbi.nlm.nih.gov/?term=KRT71	None	None	3670	57
KRT74	keratin 74	Hypotrichosis simplex of the scalp?0016789;Ectodermal dysplasia 7, hair/nail type?0018065;Hypotrichosis 3?0018094;Pure hair and nail ectodermal dysplasia?0016680;Wooly hair?0005597;Autosomal dominant wooly hair?0025222	https://raresource.nih.gov/literature/gene/KRT74	121391	ENSG00000170484	28929	https://pubmed.ncbi.nlm.nih.gov/?term=KRT74	None	None	3493	20
KRT81	keratin 81	Monilethrix-2?0027536;Monilethrix?0000093	https://raresource.nih.gov/literature/gene/KRT81	3887	ENSG00000205426	6458	https://pubmed.ncbi.nlm.nih.gov/?term=KRT81	None	None	1709	208
KRT83	keratin 83	Erythrokeratodermia variabilis et progressiva 5?0018669;Monilethrix?0000093;Monilethrix-3?0027537	https://raresource.nih.gov/literature/gene/KRT83	3889	ENSG00000170523	6460	https://pubmed.ncbi.nlm.nih.gov/?term=KRT83	None	None	4053	19
KRT85	keratin 85	Ectodermal dysplasia 4, hair/nail type?0018062;Pure hair and nail ectodermal dysplasia?0016680	https://raresource.nih.gov/literature/gene/KRT85	3891	ENSG00000135443	6462	https://pubmed.ncbi.nlm.nih.gov/?term=KRT85	None	None	3232	88
KRT86	keratin 86	Monilethrix-1?0027538;Monilethrix?0000093	https://raresource.nih.gov/literature/gene/KRT86	3892	ENSG00000170442	6463	https://pubmed.ncbi.nlm.nih.gov/?term=KRT86	None	None	None	149
KRT9	keratin 9	Epidermolytic palmoplantar keratoderma, 1?0002826	https://raresource.nih.gov/literature/gene/KRT9	3857	ENSG00000171403	6447	https://pubmed.ncbi.nlm.nih.gov/?term=KRT9	None	None	3079	222
KY	kyphoscoliosis peptidase	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome?0022012;Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome?0017912;Myofibrillar myopathy 7?0025034	https://raresource.nih.gov/literature/gene/KY	339855	ENSG00000174611	26576	https://pubmed.ncbi.nlm.nih.gov/?term=KY	None	None	19062	58
KYNU	kynureninase	Vertebral, cardiac, renal, and limb defects syndrome 2?0018509;Congenital vertebral-cardiac-renal anomalies syndrome?0017961;Hydroxykynureninuria?0010039	https://raresource.nih.gov/literature/gene/KYNU	8942	ENSG00000115919	6469	https://pubmed.ncbi.nlm.nih.gov/?term=KYNU	None	None	68497	405
L1CAM	L1 cell adhesion molecule	X-linked complicated corpus callosum dysgenesis?0012526;MASA syndrome?0006986;X-linked complicated spastic paraplegia type 1?0012525;X-linked hydrocephalus syndrome?0000434	https://raresource.nih.gov/literature/gene/L1CAM	3897	ENSG00000198910	6470	https://pubmed.ncbi.nlm.nih.gov/?term=L1CAM	None	None	6732	1681
L2HGDH	L-2-hydroxyglutarate dehydrogenase	L-2-hydroxyglutaric aciduria?0010472	https://raresource.nih.gov/literature/gene/L2HGDH	79944	ENSG00000087299	20499	https://pubmed.ncbi.nlm.nih.gov/?term=L2HGDH	None	None	20587	105
LACC1	laccase domain containing 1	Juvenile arthritis due to defect in LACC1?0016382	https://raresource.nih.gov/literature/gene/LACC1	144811	ENSG00000179630	26789	https://pubmed.ncbi.nlm.nih.gov/?term=LACC1	None	None	5034	86
LAGE3	L antigen family member 3	Galloway-Mowat syndrome?0000065;Galloway-Mowat syndrome 2, X-linked?0015281	https://raresource.nih.gov/literature/gene/LAGE3	8270	ENSG00000196976	26058	https://pubmed.ncbi.nlm.nih.gov/?term=LAGE3	None	None	770	78
LAMA1	laminin subunit alpha 1	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome?0017597	https://raresource.nih.gov/literature/gene/LAMA1	284217	ENSG00000101680	6481	https://pubmed.ncbi.nlm.nih.gov/?term=LAMA1	None	None	48982	335
LAMA2	laminin subunit alpha 2	Muscular dystrophy, limb-girdle, autosomal recessive 23?0022270;LAMA2-related muscular dystrophy?0026089;Merosin deficient congenital muscular dystrophy?0003843	https://raresource.nih.gov/literature/gene/LAMA2	3908	ENSG00000196569	6482	https://pubmed.ncbi.nlm.nih.gov/?term=LAMA2	None	None	245605	530
LAMA3	laminin subunit alpha 3	Epidermolysis bullosa, junctional 2B, severe?0025630;Epidermolysis bullosa, junctional 2A, intermediate?0025629;Junctional epidermolysis bullosa gravis of Herlitz?0002153;Laryngo-onycho-cutaneous syndrome?0000368;Generalized junctional epidermolysis bullosa non-Herlitz type?0012922	https://raresource.nih.gov/literature/gene/LAMA3	3909	ENSG00000053747	6483	https://pubmed.ncbi.nlm.nih.gov/?term=LAMA3	None	None	58363	280
LAMA4	laminin subunit alpha 4	Dilated cardiomyopathy 1JJ?0015924;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/LAMA4	3910	ENSG00000112769	6484	https://pubmed.ncbi.nlm.nih.gov/?term=LAMA4	None	None	54486	426
LAMA5	laminin subunit alpha 5	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Bent bone dysplasia syndrome 2?0026746;LAMA5-related multisystemic syndrome?0022146	https://raresource.nih.gov/literature/gene/LAMA5	3911	ENSG00000130702	6485	https://pubmed.ncbi.nlm.nih.gov/?term=LAMA5	None	None	35063	237
LAMB1	laminin subunit beta 1	Cobblestone lissencephaly without muscular or ocular involvement?0017526	https://raresource.nih.gov/literature/gene/LAMB1	3912	ENSG00000091136	6486	https://pubmed.ncbi.nlm.nih.gov/?term=LAMB1	None	None	32263	271
LAMB2	laminin subunit beta 2	Pierson syndrome?0009420	https://raresource.nih.gov/literature/gene/LAMB2	3913	ENSG00000172037	6487	https://pubmed.ncbi.nlm.nih.gov/?term=LAMB2	None	None	6466	232
LAMB3	laminin subunit beta 3	Amelogenesis imperfecta type 1?0000645;Junctional epidermolysis bullosa gravis of Herlitz?0002153;Amelogenesis imperfecta type 1A?0015038;Junctional epidermolysis bullosa, non-Herlitz type?0024652;Generalized junctional epidermolysis bullosa non-Herlitz type?0012922	https://raresource.nih.gov/literature/gene/LAMB3	3914	ENSG00000196878	6490	https://pubmed.ncbi.nlm.nih.gov/?term=LAMB3	None	None	15775	376
LAMC2	laminin subunit gamma 2	Epidermolysis bullosa, junctional 3A, intermediate?0025631;Junctional epidermolysis bullosa gravis of Herlitz?0002153;Epidermolysis bullosa, junctional 3B, severe?0025632;Generalized junctional epidermolysis bullosa non-Herlitz type?0012922	https://raresource.nih.gov/literature/gene/LAMC2	3918	ENSG00000058085	6493	https://pubmed.ncbi.nlm.nih.gov/?term=LAMC2	None	None	21987	2487
LAMC3	laminin subunit gamma 3	Occipital pachygyria and polymicrogyria?0017299	https://raresource.nih.gov/literature/gene/LAMC3	10319	ENSG00000050555	6494	https://pubmed.ncbi.nlm.nih.gov/?term=LAMC3	None	None	36756	67
LAMP2	lysosomal associated membrane protein 2	Danon disease?0009730	https://raresource.nih.gov/literature/gene/LAMP2	3920	ENSG00000005893	6501	https://pubmed.ncbi.nlm.nih.gov/?term=LAMP2	None	None	8065	1635
LAMTOR2	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	Primary immunodeficiency syndrome due to p14 deficiency?0016783	https://raresource.nih.gov/literature/gene/LAMTOR2	28956	ENSG00000116586	29796	https://pubmed.ncbi.nlm.nih.gov/?term=LAMTOR2	None	None	1693	1215
LARGE1	LARGE xylosyl- and glucuronyltransferase 1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1?0024665;Walker-Warburg congenital muscular dystrophy?0002599;Muscular dystrophy-dystroglycanopathy type B6?0024846;Congenital muscular dystrophy with intellectual disability?0017606;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6?0015626	https://raresource.nih.gov/literature/gene/LARGE1	9215	ENSG00000133424	6511	https://pubmed.ncbi.nlm.nih.gov/?term=LARGE1	None	None	180169	454
LARP7	La ribonucleoprotein 7, transcriptional regulator	Microcephalic primordial dwarfism, Alazami type?0017468	https://raresource.nih.gov/literature/gene/LARP7	51574	ENSG00000174720	24912	https://pubmed.ncbi.nlm.nih.gov/?term=LARP7	None	None	9889	116
LARS1	leucyl-tRNA synthetase 1	Infantile liver failure syndrome 1?0013114	https://raresource.nih.gov/literature/gene/LARS1	51520	ENSG00000133706	6512	https://pubmed.ncbi.nlm.nih.gov/?term=LARS1	None	None	30561	400
LARS2	leucyl-tRNA synthetase 2, mitochondrial	Perrault syndrome 4?0015943;Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome?0017966	https://raresource.nih.gov/literature/gene/LARS2	23395	ENSG00000011376	17095	https://pubmed.ncbi.nlm.nih.gov/?term=LARS2	None	None	60459	281
LAS1L	LAS1 like ribosome biogenesis factor	Wilson-Turner syndrome?0005579;Spinal muscular atrophy with respiratory distress type 2?0021723	https://raresource.nih.gov/literature/gene/LAS1L	81887	ENSG00000001497	25726	https://pubmed.ncbi.nlm.nih.gov/?term=LAS1L	None	None	4966	154
LAT	linker for activation of T cells	Severe combined immunodeficiency due to LAT deficiency?0017938	https://raresource.nih.gov/literature/gene/LAT	27040	ENSG00000213658	18874	https://pubmed.ncbi.nlm.nih.gov/?term=LAT	None	None	2964	2890
LBR	lamin B receptor	Pelger-Huët anomaly?0009148;Reynolds syndrome?0004697;Greenberg dysplasia?0008754;Regressive spondylometaphyseal dysplasia?0017782	https://raresource.nih.gov/literature/gene/LBR	3930	ENSG00000143815	6518	https://pubmed.ncbi.nlm.nih.gov/?term=LBR	None	None	10982	3627
LCA5	lebercilin LCA5	Leber congenital amaurosis?0000634;Leber congenital amaurosis 5?0009983;LCA5-related retinopathy?0026220	https://raresource.nih.gov/literature/gene/LCA5	167691	ENSG00000135338	31923	https://pubmed.ncbi.nlm.nih.gov/?term=LCA5	None	None	20839	58
LCAT	lecithin-cholesterol acyltransferase	Norum disease?0004011;Fish-eye disease?0006450	https://raresource.nih.gov/literature/gene/LCAT	3931	ENSG00000213398	6522	https://pubmed.ncbi.nlm.nih.gov/?term=LCAT	None	None	1864	3714
LCK	LCK proto-oncogene, Src family tyrosine kinase	Severe combined immunodeficiency due to LCK deficiency?0017288	https://raresource.nih.gov/literature/gene/LCK	3932	ENSG00000182866	6524	https://pubmed.ncbi.nlm.nih.gov/?term=LCK	None	None	20160	3847
LCT	lactase	Congenital lactase deficiency?0012311	https://raresource.nih.gov/literature/gene/LCT	3938	ENSG00000115850	6530	https://pubmed.ncbi.nlm.nih.gov/?term=LCT	None	None	21135	5383
LDB3	LIM domain binding 3	Familial isolated dilated cardiomyopathy?0027293;Familial isolated arrhythmogenic ventricular dysplasia, biventricular form?0017346;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form?0017347;Dilated cardiomyopathy 1C?0015331;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form?0017345;Myofibrillar myopathy 4?0001886	https://raresource.nih.gov/literature/gene/LDB3	11155	ENSG00000122367	15710	https://pubmed.ncbi.nlm.nih.gov/?term=LDB3	None	None	26859	216
LDHA	lactate dehydrogenase A	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency?0003160	https://raresource.nih.gov/literature/gene/LDHA	3939	ENSG00000134333	6535	https://pubmed.ncbi.nlm.nih.gov/?term=LDHA	None	None	7963	3193
LDHB	lactate dehydrogenase B	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency?0003161	https://raresource.nih.gov/literature/gene/LDHB	3945	ENSG00000111716	6541	https://pubmed.ncbi.nlm.nih.gov/?term=LDHB	None	None	29244	819
LDHD	lactate dehydrogenase D	Lactic aciduria due to D-lactic acid?0024675	https://raresource.nih.gov/literature/gene/LDHD	197257	ENSG00000166816	19708	https://pubmed.ncbi.nlm.nih.gov/?term=LDHD	None	None	3023	728
LDLR	low density lipoprotein receptor	Homozygous familial hypercholesterolemia?0010416;Hypercholesterolemia, familial, 1?0024574	https://raresource.nih.gov/literature/gene/LDLR	3949	ENSG00000130164	6547	https://pubmed.ncbi.nlm.nih.gov/?term=LDLR	None	None	18072	13913
LDLRAP1	low density lipoprotein receptor adaptor protein 1	Homozygous familial hypercholesterolemia?0010416;Hypercholesterolemia, familial, 4?0018614	https://raresource.nih.gov/literature/gene/LDLRAP1	26119	ENSG00000157978	18640	https://pubmed.ncbi.nlm.nih.gov/?term=LDLRAP1	None	None	10916	334
LEFTY2	left-right determination factor 2	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/LEFTY2	7044	ENSG00000143768	3122	https://pubmed.ncbi.nlm.nih.gov/?term=LEFTY2	None	None	3391	194
LEMD2	LEM domain nuclear envelope protein 2	Early-onset posterior subcapsular cataract?0021846;Congenital total cataract?0001159;Marbach-Rustad progeroid syndrome?0026658;Cataract 46 juvenile-onset?0001150	https://raresource.nih.gov/literature/gene/LEMD2	221496	ENSG00000161904	21244	https://pubmed.ncbi.nlm.nih.gov/?term=LEMD2	None	None	8338	86
LEMD3	LEM domain containing 3	Dermatofibrosis lenticularis disseminata?0027355;Melorheostosis with osteopoikilosis?0003690;Isolated osteopoikilosis?0017027	https://raresource.nih.gov/literature/gene/LEMD3	23592	ENSG00000174106	28887	https://pubmed.ncbi.nlm.nih.gov/?term=LEMD3	None	None	19625	195
LEP	leptin	Obesity due to congenital leptin deficiency?0013015	https://raresource.nih.gov/literature/gene/LEP	3952	ENSG00000174697	6553	https://pubmed.ncbi.nlm.nih.gov/?term=LEP	None	None	7621	41161
LEPR	leptin receptor	Obesity due to leptin receptor gene deficiency?0017083	https://raresource.nih.gov/literature/gene/LEPR	3953	ENSG00000116678	6554	https://pubmed.ncbi.nlm.nih.gov/?term=LEPR	None	None	84669	234
LETM1	leucine zipper and EF-hand containing transmembrane protein 1	Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction?0027311;4p partial monosomy syndrome?0007896	https://raresource.nih.gov/literature/gene/LETM1	3954	ENSG00000168924	6556	https://pubmed.ncbi.nlm.nih.gov/?term=LETM1	None	None	20913	168
LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	Autosomal recessive spondylocostal dysostosis?0006798;Spondylocostal dysostosis 3, autosomal recessive?0004973	https://raresource.nih.gov/literature/gene/LFNG	3955	ENSG00000106003	6560	https://pubmed.ncbi.nlm.nih.gov/?term=LFNG	None	None	9317	113
LGI1	leucine rich glioma inactivated 1	Autosomal dominant epilepsy with auditory features?0002257;Epilepsy, familial temporal lobe, 1?0026356	https://raresource.nih.gov/literature/gene/LGI1	9211	ENSG00000108231	6572	https://pubmed.ncbi.nlm.nih.gov/?term=LGI1	None	None	18549	1122
LGI4	leucine rich repeat LGI family member 4	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect?0018566	https://raresource.nih.gov/literature/gene/LGI4	163175	ENSG00000153902	18712	https://pubmed.ncbi.nlm.nih.gov/?term=LGI4	None	None	4953	41
LHB	luteinizing hormone subunit beta	Isolated lutropin deficiency?0010127	https://raresource.nih.gov/literature/gene/LHB	3972	ENSG00000104826	6584	https://pubmed.ncbi.nlm.nih.gov/?term=LHB	None	None	614	532
LHCGR	luteinizing hormone/choriogonadotropin receptor	Leydig cell hypoplasia due to partial LH resistance?0016852;Leydig cell hypoplasia due to complete LH resistance?0016851;Leydig cell agenesis?0024669;Gonadotropin-independent familial sexual precocity?0004475	https://raresource.nih.gov/literature/gene/LHCGR	3973	ENSG00000138039	6585	https://pubmed.ncbi.nlm.nih.gov/?term=LHCGR	None	None	1391	2034
LHFPL5	LHFPL tetraspan subfamily member 5	Autosomal recessive nonsyndromic hearing loss 67?0022624;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/LHFPL5	222662	ENSG00000197753	21253	https://pubmed.ncbi.nlm.nih.gov/?term=LHFPL5	None	None	17357	60
LHX3	LIM homeobox 3	Hypothyroidism due to deficient transcription factors involved in pituitary development or function?0020562;Non-acquired combined pituitary hormone deficiency with spine abnormalities?0010603	https://raresource.nih.gov/literature/gene/LHX3	8022	ENSG00000107187	6595	https://pubmed.ncbi.nlm.nih.gov/?term=LHX3	None	None	5479	369
LHX4	LIM homeobox 4	Hypothyroidism due to deficient transcription factors involved in pituitary development or function?0020562;Pituitary stalk interruption syndrome?0013209;Combined pituitary hormone deficiencies, genetic form?0010602;Short stature-pituitary and cerebellar defects-small sella turcica syndrome?0010604	https://raresource.nih.gov/literature/gene/LHX4	89884	ENSG00000121454	21734	https://pubmed.ncbi.nlm.nih.gov/?term=LHX4	None	None	18511	171
LIAS	lipoic acid synthetase	Lipoic acid synthetase deficiency?0012678	https://raresource.nih.gov/literature/gene/LIAS	11019	ENSG00000121897	16429	https://pubmed.ncbi.nlm.nih.gov/?term=LIAS	None	None	8993	1049
LIFR	LIF receptor subunit alpha	Stüve-Wiedemann syndrome 1?0005045	https://raresource.nih.gov/literature/gene/LIFR	3977	ENSG00000113594	6597	https://pubmed.ncbi.nlm.nih.gov/?term=LIFR	None	None	53180	938
LIG3	DNA ligase 3	Mitochondrial DNA depletion syndrome 20 (mngie type)?0025615;Mitochondrial neurogastrointestinal encephalomyopathy?0009920	https://raresource.nih.gov/literature/gene/LIG3	3980	ENSG00000005156	6600	https://pubmed.ncbi.nlm.nih.gov/?term=LIG3	None	None	10137	206
LIG4	DNA ligase 4	Dubowitz syndrome?0006290;Multiple myeloma?0007108;DNA ligase IV deficiency?0015000	https://raresource.nih.gov/literature/gene/LIG4	3981	ENSG00000174405	6601	https://pubmed.ncbi.nlm.nih.gov/?term=LIG4	None	None	6220	1067
LIM2	lens intrinsic membrane protein 2	Congenital total cataract?0001159;Cataract 19 multiple types?0024972	https://raresource.nih.gov/literature/gene/LIM2	3982	ENSG00000105370	6610	https://pubmed.ncbi.nlm.nih.gov/?term=LIM2	None	None	3185	169
LIMS2	LIM zinc finger domain containing 2	Autosomal recessive limb-girdle muscular dystrophy type 2W?0017834	https://raresource.nih.gov/literature/gene/LIMS2	55679	ENSG00000072163	16084	https://pubmed.ncbi.nlm.nih.gov/?term=LIMS2	None	None	16668	55
LINGO1	leucine rich repeat and Ig domain containing 1	Intellectual disability, autosomal recessive 64?0025261	https://raresource.nih.gov/literature/gene/LINGO1	84894	ENSG00000169783	21205	https://pubmed.ncbi.nlm.nih.gov/?term=LINGO1	None	None	52378	117
LINS1	lines homolog 1	Autosomal recessive non-syndromic intellectual disability?0018643;Intellectual disability, autosomal recessive 27?0022555	https://raresource.nih.gov/literature/gene/LINS1	55180	ENSG00000140471	30922	https://pubmed.ncbi.nlm.nih.gov/?term=LINS1	None	None	10289	20
LIPA	lipase A, lysosomal acid type	Wolman disease?0007899;Cholesteryl ester storage disease?0012099	https://raresource.nih.gov/literature/gene/LIPA	3988	ENSG00000107798	6617	https://pubmed.ncbi.nlm.nih.gov/?term=LIPA	None	None	52937	1343
LIPC	lipase C, hepatic type	Hyperlipidemia due to hepatic triglyceride lipase deficiency?0012864	https://raresource.nih.gov/literature/gene/LIPC	3990	ENSG00000166035	6619	https://pubmed.ncbi.nlm.nih.gov/?term=LIPC	None	None	47487	3736
LIPE	lipase E, hormone sensitive type	LIPE-related familial partial lipodystrophy?0013126	https://raresource.nih.gov/literature/gene/LIPE	3991	ENSG00000079435	6621	https://pubmed.ncbi.nlm.nih.gov/?term=LIPE	None	None	8124	3012
LIPH	lipase H	Hypotrichosis 7?0008178;Hypotrichosis simplex?0009170;Wooly hair?0005597	https://raresource.nih.gov/literature/gene/LIPH	200879	ENSG00000163898	18483	https://pubmed.ncbi.nlm.nih.gov/?term=LIPH	None	None	20833	608
LIPN	lipase family member N	Lamellar ichthyosis?0010803;Autosomal recessive congenital ichthyosis 8?0016457	https://raresource.nih.gov/literature/gene/LIPN	643418	ENSG00000204020	23452	https://pubmed.ncbi.nlm.nih.gov/?term=LIPN	None	None	7598	22
LIPT1	lipoyltransferase 1	Lipoyl transferase 1 deficiency?0012680	https://raresource.nih.gov/literature/gene/LIPT1	51601	ENSG00000144182	29569	https://pubmed.ncbi.nlm.nih.gov/?term=LIPT1	None	None	3526	129
LITAF	lipopolysaccharide induced TNF factor	Charcot-Marie-Tooth disease type 1C?0001247	https://raresource.nih.gov/literature/gene/LITAF	9516	ENSG00000189067	16841	https://pubmed.ncbi.nlm.nih.gov/?term=LITAF	None	None	26602	351
LMAN1	lectin, mannose binding 1	Combined deficiency of factor V and factor VIII?0016639;Factor V and factor VIII, combined deficiency of, type 1?0018630	https://raresource.nih.gov/literature/gene/LMAN1	3998	ENSG00000074695	6631	https://pubmed.ncbi.nlm.nih.gov/?term=LMAN1	None	None	8856	296
LMAN2L	lectin, mannose binding 2 like	Intellectual disability, autosomal recessive 52?0022572;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/LMAN2L	81562	ENSG00000114988	19263	https://pubmed.ncbi.nlm.nih.gov/?term=LMAN2L	None	None	13535	20
LMBR1	limb development membrane protein 1	Triphalangeal thumb-polysyndactyly syndrome?0025097;Tibia, hypoplasia or aplasia of, with polydactyly?0008309;Syndactyly type 4?0004434;Laurin-Sandrow syndrome?0000155;Radial hemimelia?0000225;Polydactyly of a triphalangeal thumb?0005289;Acheiropodia?0000376	https://raresource.nih.gov/literature/gene/LMBR1	64327	ENSG00000105983	13243	https://pubmed.ncbi.nlm.nih.gov/?term=LMBR1	None	None	78302	340
LMBRD1	LMBR1 domain containing 1	Methylmalonic aciduria and homocystinuria type cblF?0003584	https://raresource.nih.gov/literature/gene/LMBRD1	55788	ENSG00000168216	23038	https://pubmed.ncbi.nlm.nih.gov/?term=LMBRD1	None	None	69447	38
LMCD1	LIM and cysteine rich domains 1	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/LMCD1	29995	ENSG00000071282	6633	https://pubmed.ncbi.nlm.nih.gov/?term=LMCD1	None	None	25427	65
LMF1	lipase maturation factor 1	Lipase deficiency, combined?0010244	https://raresource.nih.gov/literature/gene/LMF1	64788	ENSG00000103227	14154	https://pubmed.ncbi.nlm.nih.gov/?term=LMF1	None	None	51071	149
LMNA	lamin A/C	Autosomal dominant Emery-Dreifuss muscular dystrophy?0016865;Emery-Dreifuss muscular dystrophy 3, autosomal recessive?0018209;Charcot-Marie-Tooth disease type 2B1?0008548;LMNA-related cardiocutaneous progeria syndrome?0021555;Lethal tight skin contracture syndrome?0001516;Congenital muscular dystrophy due to LMNA mutation?0012585;Atypical Werner syndrome?0011910;Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome?0003373;Familial partial lipodystrophy, Dunnigan type?0003126;Familial isolated arrhythmogenic ventricular dysplasia, biventricular form?0017346;Mandibuloacral dysplasia with type A lipodystrophy?0003374;Hutchinson-Gilford syndrome?0007467;Autosomal semi-dominant severe lipodystrophic laminopathy?0021080;Restrictive dermopathy 2?0025636;Heart-hand syndrome, Slovenian type?0009846;Emery-Dreifuss muscular dystrophy 2, autosomal dominant?0010230;Familial isolated dilated cardiomyopathy?0027293;Dilated cardiomyopathy 1A?0018615;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form?0017347;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form?0017345	https://raresource.nih.gov/literature/gene/LMNA	4000	ENSG00000160789	6636	https://pubmed.ncbi.nlm.nih.gov/?term=LMNA	None	None	22774	3902
LMNB1	lamin B1	Adult-onset autosomal dominant demyelinating leukodystrophy?0010587;Microcephaly 26, primary, autosomal dominant?0016432;Autosomal dominant primary microcephaly?0003605	https://raresource.nih.gov/literature/gene/LMNB1	4001	ENSG00000113368	6637	https://pubmed.ncbi.nlm.nih.gov/?term=LMNB1	None	None	28959	869
LMNB2	lamin B2	Microcephaly 27, primary, autosomal dominant?0016433;Acquired partial lipodystrophy?0010509;Progressive myoclonic epilepsy type 9?0017801	https://raresource.nih.gov/literature/gene/LMNB2	84823	ENSG00000176619	6638	https://pubmed.ncbi.nlm.nih.gov/?term=LMNB2	None	None	10430	438
LMOD2	leiomodin 2	Cardiomyopathy, dilated, 2G?0025652;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/LMOD2	442721	ENSG00000170807	6648	https://pubmed.ncbi.nlm.nih.gov/?term=LMOD2	None	None	4259	50
LMOD3	leiomodin 3	Severe congenital nemaline myopathy?0012821;Typical nemaline myopathy?0012822;Nemaline myopathy 10?0016066	https://raresource.nih.gov/literature/gene/LMOD3	56203	ENSG00000163380	6649	https://pubmed.ncbi.nlm.nih.gov/?term=LMOD3	None	None	9093	44
LMX1A	LIM homeobox transcription factor 1 alpha	Autosomal dominant nonsyndromic hearing loss 7?0018106	https://raresource.nih.gov/literature/gene/LMX1A	4009	ENSG00000162761	6653	https://pubmed.ncbi.nlm.nih.gov/?term=LMX1A	None	None	54621	326
LMX1B	LIM homeobox transcription factor 1 beta	Nail-patella syndrome?0007160;Nail-patella-like renal disease?0000321	https://raresource.nih.gov/literature/gene/LMX1B	4010	ENSG00000136944	6654	https://pubmed.ncbi.nlm.nih.gov/?term=LMX1B	None	None	34739	490
LONP1	lon peptidase 1, mitochondrial	CODAS syndrome?0001418	https://raresource.nih.gov/literature/gene/LONP1	9361	ENSG00000196365	9479	https://pubmed.ncbi.nlm.nih.gov/?term=LONP1	None	None	13052	1828
LORICRIN	loricrin cornified envelope precursor protein	Loricrin keratoderma?0016719	https://raresource.nih.gov/literature/gene/LORICRIN	4014	ENSG00000203782	6663	https://pubmed.ncbi.nlm.nih.gov/?term=LORICRIN	None	None	None	926
LOX	lysyl oxidase	Familial thoracic aortic aneurysm and aortic dissection?0002249;Ehlers-Danlos syndrome, type 4?0002082;Aortic aneurysm, familial thoracic 10?0016207	https://raresource.nih.gov/literature/gene/LOX	4015	ENSG00000113083	6664	https://pubmed.ncbi.nlm.nih.gov/?term=LOX	None	None	6928	9815
LOXHD1	lipoxygenase homology PLAT domains 1	Autosomal recessive nonsyndromic hearing loss 77?0022631;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/LOXHD1	125336	ENSG00000167210	26521	https://pubmed.ncbi.nlm.nih.gov/?term=LOXHD1	None	None	42544	78
LPAR4	lysophosphatidic acid receptor 4	Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/LPAR4	2846	ENSG00000147145	4478	https://pubmed.ncbi.nlm.nih.gov/?term=LPAR4	None	None	2621	135
LPAR6	lysophosphatidic acid receptor 6	Hypotrichosis 8?0015247;Hypotrichosis simplex?0009170;Wooly hair?0005597	https://raresource.nih.gov/literature/gene/LPAR6	10161	ENSG00000139679	15520	https://pubmed.ncbi.nlm.nih.gov/?term=LPAR6	None	None	692	172
LPIN1	lipin 1	Hereditary recurrent myoglobinuria?0016916;Myoglobinuria, acute recurrent, autosomal recessive?0018251	https://raresource.nih.gov/literature/gene/LPIN1	23175	ENSG00000134324	13345	https://pubmed.ncbi.nlm.nih.gov/?term=LPIN1	None	None	58378	879
LPIN2	lipin 2	Majeed syndrome?0010088	https://raresource.nih.gov/literature/gene/LPIN2	9663	ENSG00000101577	14450	https://pubmed.ncbi.nlm.nih.gov/?term=LPIN2	None	None	35660	127
LPL	lipoprotein lipase	Hyperlipidemia, familial combined, LPL related?0015077;Hyperlipoproteinemia, type I?0012241	https://raresource.nih.gov/literature/gene/LPL	4023	ENSG00000175445	6677	https://pubmed.ncbi.nlm.nih.gov/?term=LPL	None	None	13231	11540
LPP	LIM domain containing preferred translocation partner in lipoma	Acute myeloid leukemia?0012757	https://raresource.nih.gov/literature/gene/LPP	4026	ENSG00000145012	6679	https://pubmed.ncbi.nlm.nih.gov/?term=LPP	None	None	257789	741
LRAT	lecithin retinol acyltransferase	Leber congenital amaurosis?0000634;Leber congenital amaurosis 14?0010883;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/LRAT	9227	ENSG00000121207	6685	https://pubmed.ncbi.nlm.nih.gov/?term=LRAT	None	None	44389	406
LRBA	LPS responsive beige-like anchor protein	Combined immunodeficiency due to LRBA deficiency?0013565	https://raresource.nih.gov/literature/gene/LRBA	987	ENSG00000198589	1742	https://pubmed.ncbi.nlm.nih.gov/?term=LRBA	None	None	290966	70
LRIF1	ligand dependent nuclear receptor interacting factor 1	Facioscapulohumeral muscular dystrophy 3, digenic?0025548	https://raresource.nih.gov/literature/gene/LRIF1	55791	ENSG00000121931	30299	https://pubmed.ncbi.nlm.nih.gov/?term=LRIF1	None	None	4421	391
LRIG2	leucine rich repeats and immunoglobulin like domains 2	Ochoa syndrome?0000104;Urofacial syndrome 2?0015907	https://raresource.nih.gov/literature/gene/LRIG2	9860	ENSG00000198799	20889	https://pubmed.ncbi.nlm.nih.gov/?term=LRIG2	None	None	25161	82
LRIT3	leucine rich repeat, Ig-like and transmembrane domains 3	Congenital stationary night blindness?0025068;LRIT3-related retinopathy?0027238;Congenital stationary night blindness 1F?0015899	https://raresource.nih.gov/literature/gene/LRIT3	345193	ENSG00000183423	24783	https://pubmed.ncbi.nlm.nih.gov/?term=LRIT3	None	None	10241	26
LRMDA	leucine rich melanocyte differentiation associated	Oculocutaneous albinism type 7?0017531	https://raresource.nih.gov/literature/gene/LRMDA	83938	ENSG00000148655	23405	https://pubmed.ncbi.nlm.nih.gov/?term=LRMDA	None	None	389020	24
LRP1	LDL receptor related protein 1	Keratosis pilaris atrophicans?0018694;Keratosis follicularis spinulosa decalvans?0006829;Atrophoderma vermiculatum?0009744	https://raresource.nih.gov/literature/gene/LRP1	4035	ENSG00000123384	6692	https://pubmed.ncbi.nlm.nih.gov/?term=LRP1	None	None	25270	4607
LRP12	LDL receptor related protein 12	Amyotrophic lateral sclerosis 28?0026858;Oculopharyngodistal myopathy?0012592;Oculopharyngodistal myopathy 1?0015097	https://raresource.nih.gov/literature/gene/LRP12	29967	ENSG00000147650	31708	https://pubmed.ncbi.nlm.nih.gov/?term=LRP12	None	None	39780	112
LRP2	LDL receptor related protein 2	Donnai-Barrow syndrome?0001899	https://raresource.nih.gov/literature/gene/LRP2	4036	ENSG00000081479	6694	https://pubmed.ncbi.nlm.nih.gov/?term=LRP2	None	None	95779	1543
LRP4	LDL receptor related protein 4	Congenital myasthenic syndrome 17?0016080;Postsynaptic congenital myasthenic syndrome?0015022;Sclerosteosis?0004771;Cenani-Lenz syndactyly syndrome?0005084;Sclerosteosis 2?0015786	https://raresource.nih.gov/literature/gene/LRP4	4038	ENSG00000134569	6696	https://pubmed.ncbi.nlm.nih.gov/?term=LRP4	None	None	24736	575
LRP5	LDL receptor related protein 5	Osteosclerosis-developmental delay-craniosynostosis syndrome?0020147;Exudative vitreoretinopathy 4?0015337;LRP5-related exudative vitreoretinopathy?0026378;Polycystic liver disease 4 with or without kidney cysts?0025896;LRP5-related primary osteoporosis?0022031;Autosomal dominant polycystic liver disease?0009457;Osteoporosis with pseudoglioma?0004160;Familial exudative vitreoretinopathy?0001613;Exudative vitreoretinopathy 1?0015068;Autosomal dominant osteopetrosis 1?0004151;Worth disease?0000390	https://raresource.nih.gov/literature/gene/LRP5	4041	ENSG00000162337	6697	https://pubmed.ncbi.nlm.nih.gov/?term=LRP5	None	None	56635	1817
LRP6	LDL receptor related protein 6	Hypodontia?0016908;Tooth agenesis, selective, 7?0018249	https://raresource.nih.gov/literature/gene/LRP6	4040	ENSG00000070018	6698	https://pubmed.ncbi.nlm.nih.gov/?term=LRP6	None	None	40845	1428
LRPAP1	LDL receptor related protein associated protein 1	Myopia 23, autosomal recessive?0018198	https://raresource.nih.gov/literature/gene/LRPAP1	4043	ENSG00000163956	6701	https://pubmed.ncbi.nlm.nih.gov/?term=LRPAP1	None	None	14114	1295
LRPPRC	leucine rich pentatricopeptide repeat containing	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type?0008370	https://raresource.nih.gov/literature/gene/LRPPRC	10128	ENSG00000138095	15714	https://pubmed.ncbi.nlm.nih.gov/?term=LRPPRC	None	None	54280	19
LRRC56	leucine rich repeat containing 56	Ciliary dyskinesia, primary, 39?0025710;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/LRRC56	115399	ENSG00000161328	25430	https://pubmed.ncbi.nlm.nih.gov/?term=LRRC56	None	None	9608	15
LRRC8A	leucine rich repeat containing 8 VRAC subunit A	Agammaglobulinemia 5, autosomal dominant?0015675;Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/LRRC8A	56262	ENSG00000136802	19027	https://pubmed.ncbi.nlm.nih.gov/?term=LRRC8A	None	None	14078	282
LRRK1	leucine rich repeat kinase 1	Osteosclerotic metaphyseal dysplasia?0017931	https://raresource.nih.gov/literature/gene/LRRK1	79705	ENSG00000154237	18608	https://pubmed.ncbi.nlm.nih.gov/?term=LRRK1	None	None	59509	113
LRRK2	leucine rich repeat kinase 2	Autosomal dominant Parkinson disease 8?0018476	https://raresource.nih.gov/literature/gene/LRRK2	120892	ENSG00000188906	18618	https://pubmed.ncbi.nlm.nih.gov/?term=LRRK2	None	None	38490	3735
LRSAM1	leucine rich repeat and sterile alpha motif containing 1	Charcot-Marie-Tooth disease axonal type 2P?0012435	https://raresource.nih.gov/literature/gene/LRSAM1	90678	ENSG00000148356	25135	https://pubmed.ncbi.nlm.nih.gov/?term=LRSAM1	None	None	20786	470
LRTOMT	leucine rich transmembrane and O-methyltransferase domain containing	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 63?0022627	https://raresource.nih.gov/literature/gene/LRTOMT	220074	ENSG00000284922	25033	https://pubmed.ncbi.nlm.nih.gov/?term=LRTOMT	None	None	9115	25
LSM11	LSM11, U7 small nuclear RNA associated	Aicardi Goutieres syndrome?0000575;Aicardi-Goutieres syndrome 8?0025552	https://raresource.nih.gov/literature/gene/LSM11	134353	ENSG00000155858	30860	https://pubmed.ncbi.nlm.nih.gov/?term=LSM11	None	None	7241	50
LSS	lanosterol synthase	Congenital total cataract?0001159;Cataract 44?0016127;Alopecia - intellectual disability syndrome?0000612;Alopecia-intellectual disability syndrome 4?0016386;Hypotrichosis simplex?0009170;Hypotrichosis 14?0016335;Autosomal recessive palmoplantar keratoderma and congenital alopecia?0001139	https://raresource.nih.gov/literature/gene/LSS	4047	ENSG00000160285	6708	https://pubmed.ncbi.nlm.nih.gov/?term=LSS	None	None	13744	23
LTBP1	latent transforming growth factor beta binding protein 1	Cutis laxa, autosomal recessive, type 2E?0025543;Autosomal recessive cutis laxa type 1?0008480	https://raresource.nih.gov/literature/gene/LTBP1	4052	ENSG00000049323	6714	https://pubmed.ncbi.nlm.nih.gov/?term=LTBP1	None	None	186489	316
LTBP2	latent transforming growth factor beta binding protein 2	Weill-Marchesani syndrome?0004936;Weill-Marchesani syndrome 3?0015844;Glaucoma 3, primary infantile, B?0002490;Glaucoma secondary to spherophakia/ectopia lentis and megalocornea?0010942;Glaucoma 3, primary congenital, D?0018226	https://raresource.nih.gov/literature/gene/LTBP2	4053	ENSG00000119681	6715	https://pubmed.ncbi.nlm.nih.gov/?term=LTBP2	None	None	29832	369
LTBP3	latent transforming growth factor beta binding protein 3	Geleophysic dysplasia?0002449;Geleophysic dysplasia 3?0016255;Ehlers-Danlos syndrome, type 4?0002082;Brachyolmia-amelogenesis imperfecta syndrome?0005478	https://raresource.nih.gov/literature/gene/LTBP3	4054	ENSG00000168056	6716	https://pubmed.ncbi.nlm.nih.gov/?term=LTBP3	None	None	9707	359
LTBP4	latent transforming growth factor beta binding protein 4	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies?0017140	https://raresource.nih.gov/literature/gene/LTBP4	8425	ENSG00000090006	6717	https://pubmed.ncbi.nlm.nih.gov/?term=LTBP4	None	None	12665	183
LTC4S	leukotriene C4 synthase	Hypotonia-failure to thrive-microcephaly syndrome?0016725	https://raresource.nih.gov/literature/gene/LTC4S	4056	ENSG00000213316	6719	https://pubmed.ncbi.nlm.nih.gov/?term=LTC4S	None	None	1855	379
LTV1	LTV1 ribosome biogenesis factor	Inflammatory poikiloderma with hair abnormalities and acral keratoses?0026711	https://raresource.nih.gov/literature/gene/LTV1	84946	ENSG00000135521	21173	https://pubmed.ncbi.nlm.nih.gov/?term=LTV1	None	None	7888	33
LYN	LYN proto-oncogene, Src family tyrosine kinase	Autoinflammatory disease, systemic, with vasculitis?0026806	https://raresource.nih.gov/literature/gene/LYN	4067	ENSG00000254087	6735	https://pubmed.ncbi.nlm.nih.gov/?term=LYN	None	None	47092	2724
LYRM4	LYR motif containing 4	Combined oxidative phosphorylation deficiency 19?0018466;Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency?0027545	https://raresource.nih.gov/literature/gene/LYRM4	57128	ENSG00000214113	21365	https://pubmed.ncbi.nlm.nih.gov/?term=LYRM4	None	None	61589	82
LYRM7	LYR motif containing 7	Mitochondrial complex III deficiency?0008295;Mitochondrial complex III deficiency nuclear type 8?0016018	https://raresource.nih.gov/literature/gene/LYRM7	90624	ENSG00000186687	28072	https://pubmed.ncbi.nlm.nih.gov/?term=LYRM7	None	None	15892	27
LYSET	lysosomal enzyme trafficking factor	Dysostosis multiplex, Ain-Naz type?0026660	https://raresource.nih.gov/literature/gene/LYSET	26175	ENSG00000153485	20218	https://pubmed.ncbi.nlm.nih.gov/?term=LYSET	None	None	None	20
LYST	lysosomal trafficking regulator	Attenuated Chédiak-Higashi syndrome?0021527;Chédiak-Higashi syndrome?0006035	https://raresource.nih.gov/literature/gene/LYST	1130	ENSG00000143669	1968	https://pubmed.ncbi.nlm.nih.gov/?term=LYST	None	None	90512	1764
LYZ	lysozyme	ALys amyloidosis?0019225;Amyloidosis, hereditary systemic 5?0027102	https://raresource.nih.gov/literature/gene/LYZ	4069	ENSG00000090382	6740	https://pubmed.ncbi.nlm.nih.gov/?term=LYZ	None	None	3159	24757
LZTFL1	leucine zipper transcription factor like 1	Bardet-Biedl syndrome 17?0016041;LZTFL1-related ciliopathy?0027248;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/LZTFL1	54585	ENSG00000163818	6741	https://pubmed.ncbi.nlm.nih.gov/?term=LZTFL1	None	None	26725	91
LZTR1	leucine zipper like post translational regulator 1	LZTR1-related schwannomatosis?0016000;Gliosarcoma?0005653;Noonan syndrome 2?0010698;Noonan syndrome 10?0016139;Cafe au lait spots, multiple?0003967;Noonan syndrome?0010955;Giant cell glioblastoma?0020705	https://raresource.nih.gov/literature/gene/LZTR1	8216	ENSG00000099949	6742	https://pubmed.ncbi.nlm.nih.gov/?term=LZTR1	None	None	6573	990
LZTS1	leucine zipper tumor suppressor 1	Carcinoma of esophagus?0006383	https://raresource.nih.gov/literature/gene/LZTS1	11178	ENSG00000061337	13861	https://pubmed.ncbi.nlm.nih.gov/?term=LZTS1	None	None	23316	192
M1AP	meiosis 1 associated protein	Spermatogenic failure 48?0016420	https://raresource.nih.gov/literature/gene/M1AP	130951	ENSG00000159374	25183	https://pubmed.ncbi.nlm.nih.gov/?term=M1AP	None	None	31887	23
MAB21L1	mab-21 like 1	Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome?0022010	https://raresource.nih.gov/literature/gene/MAB21L1	4081	ENSG00000180660	6757	https://pubmed.ncbi.nlm.nih.gov/?term=MAB21L1	None	None	678	50
MAB21L2	mab-21 like 2	Colobomatous microphthalmia-rhizomelic dysplasia syndrome?0017707	https://raresource.nih.gov/literature/gene/MAB21L2	10586	ENSG00000181541	6758	https://pubmed.ncbi.nlm.nih.gov/?term=MAB21L2	None	None	639	17
MACF1	microtubule actin crosslinking factor 1	Lissencephaly 9 with complex brainstem malformation?0018007	https://raresource.nih.gov/literature/gene/MACF1	23499	ENSG00000127603	13664	https://pubmed.ncbi.nlm.nih.gov/?term=MACF1	None	None	156937	216
MACROH2A1	macroH2A.1 histone	Brachydactyly-elbow wrist dysplasia syndrome?0000966	https://raresource.nih.gov/literature/gene/MACROH2A1	9555	ENSG00000113648	4740	https://pubmed.ncbi.nlm.nih.gov/?term=MACROH2A1	None	None	22451	221
MAD1L1	mitotic arrest deficient 1 like 1	Familial prostate cancer?0027144;Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition?0026709	https://raresource.nih.gov/literature/gene/MAD1L1	8379	ENSG00000002822	6762	https://pubmed.ncbi.nlm.nih.gov/?term=MAD1L1	None	None	69710	622
MAD2L2	mitotic arrest deficient 2 like 2	Fanconi anemia?0006425;Fanconi anemia complementation group V?0016213	https://raresource.nih.gov/literature/gene/MAD2L2	10459	ENSG00000116670	6764	https://pubmed.ncbi.nlm.nih.gov/?term=MAD2L2	None	None	6760	283
MADD	MAP kinase activating death domain	Deeah syndrome?0027368;Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia?0018528	https://raresource.nih.gov/literature/gene/MADD	8567	ENSG00000110514	6766	https://pubmed.ncbi.nlm.nih.gov/?term=MADD	None	None	25861	217
MAF	MAF bZIP transcription factor	Cataract 21 multiple types?0024866;Cataract - microcornea syndrome?0001155;Ayme-Gripp syndrome?0024765;Pulverulent cataract?0016884;Congenital blue dot cataract?0009508;Fine-Lubinsky syndrome?0000958	https://raresource.nih.gov/literature/gene/MAF	4094	ENSG00000178573	6776	https://pubmed.ncbi.nlm.nih.gov/?term=MAF	None	None	8879	2109
MAFB	MAF bZIP transcription factor B	Duane retraction syndrome 3 with or without deafness?0010691;Duane retraction syndrome?0006288;Duane retraction syndrome with congenital deafness?0017968;Multicentric carpo-tarsal osteolysis with or without nephropathy?0003818	https://raresource.nih.gov/literature/gene/MAFB	9935	ENSG00000204103	6408	https://pubmed.ncbi.nlm.nih.gov/?term=MAFB	None	None	2708	706
MAG	myelin associated glycoprotein	Hereditary spastic paraplegia 75?0017813	https://raresource.nih.gov/literature/gene/MAG	4099	ENSG00000105695	6783	https://pubmed.ncbi.nlm.nih.gov/?term=MAG	None	None	8225	2366
MAGED2	MAGE family member D2	Bartter disease type 5?0022308	https://raresource.nih.gov/literature/gene/MAGED2	10916	ENSG00000102316	16353	https://pubmed.ncbi.nlm.nih.gov/?term=MAGED2	None	None	2550	107
MAGEL2	MAGE family member L2	Schaaf-Yang syndrome?0013316;Prader-Willi syndrome?0005575	https://raresource.nih.gov/literature/gene/MAGEL2	54551	ENSG00000254585	6814	https://pubmed.ncbi.nlm.nih.gov/?term=MAGEL2	None	None	3541	203
MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	Familial idiopathic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/MAGI2	9863	ENSG00000187391	18957	https://pubmed.ncbi.nlm.nih.gov/?term=MAGI2	None	None	532606	550
MAGT1	magnesium transporter 1	Congenital disorder of glycosylation, type ICC?0025484;X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia?0010907	https://raresource.nih.gov/literature/gene/MAGT1	84061	ENSG00000102158	28880	https://pubmed.ncbi.nlm.nih.gov/?term=MAGT1	None	None	14688	3106
MAK	male germ cell associated kinase	MAK-related retinopathy?0026379;Retinitis pigmentosa 62?0015767	https://raresource.nih.gov/literature/gene/MAK	4117	ENSG00000111837	6816	https://pubmed.ncbi.nlm.nih.gov/?term=MAK	None	None	32052	276
MAL	mal, T cell differentiation protein (MAL blood group)	Pelizaeus Merzbacher like disease?0012300;Leukodystrophy, hypomyelinating, 28?0027328	https://raresource.nih.gov/literature/gene/MAL	4118	ENSG00000172005	6817	https://pubmed.ncbi.nlm.nih.gov/?term=MAL	None	None	14213	1472
MALT1	MALT1 paracaspase	Combined immunodeficiency due to MALT1 deficiency?0017647	https://raresource.nih.gov/literature/gene/MALT1	10892	ENSG00000172175	6819	https://pubmed.ncbi.nlm.nih.gov/?term=MALT1	None	None	25121	1284
MAMLD1	mastermind like domain containing 1	Posterior hypospadias?0016840;Hypospadias 2, X-linked?0018186	https://raresource.nih.gov/literature/gene/MAMLD1	10046	ENSG00000013619	2568	https://pubmed.ncbi.nlm.nih.gov/?term=MAMLD1	None	None	28300	6
MAN1B1	mannosidase alpha class 1B member 1	MAN1B1-congenital disorder of glycosylation?0012417;Autosomal recessive non-syndromic intellectual disability?0018643;Rafiq syndrome?0022550	https://raresource.nih.gov/literature/gene/MAN1B1	11253	ENSG00000177239	6823	https://pubmed.ncbi.nlm.nih.gov/?term=MAN1B1	None	None	13446	79
MAN2B1	mannosidase alpha class 2B member 1	Deficiency of alpha-mannosidase?0006968;Alpha-mannosidosis, adult form?0017408;Alpha-mannosidosis, infantile form?0017407	https://raresource.nih.gov/literature/gene/MAN2B1	4125	ENSG00000104774	6826	https://pubmed.ncbi.nlm.nih.gov/?term=MAN2B1	None	None	7680	249
MAN2B2	mannosidase alpha class 2B member 2	Congenital disorder of glycosylation type 1EE with or without immunodeficiency?0027561	https://raresource.nih.gov/literature/gene/MAN2B2	23324	ENSG00000013288	29623	https://pubmed.ncbi.nlm.nih.gov/?term=MAN2B2	None	None	22091	26
MAN2C1	mannosidase alpha class 2C member 1	Congenital disorder of deglycosylation 2?0025635	https://raresource.nih.gov/literature/gene/MAN2C1	4123	ENSG00000140400	6827	https://pubmed.ncbi.nlm.nih.gov/?term=MAN2C1	None	None	5921	146
MANBA	mannosidase beta	Beta-D-mannosidosis?0000869	https://raresource.nih.gov/literature/gene/MANBA	4126	ENSG00000109323	6831	https://pubmed.ncbi.nlm.nih.gov/?term=MANBA	None	None	47608	905
MAOA	monoamine oxidase A	Brunner syndrome?0003531	https://raresource.nih.gov/literature/gene/MAOA	4128	ENSG00000189221	6833	https://pubmed.ncbi.nlm.nih.gov/?term=MAOA	None	None	16041	5004
MAP1B	microtubule associated protein 1B	Periventricular nodular heterotopia 9?0016394;Periventricular nodular heterotopia?0012724;Autosomal dominant nonsyndromic hearing loss?0016791;Hearing loss, autosomal dominant 83?0025623	https://raresource.nih.gov/literature/gene/MAP1B	4131	ENSG00000131711	6836	https://pubmed.ncbi.nlm.nih.gov/?term=MAP1B	None	None	36913	712
MAP2K1	mitogen-activated protein kinase kinase 1	Melorheostosis?0009474;Noonan syndrome 1?0007223;Langerhans cell histiocytosis?0006858;Cardiofaciocutaneous syndrome 3?0015936;Cardio-facio-cutaneous syndrome?0009146	https://raresource.nih.gov/literature/gene/MAP2K1	5604	ENSG00000169032	6840	https://pubmed.ncbi.nlm.nih.gov/?term=MAP2K1	None	None	40161	4750
MAP2K2	mitogen-activated protein kinase kinase 2	Cardio-facio-cutaneous syndrome?0009146;Cardiofaciocutaneous syndrome 4?0015937	https://raresource.nih.gov/literature/gene/MAP2K2	5605	ENSG00000126934	6842	https://pubmed.ncbi.nlm.nih.gov/?term=MAP2K2	None	None	16219	834
MAP3K1	mitogen-activated protein kinase kinase kinase 1	Pure gonadal dysgenesis 46,XY?0005068;46,XY sex reversal 6?0015703;46,XY partial gonadal dysgenesis?0017211	https://raresource.nih.gov/literature/gene/MAP3K1	4214	ENSG00000095015	6848	https://pubmed.ncbi.nlm.nih.gov/?term=MAP3K1	None	None	34105	1297
MAP3K14	mitogen-activated protein kinase kinase kinase 14	NIK deficiency?0021864	https://raresource.nih.gov/literature/gene/MAP3K14	9020	ENSG00000006062	6853	https://pubmed.ncbi.nlm.nih.gov/?term=MAP3K14	None	None	17478	1541
MAP3K20	mitogen-activated protein kinase kinase kinase 20	Myopathy, centronuclear, 6, with fiber-type disproportion?0016250;Congenital myopathy with fiber type disproportion?0006161;Split-foot malformation-mesoaxial polydactyly syndrome?0017889	https://raresource.nih.gov/literature/gene/MAP3K20	51776	ENSG00000091436	17797	https://pubmed.ncbi.nlm.nih.gov/?term=MAP3K20	None	None	71954	3246
MAP3K3	mitogen-activated protein kinase kinase kinase 3	Cerebral cavernous malformations 5?0027335	https://raresource.nih.gov/literature/gene/MAP3K3	4215	ENSG00000198909	6855	https://pubmed.ncbi.nlm.nih.gov/?term=MAP3K3	None	None	17113	334
MAP3K7	mitogen-activated protein kinase kinase kinase 7	Cardiospondylocarpofacial syndrome?0002362;Frontometaphyseal dysplasia 2?0016199;Frontometaphyseal dysplasia?0000826	https://raresource.nih.gov/literature/gene/MAP3K7	6885	ENSG00000135341	6859	https://pubmed.ncbi.nlm.nih.gov/?term=MAP3K7	None	None	30020	2669
MAPK1	mitogen-activated protein kinase 1	Noonan syndrome 13?0016419	https://raresource.nih.gov/literature/gene/MAPK1	5594	ENSG00000100030	6871	https://pubmed.ncbi.nlm.nih.gov/?term=MAPK1	None	None	43972	92389
MAPKAPK3	MAPK activated protein kinase 3	Patterned macular dystrophy 3?0017826	https://raresource.nih.gov/literature/gene/MAPKAPK3	7867	ENSG00000114738	6888	https://pubmed.ncbi.nlm.nih.gov/?term=MAPKAPK3	None	None	13575	158
MAPKBP1	mitogen-activated protein kinase binding protein 1	Late-onset nephronophthisis?0016824;Nephronophthisis 20?0018181	https://raresource.nih.gov/literature/gene/MAPKBP1	23005	ENSG00000137802	29536	https://pubmed.ncbi.nlm.nih.gov/?term=MAPKBP1	None	None	15212	18
MAPRE2	microtubule associated protein RP/EB family member 2	Skin creases, congenital symmetric circumferential, 2?0016156;Michelin-tire baby?0003589	https://raresource.nih.gov/literature/gene/MAPRE2	10982	ENSG00000166974	6891	https://pubmed.ncbi.nlm.nih.gov/?term=MAPRE2	None	None	38589	1071
MAPT	microtubule associated protein tau	Pick disease?0024611;Supranuclear palsy, progressive, 1?0017182;Parkinson disease, late-onset?0017684;Frontotemporal dementia?0008436;Progressive supranuclear palsy-parkinsonism syndrome?0017183	https://raresource.nih.gov/literature/gene/MAPT	4137	ENSG00000186868	6893	https://pubmed.ncbi.nlm.nih.gov/?term=MAPT	None	None	36787	28822
MARCHF6	membrane associated ring-CH-type finger 6	Epilepsy, familial adult myoclonic, 3?0018084;Benign adult familial myoclonic epilepsy?0016758	https://raresource.nih.gov/literature/gene/MARCHF6	10299	ENSG00000145495	30550	https://pubmed.ncbi.nlm.nih.gov/?term=MARCHF6	None	None	34121	1498
MARS1	methionyl-tRNA synthetase 1	Charcot-Marie-Tooth disease axonal type 2U?0017638;Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency?0017746;Trichothiodystrophy 9, nonphotosensitive?0025590;Autosomal recessive spastic paraplegia type 70?0021700;Spastic paraplegia 70, autosomal recessive?0026791	https://raresource.nih.gov/literature/gene/MARS1	4141	ENSG00000166986	6898	https://pubmed.ncbi.nlm.nih.gov/?term=MARS1	None	None	13971	392
MARS2	methionyl-tRNA synthetase 2, mitochondrial	Spastic ataxia 3?0017425;Combined oxidative phosphorylation defect type 25?0017775	https://raresource.nih.gov/literature/gene/MARS2	92935	ENSG00000247626	25133	https://pubmed.ncbi.nlm.nih.gov/?term=MARS2	None	None	2751	181
MARVELD2	MARVEL domain containing 2	Autosomal recessive nonsyndromic hearing loss 49?0022619;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/MARVELD2	153562	ENSG00000152939	26401	https://pubmed.ncbi.nlm.nih.gov/?term=MARVELD2	None	None	12719	559
MASP1	MBL associated serine protease 1	3MC syndrome 1?0004049;3MC syndrome?0001118	https://raresource.nih.gov/literature/gene/MASP1	5648	ENSG00000127241	6901	https://pubmed.ncbi.nlm.nih.gov/?term=MASP1	None	None	28374	944
MASP2	MBL associated serine protease 2	Immunodeficiency due to MASP-2 deficiency?0017512	https://raresource.nih.gov/literature/gene/MASP2	10747	ENSG00000009724	6902	https://pubmed.ncbi.nlm.nih.gov/?term=MASP2	None	None	11668	1989
MAST3	microtubule associated serine/threonine kinase 3	Developmental and epileptic encephalopathy 108?0026692	https://raresource.nih.gov/literature/gene/MAST3	23031	ENSG00000099308	19036	https://pubmed.ncbi.nlm.nih.gov/?term=MAST3	None	None	16130	29
MAT1A	methionine adenosyltransferase 1A	Hepatic methionine adenosyltransferase deficiency?0008397	https://raresource.nih.gov/literature/gene/MAT1A	4143	ENSG00000151224	6903	https://pubmed.ncbi.nlm.nih.gov/?term=MAT1A	None	None	7684	1204
MATN3	matrilin 3	Multiple epiphyseal dysplasia type 5?0009794;Spondyloepimetaphyseal dysplasia, matrilin-3 type?0010611	https://raresource.nih.gov/literature/gene/MATN3	4148	ENSG00000132031	6909	https://pubmed.ncbi.nlm.nih.gov/?term=MATN3	None	None	8543	240
MATR3	matrin 3	Distal myopathy with vocal cord weakness?0001887;Amyotrophic lateral sclerosis type 21?0018619;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/MATR3	9782	ENSG00000015479	6912	https://pubmed.ncbi.nlm.nih.gov/?term=MATR3	None	None	26622	220
MAX	MYC associated factor X	Pheochromocytoma?0015105	https://raresource.nih.gov/literature/gene/MAX	4149	ENSG00000125952	6913	https://pubmed.ncbi.nlm.nih.gov/?term=MAX	None	None	13951	2375
MB	myoglobin	Myopathy, sarcoplasmic body?0026741	https://raresource.nih.gov/literature/gene/MB	4151	ENSG00000198125	6915	https://pubmed.ncbi.nlm.nih.gov/?term=MB	None	None	5092	22050
MBD4	methyl-CpG binding domain 4, DNA glycosylase	Tumor predisposition syndrome 2?0026684	https://raresource.nih.gov/literature/gene/MBD4	8930	ENSG00000129071	6919	https://pubmed.ncbi.nlm.nih.gov/?term=MBD4	None	None	3518	654
MBD5	methyl-CpG binding domain protein 5	Intellectual disability, autosomal dominant 1?0018623;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/MBD5	55777	ENSG00000204406	20444	https://pubmed.ncbi.nlm.nih.gov/?term=MBD5	None	None	180672	140
MBL2	mannose binding lectin 2	Mannose-binding lectin deficiency?0024941	https://raresource.nih.gov/literature/gene/MBL2	4153	ENSG00000165471	6922	https://pubmed.ncbi.nlm.nih.gov/?term=MBL2	None	None	2876	12355
MBOAT7	membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7	Intellectual disability, autosomal recessive 57?0022575;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/MBOAT7	79143	ENSG00000125505	15505	https://pubmed.ncbi.nlm.nih.gov/?term=MBOAT7	None	None	7303	353
MBTPS1	membrane bound transcription factor peptidase, site 1	Spondyloepiphyseal dysplasia, kondo-fu type?0025729	https://raresource.nih.gov/literature/gene/MBTPS1	8720	ENSG00000140943	15456	https://pubmed.ncbi.nlm.nih.gov/?term=MBTPS1	None	None	22728	1566
MBTPS2	membrane bound transcription factor peptidase, site 2	IFAP syndrome 1, with or without BRESHECK syndrome?0015297;BRESEK syndrome?0016746;Osteogenesis imperfecta, type 19?0025944;Olmsted syndrome, X-linked?0015273;Keratosis follicularis spinulosa decalvans, X-linked?0015299;Olmsted syndrome?0004075;Keratosis follicularis spinulosa decalvans?0006829	https://raresource.nih.gov/literature/gene/MBTPS2	51360	ENSG00000012174	15455	https://pubmed.ncbi.nlm.nih.gov/?term=MBTPS2	None	None	8836	229
MC2R	melanocortin 2 receptor	Glucocorticoid deficiency 1?0025418;Familial glucocorticoid deficiency?0002498	https://raresource.nih.gov/literature/gene/MC2R	4158	ENSG00000185231	6930	https://pubmed.ncbi.nlm.nih.gov/?term=MC2R	None	None	10275	804
MC4R	melanocortin 4 receptor	Obesity due to melanocortin 4 receptor deficiency?0016690	https://raresource.nih.gov/literature/gene/MC4R	4160	ENSG00000166603	6932	https://pubmed.ncbi.nlm.nih.gov/?term=MC4R	None	None	1810	2770
MCAT	malonyl-CoA-acyl carrier protein transacylase	Optic atrophy 15?0026895	https://raresource.nih.gov/literature/gene/MCAT	27349	ENSG00000100294	29622	https://pubmed.ncbi.nlm.nih.gov/?term=MCAT	None	None	5722	7514
MCCC1	methylcrotonyl-CoA carboxylase subunit 1	Methylcrotonyl-CoA carboxylase deficiency?0010954;3-methylcrotonyl-CoA carboxylase 1 deficiency?0005665	https://raresource.nih.gov/literature/gene/MCCC1	56922	ENSG00000078070	6936	https://pubmed.ncbi.nlm.nih.gov/?term=MCCC1	None	None	38277	131
MCCC2	methylcrotonyl-CoA carboxylase subunit 2	Methylcrotonyl-CoA carboxylase deficiency?0010954;3-methylcrotonyl-CoA carboxylase 2 deficiency?0009151	https://raresource.nih.gov/literature/gene/MCCC2	64087	ENSG00000131844	6937	https://pubmed.ncbi.nlm.nih.gov/?term=MCCC2	None	None	28948	294
MCEE	methylmalonyl-CoA epimerase	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency?0017390	https://raresource.nih.gov/literature/gene/MCEE	84693	ENSG00000124370	16732	https://pubmed.ncbi.nlm.nih.gov/?term=MCEE	None	None	8399	137
MCFD2	multiple coagulation factor deficiency 2, ER cargo receptor complex subunit	Factor 5 and Factor VIII, combined deficiency of, 2?0018632;Combined deficiency of factor V and factor VIII?0016639	https://raresource.nih.gov/literature/gene/MCFD2	90411	ENSG00000180398	18451	https://pubmed.ncbi.nlm.nih.gov/?term=MCFD2	None	None	7311	88
MCIDAS	multiciliate differentiation and DNA synthesis associated cell cycle protein	Primary ciliary dyskinesia?0004484;Ciliary dyskinesia, primary, 42?0016373	https://raresource.nih.gov/literature/gene/MCIDAS	345643	ENSG00000234602	40050	https://pubmed.ncbi.nlm.nih.gov/?term=MCIDAS	None	None	4157	102
MCM2	minichromosome maintenance complex component 2	Autosomal dominant nonsyndromic hearing loss?0016791;Autosomal dominant nonsyndromic hearing loss 70?0018145	https://raresource.nih.gov/literature/gene/MCM2	4171	ENSG00000073111	6944	https://pubmed.ncbi.nlm.nih.gov/?term=MCM2	None	None	10143	1535
MCM4	minichromosome maintenance complex component 4	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency?0016695	https://raresource.nih.gov/literature/gene/MCM4	4173	ENSG00000104738	6947	https://pubmed.ncbi.nlm.nih.gov/?term=MCM4	None	None	8273	459
MCM5	minichromosome maintenance complex component 5	Meier-Gorlin syndrome 8?0025784	https://raresource.nih.gov/literature/gene/MCM5	4174	ENSG00000100297	6948	https://pubmed.ncbi.nlm.nih.gov/?term=MCM5	None	None	8407	371
MCM7	minichromosome maintenance complex component 7	Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/MCM7	4176	ENSG00000166508	6950	https://pubmed.ncbi.nlm.nih.gov/?term=MCM7	None	None	4669	1359
MCM8	minichromosome maintenance 8 homologous recombination repair factor	Premature ovarian failure 10?0025908	https://raresource.nih.gov/literature/gene/MCM8	84515	ENSG00000125885	16147	https://pubmed.ncbi.nlm.nih.gov/?term=MCM8	None	None	175	138
MCM9	minichromosome maintenance 9 homologous recombination repair factor	46,XX ovarian dysgenesis-short stature syndrome?0017760	https://raresource.nih.gov/literature/gene/MCM9	254394	ENSG00000111877	21484	https://pubmed.ncbi.nlm.nih.gov/?term=MCM9	None	None	49969	84
MCOLN1	mucolipin TRP cation channel 1	Mucolipidosis type IV?0000094;Lisch epithelial corneal dystrophy?0016877	https://raresource.nih.gov/literature/gene/MCOLN1	57192	ENSG00000090674	13356	https://pubmed.ncbi.nlm.nih.gov/?term=MCOLN1	None	None	4016	620
MCPH1	microcephalin 1	Microcephaly 1, primary, autosomal recessive?0015198;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/MCPH1	79648	ENSG00000147316	6954	https://pubmed.ncbi.nlm.nih.gov/?term=MCPH1	None	None	129726	868
MCTP2	multiple C2 and transmembrane domain containing 2	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/MCTP2	55784	ENSG00000140563	25636	https://pubmed.ncbi.nlm.nih.gov/?term=MCTP2	None	None	94275	40
MDFIC	MyoD family inhibitor domain containing	Lymphatic malformation 12?0025681	https://raresource.nih.gov/literature/gene/MDFIC	29969	ENSG00000135272	28870	https://pubmed.ncbi.nlm.nih.gov/?term=MDFIC	None	None	32485	115
MDH1	malate dehydrogenase 1	Developmental and epileptic encephalopathy, 88?0016398	https://raresource.nih.gov/literature/gene/MDH1	4190	ENSG00000014641	6970	https://pubmed.ncbi.nlm.nih.gov/?term=MDH1	None	None	5951	762
MDH2	malate dehydrogenase 2	Developmental and epileptic encephalopathy, 51?0025055	https://raresource.nih.gov/literature/gene/MDH2	4191	ENSG00000146701	6971	https://pubmed.ncbi.nlm.nih.gov/?term=MDH2	None	None	8463	2303
MDM4	MDM4 regulator of p53	Bone marrow failure syndrome 6?0025508	https://raresource.nih.gov/literature/gene/MDM4	4194	ENSG00000198625	6974	https://pubmed.ncbi.nlm.nih.gov/?term=MDM4	None	None	10850	4021
MECOM	MDS1 and EVI1 complex locus	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2?0018069;Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome?0016687	https://raresource.nih.gov/literature/gene/MECOM	2122	ENSG00000085276	3498	https://pubmed.ncbi.nlm.nih.gov/?term=MECOM	None	None	217877	852
MECP2	methyl-CpG binding protein 2	Non-syndromic X-linked intellectual disability?0018640;Rett syndrome?0005696;Atypical Rett syndrome?0004694;Syndromic X-linked intellectual disability Lubs type?0009781;Severe neonatal-onset encephalopathy with microcephaly?0017103;X-linked intellectual disability-psychosis-macroorchidism syndrome?0003506	https://raresource.nih.gov/literature/gene/MECP2	4204	ENSG00000169057	6990	https://pubmed.ncbi.nlm.nih.gov/?term=MECP2	None	None	23873	4240
MECR	mitochondrial trans-2-enoyl-CoA reductase	Optic atrophy 16?0026899;Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities?0013488	https://raresource.nih.gov/literature/gene/MECR	51102	ENSG00000116353	19691	https://pubmed.ncbi.nlm.nih.gov/?term=MECR	None	None	15102	336
MED11	mediator complex subunit 11	Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities?0026793	https://raresource.nih.gov/literature/gene/MED11	400569	ENSG00000161920	32687	https://pubmed.ncbi.nlm.nih.gov/?term=MED11	None	None	1359	12
MED12	mediator complex subunit 12	MED12-related intellectual disability syndrome?0026013;Cholestasis-pigmentary retinopathy-cleft palate syndrome?0009280;FG syndrome 1?0002317;X-linked intellectual disability with marfanoid habitus?0003307;Blepharophimosis - intellectual disability syndrome, MKB type?0017341	https://raresource.nih.gov/literature/gene/MED12	9968	ENSG00000184634	11957	https://pubmed.ncbi.nlm.nih.gov/?term=MED12	None	None	6149	2731
MED12L	mediator complex subunit 12L	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/MED12L	116931	ENSG00000144893	16050	https://pubmed.ncbi.nlm.nih.gov/?term=MED12L	None	None	130524	33
MED13	mediator complex subunit 13	Intellectual developmental disorder 61?0018514	https://raresource.nih.gov/literature/gene/MED13	9969	ENSG00000108510	22474	https://pubmed.ncbi.nlm.nih.gov/?term=MED13	None	None	49545	173
MED13L	mediator complex subunit 13L	Tetralogy of Fallot?0002245;Cardiac anomalies - developmental delay - facial dysmorphism syndrome?0017588	https://raresource.nih.gov/literature/gene/MED13L	23389	ENSG00000123066	22962	https://pubmed.ncbi.nlm.nih.gov/?term=MED13L	None	None	81516	100
MED17	mediator complex subunit 17	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly?0010995	https://raresource.nih.gov/literature/gene/MED17	9440	ENSG00000042429	2375	https://pubmed.ncbi.nlm.nih.gov/?term=MED17	None	None	1289	85
MED23	mediator complex subunit 23	Intellectual disability, autosomal recessive 18?0022552;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/MED23	9439	ENSG00000112282	2372	https://pubmed.ncbi.nlm.nih.gov/?term=MED23	None	None	19372	414
MED25	mediator complex subunit 25	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome?0017821;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/MED25	81857	ENSG00000104973	28845	https://pubmed.ncbi.nlm.nih.gov/?term=MED25	None	None	7748	212
MEF2C	myocyte enhancer factor 2C	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language?0024910;Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation?0027213	https://raresource.nih.gov/literature/gene/MEF2C	4208	ENSG00000081189	6996	https://pubmed.ncbi.nlm.nih.gov/?term=MEF2C	None	None	71739	1704
MEFV	MEFV innate immunity regulator, pyrin	Familial Mediterranean fever?0006421;Acute febrile neutrophilic dermatosis?0000521;Autosomal recessive familial Mediterranean fever?0024682;Familial Mediterranean fever, autosomal dominant?0015069	https://raresource.nih.gov/literature/gene/MEFV	4210	ENSG00000103313	6998	https://pubmed.ncbi.nlm.nih.gov/?term=MEFV	None	None	7083	1986
MEGF10	multiple EGF like domains 10	Congenital myopathy 10b, mild variant?0026731;MEGF10-related myopathy?0012199	https://raresource.nih.gov/literature/gene/MEGF10	84466	ENSG00000145794	29634	https://pubmed.ncbi.nlm.nih.gov/?term=MEGF10	None	None	61453	127
MEGF8	multiple EGF like domains 8	Carpenter syndrome?0006003;MEGF8-related Carpenter syndrome?0015889	https://raresource.nih.gov/literature/gene/MEGF8	1954	ENSG00000105429	3233	https://pubmed.ncbi.nlm.nih.gov/?term=MEGF8	None	None	16118	166
MEI1	meiotic double-stranded break formation protein 1	Complete hydatidiform mole?0017224;Hydatidiform mole, recurrent, 3?0018367	https://raresource.nih.gov/literature/gene/MEI1	150365	ENSG00000167077	28613	https://pubmed.ncbi.nlm.nih.gov/?term=MEI1	None	None	38366	45
MEIOB	meiosis specific with OB-fold	Spermatogenic failure 22?0016245;Premature ovarian failure 23?0026916	https://raresource.nih.gov/literature/gene/MEIOB	254528	ENSG00000162039	28569	https://pubmed.ncbi.nlm.nih.gov/?term=MEIOB	None	None	20625	38
MEIS2	Meis homeobox 2	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies?0013480	https://raresource.nih.gov/literature/gene/MEIS2	4212	ENSG00000134138	7001	https://pubmed.ncbi.nlm.nih.gov/?term=MEIS2	None	None	69871	309
MEN1	menin 1	Familial isolated hyperparathyroidism?0016923;Multiple endocrine neoplasia, type 1?0003829;Gigantism?0006506	https://raresource.nih.gov/literature/gene/MEN1	4221	ENSG00000133895	7010	https://pubmed.ncbi.nlm.nih.gov/?term=MEN1	None	None	6172	2376
MEOX1	mesenchyme homeobox 1	Klippel-Feil syndrome 2, autosomal recessive?0015151;Klippel-Feil syndrome?0010280	https://raresource.nih.gov/literature/gene/MEOX1	4222	ENSG00000005102	7013	https://pubmed.ncbi.nlm.nih.gov/?term=MEOX1	None	None	7961	14
MERTK	MER proto-oncogene, tyrosine kinase	MERTK-related retinopathy?0026544;Retinitis pigmentosa 38?0015725	https://raresource.nih.gov/literature/gene/MERTK	10461	ENSG00000153208	7027	https://pubmed.ncbi.nlm.nih.gov/?term=MERTK	None	None	54000	1919
MESD	mesoderm development LRP chaperone	Osteogenesis imperfecta, type 20?0025758	https://raresource.nih.gov/literature/gene/MESD	23184	ENSG00000117899	13520	https://pubmed.ncbi.nlm.nih.gov/?term=MESD	None	None	14567	59
MESP2	mesoderm posterior bHLH transcription factor 2	Spondylocostal dysostosis 1, autosomal recessive?0010726;Autosomal recessive spondylocostal dysostosis?0006798;Spondylocostal dysostosis 2, autosomal recessive?0009703	https://raresource.nih.gov/literature/gene/MESP2	145873	ENSG00000188095	29659	https://pubmed.ncbi.nlm.nih.gov/?term=MESP2	None	None	7351	101
MET	MET proto-oncogene, receptor tyrosine kinase	Hearing loss, autosomal recessive?0018117;Hereditary papillary renal cell carcinoma?0013157;Arthrogryposis, distal, IIa 11?0025683;Pediatric hepatocellular carcinoma?0009331;Autosomal recessive nonsyndromic hearing loss 97?0022655;Papillary renal cell carcinoma?0009572;Osteofibrous dysplasia?0010887;Hepatocellular carcinoma?0016773	https://raresource.nih.gov/literature/gene/MET	4233	ENSG00000105976	7029	https://pubmed.ncbi.nlm.nih.gov/?term=MET	None	None	49208	19991
METTL23	methyltransferase 23, arginine	Autosomal recessive non-syndromic intellectual disability?0018643;Intellectual disability, autosomal recessive 44?0022566	https://raresource.nih.gov/literature/gene/METTL23	124512	ENSG00000181038	26988	https://pubmed.ncbi.nlm.nih.gov/?term=METTL23	None	None	2538	18
METTL5	methyltransferase 5, N6-adenosine	Intellectual developmental disorder, autosomal recessive 72?0025761;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/METTL5	29081	ENSG00000138382	25006	https://pubmed.ncbi.nlm.nih.gov/?term=METTL5	None	None	5433	85
MFAP5	microfibril associated protein 5	Familial thoracic aortic aneurysm and aortic dissection?0002249;Ehlers-Danlos syndrome, type 4?0002082;Aortic aneurysm, familial thoracic 9?0016067	https://raresource.nih.gov/literature/gene/MFAP5	8076	ENSG00000197614	29673	https://pubmed.ncbi.nlm.nih.gov/?term=MFAP5	None	None	5584	154
MFF	mitochondrial fission factor	Encephalopathy due to defective mitochondrial and peroxisomal fission 2?0017881	https://raresource.nih.gov/literature/gene/MFF	56947	ENSG00000168958	24858	https://pubmed.ncbi.nlm.nih.gov/?term=MFF	None	None	13987	438
MFN2	mitofusin 2	Charcot-Marie-Tooth disease type 2A2?0016925;Multiple symmetric lipomatosis?0006957;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;?0025032;Neuropathy, hereditary motor and sensory, type 6A?0018091;Charcot-Marie-Tooth disease type 5?0009208;Hereditary motor and sensory neuropathy with optic atrophy?0016787;Severe early-onset axonal neuropathy due to MFN2 deficiency?0019123	https://raresource.nih.gov/literature/gene/MFN2	9927	ENSG00000116688	16877	https://pubmed.ncbi.nlm.nih.gov/?term=MFN2	None	None	15764	2913
MFRP	membrane frizzled-related protein	Isolated microphthalmia 5?0017205;Nanophthalmia?0016637;Nanophthalmos 2?0018626	https://raresource.nih.gov/literature/gene/MFRP	83552	ENSG00000235718	18121	https://pubmed.ncbi.nlm.nih.gov/?term=MFRP	None	None	3477	178
MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	Microcephaly 15, primary, autosomal recessive?0016123;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/MFSD2A	84879	ENSG00000168389	25897	https://pubmed.ncbi.nlm.nih.gov/?term=MFSD2A	None	None	7491	218
MFSD8	major facilitator superfamily domain containing 8	Macular dystrophy with central cone involvement?0024996;Neuronal ceroid lipofuscinosis 7?0001220	https://raresource.nih.gov/literature/gene/MFSD8	256471	ENSG00000164073	28486	https://pubmed.ncbi.nlm.nih.gov/?term=MFSD8	None	None	19320	133
MGA	MAX dimerization protein MGA	Premature ovarian failure 26?0027426	https://raresource.nih.gov/literature/gene/MGA	23269	ENSG00000174197	14010	https://pubmed.ncbi.nlm.nih.gov/?term=MGA	None	None	42011	309
MGAT2	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	MGAT2-congenital disorder of glycosylation?0009828	https://raresource.nih.gov/literature/gene/MGAT2	4247	ENSG00000168282	7045	https://pubmed.ncbi.nlm.nih.gov/?term=MGAT2	None	None	1161	163
MGME1	mitochondrial genome maintenance exonuclease 1	Mitochondrial DNA depletion syndrome 11?0017517	https://raresource.nih.gov/literature/gene/MGME1	92667	ENSG00000125871	16205	https://pubmed.ncbi.nlm.nih.gov/?term=MGME1	None	None	7012	66
MGP	matrix Gla protein	Keutel syndrome?0008449	https://raresource.nih.gov/literature/gene/MGP	4256	ENSG00000111341	7060	https://pubmed.ncbi.nlm.nih.gov/?term=MGP	None	None	1381	1283
MIA3	MIA SH3 domain ER export factor 3	Odontochondrodysplasia 2 with hearing loss and diabetes?0025674	https://raresource.nih.gov/literature/gene/MIA3	375056	ENSG00000154305	24008	https://pubmed.ncbi.nlm.nih.gov/?term=MIA3	None	None	10079	1552
MIB1	MIB E3 ubiquitin protein ligase 1	Left ventricular noncompaction?0010985;Left ventricular noncompaction 7?0015906	https://raresource.nih.gov/literature/gene/MIB1	57534	ENSG00000101752	21086	https://pubmed.ncbi.nlm.nih.gov/?term=MIB1	None	None	41054	1212
MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	Epilepsy, familial temporal lobe, 1?0026356	https://raresource.nih.gov/literature/gene/MICAL1	64780	ENSG00000135596	20619	https://pubmed.ncbi.nlm.nih.gov/?term=MICAL1	None	None	8890	135
MICOS13	mitochondrial contact site and cristae organizing system subunit 13	Combined oxidative phosphorylation deficiency 37?0025720	https://raresource.nih.gov/literature/gene/MICOS13	125988	ENSG00000174917	33702	https://pubmed.ncbi.nlm.nih.gov/?term=MICOS13	None	None	985	37
MICU1	mitochondrial calcium uptake 1	Proximal myopathy with extrapyramidal signs?0012978	https://raresource.nih.gov/literature/gene/MICU1	10367	ENSG00000107745	1530	https://pubmed.ncbi.nlm.nih.gov/?term=MICU1	None	None	95479	300
MID1	midline 1	Opitz G/BBB syndrome?0000193;X-linked Opitz G/BBB syndrome?0024713	https://raresource.nih.gov/literature/gene/MID1	4281	ENSG00000101871	7095	https://pubmed.ncbi.nlm.nih.gov/?term=MID1	None	None	64731	1742
MID2	midline 2	Non-syndromic X-linked intellectual disability?0018640;Intellectual disability, X-linked 101?0022694	https://raresource.nih.gov/literature/gene/MID2	11043	ENSG00000080561	7096	https://pubmed.ncbi.nlm.nih.gov/?term=MID2	None	None	15566	123
MIEF1	mitochondrial elongation factor 1	Optic atrophy 14?0026882	https://raresource.nih.gov/literature/gene/MIEF1	54471	ENSG00000100335	25979	https://pubmed.ncbi.nlm.nih.gov/?term=MIEF1	None	None	5760	97
MIF	macrophage migration inhibitory factor	Systemic-onset juvenile idiopathic arthritis?0010966	https://raresource.nih.gov/literature/gene/MIF	4282	ENSG00000240972	7097	https://pubmed.ncbi.nlm.nih.gov/?term=MIF	None	None	1652	6563
MINAR2	membrane integral NOTCH2 associated receptor 2	Hearing loss, autosomal recessive?0018117;Hearing loss, autosomal recessive 120?0026723	https://raresource.nih.gov/literature/gene/MINAR2	100127206	ENSG00000186367	33914	https://pubmed.ncbi.nlm.nih.gov/?term=MINAR2	None	None	8133	7
MINPP1	multiple inositol-polyphosphate phosphatase 1	Thyroid cancer, nonmedullary, 2?0005206;Pontocerebellar hypoplasia, type 16?0025561	https://raresource.nih.gov/literature/gene/MINPP1	9562	ENSG00000107789	7102	https://pubmed.ncbi.nlm.nih.gov/?term=MINPP1	None	None	17439	77
MIP	major intrinsic protein of lens fiber	Congenital total cataract?0001159;Early-onset lamellar cataract?0013155;Cataract 15 multiple types?0024971;Posterior subcapsular cataract?0016889;Early-onset sutural cataract?0016885;Congenital blue dot cataract?0009508;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/MIP	4284	ENSG00000135517	7103	https://pubmed.ncbi.nlm.nih.gov/?term=MIP	None	None	1822	11491
MIPEP	mitochondrial intermediate peptidase	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome?0017865	https://raresource.nih.gov/literature/gene/MIPEP	4285	ENSG00000027001	7104	https://pubmed.ncbi.nlm.nih.gov/?term=MIPEP	None	None	37194	964
MIR140	microRNA 140	MIR140-related spondyloepiphyseal dysplasia?0022495;Spondyloepiphyseal dysplasia, nishimura type?0025756	https://raresource.nih.gov/literature/gene/MIR140	406932	ENSG00000208017	31527	https://pubmed.ncbi.nlm.nih.gov/?term=MIR140	None	None	None	388
MIR17HG	miR-17-92a-1 cluster host gene	Feingold syndrome type 2?0017625	https://raresource.nih.gov/literature/gene/MIR17HG	407975	ENSG00000215417	23564	https://pubmed.ncbi.nlm.nih.gov/?term=MIR17HG	None	None	3402	550
MIR184	microRNA 184	EDICT syndrome?0017349	https://raresource.nih.gov/literature/gene/MIR184	406960	ENSG00000207695	31555	https://pubmed.ncbi.nlm.nih.gov/?term=MIR184	None	None	None	379
MIR204	microRNA 204	Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome?0017888	https://raresource.nih.gov/literature/gene/MIR204	406987	ENSG00000207935	31582	https://pubmed.ncbi.nlm.nih.gov/?term=MIR204	None	None	None	657
MIR96	microRNA 96	Autosomal dominant nonsyndromic hearing loss 50?0018132;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/MIR96	407053	ENSG00000199158	31648	https://pubmed.ncbi.nlm.nih.gov/?term=MIR96	None	None	1354	472
MITF	melanocyte inducing transcription factor	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness?0018021;Tietz syndrome?0007772;Waardenburg syndrome type 2?0005520;Waardenburg-Shah syndrome?0005524;Waardenburg syndrome type 2A?0005521	https://raresource.nih.gov/literature/gene/MITF	4286	ENSG00000187098	7105	https://pubmed.ncbi.nlm.nih.gov/?term=MITF	None	None	95525	4113
MKKS	MKKS centrosomal shuttling protein	McKusick-Kaufman syndrome?0003427;MKKS-related ciliopathy?0027252;Bardet-Biedl syndrome?0006866;Bardet-Biedl syndrome 6?0010205	https://raresource.nih.gov/literature/gene/MKKS	8195	ENSG00000125863	7108	https://pubmed.ncbi.nlm.nih.gov/?term=MKKS	None	None	11531	304
MKRN3	makorin ring finger protein 3	Precocious puberty, central, 2?0024975;Genetic central precocious puberty in male?0027086;Prader-Willi syndrome?0005575;Genetic central precocious puberty in female?0027028	https://raresource.nih.gov/literature/gene/MKRN3	7681	ENSG00000179455	7114	https://pubmed.ncbi.nlm.nih.gov/?term=MKRN3	None	None	17842	246
MKS1	MKS transition zone complex subunit 1	MKS1-related ciliopathy?0027581;Bardet-Biedl syndrome 13?0016037;Bardet-Biedl syndrome?0006866;Meckel syndrome, type 1?0024681;Joubert syndrome 28?0016195;Joubert syndrome?0006802;Meckel-Gruber syndrome?0003436;Joubert syndrome with ocular defect?0010168	https://raresource.nih.gov/literature/gene/MKS1	54903	ENSG00000011143	7121	https://pubmed.ncbi.nlm.nih.gov/?term=MKS1	None	None	3740	219
MLC1	modulator of VRAC current 1	Megalencephalic leukoencephalopathy with subcortical cysts 1?0025430;Megalencephalic leukoencephalopathy with subcortical cysts?0003445	https://raresource.nih.gov/literature/gene/MLC1	23209	ENSG00000100427	17082	https://pubmed.ncbi.nlm.nih.gov/?term=MLC1	None	None	10830	2388
MLH1	mutL homolog 1	Colorectal cancer, hereditary nonpolyposis, type 2?0015457;Muir-Torré syndrome?0006821;Mismatch repair cancer syndrome 1?0000420	https://raresource.nih.gov/literature/gene/MLH1	4292	ENSG00000076242	7127	https://pubmed.ncbi.nlm.nih.gov/?term=MLH1	None	None	30207	7118
MLH3	mutL homolog 3	Colorectal cancer, hereditary nonpolyposis, type 7?0015799	https://raresource.nih.gov/literature/gene/MLH3	27030	ENSG00000119684	7128	https://pubmed.ncbi.nlm.nih.gov/?term=MLH3	None	None	13960	268
MLLT10	MLLT10 histone lysine methyltransferase DOT1L cofactor	Acute myeloid leukemia?0012757	https://raresource.nih.gov/literature/gene/MLLT10	8028	ENSG00000078403	16063	https://pubmed.ncbi.nlm.nih.gov/?term=MLLT10	None	None	91324	294
MLPH	melanophilin	Griscelli syndrome type 3?0009715	https://raresource.nih.gov/literature/gene/MLPH	79083	ENSG00000115648	29643	https://pubmed.ncbi.nlm.nih.gov/?term=MLPH	None	None	31234	238
MLXIPL	MLX interacting protein like	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/MLXIPL	51085	ENSG00000009950	12744	https://pubmed.ncbi.nlm.nih.gov/?term=MLXIPL	None	None	15861	1079
MLYCD	malonyl-CoA decarboxylase	Deficiency of malonyl-CoA decarboxylase?0003371	https://raresource.nih.gov/literature/gene/MLYCD	23417	ENSG00000103150	7150	https://pubmed.ncbi.nlm.nih.gov/?term=MLYCD	None	None	13338	311
MMAA	metabolism of cobalamin associated A	Methylmalonic aciduria, cblA type?0005500	https://raresource.nih.gov/literature/gene/MMAA	166785	ENSG00000151611	18871	https://pubmed.ncbi.nlm.nih.gov/?term=MMAA	None	None	22438	165
MMAB	metabolism of cobalamin associated B	Methylmalonic aciduria, cblB type?0009479	https://raresource.nih.gov/literature/gene/MMAB	326625	ENSG00000139428	19331	https://pubmed.ncbi.nlm.nih.gov/?term=MMAB	None	None	6188	5605
MMACHC	metabolism of cobalamin associated C	Cobalamin C disease?0012128	https://raresource.nih.gov/literature/gene/MMACHC	25974	ENSG00000132763	24525	https://pubmed.ncbi.nlm.nih.gov/?term=MMACHC	None	None	4981	413
MMADHC	metabolism of cobalamin associated D	Methylcobalamin deficiency type cblDv1?0017385;Isolated methylmalonic aciduria cblD type?0027385;Homocystinuria-megaloblastic anemia cblD type?0027384;Methylmalonic aciduria and homocystinuria type cblD?0003582;Vitamin B12-responsive methylmalonic acidemia, type cblDv2?0017391	https://raresource.nih.gov/literature/gene/MMADHC	27249	ENSG00000168288	25221	https://pubmed.ncbi.nlm.nih.gov/?term=MMADHC	None	None	8293	80
MME	membrane metalloendopeptidase	Charcot-Marie-Tooth disease axonal type 2T?0018653;Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization?0018896;MME-related autosomal dominant Charcot Marie Tooth disease type 2?0017916;Spinocerebellar ataxia 43?0017917;Charcot-Marie-Tooth disease type 2T?0017909	https://raresource.nih.gov/literature/gene/MME	4311	ENSG00000196549	7154	https://pubmed.ncbi.nlm.nih.gov/?term=MME	None	None	63769	10730
MMP13	matrix metallopeptidase 13	Spondyloepimetaphyseal dysplasia, Missouri type?0010618;Metaphyseal anadysplasia?0003562;Metaphyseal chondrodysplasia, Spahr type?0003563	https://raresource.nih.gov/literature/gene/MMP13	4322	ENSG00000137745	7159	https://pubmed.ncbi.nlm.nih.gov/?term=MMP13	None	None	4264	6881
MMP14	matrix metallopeptidase 14	Winchester syndrome?0007894;Multicentric osteolysis nodulosis arthropathy spectrum?0017610	https://raresource.nih.gov/literature/gene/MMP14	4323	ENSG00000157227	7160	https://pubmed.ncbi.nlm.nih.gov/?term=MMP14	None	None	4606	4100
MMP19	matrix metallopeptidase 19	Familial cavitary optic disk anomaly?0017822	https://raresource.nih.gov/literature/gene/MMP19	4327	ENSG00000123342	7165	https://pubmed.ncbi.nlm.nih.gov/?term=MMP19	None	None	3417	243
MMP2	matrix metallopeptidase 2	Multicentric osteolysis nodulosis arthropathy spectrum?0017610;Multicentric osteolysis, nodulosis, and arthropathy?0013743	https://raresource.nih.gov/literature/gene/MMP2	4313	ENSG00000087245	7166	https://pubmed.ncbi.nlm.nih.gov/?term=MMP2	None	None	39835	26752
MMP20	matrix metallopeptidase 20	Amelogenesis imperfecta type 2?0008349;Amelogenesis imperfecta hypomaturation type 2A2?0015563	https://raresource.nih.gov/literature/gene/MMP20	9313	ENSG00000137674	7167	https://pubmed.ncbi.nlm.nih.gov/?term=MMP20	None	None	12852	327
MMP21	matrix metallopeptidase 21	Situs inversus?0004883;Tetralogy of Fallot?0002245;Heterotaxy, visceral, 7, autosomal?0025014	https://raresource.nih.gov/literature/gene/MMP21	118856	ENSG00000154485	14357	https://pubmed.ncbi.nlm.nih.gov/?term=MMP21	None	None	4550	59
MMP9	matrix metallopeptidase 9	Metaphyseal anadysplasia 2?0015610;Metaphyseal anadysplasia?0003562	https://raresource.nih.gov/literature/gene/MMP9	4318	ENSG00000100985	7176	https://pubmed.ncbi.nlm.nih.gov/?term=MMP9	None	None	4016	39660
MMUT	methylmalonyl-CoA mutase	Vitamin B12-unresponsive methylmalonic acidemia type mut-?0016714;Vitamin B12-unresponsive methylmalonic acidemia type mut0?0017335;Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency?0003586	https://raresource.nih.gov/literature/gene/MMUT	4594	ENSG00000146085	7526	https://pubmed.ncbi.nlm.nih.gov/?term=MMUT	None	None	13250	1718
MN1	MN1 proto-oncogene, transcriptional regulator	Familial meningioma?0018385	https://raresource.nih.gov/literature/gene/MN1	4330	ENSG00000169184	7180	https://pubmed.ncbi.nlm.nih.gov/?term=MN1	None	None	18584	295
MNS1	meiosis specific nuclear structural 1	Heterotaxy, visceral, 9, autosomal, with male infertility?0025522	https://raresource.nih.gov/literature/gene/MNS1	55329	ENSG00000138587	29636	https://pubmed.ncbi.nlm.nih.gov/?term=MNS1	None	None	11093	64
MNX1	motor neuron and pancreas homeobox 1	Currarino triad?0001626	https://raresource.nih.gov/literature/gene/MNX1	3110	ENSG00000130675	4979	https://pubmed.ncbi.nlm.nih.gov/?term=MNX1	None	None	8077	443
MOCOS	molybdenum cofactor sulfurase	Xanthinuria type II?0005620	https://raresource.nih.gov/literature/gene/MOCOS	55034	ENSG00000075643	18234	https://pubmed.ncbi.nlm.nih.gov/?term=MOCOS	None	None	23262	704
MOCS1	molybdenum cofactor synthesis 1	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A?0017386	https://raresource.nih.gov/literature/gene/MOCS1	4337	ENSG00000124615	7190	https://pubmed.ncbi.nlm.nih.gov/?term=MOCS1	None	None	12953	77
MOCS2	molybdenum cofactor synthesis 2	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B?0017387	https://raresource.nih.gov/literature/gene/MOCS2	4338	ENSG00000164172	7193	https://pubmed.ncbi.nlm.nih.gov/?term=MOCS2	None	None	6030	59
MOG	myelin oligodendrocyte glycoprotein	Narcolepsy 7?0015783	https://raresource.nih.gov/literature/gene/MOG	4340	ENSG00000204655	7197	https://pubmed.ncbi.nlm.nih.gov/?term=MOG	None	None	6681	4066
MOGS	mannosyl-oligosaccharide glucosidase	MOGS-congenital disorder of glycosylation?0010767	https://raresource.nih.gov/literature/gene/MOGS	7841	ENSG00000115275	24862	https://pubmed.ncbi.nlm.nih.gov/?term=MOGS	None	None	3416	285
MORC2	MORC family CW-type zinc finger 2	Charcot-Marie-Tooth disease axonal type 2Z?0017829	https://raresource.nih.gov/literature/gene/MORC2	22880	ENSG00000133422	23573	https://pubmed.ncbi.nlm.nih.gov/?term=MORC2	None	None	11822	121
MPC1	mitochondrial pyruvate carrier 1	Mitochondrial pyruvate carrier deficiency?0017771	https://raresource.nih.gov/literature/gene/MPC1	51660	ENSG00000060762	21606	https://pubmed.ncbi.nlm.nih.gov/?term=MPC1	None	None	7753	237
MPDU1	mannose-P-dolichol utilization defect 1	MPDU1-congenital disorder of glycosylation?0009832	https://raresource.nih.gov/literature/gene/MPDU1	9526	ENSG00000129255	7207	https://pubmed.ncbi.nlm.nih.gov/?term=MPDU1	None	None	2472	35
MPDZ	multiple PDZ domain crumbs cell polarity complex component	Hydrocephalus, nonsyndromic, autosomal recessive 2?0024970;Congenital communicating hydrocephalus?0020998	https://raresource.nih.gov/literature/gene/MPDZ	8777	ENSG00000107186	7208	https://pubmed.ncbi.nlm.nih.gov/?term=MPDZ	None	None	77249	174
MPI	mannose phosphate isomerase	MPI-congenital disorder of glycosylation?0009830	https://raresource.nih.gov/literature/gene/MPI	4351	ENSG00000178802	7216	https://pubmed.ncbi.nlm.nih.gov/?term=MPI	None	None	4745	660
MPL	MPL proto-oncogene, thrombopoietin receptor	Thrombocythemia 2?0024778;Familial thrombocytosis?0016688;Primary myelofibrosis?0008618;Essential thrombocythemia?0006594;Congenital amegakaryocytic thrombocytopenia 1?0000640	https://raresource.nih.gov/literature/gene/MPL	4352	ENSG00000117400	7217	https://pubmed.ncbi.nlm.nih.gov/?term=MPL	None	None	8345	3756
MPLKIP	M-phase specific PLK1 interacting protein	Trichothiodystrophy 4, nonphotosensitive?0005271;Trichothiodystrophy?0012109	https://raresource.nih.gov/literature/gene/MPLKIP	136647	ENSG00000168303	16002	https://pubmed.ncbi.nlm.nih.gov/?term=MPLKIP	None	None	4187	42
MPO	myeloperoxidase	Alzheimer disease type 1?0009465;Myeloperoxidase deficiency?0003868	https://raresource.nih.gov/literature/gene/MPO	4353	ENSG00000005381	7218	https://pubmed.ncbi.nlm.nih.gov/?term=MPO	None	None	4105	28435
MPV17	mitochondrial inner membrane protein MPV17	Charcot-Marie-Tooth disease, axonal, type 2EE?0025730;Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)?0003972	https://raresource.nih.gov/literature/gene/MPV17	4358	ENSG00000115204	7224	https://pubmed.ncbi.nlm.nih.gov/?term=MPV17	None	None	6481	20
MPZ	myelin protein zero	Roussy-Lévy syndrome?0004741;Charcot-Marie-Tooth disease type 2J?0009198;Charcot-Marie-Tooth disease type 2I?0009197;Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain?0021446;Dejerine-Sottas disease?0009204;Charcot-Marie-Tooth disease type 1B?0001246;Neuropathy, congenital hypomyelinating, 2?0025242;Charcot-Marie-Tooth disease dominant intermediate D?0009207	https://raresource.nih.gov/literature/gene/MPZ	4359	ENSG00000158887	7225	https://pubmed.ncbi.nlm.nih.gov/?term=MPZ	None	None	5365	1955
MPZL2	myelin protein zero like 2	Hearing loss, autosomal recessive?0018117;Hearing loss, autosomal recessive 111?0022659	https://raresource.nih.gov/literature/gene/MPZL2	10205	ENSG00000149573	3496	https://pubmed.ncbi.nlm.nih.gov/?term=MPZL2	None	None	3306	82
MRAP	melanocortin 2 receptor accessory protein	Familial glucocorticoid deficiency?0002498;Glucocorticoid deficiency 2?0015412	https://raresource.nih.gov/literature/gene/MRAP	56246	ENSG00000170262	1304	https://pubmed.ncbi.nlm.nih.gov/?term=MRAP	None	None	7930	1360
MRAS	muscle RAS oncogene homolog	Noonan syndrome?0010955;Noonan syndrome 11?0016357	https://raresource.nih.gov/literature/gene/MRAS	22808	ENSG00000158186	7227	https://pubmed.ncbi.nlm.nih.gov/?term=MRAS	None	None	19949	189
MRE11	MRE11 homolog, double strand break repair nuclease	Ataxia-telangiectasia-like disorder 1?0017209	https://raresource.nih.gov/literature/gene/MRE11	4361	ENSG00000020922	7230	https://pubmed.ncbi.nlm.nih.gov/?term=MRE11	None	None	19031	2391
MRM2	mitochondrial rRNA methyltransferase 2	Mitochondrial DNA depletion syndrome 17?0025752	https://raresource.nih.gov/literature/gene/MRM2	29960	ENSG00000122687	16352	https://pubmed.ncbi.nlm.nih.gov/?term=MRM2	None	None	1961	22
MRPL12	mitochondrial ribosomal protein L12	Combined oxidative phosphorylation deficiency 45?0025804	https://raresource.nih.gov/literature/gene/MRPL12	6182	ENSG00000262814	10378	https://pubmed.ncbi.nlm.nih.gov/?term=MRPL12	None	None	12	52
MRPL3	mitochondrial ribosomal protein L3	Combined oxidative phosphorylation defect type 9?0017453	https://raresource.nih.gov/literature/gene/MRPL3	11222	ENSG00000114686	10379	https://pubmed.ncbi.nlm.nih.gov/?term=MRPL3	None	None	16628	39
MRPL39	mitochondrial ribosomal protein L39	Combined oxidative phosphorylation deficiency 59?0026903	https://raresource.nih.gov/literature/gene/MRPL39	54148	ENSG00000154719	14027	https://pubmed.ncbi.nlm.nih.gov/?term=MRPL39	None	None	6409	23
MRPL44	mitochondrial ribosomal protein L44	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency?0012892	https://raresource.nih.gov/literature/gene/MRPL44	65080	ENSG00000135900	16650	https://pubmed.ncbi.nlm.nih.gov/?term=MRPL44	None	None	5593	21
MRPS14	mitochondrial ribosomal protein S14	Combined oxidative phosphorylation deficiency 38?0025726	https://raresource.nih.gov/literature/gene/MRPS14	63931	ENSG00000120333	14049	https://pubmed.ncbi.nlm.nih.gov/?term=MRPS14	None	None	2506	6
MRPS16	mitochondrial ribosomal protein S16	Combined oxidative phosphorylation defect type 2?0017232	https://raresource.nih.gov/literature/gene/MRPS16	51021	ENSG00000182180	14048	https://pubmed.ncbi.nlm.nih.gov/?term=MRPS16	None	None	1892	17
MRPS2	mitochondrial ribosomal protein S2	Combined oxidative phosphorylation deficiency 36?0025974	https://raresource.nih.gov/literature/gene/MRPS2	51116	ENSG00000122140	14495	https://pubmed.ncbi.nlm.nih.gov/?term=MRPS2	None	None	2706	14
MRPS22	mitochondrial ribosomal protein S22	46 XX gonadal dysgenesis?0005671;Ovarian dysgenesis 7?0018043;Hypotonia with lactic acidemia and hyperammonemia?0016950	https://raresource.nih.gov/literature/gene/MRPS22	56945	ENSG00000175110	14508	https://pubmed.ncbi.nlm.nih.gov/?term=MRPS22	None	None	125111	30
MRPS23	mitochondrial ribosomal protein S23	Combined oxidative phosphorylation deficiency 46?0025805	https://raresource.nih.gov/literature/gene/MRPS23	51649	ENSG00000181610	14509	https://pubmed.ncbi.nlm.nih.gov/?term=MRPS23	None	None	6606	27
MRPS28	mitochondrial ribosomal protein S28	Combined oxidative phosphorylation deficiency 47?0025806	https://raresource.nih.gov/literature/gene/MRPS28	28957	ENSG00000147586	14513	https://pubmed.ncbi.nlm.nih.gov/?term=MRPS28	None	None	38404	24
MRPS34	mitochondrial ribosomal protein S34	Combined oxidative phosphorylation deficiency 32?0025956	https://raresource.nih.gov/literature/gene/MRPS34	65993	ENSG00000074071	16618	https://pubmed.ncbi.nlm.nih.gov/?term=MRPS34	None	None	757	28
MRPS7	mitochondrial ribosomal protein S7	Combined oxidative phosphorylation deficiency 34?0017799	https://raresource.nih.gov/literature/gene/MRPS7	51081	ENSG00000125445	14499	https://pubmed.ncbi.nlm.nih.gov/?term=MRPS7	None	None	1923	31
MRTFA	myocardin related transcription factor A	Immune deficiency due to impaired neutrophil phagocytosis and migration?0022464	https://raresource.nih.gov/literature/gene/MRTFA	57591	ENSG00000196588	14334	https://pubmed.ncbi.nlm.nih.gov/?term=MRTFA	None	None	82770	1573
MS4A1	membrane spanning 4-domains A1	Immunodeficiency, common variable, 5?0015670	https://raresource.nih.gov/literature/gene/MS4A1	931	ENSG00000156738	7315	https://pubmed.ncbi.nlm.nih.gov/?term=MS4A1	None	None	6487	13250
MSH2	mutS homolog 2	Lynch syndrome 1?0015052;Mismatch repair cancer syndrome 2?0018362;Muir-Torré syndrome?0006821	https://raresource.nih.gov/literature/gene/MSH2	4436	ENSG00000095002	7325	https://pubmed.ncbi.nlm.nih.gov/?term=MSH2	None	None	138307	5902
MSH3	mutS homolog 3	Familial adenomatous polyposis 4?0017868	https://raresource.nih.gov/literature/gene/MSH3	4437	ENSG00000113318	7326	https://pubmed.ncbi.nlm.nih.gov/?term=MSH3	None	None	85487	3580
MSH4	mutS homolog 4	46 XX gonadal dysgenesis?0005671;Spermatogenic failure 2?0015041;Premature ovarian failure 20?0025670	https://raresource.nih.gov/literature/gene/MSH4	4438	ENSG00000057468	7327	https://pubmed.ncbi.nlm.nih.gov/?term=MSH4	None	None	46942	184
MSH5	mutS homolog 5	Premature ovarian failure 13?0025891	https://raresource.nih.gov/literature/gene/MSH5	4439	ENSG00000204410	7328	https://pubmed.ncbi.nlm.nih.gov/?term=MSH5	None	None	8281	317
MSH6	mutS homolog 6	Lynch syndrome 5?0015792;Mismatch repair cancer syndrome 3?0018363	https://raresource.nih.gov/literature/gene/MSH6	2956	ENSG00000116062	7329	https://pubmed.ncbi.nlm.nih.gov/?term=MSH6	None	None	75781	3634
MSL3	MSL complex subunit 3	Basilicata-Akhtar syndrome?0025485	https://raresource.nih.gov/literature/gene/MSL3	10943	ENSG00000005302	7370	https://pubmed.ncbi.nlm.nih.gov/?term=MSL3	None	None	3781	76
MSMB	microseminoprotein beta	Prostate cancer, hereditary, 13?0015534	https://raresource.nih.gov/literature/gene/MSMB	4477	ENSG00000263639	7372	https://pubmed.ncbi.nlm.nih.gov/?term=MSMB	None	None	6445	15
MSMO1	methylsterol monooxygenase 1	Microcephaly-congenital cataract-psoriasiform dermatitis syndrome?0017886	https://raresource.nih.gov/literature/gene/MSMO1	6307	ENSG00000052802	10545	https://pubmed.ncbi.nlm.nih.gov/?term=MSMO1	None	None	7704	177
MSN	moesin	Combined immunodeficiency due to moesin deficiency?0017939	https://raresource.nih.gov/literature/gene/MSN	4478	ENSG00000147065	7373	https://pubmed.ncbi.nlm.nih.gov/?term=MSN	None	None	22046	1900
MSRB3	methionine sulfoxide reductase B3	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 74?0022638	https://raresource.nih.gov/literature/gene/MSRB3	253827	ENSG00000174099	27375	https://pubmed.ncbi.nlm.nih.gov/?term=MSRB3	None	None	42867	115
MSTO1	misato mitochondrial distribution and morphology regulator 1	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome?0017934	https://raresource.nih.gov/literature/gene/MSTO1	55154	ENSG00000125459	29678	https://pubmed.ncbi.nlm.nih.gov/?term=MSTO1	None	None	3920	366
MSX1	msh homeobox 1	Hypodontia?0016908;Hypoplastic enamel-onycholysis-hypohidrosis syndrome?0005587;Tooth agenesis, selective, 1?0018244;Orofacial cleft 5?0018305	https://raresource.nih.gov/literature/gene/MSX1	4487	ENSG00000163132	7391	https://pubmed.ncbi.nlm.nih.gov/?term=MSX1	None	None	4380	1112
MSX2	msh homeobox 2	Parietal foramina with cleidocranial dysplasia?0017207;Parietal foramina 1?0018051;Parietal foramina?0016662;Craniosynostosis 2?0005538	https://raresource.nih.gov/literature/gene/MSX2	4488	ENSG00000120149	7392	https://pubmed.ncbi.nlm.nih.gov/?term=MSX2	None	None	4402	29
MT-ATP6	mitochondrially encoded ATP synthase membrane subunit 6	Maternally-inherited spastic paraplegia?0021433;NARP syndrome?0000262;Maternally-inherited Leigh syndrome?0003671;Periodic paralysis with later-onset distal motor neuropathy?0021634;Mitochondrial proton-transporting ATP synthase complex deficiency?0018649;Leber optic atrophy?0006870	https://raresource.nih.gov/literature/gene/MT-ATP6	4508	ENSG00000198899	7414	https://pubmed.ncbi.nlm.nih.gov/?term=MT-ATP6	None	None	None	1482
MT-ATP8	mitochondrially encoded ATP synthase membrane subunit 8	Mitochondrial proton-transporting ATP synthase complex deficiency?0018649;Periodic paralysis with later-onset distal motor neuropathy?0021634	https://raresource.nih.gov/literature/gene/MT-ATP8	4509	ENSG00000228253	7415	https://pubmed.ncbi.nlm.nih.gov/?term=MT-ATP8	None	None	None	947
MT-CO1	mitochondrially encoded cytochrome c oxidase I	MELAS syndrome?0007009;Hereditary recurrent myoglobinuria?0016916;Mitochondrial non-syndromic sensorineural hearing loss?0016792	https://raresource.nih.gov/literature/gene/MT-CO1	4512	ENSG00000198804	7419	https://pubmed.ncbi.nlm.nih.gov/?term=MT-CO1	None	None	None	12108
MT-CO2	mitochondrially encoded cytochrome c oxidase II	MELAS syndrome?0007009	https://raresource.nih.gov/literature/gene/MT-CO2	4513	ENSG00000198712	7421	https://pubmed.ncbi.nlm.nih.gov/?term=MT-CO2	None	None	None	6122
MT-CO3	mitochondrially encoded cytochrome c oxidase III	MELAS syndrome?0007009;Leber optic atrophy?0006870;Hereditary recurrent myoglobinuria?0016916	https://raresource.nih.gov/literature/gene/MT-CO3	4514	ENSG00000198938	7422	https://pubmed.ncbi.nlm.nih.gov/?term=MT-CO3	None	None	None	1046
MT-CYB	mitochondrially encoded cytochrome b	Mitochondrial complex III deficiency?0008295;MELAS syndrome?0007009;Leber optic atrophy?0006870	https://raresource.nih.gov/literature/gene/MT-CYB	4519	ENSG00000198727	7427	https://pubmed.ncbi.nlm.nih.gov/?term=MT-CYB	None	None	None	5701
MT-ND1	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1	MELAS syndrome?0007009;MELAS syndrome caused by mutation in MTND1?0026421;Mitochondrial complex I deficiency?0003908;Maternally-inherited Leigh syndrome?0003671;Leber optic atrophy?0006870	https://raresource.nih.gov/literature/gene/MT-ND1	4535	ENSG00000198888	7455	https://pubmed.ncbi.nlm.nih.gov/?term=MT-ND1	None	None	None	1672
MT-ND2	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2	Mitochondrial complex I deficiency?0003908;Maternally-inherited Leigh syndrome?0003671;Leber optic atrophy?0006870	https://raresource.nih.gov/literature/gene/MT-ND2	4536	ENSG00000198763	7456	https://pubmed.ncbi.nlm.nih.gov/?term=MT-ND2	None	None	None	1312
MT-ND3	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3	Maternally-inherited Leigh syndrome?0003671;Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, mitochondrial type 1?0025494;Leber plus disease?0008476	https://raresource.nih.gov/literature/gene/MT-ND3	4537	ENSG00000198840	7458	https://pubmed.ncbi.nlm.nih.gov/?term=MT-ND3	None	None	None	678
MT-ND4	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4	Leber plus disease?0008476;Maternally-inherited Leigh syndrome?0003671;Leber optic atrophy?0006870	https://raresource.nih.gov/literature/gene/MT-ND4	4538	ENSG00000198886	7459	https://pubmed.ncbi.nlm.nih.gov/?term=MT-ND4	None	None	None	1405
MT-ND4L	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L	Leber optic atrophy?0006870	https://raresource.nih.gov/literature/gene/MT-ND4L	4539	ENSG00000212907	7460	https://pubmed.ncbi.nlm.nih.gov/?term=MT-ND4L	None	None	None	83
MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	MELAS syndrome caused by mutation in MTND5?0026422;MELAS syndrome?0007009;Maternally-inherited Leigh syndrome?0003671;Leber optic atrophy?0006870	https://raresource.nih.gov/literature/gene/MT-ND5	4540	ENSG00000198786	7461	https://pubmed.ncbi.nlm.nih.gov/?term=MT-ND5	None	None	None	290
MT-ND6	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6	MELAS syndrome?0007009;Maternally-inherited Leigh syndrome?0003671;MELAS syndrome caused by mutation in MTND6?0026423;Leber plus disease?0008476;Leber optic atrophy?0006870	https://raresource.nih.gov/literature/gene/MT-ND6	4541	ENSG00000198695	7462	https://pubmed.ncbi.nlm.nih.gov/?term=MT-ND6	None	None	None	1314
MT-RNR1	mitochondrially encoded 12S rRNA	Mitochondrial non-syndromic sensorineural hearing loss?0016792	https://raresource.nih.gov/literature/gene/MT-RNR1	4549		7470	https://pubmed.ncbi.nlm.nih.gov/?term=MT-RNR1	None	None	None	377
MT-TC	mitochondrially encoded tRNA-Cys (UGU/C)	MELAS syndrome caused by mutation in MTTC?0026419;MELAS syndrome?0007009	https://raresource.nih.gov/literature/gene/MT-TC				https://pubmed.ncbi.nlm.nih.gov/?term=MT-TC	None	None	None	None
MT-TE	mitochondrially encoded tRNA-Glu (GAA/G)	Mitochondrial myopathy with diabetes?0003881;Mitochondrial myopathy with reversible cytochrome C oxidase deficiency?0017227	https://raresource.nih.gov/literature/gene/MT-TE	4556		7479	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TE	None	None	None	363
MT-TF	mitochondrially encoded tRNA-Phe (UUU/C)	MELAS syndrome?0007009;Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation?0022486;MERRF syndrome?0007144	https://raresource.nih.gov/literature/gene/MT-TF	4558		7481	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TF	None	None	None	1156
MT-TH	mitochondrially encoded tRNA-His (CAU/C)	MELAS syndrome caused by mutation in MTTH?0026417;MELAS syndrome?0007009;MERRF syndrome?0007144	https://raresource.nih.gov/literature/gene/MT-TH	4564		7487	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TH	None	None	None	1205
MT-TI	mitochondrially encoded tRNA-Ile (AUU/C)	Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation?0022486;MERRF syndrome?0007144	https://raresource.nih.gov/literature/gene/MT-TI	4565		7488	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TI	None	None	None	485
MT-TK	mitochondrially encoded tRNA-Lys (AAA/G)	MELAS syndrome?0007009;MELAS syndrome caused by mutation in MTTK?0026418;Maternally-inherited Leigh syndrome?0003671;MERRF syndrome?0007144;Maternally-inherited cardiomyopathy and hearing loss?0018719	https://raresource.nih.gov/literature/gene/MT-TK	4566		7489	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TK	None	None	None	728
MT-TL1	mitochondrially encoded tRNA-Leu (UUA/G) 1	MELAS syndrome?0007009;Maternally-inherited Leigh syndrome?0003671;MELAS syndrome caused by mutation in MTTL1?0026415;Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation?0021442;MERRF syndrome?0007144	https://raresource.nih.gov/literature/gene/MT-TL1	4567		7490	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TL1	None	None	None	362
MT-TL2	mitochondrially encoded tRNA-Leu (CUN) 2	Alternating hemiplegia of childhood?0000011;MELAS syndrome?0007009;Maternally-inherited progressive external ophthalmoplegia?0016479	https://raresource.nih.gov/literature/gene/MT-TL2	4568		7491	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TL2	None	None	None	263
MT-TN	mitochondrially encoded tRNA-Asn (AAU/C)	Maternally-inherited progressive external ophthalmoplegia?0016479	https://raresource.nih.gov/literature/gene/MT-TN	4570		7493	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TN	None	None	None	226
MT-TP	mitochondrially encoded tRNA-Pro (CCN)	MERRF syndrome?0007144	https://raresource.nih.gov/literature/gene/MT-TP	4571		7494	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TP	None	None	None	693
MT-TQ	mitochondrially encoded tRNA-Gln (CAA/G)	MELAS syndrome caused by mutation in MTTQ?0026416;MELAS syndrome?0007009	https://raresource.nih.gov/literature/gene/MT-TQ	4572		7495	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TQ	None	None	None	498
MT-TS1	mitochondrially encoded tRNA-Ser (UCN) 1	MELAS syndrome?0007009;MELAS syndrome caused by mutation in MTTS1?0026420;Maternally-inherited progressive external ophthalmoplegia?0016479;MERRF syndrome?0007144;Mitochondrial non-syndromic sensorineural hearing loss?0016792	https://raresource.nih.gov/literature/gene/MT-TS1	4574		7497	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TS1	None	None	None	530
MT-TS2	mitochondrially encoded tRNA-Ser (AGU/C) 2	MELAS syndrome?0007009;Usher syndrome type 3?0005442;MERRF syndrome?0007144;MELAS syndrome caused by mutation in MTTS2?0026424	https://raresource.nih.gov/literature/gene/MT-TS2	4575		7498	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TS2	None	None	None	276
MT-TT	mitochondrially encoded tRNA-Thr (ACN)	Lethal infantile mitochondrial myopathy?0017226;Parkinson disease, late-onset?0017684	https://raresource.nih.gov/literature/gene/MT-TT	4576		7499	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TT	None	None	None	554
MT-TV	mitochondrially encoded tRNA-Val (GUN)	MELAS syndrome?0007009;Maternally-inherited Leigh syndrome?0003671	https://raresource.nih.gov/literature/gene/MT-TV	4577		7500	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TV	None	None	None	400
MT-TW	mitochondrially encoded tRNA-Trp (UGA/G)	MELAS syndrome?0007009;Maternally-inherited Leigh syndrome?0003671	https://raresource.nih.gov/literature/gene/MT-TW	4578		7501	https://pubmed.ncbi.nlm.nih.gov/?term=MT-TW	None	None	None	272
MTAP	methylthioadenosine phosphorylase	Diaphyseal medullary stenosis-bone malignancy syndrome?0010072	https://raresource.nih.gov/literature/gene/MTAP	4507	ENSG00000099810	7413	https://pubmed.ncbi.nlm.nih.gov/?term=MTAP	None	None	63820	832
MTFMT	mitochondrial methionyl-tRNA formyltransferase	Combined oxidative phosphorylation defect type 15?0017456;Mitochondrial complex I deficiency, nuclear type 27?0018375	https://raresource.nih.gov/literature/gene/MTFMT	123263	ENSG00000103707	29666	https://pubmed.ncbi.nlm.nih.gov/?term=MTFMT	None	None	8791	40
MTHFD1	methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1	Neural tube defects, folate-sensitive?0024774;Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia?0026001	https://raresource.nih.gov/literature/gene/MTHFD1	4522	ENSG00000100714	7432	https://pubmed.ncbi.nlm.nih.gov/?term=MTHFD1	None	None	24907	364
MTHFR	methylenetetrahydrofolate reductase	Neural tube defects, folate-sensitive?0024774;Homocystinuria due to methylene tetrahydrofolate reductase deficiency?0002734;Thrombophilia due to thrombin defect?0010815	https://raresource.nih.gov/literature/gene/MTHFR	4524	ENSG00000177000	7436	https://pubmed.ncbi.nlm.nih.gov/?term=MTHFR	None	None	7035	8092
MTHFS	methenyltetrahydrofolate synthetase	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination?0018018	https://raresource.nih.gov/literature/gene/MTHFS	10588	ENSG00000136371	7437	https://pubmed.ncbi.nlm.nih.gov/?term=MTHFS	None	None	17148	8
MTM1	myotubularin 1	Severe X-linked myotubular myopathy?0011925	https://raresource.nih.gov/literature/gene/MTM1	4534	ENSG00000171100	7448	https://pubmed.ncbi.nlm.nih.gov/?term=MTM1	None	None	17082	459
MTMR2	myotubularin related protein 2	Charcot-Marie-Tooth disease type 4B1?0001253	https://raresource.nih.gov/literature/gene/MTMR2	8898	ENSG00000087053	7450	https://pubmed.ncbi.nlm.nih.gov/?term=MTMR2	None	None	21854	177
MTO1	mitochondrial tRNA translation optimization 1	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency?0017428	https://raresource.nih.gov/literature/gene/MTO1	25821	ENSG00000135297	19261	https://pubmed.ncbi.nlm.nih.gov/?term=MTO1	None	None	22639	115
MTOR	mechanistic target of rapamycin kinase	MTOR-related overgrowth spectrum?0027069;Isolated focal cortical dysplasia type IIb?0017271;Hemimegalencephaly?0002637;Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome?0013636;Isolated focal cortical dysplasia type II?0010190;Isolated focal cortical dysplasia type IIa?0017270	https://raresource.nih.gov/literature/gene/MTOR	2475	ENSG00000198793	3942	https://pubmed.ncbi.nlm.nih.gov/?term=MTOR	None	None	69895	57306
MTPAP	mitochondrial poly(A) polymerase	Spastic ataxia 4?0010992	https://raresource.nih.gov/literature/gene/MTPAP	55149	ENSG00000107951	25532	https://pubmed.ncbi.nlm.nih.gov/?term=MTPAP	None	None	25184	46
MTR	5-methyltetrahydrofolate-homocysteine methyltransferase	Neural tube defects, folate-sensitive?0024774;Methylcobalamin deficiency type cblG?0003577	https://raresource.nih.gov/literature/gene/MTR	4548	ENSG00000116984	7468	https://pubmed.ncbi.nlm.nih.gov/?term=MTR	None	None	52880	2304
MTRFR	mitochondrial translation release factor in rescue	Hereditary spastic paraplegia 55?0017474;Combined oxidative phosphorylation defect type 7?0017234	https://raresource.nih.gov/literature/gene/MTRFR	91574	ENSG00000130921	26784	https://pubmed.ncbi.nlm.nih.gov/?term=MTRFR	None	None	None	34
MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Neural tube defects, folate-sensitive?0024774;Methylcobalamin deficiency type cblE?0003576	https://raresource.nih.gov/literature/gene/MTRR	4552	ENSG00000124275	7473	https://pubmed.ncbi.nlm.nih.gov/?term=MTRR	None	None	20078	15
MTTP	microsomal triglyceride transfer protein	Abetalipoproteinaemia?0000005	https://raresource.nih.gov/literature/gene/MTTP	4547	ENSG00000138823	7467	https://pubmed.ncbi.nlm.nih.gov/?term=MTTP	None	None	21925	7436
MTX2	metaxin 2	Mandibuloacral dysplasia progeroid syndrome?0025648	https://raresource.nih.gov/literature/gene/MTX2	10651	ENSG00000128654	7506	https://pubmed.ncbi.nlm.nih.gov/?term=MTX2	None	None	26704	78
MUC1	mucin 1, cell surface associated	Tubulointerstitial kidney disease, autosomal dominant, 2?0007002	https://raresource.nih.gov/literature/gene/MUC1	4582	ENSG00000185499	7508	https://pubmed.ncbi.nlm.nih.gov/?term=MUC1	None	None	3997	67
MUC16	mucin 16, cell surface associated	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/MUC16	94025	ENSG00000181143	15582	https://pubmed.ncbi.nlm.nih.gov/?term=MUC16	None	None	60721	6708
MUC5B	mucin 5B, oligomeric mucus/gel-forming	Idiopathic Pulmonary Fibrosis?0027547	https://raresource.nih.gov/literature/gene/MUC5B	727897	ENSG00000117983	7516	https://pubmed.ncbi.nlm.nih.gov/?term=MUC5B	None	None	24412	1532
MUSK	muscle associated receptor tyrosine kinase	Congenital myasthenic syndrome 4C?0010108;Fetal akinesia deformation sequence 1?0026048;Postsynaptic congenital myasthenic syndrome?0015022;Congenital myasthenic syndrome 9?0016088	https://raresource.nih.gov/literature/gene/MUSK	4593	ENSG00000030304	7525	https://pubmed.ncbi.nlm.nih.gov/?term=MUSK	None	None	57006	2155
MUTYH	mutY DNA glycosylase	Familial colorectal cancer type X?0021840;Gastric cancer?0007704;Familial adenomatous polyposis 2?0010805	https://raresource.nih.gov/literature/gene/MUTYH	4595	ENSG00000132781	7527	https://pubmed.ncbi.nlm.nih.gov/?term=MUTYH	None	None	6799	1278
MVD	mevalonate diphosphate decarboxylase	Disseminated superficial actinic porokeratosis?0010983;Porokeratosis 7, multiple types?0015838	https://raresource.nih.gov/literature/gene/MVD	4597	ENSG00000167508	7529	https://pubmed.ncbi.nlm.nih.gov/?term=MVD	None	None	5173	245
MVK	mevalonate kinase	Hyperimmunoglobulin D with periodic fever?0002788;Porokeratosis 3, disseminated superficial actinic type?0009505;Porokeratosis of Mibelli?0004438;Disseminated superficial actinic porokeratosis?0010983;Mevalonic aciduria?0003588	https://raresource.nih.gov/literature/gene/MVK	4598	ENSG00000110921	7530	https://pubmed.ncbi.nlm.nih.gov/?term=MVK	None	None	6638	1550
MXI1	MAX interactor 1, dimerization protein	Familial prostate cancer?0027144	https://raresource.nih.gov/literature/gene/MXI1	4601	ENSG00000119950	7534	https://pubmed.ncbi.nlm.nih.gov/?term=MXI1	None	None	13448	1294
MYBPC1	myosin binding protein C1	Myopathy, congenital, with tremor?0025748;Lethal congenital contracture syndrome 4?0012645;Digitotalar dysmorphism?0000787;Arthrogryposis, distal, type 1B?0015790;MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome?0022035	https://raresource.nih.gov/literature/gene/MYBPC1	4604	ENSG00000196091	7549	https://pubmed.ncbi.nlm.nih.gov/?term=MYBPC1	None	None	24171	97
MYBPC3	myosin binding protein C3	Left ventricular noncompaction 10?0015956;Hypertrophic cardiomyopathy 4?0024542;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/MYBPC3	4607	ENSG00000134571	7551	https://pubmed.ncbi.nlm.nih.gov/?term=MYBPC3	None	None	12046	1411
MYC	MYC proto-oncogene, bHLH transcription factor	Burkitt lymphoma?0005973	https://raresource.nih.gov/literature/gene/MYC	4609	ENSG00000136997	7553	https://pubmed.ncbi.nlm.nih.gov/?term=MYC	None	None	6484	47795
MYCN	MYCN proto-oncogene, bHLH transcription factor	Feingold syndrome type 1?0017624	https://raresource.nih.gov/literature/gene/MYCN	4613	ENSG00000134323	7559	https://pubmed.ncbi.nlm.nih.gov/?term=MYCN	None	None	5101	5129
MYD88	MYD88 innate immune signal transduction adaptor	Waldenstrom macroglobulinemia?0007872;Pyogenic bacterial infections due to MyD88 deficiency?0012638;Macroglobulinemia, Waldenstrom, 1?0026122	https://raresource.nih.gov/literature/gene/MYD88	4615	ENSG00000172936	7562	https://pubmed.ncbi.nlm.nih.gov/?term=MYD88	None	None	2818	12282
MYH10	myosin heavy chain 10	MYH10-related neurodevelopmental disorder with congenital anomalies?0027145	https://raresource.nih.gov/literature/gene/MYH10	4628	ENSG00000133026	7568	https://pubmed.ncbi.nlm.nih.gov/?term=MYH10	None	None	39524	270
MYH11	myosin heavy chain 11	Visceral myopathy 2?0016446;Tetralogy of Fallot?0002245;Familial thoracic aortic aneurysm and aortic dissection?0002249;Aortic aneurysm, familial thoracic 4?0009876;Megacystis-microcolon-intestinal hypoperistalsis syndrome 2?0016447	https://raresource.nih.gov/literature/gene/MYH11	4629	ENSG00000133392	7569	https://pubmed.ncbi.nlm.nih.gov/?term=MYH11	None	None	60153	1318
MYH14	myosin heavy chain 14	Autosomal dominant nonsyndromic hearing loss 4A?0018100;Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome?0017639;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/MYH14	79784	ENSG00000105357	23212	https://pubmed.ncbi.nlm.nih.gov/?term=MYH14	None	None	35683	16397
MYH2	myosin heavy chain 2	Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome?0009494;Myopathy, proximal, and ophthalmoplegia?0024809;Childhood-onset autosomal recessive myopathy with external ophthalmoplegia?0017568	https://raresource.nih.gov/literature/gene/MYH2	4620	ENSG00000125414	7572	https://pubmed.ncbi.nlm.nih.gov/?term=MYH2	None	None	9148	497
MYH3	myosin heavy chain 3	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A?0013058;Digitotalar dysmorphism?0000787;Contractures, pterygia, and variable skeletal fusions syndrome 1B?0025234;Freeman-Sheldon syndrome?0006466;Arthrogryposis, distal, type 2B3?0025733;Sheldon-Hall syndrome?0016556	https://raresource.nih.gov/literature/gene/MYH3	4621	ENSG00000109063	7573	https://pubmed.ncbi.nlm.nih.gov/?term=MYH3	None	None	9748	262
MYH6	myosin heavy chain 6	Atrial septal defect, ostium secundum type?0005865;Familial isolated dilated cardiomyopathy?0027293;Tetralogy of Fallot?0002245;Atrial septal defect 3?0015755;Hypertrophic cardiomyopathy 14?0024907;Hypertrophic cardiomyopathy 1?0024636;Dilated cardiomyopathy 1EE?0015639	https://raresource.nih.gov/literature/gene/MYH6	4624	ENSG00000197616	7576	https://pubmed.ncbi.nlm.nih.gov/?term=MYH6	None	None	10070	2119
MYH7	myosin heavy chain 7	Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)?0020434;Myosin storage myopathy?0015429;Familial isolated dilated cardiomyopathy?0027293;Myopathy, myosin storage, autosomal recessive?0015207;Left ventricular noncompaction?0010985;Ebstein anomaly?0006313;Tetralogy of Fallot?0002245;Dilated cardiomyopathy 1S?0012832;Hypertrophic cardiomyopathy 1?0024636;MYH7-related skeletal myopathy?0010769;Classic multiminicore myopathy?0013661	https://raresource.nih.gov/literature/gene/MYH7	4625	ENSG00000092054	7577	https://pubmed.ncbi.nlm.nih.gov/?term=MYH7	None	None	10218	1382
MYH7B	myosin heavy chain 7B	Left ventricular noncompaction?0010985	https://raresource.nih.gov/literature/gene/MYH7B	57644	ENSG00000078814	15906	https://pubmed.ncbi.nlm.nih.gov/?term=MYH7B	None	None	13242	193
MYH8	myosin heavy chain 8	Hecht syndrome?0002621;Carney complex - trismus - pseudocamptodactyly syndrome?0017448	https://raresource.nih.gov/literature/gene/MYH8	4626	ENSG00000133020	7578	https://pubmed.ncbi.nlm.nih.gov/?term=MYH8	None	None	9376	98
MYH9	myosin heavy chain 9	Autosomal dominant nonsyndromic hearing loss 17?0009726;Autosomal dominant nonsyndromic hearing loss?0016791;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss?0000180	https://raresource.nih.gov/literature/gene/MYH9	4627	ENSG00000100345	7579	https://pubmed.ncbi.nlm.nih.gov/?term=MYH9	None	None	39706	1166
MYL1	myosin light chain 1	Congenital myopathy with reduced type 2 muscle fibers?0017989	https://raresource.nih.gov/literature/gene/MYL1	4632	ENSG00000168530	7582	https://pubmed.ncbi.nlm.nih.gov/?term=MYL1	None	None	10233	551
MYL11	myosin light chain 11	Arthrogryposis, distal, type 1C?0016421	https://raresource.nih.gov/literature/gene/MYL11	29895	ENSG00000180209	29824	https://pubmed.ncbi.nlm.nih.gov/?term=MYL11	None	None	None	487
MYL2	myosin light chain 2	Hypertrophic cardiomyopathy 10?0024843;Congenital myopathy with fiber type disproportion?0006161;Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy?0026661	https://raresource.nih.gov/literature/gene/MYL2	4633	ENSG00000111245	7583	https://pubmed.ncbi.nlm.nih.gov/?term=MYL2	None	None	4824	1087
MYL3	myosin light chain 3	Hypertrophic cardiomyopathy 8?0024842	https://raresource.nih.gov/literature/gene/MYL3	4634	ENSG00000160808	7584	https://pubmed.ncbi.nlm.nih.gov/?term=MYL3	None	None	14617	358
MYL4	myosin light chain 4	Atrial fibrillation, familial, 18?0016219;Familial atrial fibrillation?0009740	https://raresource.nih.gov/literature/gene/MYL4	4635	ENSG00000198336	7585	https://pubmed.ncbi.nlm.nih.gov/?term=MYL4	None	None	6292	252
MYLK	myosin light chain kinase	Familial thoracic aortic aneurysm and aortic dissection?0002249;Aortic aneurysm, familial thoracic 7?0015706;Megacystis-microcolon-intestinal hypoperistalsis syndrome 1?0015195	https://raresource.nih.gov/literature/gene/MYLK	4638	ENSG00000065534	7590	https://pubmed.ncbi.nlm.nih.gov/?term=MYLK	None	None	95620	3804
MYLK2	myosin light chain kinase 2	Hypertrophic cardiomyopathy 1?0024636	https://raresource.nih.gov/literature/gene/MYLK2	85366	ENSG00000101306	16243	https://pubmed.ncbi.nlm.nih.gov/?term=MYLK2	None	None	5217	1866
MYMK	myomaker, myoblast fusion factor	Congenital nonprogressive myopathy with Moebius and Robin sequences?0003889;Carey-Fineman-Ziter syndrome 1?0026558	https://raresource.nih.gov/literature/gene/MYMK	389827	ENSG00000187616	33778	https://pubmed.ncbi.nlm.nih.gov/?term=MYMK	None	None	6830	137
MYMX	myomixer, myoblast fusion factor	Congenital nonprogressive myopathy with Moebius and Robin sequences?0003889;Carey-Fineman-Ziter syndrome 2?0026128	https://raresource.nih.gov/literature/gene/MYMX	101929726	ENSG00000262179	52391	https://pubmed.ncbi.nlm.nih.gov/?term=MYMX	None	None	1158	45
MYO15A	myosin XVA	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 3?0022583	https://raresource.nih.gov/literature/gene/MYO15A	51168	ENSG00000091536	7594	https://pubmed.ncbi.nlm.nih.gov/?term=MYO15A	None	None	19874	282
MYO18B	myosin XVIIIB	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome?0017778	https://raresource.nih.gov/literature/gene/MYO18B	84700	ENSG00000133454	18150	https://pubmed.ncbi.nlm.nih.gov/?term=MYO18B	None	None	99010	73
MYO1A	myosin IA	Autosomal dominant nonsyndromic hearing loss 48?0018120	https://raresource.nih.gov/literature/gene/MYO1A	4640	ENSG00000166866	7595	https://pubmed.ncbi.nlm.nih.gov/?term=MYO1A	None	None	7955	137
MYO1C	myosin IC	Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/MYO1C	4641	ENSG00000197879	7597	https://pubmed.ncbi.nlm.nih.gov/?term=MYO1C	None	None	15520	311
MYO1E	myosin IE	Focal segmental glomerulosclerosis 6?0015761;Familial idiopathic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/MYO1E	4643	ENSG00000157483	7599	https://pubmed.ncbi.nlm.nih.gov/?term=MYO1E	None	None	70985	255
MYO3A	myosin IIIA	Hearing loss, autosomal dominant 90?0026979;Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 30?0022603	https://raresource.nih.gov/literature/gene/MYO3A	53904	ENSG00000095777	7601	https://pubmed.ncbi.nlm.nih.gov/?term=MYO3A	None	None	101566	76
MYO5A	myosin VA	Neuroectodermal melanolysosomal disease?0016630;Griscelli syndrome type 1?0002566	https://raresource.nih.gov/literature/gene/MYO5A	4644	ENSG00000197535	7602	https://pubmed.ncbi.nlm.nih.gov/?term=MYO5A	None	None	55522	1183
MYO5B	myosin VB	Cholestasis, progressive familial intrahepatic, 10?0025641;Congenital microvillous atrophy?0007039;MYO5B-related progressive familial intrahepatic cholestasis?0021972	https://raresource.nih.gov/literature/gene/MYO5B	4645	ENSG00000167306	7603	https://pubmed.ncbi.nlm.nih.gov/?term=MYO5B	None	None	95230	251
MYO6	myosin VI	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 37?0022605;Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome?0017145;Autosomal dominant nonsyndromic hearing loss?0016791;Autosomal dominant nonsyndromic hearing loss 22?0009167	https://raresource.nih.gov/literature/gene/MYO6	4646	ENSG00000196586	7605	https://pubmed.ncbi.nlm.nih.gov/?term=MYO6	None	None	67140	584
MYO7A	myosin VIIA	Hearing loss, autosomal recessive?0018117;Autosomal dominant nonsyndromic hearing loss 11?0018104;Autosomal recessive nonsyndromic hearing loss 2?0022582;Autosomal dominant nonsyndromic hearing loss?0016791;Usher syndrome type 1?0005435;Usher syndrome type 2?0005440;Usher syndrome type 1B?0005436	https://raresource.nih.gov/literature/gene/MYO7A	4647	ENSG00000137474	7606	https://pubmed.ncbi.nlm.nih.gov/?term=MYO7A	None	None	25293	682
MYO9A	myosin IXA	Myasthenic syndrome, congenital, 24, presynaptic?0016309	https://raresource.nih.gov/literature/gene/MYO9A	4649	ENSG00000066933	7608	https://pubmed.ncbi.nlm.nih.gov/?term=MYO9A	None	None	99482	40
MYOC	myocilin	Glaucoma of childhood?0016883;Glaucoma 1, open angle, A?0009485	https://raresource.nih.gov/literature/gene/MYOC	4653	ENSG00000034971	7610	https://pubmed.ncbi.nlm.nih.gov/?term=MYOC	None	None	7793	844
MYOD1	myogenic differentiation 1	Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies?0025807	https://raresource.nih.gov/literature/gene/MYOD1	4654	ENSG00000129152	7611	https://pubmed.ncbi.nlm.nih.gov/?term=MYOD1	None	None	2732	5505
MYOF	myoferlin	Hereditary angioedema with normal C1inh not related to F12 or PLG variant?0022406;Angioedema, hereditary, 7?0025482	https://raresource.nih.gov/literature/gene/MYOF	26509	ENSG00000138119	3656	https://pubmed.ncbi.nlm.nih.gov/?term=MYOF	None	None	70045	72
MYORG	myogenesis regulating glycosidase	Bilateral striopallidodentate calcinosis?0006406;Basal ganglia calcification, idiopathic, 7, autosomal recessive?0025719	https://raresource.nih.gov/literature/gene/MYORG	57462	ENSG00000164976	19918	https://pubmed.ncbi.nlm.nih.gov/?term=MYORG	None	None	5596	82
MYOT	myotilin	Myofibrillar myopathy 3?0016871	https://raresource.nih.gov/literature/gene/MYOT	9499	ENSG00000120729	12399	https://pubmed.ncbi.nlm.nih.gov/?term=MYOT	None	None	8057	287
MYOZ2	myozenin 2	Hypertrophic cardiomyopathy 16?0024927	https://raresource.nih.gov/literature/gene/MYOZ2	51778	ENSG00000172399	1330	https://pubmed.ncbi.nlm.nih.gov/?term=MYOZ2	None	None	17898	162
MYPN	myopalladin	Childhood-onset nemaline myopathy?0007171;Familial isolated dilated cardiomyopathy?0027293;Dilated cardiomyopathy 1KK?0015926;MYPN-related myopathy?0016222;Cap myopathy?0011915	https://raresource.nih.gov/literature/gene/MYPN	84665	ENSG00000138347	23246	https://pubmed.ncbi.nlm.nih.gov/?term=MYPN	None	None	41108	71
MYRF	myelin regulatory factor	Nanophthalmos 1?0018625;Tetralogy of Fallot?0002245;Cardiac-urogenital syndrome?0025712	https://raresource.nih.gov/literature/gene/MYRF	745	ENSG00000124920	1181	https://pubmed.ncbi.nlm.nih.gov/?term=MYRF	None	None	6796	520
MYSM1	Myb like, SWIRM and MPN domains 1	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome?0022071;Bone marrow failure syndrome 4?0025264	https://raresource.nih.gov/literature/gene/MYSM1	114803	ENSG00000162601	29401	https://pubmed.ncbi.nlm.nih.gov/?term=MYSM1	None	None	23939	85
MYT1L	myelin transcription factor 1 like	MYT1L-related developmental delay-intellectual disability-obesity syndrome?0026849	https://raresource.nih.gov/literature/gene/MYT1L	23040	ENSG00000186487	7623	https://pubmed.ncbi.nlm.nih.gov/?term=MYT1L	None	None	219732	176
MYZAP	myocardial zonula adherens protein	Cardiomyopathy, dilated, 2K?0027209	https://raresource.nih.gov/literature/gene/MYZAP	100820829	ENSG00000263155	43444	https://pubmed.ncbi.nlm.nih.gov/?term=MYZAP	None	None	56	40
NAA10	N-alpha-acetyltransferase 10, NatA catalytic subunit	Microphthalmia, syndromic 1?0015304;NAA10-related syndrome?0026055;Ogden syndrome?0017281;Lenz microphthalmia syndrome?0000087	https://raresource.nih.gov/literature/gene/NAA10	8260	ENSG00000102030	18704	https://pubmed.ncbi.nlm.nih.gov/?term=NAA10	None	None	1344	304
NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	Intellectual disability, autosomal dominant 50?0025661;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/NAA15	80155	ENSG00000164134	30782	https://pubmed.ncbi.nlm.nih.gov/?term=NAA15	None	None	41699	205
NAA20	N-alpha-acetyltransferase 20, NatB catalytic subunit	Autosomal recessive non-syndromic intellectual disability?0018643;Intellectual developmental disorder, autosomal recessive 73?0025596	https://raresource.nih.gov/literature/gene/NAA20	51126	ENSG00000173418	15908	https://pubmed.ncbi.nlm.nih.gov/?term=NAA20	None	None	5601	72
NAA60	N-alpha-acetyltransferase 60, NatF catalytic subunit	Bilateral striopallidodentate calcinosis?0006406;Basal ganglia calcification, idiopathic, 9, autosomal recessive?0027078	https://raresource.nih.gov/literature/gene/NAA60	79903	ENSG00000122390	25875	https://pubmed.ncbi.nlm.nih.gov/?term=NAA60	None	None	15096	54
NACC1	nucleus accumbens associated 1	NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability?0027073;Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination?0017930	https://raresource.nih.gov/literature/gene/NACC1	112939	ENSG00000160877	20967	https://pubmed.ncbi.nlm.nih.gov/?term=NACC1	None	None	7572	220
NADK2	NAD kinase 2, mitochondrial	Progressive encephalopathy with leukodystrophy due to DECR deficiency?0010327	https://raresource.nih.gov/literature/gene/NADK2	133686	ENSG00000152620	26404	https://pubmed.ncbi.nlm.nih.gov/?term=NADK2	None	None	19056	47
NADSYN1	NAD synthetase 1	Congenital vertebral-cardiac-renal anomalies syndrome?0017961;Vertebral, cardiac, renal, and limb defects syndrome 3?0018510	https://raresource.nih.gov/literature/gene/NADSYN1	55191	ENSG00000172890	29832	https://pubmed.ncbi.nlm.nih.gov/?term=NADSYN1	None	None	19278	190
NAF1	nuclear assembly factor 1 ribonucleoprotein	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7?0026800	https://raresource.nih.gov/literature/gene/NAF1	92345	ENSG00000145414	25126	https://pubmed.ncbi.nlm.nih.gov/?term=NAF1	None	None	20026	69
NAGA	alpha-N-acetylgalactosaminidase	Alpha-N-acetylgalactosaminidase deficiency type 3?0003903;Alpha-N-acetylgalactosaminidase deficiency type 1?0000116;Alpha-N-acetylgalactosaminidase deficiency type 2?0009161	https://raresource.nih.gov/literature/gene/NAGA	4668	ENSG00000198951	7631	https://pubmed.ncbi.nlm.nih.gov/?term=NAGA	None	None	4925	23
NAGLU	N-acetyl-alpha-glucosaminidase	Charcot-Marie-Tooth disease axonal type 2V?0017777;Mucopolysaccharidosis, MPS-III-B?0007072	https://raresource.nih.gov/literature/gene/NAGLU	4669	ENSG00000108784	7632	https://pubmed.ncbi.nlm.nih.gov/?term=NAGLU	None	None	4145	2653
NAGS	N-acetylglutamate synthase	Hyperammonemia, type III?0007158	https://raresource.nih.gov/literature/gene/NAGS	162417	ENSG00000161653	17996	https://pubmed.ncbi.nlm.nih.gov/?term=NAGS	None	None	2219	280
NALCN	sodium leak channel, non-selective	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1?0018457;Digitotalar dysmorphism?0000787;Sheldon-Hall syndrome?0016556;Congenital contractures of the limbs and face, hypotonia, and developmental delay?0016075	https://raresource.nih.gov/literature/gene/NALCN	259232	ENSG00000102452	19082	https://pubmed.ncbi.nlm.nih.gov/?term=NALCN	None	None	88428	203
NANOS1	nanos C2HC-type zinc finger 1	Spermatogenic failure 12?0015960	https://raresource.nih.gov/literature/gene/NANOS1	340719	ENSG00000188613	23044	https://pubmed.ncbi.nlm.nih.gov/?term=NANOS1	None	None	2119	1127
NANS	N-acetylneuraminate synthase	Spondyloepimetaphyseal dysplasia, Genevieve type?0010057	https://raresource.nih.gov/literature/gene/NANS	54187	ENSG00000095380	19237	https://pubmed.ncbi.nlm.nih.gov/?term=NANS	None	None	6657	221
NAPB	NSF attachment protein beta	Developmental and epileptic encephalopathy-107?0025687	https://raresource.nih.gov/literature/gene/NAPB	63908	ENSG00000125814	15751	https://pubmed.ncbi.nlm.nih.gov/?term=NAPB	None	None	12024	86
NARS1	asparaginyl-tRNA synthetase 1	Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities?0018535;Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities?0018534	https://raresource.nih.gov/literature/gene/NARS1	4677	ENSG00000134440	7643	https://pubmed.ncbi.nlm.nih.gov/?term=NARS1	None	None	9655	101
NARS2	asparaginyl-tRNA synthetase 2, mitochondrial	DEND syndrome?0016701;Hearing loss, autosomal recessive?0018117;Combined oxidative phosphorylation defect type 24?0017765;Hearing loss, autosomal recessive 94?0022661	https://raresource.nih.gov/literature/gene/NARS2	79731	ENSG00000137513	26274	https://pubmed.ncbi.nlm.nih.gov/?term=NARS2	None	None	38025	105
NAXD	NAD(P)HX dehydratase	NAD(P)HX dehydratase deficiency?0017990	https://raresource.nih.gov/literature/gene/NAXD	55739	ENSG00000213995	25576	https://pubmed.ncbi.nlm.nih.gov/?term=NAXD	None	None	9659	32
NAXE	NAD(P)HX epimerase	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1?0017991	https://raresource.nih.gov/literature/gene/NAXE	128240	ENSG00000163382	18453	https://pubmed.ncbi.nlm.nih.gov/?term=NAXE	None	None	2115	112
NBAS	NBAS subunit of NRZ tethering complex	Infantile liver failure syndrome 2?0013113;Infantile liver failure?0017820;Short stature-optic atrophy-Pelger-Huët anomaly syndrome?0010945	https://raresource.nih.gov/literature/gene/NBAS	51594	ENSG00000151779	15625	https://pubmed.ncbi.nlm.nih.gov/?term=NBAS	None	None	148342	2510
NBEA	neurobeachin	Neurodevelopmental disorder with or without early-onset generalized epilepsy?0018539;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/NBEA	26960	ENSG00000172915	7648	https://pubmed.ncbi.nlm.nih.gov/?term=NBEA	None	None	229066	103
NBEAL2	neurobeachin like 2	Gray platelet syndrome?0002562	https://raresource.nih.gov/literature/gene/NBEAL2	23218	ENSG00000160796	31928	https://pubmed.ncbi.nlm.nih.gov/?term=NBEAL2	None	None	13270	270
NBN	nibrin	Acute lymphoid leukemia?0000522;Microcephaly, normal intelligence and immunodeficiency?0003904;Aplastic anemia?0020234	https://raresource.nih.gov/literature/gene/NBN	4683	ENSG00000104320	7652	https://pubmed.ncbi.nlm.nih.gov/?term=NBN	None	None	32481	2345
NCAPD2	non-SMC condensin I complex subunit D2	Microcephaly 21, primary, autosomal recessive?0016278	https://raresource.nih.gov/literature/gene/NCAPD2	9918	ENSG00000010292	24305	https://pubmed.ncbi.nlm.nih.gov/?term=NCAPD2	None	None	16284	63
NCAPD3	non-SMC condensin II complex subunit D3	Autosomal recessive primary microcephaly?0012117;Microcephaly 22, primary, autosomal recessive?0016279	https://raresource.nih.gov/literature/gene/NCAPD3	23310	ENSG00000151503	28952	https://pubmed.ncbi.nlm.nih.gov/?term=NCAPD3	None	None	31952	57
NCAPH	non-SMC condensin I complex subunit H	Microcephaly 23, primary, autosomal recessive?0016280	https://raresource.nih.gov/literature/gene/NCAPH	23397	ENSG00000121152	1112	https://pubmed.ncbi.nlm.nih.gov/?term=NCAPH	None	None	16332	103
NCDN	neurochondrin	Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/NCDN	23154	ENSG00000020129	17597	https://pubmed.ncbi.nlm.nih.gov/?term=NCDN	None	None	4153	70
NCF1	neutrophil cytosolic factor 1	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1?0015176;Chronic granulomatous disease?0006100	https://raresource.nih.gov/literature/gene/NCF1	653361	ENSG00000158517	7660	https://pubmed.ncbi.nlm.nih.gov/?term=NCF1	None	None	6262	1976
NCF2	neutrophil cytosolic factor 2	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2?0015177;Chronic granulomatous disease?0006100	https://raresource.nih.gov/literature/gene/NCF2	4688	ENSG00000116701	7661	https://pubmed.ncbi.nlm.nih.gov/?term=NCF2	None	None	13723	933
NCF4	neutrophil cytosolic factor 4	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3?0015736;Chronic granulomatous disease?0006100	https://raresource.nih.gov/literature/gene/NCF4	4689	ENSG00000100365	7662	https://pubmed.ncbi.nlm.nih.gov/?term=NCF4	None	None	6376	393
NCKAP1L	NCK associated protein 1 like	Familial hyperinflammatory lymphoproliferative immunodeficiency?0022466	https://raresource.nih.gov/literature/gene/NCKAP1L	3071	ENSG00000123338	4862	https://pubmed.ncbi.nlm.nih.gov/?term=NCKAP1L	None	None	13263	89
NCSTN	nicastrin	Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome?0021139	https://raresource.nih.gov/literature/gene/NCSTN	23385	ENSG00000162736	17091	https://pubmed.ncbi.nlm.nih.gov/?term=NCSTN	None	None	7109	609
NDE1	nudE neurodevelopment protein 1	Microcephaly with lissencephaly and/or hydranencephaly?0026362;Lissencephaly 4?0024934;NDE1-related microhydranencephaly?0010216;Hydranencephaly?0006681	https://raresource.nih.gov/literature/gene/NDE1	54820	ENSG00000072864	17619	https://pubmed.ncbi.nlm.nih.gov/?term=NDE1	None	None	19136	228
NDNF	neuron derived neurotrophic factor	Hypogonadism with anosmia?0010771;Hypogonadotropic hypogonadism 25 with anosmia?0016387	https://raresource.nih.gov/literature/gene/NDNF	79625	ENSG00000173376	26256	https://pubmed.ncbi.nlm.nih.gov/?term=NDNF	None	None	14879	106
NDP	norrin cystine knot growth factor NDP	Familial exudative vitreoretinopathy?0001613;Persistent hyperplastic primary vitreous?0016803;Exudative vitreoretinopathy 2, X-linked?0015292;Atrophia bulborum hereditaria?0007224	https://raresource.nih.gov/literature/gene/NDP	4693	ENSG00000124479	7678	https://pubmed.ncbi.nlm.nih.gov/?term=NDP	None	None	5327	1136
NDRG1	N-myc downstream regulated 1	Charcot-Marie-Tooth disease type 4D?0003973	https://raresource.nih.gov/literature/gene/NDRG1	10397	ENSG00000104419	7679	https://pubmed.ncbi.nlm.nih.gov/?term=NDRG1	None	None	24383	1290
NDST1	N-deacetylase and N-sulfotransferase 1	Intellectual disability, autosomal recessive 46?0022568;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/NDST1	3340	ENSG00000070614	7680	https://pubmed.ncbi.nlm.nih.gov/?term=NDST1	None	None	27335	241
NDUFA1	NADH:ubiquinone oxidoreductase subunit A1	Mitochondrial complex I deficiency, nuclear type 12?0015283;Mitochondrial complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFA1	4694	ENSG00000125356	7683	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFA1	None	None	1577	87
NDUFA10	NADH:ubiquinone oxidoreductase subunit A10	Mitochondrial complex I deficiency, nuclear type 22?0018373	https://raresource.nih.gov/literature/gene/NDUFA10	4705	ENSG00000130414	7684	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFA10	None	None	27591	66
NDUFA11	NADH:ubiquinone oxidoreductase subunit A11	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 14?0016322	https://raresource.nih.gov/literature/gene/NDUFA11	126328	ENSG00000174886	20371	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFA11	None	None	4673	54
NDUFA12	NADH:ubiquinone oxidoreductase subunit A12	Mitochondrial complex I deficiency, nuclear type 23?0018374	https://raresource.nih.gov/literature/gene/NDUFA12	55967	ENSG00000184752	23987	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFA12	None	None	16531	54
NDUFA13	NADH:ubiquinone oxidoreductase subunit A13	Differentiated thyroid carcinoma?0012027;Hurthle cell carcinoma of thyroid?0009428;Mitochondrial complex I deficiency, nuclear type 28?0018376	https://raresource.nih.gov/literature/gene/NDUFA13	51079	ENSG00000186010	17194	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFA13	None	None	80	226
NDUFA2	NADH:ubiquinone oxidoreductase subunit A2	Mitochondrial complex I deficiency, nuclear type 13?0018371	https://raresource.nih.gov/literature/gene/NDUFA2	4695	ENSG00000131495	7685	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFA2	None	None	1262	12725
NDUFA4	NDUFA4 mitochondrial complex associated	Mitochondrial complex IV deficiency, nuclear type 21?0016418	https://raresource.nih.gov/literature/gene/NDUFA4	4697	ENSG00000189043	7687	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFA4	None	None	5295	21
NDUFA6	NADH:ubiquinone oxidoreductase subunit A6	Mitochondrial complex I deficiency, nuclear type 33?0016332;Mitochondrial complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFA6	4700	ENSG00000184983	7690	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFA6	None	None	3359	158
NDUFA8	NADH:ubiquinone oxidoreductase subunit A8	Mitochondrial complex I deficiency, nuclear type 37?0016440	https://raresource.nih.gov/literature/gene/NDUFA8	4702	ENSG00000119421	7692	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFA8	None	None	6220	1490
NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	Mitochondrial complex I deficiency, nuclear type 26?0025709	https://raresource.nih.gov/literature/gene/NDUFA9	4704	ENSG00000139180	7693	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFA9	None	None	85	102
NDUFAF1	NADH:ubiquinone oxidoreductase complex assembly factor 1	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 11?0016321	https://raresource.nih.gov/literature/gene/NDUFAF1	51103	ENSG00000137806	18828	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFAF1	None	None	7231	42
NDUFAF2	NADH:ubiquinone oxidoreductase complex assembly factor 2	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 10?0016320	https://raresource.nih.gov/literature/gene/NDUFAF2	91942	ENSG00000164182	28086	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFAF2	None	None	76465	61
NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 18?0016325	https://raresource.nih.gov/literature/gene/NDUFAF3	25915	ENSG00000178057	29918	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFAF3	None	None	794	80
NDUFAF4	NADH:ubiquinone oxidoreductase complex assembly factor 4	Mitochondrial complex I deficiency, nuclear type 15?0016323;Mitochondrial complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFAF4	29078	ENSG00000123545	21034	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFAF4	None	None	4474	26
NDUFAF5	NADH:ubiquinone oxidoreductase complex assembly factor 5	Mitochondrial complex I deficiency, nuclear type 16?0016324;Mitochondrial complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFAF5	79133	ENSG00000101247	15899	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFAF5	None	None	8867	40
NDUFAF6	NADH:ubiquinone oxidoreductase complex assembly factor 6	Primary Fanconi syndrome?0009118;Fanconi renotubular syndrome 5?0016392;Mitochondrial complex I deficiency, nuclear type 17?0018372	https://raresource.nih.gov/literature/gene/NDUFAF6	137682	ENSG00000156170	28625	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFAF6	None	None	73385	48
NDUFAF8	NADH:ubiquinone oxidoreductase complex assembly factor 8	Mitochondrial complex I deficiency, nuclear type 34?0016378;Mitochondrial complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFAF8	284184	ENSG00000224877	33551	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFAF8	None	None	1719	5
NDUFB10	NADH:ubiquinone oxidoreductase subunit B10	Mitochondrial complex I deficiency?0003908;Mitochondrial complex 1 deficiency, nuclear type 35?0016401	https://raresource.nih.gov/literature/gene/NDUFB10	4716	ENSG00000140990	7696	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFB10	None	None	2468	38
NDUFB11	NADH:ubiquinone oxidoreductase subunit B11	Linear skin defects with multiple congenital anomalies 1?0025427;Mitochondrial complex I deficiency, nuclear type 30?0015284;Linear skin defects with multiple congenital anomalies 3?0015276;Linear skin defects with multiple congenital anomalies?0003659	https://raresource.nih.gov/literature/gene/NDUFB11	54539	ENSG00000147123	20372	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFB11	None	None	1257	61
NDUFB3	NADH:ubiquinone oxidoreductase subunit B3	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 25?0016329	https://raresource.nih.gov/literature/gene/NDUFB3	4709	ENSG00000119013	7698	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFB3	None	None	6191	424
NDUFB7	NADH:ubiquinone oxidoreductase subunit B7	Mitochondrial complex I deficiency, nuclear type 39?0026696	https://raresource.nih.gov/literature/gene/NDUFB7	4713	ENSG00000099795	7702	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFB7	None	None	2582	187
NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	Mitochondrial complex I deficiency, nuclear type 32?0018067	https://raresource.nih.gov/literature/gene/NDUFB8	4714	ENSG00000166136	7703	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFB8	None	None	2688	139
NDUFB9	NADH:ubiquinone oxidoreductase subunit B9	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 24?0016328	https://raresource.nih.gov/literature/gene/NDUFB9	4715	ENSG00000147684	7704	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFB9	None	None	4483	82
NDUFC2	NADH:ubiquinone oxidoreductase subunit C2	Mitochondrial complex I deficiency, nuclear type 36?0016431	https://raresource.nih.gov/literature/gene/NDUFC2	4718	ENSG00000151366	7706	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFC2	None	None	106	39
NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 5?0016315	https://raresource.nih.gov/literature/gene/NDUFS1	4719	ENSG00000023228	7707	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFS1	None	None	19950	189
NDUFS2	NADH:ubiquinone oxidoreductase core subunit S2	Mitochondrial complex I deficiency, nuclear type 6?0016316;Mitochondrial complex I deficiency?0003908;Leber-like hereditary optic neuropathy, autosomal recessive 2?0026970	https://raresource.nih.gov/literature/gene/NDUFS2	4720	ENSG00000158864	7708	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFS2	None	None	5932	127
NDUFS3	NADH:ubiquinone oxidoreductase core subunit S3	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 8?0016318	https://raresource.nih.gov/literature/gene/NDUFS3	4722	ENSG00000213619	7710	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFS3	None	None	2393	148
NDUFS4	NADH:ubiquinone oxidoreductase subunit S4	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 1?0015201	https://raresource.nih.gov/literature/gene/NDUFS4	4724	ENSG00000164258	7711	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFS4	None	None	48777	303
NDUFS6	NADH:ubiquinone oxidoreductase subunit S6	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 9?0016319	https://raresource.nih.gov/literature/gene/NDUFS6	4726	ENSG00000145494	7713	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFS6	None	None	7871	59
NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 3?0016313	https://raresource.nih.gov/literature/gene/NDUFS7	374291	ENSG00000115286	7714	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFS7	None	None	5271	164
NDUFS8	NADH:ubiquinone oxidoreductase core subunit S8	Mitochondrial complex I deficiency, nuclear type 2?0016312;Mitochondrial complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFS8	4728	ENSG00000110717	7715	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFS8	None	None	3129	103
NDUFV1	NADH:ubiquinone oxidoreductase core subunit V1	Mitochondrial complex I deficiency, nuclear type 4?0016314;Mitochondrial complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFV1	4723	ENSG00000167792	7716	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFV1	None	None	3461	148
NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	Mitochondrial complex I deficiency, nuclear type 7?0016317;Mitochondrial complex I deficiency?0003908;Progressive cavitating leukoencephalopathy?0019918	https://raresource.nih.gov/literature/gene/NDUFV2	4729	ENSG00000178127	7717	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFV2	None	None	8236	129
NEB	nebulin	Severe congenital nemaline myopathy?0012821;Autosomal dominant nebulin-related myopathy?0027566;Nemaline myopathy 2?0015209;Childhood-onset nemaline myopathy?0007171;Arthrogryposis multiplex congenita 6?0025528;Typical nemaline myopathy?0012822;Nebulin-related early-onset distal myopathy?0021656;Intermediate nemaline myopathy?0012823	https://raresource.nih.gov/literature/gene/NEB	4703	ENSG00000183091	7720	https://pubmed.ncbi.nlm.nih.gov/?term=NEB	None	None	93625	642
NECAP1	NECAP endocytosis associated 1	Developmental and epileptic encephalopathy, 21?0016017;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/NECAP1	25977	ENSG00000089818	24539	https://pubmed.ncbi.nlm.nih.gov/?term=NECAP1	None	None	6520	16
NECTIN1	nectin cell adhesion molecule 1	Cleft lip/palate-ectodermal dysplasia syndrome?0000375	https://raresource.nih.gov/literature/gene/NECTIN1	5818	ENSG00000110400	9706	https://pubmed.ncbi.nlm.nih.gov/?term=NECTIN1	None	None	26287	1514
NECTIN4	nectin cell adhesion molecule 4	Ectodermal dysplasia-syndactyly syndrome 1?0025433;Ectodermal dysplasia-syndactyly syndrome?0017198	https://raresource.nih.gov/literature/gene/NECTIN4	81607	ENSG00000143217	19688	https://pubmed.ncbi.nlm.nih.gov/?term=NECTIN4	None	None	7484	622
NEDD4L	NEDD4 like E3 ubiquitin protein ligase	Periventricular nodular heterotopia 7?0016210;Periventricular nodular heterotopia?0012724	https://raresource.nih.gov/literature/gene/NEDD4L	23327	ENSG00000049759	7728	https://pubmed.ncbi.nlm.nih.gov/?term=NEDD4L	None	None	87991	1025
NEFH	neurofilament heavy chain	Charcot-Marie-Tooth disease axonal type 2CC?0025022	https://raresource.nih.gov/literature/gene/NEFH	4744	ENSG00000100285	7737	https://pubmed.ncbi.nlm.nih.gov/?term=NEFH	None	None	5179	1247
NEFL	neurofilament light chain	Charcot-Marie-Tooth disease type 2B5?0017153;Charcot-Marie-Tooth disease, dominant intermediate G?0025819;Charcot-Marie-Tooth disease type 1F?0009191;Charcot-Marie-Tooth disease type 2E?0009193	https://raresource.nih.gov/literature/gene/NEFL	4747	ENSG00000277586	7739	https://pubmed.ncbi.nlm.nih.gov/?term=NEFL	None	None	4154	5517
NEK1	NIMA related kinase 1	Short-rib thoracic dysplasia 6 with or without polydactyly?0015224;Short rib-polydactyly syndrome, Majewski type?0004833;Mohr syndrome?0003701	https://raresource.nih.gov/literature/gene/NEK1	4750	ENSG00000137601	7744	https://pubmed.ncbi.nlm.nih.gov/?term=NEK1	None	None	85577	480
NEK10	NIMA related kinase 10	Ciliary dyskinesia, primary, 44?0016380;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/NEK10	152110	ENSG00000163491	18592	https://pubmed.ncbi.nlm.nih.gov/?term=NEK10	None	None	96290	45
NEK2	NIMA related kinase 2	Retinitis pigmentosa 67?0015988	https://raresource.nih.gov/literature/gene/NEK2	4751	ENSG00000117650	7745	https://pubmed.ncbi.nlm.nih.gov/?term=NEK2	None	None	6952	571
NEK8	NIMA related kinase 8	Renal-hepatic-pancreatic dysplasia 2?0018432;Polycystic kidney disease 8?0027211;Nephronophthisis 9?0024926;Renal-hepatic-pancreatic dysplasia?0017356	https://raresource.nih.gov/literature/gene/NEK8	284086	ENSG00000160602	13387	https://pubmed.ncbi.nlm.nih.gov/?term=NEK8	None	None	5137	98
NEK9	NIMA related kinase 9	Nevus comedonicus syndrome?0013073;NEK9-related lethal skeletal dysplasia?0017818	https://raresource.nih.gov/literature/gene/NEK9	91754	ENSG00000119638	18591	https://pubmed.ncbi.nlm.nih.gov/?term=NEK9	None	None	12047	897
NEMF	nuclear export mediator factor	Autosomal recessive non-syndromic intellectual disability?0018643;Intellectual developmental disorder with speech delay and axonal peripheral neuropathy?0018536	https://raresource.nih.gov/literature/gene/NEMF	9147	ENSG00000165525	10663	https://pubmed.ncbi.nlm.nih.gov/?term=NEMF	None	None	28311	59
NEU1	neuraminidase 1	Sialidosis type 1?0007639;Congenital sialidosis type 2?0019184;Juvenile sialidosis type 2?0019183;Sialidosis type 2?0007183	https://raresource.nih.gov/literature/gene/NEU1	4758	ENSG00000204386	7758	https://pubmed.ncbi.nlm.nih.gov/?term=NEU1	None	None	2800	8428
NEUROD1	neuronal differentiation 1	Maturity-onset diabetes of the young type 6?0010660;Maturity onset diabetes mellitus in young?0003697	https://raresource.nih.gov/literature/gene/NEUROD1	4760	ENSG00000162992	7762	https://pubmed.ncbi.nlm.nih.gov/?term=NEUROD1	None	None	3636	3194
NEUROD2	neuronal differentiation 2	Developmental and epileptic encephalopathy, 72?0025725	https://raresource.nih.gov/literature/gene/NEUROD2	4761	ENSG00000171532	7763	https://pubmed.ncbi.nlm.nih.gov/?term=NEUROD2	None	None	3208	157
NEUROG3	neurogenin 3	Congenital malabsorptive diarrhea 4?0016729	https://raresource.nih.gov/literature/gene/NEUROG3	50674	ENSG00000122859	13806	https://pubmed.ncbi.nlm.nih.gov/?term=NEUROG3	None	None	1708	963
NEXMIF	neurite extension and migration factor	X-linked intellectual disability, Cantagrel type?0016743	https://raresource.nih.gov/literature/gene/NEXMIF	340533	ENSG00000050030	29433	https://pubmed.ncbi.nlm.nih.gov/?term=NEXMIF	None	None	38450	63
NEXN	nexilin F-actin binding protein	Dilated cardiomyopathy 1CC?0015621;Familial isolated dilated cardiomyopathy?0027293;Hypertrophic cardiomyopathy 20?0024932	https://raresource.nih.gov/literature/gene/NEXN	91624	ENSG00000162614	29557	https://pubmed.ncbi.nlm.nih.gov/?term=NEXN	None	None	24417	104
NF1	neurofibromin 1	Neurofibromatosis-Noonan syndrome?0000372;Tetralogy of Fallot?0002245;Juvenile myelomonocytic leukemia?0009884;Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion?0017570;Pleomorphic rhabdomyosarcoma?0021165;Café-au-lait macules with pulmonary stenosis?0005540;Neurofibromatosis, type 1?0007866;Neurofibromatosis, familial spinal?0024599	https://raresource.nih.gov/literature/gene/NF1	4763	ENSG00000196712	7765	https://pubmed.ncbi.nlm.nih.gov/?term=NF1	None	None	93303	5187
NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	Familial meningioma?0018385;Neurofibromatosis, type 2?0007193;Meningioma?0007015;Mosaic NF2-related schwannomatosis?0026765	https://raresource.nih.gov/literature/gene/NF2	4771	ENSG00000186575	7773	https://pubmed.ncbi.nlm.nih.gov/?term=NF2	None	None	32256	152
NFATC1	nuclear factor of activated T cells 1	NFATC1-related combined immunodeficiency?0027571	https://raresource.nih.gov/literature/gene/NFATC1	4772	ENSG00000131196	7775	https://pubmed.ncbi.nlm.nih.gov/?term=NFATC1	None	None	56353	3723
NFE2L2	NFE2 like bZIP transcription factor 2	Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome?0022468	https://raresource.nih.gov/literature/gene/NFE2L2	4780	ENSG00000116044	7782	https://pubmed.ncbi.nlm.nih.gov/?term=NFE2L2	None	None	55802	38161
NFIX	nuclear factor I X	Marshall-Smith syndrome?0006985;Malan overgrowth syndrome?0013811	https://raresource.nih.gov/literature/gene/NFIX	4784	ENSG00000008441	7788	https://pubmed.ncbi.nlm.nih.gov/?term=NFIX	None	None	28277	666
NFKB1	nuclear factor kappa B subunit 1	Immunodeficiency, common variable, 12?0016141	https://raresource.nih.gov/literature/gene/NFKB1	4790	ENSG00000109320	7794	https://pubmed.ncbi.nlm.nih.gov/?term=NFKB1	None	None	44868	37498
NFKB2	nuclear factor kappa B subunit 2	Immunodeficiency, common variable, 10?0015990;Deficiency in anterior pituitary function - variable immunodeficiency syndrome?0017353	https://raresource.nih.gov/literature/gene/NFKB2	4791	ENSG00000077150	7795	https://pubmed.ncbi.nlm.nih.gov/?term=NFKB2	None	None	5002	1948
NFKBIA	NFKB inhibitor alpha	Ectodermal dysplasia and immune deficiency?0009936;Ectodermal dysplasia and immunodeficiency 2?0015542	https://raresource.nih.gov/literature/gene/NFKBIA	4792	ENSG00000100906	7797	https://pubmed.ncbi.nlm.nih.gov/?term=NFKBIA	None	None	3012	1019
NFS1	NFS1 cysteine desulfurase	Combined oxidative phosphorylation deficiency 52?0025533;Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency?0027545	https://raresource.nih.gov/literature/gene/NFS1	9054	ENSG00000244005	15910	https://pubmed.ncbi.nlm.nih.gov/?term=NFS1	None	None	11706	592
NFU1	NFU1 iron-sulfur cluster scaffold	Spastic paraplegia 93, autosomal recessive?0027316;Multiple mitochondrial dysfunctions syndrome 1?0017661	https://raresource.nih.gov/literature/gene/NFU1	27247	ENSG00000169599	16287	https://pubmed.ncbi.nlm.nih.gov/?term=NFU1	None	None	20945	224
NGF	nerve growth factor	Congenital sensory neuropathy with selective loss of small myelinated fibers?0012328	https://raresource.nih.gov/literature/gene/NGF	4803	ENSG00000134259	7808	https://pubmed.ncbi.nlm.nih.gov/?term=NGF	None	None	20178	22520
NGLY1	N-glycanase 1	Congenital disorder of deglycosylation 1?0012315	https://raresource.nih.gov/literature/gene/NGLY1	55768	ENSG00000151092	17646	https://pubmed.ncbi.nlm.nih.gov/?term=NGLY1	None	None	28476	397
NHEJ1	non-homologous end joining factor 1	Microphthalmia/coloboma 13?0027322;Cernunnos-XLF deficiency?0017045	https://raresource.nih.gov/literature/gene/NHEJ1	79840	ENSG00000187736	25737	https://pubmed.ncbi.nlm.nih.gov/?term=NHEJ1	None	None	31701	276
NHERF1	NHERF family PDZ scaffold protein 1	Hypophosphatemic nephrolithiasis/osteoporosis 2?0018347	https://raresource.nih.gov/literature/gene/NHERF1	9368	ENSG00000109062	11075	https://pubmed.ncbi.nlm.nih.gov/?term=NHERF1	None	None	None	738
NHLH2	nescient helix-loop-helix 2	Hypogonadotropic hypogonadism 27 without anosmia?0025611;Hypogonadotropic hypogonadism?0016533	https://raresource.nih.gov/literature/gene/NHLH2	4808	ENSG00000177551	7818	https://pubmed.ncbi.nlm.nih.gov/?term=NHLH2	None	None	4299	80
NHLRC1	NHL repeat containing E3 ubiquitin protein ligase 1	Myoclonic epilepsy of Lafora 2?0026491;Lafora disease?0008214	https://raresource.nih.gov/literature/gene/NHLRC1	378884	ENSG00000187566	21576	https://pubmed.ncbi.nlm.nih.gov/?term=NHLRC1	None	None	2554	303
NHLRC2	NHL repeat containing 2	Fibrosis, neurodegeneration, and cerebral angiomatosis?0027522	https://raresource.nih.gov/literature/gene/NHLRC2	374354	ENSG00000196865	24731	https://pubmed.ncbi.nlm.nih.gov/?term=NHLRC2	None	None	21157	30
NHP2	NHP2 ribonucleoprotein	Dyskeratosis congenita?0010905;Dyskeratosis congenita, autosomal recessive 2?0015739;Dyskeratosis congenita, autosomal recessive 1?0006300	https://raresource.nih.gov/literature/gene/NHP2	55651	ENSG00000145912	14377	https://pubmed.ncbi.nlm.nih.gov/?term=NHP2	None	None	2519	128
NHS	NHS actin remodeling regulator	Nance-Horan syndrome?0007161;Cataract 40?0008278;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/NHS	4810	ENSG00000188158	7820	https://pubmed.ncbi.nlm.nih.gov/?term=NHS	None	None	54722	143
NID1	nidogen 1	Isolated Dandy-Walker malformation without hydrocephalus?0020994	https://raresource.nih.gov/literature/gene/NID1	4811	ENSG00000116962	7821	https://pubmed.ncbi.nlm.nih.gov/?term=NID1	None	None	35452	658
NIN	ninein	Seckel syndrome 7?0017469	https://raresource.nih.gov/literature/gene/NIN	51199	ENSG00000100503	14906	https://pubmed.ncbi.nlm.nih.gov/?term=NIN	None	None	35457	452
NIPA1	NIPA magnesium transporter 1	Hereditary spastic paraplegia 6?0004928	https://raresource.nih.gov/literature/gene/NIPA1	123606	ENSG00000170113	17043	https://pubmed.ncbi.nlm.nih.gov/?term=NIPA1	None	None	21459	150
NIPAL4	NIPA like domain containing 4	Autosomal recessive congenital ichthyosis 6?0015547;Congenital nonbullous ichthyosiform erythroderma?0009736;Lamellar ichthyosis?0010803	https://raresource.nih.gov/literature/gene/NIPAL4	348938	ENSG00000172548	28018	https://pubmed.ncbi.nlm.nih.gov/?term=NIPAL4	None	None	5240	59
NIPBL	NIPBL cohesin loading factor	De Lange syndrome?0010109;Cornelia de Lange syndrome 1?0024555	https://raresource.nih.gov/literature/gene/NIPBL	25836	ENSG00000164190	28862	https://pubmed.ncbi.nlm.nih.gov/?term=NIPBL	None	None	72829	499
NKAP	NFKB activating protein	Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type?0025488	https://raresource.nih.gov/literature/gene/NKAP	79576	ENSG00000101882	29873	https://pubmed.ncbi.nlm.nih.gov/?term=NKAP	None	None	5068	79
NKX2-1	NK2 homeobox 1	Chorea?0015152;Thyroid cancer, nonmedullary, 1?0024632;Brain-lung-thyroid syndrome?0012163;Benign hereditary chorea?0025275	https://raresource.nih.gov/literature/gene/NKX2-1	7080	ENSG00000136352	11825	https://pubmed.ncbi.nlm.nih.gov/?term=NKX2-1	None	None	3349	4923
NKX2-5	NK2 homeobox 5	Atrial septal defect, ostium secundum type?0005865;NKX2.5-related congenital, conduction and myopathic heart disease?0026559;Hypoplastic left heart syndrome 2?0015803;Tetralogy of Fallot?0002245;Ectopic thyroid?0016841;Familial atrial fibrillation?0009740;Familial bicuspid aortic valve?0017670;Atrial septal defect 7?0016566;Conotruncal heart malformations?0008189;Hypothyroidism, congenital, nongoitrous, 5?0015165;Thyroid agenesis?0016842	https://raresource.nih.gov/literature/gene/NKX2-5	1482	ENSG00000183072	2488	https://pubmed.ncbi.nlm.nih.gov/?term=NKX2-5	None	None	3561	1948
NKX2-6	NK2 homeobox 6	Conotruncal heart malformations?0008189;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/NKX2-6	137814	ENSG00000180053	32940	https://pubmed.ncbi.nlm.nih.gov/?term=NKX2-6	None	None	4332	29
NKX3-2	NK3 homeobox 2	Spondylo-megaepiphyseal-metaphyseal dysplasia?0017154	https://raresource.nih.gov/literature/gene/NKX3-2	579	ENSG00000109705	951	https://pubmed.ncbi.nlm.nih.gov/?term=NKX3-2	None	None	3301	135
NKX6-2	NK6 homeobox 2	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy?0017964	https://raresource.nih.gov/literature/gene/NKX6-2	84504	ENSG00000148826	19321	https://pubmed.ncbi.nlm.nih.gov/?term=NKX6-2	None	None	2500	123
NLRC4	NLR family CARD domain containing 4	Periodic fever-infantile enterocolitis-autoinflammatory syndrome?0017725;Familial cold autoinflammatory syndrome 4?0016061	https://raresource.nih.gov/literature/gene/NLRC4	58484	ENSG00000091106	16412	https://pubmed.ncbi.nlm.nih.gov/?term=NLRC4	None	None	20218	1210
NLRP1	NLR family pyrin domain containing 1	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome?0017525	https://raresource.nih.gov/literature/gene/NLRP1	22861	ENSG00000091592	14374	https://pubmed.ncbi.nlm.nih.gov/?term=NLRP1	None	None	36789	2524
NLRP12	NLR family pyrin domain containing 12	Familial cold autoinflammatory syndrome 2?0017201	https://raresource.nih.gov/literature/gene/NLRP12	91662	ENSG00000142405	22938	https://pubmed.ncbi.nlm.nih.gov/?term=NLRP12	None	None	15533	347
NLRP3	NLR family pyrin domain containing 3	Familial cold autoinflammatory syndrome?0009535;Familial cold autoinflammatory syndrome 1?0015051;Familial amyloid nephropathy with urticaria AND deafness?0008472;Chronic infantile neurological, cutaneous and articular syndrome?0001356;Hearing loss, autosomal dominant 34, with or without inflammation?0025790;Keratitis fugax hereditaria?0024580	https://raresource.nih.gov/literature/gene/NLRP3	114548	ENSG00000162711	16400	https://pubmed.ncbi.nlm.nih.gov/?term=NLRP3	None	None	15593	35099
NLRP7	NLR family pyrin domain containing 7	Hydatidiform mole, recurrent, 1?0018365;Complete hydatidiform mole?0017224;Partial hydatidiform mole?0020749	https://raresource.nih.gov/literature/gene/NLRP7	199713	ENSG00000167634	22947	https://pubmed.ncbi.nlm.nih.gov/?term=NLRP7	None	None	17087	198
NME5	NME/NM23 family member 5	Ciliary dyskinesia, primary, 48, without situs inversus?0025686;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/NME5	8382	ENSG00000112981	7853	https://pubmed.ncbi.nlm.nih.gov/?term=NME5	None	None	9715	43
NME7	NME/NM23 family member 7	Situs inversus?0004883	https://raresource.nih.gov/literature/gene/NME7	29922	ENSG00000143156	20461	https://pubmed.ncbi.nlm.nih.gov/?term=NME7	None	None	83529	43
NME8	NME/NM23 family member 8	Primary ciliary dyskinesia 6?0015502;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/NME8	51314	ENSG00000086288	16473	https://pubmed.ncbi.nlm.nih.gov/?term=NME8	None	None	18864	54
NMNAT1	nicotinamide nucleotide adenylyltransferase 1	Leber congenital amaurosis 9?0009491;Cone-rod dystrophy?0010790;NMNAT1-related retinopathy?0026434;Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis?0018025;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/NMNAT1	64802	ENSG00000173614	17877	https://pubmed.ncbi.nlm.nih.gov/?term=NMNAT1	None	None	18199	353
NNT	nicotinamide nucleotide transhydrogenase	Familial glucocorticoid deficiency?0002498;Glucocorticoid deficiency 4?0015840	https://raresource.nih.gov/literature/gene/NNT	23530	ENSG00000112992	7863	https://pubmed.ncbi.nlm.nih.gov/?term=NNT	None	None	38307	469
NOBOX	NOBOX oogenesis homeobox	Premature ovarian failure 5?0024882	https://raresource.nih.gov/literature/gene/NOBOX	135935	ENSG00000106410	22448	https://pubmed.ncbi.nlm.nih.gov/?term=NOBOX	None	None	6756	172
NOD2	nucleotide binding oligomerization domain containing 2	Blau syndrome?0000304;Inflammatory bowel disease 1?0009857	https://raresource.nih.gov/literature/gene/NOD2	64127	ENSG00000167207	5331	https://pubmed.ncbi.nlm.nih.gov/?term=NOD2	None	None	10950	5389
NODAL	nodal growth differentiation factor	Lobar holoprosencephaly?0016830;Tetralogy of Fallot?0002245;Microform holoprosencephaly?0017290;Situs inversus?0004883;Heterotaxy, visceral, 5, autosomal?0026361;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/NODAL	4838	ENSG00000156574	7865	https://pubmed.ncbi.nlm.nih.gov/?term=NODAL	None	None	4943	2166
NOG	noggin	Brachydactyly type B2?0016963;Multiple synostosis syndrome?0003836;Proximal symphalangism 1A?0025229;Symphalangism-brachydactyly syndrome?0015115;Stapes ankylosis with broad thumbs and toes?0012631;Tarsal-carpal coalition syndrome?0009225;Proximal symphalangism?0008182	https://raresource.nih.gov/literature/gene/NOG	9241	ENSG00000183691	7866	https://pubmed.ncbi.nlm.nih.gov/?term=NOG	None	None	2561	2054
NOL3	nucleolar protein 3	Myoclonus, familial?0017444;Myoclonus, familial, 1?0026043	https://raresource.nih.gov/literature/gene/NOL3	8996	ENSG00000140939	7869	https://pubmed.ncbi.nlm.nih.gov/?term=NOL3	None	None	1733	2674
NONO	non-POU domain containing octamer binding	Syndromic X-linked intellectual disability 34?0017832;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/NONO	4841	ENSG00000147140	7871	https://pubmed.ncbi.nlm.nih.gov/?term=NONO	None	None	4169	881
NOP10	NOP10 ribonucleoprotein	Dyskeratosis congenita?0010905;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9?0026813	https://raresource.nih.gov/literature/gene/NOP10	55505	ENSG00000182117	14378	https://pubmed.ncbi.nlm.nih.gov/?term=NOP10	None	None	1124	121
NOP56	NOP56 ribonucleoprotein	Spinocerebellar ataxia type 36?0012367	https://raresource.nih.gov/literature/gene/NOP56	10528	ENSG00000101361	15911	https://pubmed.ncbi.nlm.nih.gov/?term=NOP56	None	None	3065	167
NOS1	nitric oxide synthase 1	Idiopathic achalasia?0005708	https://raresource.nih.gov/literature/gene/NOS1	4842	ENSG00000089250	7872	https://pubmed.ncbi.nlm.nih.gov/?term=NOS1	None	None	82892	18431
NOS1AP	nitric oxide synthase 1 adaptor protein	Nephrotic syndrome, type 22?0016428	https://raresource.nih.gov/literature/gene/NOS1AP	9722	ENSG00000198929	16859	https://pubmed.ncbi.nlm.nih.gov/?term=NOS1AP	None	None	104315	263
NOS2	nitric oxide synthase 2	Malaria?0006961	https://raresource.nih.gov/literature/gene/NOS2	4843	ENSG00000007171	7873	https://pubmed.ncbi.nlm.nih.gov/?term=NOS2	None	None	11561	46553
NOS3	nitric oxide synthase 3	Alzheimer disease type 1?0009465;Preeclampsia/eclampsia 1?0018389	https://raresource.nih.gov/literature/gene/NOS3	4846	ENSG00000164867	7876	https://pubmed.ncbi.nlm.nih.gov/?term=NOS3	None	None	11889	20061
NOTCH1	notch receptor 1	Tetralogy of Fallot?0002245;Familial bicuspid aortic valve?0017670;Adams-Oliver syndrome?0005739;Adams-Oliver syndrome 5?0016049;Aortic valve disease 1?0018470	https://raresource.nih.gov/literature/gene/NOTCH1	4851	ENSG00000148400	7881	https://pubmed.ncbi.nlm.nih.gov/?term=NOTCH1	None	None	33277	9702
NOTCH2	notch receptor 2	Hajdu-Cheney syndrome?0000508;Tetralogy of Fallot?0002245;Alagille syndrome due to a NOTCH2 point mutation?0017252	https://raresource.nih.gov/literature/gene/NOTCH2	4853	ENSG00000134250	7882	https://pubmed.ncbi.nlm.nih.gov/?term=NOTCH2	None	None	84763	2117
NOTCH2NLC	notch 2 N-terminal like C	Oculopharyngodistal myopathy 3?0025376;Neuronal intranuclear inclusion disease?0003971;Oculopharyngodistal myopathy?0012592	https://raresource.nih.gov/literature/gene/NOTCH2NLC	100996717	ENSG00000286219	53924	https://pubmed.ncbi.nlm.nih.gov/?term=NOTCH2NLC	None	None	2279	230
NOTCH3	notch receptor 3	Familial partial lipodystrophy, Kobberling type?0012598;Lateral meningocele syndrome?0009873;Myofibromatosis, infantile, 2?0015939;Infantile myofibromatosis?0002998;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1?0001049	https://raresource.nih.gov/literature/gene/NOTCH3	4854	ENSG00000074181	7883	https://pubmed.ncbi.nlm.nih.gov/?term=NOTCH3	None	None	16883	2550
NPAP1	nuclear pore associated protein 1	Prader-Willi syndrome?0005575	https://raresource.nih.gov/literature/gene/NPAP1	23742	ENSG00000185823	1190	https://pubmed.ncbi.nlm.nih.gov/?term=NPAP1	None	None	5337	17
NPAT	nuclear protein, coactivator of histone transcription	Familial colorectal cancer type X?0021840	https://raresource.nih.gov/literature/gene/NPAT	4863	ENSG00000149308	7896	https://pubmed.ncbi.nlm.nih.gov/?term=NPAT	None	None	4791	265
NPC1	NPC intracellular cholesterol transporter 1	Niemann-Pick disease type C, adult neurologic onset?0020508;Niemann-Pick disease, type C1?0024693;Niemann-Pick disease type C, late infantile neurologic onset?0020506;Niemann-Pick disease type C, severe perinatal form?0020504;Niemann-Pick disease type C, severe early infantile neurologic onset?0020505;Niemann-Pick disease type C, juvenile neurologic onset?0020507	https://raresource.nih.gov/literature/gene/NPC1	4864	ENSG00000141458	7897	https://pubmed.ncbi.nlm.nih.gov/?term=NPC1	None	None	16337	1714
NPC2	NPC intracellular cholesterol transporter 2	Niemann-Pick disease type C, adult neurologic onset?0020508;Niemann-Pick disease type C, late infantile neurologic onset?0020506;Niemann-Pick disease type C, severe perinatal form?0020504;Niemann-Pick disease, type C2?0003992;Niemann-Pick disease type C, severe early infantile neurologic onset?0020505;Niemann-Pick disease type C, juvenile neurologic onset?0020507	https://raresource.nih.gov/literature/gene/NPC2	10577	ENSG00000119655	14537	https://pubmed.ncbi.nlm.nih.gov/?term=NPC2	None	None	4763	722
NPHP1	nephrocystin 1	Nephronophthisis 1?0018645;Bardet-Biedl syndrome?0006866;Senior-Loken syndrome 1?0024701;Renal dysplasia and retinal aplasia?0000322;Joubert syndrome with renal defect?0010169	https://raresource.nih.gov/literature/gene/NPHP1	4867	ENSG00000144061	7905	https://pubmed.ncbi.nlm.nih.gov/?term=NPHP1	None	None	29951	281
NPHP3	nephrocystin 3	Renal dysplasia and retinal aplasia?0000322;Late-onset nephronophthisis?0016824;Renal-hepatic-pancreatic dysplasia?0017356;Renal-hepatic-pancreatic dysplasia 1?0018431;Nephronophthisis 3?0018179;NPHP3-related Meckel-like syndrome?0004665	https://raresource.nih.gov/literature/gene/NPHP3	27031	ENSG00000113971	7907	https://pubmed.ncbi.nlm.nih.gov/?term=NPHP3	None	None	17354	154
NPHP4	nephrocystin 4	Nephronophthisis 4?0024821;Senior-Loken syndrome 4?0015406;Renal dysplasia and retinal aplasia?0000322	https://raresource.nih.gov/literature/gene/NPHP4	261734	ENSG00000131697	19104	https://pubmed.ncbi.nlm.nih.gov/?term=NPHP4	None	None	52882	116
NPHS1	NPHS1 adhesion molecule, nephrin	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Finnish congenital nephrotic syndrome?0001500	https://raresource.nih.gov/literature/gene/NPHS1	4868	ENSG00000161270	7908	https://pubmed.ncbi.nlm.nih.gov/?term=NPHS1	None	None	10742	2460
NPHS2	NPHS2 stomatin family member, podocin	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Nephrotic syndrome, type 2?0015326	https://raresource.nih.gov/literature/gene/NPHS2	7827	ENSG00000116218	13394	https://pubmed.ncbi.nlm.nih.gov/?term=NPHS2	None	None	8352	1410
NPM1	nucleophosmin 1	Dyskeratosis congenita?0010905;Acute myeloblastic leukemia with maturation?0000527;Acute myeloid leukemia?0012757;Acute myeloblastic leukemia without maturation?0000526;Acute myeloid leukemia with NPM1 somatic mutations?0021713	https://raresource.nih.gov/literature/gene/NPM1	4869	ENSG00000181163	7910	https://pubmed.ncbi.nlm.nih.gov/?term=NPM1	None	None	14166	4410
NPPA	natriuretic peptide A	Familial atrial fibrillation?0009740;Atrial fibrillation, familial, 6?0015544;Atrial standstill?0016564;Atrial standstill 2?0018612	https://raresource.nih.gov/literature/gene/NPPA	4878	ENSG00000175206	7939	https://pubmed.ncbi.nlm.nih.gov/?term=NPPA	None	None	2443	12462
NPR2	natriuretic peptide receptor 2	Acromesomelic dysplasia 1, Maroteaux type?0000507;Tall stature-scoliosis-macrodactyly of the great toes syndrome?0017495;Ehlers-Danlos syndrome, type 4?0002082	https://raresource.nih.gov/literature/gene/NPR2	4882	ENSG00000159899	7944	https://pubmed.ncbi.nlm.nih.gov/?term=NPR2	None	None	7225	677
NPR3	natriuretic peptide receptor 3	Ehlers-Danlos syndrome, type 4?0002082	https://raresource.nih.gov/literature/gene/NPR3	4883	ENSG00000113389	7945	https://pubmed.ncbi.nlm.nih.gov/?term=NPR3	None	None	30182	2652
NPRL2	NPR2 like, GATOR1 complex subunit	Familial focal epilepsy with variable foci?0013295;Epilepsy, familial focal, with variable foci 2?0018203	https://raresource.nih.gov/literature/gene/NPRL2	10641	ENSG00000114388	24969	https://pubmed.ncbi.nlm.nih.gov/?term=NPRL2	None	None	1549	409
NPRL3	NPR3 like, GATOR1 complex subunit	Familial focal epilepsy with variable foci?0013295;Epilepsy, familial focal, with variable foci 3?0018204	https://raresource.nih.gov/literature/gene/NPRL3	8131	ENSG00000103148	14124	https://pubmed.ncbi.nlm.nih.gov/?term=NPRL3	None	None	18263	398
NPTX1	neuronal pentraxin 1	Spinocerebellar ataxia 50?0026703	https://raresource.nih.gov/literature/gene/NPTX1	4884	ENSG00000171246	7952	https://pubmed.ncbi.nlm.nih.gov/?term=NPTX1	None	None	5030	387
NR0B1	nuclear receptor subfamily 0 group B member 1	Congenital adrenal hypoplasia, X-linked?0000555;Pure gonadal dysgenesis 46,XY?0005068;46,XY sex reversal 2?0009159	https://raresource.nih.gov/literature/gene/NR0B1	190	ENSG00000169297	7960	https://pubmed.ncbi.nlm.nih.gov/?term=NR0B1	None	None	2298	1516
NR0B2	nuclear receptor subfamily 0 group B member 2	Inherited obesity?0018935	https://raresource.nih.gov/literature/gene/NR0B2	8431	ENSG00000131910	7961	https://pubmed.ncbi.nlm.nih.gov/?term=NR0B2	None	None	2256	1593
NR1H4	nuclear receptor subfamily 1 group H member 4	Cholestasis, progressive familial intrahepatic, 5?0017867	https://raresource.nih.gov/literature/gene/NR1H4	9971	ENSG00000012504	7967	https://pubmed.ncbi.nlm.nih.gov/?term=NR1H4	None	None	21287	5082
NR2E3	nuclear receptor subfamily 2 group E member 3	Retinitis pigmentosa 37?0015508;Enhanced S-cone syndrome?0026125;Goldmann-Favre syndrome?0010781	https://raresource.nih.gov/literature/gene/NR2E3	10002	ENSG00000278570	7974	https://pubmed.ncbi.nlm.nih.gov/?term=NR2E3	None	None	9068	1145
NR2F1	nuclear receptor subfamily 2 group F member 1	Bosch-Boonstra-Schaaf optic atrophy syndrome?0012903	https://raresource.nih.gov/literature/gene/NR2F1	7025	ENSG00000175745	7975	https://pubmed.ncbi.nlm.nih.gov/?term=NR2F1	None	None	7486	486
NR2F2	nuclear receptor subfamily 2 group F member 2	Tetralogy of Fallot?0002245;Congenital heart defects, multiple types, 4?0024987;NR2F2 related multiple congenital anomalies/dysmorphic syndrome?0026561	https://raresource.nih.gov/literature/gene/NR2F2	7026	ENSG00000185551	7976	https://pubmed.ncbi.nlm.nih.gov/?term=NR2F2	None	None	6137	599
NR3C1	nuclear receptor subfamily 3 group C member 1	Glucocorticoid resistance?0002499	https://raresource.nih.gov/literature/gene/NR3C1	2908	ENSG00000113580	7978	https://pubmed.ncbi.nlm.nih.gov/?term=NR3C1	None	None	56120	22257
NR3C2	nuclear receptor subfamily 3 group C member 2	Pseudohyperaldosteronism type 2?0019093;Autosomal dominant pseudohypoaldosteronism type 1?0009145	https://raresource.nih.gov/literature/gene/NR3C2	4306	ENSG00000151623	7979	https://pubmed.ncbi.nlm.nih.gov/?term=NR3C2	None	None	136143	9760
NR4A2	nuclear receptor subfamily 4 group A member 2	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism?0027148;Parkinson disease, late-onset?0017684;Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation?0027164	https://raresource.nih.gov/literature/gene/NR4A2	4929	ENSG00000153234	7981	https://pubmed.ncbi.nlm.nih.gov/?term=NR4A2	None	None	8013	2286
NR4A3	nuclear receptor subfamily 4 group A member 3	Extraskeletal myxoid chondrosarcoma?0017105	https://raresource.nih.gov/literature/gene/NR4A3	8013	ENSG00000119508	7982	https://pubmed.ncbi.nlm.nih.gov/?term=NR4A3	None	None	16232	833
NR5A1	nuclear receptor subfamily 5 group A member 1	Premature ovarian failure 7?0024899;46 XX gonadal dysgenesis?0005671;Spermatogenic failure 8?0015734;46,XX testicular disorder of sex development?0000399;46,XY sex reversal 3?0015598;46,XX ovotesticular disorder of sex development?0016585;46,XX sex reversal 4?0025995;Pure gonadal dysgenesis 46,XY?0005068;46,XY partial gonadal dysgenesis?0017211	https://raresource.nih.gov/literature/gene/NR5A1	2516	ENSG00000136931	7983	https://pubmed.ncbi.nlm.nih.gov/?term=NR5A1	None	None	11798	4178
NRAS	NRAS proto-oncogene, GTPase	Epidermal nevus?0024601;Noonan syndrome 6?0010701;Neurocutaneous melanocytosis?0007186;Large congenital melanocytic nevus?0002469;Differentiated thyroid carcinoma?0012027;Thyroid cancer, nonmedullary, 2?0005206;Langerhans cell histiocytosis?0006858;Autoimmune lymphoproliferative syndrome type 4?0017262;Noonan syndrome?0010955;Linear nevus sebaceous syndrome?0010291	https://raresource.nih.gov/literature/gene/NRAS	4893	ENSG00000213281	7989	https://pubmed.ncbi.nlm.nih.gov/?term=NRAS	None	None	5830	25073
NRIP1	nuclear receptor interacting protein 1	Congenital anomalies of kidney and urinary tract 3?0025711	https://raresource.nih.gov/literature/gene/NRIP1	8204	ENSG00000180530	8001	https://pubmed.ncbi.nlm.nih.gov/?term=NRIP1	None	None	26986	480
NRL	neural retina leucine zipper	Retinitis pigmentosa 27?0015700	https://raresource.nih.gov/literature/gene/NRL	4901	ENSG00000129535	8002	https://pubmed.ncbi.nlm.nih.gov/?term=NRL	None	None	6847	443
NRXN1	neurexin 1	Pitt-Hopkins-like syndrome 2?0024939;Chromosome 2p16.3 deletion syndrome?0024940;NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance?0022416	https://raresource.nih.gov/literature/gene/NRXN1	9378	ENSG00000179915	8008	https://pubmed.ncbi.nlm.nih.gov/?term=NRXN1	None	None	480104	571
NSD1	nuclear receptor binding SET domain protein 1	Sotos syndrome?0010091;Beckwith-Wiedemann syndrome due to NSD1 mutation?0017178;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/NSD1	64324	ENSG00000165671	14234	https://pubmed.ncbi.nlm.nih.gov/?term=NSD1	None	None	85223	622
NSD2	nuclear receptor binding SET domain protein 2	Rauch-Steindl syndrome?0027076;4p partial monosomy syndrome?0007896	https://raresource.nih.gov/literature/gene/NSD2	7468	ENSG00000109685	12766	https://pubmed.ncbi.nlm.nih.gov/?term=NSD2	None	None	49424	543
NSDHL	NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL	Child syndrome?0006039;CK syndrome?0017210	https://raresource.nih.gov/literature/gene/NSDHL	50814	ENSG00000147383	13398	https://pubmed.ncbi.nlm.nih.gov/?term=NSDHL	None	None	6545	130
NSF	N-ethylmaleimide sensitive factor, vesicle fusing ATPase	Developmental and epileptic encephalopathy 96?0016445	https://raresource.nih.gov/literature/gene/NSF	4905	ENSG00000073969	8016	https://pubmed.ncbi.nlm.nih.gov/?term=NSF	None	None	37818	1265
NSMCE2	NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase	Seckel syndrome 10?0018484	https://raresource.nih.gov/literature/gene/NSMCE2	286053	ENSG00000156831	26513	https://pubmed.ncbi.nlm.nih.gov/?term=NSMCE2	None	None	98116	123
NSMF	NMDA receptor synaptonuclear signaling and neuronal migration factor	Hypogonadotropic hypogonadism 9 with or without anosmia?0015850;Hypogonadotropic hypogonadism?0016533	https://raresource.nih.gov/literature/gene/NSMF	26012	ENSG00000165802	29843	https://pubmed.ncbi.nlm.nih.gov/?term=NSMF	None	None	7281	224
NSUN2	NOP2/Sun RNA methyltransferase 2	Intellectual disability, autosomal recessive 5?0022541;Dubowitz syndrome?0006290;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/NSUN2	54888	ENSG00000037474	25994	https://pubmed.ncbi.nlm.nih.gov/?term=NSUN2	None	None	15319	347
NSUN3	NOP2/Sun RNA methyltransferase 3	Combined oxidative phosphorylation deficiency 48?0025811	https://raresource.nih.gov/literature/gene/NSUN3	63899	ENSG00000178694	26208	https://pubmed.ncbi.nlm.nih.gov/?term=NSUN3	None	None	23155	49
NSUN6	NOP2/Sun RNA methyltransferase 6	Intellectual developmental disorder, autosomal recessive 82?0027032	https://raresource.nih.gov/literature/gene/NSUN6	221078	ENSG00000241058	23529	https://pubmed.ncbi.nlm.nih.gov/?term=NSUN6	None	None	16420	70
NT5C2	5'-nucleotidase, cytosolic II	Hereditary spastic paraplegia 45?0017477	https://raresource.nih.gov/literature/gene/NT5C2	22978	ENSG00000076685	8022	https://pubmed.ncbi.nlm.nih.gov/?term=NT5C2	None	None	40520	319
NT5C3A	5'-nucleotidase, cytosolic IIIA	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency?0016635	https://raresource.nih.gov/literature/gene/NT5C3A	51251	ENSG00000122643	17820	https://pubmed.ncbi.nlm.nih.gov/?term=NT5C3A	None	None	19247	804
NT5E	5'-nucleotidase ecto	Hereditary arterial and articular multiple calcification syndrome?0010762	https://raresource.nih.gov/literature/gene/NT5E	4907	ENSG00000135318	8021	https://pubmed.ncbi.nlm.nih.gov/?term=NT5E	None	None	17057	11833
NTF4	neurotrophin 4	Glaucoma 1, open angle, O?0024902	https://raresource.nih.gov/literature/gene/NTF4	4909	ENSG00000225950	8024	https://pubmed.ncbi.nlm.nih.gov/?term=NTF4	None	None	1105	1217
NTHL1	nth like DNA glycosylase 1	Familial adenomatous polyposis 3?0017790;NTHL1-deficiency tumor predisposition syndrome?0026254	https://raresource.nih.gov/literature/gene/NTHL1	4913	ENSG00000065057	8028	https://pubmed.ncbi.nlm.nih.gov/?term=NTHL1	None	None	3237	351
NTN1	netrin 1	Mirror movements 4?0016333;Bimanual synkinesia?0012551	https://raresource.nih.gov/literature/gene/NTN1	9423	ENSG00000065320	8029	https://pubmed.ncbi.nlm.nih.gov/?term=NTN1	None	None	79871	1579
NTNG1	netrin G1	Atypical Rett syndrome?0004694	https://raresource.nih.gov/literature/gene/NTNG1	22854	ENSG00000162631	23319	https://pubmed.ncbi.nlm.nih.gov/?term=NTNG1	None	None	121290	108
NTRK1	neurotrophic receptor tyrosine kinase 1	Hereditary insensitivity to pain with anhidrosis?0003006	https://raresource.nih.gov/literature/gene/NTRK1	4914	ENSG00000198400	8031	https://pubmed.ncbi.nlm.nih.gov/?term=NTRK1	None	None	23091	36
NTRK2	neurotrophic receptor tyrosine kinase 2	Early-onset obesity-hyperphagia-severe developmental delay syndrome?0019685;Undetermined early-onset epileptic encephalopathy?0015028;Developmental and epileptic encephalopathy, 58?0016259	https://raresource.nih.gov/literature/gene/NTRK2	4915	ENSG00000148053	8032	https://pubmed.ncbi.nlm.nih.gov/?term=NTRK2	None	None	127235	6806
NUBPL	NUBP iron-sulfur cluster assembly factor, mitochondrial	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 21?0016327	https://raresource.nih.gov/literature/gene/NUBPL	80224	ENSG00000151413	20278	https://pubmed.ncbi.nlm.nih.gov/?term=NUBPL	None	None	83683	55
NUP107	nucleoporin 107	46 XX gonadal dysgenesis?0005671;Galloway-Mowat syndrome 7?0016344;Galloway-Mowat syndrome?0000065;Nephrotic syndrome, type 11?0016155;Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Ovarian dysgenesis 6?0018042	https://raresource.nih.gov/literature/gene/NUP107	57122	ENSG00000111581	29914	https://pubmed.ncbi.nlm.nih.gov/?term=NUP107	None	None	14677	192
NUP133	nucleoporin 133	Galloway-Mowat syndrome?0000065;Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Nephrotic syndrome, type 18?0016300;Galloway-Mowat syndrome 8?0016345	https://raresource.nih.gov/literature/gene/NUP133	55746	ENSG00000069248	18016	https://pubmed.ncbi.nlm.nih.gov/?term=NUP133	None	None	27733	94
NUP155	nucleoporin 155	Atrial fibrillation, familial, 15?0016010;Familial atrial fibrillation?0009740	https://raresource.nih.gov/literature/gene/NUP155	9631	ENSG00000113569	8063	https://pubmed.ncbi.nlm.nih.gov/?term=NUP155	None	None	38683	67
NUP160	nucleoporin 160	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Nephrotic syndrome, type 19?0016301	https://raresource.nih.gov/literature/gene/NUP160	23279	ENSG00000030066	18017	https://pubmed.ncbi.nlm.nih.gov/?term=NUP160	None	None	30506	67
NUP205	nucleoporin 205	Nephrotic syndrome, type 13?0016167;Familial idiopathic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/NUP205	23165	ENSG00000155561	18658	https://pubmed.ncbi.nlm.nih.gov/?term=NUP205	None	None	35114	60
NUP214	nucleoporin 214	Acute myeloid leukemia?0012757;Acute lymphoid leukemia?0000522	https://raresource.nih.gov/literature/gene/NUP214	8021	ENSG00000126883	8064	https://pubmed.ncbi.nlm.nih.gov/?term=NUP214	None	None	43350	1158
NUP37	nucleoporin 37	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Microcephaly 24, primary, autosomal recessive?0016302;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/NUP37	79023	ENSG00000075188	29929	https://pubmed.ncbi.nlm.nih.gov/?term=NUP37	None	None	14447	315
NUP54	nucleoporin 54	Dystonia 37, early-onset, with striatal lesions?0026819	https://raresource.nih.gov/literature/gene/NUP54	53371	ENSG00000138750	17359	https://pubmed.ncbi.nlm.nih.gov/?term=NUP54	None	None	14341	44
NUP62	nucleoporin 62	Familial infantile bilateral striatal necrosis?0017141	https://raresource.nih.gov/literature/gene/NUP62	23636	ENSG00000213024	8066	https://pubmed.ncbi.nlm.nih.gov/?term=NUP62	None	None	779	11335
NUP85	nucleoporin 85	Seckel syndrome?0008562;Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Nephrotic syndrome, type 17?0016299	https://raresource.nih.gov/literature/gene/NUP85	79902	ENSG00000125450	8734	https://pubmed.ncbi.nlm.nih.gov/?term=NUP85	None	None	13453	84
NUP88	nucleoporin 88	Fetal akinesia deformation sequence 4?0016497	https://raresource.nih.gov/literature/gene/NUP88	4927	ENSG00000108559	8067	https://pubmed.ncbi.nlm.nih.gov/?term=NUP88	None	None	12971	53
NUP93	nucleoporin 93	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Nephrotic syndrome, type 12?0016166	https://raresource.nih.gov/literature/gene/NUP93	9688	ENSG00000102900	28958	https://pubmed.ncbi.nlm.nih.gov/?term=NUP93	None	None	30994	35
NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	Congenital disorder of glycosylation, type IAA?0025031;Intellectual disability, autosomal dominant 55, with seizures?0016260;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/NUS1	116150	ENSG00000153989	21042	https://pubmed.ncbi.nlm.nih.gov/?term=NUS1	None	None	14337	131
NUTM2B-AS1	NUTM2B antisense RNA 1	Oculopharyngodistal myopathy?0012592	https://raresource.nih.gov/literature/gene/NUTM2B-AS1	101060691	ENSG00000225484	51204	https://pubmed.ncbi.nlm.nih.gov/?term=NUTM2B-AS1	None	None	15330	15
NXN	nucleoredoxin	Robinow syndrome, autosomal recessive 2?0025750	https://raresource.nih.gov/literature/gene/NXN	64359	ENSG00000167693	18008	https://pubmed.ncbi.nlm.nih.gov/?term=NXN	None	None	80879	132
NYX	nyctalopin	Congenital stationary night blindness?0025068;Congenital stationary night blindness 1A?0015306;NYX-related retinopathy?0026557	https://raresource.nih.gov/literature/gene/NYX	60506	ENSG00000188937	8082	https://pubmed.ncbi.nlm.nih.gov/?term=NYX	None	None	7201	210
OAS1	2'-5'-oligoadenylate synthetase 1	Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia?0022313	https://raresource.nih.gov/literature/gene/OAS1	4938	ENSG00000089127	8086	https://pubmed.ncbi.nlm.nih.gov/?term=OAS1	None	None	8924	782
OAT	ornithine aminotransferase	Ornithine aminotransferase deficiency?0006556	https://raresource.nih.gov/literature/gene/OAT	4942	ENSG00000065154	8091	https://pubmed.ncbi.nlm.nih.gov/?term=OAT	None	None	10837	1888
OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	Hereditary recurrent myoglobinuria?0016916	https://raresource.nih.gov/literature/gene/OBSCN	84033	ENSG00000154358	15719	https://pubmed.ncbi.nlm.nih.gov/?term=OBSCN	None	None	68105	241
OBSL1	obscurin like cytoskeletal adaptor 1	3M syndrome 2?0015591;3-M syndrome?0005667	https://raresource.nih.gov/literature/gene/OBSL1	23363	ENSG00000124006	29092	https://pubmed.ncbi.nlm.nih.gov/?term=OBSL1	None	None	10030	85
OCA2	OCA2 melanosomal transmembrane protein	Tyrosinase-positive oculocutaneous albinism?0004038	https://raresource.nih.gov/literature/gene/OCA2	4948	ENSG00000104044	8101	https://pubmed.ncbi.nlm.nih.gov/?term=OCA2	None	None	82384	9338
OCLN	occludin	Pseudo-TORCH syndrome 1?0025250;Pseudo-TORCH syndrome?0012426	https://raresource.nih.gov/literature/gene/OCLN	100506658	ENSG00000197822	8104	https://pubmed.ncbi.nlm.nih.gov/?term=OCLN	None	None	22909	9447
OCRL	OCRL inositol polyphosphate-5-phosphatase	Lowe syndrome?0003295;Dent disease type 2?0010645	https://raresource.nih.gov/literature/gene/OCRL	4952	ENSG00000122126	8108	https://pubmed.ncbi.nlm.nih.gov/?term=OCRL	None	None	9234	397
ODAD1	outer dynein arm docking complex subunit 1	Primary ciliary dyskinesia 20?0015902;Tetralogy of Fallot?0002245;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/ODAD1	93233	ENSG00000105479	26560	https://pubmed.ncbi.nlm.nih.gov/?term=ODAD1	None	None	None	28
ODAD2	outer dynein arm docking complex subunit 2	Primary ciliary dyskinesia?0004484;Primary ciliary dyskinesia 23?0015969	https://raresource.nih.gov/literature/gene/ODAD2	55130	ENSG00000169126	25583	https://pubmed.ncbi.nlm.nih.gov/?term=ODAD2	None	None	None	37
ODAD3	outer dynein arm docking complex subunit 3	Primary ciliary dyskinesia 30?0016052;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/ODAD3	115948	ENSG00000198003	28303	https://pubmed.ncbi.nlm.nih.gov/?term=ODAD3	None	None	None	25
ODAD4	outer dynein arm docking complex subunit 4	Primary ciliary dyskinesia?0004484;Primary ciliary dyskinesia 35?0016188	https://raresource.nih.gov/literature/gene/ODAD4	83538	ENSG00000204815	25280	https://pubmed.ncbi.nlm.nih.gov/?term=ODAD4	None	None	None	19
ODAPH	odontogenesis associated phosphoprotein	Amelogenesis imperfecta hypomaturation type 2A4?0015847;Amelogenesis imperfecta type 2?0008349	https://raresource.nih.gov/literature/gene/ODAPH	152816	ENSG00000174792	26300	https://pubmed.ncbi.nlm.nih.gov/?term=ODAPH	None	None	5366	19
ODC1	ornithine decarboxylase 1	Neurodevelopmental disorder with alopecia and brain abnormalities?0017987	https://raresource.nih.gov/literature/gene/ODC1	4953	ENSG00000115758	8109	https://pubmed.ncbi.nlm.nih.gov/?term=ODC1	None	None	5135	7407
OFD1	OFD1 centriole and centriolar satellite protein	Joubert syndrome 10?0015265;Joubert syndrome?0006802;Simpson-Golabi-Behmel syndrome type 2?0024715;OFD1-related ciliopathy?0027576;Retinitis pigmentosa 23?0010391;Orofaciodigital syndrome I?0004121;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/OFD1	8481	ENSG00000046651	2567	https://pubmed.ncbi.nlm.nih.gov/?term=OFD1	None	None	7242	218
OGDH	oxoglutarate dehydrogenase	Oxoglutaricaciduria?0000617	https://raresource.nih.gov/literature/gene/OGDH	4967	ENSG00000105953	8124	https://pubmed.ncbi.nlm.nih.gov/?term=OGDH	None	None	40381	420
OGG1	8-oxoguanine DNA glycosylase	Nonpapillary renal cell carcinoma?0024575	https://raresource.nih.gov/literature/gene/OGG1	4968	ENSG00000114026	8125	https://pubmed.ncbi.nlm.nih.gov/?term=OGG1	None	None	7582	2782
OGT	O-linked N-acetylglucosamine (GlcNAc) transferase	Intellectual disability, X-linked 106?0025656	https://raresource.nih.gov/literature/gene/OGT	8473	ENSG00000147162	8127	https://pubmed.ncbi.nlm.nih.gov/?term=OGT	None	None	7859	1552
OPA1	OPA1 mitochondrial dynamin like GTPase	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)?0025019;Abortive cerebellar ataxia?0000849;OPA1-related optic atrophy with or without extraocular features?0026472;Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy?0015057;Autosomal dominant optic atrophy plus syndrome?0005243;Autosomal dominant optic atrophy classic form?0009890	https://raresource.nih.gov/literature/gene/OPA1	4976	ENSG00000198836	8140	https://pubmed.ncbi.nlm.nih.gov/?term=OPA1	None	None	41669	1
OPA3	outer mitochondrial membrane lipid metabolism regulator OPA3	3-Methylglutaconic aciduria type 3?0005663;Optic atrophy 3?0010203	https://raresource.nih.gov/literature/gene/OPA3	80207	ENSG00000125741	8142	https://pubmed.ncbi.nlm.nih.gov/?term=OPA3	None	None	20125	88
OPHN1	oligophrenin 1	X-linked intellectual disability-cerebellar hypoplasia syndrome?0009947	https://raresource.nih.gov/literature/gene/OPHN1	4983	ENSG00000079482	8148	https://pubmed.ncbi.nlm.nih.gov/?term=OPHN1	None	None	69737	135
OPLAH	5-oxoprolinase, ATP-hydrolysing	5-Oxoprolinase deficiency?0005681	https://raresource.nih.gov/literature/gene/OPLAH	26873	ENSG00000178814	8149	https://pubmed.ncbi.nlm.nih.gov/?term=OPLAH	None	None	6995	131
OPN1LW	opsin 1, long wave sensitive	Cone monochromatism?0000917;Cone-rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/OPN1LW	5956	ENSG00000102076	9936	https://pubmed.ncbi.nlm.nih.gov/?term=OPN1LW	None	None	2267	5523
OPN1MW	opsin 1, medium wave sensitive	Cone monochromatism?0000917;Cone-rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/OPN1MW	2652	ENSG00000268221	4206	https://pubmed.ncbi.nlm.nih.gov/?term=OPN1MW	None	None	1422	429
OPN1SW	opsin 1, short wave sensitive	Blue color blindness?0016768	https://raresource.nih.gov/literature/gene/OPN1SW	611	ENSG00000128617	1012	https://pubmed.ncbi.nlm.nih.gov/?term=OPN1SW	None	None	2184	509
OPTN	optineurin	Primary open angle glaucoma?0026277;Amyotrophic lateral sclerosis type 12?0015663;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/OPTN	10133	ENSG00000123240	17142	https://pubmed.ncbi.nlm.nih.gov/?term=OPTN	None	None	17417	1
ORAI1	ORAI calcium release-activated calcium modulator 1	Myopathy with tubular aggregates?0003884;Myopathy, tubular aggregate, 2?0016026;Combined immunodeficiency due to ORAI1 deficiency?0010524	https://raresource.nih.gov/literature/gene/ORAI1	84876	ENSG00000293604	25896	https://pubmed.ncbi.nlm.nih.gov/?term=ORAI1	None	None	6881	1965
ORC1	origin recognition complex subunit 1	Meier-Gorlin syndrome?0002033;Meier-Gorlin syndrome 1?0015162	https://raresource.nih.gov/literature/gene/ORC1	4998	ENSG00000085840	8487	https://pubmed.ncbi.nlm.nih.gov/?term=ORC1	None	None	12836	407
ORC4	origin recognition complex subunit 4	Meier-Gorlin syndrome?0002033;Meier-Gorlin syndrome 2?0015708	https://raresource.nih.gov/literature/gene/ORC4	5000	ENSG00000115947	8490	https://pubmed.ncbi.nlm.nih.gov/?term=ORC4	None	None	33896	103
ORC6	origin recognition complex subunit 6	Meier-Gorlin syndrome?0002033;Meier-Gorlin syndrome 3?0015710	https://raresource.nih.gov/literature/gene/ORC6	23594	ENSG00000091651	17151	https://pubmed.ncbi.nlm.nih.gov/?term=ORC6	None	None	3893	131
OSBPL2	oxysterol binding protein like 2	Autosomal dominant nonsyndromic hearing loss 67?0018141;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/OSBPL2	9885	ENSG00000130703	15761	https://pubmed.ncbi.nlm.nih.gov/?term=OSBPL2	None	None	19136	88
OSGEP	O-sialoglycoprotein endopeptidase	Galloway-Mowat syndrome?0000065;Galloway-Mowat syndrome 3?0016247	https://raresource.nih.gov/literature/gene/OSGEP	55644	ENSG00000092094	18028	https://pubmed.ncbi.nlm.nih.gov/?term=OSGEP	None	None	3880	197
OSMR	oncostatin M receptor	Amyloidosis, primary localized cutaneous, 1?0018637;Familial primary localized cutaneous amyloidosis?0017533	https://raresource.nih.gov/literature/gene/OSMR	9180	ENSG00000145623	8507	https://pubmed.ncbi.nlm.nih.gov/?term=OSMR	None	None	33440	441
OSTM1	osteoclastogenesis associated transmembrane protein 1	Infantile osteopetrosis with neuroaxonal dysplasia?0010082;Autosomal recessive osteopetrosis 5?0004153	https://raresource.nih.gov/literature/gene/OSTM1	28962	ENSG00000081087	21652	https://pubmed.ncbi.nlm.nih.gov/?term=OSTM1	None	None	18527	1033
OTC	ornithine transcarbamylase	Ornithine carbamoyltransferase deficiency?0008391	https://raresource.nih.gov/literature/gene/OTC	5009	ENSG00000036473	8512	https://pubmed.ncbi.nlm.nih.gov/?term=OTC	None	None	10903	1812
OTOA	otoancorin	Autosomal recessive nonsyndromic hearing loss 22?0022601;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/OTOA	146183	ENSG00000155719	16378	https://pubmed.ncbi.nlm.nih.gov/?term=OTOA	None	None	26698	54
OTOF	otoferlin	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 9?0022588	https://raresource.nih.gov/literature/gene/OTOF	9381	ENSG00000115155	8515	https://pubmed.ncbi.nlm.nih.gov/?term=OTOF	None	None	41268	393
OTOG	otogelin	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 18B?0022648	https://raresource.nih.gov/literature/gene/OTOG	340990	ENSG00000188162	8516	https://pubmed.ncbi.nlm.nih.gov/?term=OTOG	None	None	40427	60
OTOGL	otogelin like	Autosomal recessive nonsyndromic hearing loss 84B?0022647;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/OTOGL	283310	ENSG00000165899	26901	https://pubmed.ncbi.nlm.nih.gov/?term=OTOGL	None	None	70643	33
OTUD6B	OTU deubiquitinase 6B	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies?0017942	https://raresource.nih.gov/literature/gene/OTUD6B	51633	ENSG00000155100	24281	https://pubmed.ncbi.nlm.nih.gov/?term=OTUD6B	None	None	7422	66
OTULIN	OTU deubiquitinase with linear linkage specificity	Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive?0013198	https://raresource.nih.gov/literature/gene/OTULIN	90268	ENSG00000154124	25118	https://pubmed.ncbi.nlm.nih.gov/?term=OTULIN	None	None	13949	153
OTX2	orthodenticle homeobox 2	Nanophthalmia?0016637;Microphthalmia, isolated, with coloboma?0003644;Syndromic microphthalmia type 5?0003692;Pituitary hormone deficiency, combined, 6?0016520;Butterfly-shaped pigment dystrophy?0016890;Combined pituitary hormone deficiencies, genetic form?0010602	https://raresource.nih.gov/literature/gene/OTX2	5015	ENSG00000165588	8522	https://pubmed.ncbi.nlm.nih.gov/?term=OTX2	None	None	6051	1112
OVOL2	ovo like zinc finger 2	Posterior polymorphous corneal dystrophy?0016882;Posterior polymorphous corneal dystrophy 1?0018212	https://raresource.nih.gov/literature/gene/OVOL2	58495	ENSG00000125850	15804	https://pubmed.ncbi.nlm.nih.gov/?term=OVOL2	None	None	19970	150
OXCT1	3-oxoacid CoA-transferase 1	Succinyl-CoA acetoacetate transferase deficiency?0004774	https://raresource.nih.gov/literature/gene/OXCT1	5019	ENSG00000083720	8527	https://pubmed.ncbi.nlm.nih.gov/?term=OXCT1	None	None	50254	292
OXR1	oxidation resistance 1	Congenital cerebellar hypoplasia?0018720	https://raresource.nih.gov/literature/gene/OXR1	55074	ENSG00000164830	15822	https://pubmed.ncbi.nlm.nih.gov/?term=OXR1	None	None	51869	196
P2RX2	purinergic receptor P2X 2	Autosomal dominant nonsyndromic hearing loss?0016791;Autosomal dominant nonsyndromic hearing loss 41?0018121	https://raresource.nih.gov/literature/gene/P2RX2	22953	ENSG00000187848	15459	https://pubmed.ncbi.nlm.nih.gov/?term=P2RX2	None	None	2721	612
P2RY12	purinergic receptor P2Y12	Platelet-type bleeding disorder 8?0012478	https://raresource.nih.gov/literature/gene/P2RY12	64805	ENSG00000169313	18124	https://pubmed.ncbi.nlm.nih.gov/?term=P2RY12	None	None	618	3936
P3H1	prolyl 3-hydroxylase 1	Osteogenesis imperfecta type 8?0010152	https://raresource.nih.gov/literature/gene/P3H1	64175	ENSG00000117385	19316	https://pubmed.ncbi.nlm.nih.gov/?term=P3H1	None	None	9795	159
P3H2	prolyl 3-hydroxylase 2	Myopia, high, with cataract and vitreoretinal degeneration?0018197	https://raresource.nih.gov/literature/gene/P3H2	55214	ENSG00000090530	19317	https://pubmed.ncbi.nlm.nih.gov/?term=P3H2	None	None	66649	62
P4HB	prolyl 4-hydroxylase subunit beta	Cole-Carpenter syndrome?0001425;Cole-Carpenter syndrome 1?0024531	https://raresource.nih.gov/literature/gene/P4HB	5034	ENSG00000185624	8548	https://pubmed.ncbi.nlm.nih.gov/?term=P4HB	None	None	7431	4791
P4HTM	prolyl 4-hydroxylase, transmembrane	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities?0025741;Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome?0021817	https://raresource.nih.gov/literature/gene/P4HTM	54681	ENSG00000178467	28858	https://pubmed.ncbi.nlm.nih.gov/?term=P4HTM	None	None	6616	112
PABPN1	poly(A) binding protein nuclear 1	Oculopharyngeal muscular dystrophy 1?0026954;Oculopharyngeal muscular dystrophy?0007245	https://raresource.nih.gov/literature/gene/PABPN1	8106	ENSG00000100836	8565	https://pubmed.ncbi.nlm.nih.gov/?term=PABPN1	None	None	817	406
PACS1	phosphofurin acidic cluster sorting protein 1	Schuurs-Hoeijmakers syndrome?0013043	https://raresource.nih.gov/literature/gene/PACS1	55690	ENSG00000175115	30032	https://pubmed.ncbi.nlm.nih.gov/?term=PACS1	None	None	66092	103
PACS2	phosphofurin acidic cluster sorting protein 2	Undetermined early-onset epileptic encephalopathy?0015028;Developmental and epileptic encephalopathy, 66?0025985	https://raresource.nih.gov/literature/gene/PACS2	23241	ENSG00000179364	23794	https://pubmed.ncbi.nlm.nih.gov/?term=PACS2	None	None	28547	114
PADI3	peptidyl arginine deiminase 3	Uncombable hair syndrome 1?0015122;Uncombable hair syndrome?0005404	https://raresource.nih.gov/literature/gene/PADI3	51702	ENSG00000142619	18337	https://pubmed.ncbi.nlm.nih.gov/?term=PADI3	None	None	14772	168
PAFAH1B1	platelet activating factor acetylhydrolase 1b regulatory subunit 1	Lissencephaly due to LIS1 mutation?0016838;Subcortical band heterotopia?0001904	https://raresource.nih.gov/literature/gene/PAFAH1B1	5048	ENSG00000007168	8574	https://pubmed.ncbi.nlm.nih.gov/?term=PAFAH1B1	None	None	30650	736
PAH	phenylalanine hydroxylase	Mild phenylketonuria?0010324;Classical phenylketonuria?0018982;Maternal phenylketonuria?0003413;Mild hyperphenylalaninemia?0019027;Phenylketonuria?0007383;Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria?0021166	https://raresource.nih.gov/literature/gene/PAH	5053	ENSG00000171759	8582	https://pubmed.ncbi.nlm.nih.gov/?term=PAH	None	None	30338	3700
PAICS	phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase	PAICS deficiency?0026646	https://raresource.nih.gov/literature/gene/PAICS	10606	ENSG00000128050	8587	https://pubmed.ncbi.nlm.nih.gov/?term=PAICS	None	None	10246	420
PAK2	p21 (RAC1) activated kinase 2	Knobloch syndrome 2?0026052	https://raresource.nih.gov/literature/gene/PAK2	5062	ENSG00000180370	8591	https://pubmed.ncbi.nlm.nih.gov/?term=PAK2	None	None	39276	1079
PAK3	p21 (RAC1) activated kinase 3	Intellectual disability, X-linked 30?0022682	https://raresource.nih.gov/literature/gene/PAK3	5063	ENSG00000077264	8592	https://pubmed.ncbi.nlm.nih.gov/?term=PAK3	None	None	48204	627
PALB2	partner and localizer of BRCA2	Fanconi anemia?0006425;Fanconi anemia complementation group N?0015500;PALB2-related cancer predisposition?0026412	https://raresource.nih.gov/literature/gene/PALB2	79728	ENSG00000083093	26144	https://pubmed.ncbi.nlm.nih.gov/?term=PALB2	None	None	17272	1617
PAM16	presequence translocase associated motor 16	Autosomal recessive spondylometaphyseal dysplasia, Megarbane type?0017667	https://raresource.nih.gov/literature/gene/PAM16	51025	ENSG00000217930	29679	https://pubmed.ncbi.nlm.nih.gov/?term=PAM16	None	None	500	61
PANK2	pantothenate kinase 2	Pigmentary pallidal degeneration?0006564;Classic pantothenate kinase-associated neurodegeneration?0017114;Atypical pantothenate kinase-associated neurodegeneration?0017115	https://raresource.nih.gov/literature/gene/PANK2	80025	ENSG00000125779	15894	https://pubmed.ncbi.nlm.nih.gov/?term=PANK2	None	None	13938	500
PANK4	pantothenate kinase 4 (inactive)	Posterior subcapsular cataract?0016889	https://raresource.nih.gov/literature/gene/PANK4	55229	ENSG00000157881	19366	https://pubmed.ncbi.nlm.nih.gov/?term=PANK4	None	None	10507	22
PANX1	pannexin 1	Female infertility due to oocyte meiotic arrest?0017887	https://raresource.nih.gov/literature/gene/PANX1	24145	ENSG00000110218	8599	https://pubmed.ncbi.nlm.nih.gov/?term=PANX1	None	None	18875	1119
PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	Autosomal recessive brachyolmia?0013171;Spondyloepimetaphyseal dysplasia, PAPSS2 type?0016813	https://raresource.nih.gov/literature/gene/PAPSS2	9060	ENSG00000198682	8604	https://pubmed.ncbi.nlm.nih.gov/?term=PAPSS2	None	None	32954	663
PARK7	Parkinsonism associated deglycase	Autosomal recessive early-onset Parkinson disease 7?0018606;Young-onset Parkinson disease?0016610	https://raresource.nih.gov/literature/gene/PARK7	11315	ENSG00000116288	16369	https://pubmed.ncbi.nlm.nih.gov/?term=PARK7	None	None	11956	2260
PARN	poly(A)-specific ribonuclease	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4?0016097;Hoyeraal-Hreidarsson syndrome?0000346;Dyskeratosis congenita?0010905;Dyskeratosis congenita, autosomal recessive 6?0016095	https://raresource.nih.gov/literature/gene/PARN	5073	ENSG00000140694	8609	https://pubmed.ncbi.nlm.nih.gov/?term=PARN	None	None	51849	340
PARS2	prolyl-tRNA synthetase 2, mitochondrial	Developmental and epileptic encephalopathy, 75?0016352;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/PARS2	25973	ENSG00000162396	30563	https://pubmed.ncbi.nlm.nih.gov/?term=PARS2	None	None	4436	94
PATL2	PAT1 homolog 2	Female infertility due to oocyte meiotic arrest?0017887;Oocyte maturation defect 4?0018497	https://raresource.nih.gov/literature/gene/PATL2	197135	ENSG00000229474	33630	https://pubmed.ncbi.nlm.nih.gov/?term=PATL2	None	None	13278	58
PAX1	paired box 1	Otofaciocervical syndrome 2?0016503;Otofaciocervical syndrome?0004169	https://raresource.nih.gov/literature/gene/PAX1	5075	ENSG00000125813	8615	https://pubmed.ncbi.nlm.nih.gov/?term=PAX1	None	None	5846	372
PAX2	paired box 2	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Renal coloboma syndrome?0004106;Focal segmental glomerulosclerosis 7?0016045	https://raresource.nih.gov/literature/gene/PAX2	5076	ENSG00000075891	8616	https://pubmed.ncbi.nlm.nih.gov/?term=PAX2	None	None	36601	1663
PAX3	paired box 3	Waardenburg syndrome type 1?0005519;Alveolar rhabdomyosarcoma?0004701;Craniofacial-deafness-hand syndrome?0001571;Waardenburg syndrome type 3?0005523	https://raresource.nih.gov/literature/gene/PAX3	5077	ENSG00000135903	8617	https://pubmed.ncbi.nlm.nih.gov/?term=PAX3	None	None	44086	2170
PAX4	paired box 4	Maturity-onset diabetes of the young type 9?0010663;Maturity onset diabetes mellitus in young?0003697	https://raresource.nih.gov/literature/gene/PAX4	5078	ENSG00000106331	8618	https://pubmed.ncbi.nlm.nih.gov/?term=PAX4	None	None	4834	418
PAX5	paired box 5	PAX5-related B lymphopenia and autism spectrum disorder?0026131	https://raresource.nih.gov/literature/gene/PAX5	5079	ENSG00000196092	8619	https://pubmed.ncbi.nlm.nih.gov/?term=PAX5	None	None	76613	2388
PAX6	paired box 6	Coloboma of choroid and retina?0016875;Aniridia 1?0025407;Foveal hypoplasia 1?0024566;PAX6-related ocular dysgenesis?0026474;Isolated aniridia?0005816;Isolated optic nerve hypoplasia?0008419;Iris coloboma?0001434;Eyelid coloboma?0019605;Irido-corneo-trabecular dysgenesis?0007377;Lens coloboma?0001433;11p partial monosomy syndrome?0005528;Coloboma of optic nerve?0001438;Coloboma of macula?0001436;Autosomal dominant keratitis?0003089;Foveal hypoplasia-presenile cataract syndrome?0000406	https://raresource.nih.gov/literature/gene/PAX6	5080	ENSG00000007372	8620	https://pubmed.ncbi.nlm.nih.gov/?term=PAX6	None	None	14878	4031
PAX7	paired box 7	Alveolar rhabdomyosarcoma?0004701;Myopathy, congenital, progressive, with scoliosis?0025753	https://raresource.nih.gov/literature/gene/PAX7	5081	ENSG00000009709	8621	https://pubmed.ncbi.nlm.nih.gov/?term=PAX7	None	None	53079	2121
PAX8	paired box 8	Thyroid hypoplasia?0008426;Hypothyroidism, congenital, nongoitrous, 2?0025378;Ectopic thyroid?0016841;Thyroid agenesis?0016842	https://raresource.nih.gov/literature/gene/PAX8	7849	ENSG00000125618	8622	https://pubmed.ncbi.nlm.nih.gov/?term=PAX8	None	None	23706	2393
PAX9	paired box 9	Tooth agenesis, selective, 3?0018247;Hypodontia?0016908	https://raresource.nih.gov/literature/gene/PAX9	5083	ENSG00000198807	8623	https://pubmed.ncbi.nlm.nih.gov/?term=PAX9	None	None	6721	484
PBX1	PBX homeobox 1	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay?0025998	https://raresource.nih.gov/literature/gene/PBX1	5087	ENSG00000185630	8632	https://pubmed.ncbi.nlm.nih.gov/?term=PBX1	None	None	124582	1043
PC	pyruvate carboxylase	Pyruvate carboxylase deficiency, severe neonatal type?0017537;Pyruvate carboxylase deficiency?0007512;Pyruvate carboxylase deficiency, infantile form?0017536;Pyruvate carboxylase deficiency, benign type?0017538	https://raresource.nih.gov/literature/gene/PC	5091	ENSG00000173599	8636	https://pubmed.ncbi.nlm.nih.gov/?term=PC	None	None	45013	7103
PCARE	photoreceptor cilium actin regulator	Retinitis pigmentosa 54?0015662	https://raresource.nih.gov/literature/gene/PCARE	388939	ENSG00000179270	34383	https://pubmed.ncbi.nlm.nih.gov/?term=PCARE	None	None	6813	39
PCBD1	pterin-4 alpha-carbinolamine dehydratase 1	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency?0002843	https://raresource.nih.gov/literature/gene/PCBD1	5092	ENSG00000166228	8646	https://pubmed.ncbi.nlm.nih.gov/?term=PCBD1	None	None	2751	431
PCCA	propionyl-CoA carboxylase subunit alpha	Propionic acidemia?0000467	https://raresource.nih.gov/literature/gene/PCCA	5095	ENSG00000175198	8653	https://pubmed.ncbi.nlm.nih.gov/?term=PCCA	None	None	113607	178
PCCB	propionyl-CoA carboxylase subunit beta	Propionic acidemia?0000467	https://raresource.nih.gov/literature/gene/PCCB	5096	ENSG00000114054	8654	https://pubmed.ncbi.nlm.nih.gov/?term=PCCB	None	None	41176	194
PCDH12	protocadherin 12	Diencephalic-mesencephalic junction dysplasia?0021407;Diencephalic-mesencephalic junction dysplasia syndrome 1?0008510	https://raresource.nih.gov/literature/gene/PCDH12	51294	ENSG00000113555	8657	https://pubmed.ncbi.nlm.nih.gov/?term=PCDH12	None	None	8315	48
PCDH15	protocadherin related 15	Hearing loss, autosomal recessive?0018117;Usher syndrome, type 1D/F?0026025;Usher syndrome type 1D?0005438;Usher syndrome type 1F?0010043;Autosomal recessive nonsyndromic hearing loss 23?0022613	https://raresource.nih.gov/literature/gene/PCDH15	65217	ENSG00000150275	14674	https://pubmed.ncbi.nlm.nih.gov/?term=PCDH15	None	None	398817	310
PCDH19	protocadherin 19	Developmental and epileptic encephalopathy, 9?0010806	https://raresource.nih.gov/literature/gene/PCDH19	57526	ENSG00000165194	14270	https://pubmed.ncbi.nlm.nih.gov/?term=PCDH19	None	None	21610	269
PCGF2	polycomb group ring finger 2	Turnpenny-fry syndrome?0027364	https://raresource.nih.gov/literature/gene/PCGF2	7703	ENSG00000277258	12929	https://pubmed.ncbi.nlm.nih.gov/?term=PCGF2	None	None	5192	123
PCK1	phosphoenolpyruvate carboxykinase 1	Phosphoenolpyruvate carboxykinase (GTP) deficiency?0016613;Phosphoenolpyruvate carboxykinase deficiency, cytosolic?0004278	https://raresource.nih.gov/literature/gene/PCK1	5105	ENSG00000124253	8724	https://pubmed.ncbi.nlm.nih.gov/?term=PCK1	None	None	3523	2707
PCK2	phosphoenolpyruvate carboxykinase 2, mitochondrial	Phosphoenolpyruvate carboxykinase (GTP) deficiency?0016613;Phosphoenolpyruvate carboxykinase deficiency, mitochondrial?0004279	https://raresource.nih.gov/literature/gene/PCK2	5106	ENSG00000100889	8725	https://pubmed.ncbi.nlm.nih.gov/?term=PCK2	None	None	3765	2849
PCLO	piccolo presynaptic cytomatrix protein	Pontocerebellar hypoplasia type 3?0010708	https://raresource.nih.gov/literature/gene/PCLO	27445	ENSG00000186472	13406	https://pubmed.ncbi.nlm.nih.gov/?term=PCLO	None	None	155607	134
PCNA	proliferating cell nuclear antigen	Ataxia-telangiectasia-like disorder 2?0017736	https://raresource.nih.gov/literature/gene/PCNA	5111	ENSG00000132646	8729	https://pubmed.ncbi.nlm.nih.gov/?term=PCNA	None	None	2911	25146
PCNT	pericentrin	Microcephalic osteodysplastic primordial dwarfism type II?0009844	https://raresource.nih.gov/literature/gene/PCNT	5116	ENSG00000160299	16068	https://pubmed.ncbi.nlm.nih.gov/?term=PCNT	None	None	46185	454
PCSK1	proprotein convertase subtilisin/kexin type 1	Obesity due to prohormone convertase I deficiency?0016689	https://raresource.nih.gov/literature/gene/PCSK1	5122	ENSG00000175426	8743	https://pubmed.ncbi.nlm.nih.gov/?term=PCSK1	None	None	17789	1613
PCSK9	proprotein convertase subtilisin/kexin type 9	Homozygous familial hypercholesterolemia?0010416;Hypercholesterolemia, autosomal dominant, 3?0024793	https://raresource.nih.gov/literature/gene/PCSK9	255738	ENSG00000169174	20001	https://pubmed.ncbi.nlm.nih.gov/?term=PCSK9	None	None	10609	6851
PCYT1A	phosphate cytidylyltransferase 1A, choline	Leber congenital amaurosis?0000634;Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome?0010647;Lipodystrophy, congenital generalized, type 5?0026914	https://raresource.nih.gov/literature/gene/PCYT1A	5130	ENSG00000161217	8754	https://pubmed.ncbi.nlm.nih.gov/?term=PCYT1A	None	None	23188	4025
PCYT2	phosphate cytidylyltransferase 2, ethanolamine	Spastic paraplegia 82, autosomal recessive?0025771	https://raresource.nih.gov/literature/gene/PCYT2	5833	ENSG00000185813	8756	https://pubmed.ncbi.nlm.nih.gov/?term=PCYT2	None	None	3910	5856
PDCD10	programmed cell death 10	Hereditary cavernous hemangioma of brain?0013641;Cerebral cavernous malformation 3?0018314	https://raresource.nih.gov/literature/gene/PDCD10	11235	ENSG00000114209	8761	https://pubmed.ncbi.nlm.nih.gov/?term=PDCD10	None	None	19801	435
PDCD6IP	programmed cell death 6 interacting protein	Autosomal recessive primary microcephaly?0012117;Microcephaly 29, primary, autosomal recessive?0025689	https://raresource.nih.gov/literature/gene/PDCD6IP	10015	ENSG00000170248	8766	https://pubmed.ncbi.nlm.nih.gov/?term=PDCD6IP	None	None	25722	1031
PDE10A	phosphodiesterase 10A	Infantile-onset generalized dyskinesia with orofacial involvement?0017905;Childhood-onset benign chorea with striatal involvement?0017906;Striatal degeneration, autosomal dominant 2?0025021	https://raresource.nih.gov/literature/gene/PDE10A	10846	ENSG00000112541	8772	https://pubmed.ncbi.nlm.nih.gov/?term=PDE10A	None	None	256181	626
PDE11A	phosphodiesterase 11A	Pigmented nodular adrenocortical disease, primary, 2?0015489;Isolated micronodular adrenocortical disease?0026992;Isolated primary pigmented nodular adrenocortical disease?0026991	https://raresource.nih.gov/literature/gene/PDE11A	50940	ENSG00000128655	8773	https://pubmed.ncbi.nlm.nih.gov/?term=PDE11A	None	None	203383	157
PDE1C	phosphodiesterase 1C	Autosomal dominant nonsyndromic hearing loss?0016791;Hearing loss, autosomal dominant 74?0018151	https://raresource.nih.gov/literature/gene/PDE1C	5137	ENSG00000154678	8776	https://pubmed.ncbi.nlm.nih.gov/?term=PDE1C	None	None	197104	198
PDE3A	phosphodiesterase 3A	Brachydactyly-arterial hypertension syndrome?0000967	https://raresource.nih.gov/literature/gene/PDE3A	5139	ENSG00000172572	8778	https://pubmed.ncbi.nlm.nih.gov/?term=PDE3A	None	None	79091	454
PDE4D	phosphodiesterase 4D	Chromosome 5q12 deletion syndrome?0017742;Acrodysostosis 2 with or without hormone resistance?0015823;Acrodysostosis?0005724	https://raresource.nih.gov/literature/gene/PDE4D	5144	ENSG00000113448	8783	https://pubmed.ncbi.nlm.nih.gov/?term=PDE4D	None	None	553371	915
PDE6A	phosphodiesterase 6A	PDE6A-related retinopathy?0026376;Retinitis pigmentosa 43?0015716	https://raresource.nih.gov/literature/gene/PDE6A	5145	ENSG00000132915	8785	https://pubmed.ncbi.nlm.nih.gov/?term=PDE6A	None	None	37499	146
PDE6B	phosphodiesterase 6B	Congenital stationary night blindness?0025068;Congenital stationary night blindness autosomal dominant 2?0015096;Retinitis pigmentosa 40?0015709	https://raresource.nih.gov/literature/gene/PDE6B	5158	ENSG00000133256	8786	https://pubmed.ncbi.nlm.nih.gov/?term=PDE6B	None	None	22943	500
PDE6C	phosphodiesterase 6C	Cone dystrophy 4?0016449;PDE6C-related retinopathy?0027235;Cone dystrophy?0011897;Achromatopsia?0015015	https://raresource.nih.gov/literature/gene/PDE6C	5146	ENSG00000095464	8787	https://pubmed.ncbi.nlm.nih.gov/?term=PDE6C	None	None	22149	144
PDE6D	phosphodiesterase 6D	Joubert syndrome?0006802;Joubert syndrome 22?0015999	https://raresource.nih.gov/literature/gene/PDE6D	5147	ENSG00000156973	8788	https://pubmed.ncbi.nlm.nih.gov/?term=PDE6D	None	None	19278	83
PDE6G	phosphodiesterase 6G	PDE6G-related retinopathy?0027237;Retinitis pigmentosa 57?0015679;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/PDE6G	5148	ENSG00000185527	8789	https://pubmed.ncbi.nlm.nih.gov/?term=PDE6G	None	None	4837	48
PDE6H	phosphodiesterase 6H	Retinal cone dystrophy 3A?0010648;Achromatopsia?0015015	https://raresource.nih.gov/literature/gene/PDE6H	5149	ENSG00000139053	8790	https://pubmed.ncbi.nlm.nih.gov/?term=PDE6H	None	None	3357	59
PDE8B	phosphodiesterase 8B	Striatal degeneration, autosomal dominant?0017146;Isolated micronodular adrenocortical disease?0026992;Pigmented nodular adrenocortical disease, primary, 3?0015769;Autosomal dominant striatal neurodegeneration type 1?0024853	https://raresource.nih.gov/literature/gene/PDE8B	8622	ENSG00000113231	8794	https://pubmed.ncbi.nlm.nih.gov/?term=PDE8B	None	None	76421	121
PDGFB	platelet derived growth factor subunit B	Bilateral striopallidodentate calcinosis?0006406;Familial meningioma?0018385;Meningioma?0007015;Basal ganglia calcification, idiopathic, 5?0015973	https://raresource.nih.gov/literature/gene/PDGFB	5155	ENSG00000100311	8800	https://pubmed.ncbi.nlm.nih.gov/?term=PDGFB	None	None	8968	1785
PDGFRA	platelet derived growth factor receptor alpha	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal?0015106;Idiopathic hypereosinophilic syndrome?0016625	https://raresource.nih.gov/literature/gene/PDGFRA	5156	ENSG00000134853	8803	https://pubmed.ncbi.nlm.nih.gov/?term=PDGFRA	None	None	33930	3949
PDGFRB	platelet derived growth factor receptor beta	Bilateral striopallidodentate calcinosis?0006406;Myofibromatosis, infantile, 1?0024654;Basal ganglia calcification, idiopathic, 4?0015893;Acroosteolysis-keloid-like lesions-premature aging syndrome?0004276;Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome?0017860;Infantile myofibromatosis?0002998	https://raresource.nih.gov/literature/gene/PDGFRB	5159	ENSG00000113721	8804	https://pubmed.ncbi.nlm.nih.gov/?term=PDGFRB	None	None	19281	7211
PDGFRL	platelet derived growth factor receptor like	Hepatocellular carcinoma?0016773	https://raresource.nih.gov/literature/gene/PDGFRL	5157	ENSG00000104213	8805	https://pubmed.ncbi.nlm.nih.gov/?term=PDGFRL	None	None	38569	41
PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	Pyruvate dehydrogenase E1-alpha deficiency?0004620	https://raresource.nih.gov/literature/gene/PDHA1	5160	ENSG00000131828	8806	https://pubmed.ncbi.nlm.nih.gov/?term=PDHA1	None	None	4324	662
PDHB	pyruvate dehydrogenase E1 subunit beta	Pyruvate dehydrogenase E1-beta deficiency?0017236	https://raresource.nih.gov/literature/gene/PDHB	5162	ENSG00000168291	8808	https://pubmed.ncbi.nlm.nih.gov/?term=PDHB	None	None	3336	309
PDHX	pyruvate dehydrogenase complex component X	Pyruvate dehydrogenase E3-binding protein deficiency?0017237	https://raresource.nih.gov/literature/gene/PDHX	8050	ENSG00000110435	21350	https://pubmed.ncbi.nlm.nih.gov/?term=PDHX	None	None	38295	2265
PDK3	pyruvate dehydrogenase kinase 3	Charcot-Marie-Tooth disease X-linked dominant 6?0012445	https://raresource.nih.gov/literature/gene/PDK3	5165	ENSG00000067992	8811	https://pubmed.ncbi.nlm.nih.gov/?term=PDK3	None	None	14722	126
PDP1	pyruvate dehydrogenase phosphatase catalytic subunit 1	Pyruvate dehydrogenase phosphatase deficiency?0009888	https://raresource.nih.gov/literature/gene/PDP1	54704	ENSG00000164951	9279	https://pubmed.ncbi.nlm.nih.gov/?term=PDP1	None	None	26200	2065
PDSS1	decaprenyl diphosphate synthase subunit 1	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome?0017230	https://raresource.nih.gov/literature/gene/PDSS1	23590	ENSG00000148459	17759	https://pubmed.ncbi.nlm.nih.gov/?term=PDSS1	None	None	18510	1271
PDSS2	decaprenyl diphosphate synthase subunit 2	Coenzyme Q10 deficiency, primary, 3?0018379	https://raresource.nih.gov/literature/gene/PDSS2	57107	ENSG00000164494	23041	https://pubmed.ncbi.nlm.nih.gov/?term=PDSS2	None	None	117448	162
PDX1	pancreatic and duodenal homeobox 1	Pancreatic agenesis?0004203;Maturity onset diabetes mellitus in young?0003697;Maturity-onset diabetes of the young type 4?0010659;Permanent neonatal diabetes mellitus?0010457;Pancreatic agenesis 1?0015220	https://raresource.nih.gov/literature/gene/PDX1	3651	ENSG00000139515	6107	https://pubmed.ncbi.nlm.nih.gov/?term=PDX1	None	None	3241	3654
PDXK	pyridoxal kinase	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy?0025745	https://raresource.nih.gov/literature/gene/PDXK	8566	ENSG00000160209	8819	https://pubmed.ncbi.nlm.nih.gov/?term=PDXK	None	None	15235	497
PDYN	prodynorphin	Spinocerebellar ataxia type 23?0009950	https://raresource.nih.gov/literature/gene/PDYN	5173	ENSG00000101327	8820	https://pubmed.ncbi.nlm.nih.gov/?term=PDYN	None	None	5014	2410
PDZD7	PDZ domain containing 7	Usher syndrome type 2C?0008497;Hearing loss, autosomal recessive 57?0025788	https://raresource.nih.gov/literature/gene/PDZD7	79955	ENSG00000186862	26257	https://pubmed.ncbi.nlm.nih.gov/?term=PDZD7	None	None	11716	52
PEPD	peptidase D	Prolidase deficiency?0007473	https://raresource.nih.gov/literature/gene/PEPD	5184	ENSG00000124299	8840	https://pubmed.ncbi.nlm.nih.gov/?term=PEPD	None	None	35641	871
PER2	period circadian regulator 2	Advanced sleep phase syndrome?0009242;Advanced sleep phase syndrome 1?0015368	https://raresource.nih.gov/literature/gene/PER2	8864	ENSG00000132326	8846	https://pubmed.ncbi.nlm.nih.gov/?term=PER2	None	None	19660	2538
PER3	period circadian regulator 3	Advanced sleep phase syndrome?0009242;Advanced sleep phase syndrome 3?0016165	https://raresource.nih.gov/literature/gene/PER3	8863	ENSG00000049246	8847	https://pubmed.ncbi.nlm.nih.gov/?term=PER3	None	None	26673	725
PERP	p53 apoptosis effector related to PMP22	Olmsted syndrome 2?0016437;Erythrokeratodermia variabilis et progressiva 7?0018674;Olmsted syndrome?0004075	https://raresource.nih.gov/literature/gene/PERP	64065	ENSG00000112378	17637	https://pubmed.ncbi.nlm.nih.gov/?term=PERP	None	None	7748	152
PET100	PET100 cytochrome c oxidase chaperone	Mitochondrial complex IV deficiency, nuclear type 12?0016410	https://raresource.nih.gov/literature/gene/PET100	100131801	ENSG00000229833	40038	https://pubmed.ncbi.nlm.nih.gov/?term=PET100	None	None	789	12
PET117	PET117 cytochrome c oxidase chaperone	Mitochondrial complex IV deficiency, nuclear type 19?0016416	https://raresource.nih.gov/literature/gene/PET117	100303755	ENSG00000232838	40045	https://pubmed.ncbi.nlm.nih.gov/?term=PET117	None	None	2756	18
PEX1	peroxisomal biogenesis factor 1	Zellweger spectrum disorders?0007917;Peroxisome biogenesis disorder 1B?0024772;Peroxisome biogenesis disorder 1A (Zellweger)?0024644;Peroxisome biogenesis disorder due to PEX1 defect?0026101	https://raresource.nih.gov/literature/gene/PEX1	5189	ENSG00000127980	8850	https://pubmed.ncbi.nlm.nih.gov/?term=PEX1	None	None	15512	234
PEX10	peroxisomal biogenesis factor 10	Peroxisome biogenesis disorder 6A (Zellweger)?0015864;Zellweger spectrum disorders?0007917;Peroxisome biogenesis disorder due to PEX10 defect?0026106;Autosomal recessive ataxia due to PEX10 deficiency?0020666;Peroxisome biogenesis disorder 6B?0015865	https://raresource.nih.gov/literature/gene/PEX10	5192	ENSG00000157911	8851	https://pubmed.ncbi.nlm.nih.gov/?term=PEX10	None	None	4641	146
PEX11B	peroxisomal biogenesis factor 11 beta	Zellweger spectrum disorders?0007917;Peroxisome biogenesis disorder 14B?0015881;Peroxisome biogenesis disorder due to PEX11B defect?0026121	https://raresource.nih.gov/literature/gene/PEX11B	8799	ENSG00000131779	8853	https://pubmed.ncbi.nlm.nih.gov/?term=PEX11B	None	None	3643	44
PEX12	peroxisomal biogenesis factor 12	Zellweger spectrum disorders?0007917;Peroxisome biogenesis disorder type 3B?0015226;Peroxisome biogenesis disorder due to PEX12 defect?0026108;Peroxisome biogenesis disorder 3A (Zellweger)?0015858	https://raresource.nih.gov/literature/gene/PEX12	5193	ENSG00000108733	8854	https://pubmed.ncbi.nlm.nih.gov/?term=PEX12	None	None	2228	65
PEX13	peroxisomal biogenesis factor 13	Zellweger spectrum disorders?0007917;Peroxisome biogenesis disorder 11A (Zellweger)?0015874;Peroxisome biogenesis disorder 11B?0015875;Peroxisome biogenesis disorder due to PEX13 defect?0026109	https://raresource.nih.gov/literature/gene/PEX13	5194	ENSG00000162928	8855	https://pubmed.ncbi.nlm.nih.gov/?term=PEX13	None	None	15025	143
PEX14	peroxisomal biogenesis factor 14	Zellweger spectrum disorders?0007917;Peroxisome biogenesis disorder due to PEX14 defect?0026110;Peroxisome biogenesis disorder 13A (Zellweger)?0015877	https://raresource.nih.gov/literature/gene/PEX14	5195	ENSG00000142655	8856	https://pubmed.ncbi.nlm.nih.gov/?term=PEX14	None	None	61245	295
PEX16	peroxisomal biogenesis factor 16	Peroxisome biogenesis disorder 8B?0015870;Peroxisome biogenesis disorder due to PEX16 defect?0026111;Zellweger spectrum disorders?0007917;Autosomal recessive ataxia due to PEX16 deficiency?0026830;Peroxisome biogenesis disorder 8A (Zellweger)?0015869	https://raresource.nih.gov/literature/gene/PEX16	9409	ENSG00000121680	8857	https://pubmed.ncbi.nlm.nih.gov/?term=PEX16	None	None	4184	80
PEX19	peroxisomal biogenesis factor 19	Peroxisome biogenesis disorder due to PEX19 defect?0026112;Peroxisome biogenesis disorder 12A (Zellweger)?0015876;Zellweger spectrum disorders?0007917	https://raresource.nih.gov/literature/gene/PEX19	5824	ENSG00000162735	9713	https://pubmed.ncbi.nlm.nih.gov/?term=PEX19	None	None	4295	212
PEX2	peroxisomal biogenesis factor 2	Zellweger spectrum disorders?0007917;Peroxisome biogenesis disorder 5B?0015862;Autosomal recessive ataxia due to PEX2 deficiency?0026831;Peroxisome biogenesis disorder due to PEX2 defect?0026102;Peroxisome biogenesis disorder 5A (Zellweger)?0015861	https://raresource.nih.gov/literature/gene/PEX2	5828	ENSG00000164751	9717	https://pubmed.ncbi.nlm.nih.gov/?term=PEX2	None	None	9500	363
PEX26	peroxisomal biogenesis factor 26	Zellweger spectrum disorders?0007917;Peroxisome biogenesis disorder 7B?0015867;Peroxisome biogenesis disorder due to PEX26 defect?0026113;Peroxisome biogenesis disorder 7A (Zellweger)?0015866	https://raresource.nih.gov/literature/gene/PEX26	55670	ENSG00000215193	22965	https://pubmed.ncbi.nlm.nih.gov/?term=PEX26	None	None	9758	53
PEX3	peroxisomal biogenesis factor 3	Peroxisome biogenesis disorder 10B?0025945;Zellweger spectrum disorders?0007917;Peroxisome biogenesis disorder due to PEX3 defect?0026103;Peroxisome biogenesis disorder 10A (Zellweger)?0015873	https://raresource.nih.gov/literature/gene/PEX3	8504	ENSG00000034693	8858	https://pubmed.ncbi.nlm.nih.gov/?term=PEX3	None	None	14439	187
PEX5	peroxisomal biogenesis factor 5	Rhizomelic chondrodysplasia punctata type 5?0013320;Peroxisome biogenesis disorder 2A (Zellweger)?0015149;Zellweger spectrum disorders?0007917;Peroxisome biogenesis disorder due to PEX5 defect?0026104;Peroxisome biogenesis disorder 2B?0015134	https://raresource.nih.gov/literature/gene/PEX5	5830	ENSG00000139197	9719	https://pubmed.ncbi.nlm.nih.gov/?term=PEX5	None	None	12294	420
PEX6	peroxisomal biogenesis factor 6	Zellweger spectrum disorders?0007917;Peroxisome biogenesis disorder 4B?0015860;Peroxisome biogenesis disorder due to PEX6 defect?0026105;Peroxisome biogenesis disorder 4A (Zellweger)?0015859	https://raresource.nih.gov/literature/gene/PEX6	5190	ENSG00000124587	8859	https://pubmed.ncbi.nlm.nih.gov/?term=PEX6	None	None	8828	172
PEX7	peroxisomal biogenesis factor 7	Peroxisome biogenesis disorder 9B?0015871;Phytanic acid storage disease?0005691;Rhizomelic chondrodysplasia punctata type 1?0006049;Peroxisome biogenesis disorder due to PEX7 defect?0026114	https://raresource.nih.gov/literature/gene/PEX7	5191	ENSG00000112357	8860	https://pubmed.ncbi.nlm.nih.gov/?term=PEX7	None	None	35691	16
PFKM	phosphofructokinase, muscle	Glycogen storage disease, type VII?0005686	https://raresource.nih.gov/literature/gene/PFKM	5213	ENSG00000152556	8877	https://pubmed.ncbi.nlm.nih.gov/?term=PFKM	None	None	10384	1109
PFN1	profilin 1	Amyotrophic lateral sclerosis type 18?0015841;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/PFN1	5216	ENSG00000108518	8881	https://pubmed.ncbi.nlm.nih.gov/?term=PFN1	None	None	1534	581
PGAM2	phosphoglycerate mutase 2	Glycogen storage disease type X?0009964	https://raresource.nih.gov/literature/gene/PGAM2	5224	ENSG00000164708	8889	https://pubmed.ncbi.nlm.nih.gov/?term=PGAM2	None	None	2025	117
PGAP1	post-GPI attachment to proteins inositol deacylase 1	Autosomal recessive spastic paraplegia type 67?0021698;Autosomal recessive non-syndromic intellectual disability?0018643;Intellectual disability, autosomal recessive 42?0022564	https://raresource.nih.gov/literature/gene/PGAP1	80055	ENSG00000197121	25712	https://pubmed.ncbi.nlm.nih.gov/?term=PGAP1	None	None	34903	178
PGAP2	post-GPI attachment to proteins 2	Hyperphosphatasia with intellectual disability syndrome 3?0018350;Hyperphosphatasia-intellectual disability syndrome?0017188	https://raresource.nih.gov/literature/gene/PGAP2	27315	ENSG00000148985	17893	https://pubmed.ncbi.nlm.nih.gov/?term=PGAP2	None	None	12410	53
PGAP3	post-GPI attachment to proteins phospholipase 3	Hyperphosphatasia with intellectual disability syndrome 4?0018352;Hyperphosphatasia-intellectual disability syndrome?0017188	https://raresource.nih.gov/literature/gene/PGAP3	93210	ENSG00000161395	23719	https://pubmed.ncbi.nlm.nih.gov/?term=PGAP3	None	None	5406	120
PGK1	phosphoglycerate kinase 1	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency?0007389	https://raresource.nih.gov/literature/gene/PGK1	5230	ENSG00000102144	8896	https://pubmed.ncbi.nlm.nih.gov/?term=PGK1	None	None	15533	1344
PGM1	phosphoglucomutase 1	PGM1-congenital disorder of glycosylation?0004329	https://raresource.nih.gov/literature/gene/PGM1	5236	ENSG00000079739	8905	https://pubmed.ncbi.nlm.nih.gov/?term=PGM1	None	None	25943	1012
PGM3	phosphoglucomutase 3	Immunodeficiency 23?0004331	https://raresource.nih.gov/literature/gene/PGM3	5238	ENSG00000013375	8907	https://pubmed.ncbi.nlm.nih.gov/?term=PGM3	None	None	8881	279
PGRMC1	progesterone receptor membrane component 1	Congenital total cataract?0001159	https://raresource.nih.gov/literature/gene/PGRMC1	10857	ENSG00000101856	16090	https://pubmed.ncbi.nlm.nih.gov/?term=PGRMC1	None	None	1950	946
PHACTR1	phosphatase and actin regulator 1	Developmental and epileptic encephalopathy, 70?0016336	https://raresource.nih.gov/literature/gene/PHACTR1	221692	ENSG00000112137	20990	https://pubmed.ncbi.nlm.nih.gov/?term=PHACTR1	None	None	206877	154
PHB1	prohibitin 1	Familial cancer of breast?0017142	https://raresource.nih.gov/literature/gene/PHB1	5245	ENSG00000167085	8912	https://pubmed.ncbi.nlm.nih.gov/?term=PHB1	None	None	None	1269
PHC1	polyhomeotic homolog 1	Microcephaly 11, primary, autosomal recessive?0024977;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/PHC1	1911	ENSG00000111752	3182	https://pubmed.ncbi.nlm.nih.gov/?term=PHC1	None	None	7375	123
PHEX	phosphate regulating endopeptidase X-linked	Familial X-linked hypophosphatemic vitamin D refractory rickets?0012943	https://raresource.nih.gov/literature/gene/PHEX	5251	ENSG00000102174	8918	https://pubmed.ncbi.nlm.nih.gov/?term=PHEX	None	None	41017	1144
PHF6	PHD finger protein 6	Borjeson-Forssman-Lehmann syndrome?0000936	https://raresource.nih.gov/literature/gene/PHF6	84295	ENSG00000156531	18145	https://pubmed.ncbi.nlm.nih.gov/?term=PHF6	None	None	10128	319
PHF8	PHD finger protein 8	Syndromic X-linked intellectual disability Siderius type?0009704	https://raresource.nih.gov/literature/gene/PHF8	23133	ENSG00000172943	20672	https://pubmed.ncbi.nlm.nih.gov/?term=PHF8	None	None	23021	175
PHGDH	phosphoglycerate dehydrogenase	Neu-Laxova syndrome 1?0022336;PHGDH deficiency?0016718	https://raresource.nih.gov/literature/gene/PHGDH	26227	ENSG00000092621	8923	https://pubmed.ncbi.nlm.nih.gov/?term=PHGDH	None	None	36289	5696
PHIP	PHIP subunit of CUL4-Ring ligase complex	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome?0022367	https://raresource.nih.gov/literature/gene/PHIP	55023	ENSG00000146247	15673	https://pubmed.ncbi.nlm.nih.gov/?term=PHIP	None	None	54991	146
PHKA1	phosphorylase kinase regulatory subunit alpha 1	Glycogen storage disease IXd?0003858	https://raresource.nih.gov/literature/gene/PHKA1	5255	ENSG00000067177	8925	https://pubmed.ncbi.nlm.nih.gov/?term=PHKA1	None	None	23193	61
PHKA2	phosphorylase kinase regulatory subunit alpha 2	Glycogen storage disease IXa1?0018386;Glycogen storage disease due to liver phosphorylase kinase deficiency?0017261	https://raresource.nih.gov/literature/gene/PHKA2	5256	ENSG00000044446	8926	https://pubmed.ncbi.nlm.nih.gov/?term=PHKA2	None	None	16981	468
PHKB	phosphorylase kinase regulatory subunit beta	Glycogen storage disease IXb?0016711	https://raresource.nih.gov/literature/gene/PHKB	5257	ENSG00000102893	8927	https://pubmed.ncbi.nlm.nih.gov/?term=PHKB	None	None	52549	66
PHKG2	phosphorylase kinase catalytic subunit gamma 2	Glycogen storage disease IXc?0018387;Glycogen storage disease due to liver phosphorylase kinase deficiency?0017261	https://raresource.nih.gov/literature/gene/PHKG2	5261	ENSG00000156873	8931	https://pubmed.ncbi.nlm.nih.gov/?term=PHKG2	None	None	3764	58
PHLDB1	pleckstrin homology like domain family B member 1	Osteogenesis imperfecta, type 23?0026901	https://raresource.nih.gov/literature/gene/PHLDB1	23187	ENSG00000019144	23697	https://pubmed.ncbi.nlm.nih.gov/?term=PHLDB1	None	None	4428	44
PHOX2A	paired like homeobox 2A	Fibrosis of extraocular muscles, congenital, 2?0015341;Congenital fibrosis of extraocular muscles?0012590	https://raresource.nih.gov/literature/gene/PHOX2A	401	ENSG00000165462	691	https://pubmed.ncbi.nlm.nih.gov/?term=PHOX2A	None	None	2465	275
PHOX2B	paired like homeobox 2B	Haddad syndrome?0016909;Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease?0008535	https://raresource.nih.gov/literature/gene/PHOX2B	8929	ENSG00000109132	9143	https://pubmed.ncbi.nlm.nih.gov/?term=PHOX2B	None	None	5553	851
PHYH	phytanoyl-CoA 2-hydroxylase	Phytanic acid storage disease?0005691;Phytanoyl-CoA hydroxylase deficiency?0026100	https://raresource.nih.gov/literature/gene/PHYH	5264	ENSG00000107537	8940	https://pubmed.ncbi.nlm.nih.gov/?term=PHYH	None	None	12393	375
PI4KA	phosphatidylinositol 4-kinase alpha	Gastrointestinal defects and immunodeficiency syndrome 2?0027133;Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis?0016130;Spastic paraplegia 84, autosomal recessive?0025577;Congenital bilateral perisylvian syndrome?0006011	https://raresource.nih.gov/literature/gene/PI4KA	5297	ENSG00000241973	8983	https://pubmed.ncbi.nlm.nih.gov/?term=PI4KA	None	None	41439	118
PI4KB	phosphatidylinositol 4-kinase beta	Hearing loss, autosomal dominant 87?0026737	https://raresource.nih.gov/literature/gene/PI4KB	5298	ENSG00000143393	8984	https://pubmed.ncbi.nlm.nih.gov/?term=PI4KB	None	None	6161	314
PIBF1	progesterone immunomodulatory binding factor 1	Joubert syndrome?0006802;Joubert syndrome 33?0025793	https://raresource.nih.gov/literature/gene/PIBF1	10464	ENSG00000083535	23352	https://pubmed.ncbi.nlm.nih.gov/?term=PIBF1	None	None	81265	189
PICALM	phosphatidylinositol binding clathrin assembly protein	Acute myeloid leukemia?0012757	https://raresource.nih.gov/literature/gene/PICALM	8301	ENSG00000073921	15514	https://pubmed.ncbi.nlm.nih.gov/?term=PICALM	None	None	42948	2435
PICK1	protein interacting with PRKCA 1	Male infertility due to globozoospermia?0012502	https://raresource.nih.gov/literature/gene/PICK1	9463	ENSG00000100151	9394	https://pubmed.ncbi.nlm.nih.gov/?term=PICK1	None	None	7001	411
PIDD1	p53-induced death domain protein 1	Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly?0025637	https://raresource.nih.gov/literature/gene/PIDD1	55367	ENSG00000177595	16491	https://pubmed.ncbi.nlm.nih.gov/?term=PIDD1	None	None	2887	155
PIEZO1	piezo type mechanosensitive ion channel component 1 (Er blood group)	Xerocytosis?0005623;Lymphatic malformation 6?0022301;Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema?0015126	https://raresource.nih.gov/literature/gene/PIEZO1	9780	ENSG00000103335	28993	https://pubmed.ncbi.nlm.nih.gov/?term=PIEZO1	None	None	30820	30247
PIEZO2	piezo type mechanosensitive ion channel component 2	Marden-Walker syndrome?0006973;Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome?0004047;Gordon syndrome?0002553;Arthrogryposis, distal, with impaired proprioception and touch?0025036	https://raresource.nih.gov/literature/gene/PIEZO2	63895	ENSG00000154864	26270	https://pubmed.ncbi.nlm.nih.gov/?term=PIEZO2	None	None	119796	532
PIGA	phosphatidylinositol glycan anchor biosynthesis class A	Paroxysmal nocturnal hemoglobinuria 1?0024726;Multiple congenital anomalies-hypotonia-seizures syndrome 2?0012777;Malignant migrating partial seizures of infancy?0012919;Paroxysmal nocturnal hemoglobinuria?0007337;Ferro-cerebro-cutaneous syndrome?0021637	https://raresource.nih.gov/literature/gene/PIGA	5277	ENSG00000165195	8957	https://pubmed.ncbi.nlm.nih.gov/?term=PIGA	None	None	3523	850
PIGB	phosphatidylinositol glycan anchor biosynthesis class B	Developmental and epileptic encephalopathy, 80?0025754	https://raresource.nih.gov/literature/gene/PIGB	9488	ENSG00000069943	8959	https://pubmed.ncbi.nlm.nih.gov/?term=PIGB	None	None	9226	42
PIGC	phosphatidylinositol glycan anchor biosynthesis class C	Glycosylphosphatidylinositol biosynthesis defect 16?0022577;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/PIGC	5279	ENSG00000135845	8960	https://pubmed.ncbi.nlm.nih.gov/?term=PIGC	None	None	2325	71
PIGG	phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)	Intellectual disability, autosomal recessive 53?0017897	https://raresource.nih.gov/literature/gene/PIGG	54872	ENSG00000174227	25985	https://pubmed.ncbi.nlm.nih.gov/?term=PIGG	None	None	18117	524
PIGH	phosphatidylinositol glycan anchor biosynthesis class H	Glycosylphosphatidylinositol biosynthesis defect 17?0026006	https://raresource.nih.gov/literature/gene/PIGH	5283	ENSG00000100564	8964	https://pubmed.ncbi.nlm.nih.gov/?term=PIGH	None	None	3374	24
PIGK	phosphatidylinositol glycan anchor biosynthesis class K	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures?0025514	https://raresource.nih.gov/literature/gene/PIGK	10026	ENSG00000142892	8965	https://pubmed.ncbi.nlm.nih.gov/?term=PIGK	None	None	42394	60
PIGL	phosphatidylinositol glycan anchor biosynthesis class L	CHIME syndrome?0000310;Hyperphosphatasia-intellectual disability syndrome?0017188	https://raresource.nih.gov/literature/gene/PIGL	9487	ENSG00000108474	8966	https://pubmed.ncbi.nlm.nih.gov/?term=PIGL	None	None	34753	49
PIGM	phosphatidylinositol glycan anchor biosynthesis class M	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency?0009965	https://raresource.nih.gov/literature/gene/PIGM	93183	ENSG00000143315	18858	https://pubmed.ncbi.nlm.nih.gov/?term=PIGM	None	None	684	68
PIGN	phosphatidylinositol glycan anchor biosynthesis class N	Fryns syndrome?0003699;Multiple congenital anomalies-hypotonia-seizures syndrome 1?0012781	https://raresource.nih.gov/literature/gene/PIGN	23556	ENSG00000197563	8967	https://pubmed.ncbi.nlm.nih.gov/?term=PIGN	None	None	38095	112
PIGO	phosphatidylinositol glycan anchor biosynthesis class O	Hyperphosphatasia with intellectual disability syndrome 2?0018351;Hyperphosphatasia-intellectual disability syndrome?0017188	https://raresource.nih.gov/literature/gene/PIGO	84720	ENSG00000165282	23215	https://pubmed.ncbi.nlm.nih.gov/?term=PIGO	None	None	5022	35
PIGP	phosphatidylinositol glycan anchor biosynthesis class P	Developmental and epileptic encephalopathy, 55?0016241	https://raresource.nih.gov/literature/gene/PIGP	51227	ENSG00000185808	3046	https://pubmed.ncbi.nlm.nih.gov/?term=PIGP	None	None	5040	95
PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	Developmental and epileptic encephalopathy, 77?0016363	https://raresource.nih.gov/literature/gene/PIGQ	9091	ENSG00000007541	14135	https://pubmed.ncbi.nlm.nih.gov/?term=PIGQ	None	None	10061	68
PIGS	phosphatidylinositol glycan anchor biosynthesis class S	Glycosylphosphatidylinositol biosynthesis defect 18?0025503	https://raresource.nih.gov/literature/gene/PIGS	94005	ENSG00000087111	14937	https://pubmed.ncbi.nlm.nih.gov/?term=PIGS	None	None	4946	104
PIGT	phosphatidylinositol glycan anchor biosynthesis class T	Multiple congenital anomalies-hypotonia-seizures syndrome 3?0017584;Paroxysmal nocturnal hemoglobinuria 2?0015958	https://raresource.nih.gov/literature/gene/PIGT	51604	ENSG00000124155	14938	https://pubmed.ncbi.nlm.nih.gov/?term=PIGT	None	None	11673	73
PIGV	phosphatidylinositol glycan anchor biosynthesis class V	Hyperphosphatasia with intellectual disability syndrome 1?0018349;Hyperphosphatasia-intellectual disability syndrome?0017188	https://raresource.nih.gov/literature/gene/PIGV	55650	ENSG00000060642	26031	https://pubmed.ncbi.nlm.nih.gov/?term=PIGV	None	None	5354	42
PIGW	phosphatidylinositol glycan anchor biosynthesis class W	Hyperphosphatasia with intellectual disability syndrome 5?0018353;Hyperphosphatasia-intellectual disability syndrome?0017188	https://raresource.nih.gov/literature/gene/PIGW	284098	ENSG00000277161	23213	https://pubmed.ncbi.nlm.nih.gov/?term=PIGW	None	None	2161	58
PIGY	phosphatidylinositol glycan anchor biosynthesis class Y	Hyperphosphatasia with intellectual disability syndrome 6?0018354;Hyperphosphatasia-intellectual disability syndrome?0017188	https://raresource.nih.gov/literature/gene/PIGY	84992	ENSG00000255072	28213	https://pubmed.ncbi.nlm.nih.gov/?term=PIGY	None	None	100	21
PIK3C2A	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	Oculocerebrodental syndrome?0017993	https://raresource.nih.gov/literature/gene/PIK3C2A	5286	ENSG00000011405	8971	https://pubmed.ncbi.nlm.nih.gov/?term=PIK3C2A	None	None	50133	3811
PIK3CA	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia?0021384;Gastric cancer?0007704;Macrodactyly of fingers, unilateral?0021227;Cowden syndrome 5?0016464;Macrodactyly of toes, unilateral?0021229;Adult hepatocellular carcinoma?0006608;Cowden syndrome?0006202;Megalencephaly-capillary malformation-polymicrogyria syndrome?0006950;Epidermal nevus?0024601;Familial cancer of breast?0017142;Hereditary cavernous hemangioma of brain?0013641;Hemimegalencephaly?0002637;Hemihyperplasia-multiple lipomatosis syndrome?0021051;Hemifacial myohyperplasia?0010084;Meningioma?0007015;Congenital macrodactylia?0024591;Cerebral cavernous malformation 4?0026665;CLOVES syndrome?0010939;CLAPO syndrome?0017044;Hepatocellular carcinoma?0016773	https://raresource.nih.gov/literature/gene/PIK3CA	5290	ENSG00000121879	8975	https://pubmed.ncbi.nlm.nih.gov/?term=PIK3CA	None	None	38207	75396
PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	Immunodeficiency 14?0015979;Combined immunodeficiency with faciooculoskeletal anomalies?0017139;Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/PIK3CD	5293	ENSG00000171608	8977	https://pubmed.ncbi.nlm.nih.gov/?term=PIK3CD	None	None	37134	68688
PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	Immunodeficiency 36 with lymphoproliferation?0016046;SHORT syndrome?0007633;Autosomal agammaglobulinemia?0009640;Agammaglobulinemia 7, autosomal recessive?0015918	https://raresource.nih.gov/literature/gene/PIK3R1	5295	ENSG00000145675	8979	https://pubmed.ncbi.nlm.nih.gov/?term=PIK3R1	None	None	40975	3384
PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1?0018077;Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?0010341	https://raresource.nih.gov/literature/gene/PIK3R2	5296	ENSG00000105647	8980	https://pubmed.ncbi.nlm.nih.gov/?term=PIK3R2	None	None	7978	2197
PIK3R5	phosphoinositide-3-kinase regulatory subunit 5	Ataxia with oculomotor apraxia type 3?0013112	https://raresource.nih.gov/literature/gene/PIK3R5	23533	ENSG00000141506	30035	https://pubmed.ncbi.nlm.nih.gov/?term=PIK3R5	None	None	22071	135
PIKFYVE	phosphoinositide kinase, FYVE-type zinc finger containing	Fleck corneal dystrophy?0016879	https://raresource.nih.gov/literature/gene/PIKFYVE	200576	ENSG00000115020	23785	https://pubmed.ncbi.nlm.nih.gov/?term=PIKFYVE	None	None	36011	864
PINK1	PTEN induced kinase 1	Young-onset Parkinson disease?0016610;Autosomal recessive early-onset Parkinson disease 6?0018605	https://raresource.nih.gov/literature/gene/PINK1	65018	ENSG00000158828	14581	https://pubmed.ncbi.nlm.nih.gov/?term=PINK1	None	None	8057	4972
PIP5K1C	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	Lethal congenital contracture syndrome 3?0012644	https://raresource.nih.gov/literature/gene/PIP5K1C	23396	ENSG00000186111	8996	https://pubmed.ncbi.nlm.nih.gov/?term=PIP5K1C	None	None	28354	88
PISD	phosphatidylserine decarboxylase	Liberfarb syndrome?0022350	https://raresource.nih.gov/literature/gene/PISD	23761	ENSG00000241878	8999	https://pubmed.ncbi.nlm.nih.gov/?term=PISD	None	None	17822	296
PITPNM3	PITPNM family member 3	Cone-rod dystrophy?0010790;Cone-rod dystrophy 5?0010655	https://raresource.nih.gov/literature/gene/PITPNM3	83394	ENSG00000091622	21043	https://pubmed.ncbi.nlm.nih.gov/?term=PITPNM3	None	None	30067	72
PITRM1	pitrilysin metallopeptidase 1	Spinocerebellar ataxia, autosomal recessive 30?0025537	https://raresource.nih.gov/literature/gene/PITRM1	10531	ENSG00000107959	17663	https://pubmed.ncbi.nlm.nih.gov/?term=PITRM1	None	None	8398	425
PITX1	paired like homeodomain 1	Brachydactyly-elbow wrist dysplasia syndrome?0000966;Familial clubfoot due to PITX1 point mutation?0017337	https://raresource.nih.gov/literature/gene/PITX1	5307	ENSG00000069011	9004	https://pubmed.ncbi.nlm.nih.gov/?term=PITX1	None	None	4846	727
PITX2	paired like homeodomain 2	Axenfeld-Rieger syndrome?0005701;Axenfeld-Rieger syndrome type 1?0010281;Anterior segment dysgenesis 4?0003026;Ring dermoid of cornea?0009696;Familial atrial fibrillation?0009740;Axenfeld anomaly?0016485;Rieger anomaly?0016482	https://raresource.nih.gov/literature/gene/PITX2	5308	ENSG00000164093	9005	https://pubmed.ncbi.nlm.nih.gov/?term=PITX2	None	None	10936	2444
PITX3	paired like homeodomain 3	Anterior segment dysgenesis 1?0024525;Cataract 11 multiple types?0010228;Cataract-glaucoma syndrome?0001160;Posterior subcapsular cataract?0016889	https://raresource.nih.gov/literature/gene/PITX3	5309	ENSG00000107859	9006	https://pubmed.ncbi.nlm.nih.gov/?term=PITX3	None	None	5468	2234
PJVK	pejvakin	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 59?0022622	https://raresource.nih.gov/literature/gene/PJVK	494513	ENSG00000204311	29502	https://pubmed.ncbi.nlm.nih.gov/?term=PJVK	None	None	5051	71
PKD1	polycystin 1, transient receptor potential channel interacting	Polycystic kidney disease, adult type?0018597	https://raresource.nih.gov/literature/gene/PKD1	5310	ENSG00000008710	9008	https://pubmed.ncbi.nlm.nih.gov/?term=PKD1	None	None	25233	4113
PKD1L1	polycystin 1 like 1, transient receptor potential channel interacting	Heterotaxy, visceral, 8, autosomal?0025041;Situs inversus?0004883;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/PKD1L1	168507	ENSG00000158683	18053	https://pubmed.ncbi.nlm.nih.gov/?term=PKD1L1	None	None	64636	43
PKD2	polycystin 2, transient receptor potential cation channel	Polycystic kidney disease 2?0018599	https://raresource.nih.gov/literature/gene/PKD2	5311	ENSG00000118762	9009	https://pubmed.ncbi.nlm.nih.gov/?term=PKD2	None	None	27851	2589
PKHD1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	Polycystic kidney disease 4?0006168;Caroli disease?0006002;Autosomal recessive polycystic kidney disease?0008378	https://raresource.nih.gov/literature/gene/PKHD1	5314	ENSG00000170927	9016	https://pubmed.ncbi.nlm.nih.gov/?term=PKHD1	None	None	207087	486
PKHD1L1	PKHD1 like 1	Autosomal recessive nonsyndromic hearing loss 124?0027080	https://raresource.nih.gov/literature/gene/PKHD1L1	93035	ENSG00000205038	20313	https://pubmed.ncbi.nlm.nih.gov/?term=PKHD1L1	None	None	30765	40
PKLR	pyruvate kinase L/R	Pyruvate kinase hyperactivity?0024521;Pyruvate kinase deficiency of red cells?0007514	https://raresource.nih.gov/literature/gene/PKLR	5313	ENSG00000143627	9020	https://pubmed.ncbi.nlm.nih.gov/?term=PKLR	None	None	6506	733
PKP1	plakophilin 1	Epidermolysis bullosa simplex due to plakophilin deficiency?0009705	https://raresource.nih.gov/literature/gene/PKP1	5317	ENSG00000081277	9023	https://pubmed.ncbi.nlm.nih.gov/?term=PKP1	None	None	20289	202
PKP2	plakophilin 2	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form?0017346;Left ventricular noncompaction?0010985;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form?0017347;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form?0017345;Arrhythmogenic right ventricular dysplasia 9?0024852	https://raresource.nih.gov/literature/gene/PKP2	5318	ENSG00000057294	9024	https://pubmed.ncbi.nlm.nih.gov/?term=PKP2	None	None	28105	522
PLA2G4A	phospholipase A2 group IVA	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder?0017857;Cryptogenic multifocal ulcerous stenosing enteritis?0021945	https://raresource.nih.gov/literature/gene/PLA2G4A	5321	ENSG00000116711	9035	https://pubmed.ncbi.nlm.nih.gov/?term=PLA2G4A	None	None	61416	2942
PLA2G5	phospholipase A2 group V	Familial benign flecked retina?0018651	https://raresource.nih.gov/literature/gene/PLA2G5	5322	ENSG00000127472	9038	https://pubmed.ncbi.nlm.nih.gov/?term=PLA2G5	None	None	24525	147
PLA2G6	phospholipase A2 group VI	Neurodegeneration with brain iron accumulation 2B?0010688;Infantile neuroaxonal dystrophy?0003957;Autosomal recessive Parkinson disease 14?0012568;PLA2G6-associated neurodegeneration?0012567	https://raresource.nih.gov/literature/gene/PLA2G6	8398	ENSG00000184381	9039	https://pubmed.ncbi.nlm.nih.gov/?term=PLA2G6	None	None	27471	5721
PLAA	phospholipase A2 activating protein	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies?0017960	https://raresource.nih.gov/literature/gene/PLAA	9373	ENSG00000137055	9043	https://pubmed.ncbi.nlm.nih.gov/?term=PLAA	None	None	19253	878
PLAAT3	phospholipase A and acyltransferase 3	Lipodystrophy, familial partial, type 9?0026915	https://raresource.nih.gov/literature/gene/PLAAT3	11145	ENSG00000176485	17825	https://pubmed.ncbi.nlm.nih.gov/?term=PLAAT3	None	None	8409	114
PLAG1	PLAG1 zinc finger	Silver-russell syndrome 4?0018464;Pleomorphic adenoma of salivary gland?0017789	https://raresource.nih.gov/literature/gene/PLAG1	5324	ENSG00000181690	9045	https://pubmed.ncbi.nlm.nih.gov/?term=PLAG1	None	None	18772	14405
PLAGL1	PLAG1 like zinc finger 1	Diabetes mellitus, transient neonatal, 1?0001839	https://raresource.nih.gov/literature/gene/PLAGL1	5325	ENSG00000118495	9046	https://pubmed.ncbi.nlm.nih.gov/?term=PLAGL1	None	None	47261	390
PLAT	plasminogen activator, tissue type	Lethal hydranencephaly-diaphragmatic hernia syndrome?0021978	https://raresource.nih.gov/literature/gene/PLAT	5327	ENSG00000104368	9051	https://pubmed.ncbi.nlm.nih.gov/?term=PLAT	None	None	15140	15410
PLAU	plasminogen activator, urokinase	Alzheimer disease type 1?0009465;Quebec platelet disorder?0008345	https://raresource.nih.gov/literature/gene/PLAU	5328	ENSG00000122861	9052	https://pubmed.ncbi.nlm.nih.gov/?term=PLAU	None	None	2750	9194
PLCB1	phospholipase C beta 1	Developmental and epileptic encephalopathy, 12?0013318;Malignant migrating partial seizures of infancy?0012919	https://raresource.nih.gov/literature/gene/PLCB1	23236	ENSG00000182621	15917	https://pubmed.ncbi.nlm.nih.gov/?term=PLCB1	None	None	187074	1530
PLCB3	phospholipase C beta 3	Spondylometaphyseal dysplasia with corneal dystrophy?0018016	https://raresource.nih.gov/literature/gene/PLCB3	5331	ENSG00000149782	9056	https://pubmed.ncbi.nlm.nih.gov/?term=PLCB3	None	None	8924	122
PLCB4	phospholipase C beta 4	Auriculocondylar syndrome?0009798;Auriculocondylar syndrome 2?0015831;Auriculocondylar syndrome 2B?0026863	https://raresource.nih.gov/literature/gene/PLCB4	5332	ENSG00000101333	9059	https://pubmed.ncbi.nlm.nih.gov/?term=PLCB4	None	None	89402	1249
PLCD1	phospholipase C delta 1	Leukonychia totalis?0009759;Nonsyndromic congenital nail disorder 3?0002555	https://raresource.nih.gov/literature/gene/PLCD1	5333	ENSG00000187091	9060	https://pubmed.ncbi.nlm.nih.gov/?term=PLCD1	None	None	9320	196
PLCE1	phospholipase C epsilon 1	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Nephrotic syndrome, type 3?0015495	https://raresource.nih.gov/literature/gene/PLCE1	51196	ENSG00000138193	17175	https://pubmed.ncbi.nlm.nih.gov/?term=PLCE1	None	None	104021	397
PLCG2	phospholipase C gamma 2	Familial cold autoinflammatory syndrome 3?0017369;Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation?0017486	https://raresource.nih.gov/literature/gene/PLCG2	5336	ENSG00000197943	9066	https://pubmed.ncbi.nlm.nih.gov/?term=PLCG2	None	None	69979	512
PLCH1	phospholipase C eta 1	Holoprosencephaly 14?0025651;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/PLCH1	23007	ENSG00000114805	29185	https://pubmed.ncbi.nlm.nih.gov/?term=PLCH1	None	None	124602	16
PLD1	phospholipase D1	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/PLD1	5337	ENSG00000075651	9067	https://pubmed.ncbi.nlm.nih.gov/?term=PLD1	None	None	71176	885
PLD3	phospholipase D family member 3	Spinocerebellar ataxia 46?0022352	https://raresource.nih.gov/literature/gene/PLD3	23646	ENSG00000105223	17158	https://pubmed.ncbi.nlm.nih.gov/?term=PLD3	None	None	11342	107
PLEC	plectin	Neuromuscular disease caused by qualitative or quantitative defects of plectin?0020437;Epidermolysis bullosa simplex 5C, with pyloric atresia?0016991;Autosomal recessive limb-girdle muscular dystrophy type 2Q?0012542;Epidermolysis bullosa simplex 5B, with muscular dystrophy?0002137;Epidermolysis bullosa simplex with nail dystrophy?0025010;Epidermolysis bullosa simplex, Ogna type?0002148	https://raresource.nih.gov/literature/gene/PLEC	5339	ENSG00000178209	9069	https://pubmed.ncbi.nlm.nih.gov/?term=PLEC	None	None	33530	1157
PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	Charcot-Marie-Tooth disease recessive intermediate C?0017587;Neuronopathy, distal hereditary motor, autosomal recessive 4?0017101	https://raresource.nih.gov/literature/gene/PLEKHG5	57449	ENSG00000171680	29105	https://pubmed.ncbi.nlm.nih.gov/?term=PLEKHG5	None	None	25232	77
PLEKHM1	pleckstrin homology and RUN domain containing M1	Autosomal recessive osteopetrosis 6?0004156;Osteopetrosis, autosomal dominant 3?0025262	https://raresource.nih.gov/literature/gene/PLEKHM1	9842	ENSG00000225190	29017	https://pubmed.ncbi.nlm.nih.gov/?term=PLEKHM1	None	None	13945	1020
PLG	plasminogen	PLG-related hereditary angioedema with normal C1inh?0022217;Plasminogen deficiency, type I?0004380;Dysplasminogenemia?0026270;Angioedema, hereditary, 4?0025481;Plasminogen deficiency, type II?0026269	https://raresource.nih.gov/literature/gene/PLG	5340	ENSG00000122194	9071	https://pubmed.ncbi.nlm.nih.gov/?term=PLG	None	None	22904	17745
PLIN1	perilipin 1	PLIN1-related familial partial lipodystrophy?0012601	https://raresource.nih.gov/literature/gene/PLIN1	5346	ENSG00000166819	9076	https://pubmed.ncbi.nlm.nih.gov/?term=PLIN1	None	None	5486	722
PLK4	polo like kinase 4	Microcephaly and chorioretinopathy 2?0024997;Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/PLK4	10733	ENSG00000142731	11397	https://pubmed.ncbi.nlm.nih.gov/?term=PLK4	None	None	9542	777
PLN	phospholamban	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form?0017347;Hypertrophic cardiomyopathy 18?0024930;Dilated cardiomyopathy 1P?0015469;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/PLN	5350	ENSG00000198523	9080	https://pubmed.ncbi.nlm.nih.gov/?term=PLN	None	None	117	2872
PLOD1	procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	Ehlers-Danlos syndrome, kyphoscoliotic type 1?0022216;Ehlers-Danlos syndrome, type 4?0002082	https://raresource.nih.gov/literature/gene/PLOD1	5351	ENSG00000083444	9081	https://pubmed.ncbi.nlm.nih.gov/?term=PLOD1	None	None	19988	40223
PLOD2	procollagen-lysine,2-oxoglutarate 5-dioxygenase 2	Bruck syndrome?0001029;Bruck syndrome 2?0010023	https://raresource.nih.gov/literature/gene/PLOD2	5352	ENSG00000152952	9082	https://pubmed.ncbi.nlm.nih.gov/?term=PLOD2	None	None	35292	944
PLOD3	procollagen-lysine,2-oxoglutarate 5-dioxygenase 3	Bone fragility with contractures, arterial rupture, and deafness?0017362	https://raresource.nih.gov/literature/gene/PLOD3	8985	ENSG00000106397	9083	https://pubmed.ncbi.nlm.nih.gov/?term=PLOD3	None	None	6512	177
PLP1	proteolipid protein 1	Pelizaeus-Merzbacher disease, transitional form?0021074;Pelizaeus-Merzbacher disease?0004265;Pelizaeus-Merzbacher disease, classic form?0021073;Hereditary spastic paraplegia 2?0004923;Pelizaeus-Merzbacher disease in female carriers?0021075;Null syndrome?0017292;Pelizaeus-Merzbacher disease, connatal form?0017291	https://raresource.nih.gov/literature/gene/PLP1	5354	ENSG00000123560	9086	https://pubmed.ncbi.nlm.nih.gov/?term=PLP1	None	None	3247	2575
PLPBP	pyridoxal phosphate binding protein	Epilepsy, early-onset, vitamin B6-dependent?0025048	https://raresource.nih.gov/literature/gene/PLPBP	11212	ENSG00000147471	9457	https://pubmed.ncbi.nlm.nih.gov/?term=PLPBP	None	None	7954	45
PLS1	plastin 1	Hearing loss, autosomal dominant 76?0018154;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/PLS1	5357	ENSG00000120756	9090	https://pubmed.ncbi.nlm.nih.gov/?term=PLS1	None	None	40533	303
PLS3	plastin 3	Hernia, anterior diaphragmatic?0015295;X-linked osteoporosis with fractures?0017614	https://raresource.nih.gov/literature/gene/PLS3	5358	ENSG00000102024	9091	https://pubmed.ncbi.nlm.nih.gov/?term=PLS3	None	None	17199	257
PLXND1	plexin D1	Oromandibular-limb hypogenesis spectrum?0008549;Persistent truncus arteriosus?0016627;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/PLXND1	23129	ENSG00000004399	9107	https://pubmed.ncbi.nlm.nih.gov/?term=PLXND1	None	None	20332	165
PMEPA1	prostate transmembrane protein, androgen induced 1	Ehlers-Danlos syndrome, type 4?0002082	https://raresource.nih.gov/literature/gene/PMEPA1	56937	ENSG00000124225	14107	https://pubmed.ncbi.nlm.nih.gov/?term=PMEPA1	None	None	17895	255
PMFBP1	polyamine modulated factor 1 binding protein 1	Male infertility due to acephalic spermatozoa?0017971	https://raresource.nih.gov/literature/gene/PMFBP1	83449	ENSG00000118557	17728	https://pubmed.ncbi.nlm.nih.gov/?term=PMFBP1	None	None	21237	90
PMM2	phosphomannomutase 2	PMM2-congenital disorder of glycosylation?0009826	https://raresource.nih.gov/literature/gene/PMM2	5373	ENSG00000140650	9115	https://pubmed.ncbi.nlm.nih.gov/?term=PMM2	None	None	23007	598
PMP2	peripheral myelin protein 2	Charcot-Marie-Tooth disease, demyelinating, type 1G?0017851	https://raresource.nih.gov/literature/gene/PMP2	5375	ENSG00000147588	9117	https://pubmed.ncbi.nlm.nih.gov/?term=PMP2	None	None	3852	1758
PMP22	peripheral myelin protein 22	Roussy-Lévy syndrome?0004741;Charcot-Marie-Tooth disease, type IA?0001245;Dejerine-Sottas disease?0009204;Charcot-Marie-Tooth disease type 1E?0009190;Guillain-Barre syndrome, familial?0018211;Hereditary liability to pressure palsies?0005221	https://raresource.nih.gov/literature/gene/PMP22	5376	ENSG00000109099	9118	https://pubmed.ncbi.nlm.nih.gov/?term=PMP22	None	None	9086	1543
PMPCA	peptidase, mitochondrial processing subunit alpha	Autosomal recessive spinocerebellar ataxia 2?0001199	https://raresource.nih.gov/literature/gene/PMPCA	23203	ENSG00000165688	18667	https://pubmed.ncbi.nlm.nih.gov/?term=PMPCA	None	None	7407	239
PMPCB	peptidase, mitochondrial processing subunit beta	Multiple mitochondrial dysfunctions syndrome 6?0018004	https://raresource.nih.gov/literature/gene/PMPCB	9512	ENSG00000105819	9119	https://pubmed.ncbi.nlm.nih.gov/?term=PMPCB	None	None	5813	205
PMS2	PMS1 homolog 2, mismatch repair system component	Lynch syndrome 4?0015791;Mismatch repair cancer syndrome 4?0018364	https://raresource.nih.gov/literature/gene/PMS2	5395	ENSG00000122512	9122	https://pubmed.ncbi.nlm.nih.gov/?term=PMS2	None	None	21047	2491
PMVK	phosphomevalonate kinase	Porokeratosis 1, Mibelli type?0015108;Porokeratosis of Mibelli?0004438	https://raresource.nih.gov/literature/gene/PMVK	10654	ENSG00000163344	9141	https://pubmed.ncbi.nlm.nih.gov/?term=PMVK	None	None	5695	8
PNKD	PNKD metallo-beta-lactamase domain containing	Paroxysmal nonkinesigenic dyskinesia?0008722;Paroxysmal nonkinesigenic dyskinesia 1?0026355	https://raresource.nih.gov/literature/gene/PNKD	25953	ENSG00000127838	9153	https://pubmed.ncbi.nlm.nih.gov/?term=PNKD	None	None	30453	4
PNKP	polynucleotide kinase 3'-phosphatase	Charcot-Marie-Tooth disease type 2B2?0001249;Microcephaly, seizures, and developmental delay?0010933;Ataxia - oculomotor apraxia type 4?0013111	https://raresource.nih.gov/literature/gene/PNKP	11284	ENSG00000039650	9154	https://pubmed.ncbi.nlm.nih.gov/?term=PNKP	None	None	3947	361
PNLIP	pancreatic lipase	Pancreatic triacylglycerol lipase deficiency?0017401	https://raresource.nih.gov/literature/gene/PNLIP	5406	ENSG00000175535	9155	https://pubmed.ncbi.nlm.nih.gov/?term=PNLIP	None	None	9917	3942
PNP	purine nucleoside phosphorylase	Purine-nucleoside phosphorylase deficiency?0004606	https://raresource.nih.gov/literature/gene/PNP	4860	ENSG00000198805	7892	https://pubmed.ncbi.nlm.nih.gov/?term=PNP	None	None	3264	5317
PNPLA1	patatin like domain 1, omega-hydroxyceramide transacylase	Autosomal recessive congenital ichthyosis 10?0015897;Congenital nonbullous ichthyosiform erythroderma?0009736	https://raresource.nih.gov/literature/gene/PNPLA1	285848	ENSG00000180316	21246	https://pubmed.ncbi.nlm.nih.gov/?term=PNPLA1	None	None	27236	82
PNPLA2	patatin like domain 2, triacylglycerol lipase	Triglyceride deposit cardiomyovasculopathy?0022267;Neutral lipid storage myopathy?0010288	https://raresource.nih.gov/literature/gene/PNPLA2	57104	ENSG00000177666	30802	https://pubmed.ncbi.nlm.nih.gov/?term=PNPLA2	None	None	4381	3771
PNPLA6	patatin like domain 6, lysophospholipase	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome?0005266;Hereditary spastic paraplegia 39?0004924;Ataxia-hypogonadism-choroidal dystrophy syndrome?0000944;Laurence-Moon syndrome?0012635	https://raresource.nih.gov/literature/gene/PNPLA6	10908	ENSG00000032444	16268	https://pubmed.ncbi.nlm.nih.gov/?term=PNPLA6	None	None	10267	658
PNPLA8	patatin like domain 8, phospholipase A2	Mitochondrial myopathy-lactic acidosis-deafness syndrome?0003682	https://raresource.nih.gov/literature/gene/PNPLA8	50640	ENSG00000135241	28900	https://pubmed.ncbi.nlm.nih.gov/?term=PNPLA8	None	None	31228	51
PNPO	pyridoxamine 5'-phosphate oxidase	Pyridoxal phosphate-responsive seizures?0010730	https://raresource.nih.gov/literature/gene/PNPO	55163	ENSG00000108439	30260	https://pubmed.ncbi.nlm.nih.gov/?term=PNPO	None	None	3089	203
PNPT1	polyribonucleotide nucleotidyltransferase 1	Autosomal recessive nonsyndromic hearing loss 70?0022646;Spinocerebellar ataxia type 25?0009996;Hearing loss, autosomal recessive?0018117;Combined oxidative phosphorylation defect type 13?0017454	https://raresource.nih.gov/literature/gene/PNPT1	87178	ENSG00000138035	23166	https://pubmed.ncbi.nlm.nih.gov/?term=PNPT1	None	None	30169	564
POC1A	POC1 centriolar protein A	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome?0017419	https://raresource.nih.gov/literature/gene/POC1A	25886	ENSG00000164087	24488	https://pubmed.ncbi.nlm.nih.gov/?term=POC1A	None	None	27687	13
POC1B	POC1 centriolar protein B	Cone-rod dystrophy?0010790;Cone-rod dystrophy 20?0016036	https://raresource.nih.gov/literature/gene/POC1B	282809	ENSG00000139323	30836	https://pubmed.ncbi.nlm.nih.gov/?term=POC1B	None	None	24050	47
PODXL	podocalyxin like	Atypical juvenile parkinsonism?0017621;Young-onset Parkinson disease?0016610	https://raresource.nih.gov/literature/gene/PODXL	5420	ENSG00000128567	9171	https://pubmed.ncbi.nlm.nih.gov/?term=PODXL	None	None	23818	3621
POF1B	POF1B actin binding protein	Premature ovarian failure 2B?0024721	https://raresource.nih.gov/literature/gene/POF1B	79983	ENSG00000124429	13711	https://pubmed.ncbi.nlm.nih.gov/?term=POF1B	None	None	18571	55
POFUT1	protein O-fucosyltransferase 1	Dowling-Degos disease 2?0015944;Dowling-Degos disease?0009775	https://raresource.nih.gov/literature/gene/POFUT1	23509	ENSG00000101346	14988	https://pubmed.ncbi.nlm.nih.gov/?term=POFUT1	None	None	7617	164
POGLUT1	protein O-glucosyltransferase 1	Dowling-Degos disease 4?0016002;Autosomal recessive limb-girdle muscular dystrophy type 2R1?0017869;Dowling-Degos disease?0009775	https://raresource.nih.gov/literature/gene/POGLUT1	56983	ENSG00000163389	22954	https://pubmed.ncbi.nlm.nih.gov/?term=POGLUT1	None	None	10908	86
POGZ	pogo transposable element derived with ZNF domain	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome?0013774	https://raresource.nih.gov/literature/gene/POGZ	23126	ENSG00000143442	18801	https://pubmed.ncbi.nlm.nih.gov/?term=POGZ	None	None	26721	106
POLA1	DNA polymerase alpha 1, catalytic subunit	X-linked reticulate pigmentary disorder?0016756;X-linked intellectual disability, van Esch type?0017008	https://raresource.nih.gov/literature/gene/POLA1	5422	ENSG00000101868	9173	https://pubmed.ncbi.nlm.nih.gov/?term=POLA1	None	None	50913	775
POLD1	DNA polymerase delta 1, catalytic subunit	Polymerase proofreading-related adenomatous polyposis?0017772;Mandibular hypoplasia-deafness-progeroid syndrome?0010989;Immunodeficiency 120?0027550;Familial colorectal cancer type X?0021840	https://raresource.nih.gov/literature/gene/POLD1	5424	ENSG00000062822	9175	https://pubmed.ncbi.nlm.nih.gov/?term=POLD1	None	None	19605	4292
POLD2	DNA polymerase delta 2, accessory subunit	POLD2-related combined immunodeficiency?0027572	https://raresource.nih.gov/literature/gene/POLD2	5425	ENSG00000106628	9176	https://pubmed.ncbi.nlm.nih.gov/?term=POLD2	None	None	2836	60
POLD3	DNA polymerase delta 3, accessory subunit	POLD3-related combined immunodeficiency?0027573	https://raresource.nih.gov/literature/gene/POLD3	10714	ENSG00000077514	20932	https://pubmed.ncbi.nlm.nih.gov/?term=POLD3	None	None	2974	117
POLE	DNA polymerase epsilon, catalytic subunit	Polymerase proofreading-related adenomatous polyposis?0017772;Familial colorectal cancer type X?0021840;Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency?0025721;Facial dysmorphism-immunodeficiency-livedo-short stature syndrome?0017528	https://raresource.nih.gov/literature/gene/POLE	5426	ENSG00000177084	9177	https://pubmed.ncbi.nlm.nih.gov/?term=POLE	None	None	27701	1208
POLG	DNA polymerase gamma, catalytic subunit	Autosomal recessive progressive external ophthalmoplegia?0001191;Mitochondrial DNA depletion syndrome 4b?0024915;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1?0013174;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis?0009998;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1?0015215;Recessive mitochondrial ataxia syndrome?0019251;Spinocerebellar ataxia with epilepsy?0017229;Autosomal dominant progressive external ophthalmoplegia?0016486;Progressive sclerosing poliodystrophy?0005783;Mitochondrial neurogastrointestinal encephalomyopathy?0009920	https://raresource.nih.gov/literature/gene/POLG	5428	ENSG00000140521	9179	https://pubmed.ncbi.nlm.nih.gov/?term=POLG	None	None	9272	1102
POLG2	DNA polymerase gamma 2, accessory subunit	Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)?0025539;Mitochondrial DNA depletion syndrome 16 (hepatic type)?0025749;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4?0016500;Autosomal dominant progressive external ophthalmoplegia?0016486	https://raresource.nih.gov/literature/gene/POLG2	11232	ENSG00000256525	9180	https://pubmed.ncbi.nlm.nih.gov/?term=POLG2	None	None	6291	1721
POLH	DNA polymerase eta	Xeroderma pigmentosum variant type?0005630	https://raresource.nih.gov/literature/gene/POLH	5429	ENSG00000170734	9181	https://pubmed.ncbi.nlm.nih.gov/?term=POLH	None	None	22833	201
POLR1A	RNA polymerase I subunit A	Leukodystrophy, hypomyelinating, 27?0026912;Acrofacial dysostosis Cincinnati type?0016117	https://raresource.nih.gov/literature/gene/POLR1A	25885	ENSG00000068654	17264	https://pubmed.ncbi.nlm.nih.gov/?term=POLR1A	None	None	33544	348
POLR1B	RNA polymerase I subunit B	Treacher Collins syndrome 4?0016396;Treacher Collins syndrome?0009124	https://raresource.nih.gov/literature/gene/POLR1B	84172	ENSG00000125630	20454	https://pubmed.ncbi.nlm.nih.gov/?term=POLR1B	None	None	14802	288
POLR1C	RNA polymerase I and III subunit C	Treacher Collins syndrome 3?0009125;Treacher Collins syndrome?0009124;Hypomyelinating leukodystrophy 11?0018088	https://raresource.nih.gov/literature/gene/POLR1C	9533	ENSG00000171453	20194	https://pubmed.ncbi.nlm.nih.gov/?term=POLR1C	None	None	3257	128
POLR1D	RNA polymerase I and III subunit D	Treacher Collins syndrome 2?0015698;Treacher Collins syndrome?0009124	https://raresource.nih.gov/literature/gene/POLR1D	51082	ENSG00000186184	20422	https://pubmed.ncbi.nlm.nih.gov/?term=POLR1D	None	None	28745	141
POLR3A	RNA polymerase III subunit A	Neonatal pseudo-hydrocephalic progeroid syndrome?0000330;Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome?0017773;Odontoleukodystrophy?0009632;Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome?0016948;Tremor-ataxia-central hypomyelination syndrome?0017774	https://raresource.nih.gov/literature/gene/POLR3A	11128	ENSG00000148606	30074	https://pubmed.ncbi.nlm.nih.gov/?term=POLR3A	None	None	24745	175
POLR3B	RNA polymerase III subunit B	Charcot-Marie-Tooth disease, demyelinating, IIA 1I?0025607;Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism?0018624;Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome?0016948	https://raresource.nih.gov/literature/gene/POLR3B	55703	ENSG00000013503	30348	https://pubmed.ncbi.nlm.nih.gov/?term=POLR3B	None	None	36748	107
POLR3H	RNA polymerase III subunit H	46 XX gonadal dysgenesis?0005671	https://raresource.nih.gov/literature/gene/POLR3H	171568	ENSG00000100413	30349	https://pubmed.ncbi.nlm.nih.gov/?term=POLR3H	None	None	6773	40
POLR3K	RNA polymerase III subunit K	Leukodystrophy, hypomyelinating, 21?0025525	https://raresource.nih.gov/literature/gene/POLR3K	51728	ENSG00000161980	14121	https://pubmed.ncbi.nlm.nih.gov/?term=POLR3K	None	None	3742	76
POLRMT	RNA polymerase mitochondrial	Combined oxidative phosphorylation deficiency 55?0026672	https://raresource.nih.gov/literature/gene/POLRMT	5442	ENSG00000099821	9200	https://pubmed.ncbi.nlm.nih.gov/?term=POLRMT	None	None	10026	174
POMC	proopiomelanocortin	Obesity due to pro-opiomelanocortin deficiency?0010823;Inherited obesity?0018935	https://raresource.nih.gov/literature/gene/POMC	5443	ENSG00000115138	9201	https://pubmed.ncbi.nlm.nih.gov/?term=POMC	None	None	3790	53888
POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3?0015204;Walker-Warburg congenital muscular dystrophy?0002599;Autosomal recessive limb-girdle muscular dystrophy type 2O?0012540;Myopathy caused by variation in POMGNT1?0026341;Retinitis pigmentosa 76?0016196;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3?0018455;Muscle eye brain disease?0000156	https://raresource.nih.gov/literature/gene/POMGNT1	55624	ENSG00000085998	19139	https://pubmed.ncbi.nlm.nih.gov/?term=POMGNT1	None	None	13776	180
POMGNT2	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	Myopathy caused by variation in POMGNT2?0026342;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8?0015846;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8?0016294;Walker-Warburg congenital muscular dystrophy?0002599	https://raresource.nih.gov/literature/gene/POMGNT2	84892	ENSG00000144647	25902	https://pubmed.ncbi.nlm.nih.gov/?term=POMGNT2	None	None	10381	30
POMK	protein O-mannose kinase	Walker-Warburg congenital muscular dystrophy?0002599;Limb-girdle muscular dystrophy due to POMK deficiency?0017769;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12?0015927	https://raresource.nih.gov/literature/gene/POMK	84197	ENSG00000185900	26267	https://pubmed.ncbi.nlm.nih.gov/?term=POMK	None	None	12961	27
POMP	proteasome maturation protein	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome?0017306;Proteasome-associated autoinflammatory syndrome 2?0018447	https://raresource.nih.gov/literature/gene/POMP	51371	ENSG00000132963	20330	https://pubmed.ncbi.nlm.nih.gov/?term=POMP	None	None	5604	191
POMT1	protein O-mannosyltransferase 1	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1?0024904;Congenital muscular dystrophy without intellectual disability?0027117;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1?0024665;Walker-Warburg congenital muscular dystrophy?0002599;Myopathy caused by variation in POMT1?0026343;Autosomal recessive limb-girdle muscular dystrophy type 2K?0012535;Muscle eye brain disease?0000156;Congenital muscular dystrophy with intellectual disability?0017606	https://raresource.nih.gov/literature/gene/POMT1	10585	ENSG00000130714	9202	https://pubmed.ncbi.nlm.nih.gov/?term=POMT1	None	None	10048	5701
POMT2	protein O-mannosyltransferase 2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1?0024665;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2?0015624;Walker-Warburg congenital muscular dystrophy?0002599;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2?0024905;Myopathy caused by variation in POMT2?0026344;Autosomal recessive limb-girdle muscular dystrophy type 2N?0012539;Muscle eye brain disease?0000156;Congenital muscular dystrophy with intellectual disability?0017606	https://raresource.nih.gov/literature/gene/POMT2	29954	ENSG00000009830	19743	https://pubmed.ncbi.nlm.nih.gov/?term=POMT2	None	None	11598	125
PON1	paraoxonase 1	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/PON1	5444	ENSG00000005421	9204	https://pubmed.ncbi.nlm.nih.gov/?term=PON1	None	None	10308	4799
PON2	paraoxonase 2	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/PON2	5445	ENSG00000105854	9205	https://pubmed.ncbi.nlm.nih.gov/?term=PON2	None	None	11181	535
PON3	paraoxonase 3	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/PON3	5446	ENSG00000105852	9206	https://pubmed.ncbi.nlm.nih.gov/?term=PON3	None	None	14015	283
POP1	POP1 homolog, ribonuclease P/MRP subunit	Anauxetic dysplasia?0009657;Anauxetic dysplasia 2?0025949	https://raresource.nih.gov/literature/gene/POP1	10940	ENSG00000104356	30129	https://pubmed.ncbi.nlm.nih.gov/?term=POP1	None	None	15998	105
POPDC1	popeye domain cAMP effector 1	Autosomal recessive limb-girdle muscular dystrophy type 2X?0017847	https://raresource.nih.gov/literature/gene/POPDC1	11149	ENSG00000112276	1152	https://pubmed.ncbi.nlm.nih.gov/?term=POPDC1	None	None	None	192
POPDC3	popeye domain cAMP effector 3	Muscular dystrophy, limb-girdle, autosomal recessive 26?0025507	https://raresource.nih.gov/literature/gene/POPDC3	64208	ENSG00000132429	17649	https://pubmed.ncbi.nlm.nih.gov/?term=POPDC3	None	None	8873	65
POR	cytochrome p450 oxidoreductase	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis?0016665;Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency?0012664	https://raresource.nih.gov/literature/gene/POR	5447	ENSG00000127948	9208	https://pubmed.ncbi.nlm.nih.gov/?term=POR	None	None	30279	2544
PORCN	porcupine O-acyltransferase	Focal dermal hypoplasia?0006457;Microphthalmia, isolated, with coloboma?0003644	https://raresource.nih.gov/literature/gene/PORCN	64840	ENSG00000102312	17652	https://pubmed.ncbi.nlm.nih.gov/?term=PORCN	None	None	2402	289
POT1	protection of telomeres 1	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8?0026802;Tumor predisposition syndrome 3?0018582;Cerebroretinal microangiopathy with calcifications and cysts 3?0026803;B-cell chronic lymphocytic leukemia?0006104	https://raresource.nih.gov/literature/gene/POT1	25913	ENSG00000128513	17284	https://pubmed.ncbi.nlm.nih.gov/?term=POT1	None	None	37156	753
POU1F1	POU class 1 homeobox 1	Hypothyroidism due to deficient transcription factors involved in pituitary development or function?0020562;Pituitary hormone deficiency, combined, 1?0010601;Combined pituitary hormone deficiencies, genetic form?0010602	https://raresource.nih.gov/literature/gene/POU1F1	5449	ENSG00000064835	9210	https://pubmed.ncbi.nlm.nih.gov/?term=POU1F1	None	None	8118	1602
POU3F3	POU class 3 homeobox 3	Snijders blok-fisher syndrome?0025755	https://raresource.nih.gov/literature/gene/POU3F3	5455	ENSG00000198914	9216	https://pubmed.ncbi.nlm.nih.gov/?term=POU3F3	None	None	4589	129
POU3F4	POU class 3 homeobox 4	Choroideremia-deafness-obesity syndrome?0000369;X-linked mixed hearing loss with perilymphatic gusher?0004504	https://raresource.nih.gov/literature/gene/POU3F4	5456	ENSG00000196767	9217	https://pubmed.ncbi.nlm.nih.gov/?term=POU3F4	None	None	1981	229
POU4F3	POU class 4 homeobox 3	Autosomal dominant nonsyndromic hearing loss 15?0018109;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/POU4F3	5459	ENSG00000091010	9220	https://pubmed.ncbi.nlm.nih.gov/?term=POU4F3	None	None	1985	247
POU6F2	POU class 6 homeobox 2	Wilms tumor 5?0015336	https://raresource.nih.gov/literature/gene/POU6F2	11281	ENSG00000106536	21694	https://pubmed.ncbi.nlm.nih.gov/?term=POU6F2	None	None	173115	58
PPA2	inorganic pyrophosphatase 2	Sudden cardiac failure, infantile?0027056	https://raresource.nih.gov/literature/gene/PPA2	27068	ENSG00000138777	28883	https://pubmed.ncbi.nlm.nih.gov/?term=PPA2	None	None	39296	94
PPARG	peroxisome proliferator activated receptor gamma	PPARG-related familial partial lipodystrophy?0012600;Berardinelli-Seip congenital lipodystrophy?0013388;Inherited obesity?0018935	https://raresource.nih.gov/literature/gene/PPARG	5468	ENSG00000132170	9236	https://pubmed.ncbi.nlm.nih.gov/?term=PPARG	None	None	60716	14808
PPCS	phosphopantothenoylcysteine synthetase	Cardiomyopathy, dilated, 2c?0016305;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/PPCS	79717	ENSG00000127125	25686	https://pubmed.ncbi.nlm.nih.gov/?term=PPCS	None	None	1987	40
PPIB	peptidylprolyl isomerase B	Osteogenesis imperfecta type 9?0010619	https://raresource.nih.gov/literature/gene/PPIB	5479	ENSG00000166794	9255	https://pubmed.ncbi.nlm.nih.gov/?term=PPIB	None	None	2663	404
PPIL1	peptidylprolyl isomerase like 1	Pontocerebellar hypoplasia, type 14?0018032	https://raresource.nih.gov/literature/gene/PPIL1	51645	ENSG00000137168	9260	https://pubmed.ncbi.nlm.nih.gov/?term=PPIL1	None	None	6983	1294
PPIP5K2	diphosphoinositol pentakisphosphate kinase 2	Hearing loss, autosomal recessive?0018117;Hearing loss, autosomal recessive 100?0022660	https://raresource.nih.gov/literature/gene/PPIP5K2	23262	ENSG00000145725	29035	https://pubmed.ncbi.nlm.nih.gov/?term=PPIP5K2	None	None	33222	77
PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold?0025892;Familial cancer of breast?0017142	https://raresource.nih.gov/literature/gene/PPM1D	8493	ENSG00000170836	9277	https://pubmed.ncbi.nlm.nih.gov/?term=PPM1D	None	None	25381	688
PPM1K	protein phosphatase, Mg2+/Mn2+ dependent 1K	Maple syrup urine disease, mild variant?0018388;Intermediate maple syrup urine disease?0017264	https://raresource.nih.gov/literature/gene/PPM1K	152926	ENSG00000163644	25415	https://pubmed.ncbi.nlm.nih.gov/?term=PPM1K	None	None	11559	111
PPOX	protoporphyrinogen oxidase	Variegate porphyria?0007848;Variegate porphyria, childhood-onset?0026867	https://raresource.nih.gov/literature/gene/PPOX	5498	ENSG00000143224	9280	https://pubmed.ncbi.nlm.nih.gov/?term=PPOX	None	None	2988	4087
PPP1CB	protein phosphatase 1 catalytic subunit beta	Noonan syndrome-like disorder with loose anagen hair 2?0025953;Noonan syndrome-like disorder with loose anagen hair?0010719	https://raresource.nih.gov/literature/gene/PPP1CB	5500	ENSG00000213639	9282	https://pubmed.ncbi.nlm.nih.gov/?term=PPP1CB	None	None	22135	1920
PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/PPP1R13L	10848	ENSG00000104881	18838	https://pubmed.ncbi.nlm.nih.gov/?term=PPP1R13L	None	None	9727	291
PPP1R15B	protein phosphatase 1 regulatory subunit 15B	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome?0017620;Microcephaly, short stature, and impaired glucose metabolism 2?0018460	https://raresource.nih.gov/literature/gene/PPP1R15B	84919	ENSG00000158615	14951	https://pubmed.ncbi.nlm.nih.gov/?term=PPP1R15B	None	None	4428	69
PPP1R17	protein phosphatase 1 regulatory subunit 17	Hypercholesterolemia, familial, 1?0024574	https://raresource.nih.gov/literature/gene/PPP1R17	10842	ENSG00000106341	16973	https://pubmed.ncbi.nlm.nih.gov/?term=PPP1R17	None	None	5237	35
PPP2R1A	protein phosphatase 2 scaffold subunit Aalpha	Houge-Janssens syndrome 2?0017803	https://raresource.nih.gov/literature/gene/PPP2R1A	5518	ENSG00000105568	9302	https://pubmed.ncbi.nlm.nih.gov/?term=PPP2R1A	None	None	13871	263
PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	Spinocerebellar ataxia type 12?0010476	https://raresource.nih.gov/literature/gene/PPP2R2B	5521	ENSG00000156475	9305	https://pubmed.ncbi.nlm.nih.gov/?term=PPP2R2B	None	None	190724	186
PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	Hogue-Janssens syndrome 1?0017802	https://raresource.nih.gov/literature/gene/PPP2R5D	5528	ENSG00000112640	9312	https://pubmed.ncbi.nlm.nih.gov/?term=PPP2R5D	None	None	13146	93
PPP3CA	protein phosphatase 3 catalytic subunit alpha	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development?0018001;Developmental and epileptic encephalopathy 91?0025189;Autosomal dominant non-syndromic intellectual disability?0012107;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/PPP3CA	5530	ENSG00000138814	9314	https://pubmed.ncbi.nlm.nih.gov/?term=PPP3CA	None	None	117284	866
PPT1	palmitoyl-protein thioesterase 1	Neuronal ceroid lipofuscinosis 1?0001219	https://raresource.nih.gov/literature/gene/PPT1	5538	ENSG00000131238	9325	https://pubmed.ncbi.nlm.nih.gov/?term=PPT1	None	None	10585	13
PQBP1	polyglutamine binding protein 1	Hamel cerebro-palato-cardiac syndrome?0019240;Renpenning syndrome?0009509;X-linked intellectual disability, Sutherland-Haan type?0019242;X-linked intellectual disability, Golabi-Ito-hall type?0019241;X-linked intellectual disability, Porteous type?0019239	https://raresource.nih.gov/literature/gene/PQBP1	10084	ENSG00000102103	9330	https://pubmed.ncbi.nlm.nih.gov/?term=PQBP1	None	None	2647	156
PRCC	proline rich mitotic checkpoint control factor	Hereditary papillary renal cell carcinoma?0013157	https://raresource.nih.gov/literature/gene/PRCC	5546	ENSG00000143294	9343	https://pubmed.ncbi.nlm.nih.gov/?term=PRCC	None	None	16119	104
PRCD	photoreceptor disc component	Retinitis pigmentosa 36?0010403	https://raresource.nih.gov/literature/gene/PRCD	768206	ENSG00000214140	32528	https://pubmed.ncbi.nlm.nih.gov/?term=PRCD	None	None	137	46
PRDM12	PR/SET domain 12	Congenital insensitivity to pain-hypohidrosis syndrome?0017866	https://raresource.nih.gov/literature/gene/PRDM12	59335	ENSG00000130711	13997	https://pubmed.ncbi.nlm.nih.gov/?term=PRDM12	None	None	9613	66
PRDM13	PR/SET domain 13	Pontocerebellar hypoplasia, IIA 17?0025653	https://raresource.nih.gov/literature/gene/PRDM13	59336	ENSG00000112238	13998	https://pubmed.ncbi.nlm.nih.gov/?term=PRDM13	None	None	4975	56
PRDM16	PR/SET domain 16	Left ventricular noncompaction 8?0015952;Left ventricular noncompaction?0010985;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/PRDM16	63976	ENSG00000142611	14000	https://pubmed.ncbi.nlm.nih.gov/?term=PRDM16	None	None	165392	1018
PRDM5	PR/SET domain 5	Brittle cornea syndrome 2?0015764;Brittle cornea syndrome?0001019	https://raresource.nih.gov/literature/gene/PRDM5	11107	ENSG00000138738	9349	https://pubmed.ncbi.nlm.nih.gov/?term=PRDM5	None	None	88857	93
PRDM6	PR/SET domain 6	Patent ductus arteriosus 3?0018490	https://raresource.nih.gov/literature/gene/PRDM6	93166	ENSG00000061455	9350	https://pubmed.ncbi.nlm.nih.gov/?term=PRDM6	None	None	42733	56
PRDM8	PR/SET domain 8	Early-onset Lafora body disease?0017482	https://raresource.nih.gov/literature/gene/PRDM8	56978	ENSG00000152784	13993	https://pubmed.ncbi.nlm.nih.gov/?term=PRDM8	None	None	11130	43
PRDX1	peroxiredoxin 1	Cobalamin C disease?0012128	https://raresource.nih.gov/literature/gene/PRDX1	5052	ENSG00000117450	9352	https://pubmed.ncbi.nlm.nih.gov/?term=PRDX1	None	None	5577	2098
PRDX3	peroxiredoxin 3	Spinocerebellar ataxia, autosomal recessive 32?0026679;Corneal dystrophy, punctiform and polychromatic pre-descemet?0026681	https://raresource.nih.gov/literature/gene/PRDX3	10935	ENSG00000165672	9354	https://pubmed.ncbi.nlm.nih.gov/?term=PRDX3	None	None	2631	584
PREPL	prolyl endopeptidase like	Myasthenic syndrome, congenital, 22?0025886	https://raresource.nih.gov/literature/gene/PREPL	9581	ENSG00000138078	30228	https://pubmed.ncbi.nlm.nih.gov/?term=PREPL	None	None	18349	58
PRF1	perforin 1	Aplastic anemia?0020234;Familial hemophagocytic lymphohistiocytosis?0006589;Lymphoma, non-Hodgkin, familial?0024804;Familial hemophagocytic lymphohistiocytosis 2?0009922;Fatal post-viral neurodegenerative disorder?0021620	https://raresource.nih.gov/literature/gene/PRF1	5551	ENSG00000180644	9360	https://pubmed.ncbi.nlm.nih.gov/?term=PRF1	None	None	3228	3913
PRG4	proteoglycan 4	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome?0000306	https://raresource.nih.gov/literature/gene/PRG4	10216	ENSG00000116690	9364	https://pubmed.ncbi.nlm.nih.gov/?term=PRG4	None	None	8883	2
PRICKLE1	prickle planar cell polarity protein 1	Epilepsy, progressive myoclonic, 1B?0015556	https://raresource.nih.gov/literature/gene/PRICKLE1	144165	ENSG00000139174	17019	https://pubmed.ncbi.nlm.nih.gov/?term=PRICKLE1	None	None	33138	282
PRICKLE2	prickle planar cell polarity protein 2	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/PRICKLE2	166336	ENSG00000163637	20340	https://pubmed.ncbi.nlm.nih.gov/?term=PRICKLE2	None	None	136685	87
PRKACA	protein kinase cAMP-activated catalytic subunit alpha	Pigmented nodular adrenocortical disease, primary, 4?0016016	https://raresource.nih.gov/literature/gene/PRKACA	5566	ENSG00000072062	9380	https://pubmed.ncbi.nlm.nih.gov/?term=PRKACA	None	None	10902	516
PRKACG	protein kinase cAMP-activated catalytic subunit gamma	Platelet-type bleeding disorder 19?0017738	https://raresource.nih.gov/literature/gene/PRKACG	5568	ENSG00000165059	9382	https://pubmed.ncbi.nlm.nih.gov/?term=PRKACG	None	None	2023	2152
PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	PRKAG2-related cardiomyopathy?0026575;Hypertrophic cardiomyopathy 6?0024763;Lethal congenital glycogen storage disease of heart?0010728	https://raresource.nih.gov/literature/gene/PRKAG2	51422	ENSG00000106617	9386	https://pubmed.ncbi.nlm.nih.gov/?term=PRKAG2	None	None	120833	269
PRKAR1A	protein kinase cAMP-dependent type I regulatory subunit alpha	Pigmented nodular adrenocortical disease, primary, 1?0018620;Adrenal cortex carcinoma?0000558;Familial atrial myxoma?0000139;Carney complex, type 1?0015090;Isolated primary pigmented nodular adrenocortical disease?0026991;Carney complex?0001119;Acrodysostosis?0005724;Acrodysostosis 1 with or without hormone resistance?0015030	https://raresource.nih.gov/literature/gene/PRKAR1A	5573	ENSG00000108946	9388	https://pubmed.ncbi.nlm.nih.gov/?term=PRKAR1A	None	None	8496	14651
PRKAR1B	protein kinase cAMP-dependent type I regulatory subunit beta	PRKAR1B-related neurodegenerative dementia with intermediate filaments?0021738;Marbach-Schaaf neurodevelopmental syndrome?0027395	https://raresource.nih.gov/literature/gene/PRKAR1B	5575	ENSG00000188191	9390	https://pubmed.ncbi.nlm.nih.gov/?term=PRKAR1B	None	None	81615	4804
PRKCD	protein kinase C delta	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD?0015987	https://raresource.nih.gov/literature/gene/PRKCD	5580	ENSG00000163932	9399	https://pubmed.ncbi.nlm.nih.gov/?term=PRKCD	None	None	13384	1069
PRKCG	protein kinase C gamma	Spinocerebellar ataxia type 14?0009867	https://raresource.nih.gov/literature/gene/PRKCG	5582	ENSG00000126583	9402	https://pubmed.ncbi.nlm.nih.gov/?term=PRKCG	None	None	9793	795
PRKCSH	PRKCSH beta subunit of glucosidase II	Autosomal dominant polycystic liver disease?0009457;Polycystic liver disease 1?0024613	https://raresource.nih.gov/literature/gene/PRKCSH	5589	ENSG00000130175	9411	https://pubmed.ncbi.nlm.nih.gov/?term=PRKCSH	None	None	5403	173
PRKD1	protein kinase D1	Malignant epithelial tumor of salivary glands?0021043;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/PRKD1	5587	ENSG00000184304	9407	https://pubmed.ncbi.nlm.nih.gov/?term=PRKD1	None	None	84978	331
PRKDC	protein kinase, DNA-activated, catalytic subunit	Severe combined immunodeficiency due to DNA-PKcs deficiency?0017441	https://raresource.nih.gov/literature/gene/PRKDC	5591	ENSG00000253729	9413	https://pubmed.ncbi.nlm.nih.gov/?term=PRKDC	None	None	82495	2491
PRKG1	protein kinase cGMP-dependent 1	Familial thoracic aortic aneurysm and aortic dissection?0002249;Aortic aneurysm, familial thoracic 8?0015966	https://raresource.nih.gov/literature/gene/PRKG1	5592	ENSG00000185532	9414	https://pubmed.ncbi.nlm.nih.gov/?term=PRKG1	None	None	477384	53
PRKG2	protein kinase cGMP-dependent 2	Spondylometaphyseal dysplasia, pagnamenta type?0025579;Acromesomelic dysplasia 4?0025602	https://raresource.nih.gov/literature/gene/PRKG2	5593	ENSG00000138669	9416	https://pubmed.ncbi.nlm.nih.gov/?term=PRKG2	None	None	44584	210
PRKN	parkin RBR E3 ubiquitin protein ligase	Autosomal recessive juvenile Parkinson disease 2?0009642;Young-onset Parkinson disease?0016610	https://raresource.nih.gov/literature/gene/PRKN	5071	ENSG00000185345	8607	https://pubmed.ncbi.nlm.nih.gov/?term=PRKN	None	None	546420	1450
PRKRA	protein activator of interferon induced protein kinase EIF2AK2	Dystonia 16?0010539	https://raresource.nih.gov/literature/gene/PRKRA	8575	ENSG00000180228	9438	https://pubmed.ncbi.nlm.nih.gov/?term=PRKRA	None	None	8746	430
PRLR	prolactin receptor	Familial hyperprolactinemia?0017634;Multiple fibroadenoma of the breast?0024980	https://raresource.nih.gov/literature/gene/PRLR	5618	ENSG00000113494	9446	https://pubmed.ncbi.nlm.nih.gov/?term=PRLR	None	None	65272	456
PRMT7	protein arginine methyltransferase 7	Short stature-brachydactyly-obesity-global developmental delay syndrome?0017817	https://raresource.nih.gov/literature/gene/PRMT7	54496	ENSG00000132600	25557	https://pubmed.ncbi.nlm.nih.gov/?term=PRMT7	None	None	12957	157
PRNP	prion protein (Kanno blood group)	Gerstmann-Straussler-Scheinker syndrome?0007690;Huntington disease-like 1?0016985;Inherited Creutzfeldt-Jakob disease?0017307;Spongiform encephalopathy with neuropsychiatric features?0024819;Fatal familial insomnia?0006429;PrP systemic amyloidosis?0021632;Familial Alzheimer-like prion disease?0021084	https://raresource.nih.gov/literature/gene/PRNP	5621	ENSG00000171867	9449	https://pubmed.ncbi.nlm.nih.gov/?term=PRNP	None	None	4247	10628
PROC	protein C, inactivator of coagulation factors Va and VIIIa	Hereditary thrombophilia due to congenital protein C deficiency?0016544;Thrombophilia due to protein C deficiency, autosomal recessive?0013041;Thrombophilia due to protein C deficiency, autosomal dominant?0018574	https://raresource.nih.gov/literature/gene/PROC	5624	ENSG00000115718	9451	https://pubmed.ncbi.nlm.nih.gov/?term=PROC	None	None	5502	146
PRODH	proline dehydrogenase 1	Proline dehydrogenase deficiency?0024670	https://raresource.nih.gov/literature/gene/PRODH	5625	ENSG00000100033	9453	https://pubmed.ncbi.nlm.nih.gov/?term=PRODH	None	None	2709	1285
PROK2	prokineticin 2	Hypogonadism with anosmia?0010771;Hypogonadotropic hypogonadism 4 with or without anosmia?0010772;Hypogonadotropic hypogonadism?0016533	https://raresource.nih.gov/literature/gene/PROK2	60675	ENSG00000163421	18455	https://pubmed.ncbi.nlm.nih.gov/?term=PROK2	None	None	6480	570
PROKR2	prokineticin receptor 2	Hypogonadism with anosmia?0010771;Hypogonadotropic hypogonadism 3 with or without anosmia?0003073;Hypogonadotropic hypogonadism?0016533	https://raresource.nih.gov/literature/gene/PROKR2	128674	ENSG00000101292	15836	https://pubmed.ncbi.nlm.nih.gov/?term=PROKR2	None	None	4398	385
PROM1	prominin 1	Retinitis pigmentosa 41?0010379;Stargardt disease?0000181;Cone-rod dystrophy 12?0015577;Cone-rod dystrophy?0010790;Retinal macular dystrophy type 2?0017467;PROM1-related retinopathy?0027258;Stargardt disease 4?0015359	https://raresource.nih.gov/literature/gene/PROM1	8842	ENSG00000007062	9454	https://pubmed.ncbi.nlm.nih.gov/?term=PROM1	None	None	46343	7450
PROP1	PROP paired-like homeobox 1	Hypothyroidism due to deficient transcription factors involved in pituitary development or function?0020562;Panhypopituitarism?0015020;Pituitary hormone deficiency, combined, 2?0015222;Combined pituitary hormone deficiencies, genetic form?0010602	https://raresource.nih.gov/literature/gene/PROP1	5626	ENSG00000175325	9455	https://pubmed.ncbi.nlm.nih.gov/?term=PROP1	None	None	3220	400
PRORP	protein only RNase P catalytic subunit	Combined oxidative phosphorylation deficiency 54?0025600	https://raresource.nih.gov/literature/gene/PRORP	9692	ENSG00000100890	19958	https://pubmed.ncbi.nlm.nih.gov/?term=PRORP	None	None	39265	70
PROS1	protein S	Thrombophilia due to protein S deficiency, autosomal dominant?0018568;Thrombophilia due to protein S deficiency, autosomal recessive?0018569;Hereditary thrombophilia due to congenital protein S deficiency?0016543	https://raresource.nih.gov/literature/gene/PROS1	5627	ENSG00000184500	9456	https://pubmed.ncbi.nlm.nih.gov/?term=PROS1	None	None	42767	44
PRPF3	pre-mRNA processing factor 3	Retinitis pigmentosa 18?0010392	https://raresource.nih.gov/literature/gene/PRPF3	9129	ENSG00000117360	17348	https://pubmed.ncbi.nlm.nih.gov/?term=PRPF3	None	None	16320	109
PRPF31	pre-mRNA processing factor 31	PRPF31-related retinopathy?0026545;Retinitis pigmentosa 11?0010383	https://raresource.nih.gov/literature/gene/PRPF31	26121	ENSG00000105618	15446	https://pubmed.ncbi.nlm.nih.gov/?term=PRPF31	None	None	5992	280
PRPF4	pre-mRNA splicing tri-snRNP complex factor PRPF4	Retinitis pigmentosa 70?0016032	https://raresource.nih.gov/literature/gene/PRPF4	9128	ENSG00000136875	17349	https://pubmed.ncbi.nlm.nih.gov/?term=PRPF4	None	None	7588	93
PRPF6	pre-mRNA processing factor 6	Retinitis pigmentosa 60?0015738	https://raresource.nih.gov/literature/gene/PRPF6	24148	ENSG00000101161	15860	https://pubmed.ncbi.nlm.nih.gov/?term=PRPF6	None	None	16354	761
PRPF8	pre-mRNA processing factor 8	PRPF8-related retinopathy?0026383;Retinitis pigmentosa 13?0010388	https://raresource.nih.gov/literature/gene/PRPF8	10594	ENSG00000174231	17340	https://pubmed.ncbi.nlm.nih.gov/?term=PRPF8	None	None	12333	471
PRPH	peripherin	Amyotrophic lateral sclerosis type 1?0024523	https://raresource.nih.gov/literature/gene/PRPH	5630	ENSG00000135406	9461	https://pubmed.ncbi.nlm.nih.gov/?term=PRPH	None	None	3720	91
PRPH2	peripherin 2	Choroidal dystrophy, central areolar 2?0015615;Vitelliform macular dystrophy 3?0025431;Patterned macular dystrophy 1?0018237;Retinitis punctata albescens?0016655;Butterfly-shaped pigment dystrophy?0016890;PRPH2-related retinopathy?0027257;Cone-rod dystrophy?0010790;Multifocal pattern dystrophy simulating fundus flavimaculatus?0019612;Pigmentary retinal dystrophy?0013809;Retinitis pigmentosa 7?0010386;Central areolar choroidal dystrophy?0010049;Adult-onset foveomacular vitelliform dystrophy?0010909	https://raresource.nih.gov/literature/gene/PRPH2	5961	ENSG00000112619	9942	https://pubmed.ncbi.nlm.nih.gov/?term=PRPH2	None	None	13628	1115
PRPS1	phosphoribosyl pyrophosphate synthetase 1	Hearing loss, X-linked 1?0018098;Phosphoribosylpyrophosphate synthetase superactivity?0004337;Severe phosphoribosylpyrophosphate synthetase superactivity?0017682;Arts syndrome?0008756;X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome?0021752;X-linked nonsyndromic hearing loss?0016790;Charcot-Marie-Tooth disease X-linked recessive 5?0000114;PRPS1 deficiency disorder?0026031;Mild phosphoribosylpyrophosphate synthetase superactivity?0017681	https://raresource.nih.gov/literature/gene/PRPS1	5631	ENSG00000147224	9462	https://pubmed.ncbi.nlm.nih.gov/?term=PRPS1	None	None	4399	298
PRR12	proline rich 12	Neuroocular syndrome 1?0027154	https://raresource.nih.gov/literature/gene/PRR12	57479	ENSG00000126464	29217	https://pubmed.ncbi.nlm.nih.gov/?term=PRR12	None	None	15547	122
PRRT2	proline rich transmembrane protein 2	Generalized epilepsy with febrile seizures plus?0018641;Familial or sporadic hemiplegic migraine?0010768;Seizures, benign familial infantile, 2?0016504;Benign familial infantile epilepsy?0000857;Episodic kinesigenic dyskinesia?0008721;Episodic kinesigenic dyskinesia 1?0026152;Paroxysmal nonkinesigenic dyskinesia?0008722;Infantile convulsions and choreoathetosis?0008553	https://raresource.nih.gov/literature/gene/PRRT2	112476	ENSG00000167371	30500	https://pubmed.ncbi.nlm.nih.gov/?term=PRRT2	None	None	2154	28667
PRRX1	paired related homeobox 1	Agnathia-otocephaly complex?0009126	https://raresource.nih.gov/literature/gene/PRRX1	5396	ENSG00000116132	9142	https://pubmed.ncbi.nlm.nih.gov/?term=PRRX1	None	None	31455	930
PRSS1	serine protease 1	Hereditary pancreatitis?0006632	https://raresource.nih.gov/literature/gene/PRSS1	5644	ENSG00000204983	9475	https://pubmed.ncbi.nlm.nih.gov/?term=PRSS1	None	None	5211	1175
PRSS12	serine protease 12	Intellectual disability, autosomal recessive 1?0022537;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/PRSS12	8492	ENSG00000164099	9477	https://pubmed.ncbi.nlm.nih.gov/?term=PRSS12	None	None	27318	84
PRSS2	serine protease 2	Hereditary pancreatitis?0006632	https://raresource.nih.gov/literature/gene/PRSS2	5645	ENSG00000275896	9483	https://pubmed.ncbi.nlm.nih.gov/?term=PRSS2	None	None	11747	291
PRSS56	serine protease 56	Nanophthalmia?0016637;Isolated microphthalmia 6?0018628	https://raresource.nih.gov/literature/gene/PRSS56	646960	ENSG00000237412	39433	https://pubmed.ncbi.nlm.nih.gov/?term=PRSS56	None	None	3176	47
PRUNE1	prune exopolyphosphatase 1	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies?0017985	https://raresource.nih.gov/literature/gene/PRUNE1	58497	ENSG00000143363	13420	https://pubmed.ncbi.nlm.nih.gov/?term=PRUNE1	None	None	11558	85
PRX	periaxin	Dejerine-Sottas disease?0009204;Charcot-Marie-Tooth disease type 4F?0012441	https://raresource.nih.gov/literature/gene/PRX	57716	ENSG00000105227	13797	https://pubmed.ncbi.nlm.nih.gov/?term=PRX	None	None	8489	1575
PSAP	prosaposin	Metachromatic leukodystrophy, adult type?0021330;Sphingolipid activator protein 1 deficiency?0010674;Infantile Krabbe disease?0020343;Gaucher disease due to saposin C deficiency?0012503;Krabbe disease due to saposin A deficiency?0010289;PSAP-related sphingolipidosis?0026261;Combined PSAP deficiency?0012505;Metachromatic leukodystrophy, late infantile form?0021328	https://raresource.nih.gov/literature/gene/PSAP	5660	ENSG00000197746	9498	https://pubmed.ncbi.nlm.nih.gov/?term=PSAP	None	None	15039	1145
PSAT1	phosphoserine aminotransferase 1	PSAT deficiency?0013273;Neu-Laxova syndrome 2?0022335	https://raresource.nih.gov/literature/gene/PSAT1	29968	ENSG00000135069	19129	https://pubmed.ncbi.nlm.nih.gov/?term=PSAT1	None	None	14854	14257
PSEN1	presenilin 1	Pick disease?0024611;Alzheimer disease 3?0016513;Familial isolated dilated cardiomyopathy?0027293;Primary progressive non fluent aphasia?0010793;Frontotemporal dementia?0008436;Behavioral variant of frontotemporal dementia?0007392;Early-onset autosomal dominant Alzheimer disease?0012798;Semantic dementia?0010792;Dilated cardiomyopathy 1U?0015689	https://raresource.nih.gov/literature/gene/PSEN1	5663	ENSG00000080815	9508	https://pubmed.ncbi.nlm.nih.gov/?term=PSEN1	None	None	24925	28
PSEN2	presenilin 2	Alzheimer disease 4?0016511;Dilated cardiomyopathy 1V?0015690;Early-onset autosomal dominant Alzheimer disease?0012798;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/PSEN2	5664	ENSG00000143801	9509	https://pubmed.ncbi.nlm.nih.gov/?term=PSEN2	None	None	10521	2694
PSENEN	presenilin enhancer, gamma-secretase subunit	Dowling-Degos disease?0009775	https://raresource.nih.gov/literature/gene/PSENEN	55851	ENSG00000205155	30100	https://pubmed.ncbi.nlm.nih.gov/?term=PSENEN	None	None	723	426
PSKH1	protein serine kinase H1	Cholestasis, progressive familial intrahepatic, 13?0027320	https://raresource.nih.gov/literature/gene/PSKH1	5681	ENSG00000159792	9529	https://pubmed.ncbi.nlm.nih.gov/?term=PSKH1	None	None	9714	18
PSMB10	proteasome 20S subunit beta 10	Proteasome-associated autoinflammatory syndrome 5?0018448	https://raresource.nih.gov/literature/gene/PSMB10	5699	ENSG00000205220	9538	https://pubmed.ncbi.nlm.nih.gov/?term=PSMB10	None	None	2074	165
PSMB4	proteasome 20S subunit beta 4	Proteasome-associated autoinflammatory syndrome 3?0018446	https://raresource.nih.gov/literature/gene/PSMB4	5692	ENSG00000159377	9541	https://pubmed.ncbi.nlm.nih.gov/?term=PSMB4	None	None	1986	362
PSMB8	proteasome 20S subunit beta 8	Proteosome-associated autoinflammatory syndrome?0013824;Proteasome-associated autoinflammatory syndrome 1?0003916	https://raresource.nih.gov/literature/gene/PSMB8	5696	ENSG00000204264	9545	https://pubmed.ncbi.nlm.nih.gov/?term=PSMB8	None	None	1407	4671
PSMB9	proteasome 20S subunit beta 9	Proteasome-associated autoinflammatory syndrome 6?0027081	https://raresource.nih.gov/literature/gene/PSMB9	5698	ENSG00000240065	9546	https://pubmed.ncbi.nlm.nih.gov/?term=PSMB9	None	None	3293	969
PSMC3IP	PSMC3 interacting protein	46 XX gonadal dysgenesis?0005671;Ovarian dysgenesis 3?0018041	https://raresource.nih.gov/literature/gene/PSMC3IP	29893	ENSG00000131470	17928	https://pubmed.ncbi.nlm.nih.gov/?term=PSMC3IP	None	None	2254	109
PSMD12	proteasome 26S subunit, non-ATPase 12	Stankiewicz-Isidor syndrome?0027062	https://raresource.nih.gov/literature/gene/PSMD12	5718	ENSG00000197170	9557	https://pubmed.ncbi.nlm.nih.gov/?term=PSMD12	None	None	11889	1466
PSMG2	proteasome assembly chaperone 2	Proteasome-associated autoinflammatory syndrome 4?0018449	https://raresource.nih.gov/literature/gene/PSMG2	56984	ENSG00000128789	24929	https://pubmed.ncbi.nlm.nih.gov/?term=PSMG2	None	None	14958	73
PSPH	phosphoserine phosphatase	Deficiency of phosphoserine phosphatase?0016717;Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency?0022337	https://raresource.nih.gov/literature/gene/PSPH	5723	ENSG00000146733	9577	https://pubmed.ncbi.nlm.nih.gov/?term=PSPH	None	None	17133	770
PSTPIP1	proline-serine-threonine phosphatase interacting protein 1	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome?0009176;Hyperzincemia and hypercalprotectinemia?0027262	https://raresource.nih.gov/literature/gene/PSTPIP1	9051	ENSG00000140368	9580	https://pubmed.ncbi.nlm.nih.gov/?term=PSTPIP1	None	None	13062	205
PTCD3	pentatricopeptide repeat domain 3	Combined oxidative phosphorylation deficiency 51?0025815	https://raresource.nih.gov/literature/gene/PTCD3	55037	ENSG00000132300	24717	https://pubmed.ncbi.nlm.nih.gov/?term=PTCD3	None	None	13132	20
PTCH1	patched 1	Holoprosencephaly 7?0024874;Lobar holoprosencephaly?0016830;Microform holoprosencephaly?0017290;Basal cell nevus syndrome 1?0026952;Gorlin syndrome?0007166;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/PTCH1	5727	ENSG00000185920	9585	https://pubmed.ncbi.nlm.nih.gov/?term=PTCH1	None	None	39075	745
PTCH2	patched 2	Medulloblastoma?0007005;Commissural facial cleft?0016975;Gorlin syndrome?0007166	https://raresource.nih.gov/literature/gene/PTCH2	8643	ENSG00000117425	9586	https://pubmed.ncbi.nlm.nih.gov/?term=PTCH2	None	None	12795	280
PTDSS1	phosphatidylserine synthase 1	Lenz-Majewski hyperostosis syndrome?0003223	https://raresource.nih.gov/literature/gene/PTDSS1	9791	ENSG00000156471	9587	https://pubmed.ncbi.nlm.nih.gov/?term=PTDSS1	None	None	27357	151
PTEN	phosphatase and tensin homolog	Bannayan-Riley-Ruvalcaba syndrome?0005887;Familial prostate cancer?0027144;Oral cavity squamous cell carcinoma?0017932;Oropharyngeal squamous cell carcinoma?0017928;Laryngeal squamous cell carcinoma?0017908;Familial meningioma?0018385;Paranasal sinus squamous cell carcinoma?0017927;Proteus-like syndrome?0012801;Cowden syndrome 1?0016450;Lhermitte-Duclos disease?0006901;Cowden syndrome?0006202;Macrocephaly-autism syndrome?0017112;Hypopharynx squamous cell carcinoma?0017907;Squamous cell carcinoma of lip?0017933	https://raresource.nih.gov/literature/gene/PTEN	5728	ENSG00000171862,ENSG00000284792	9588	https://pubmed.ncbi.nlm.nih.gov/?term=PTEN	None	None	49825	26730
PTF1A	pancreas associated transcription factor 1a	Pancreatic agenesis 2?0016033;Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome?0016670;Pancreatic agenesis?0004203	https://raresource.nih.gov/literature/gene/PTF1A	256297	ENSG00000168267	23734	https://pubmed.ncbi.nlm.nih.gov/?term=PTF1A	None	None	2570	855
PTH	parathyroid hormone	Familial isolated hypoparathyroidism due to impaired PTH secretion?0017088;Hypoparathyroidism, familial isolated 1?0024578	https://raresource.nih.gov/literature/gene/PTH	5741	ENSG00000152266	9606	https://pubmed.ncbi.nlm.nih.gov/?term=PTH	None	None	2529	33003
PTH1R	parathyroid hormone 1 receptor	Chondrodysplasia Blomstrand type?0000914;Metaphyseal chondrodysplasia, Jansen type?0000079;Enchondromatosis?0007251;Primary failure of tooth eruption?0017692;Eiken syndrome?0016698	https://raresource.nih.gov/literature/gene/PTH1R	5745	ENSG00000160801	9608	https://pubmed.ncbi.nlm.nih.gov/?term=PTH1R	None	None	10699	1080
PTHLH	parathyroid hormone like hormone	Brachydactyly type E?0000987;Brachydactyly type E2?0015654	https://raresource.nih.gov/literature/gene/PTHLH	5744	ENSG00000087494	9607	https://pubmed.ncbi.nlm.nih.gov/?term=PTHLH	None	None	5854	6183
PTPN11	protein tyrosine phosphatase non-receptor type 11	LEOPARD syndrome 1?0026037;Tetralogy of Fallot?0002245;Juvenile myelomonocytic leukemia?0009884;Noonan syndrome 1?0007223;Noonan syndrome with multiple lentigines?0001100;Noonan syndrome?0010955;Metachondromatosis?0003560	https://raresource.nih.gov/literature/gene/PTPN11	5781	ENSG00000179295	9644	https://pubmed.ncbi.nlm.nih.gov/?term=PTPN11	None	None	30180	6740
PTPN14	protein tyrosine phosphatase non-receptor type 14	Lymphedema-posterior choanal atresia syndrome?0016898	https://raresource.nih.gov/literature/gene/PTPN14	5784	ENSG00000152104	9647	https://pubmed.ncbi.nlm.nih.gov/?term=PTPN14	None	None	79974	3164
PTPN3	protein tyrosine phosphatase non-receptor type 3	Cholangiocarcinoma?0009304	https://raresource.nih.gov/literature/gene/PTPN3	5774	ENSG00000070159	9655	https://pubmed.ncbi.nlm.nih.gov/?term=PTPN3	None	None	46253	121
PTPN6	protein tyrosine phosphatase non-receptor type 6	Classic pyoderma gangrenosum?0022220;Bullous pyoderma gangrenosum?0022222;Vegetative pyoderma gangrenosum?0022223;Pustular pyoderma gangrenosum?0022221	https://raresource.nih.gov/literature/gene/PTPN6	5777	ENSG00000111679	9658	https://pubmed.ncbi.nlm.nih.gov/?term=PTPN6	None	None	5400	2647
PTPRC	protein tyrosine phosphatase receptor type C	T-B+ severe combined immunodeficiency due to CD45 deficiency?0017052;Immunodeficiency 105?0026436	https://raresource.nih.gov/literature/gene/PTPRC	5788	ENSG00000081237	9666	https://pubmed.ncbi.nlm.nih.gov/?term=PTPRC	None	None	45582	14513
PTPRF	protein tyrosine phosphatase receptor type F	Isolated congenital breast hypoplasia/aplasia?0009489;Breasts and/or nipples, aplasia or hypoplasia of, 2?0016044	https://raresource.nih.gov/literature/gene/PTPRF	5792	ENSG00000142949	9670	https://pubmed.ncbi.nlm.nih.gov/?term=PTPRF	None	None	41640	636
PTPRJ	protein tyrosine phosphatase receptor type J	Thrombocytopenia 10?0026868	https://raresource.nih.gov/literature/gene/PTPRJ	5795	ENSG00000149177	9673	https://pubmed.ncbi.nlm.nih.gov/?term=PTPRJ	None	None	28006	577
PTPRO	protein tyrosine phosphatase receptor type O	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Nephrotic syndrome, type 6?0015770	https://raresource.nih.gov/literature/gene/PTPRO	5800	ENSG00000151490	9678	https://pubmed.ncbi.nlm.nih.gov/?term=PTPRO	None	None	67189	230
PTPRQ	protein tyrosine phosphatase receptor type Q	Autosomal recessive nonsyndromic hearing loss 84A?0022634;Hearing loss, autosomal recessive?0018117;Hearing loss, autosomal dominant 73?0018149;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/PTPRQ	374462	ENSG00000139304	9679	https://pubmed.ncbi.nlm.nih.gov/?term=PTPRQ	None	None	64645	70
PTRH2	peptidyl-tRNA hydrolase 2	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1?0017791	https://raresource.nih.gov/literature/gene/PTRH2	51651	ENSG00000141378	24265	https://pubmed.ncbi.nlm.nih.gov/?term=PTRH2	None	None	2613	15731
PTS	6-pyruvoyltetrahydropterin synthase	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency?0005682	https://raresource.nih.gov/literature/gene/PTS	5805	ENSG00000150787	9689	https://pubmed.ncbi.nlm.nih.gov/?term=PTS	None	None	7566	1747
PUF60	poly(U) binding splicing factor 60	8q24.3 microdeletion syndrome?0012814;Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome?0017948	https://raresource.nih.gov/literature/gene/PUF60	22827	ENSG00000179950	17042	https://pubmed.ncbi.nlm.nih.gov/?term=PUF60	None	None	6869	2
PUM1	pumilio RNA binding family member 1	Spinocerebellar ataxia 47?0022351;PUM1-associated developmental disability-ataxia-seizure syndrome?0027314	https://raresource.nih.gov/literature/gene/PUM1	9698	ENSG00000134644	14957	https://pubmed.ncbi.nlm.nih.gov/?term=PUM1	None	None	54762	220
PURA	purine rich element binding protein A	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion?0021383;PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome?0027440;PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation?0017740	https://raresource.nih.gov/literature/gene/PURA	5813	ENSG00000185129	9701	https://pubmed.ncbi.nlm.nih.gov/?term=PURA	None	None	7552	420
PUS1	pseudouridine synthase 1	Myopathy, lactic acidosis, and sideroblastic anemia?0003885;Myopathy, lactic acidosis, and sideroblastic anemia 1?0025428	https://raresource.nih.gov/literature/gene/PUS1	80324	ENSG00000177192	15508	https://pubmed.ncbi.nlm.nih.gov/?term=PUS1	None	None	6065	104
PUS3	pseudouridine synthase 3	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome?0017895	https://raresource.nih.gov/literature/gene/PUS3	83480	ENSG00000110060	25461	https://pubmed.ncbi.nlm.nih.gov/?term=PUS3	None	None	2589	92
PUS7	pseudouridine synthase 7	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature?0018516	https://raresource.nih.gov/literature/gene/PUS7	54517	ENSG00000091127	26033	https://pubmed.ncbi.nlm.nih.gov/?term=PUS7	None	None	32135	71
PWAR1	Prader Willi/Angelman region RNA 1	Prader-Willi syndrome?0005575	https://raresource.nih.gov/literature/gene/PWAR1	145624	ENSG00000279050	30089	https://pubmed.ncbi.nlm.nih.gov/?term=PWAR1	None	None	None	3195
PWRN1	Prader-Willi region non-protein coding RNA 1	Prader-Willi syndrome?0005575	https://raresource.nih.gov/literature/gene/PWRN1	791114	ENSG00000259905	33235	https://pubmed.ncbi.nlm.nih.gov/?term=PWRN1	None	None	171553	20
PXDN	peroxidasin	Anterior segment dysgenesis 7?0017327	https://raresource.nih.gov/literature/gene/PXDN	7837	ENSG00000130508	14966	https://pubmed.ncbi.nlm.nih.gov/?term=PXDN	None	None	52489	490
PYCR1	pyrroline-5-carboxylate reductase 1	Autosomal recessive cutis laxa type 2B?0001641;PYCR1-related de Barsy syndrome?0017340	https://raresource.nih.gov/literature/gene/PYCR1	5831	ENSG00000183010	9721	https://pubmed.ncbi.nlm.nih.gov/?term=PYCR1	None	None	2742	374
PYCR2	pyrroline-5-carboxylate reductase 2	Autosomal recessive primary microcephaly?0012117;Hypomyelinating leukodystrophy 10?0025008	https://raresource.nih.gov/literature/gene/PYCR2	29920	ENSG00000143811	30262	https://pubmed.ncbi.nlm.nih.gov/?term=PYCR2	None	None	224	55
PYGL	glycogen phosphorylase L	Glycogen storage disease, type VI?0006529	https://raresource.nih.gov/literature/gene/PYGL	5836	ENSG00000100504	9725	https://pubmed.ncbi.nlm.nih.gov/?term=PYGL	None	None	25436	192
PYGM	glycogen phosphorylase, muscle associated	Glycogen storage disease, type V?0006528	https://raresource.nih.gov/literature/gene/PYGM	5837	ENSG00000068976	9726	https://pubmed.ncbi.nlm.nih.gov/?term=PYGM	None	None	6763	521
PYROXD1	pyridine nucleotide-disulphide oxidoreductase domain 1	Myofibrillar myopathy 8?0025045	https://raresource.nih.gov/literature/gene/PYROXD1	79912	ENSG00000121350	26162	https://pubmed.ncbi.nlm.nih.gov/?term=PYROXD1	None	None	8720	22
QARS1	glutaminyl-tRNA synthetase 1	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome?0017672;Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome?0021751	https://raresource.nih.gov/literature/gene/QARS1	5859	ENSG00000172053	9751	https://pubmed.ncbi.nlm.nih.gov/?term=QARS1	None	None	5157	174
QDPR	quinoid dihydropteridine reductase	Dihydropteridine reductase deficiency?0004319	https://raresource.nih.gov/literature/gene/QDPR	5860	ENSG00000151552	9752	https://pubmed.ncbi.nlm.nih.gov/?term=QDPR	None	None	21394	790
QRICH1	glutamine rich 1	Ververi-Brady syndrome?0018015	https://raresource.nih.gov/literature/gene/QRICH1	54870	ENSG00000198218	24713	https://pubmed.ncbi.nlm.nih.gov/?term=QRICH1	None	None	29890	28
QRSL1	glutaminyl-tRNA amidotransferase subunit QRSL1	Combined oxidative phosphorylation deficiency 40?0018006	https://raresource.nih.gov/literature/gene/QRSL1	55278	ENSG00000130348	21020	https://pubmed.ncbi.nlm.nih.gov/?term=QRSL1	None	None	14974	795
RAB11A	RAB11A, member RAS oncogene family	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/RAB11A	8766	ENSG00000103769	9760	https://pubmed.ncbi.nlm.nih.gov/?term=RAB11A	None	None	34902	602
RAB18	RAB18, member RAS oncogene family	Warburg micro syndrome?0005534;Warburg micro syndrome 3?0015778	https://raresource.nih.gov/literature/gene/RAB18	22931	ENSG00000099246	14244	https://pubmed.ncbi.nlm.nih.gov/?term=RAB18	None	None	15623	296
RAB23	RAB23, member RAS oncogene family	RAB23-related Carpenter syndrome?0015128;Carpenter syndrome?0006003	https://raresource.nih.gov/literature/gene/RAB23	51715	ENSG00000112210	14263	https://pubmed.ncbi.nlm.nih.gov/?term=RAB23	None	None	13658	145
RAB27A	RAB27A, member RAS oncogene family	Griscelli syndrome type 2?0004483	https://raresource.nih.gov/literature/gene/RAB27A	5873	ENSG00000069974	9766	https://pubmed.ncbi.nlm.nih.gov/?term=RAB27A	None	None	32200	1301
RAB28	RAB28, member RAS oncogene family	Cone-rod dystrophy?0010790;RAB28-related retinopathy?0026223;Cone-rod dystrophy 18?0015953	https://raresource.nih.gov/literature/gene/RAB28	9364	ENSG00000157869	9768	https://pubmed.ncbi.nlm.nih.gov/?term=RAB28	None	None	45585	45
RAB33B	RAB33B, member RAS oncogene family	Smith-McCort dysplasia?0010620;Smith-McCort dysplasia 2?0015921	https://raresource.nih.gov/literature/gene/RAB33B	83452	ENSG00000172007	16075	https://pubmed.ncbi.nlm.nih.gov/?term=RAB33B	None	None	10320	193
RAB34	RAB34, member RAS oncogene family	Orofaciodigital syndrome 20?0026978	https://raresource.nih.gov/literature/gene/RAB34	83871	ENSG00000109113	16519	https://pubmed.ncbi.nlm.nih.gov/?term=RAB34	None	None	2033	117
RAB39B	RAB39B, member RAS oncogene family	Early-onset parkinsonism-intellectual disability syndrome?0003203;Non-syndromic X-linked intellectual disability?0018640;Intellectual disability, X-linked 72?0022671;Chromosome Xq28 duplication syndrome?0015266	https://raresource.nih.gov/literature/gene/RAB39B	116442	ENSG00000155961	16499	https://pubmed.ncbi.nlm.nih.gov/?term=RAB39B	None	None	1965	92
RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	Warburg micro syndrome 1?0024758;Warburg micro syndrome?0005534;Martsolf syndrome 2?0025555	https://raresource.nih.gov/literature/gene/RAB3GAP1	22930	ENSG00000115839	17063	https://pubmed.ncbi.nlm.nih.gov/?term=RAB3GAP1	None	None	46924	1484
RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	Warburg micro syndrome?0005534;Martsolf syndrome 1?0003406;Autosomal recessive spastic paraplegia type 69?0021699;Warburg micro syndrome 2?0015780	https://raresource.nih.gov/literature/gene/RAB3GAP2	25782	ENSG00000118873	17168	https://pubmed.ncbi.nlm.nih.gov/?term=RAB3GAP2	None	None	44804	471
RAB7A	RAB7A, member RAS oncogene family	Charcot-Marie-Tooth disease type 2B?0009192	https://raresource.nih.gov/literature/gene/RAB7A	7879	ENSG00000075785	9788	https://pubmed.ncbi.nlm.nih.gov/?term=RAB7A	None	None	38618	1862
RAC1	Rac family small GTPase 1	Intellectual disability, autosomal dominant 48?0017924	https://raresource.nih.gov/literature/gene/RAC1	5879	ENSG00000136238	9801	https://pubmed.ncbi.nlm.nih.gov/?term=RAC1	None	None	17312	10416
RAC2	Rac family small GTPase 2	Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia?0018300;Neutrophil immunodeficiency syndrome?0017087;Reticular dysgenesis-like severe combined immunodeficiency?0027422;Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia?0025808	https://raresource.nih.gov/literature/gene/RAC2	5880	ENSG00000128340	9802	https://pubmed.ncbi.nlm.nih.gov/?term=RAC2	None	None	6159	1311
RAC3	Rac family small GTPase 3	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies?0027135	https://raresource.nih.gov/literature/gene/RAC3	5881	ENSG00000169750	9803	https://pubmed.ncbi.nlm.nih.gov/?term=RAC3	None	None	1621	290
RACGAP1	Rac GTPase activating protein 1	Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive?0025619	https://raresource.nih.gov/literature/gene/RACGAP1	29127	ENSG00000161800	9804	https://pubmed.ncbi.nlm.nih.gov/?term=RACGAP1	None	None	12831	331
RAD21	RAD21 cohesin complex component	Cornelia de Lange syndrome 4?0015837;De Lange syndrome?0010109	https://raresource.nih.gov/literature/gene/RAD21	5885	ENSG00000164754	9811	https://pubmed.ncbi.nlm.nih.gov/?term=RAD21	None	None	11405	990
RAD50	RAD50 double strand break repair protein	Nijmegen breakage syndrome-like disorder?0017184	https://raresource.nih.gov/literature/gene/RAD50	10111	ENSG00000113522	9816	https://pubmed.ncbi.nlm.nih.gov/?term=RAD50	None	None	39627	19
RAD51	RAD51 recombinase	Familial cancer of breast?0017142;Mirror movements 2?0015814;Bimanual synkinesia?0012551;Fanconi anemia?0006425;Fanconi anemia complementation group R?0016214	https://raresource.nih.gov/literature/gene/RAD51	5888	ENSG00000051180	9817	https://pubmed.ncbi.nlm.nih.gov/?term=RAD51	None	None	14361	11550
RAD51C	RAD51 paralog C	RAD51C-related cancer predisposition?0026413;Fanconi anemia?0006425;Fanconi anemia complementation group O?0015656;Hereditary breast ovarian cancer syndrome?0015010	https://raresource.nih.gov/literature/gene/RAD51C	5889	ENSG00000108384	9820	https://pubmed.ncbi.nlm.nih.gov/?term=RAD51C	None	None	16114	734
RAD51D	RAD51 paralog D	Hereditary breast ovarian cancer syndrome?0015010;RAD51D-related cancer predisposition?0026414	https://raresource.nih.gov/literature/gene/RAD51D	5892	ENSG00000185379	9823	https://pubmed.ncbi.nlm.nih.gov/?term=RAD51D	None	None	7691	562
RAD54B	RAD54 homolog B	Lymphoma, non-Hodgkin, familial?0024804	https://raresource.nih.gov/literature/gene/RAD54B	25788	ENSG00000197275	17228	https://pubmed.ncbi.nlm.nih.gov/?term=RAD54B	None	None	36122	155
RAD54L	RAD54 like	Lymphoma, non-Hodgkin, familial?0024804;Familial cancer of breast?0017142	https://raresource.nih.gov/literature/gene/RAD54L	8438	ENSG00000085999	9826	https://pubmed.ncbi.nlm.nih.gov/?term=RAD54L	None	None	12933	155
RAF1	Raf-1 proto-oncogene, serine/threonine kinase	Familial isolated dilated cardiomyopathy?0027293;Noonan syndrome 5?0010700;Tetralogy of Fallot?0002245;Dilated cardiomyopathy 1NN?0016031;Noonan syndrome with multiple lentigines?0001100;Noonan syndrome?0010955;LEOPARD syndrome 2?0015518	https://raresource.nih.gov/literature/gene/RAF1	5894	ENSG00000132155	9829	https://pubmed.ncbi.nlm.nih.gov/?term=RAF1	None	None	42559	6069
RAG1	recombination activating 1	Combined immunodeficiency due to partial RAG1 deficiency?0013712;Histiocytic medullary reticulosis?0008198;Combined immunodeficiency with skin granulomas?0013587;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive?0010339	https://raresource.nih.gov/literature/gene/RAG1	5896	ENSG00000166349	9831	https://pubmed.ncbi.nlm.nih.gov/?term=RAG1	None	None	27099	3352
RAG2	recombination activating 2	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive?0010339;Combined immunodeficiency with skin granulomas?0013587;Histiocytic medullary reticulosis?0008198	https://raresource.nih.gov/literature/gene/RAG2	5897	ENSG00000175097	9832	https://pubmed.ncbi.nlm.nih.gov/?term=RAG2	None	None	3427	2689
RAI1	retinoic acid induced 1	Smith-Magenis syndrome?0008197;17p11.2 microduplication syndrome?0010145	https://raresource.nih.gov/literature/gene/RAI1	10743	ENSG00000108557	9834	https://pubmed.ncbi.nlm.nih.gov/?term=RAI1	None	None	37045	580
RANBP2	RAN binding protein 2	Familial acute necrotizing encephalopathy?0013232	https://raresource.nih.gov/literature/gene/RANBP2	5903	ENSG00000153201	9848	https://pubmed.ncbi.nlm.nih.gov/?term=RANBP2	None	None	30826	1250
RAP1B	RAP1B, member of RAS oncogene family	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies?0026906	https://raresource.nih.gov/literature/gene/RAP1B	5908	ENSG00000127314	9857	https://pubmed.ncbi.nlm.nih.gov/?term=RAP1B	None	None	19087	697
RAPGEF2	Rap guanine nucleotide exchange factor 2	Epilepsy, familial adult myoclonic, 7?0025987	https://raresource.nih.gov/literature/gene/RAPGEF2	9693	ENSG00000109756	16854	https://pubmed.ncbi.nlm.nih.gov/?term=RAPGEF2	None	None	91184	92
RAPSN	receptor associated protein of the synapse	Fetal akinesia deformation sequence 2?0016495;Postsynaptic congenital myasthenic syndrome?0015022;Congenital myasthenic syndrome 11?0016089	https://raresource.nih.gov/literature/gene/RAPSN	5913	ENSG00000165917	9863	https://pubmed.ncbi.nlm.nih.gov/?term=RAPSN	None	None	6346	1379
RARA	retinoic acid receptor alpha	Acute promyelocytic leukemia?0000538	https://raresource.nih.gov/literature/gene/RARA	5914	ENSG00000131759	9864	https://pubmed.ncbi.nlm.nih.gov/?term=RARA	None	None	19300	6292
RARB	retinoic acid receptor beta	Microphthalmia, syndromic 12?0013235	https://raresource.nih.gov/literature/gene/RARB	5915	ENSG00000077092	9865	https://pubmed.ncbi.nlm.nih.gov/?term=RARB	None	None	70575	1870
RARS1	arginyl-tRNA synthetase 1	Hypomyelinating leukodystrophy 9?0017734	https://raresource.nih.gov/literature/gene/RARS1	5917	ENSG00000113643	9870	https://pubmed.ncbi.nlm.nih.gov/?term=RARS1	None	None	15063	896
RARS2	arginyl-tRNA synthetase 2, mitochondrial	Pontocerebellar hypoplasia type 6?0010710	https://raresource.nih.gov/literature/gene/RARS2	57038	ENSG00000146282	21406	https://pubmed.ncbi.nlm.nih.gov/?term=RARS2	None	None	32012	118
RASA1	RAS p21 protein activator 1	Capillary malformation-arteriovenous malformation 1?0009787	https://raresource.nih.gov/literature/gene/RASA1	5921	ENSG00000145715	9871	https://pubmed.ncbi.nlm.nih.gov/?term=RASA1	None	None	49977	3950
RASA2	RAS p21 protein activator 2	Noonan syndrome?0010955	https://raresource.nih.gov/literature/gene/RASA2	5922	ENSG00000155903	9872	https://pubmed.ncbi.nlm.nih.gov/?term=RASA2	None	None	43681	78
RASGRP1	RAS guanyl releasing protein 1	Immunodeficiency 64?0016360	https://raresource.nih.gov/literature/gene/RASGRP1	10125	ENSG00000172575	9878	https://pubmed.ncbi.nlm.nih.gov/?term=RASGRP1	None	None	23880	393
RASGRP2	RAS guanyl releasing protein 2	Platelet-type bleeding disorder 18?0017695	https://raresource.nih.gov/literature/gene/RASGRP2	10235	ENSG00000068831	9879	https://pubmed.ncbi.nlm.nih.gov/?term=RASGRP2	None	None	8559	154
RAX	retina and anterior neural fold homeobox	Nanophthalmia?0016637;Microphthalmia, isolated, with coloboma?0003644;Isolated microphthalmia 3?0024876	https://raresource.nih.gov/literature/gene/RAX	30062	ENSG00000134438	18662	https://pubmed.ncbi.nlm.nih.gov/?term=RAX	None	None	3202	382
RAX2	retina and anterior neural fold homeobox 2	Retinitis pigmentosa 95?0026688;Cone-rod dystrophy?0010790;Cone-rod dystrophy 11?0015484;Age related macular degeneration 6?0024919	https://raresource.nih.gov/literature/gene/RAX2	84839	ENSG00000173976	18286	https://pubmed.ncbi.nlm.nih.gov/?term=RAX2	None	None	2362	34
RB1	RB transcriptional corepressor 1	Non-hereditary retinoblastoma?0017545;Hereditary retinoblastoma?0017544;Small cell lung carcinoma?0009344;Bone osteosarcoma?0007284;Retinoblastoma?0007563	https://raresource.nih.gov/literature/gene/RB1	5925	ENSG00000139687	9884	https://pubmed.ncbi.nlm.nih.gov/?term=RB1	None	None	52216	17008
RB1CC1	RB1 inducible coiled-coil 1	Familial cancer of breast?0017142	https://raresource.nih.gov/literature/gene/RB1CC1	9821	ENSG00000023287	15574	https://pubmed.ncbi.nlm.nih.gov/?term=RB1CC1	None	None	35321	686
RBBP8	RB binding protein 8, endonuclease	Seckel syndrome 2?0015399;Jawad syndrome?0017410;Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/RBBP8	5932	ENSG00000101773	9891	https://pubmed.ncbi.nlm.nih.gov/?term=RBBP8	None	None	25097	1021
RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	Polyglucosan body myopathy type 1?0017643;Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis?0017494	https://raresource.nih.gov/literature/gene/RBCK1	10616	ENSG00000125826	15864	https://pubmed.ncbi.nlm.nih.gov/?term=RBCK1	None	None	9119	6
RBFOX2	RNA binding fox-1 homolog 2	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/RBFOX2	23543	ENSG00000100320	9906	https://pubmed.ncbi.nlm.nih.gov/?term=RBFOX2	None	None	66670	995
RBM10	RNA binding motif protein 10	TARP syndrome?0010089	https://raresource.nih.gov/literature/gene/RBM10	8241	ENSG00000182872	9896	https://pubmed.ncbi.nlm.nih.gov/?term=RBM10	None	None	9141	114
RBM20	RNA binding motif protein 20	Dilated cardiomyopathy 1DD?0015627;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/RBM20	282996	ENSG00000203867	27424	https://pubmed.ncbi.nlm.nih.gov/?term=RBM20	None	None	71587	222
RBM28	RNA binding motif protein 28	ANE syndrome?0016987	https://raresource.nih.gov/literature/gene/RBM28	55131	ENSG00000106344	21863	https://pubmed.ncbi.nlm.nih.gov/?term=RBM28	None	None	17711	29
RBM8A	RNA binding motif protein 8A	Radial aplasia-thrombocytopenia syndrome?0005116	https://raresource.nih.gov/literature/gene/RBM8A	9939	ENSG00000265241	9905	https://pubmed.ncbi.nlm.nih.gov/?term=RBM8A	None	None	3246	1175
RBMX	RNA binding motif protein X-linked	Severe X-linked intellectual disability, Gustavson type?0005611;Syndromic X-linked intellectual disability Shashi type?0004119	https://raresource.nih.gov/literature/gene/RBMX	27316	ENSG00000147274	9910	https://pubmed.ncbi.nlm.nih.gov/?term=RBMX	None	None	9724	184
RBP3	retinol binding protein 3	Retinitis pigmentosa 66?0015923;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/RBP3	5949	ENSG00000265203	9921	https://pubmed.ncbi.nlm.nih.gov/?term=RBP3	None	None	5416	1005
RBP4	retinol binding protein 4	Progressive retinal dystrophy due to retinol transport defect?0017529;Microphthalmia, isolated, with coloboma?0003644;Microphthalmia, isolated, with coloboma 10?0016110	https://raresource.nih.gov/literature/gene/RBP4	5950	ENSG00000138207	9922	https://pubmed.ncbi.nlm.nih.gov/?term=RBP4	None	None	510	3850
RBPJ	recombination signal binding protein for immunoglobulin kappa J region	Adams-Oliver syndrome?0005739;Adams-Oliver syndrome 3?0015842	https://raresource.nih.gov/literature/gene/RBPJ	3516	ENSG00000168214	5724	https://pubmed.ncbi.nlm.nih.gov/?term=RBPJ	None	None	45600	1932
RBSN	rabenosyn, RAB effector	Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN?0027197;Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome?0027196	https://raresource.nih.gov/literature/gene/RBSN	64145	ENSG00000131381	20759	https://pubmed.ncbi.nlm.nih.gov/?term=RBSN	None	None	12223	47
RC3H1	ring finger and CCCH-type domains 1	Hemophagocytic lymphohistiocytosis, familial, 6?0016400	https://raresource.nih.gov/literature/gene/RC3H1	149041	ENSG00000135870	29434	https://pubmed.ncbi.nlm.nih.gov/?term=RC3H1	None	None	35702	130
RCBTB1	RCC1 and BTB domain containing protein 1	Reticular dystrophy of the retinal pigment epithelium?0016891;RCBTB1-related retinopathy?0018241	https://raresource.nih.gov/literature/gene/RCBTB1	55213	ENSG00000136144	18243	https://pubmed.ncbi.nlm.nih.gov/?term=RCBTB1	None	None	15715	2397
RD3	RD3 regulator of GUCY2D	Leber congenital amaurosis?0000634;RD3-related retinopathy?0026384;Leber congenital amaurosis 12?0010489	https://raresource.nih.gov/literature/gene/RD3	343035	ENSG00000198570	19689	https://pubmed.ncbi.nlm.nih.gov/?term=RD3	None	None	7407	93
RDH11	retinol dehydrogenase 11	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome?0017730	https://raresource.nih.gov/literature/gene/RDH11	51109	ENSG00000072042	17964	https://pubmed.ncbi.nlm.nih.gov/?term=RDH11	None	None	5206	64
RDH12	retinol dehydrogenase 12	RDH12-related dominant retinopathy?0026433;RDH12-related recessive retinopathy?0026432;Leber congenital amaurosis?0000634;Leber congenital amaurosis 13?0010882	https://raresource.nih.gov/literature/gene/RDH12	145226	ENSG00000139988	19977	https://pubmed.ncbi.nlm.nih.gov/?term=RDH12	None	None	9450	182
RDH5	retinol dehydrogenase 5	RDH5-related retinopathy?0026218;Pigmentary retinal dystrophy?0013809	https://raresource.nih.gov/literature/gene/RDH5	5959	ENSG00000135437	9940	https://pubmed.ncbi.nlm.nih.gov/?term=RDH5	None	None	1917	172
RDX	radixin	Autosomal recessive nonsyndromic hearing loss 24?0022626;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/RDX	5962	ENSG00000137710	9944	https://pubmed.ncbi.nlm.nih.gov/?term=RDX	None	None	86093	1410
REC114	REC114 meiotic recombination protein	Oocyte maturation defect 10?0018500	https://raresource.nih.gov/literature/gene/REC114	283677	ENSG00000183324	25065	https://pubmed.ncbi.nlm.nih.gov/?term=REC114	None	None	37279	60
RECQL	RecQ like helicase	RECON progeroid syndrome?0027548	https://raresource.nih.gov/literature/gene/RECQL	5965	ENSG00000004700	9948	https://pubmed.ncbi.nlm.nih.gov/?term=RECQL	None	None	3078	253
RECQL4	RecQ like helicase 4	Baller-Gerold syndrome?0001602;Rapadilino syndrome?0004637;Rothmund-Thomson syndrome type 2?0017135	https://raresource.nih.gov/literature/gene/RECQL4	9401	ENSG00000160957	9949	https://pubmed.ncbi.nlm.nih.gov/?term=RECQL4	None	None	8632	432
REEP1	receptor accessory protein 1	Neuronopathy, distal hereditary motor, type 5?0016955;Hereditary spastic paraplegia 31?0010817;Spinal muscular atrophy, distal, autosomal recessive, 6?0026685;Neuronopathy, distal hereditary motor, type 5B?0018267	https://raresource.nih.gov/literature/gene/REEP1	65055	ENSG00000068615	25786	https://pubmed.ncbi.nlm.nih.gov/?term=REEP1	None	None	43741	138
REEP2	receptor accessory protein 2	Spastic paraplegia 72b, autosomal recessive?0026898;Hereditary spastic paraplegia 72?0017660	https://raresource.nih.gov/literature/gene/REEP2	51308	ENSG00000132563	17975	https://pubmed.ncbi.nlm.nih.gov/?term=REEP2	None	None	4544	18
REEP6	receptor accessory protein 6	REEP6-related retinopathy?0027580;Retinitis pigmentosa 77?0016221	https://raresource.nih.gov/literature/gene/REEP6	92840	ENSG00000115255	30078	https://pubmed.ncbi.nlm.nih.gov/?term=REEP6	None	None	3421	33
RELA	RELA proto-oncogene, NF-kB subunit	Combined immunodeficiency due to RELA haploinsufficiency?0022392	https://raresource.nih.gov/literature/gene/RELA	5970	ENSG00000173039	9955	https://pubmed.ncbi.nlm.nih.gov/?term=RELA	None	None	4662	18952
RELB	RELB proto-oncogene, NF-kB subunit	Immunodeficiency 53?0027369	https://raresource.nih.gov/literature/gene/RELB	5971	ENSG00000104856	9956	https://pubmed.ncbi.nlm.nih.gov/?term=RELB	None	None	12586	1389
RELN	reelin	Autosomal dominant epilepsy with auditory features?0002257;Norman-Roberts syndrome?0016780;Epilepsy, familial temporal lobe, 1?0026356;Familial temporal lobe epilepsy 7?0016112	https://raresource.nih.gov/literature/gene/RELN	5649	ENSG00000189056	9957	https://pubmed.ncbi.nlm.nih.gov/?term=RELN	None	None	194510	2194
RELT	RELT TNF receptor	Amelogenesis imperfecta type 1?0000645;Amelogenesis imperfecta, type 3C?0025728	https://raresource.nih.gov/literature/gene/RELT	84957	ENSG00000054967	13764	https://pubmed.ncbi.nlm.nih.gov/?term=RELT	None	None	8339	56
REN	renin	Familial juvenile hyperuricemic nephropathy type 2?0013461;Renal tubular dysgenesis of genetic origin?0016854	https://raresource.nih.gov/literature/gene/REN	5972	ENSG00000143839	9958	https://pubmed.ncbi.nlm.nih.gov/?term=REN	None	None	14371	46515
REPS1	RALBP1 associated Eps domain containing 1	Neurodegeneration with brain iron accumulation 7?0025969	https://raresource.nih.gov/literature/gene/REPS1	85021	ENSG00000135597	15578	https://pubmed.ncbi.nlm.nih.gov/?term=REPS1	None	None	29945	157
RERE	arginine-glutamic acid dipeptide repeats	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart?0017902	https://raresource.nih.gov/literature/gene/RERE	473	ENSG00000142599	9965	https://pubmed.ncbi.nlm.nih.gov/?term=RERE	None	None	195554	1202
REST	RE1 silencing transcription factor	Hereditary gingival fibromatosis?0016582;Wilms tumor 6?0016162;Fibromatosis, gingival, 5?0018357;Autosomal dominant nonsyndromic hearing loss 27?0018128	https://raresource.nih.gov/literature/gene/REST	5978	ENSG00000084093	9966	https://pubmed.ncbi.nlm.nih.gov/?term=REST	None	None	13858	1414
RET	ret proto-oncogene	Familial medullary thyroid carcinoma?0016901;Aganglionic megacolon?0006660;Multiple endocrine neoplasia type 2B?0010225;Pheochromocytoma?0015105;Multiple endocrine neoplasia type 2A?0004881;Haddad syndrome?0016909;Unilateral renal agenesis?0016804;Bilateral renal agenesis?0016579	https://raresource.nih.gov/literature/gene/RET	5979	ENSG00000165731	9967	https://pubmed.ncbi.nlm.nih.gov/?term=RET	None	None	25510	9367
RETREG1	reticulophagy regulator 1	Hereditary sensory and autonomic neuropathy type 2?0003976;Neuropathy, hereditary sensory and autonomic, type 2B?0015618	https://raresource.nih.gov/literature/gene/RETREG1	54463	ENSG00000154153	25964	https://pubmed.ncbi.nlm.nih.gov/?term=RETREG1	None	None	52121	257
REV3L	REV3 like, DNA directed polymerase zeta catalytic subunit	Oromandibular-limb hypogenesis spectrum?0008549	https://raresource.nih.gov/literature/gene/REV3L	5980	ENSG00000009413	9968	https://pubmed.ncbi.nlm.nih.gov/?term=REV3L	None	None	71237	325
RFC1	replication factor C subunit 1	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome?0017937	https://raresource.nih.gov/literature/gene/RFC1	5981	ENSG00000035928	9969	https://pubmed.ncbi.nlm.nih.gov/?term=RFC1	None	None	30012	2953
RFC4	replication factor C subunit 4	Morimoto-Ryu-Malicdan neuromuscular syndrome?0027404	https://raresource.nih.gov/literature/gene/RFC4	5984	ENSG00000163918	9972	https://pubmed.ncbi.nlm.nih.gov/?term=RFC4	None	None	6798	461
RFT1	RFT1 glycolipid translocator homolog	RFT1-congenital disorder of glycosylation?0012394	https://raresource.nih.gov/literature/gene/RFT1	91869	ENSG00000163933	30220	https://pubmed.ncbi.nlm.nih.gov/?term=RFT1	None	None	16732	178
RFWD3	ring finger and WD repeat domain 3	Fanconi anemia?0006425;Fanconi anemia, complementation group W?0025895	https://raresource.nih.gov/literature/gene/RFWD3	55159	ENSG00000168411	25539	https://pubmed.ncbi.nlm.nih.gov/?term=RFWD3	None	None	21501	61
RFX5	regulatory factor X5	MHC class II deficiency?0000824;MHC class II deficiency 3?0027107;MHC class II deficiency 5?0027109	https://raresource.nih.gov/literature/gene/RFX5	5993	ENSG00000143390	9986	https://pubmed.ncbi.nlm.nih.gov/?term=RFX5	None	None	4070	3
RFX6	regulatory factor X6	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome?0005237	https://raresource.nih.gov/literature/gene/RFX6	222546	ENSG00000185002	21478	https://pubmed.ncbi.nlm.nih.gov/?term=RFX6	None	None	20197	126
RFXANK	regulatory factor X associated ankyrin containing protein	MHC class II deficiency 2?0027106;MHC class II deficiency?0000824	https://raresource.nih.gov/literature/gene/RFXANK	8625	ENSG00000064490	9987	https://pubmed.ncbi.nlm.nih.gov/?term=RFXANK	None	None	3201	78
RFXAP	regulatory factor X associated protein	MHC class II deficiency?0000824;MHC class II deficiency 4?0027108	https://raresource.nih.gov/literature/gene/RFXAP	5994	ENSG00000133111	9988	https://pubmed.ncbi.nlm.nih.gov/?term=RFXAP	None	None	3266	76
RGR	retinal G protein coupled receptor	Retinitis pigmentosa 44?0015705	https://raresource.nih.gov/literature/gene/RGR	5995	ENSG00000148604	9990	https://pubmed.ncbi.nlm.nih.gov/?term=RGR	None	None	8826	135
RGS9	regulator of G protein signaling 9	Prolonged electroretinal response suppression 1?0026957;Bradyopsia?0012299	https://raresource.nih.gov/literature/gene/RGS9	8787	ENSG00000108370	10004	https://pubmed.ncbi.nlm.nih.gov/?term=RGS9	None	None	45609	246
RGS9BP	regulator of G protein signaling 9 binding protein	Prolonged electroretinal response suppression 2?0026966;Bradyopsia?0012299	https://raresource.nih.gov/literature/gene/RGS9BP	388531	ENSG00000186326	30304	https://pubmed.ncbi.nlm.nih.gov/?term=RGS9BP	None	None	1951	197
RHAG	Rh associated glycoprotein	Rh deficiency syndrome?0012916;Overhydrated hereditary stomatocytosis?0004183	https://raresource.nih.gov/literature/gene/RHAG	6005	ENSG00000112077	10006	https://pubmed.ncbi.nlm.nih.gov/?term=RHAG	None	None	14284	373
RHBDF2	rhomboid 5 homolog 2	Palmoplantar keratoderma-esophageal carcinoma syndrome?0003102	https://raresource.nih.gov/literature/gene/RHBDF2	79651	ENSG00000129667	20788	https://pubmed.ncbi.nlm.nih.gov/?term=RHBDF2	None	None	13626	680
RHD	Rh blood group D antigen	Hemolytic disease of fetus and newborn, RH-induced?0026662	https://raresource.nih.gov/literature/gene/RHD	6007	ENSG00000187010	10009	https://pubmed.ncbi.nlm.nih.gov/?term=RHD	None	None	22578	5383
RHO	rhodopsin	Congenital stationary night blindness?0025068;Congenital stationary night blindness autosomal dominant 1?0015488;Pigmentary retinal dystrophy?0013809;Retinitis pigmentosa 4?0010405	https://raresource.nih.gov/literature/gene/RHO	6010	ENSG00000163914	10012	https://pubmed.ncbi.nlm.nih.gov/?term=RHO	None	None	4571	34666
RHOA	ras homolog family member A	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies?0022358	https://raresource.nih.gov/literature/gene/RHOA	387	ENSG00000067560	667	https://pubmed.ncbi.nlm.nih.gov/?term=RHOA	None	None	28642	12606
RHOBTB2	Rho related BTB domain containing 2	Alternating hemiplegia of childhood?0000011;Developmental and epileptic encephalopathy, 64?0013681	https://raresource.nih.gov/literature/gene/RHOBTB2	23221	ENSG00000008853	18756	https://pubmed.ncbi.nlm.nih.gov/?term=RHOBTB2	None	None	12836	130
RHOH	ras homolog family member H	T-cell immunodeficiency with epidermodysplasia verruciformis?0017483	https://raresource.nih.gov/literature/gene/RHOH	399	ENSG00000168421	686	https://pubmed.ncbi.nlm.nih.gov/?term=RHOH	None	None	21478	236
RIGI	RNA sensor RIG-I	Singleton-Merten syndrome?0000122;Singleton-Merten syndrome 2?0016078	https://raresource.nih.gov/literature/gene/RIGI	23586	ENSG00000107201	19102	https://pubmed.ncbi.nlm.nih.gov/?term=RIGI	None	None	None	3576
RILPL1	Rab interacting lysosomal protein like 1	Oculopharyngodistal myopathy 4?0025620;Oculopharyngodistal myopathy?0012592	https://raresource.nih.gov/literature/gene/RILPL1	353116	ENSG00000188026	26814	https://pubmed.ncbi.nlm.nih.gov/?term=RILPL1	None	None	4931	52
RIMS1	regulating synaptic membrane exocytosis 1	Cone-rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/RIMS1	22999	ENSG00000079841	17282	https://pubmed.ncbi.nlm.nih.gov/?term=RIMS1	None	None	197397	396
RIN2	Ras and Rab interactor 2	RIN2 syndrome?0017120	https://raresource.nih.gov/literature/gene/RIN2	54453	ENSG00000132669	18750	https://pubmed.ncbi.nlm.nih.gov/?term=RIN2	None	None	61298	116
RINT1	RAD50 interactor 1	Infantile liver failure?0017820;Infantile liver failure syndrome 3?0016483	https://raresource.nih.gov/literature/gene/RINT1	60561	ENSG00000135249	21876	https://pubmed.ncbi.nlm.nih.gov/?term=RINT1	None	None	13642	61
RIPK1	receptor interacting serine/threonine kinase 1	Autoinflammation with episodic fever and lymphadenopathy?0015002;Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome?0022204	https://raresource.nih.gov/literature/gene/RIPK1	8737	ENSG00000137275	10019	https://pubmed.ncbi.nlm.nih.gov/?term=RIPK1	None	None	21419	4921
RIPK4	receptor interacting serine/threonine kinase 4	Bartsocas-Papas syndrome 1?0004436;Curly hair, ankyloblepharon, nail dysplasia syndrome?0001233	https://raresource.nih.gov/literature/gene/RIPK4	54101	ENSG00000183421	496	https://pubmed.ncbi.nlm.nih.gov/?term=RIPK4	None	None	8844	181
RIPOR2	RHO family interacting cell polarization regulator 2	Autosomal recessive nonsyndromic hearing loss 104?0022654;Hearing loss, autosomal recessive?0018117;Autosomal dominant nonsyndromic hearing loss 21?0018116	https://raresource.nih.gov/literature/gene/RIPOR2	9750	ENSG00000111913	13872	https://pubmed.ncbi.nlm.nih.gov/?term=RIPOR2	None	None	86715	60
RIPPLY2	ripply transcriptional repressor 2	Spondylocostal dysostosis 6, autosomal recessive?0012807;Autosomal recessive spondylocostal dysostosis?0006798	https://raresource.nih.gov/literature/gene/RIPPLY2	134701	ENSG00000203877	21390	https://pubmed.ncbi.nlm.nih.gov/?term=RIPPLY2	None	None	2347	37
RIT1	Ras like without CAAX 1	Noonan syndrome?0010955;Noonan syndrome 8?0015949	https://raresource.nih.gov/literature/gene/RIT1	6016	ENSG00000143622	10023	https://pubmed.ncbi.nlm.nih.gov/?term=RIT1	None	None	7928	481
RLBP1	retinaldehyde binding protein 1	Bothnia retinal dystrophy?0016734;Retinitis punctata albescens?0016655;RLBP1-related retinopathy?0026219;Newfoundland cone-rod dystrophy?0024826;Pigmentary retinal dystrophy?0013809	https://raresource.nih.gov/literature/gene/RLBP1	6017	ENSG00000140522	10024	https://pubmed.ncbi.nlm.nih.gov/?term=RLBP1	None	None	4250	383
RLIM	ring finger protein, LIM domain interacting	Intellectual disability, X-linked 61?0022695	https://raresource.nih.gov/literature/gene/RLIM	51132	ENSG00000131263	13429	https://pubmed.ncbi.nlm.nih.gov/?term=RLIM	None	None	6608	105
RMI2	RecQ mediated genome instability 2	Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome?0017949	https://raresource.nih.gov/literature/gene/RMI2	116028	ENSG00000175643	28349	https://pubmed.ncbi.nlm.nih.gov/?term=RMI2	None	None	55231	70
RMND1	required for meiotic nuclear division 1 homolog	Combined oxidative phosphorylation defect type 11?0017487	https://raresource.nih.gov/literature/gene/RMND1	55005	ENSG00000155906	21176	https://pubmed.ncbi.nlm.nih.gov/?term=RMND1	None	None	21898	47
RMP64	ribonuclease MRP subunit p64	Anauxetic dysplasia?0009657;Anauxetic dysplasia 3?0025510	https://raresource.nih.gov/literature/gene/RMP64	25871	ENSG00000163608	24496	https://pubmed.ncbi.nlm.nih.gov/?term=RMP64	None	None	None	14
RMRP	RNA component of mitochondrial RNA processing endoribonuclease	Anauxetic dysplasia?0009657;Metaphyseal chondrodysplasia, McKusick type?0006996;Anauxetic dysplasia 1?0025948;Metaphyseal dysplasia without hypotrichosis?0010622	https://raresource.nih.gov/literature/gene/RMRP	6023	ENSG00000277027	10031	https://pubmed.ncbi.nlm.nih.gov/?term=RMRP	None	None	146	867
RNASEH1	ribonuclease H1	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2?0018450;Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy?0017503	https://raresource.nih.gov/literature/gene/RNASEH1	246243	ENSG00000171865	18466	https://pubmed.ncbi.nlm.nih.gov/?term=RNASEH1	None	None	9135	197
RNASEH2A	ribonuclease H2 subunit A	Aicardi Goutieres syndrome?0000575;RNASEH2A-related type 1 interferonopathy?0026402;Aicardi-Goutieres syndrome 4?0015480	https://raresource.nih.gov/literature/gene/RNASEH2A	10535	ENSG00000104889	18518	https://pubmed.ncbi.nlm.nih.gov/?term=RNASEH2A	None	None	4160	1989
RNASEH2B	ribonuclease H2 subunit B	Aicardi Goutieres syndrome?0000575;RNASEH2B-related type 1 interferonopathy?0026400;Aicardi-Goutieres syndrome 2?0015472	https://raresource.nih.gov/literature/gene/RNASEH2B	79621	ENSG00000136104	25671	https://pubmed.ncbi.nlm.nih.gov/?term=RNASEH2B	None	None	20898	113
RNASEH2C	ribonuclease H2 subunit C	Aicardi Goutieres syndrome?0000575;RNASEH2C-related type 1 interferonopathy?0026401;Aicardi-Goutieres syndrome 3?0015479	https://raresource.nih.gov/literature/gene/RNASEH2C	84153	ENSG00000172922	24116	https://pubmed.ncbi.nlm.nih.gov/?term=RNASEH2C	None	None	1595	146
RNASEL	ribonuclease L	Prostate cancer, hereditary, 1?0015334	https://raresource.nih.gov/literature/gene/RNASEL	6041	ENSG00000135828	10050	https://pubmed.ncbi.nlm.nih.gov/?term=RNASEL	None	None	7998	1061
RNASET2	ribonuclease T2	Cystic leukoencephalopathy without megalencephaly?0013199	https://raresource.nih.gov/literature/gene/RNASET2	8635	ENSG00000026297	21686	https://pubmed.ncbi.nlm.nih.gov/?term=RNASET2	None	None	14862	185
RNF113A	ring finger protein 113A	Trichothiodystrophy 5, nonphotosensitive?0015277;Trichothiodystrophy?0012109	https://raresource.nih.gov/literature/gene/RNF113A	7737	ENSG00000125352	12974	https://pubmed.ncbi.nlm.nih.gov/?term=RNF113A	None	None	597	1455
RNF13	ring finger protein 13	Developmental and epileptic encephalopathy, 73?0017988	https://raresource.nih.gov/literature/gene/RNF13	11342	ENSG00000082996	10057	https://pubmed.ncbi.nlm.nih.gov/?term=RNF13	None	None	52783	68
RNF139	ring finger protein 139	Nonpapillary renal cell carcinoma?0024575	https://raresource.nih.gov/literature/gene/RNF139	11236	ENSG00000170881	17023	https://pubmed.ncbi.nlm.nih.gov/?term=RNF139	None	None	6555	140
RNF168	ring finger protein 168	RIDDLE syndrome?0017701	https://raresource.nih.gov/literature/gene/RNF168	165918	ENSG00000163961	26661	https://pubmed.ncbi.nlm.nih.gov/?term=RNF168	None	None	17394	280
RNF170	ring finger protein 170	Spastic paraplegia 85, autosomal recessive?0025586;Autosomal dominant sensory ataxia 1?0024850	https://raresource.nih.gov/literature/gene/RNF170	81790	ENSG00000120925	25358	https://pubmed.ncbi.nlm.nih.gov/?term=RNF170	None	None	17677	44
RNF213	ring finger protein 213	Moyamoya disease 2?0015410	https://raresource.nih.gov/literature/gene/RNF213	57674	ENSG00000173821	14539	https://pubmed.ncbi.nlm.nih.gov/?term=RNF213	None	None	61078	521
RNF216	ring finger protein 216	Cerebellar ataxia-hypogonadism syndrome?0003314	https://raresource.nih.gov/literature/gene/RNF216	54476	ENSG00000011275	21698	https://pubmed.ncbi.nlm.nih.gov/?term=RNF216	None	None	74806	88
RNF220	ring finger protein 220	Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy?0025588	https://raresource.nih.gov/literature/gene/RNF220	55182	ENSG00000187147	25552	https://pubmed.ncbi.nlm.nih.gov/?term=RNF220	None	None	81561	48
RNF31	ring finger protein 31	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis?0017494	https://raresource.nih.gov/literature/gene/RNF31	55072	ENSG00000092098	16031	https://pubmed.ncbi.nlm.nih.gov/?term=RNF31	None	None	6230	238
RNF43	ring finger protein 43	Hyperplastic polyposis syndrome?0016982;Sessile serrated polyposis cancer syndrome?0025033	https://raresource.nih.gov/literature/gene/RNF43	54894	ENSG00000108375	18505	https://pubmed.ncbi.nlm.nih.gov/?term=RNF43	None	None	19352	469
RNF6	ring finger protein 6	Carcinoma of esophagus?0006383	https://raresource.nih.gov/literature/gene/RNF6	6049	ENSG00000127870	10069	https://pubmed.ncbi.nlm.nih.gov/?term=RNF6	None	None	29738	22
RNPC3	RNA binding region (RNP1, RRM) containing 3	Isolated growth hormone deficiency, type 5?0025704	https://raresource.nih.gov/literature/gene/RNPC3	55599	ENSG00000185946	18666	https://pubmed.ncbi.nlm.nih.gov/?term=RNPC3	None	None	11118	769
RNU12	RNA, U12 small nuclear	Craniosynostosis-anal anomalies-porokeratosis syndrome?0009506;Congenital cerebellar ataxia due to RNU12 mutation?0022075	https://raresource.nih.gov/literature/gene/RNU12	267010	ENSG00000276027	19380	https://pubmed.ncbi.nlm.nih.gov/?term=RNU12	None	None	None	11
RNU4-2	RNA, U4 small nuclear 2	Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language?0027315	https://raresource.nih.gov/literature/gene/RNU4-2	26834	ENSG00000202538	10193	https://pubmed.ncbi.nlm.nih.gov/?term=RNU4-2	None	None	1525	42
RNU4ATAC	RNA, U4atac small nuclear	RNU4ATAC spectrum disorder?0027275;Roifman syndrome?0009163;Microcephalic osteodysplastic primordial dwarfism types I and III?0005120;Osteodysplastic primordial dwarfism, type 1?0015144;Lowry-Wood syndrome?0000264	https://raresource.nih.gov/literature/gene/RNU4ATAC	100151683	ENSG00000264229	34016	https://pubmed.ncbi.nlm.nih.gov/?term=RNU4ATAC	None	None	None	242
RNU7-1	RNA, U7 small nuclear 1	Aicardi Goutieres syndrome?0000575;Aicardi-Goutieres syndrome 9?0025553;RNU7-1-related type 1 interferonopathy?0026406	https://raresource.nih.gov/literature/gene/RNU7-1	100147744	ENSG00000238923	34033	https://pubmed.ncbi.nlm.nih.gov/?term=RNU7-1	None	None	None	11
ROBO1	roundabout guidance receptor 1	Pituitary hormone deficiency, combined or isolated, 8?0026788;Pituitary stalk interruption syndrome?0013209;Nystagmus, congenital, autosomal recessive?0009609	https://raresource.nih.gov/literature/gene/ROBO1	6091	ENSG00000169855	10249	https://pubmed.ncbi.nlm.nih.gov/?term=ROBO1	None	None	437215	720
ROBO2	roundabout guidance receptor 2	Vesicoureteral reflux 2?0018419;Familial vesicoureteral reflux?0017323	https://raresource.nih.gov/literature/gene/ROBO2	6092	ENSG00000185008	10250	https://pubmed.ncbi.nlm.nih.gov/?term=ROBO2	None	None	694684	389
ROBO3	roundabout guidance receptor 3	Gaze palsy, familial horizontal, with progressive scoliosis 1?0025251;Horizontal gaze palsy with progressive scoliosis?0012682	https://raresource.nih.gov/literature/gene/ROBO3	64221	ENSG00000154134	13433	https://pubmed.ncbi.nlm.nih.gov/?term=ROBO3	None	None	6521	286
ROBO4	roundabout guidance receptor 4	Tetralogy of Fallot?0002245;Aortic valve disease 3?0025742	https://raresource.nih.gov/literature/gene/ROBO4	54538	ENSG00000154133	17985	https://pubmed.ncbi.nlm.nih.gov/?term=ROBO4	None	None	3321	225
ROGDI	rogdi atypical leucine zipper	Amelocerebrohypohidrotic syndrome?0003128	https://raresource.nih.gov/literature/gene/ROGDI	79641	ENSG00000067836	29478	https://pubmed.ncbi.nlm.nih.gov/?term=ROGDI	None	None	3048	52
ROM1	retinal outer segment membrane protein 1	Retinitis pigmentosa 7, digenic?0027592;Retinitis pigmentosa?0005694;Retinitis pigmentosa 7?0010386	https://raresource.nih.gov/literature/gene/ROM1	6094	ENSG00000149489	10254	https://pubmed.ncbi.nlm.nih.gov/?term=ROM1	None	None	1306	157
ROR1	receptor tyrosine kinase like orphan receptor 1	Hearing loss, autosomal recessive 108?0022658;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/ROR1	4919	ENSG00000185483	10256	https://pubmed.ncbi.nlm.nih.gov/?term=ROR1	None	None	137658	52
ROR2	receptor tyrosine kinase like orphan receptor 2	Brachydactyly type B1?0018009;Autosomal recessive Robinow syndrome?0016568	https://raresource.nih.gov/literature/gene/ROR2	4920	ENSG00000169071	10257	https://pubmed.ncbi.nlm.nih.gov/?term=ROR2	None	None	148562	647
RORC	RAR related orphan receptor C	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency?0017861	https://raresource.nih.gov/literature/gene/RORC	6097	ENSG00000143365	10260	https://pubmed.ncbi.nlm.nih.gov/?term=RORC	None	None	10151	3252
RP1	RP1 axonemal microtubule associated	Retinitis pigmentosa 1?0009149;RP1-related recessive retinopathy?0026549;RP1-related dominant retinopathy?0026550	https://raresource.nih.gov/literature/gene/RP1	6101	ENSG00000104237	10263	https://pubmed.ncbi.nlm.nih.gov/?term=RP1	None	None	142313	669
RP1L1	RP1 like 1	Occult macular dystrophy?0017200;Retinitis pigmentosa 88?0016385	https://raresource.nih.gov/literature/gene/RP1L1	94137	ENSG00000183638	15946	https://pubmed.ncbi.nlm.nih.gov/?term=RP1L1	None	None	40714	96
RP2	RP2 activator of ARL3 GTPase	RP2-related retinopathy?0026217;Retinitis pigmentosa 2?0010380	https://raresource.nih.gov/literature/gene/RP2	6102	ENSG00000102218	10274	https://pubmed.ncbi.nlm.nih.gov/?term=RP2	None	None	8860	323
RP9	RP9 pre-mRNA splicing factor	Retinitis pigmentosa 9?0010382	https://raresource.nih.gov/literature/gene/RP9	6100	ENSG00000164610	10288	https://pubmed.ncbi.nlm.nih.gov/?term=RP9	None	None	5705	4144
RPA1	replication protein A1	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6?0025613	https://raresource.nih.gov/literature/gene/RPA1	6117	ENSG00000132383	10289	https://pubmed.ncbi.nlm.nih.gov/?term=RPA1	None	None	20519	1202
RPE65	retinoid isomerohydrolase RPE65	RPE65-related recessive retinopathy?0026155;Retinitis pigmentosa 87 with choroidal involvement?0016374;Retinitis pigmentosa 20?0010404;RPE65-related dominant retinopathy?0026226;Leber congenital amaurosis?0000634;Leber congenital amaurosis 2?0000636	https://raresource.nih.gov/literature/gene/RPE65	6121	ENSG00000116745	10294	https://pubmed.ncbi.nlm.nih.gov/?term=RPE65	None	None	9258	7223
RPGR	retinitis pigmentosa GTPase regulator	Macular degeneration, X-linked atrophic?0015268;Cone-rod dystrophy?0010790;Retinitis pigmentosa 3?0010381;X-linked cone-rod dystrophy 1?0010652;RPGR-related retinopathy?0026213;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/RPGR	6103	ENSG00000156313	10295	https://pubmed.ncbi.nlm.nih.gov/?term=RPGR	None	None	10277	714
RPGRIP1	RPGR interacting protein 1	Leber congenital amaurosis?0000634;Leber congenital amaurosis 6?0010490;Cone-rod dystrophy?0010790;Cone-rod dystrophy 13?0015426	https://raresource.nih.gov/literature/gene/RPGRIP1	57096	ENSG00000092200	13436	https://pubmed.ncbi.nlm.nih.gov/?term=RPGRIP1	None	None	21354	183
RPGRIP1L	RPGRIP1 like	Joubert syndrome 7?0015519;Meckel syndrome, type 5?0015520;COACH syndrome?0001410;Meckel-Gruber syndrome?0003436;COACH syndrome 3?0016423	https://raresource.nih.gov/literature/gene/RPGRIP1L	23322	ENSG00000103494	29168	https://pubmed.ncbi.nlm.nih.gov/?term=RPGRIP1L	None	None	26166	159
RPIA	ribose 5-phosphate isomerase A	Deficiency of ribose-5-phosphate isomerase?0017747	https://raresource.nih.gov/literature/gene/RPIA	22934	ENSG00000153574	10297	https://pubmed.ncbi.nlm.nih.gov/?term=RPIA	None	None	22410	258
RPL10	ribosomal protein L10	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome?0017815;X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome?0017721;Intellectual disability, X-linked, syndromic, 35?0025657	https://raresource.nih.gov/literature/gene/RPL10	6134	ENSG00000147403	10298	https://pubmed.ncbi.nlm.nih.gov/?term=RPL10	None	None	2051	800
RPL11	ribosomal protein L11	Diamond-Blackfan anemia 7?0015569;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPL11	6135	ENSG00000142676	10301	https://pubmed.ncbi.nlm.nih.gov/?term=RPL11	None	None	4329	721
RPL13	ribosomal protein L13	Spondyloepimetaphyseal dysplasia, Isidor type?0021586;Spondyloepimetaphyseal dysplasia, Isidor-Toutain type?0027137	https://raresource.nih.gov/literature/gene/RPL13	6137	ENSG00000167526	10303	https://pubmed.ncbi.nlm.nih.gov/?term=RPL13	None	None	4963	243
RPL15	ribosomal protein L15	Diamond-Blackfan anemia 12?0015985;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPL15	6138	ENSG00000174748	10306	https://pubmed.ncbi.nlm.nih.gov/?term=RPL15	None	None	1372	307
RPL18	ribosomal protein L18	Diamond-Blackfan anemia 18?0016338;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPL18	6141	ENSG00000063177	10310	https://pubmed.ncbi.nlm.nih.gov/?term=RPL18	None	None	1909	215
RPL21	ribosomal protein L21	Hypotrichosis 12?0016027;Hypotrichosis simplex?0009170	https://raresource.nih.gov/literature/gene/RPL21	6144	ENSG00000122026	10313	https://pubmed.ncbi.nlm.nih.gov/?term=RPL21	None	None	2978	107
RPL26	ribosomal protein L26	Diamond-Blackfan anemia 11?0015879;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPL26	6154	ENSG00000161970	10327	https://pubmed.ncbi.nlm.nih.gov/?term=RPL26	None	None	2370	428
RPL27	ribosomal protein L27	Diamond-Blackfan anemia 16?0016227	https://raresource.nih.gov/literature/gene/RPL27	6155	ENSG00000131469	10328	https://pubmed.ncbi.nlm.nih.gov/?term=RPL27	None	None	2857	220
RPL35	ribosomal protein L35	Diamond-Blackfan anemia 19?0016339;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPL35	11224	ENSG00000136942	10344	https://pubmed.ncbi.nlm.nih.gov/?term=RPL35	None	None	1628	99
RPL35A	ribosomal protein L35a	Diamond-Blackfan anemia 5?0015562;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPL35A	6165	ENSG00000182899	10345	https://pubmed.ncbi.nlm.nih.gov/?term=RPL35A	None	None	376	84
RPL3L	ribosomal protein L3 like	Cardiomyopathy, dilated, 2D?0025531;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/RPL3L	6123	ENSG00000140986	10351	https://pubmed.ncbi.nlm.nih.gov/?term=RPL3L	None	None	6518	612
RPL5	ribosomal protein L5	Diamond-Blackfan anemia 6?0015568;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPL5	6125	ENSG00000122406	10360	https://pubmed.ncbi.nlm.nih.gov/?term=RPL5	None	None	4963	763
RPL8	ribosomal protein L8	Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPL8	6132	ENSG00000161016	10368	https://pubmed.ncbi.nlm.nih.gov/?term=RPL8	None	None	2459	216
RPL9	ribosomal protein L9	Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPL9	6133	ENSG00000163682	10369	https://pubmed.ncbi.nlm.nih.gov/?term=RPL9	None	None	2281	244
RPS10	ribosomal protein S10	Diamond-Blackfan anemia 9?0015644;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPS10	6204	ENSG00000124614	10383	https://pubmed.ncbi.nlm.nih.gov/?term=RPS10	None	None	21	398
RPS14	ribosomal protein S14	Myelodysplastic syndrome associated with isolated del(5q)?0008723	https://raresource.nih.gov/literature/gene/RPS14	6208	ENSG00000164587	10387	https://pubmed.ncbi.nlm.nih.gov/?term=RPS14	None	None	4158	581
RPS15	ribosomal protein S15	B-cell chronic lymphocytic leukemia?0006104	https://raresource.nih.gov/literature/gene/RPS15	6209	ENSG00000115268	10388	https://pubmed.ncbi.nlm.nih.gov/?term=RPS15	None	None	2781	665
RPS15A	ribosomal protein S15a	Diamond-Blackfan anemia 20?0016340;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPS15A	6210	ENSG00000134419	10389	https://pubmed.ncbi.nlm.nih.gov/?term=RPS15A	None	None	4338	91
RPS17	ribosomal protein S17	Diamond-Blackfan anemia 4?0015561;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPS17	6218	ENSG00000182774	10397	https://pubmed.ncbi.nlm.nih.gov/?term=RPS17	None	None	23	208
RPS19	ribosomal protein S19	Diamond-Blackfan anemia 1?0015039;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPS19	6223	ENSG00000105372	10402	https://pubmed.ncbi.nlm.nih.gov/?term=RPS19	None	None	5651	1098
RPS20	ribosomal protein S20	Familial colorectal cancer type X?0021840;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPS20	6224	ENSG00000008988	10405	https://pubmed.ncbi.nlm.nih.gov/?term=RPS20	None	None	6062	315
RPS24	ribosomal protein S24	Diamond-Blackfan anemia 3?0010241;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPS24	6229	ENSG00000138326	10411	https://pubmed.ncbi.nlm.nih.gov/?term=RPS24	None	None	10970	140
RPS26	ribosomal protein S26	Diamond-Blackfan anemia 10?0015645;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPS26	6231	ENSG00000197728	10414	https://pubmed.ncbi.nlm.nih.gov/?term=RPS26	None	None	2378	148
RPS27	ribosomal protein S27	Diamond-Blackfan anemia 17?0016228	https://raresource.nih.gov/literature/gene/RPS27	6232	ENSG00000177954	10416	https://pubmed.ncbi.nlm.nih.gov/?term=RPS27	None	None	1629	633
RPS28	ribosomal protein S28	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis?0015390;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPS28	6234	ENSG00000233927	10418	https://pubmed.ncbi.nlm.nih.gov/?term=RPS28	None	None	383	106
RPS29	ribosomal protein S29	Diamond-Blackfan anemia 13?0016030;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPS29	6235	ENSG00000213741	10419	https://pubmed.ncbi.nlm.nih.gov/?term=RPS29	None	None	9202	93
RPS6KA3	ribosomal protein S6 kinase A3	Intellectual disability, X-linked 19?0022687;Coffin-Lowry syndrome?0006123;Non-syndromic X-linked intellectual disability?0018640;Symptomatic form of Coffin-Lowry syndrome in female carriers?0021057	https://raresource.nih.gov/literature/gene/RPS6KA3	6197	ENSG00000177189	10432	https://pubmed.ncbi.nlm.nih.gov/?term=RPS6KA3	None	None	19900	1581
RPS7	ribosomal protein S7	Diamond-Blackfan anemia 8?0015570;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/RPS7	6201	ENSG00000171863	10440	https://pubmed.ncbi.nlm.nih.gov/?term=RPS7	None	None	4062	590
RPSA	ribosomal protein SA	Familial isolated congenital asplenia?0016944	https://raresource.nih.gov/literature/gene/RPSA	3921	ENSG00000168028	6502	https://pubmed.ncbi.nlm.nih.gov/?term=RPSA	None	None	4645	2
RRAGD	Ras related GTP binding D	Hypomagnesemia 7, renal, with or without dilated cardiomyopathy?0026701;Tubular renal disease-cardiomyopathy syndrome?0018920	https://raresource.nih.gov/literature/gene/RRAGD	58528	ENSG00000025039	19903	https://pubmed.ncbi.nlm.nih.gov/?term=RRAGD	None	None	16801	73
RRAS2	RAS related 2	Noonan syndrome?0010955;Noonan syndrome 12?0016369	https://raresource.nih.gov/literature/gene/RRAS2	22800	ENSG00000133818	17271	https://pubmed.ncbi.nlm.nih.gov/?term=RRAS2	None	None	33870	141
RRM1	ribonucleotide reductase catalytic subunit M1	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6?0026904	https://raresource.nih.gov/literature/gene/RRM1	6240	ENSG00000167325	10451	https://pubmed.ncbi.nlm.nih.gov/?term=RRM1	None	None	8269	1250
RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy?0017503;Autosomal dominant progressive external ophthalmoplegia?0016486;Mitochondrial DNA depletion syndrome 8a?0013200;Kearns-Sayre syndrome?0006817;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5?0016501;Mitochondrial neurogastrointestinal encephalomyopathy?0009920	https://raresource.nih.gov/literature/gene/RRM2B	50484	ENSG00000048392	17296	https://pubmed.ncbi.nlm.nih.gov/?term=RRM2B	None	None	13252	297
RRP7A	ribosomal RNA processing 7 homolog A	Microcephaly 28, primary, autosomal recessive?0025544	https://raresource.nih.gov/literature/gene/RRP7A	27341	ENSG00000189306	24286	https://pubmed.ncbi.nlm.nih.gov/?term=RRP7A	None	None	7257	12
RS1	retinoschisin 1	Juvenile retinoschisis?0004690	https://raresource.nih.gov/literature/gene/RS1	6247	ENSG00000102104	10457	https://pubmed.ncbi.nlm.nih.gov/?term=RS1	None	None	5029	878
RSPH1	radial spoke head component 1	Primary ciliary dyskinesia 24?0015971;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/RSPH1	89765	ENSG00000160188	12371	https://pubmed.ncbi.nlm.nih.gov/?term=RSPH1	None	None	7074	72
RSPH3	radial spoke head 3	Primary ciliary dyskinesia 32?0016122;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/RSPH3	83861	ENSG00000130363	21054	https://pubmed.ncbi.nlm.nih.gov/?term=RSPH3	None	None	11339	40
RSPH4A	radial spoke head component 4A	Primary ciliary dyskinesia 11?0015574;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/RSPH4A	345895	ENSG00000111834	21558	https://pubmed.ncbi.nlm.nih.gov/?term=RSPH4A	None	None	8037	56
RSPH9	radial spoke head component 9	Primary ciliary dyskinesia 12?0015575;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/RSPH9	221421	ENSG00000172426	21057	https://pubmed.ncbi.nlm.nih.gov/?term=RSPH9	None	None	11576	43
RSPO1	R-spondin 1	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome?0016733	https://raresource.nih.gov/literature/gene/RSPO1	284654	ENSG00000169218	21679	https://pubmed.ncbi.nlm.nih.gov/?term=RSPO1	None	None	11204	474
RSPO2	R-spondin 2	Tetraamelia-multiple malformations syndrome?0000386;Tetraamelia syndrome 2?0016286	https://raresource.nih.gov/literature/gene/RSPO2	340419	ENSG00000147655	28583	https://pubmed.ncbi.nlm.nih.gov/?term=RSPO2	None	None	70530	253
RSPO4	R-spondin 4	Anonychia?0016837	https://raresource.nih.gov/literature/gene/RSPO4	343637	ENSG00000101282	16175	https://pubmed.ncbi.nlm.nih.gov/?term=RSPO4	None	None	11851	72
RSPRY1	ring finger and SPRY domain containing 1	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome?0017808	https://raresource.nih.gov/literature/gene/RSPRY1	89970	ENSG00000159579	29420	https://pubmed.ncbi.nlm.nih.gov/?term=RSPRY1	None	None	14957	8
RSRC1	arginine and serine rich coiled-coil 1	Autosomal recessive non-syndromic intellectual disability?0018643;Intellectual developmental disorder, autosomal recessive 70?0022580	https://raresource.nih.gov/literature/gene/RSRC1	51319	ENSG00000174891	24152	https://pubmed.ncbi.nlm.nih.gov/?term=RSRC1	None	None	164148	29
RTEL1	regulator of telomere elongation helicase 1	Dyskeratosis congenita?0010905;Hoyeraal-Hreidarsson syndrome?0000346;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3?0016098;Dyskeratosis congenita, autosomal recessive 5?0015917	https://raresource.nih.gov/literature/gene/RTEL1	51750	ENSG00000258366	15888	https://pubmed.ncbi.nlm.nih.gov/?term=RTEL1	None	None	27409	323
RTN2	reticulon 2	Hereditary spastic paraplegia 12?0009586;Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity?0027204	https://raresource.nih.gov/literature/gene/RTN2	6253	ENSG00000125744	10468	https://pubmed.ncbi.nlm.nih.gov/?term=RTN2	None	None	4543	1015
RTN4IP1	reticulon 4 interacting protein 1	Optic atrophy 10 with or without ataxia, intellectual disability, and seizures?0018200	https://raresource.nih.gov/literature/gene/RTN4IP1	84816	ENSG00000130347	18647	https://pubmed.ncbi.nlm.nih.gov/?term=RTN4IP1	None	None	23357	38
RTTN	rotatin	Microcephalic primordial dwarfism due to RTTN deficiency?0017841	https://raresource.nih.gov/literature/gene/RTTN	25914	ENSG00000176225	18654	https://pubmed.ncbi.nlm.nih.gov/?term=RTTN	None	None	49212	42
RUBCN	rubicon autophagy regulator	Autosomal recessive spinocerebellar ataxia 15?0017678	https://raresource.nih.gov/literature/gene/RUBCN	9711	ENSG00000145016	28991	https://pubmed.ncbi.nlm.nih.gov/?term=RUBCN	None	None	34684	25
RUNX1	RUNX family transcription factor 1	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1?0015329;Aggressive systemic mastocytosis?0019597;Acute myeloid leukemia?0012757;Hereditary thrombocytopenia and hematologic cancer predisposition syndrome?0010352	https://raresource.nih.gov/literature/gene/RUNX1	861	ENSG00000159216	10471	https://pubmed.ncbi.nlm.nih.gov/?term=RUNX1	None	None	158081	6389
RUNX2	RUNX family transcription factor 2	Cleidocranial dysostosis?0006118;Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome?0003568	https://raresource.nih.gov/literature/gene/RUNX2	860	ENSG00000124813	10472	https://pubmed.ncbi.nlm.nih.gov/?term=RUNX2	None	None	125733	12787
RUSC2	RUN and SH3 domain containing 2	Intellectual disability, autosomal recessive 61?0025660	https://raresource.nih.gov/literature/gene/RUSC2	9853	ENSG00000198853	23625	https://pubmed.ncbi.nlm.nih.gov/?term=RUSC2	None	None	24595	24
RXYLT1	ribitol xylosyltransferase 1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10?0015898;Walker-Warburg congenital muscular dystrophy?0002599	https://raresource.nih.gov/literature/gene/RXYLT1	10329	ENSG00000118600	13530	https://pubmed.ncbi.nlm.nih.gov/?term=RXYLT1	None	None	9805	250
RYR1	ryanodine receptor 1	Malignant hyperthermia of anesthesia?0006964;Benign Samaritan congenital myopathy?0021445;Autosomal recessive centronuclear myopathy?0012718;Central core myopathy?0006014;Moderate multiminicore disease with hand involvement?0017078;Congenital multicore myopathy with external ophthalmoplegia?0010316;King Denborough syndrome?0008433;RYR1-related myopathy?0026064;Congenital myopathy with myasthenic-like onset?0021783	https://raresource.nih.gov/literature/gene/RYR1	6261	ENSG00000196218	10483	https://pubmed.ncbi.nlm.nih.gov/?term=RYR1	None	None	49622	5150
RYR2	ryanodine receptor 2	Catecholaminergic polymorphic ventricular tachycardia 1?0024803;Familial isolated arrhythmogenic ventricular dysplasia, biventricular form?0017346;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form?0017347;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form?0017345;Catecholaminergic polymorphic ventricular tachycardia?0004421	https://raresource.nih.gov/literature/gene/RYR2	6262	ENSG00000198626	10484	https://pubmed.ncbi.nlm.nih.gov/?term=RYR2	None	None	323980	4629
RYR3	ryanodine receptor 3	Congenital myopathy 20?0026789	https://raresource.nih.gov/literature/gene/RYR3	6263	ENSG00000198838	10485	https://pubmed.ncbi.nlm.nih.gov/?term=RYR3	None	None	144661	425
S1PR2	sphingosine-1-phosphate receptor 2	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 68?0022625	https://raresource.nih.gov/literature/gene/S1PR2	9294	ENSG00000267534	3169	https://pubmed.ncbi.nlm.nih.gov/?term=S1PR2	None	None	4629	6182
SACS	sacsin molecular chaperone	Charlevoix-Saguenay spastic ataxia?0004910	https://raresource.nih.gov/literature/gene/SACS	26278	ENSG00000151835	10519	https://pubmed.ncbi.nlm.nih.gov/?term=SACS	None	None	30645	248
SAG	S-antigen visual arrestin	Oguchi disease?0010118;Retinitis pigmentosa 96?0026719;Retinitis pigmentosa 47?0015702;Oguchi disease-1?0024695	https://raresource.nih.gov/literature/gene/SAG	6295	ENSG00000130561	10521	https://pubmed.ncbi.nlm.nih.gov/?term=SAG	None	None	16367	1488
SALL1	spalt like transcription factor 1	Townes syndrome?0007784;Townes-Brocks syndrome 1?0025951	https://raresource.nih.gov/literature/gene/SALL1	6299	ENSG00000103449	10524	https://pubmed.ncbi.nlm.nih.gov/?term=SALL1	None	None	6936	371
SALL2	spalt like transcription factor 2	Coloboma of choroid and retina?0016875;Iris coloboma?0001434;Eyelid coloboma?0019605;Lens coloboma?0001433;Coloboma of macula?0001436	https://raresource.nih.gov/literature/gene/SALL2	6297	ENSG00000165821	10526	https://pubmed.ncbi.nlm.nih.gov/?term=SALL2	None	None	5941	87
SALL4	spalt like transcription factor 4	Duane retraction syndrome?0006288;Oculootoradial syndrome?0000269;Okihiro syndrome due to a point mutation?0020788;Duane-radial ray syndrome?0009182	https://raresource.nih.gov/literature/gene/SALL4	57167	ENSG00000101115	15924	https://pubmed.ncbi.nlm.nih.gov/?term=SALL4	None	None	7611	998
SAMD12	sterile alpha motif domain containing 12	Epilepsy, familial adult myoclonic, 1?0018082;Benign adult familial myoclonic epilepsy?0016758	https://raresource.nih.gov/literature/gene/SAMD12	401474	ENSG00000177570	31750	https://pubmed.ncbi.nlm.nih.gov/?term=SAMD12	None	None	156417	53
SAMD7	sterile alpha motif domain containing 7	Macular dystrophy with or without cone dysfunction?0027008	https://raresource.nih.gov/literature/gene/SAMD7	344658	ENSG00000187033	25394	https://pubmed.ncbi.nlm.nih.gov/?term=SAMD7	None	None	10621	15
SAMD9	sterile alpha motif domain containing 9	Normophosphatemic familial tumoral calcinosis?0010878;MIRAGE syndrome?0013108;Monosomy 7 myelodysplasia and leukemia syndrome 2?0018506	https://raresource.nih.gov/literature/gene/SAMD9	54809	ENSG00000205413	1348	https://pubmed.ncbi.nlm.nih.gov/?term=SAMD9	None	None	9626	206
SAMD9L	sterile alpha motif domain containing 9 like	SAMD9L-associated autoinflammatory syndrome?0022463;Monosomy 7 myelodysplasia and leukemia syndrome 1?0018505;Spinocerebellar ataxia 49?0025640;Ataxia-pancytopenia syndrome?0003865	https://raresource.nih.gov/literature/gene/SAMD9L	219285	ENSG00000177409	1349	https://pubmed.ncbi.nlm.nih.gov/?term=SAMD9L	None	None	8323	131
SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	SAMHD1-related type 1 interferonopathy?0026403;Familial chilblain lupus?0017874;Aicardi Goutieres syndrome?0000575;Chilblain lupus 2?0018494;Aicardi-Goutieres syndrome 5?0010151	https://raresource.nih.gov/literature/gene/SAMHD1	25939	ENSG00000101347	15925	https://pubmed.ncbi.nlm.nih.gov/?term=SAMHD1	None	None	18991	823
SAR1B	secretion associated Ras related GTPase 1B	Chylomicron retention disease?0009683	https://raresource.nih.gov/literature/gene/SAR1B	51128	ENSG00000152700	10535	https://pubmed.ncbi.nlm.nih.gov/?term=SAR1B	None	None	20779	101
SARDH	sarcosine dehydrogenase	Sarcosine dehydrogenase deficiency?0000158	https://raresource.nih.gov/literature/gene/SARDH	1757	ENSG00000123453	10536	https://pubmed.ncbi.nlm.nih.gov/?term=SARDH	None	None	32442	4391
SARS1	seryl-tRNA synthetase 1	Neurodevelopmental disorder with microcephaly, ataxia, and seizures?0022576;Autosomal recessive primary microcephaly?0012117;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/SARS1	6301	ENSG00000031698	10537	https://pubmed.ncbi.nlm.nih.gov/?term=SARS1	None	None	11266	593
SARS2	seryl-tRNA synthetase 2, mitochondrial	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome?0017569	https://raresource.nih.gov/literature/gene/SARS2	54938	ENSG00000104835	17697	https://pubmed.ncbi.nlm.nih.gov/?term=SARS2	None	None	5626	675
SASH1	SAM and SH3 domain containing 1	Dyschromatosis universalis hereditaria 1?0025411;Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome?0017776;Familial generalized lentiginosis?0017158	https://raresource.nih.gov/literature/gene/SASH1	23328	ENSG00000111961	19182	https://pubmed.ncbi.nlm.nih.gov/?term=SASH1	None	None	85694	144
SASH3	SAM and SH3 domain containing 3	Immunodeficiency 102?0026075	https://raresource.nih.gov/literature/gene/SASH3	54440	ENSG00000122122	15975	https://pubmed.ncbi.nlm.nih.gov/?term=SASH3	None	None	3788	193
SASS6	SAS-6 centriolar assembly protein	Microcephaly 14, primary, autosomal recessive?0016105;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/SASS6	163786	ENSG00000156876	25403	https://pubmed.ncbi.nlm.nih.gov/?term=SASS6	None	None	19022	146
SAT1	spermidine/spermine N1-acetyltransferase 1	Pediatric systemic lupus erythematosus?0019219	https://raresource.nih.gov/literature/gene/SAT1	6303	ENSG00000130066	10540	https://pubmed.ncbi.nlm.nih.gov/?term=SAT1	None	None	2011	1344
SATB1	SATB homeobox 1	Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome?0027405	https://raresource.nih.gov/literature/gene/SATB1	6304	ENSG00000182568	10541	https://pubmed.ncbi.nlm.nih.gov/?term=SATB1	None	None	37883	618
SATB2	SATB homeobox 2	SATB2 associated disorder?0022326;Chromosome 2q32-q33 deletion syndrome?0013206	https://raresource.nih.gov/literature/gene/SATB2	23314	ENSG00000119042	21637	https://pubmed.ncbi.nlm.nih.gov/?term=SATB2	None	None	74271	912
SBDS	SBDS ribosome maturation factor	Aplastic anemia?0020234;Shwachman-Diamond syndrome 1?0015221;Shwachman syndrome?0004863;SBDS-related severe neonatal spondylometaphyseal dysplasia?0022491	https://raresource.nih.gov/literature/gene/SBDS	51119	ENSG00000126524	19440	https://pubmed.ncbi.nlm.nih.gov/?term=SBDS	None	None	4274	340
SBF1	SET binding factor 1	Charcot-Marie-Tooth disease type 4B3?0017578	https://raresource.nih.gov/literature/gene/SBF1	6305	ENSG00000100241	10542	https://pubmed.ncbi.nlm.nih.gov/?term=SBF1	None	None	12897	63
SBF2	SET binding factor 2	Charcot-Marie-Tooth disease type 4B2?0009200	https://raresource.nih.gov/literature/gene/SBF2	81846	ENSG00000133812	2135	https://pubmed.ncbi.nlm.nih.gov/?term=SBF2	None	None	197925	140
SC5D	sterol-C5-desaturase	Lathosterolosis?0009711	https://raresource.nih.gov/literature/gene/SC5D	6309	ENSG00000109929	10547	https://pubmed.ncbi.nlm.nih.gov/?term=SC5D	None	None	6119	307
SCAPER	S-phase cyclin A associated protein in the ER	Bardet-Biedl syndrome?0006866;Intellectual developmental disorder and retinitis pigmentosa; IDDRP?0016306	https://raresource.nih.gov/literature/gene/SCAPER	49855	ENSG00000140386	13081	https://pubmed.ncbi.nlm.nih.gov/?term=SCAPER	None	None	179202	31
SCARB1	scavenger receptor class B member 1	Hyperalphalipoproteinemia?0020230	https://raresource.nih.gov/literature/gene/SCARB1	949	ENSG00000073060	1664	https://pubmed.ncbi.nlm.nih.gov/?term=SCARB1	None	None	5373	2117
SCARB2	scavenger receptor class B member 2	Action myoclonus-renal failure syndrome?0017000	https://raresource.nih.gov/literature/gene/SCARB2	950	ENSG00000138760	1665	https://pubmed.ncbi.nlm.nih.gov/?term=SCARB2	None	None	25494	394
SCARF2	scavenger receptor class F member 2	Van den Ende-Gupta syndrome?0003382	https://raresource.nih.gov/literature/gene/SCARF2	91179	ENSG00000244486	19869	https://pubmed.ncbi.nlm.nih.gov/?term=SCARF2	None	None	4920	78
SCD5	stearoyl-CoA desaturase 5	Hearing loss, autosomal dominant 79?0018157	https://raresource.nih.gov/literature/gene/SCD5	79966	ENSG00000145284	21088	https://pubmed.ncbi.nlm.nih.gov/?term=SCD5	None	None	63512	670
SCLT1	sodium channel and clathrin linker 1	Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/SCLT1	132320	ENSG00000151466	26406	https://pubmed.ncbi.nlm.nih.gov/?term=SCLT1	None	None	71672	37
SCN10A	sodium voltage-gated channel alpha subunit 10	Episodic pain syndrome, familial, 2?0018440	https://raresource.nih.gov/literature/gene/SCN10A	6336	ENSG00000185313	10582	https://pubmed.ncbi.nlm.nih.gov/?term=SCN10A	None	None	49078	793
SCN11A	sodium voltage-gated channel alpha subunit 11	Familial episodic pain syndrome with predominantly lower limb involvement?0017619;Hereditary sensory and autonomic neuropathy type 7?0012732	https://raresource.nih.gov/literature/gene/SCN11A	11280	ENSG00000168356	10583	https://pubmed.ncbi.nlm.nih.gov/?term=SCN11A	None	None	75520	365
SCN1A	sodium voltage-gated channel alpha subunit 1	Generalized epilepsy with febrile seizures plus?0018641;Familial or sporadic hemiplegic migraine?0010768;Generalized epilepsy with febrile seizures plus, type 2?0018661;Malignant migrating partial seizures of infancy?0012919;Lennox-Gastaut syndrome?0009912;Undetermined early-onset epileptic encephalopathy?0015028;Severe myoclonic epilepsy in infancy?0010430;Developmental and epileptic encephalopathy 6B?0025526;Migraine, familial hemiplegic, 3?0010974;Developmental and epileptic encephalopathy, 6A?0026036	https://raresource.nih.gov/literature/gene/SCN1A	6323	ENSG00000144285	10585	https://pubmed.ncbi.nlm.nih.gov/?term=SCN1A	None	None	63808	1952
SCN1B	sodium voltage-gated channel beta subunit 1	Generalized epilepsy with febrile seizures plus?0018641;Brugada syndrome 5?0015584;Progressive familial heart block?0010005;Atrial fibrillation, familial, 13?0015954;Developmental and epileptic encephalopathy, 52?0016223;Generalized epilepsy with febrile seizures plus, type 1?0018659	https://raresource.nih.gov/literature/gene/SCN1B	6324	ENSG00000105711	10586	https://pubmed.ncbi.nlm.nih.gov/?term=SCN1B	None	None	4094	296
SCN2A	sodium voltage-gated channel alpha subunit 2	Developmental and epileptic encephalopathy, 11?0015699;Malignant migrating partial seizures of infancy?0012919;Seizures, benign familial infantile, 3?0016521;Benign familial infantile epilepsy?0000857;Alternating hemiplegia of childhood?0000011;Episodic ataxia, type 9?0025520	https://raresource.nih.gov/literature/gene/SCN2A	6326	ENSG00000136531	10588	https://pubmed.ncbi.nlm.nih.gov/?term=SCN2A	None	None	69487	2425
SCN2B	sodium voltage-gated channel beta subunit 2	Brugada syndrome?0001030;Atrial fibrillation, familial, 14?0015955;Familial atrial fibrillation?0009740	https://raresource.nih.gov/literature/gene/SCN2B	6327	ENSG00000149575	10589	https://pubmed.ncbi.nlm.nih.gov/?term=SCN2B	None	None	5094	78
SCN3A	sodium voltage-gated channel alpha subunit 3	Developmental and epileptic encephalopathy, 62?0016271;Epilepsy, familial focal, with variable foci 4?0025973;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/SCN3A	6328	ENSG00000153253	10590	https://pubmed.ncbi.nlm.nih.gov/?term=SCN3A	None	None	42200	305
SCN3B	sodium voltage-gated channel beta subunit 3	Brugada syndrome 7?0015620;Familial atrial fibrillation?0009740	https://raresource.nih.gov/literature/gene/SCN3B	55800	ENSG00000166257	20665	https://pubmed.ncbi.nlm.nih.gov/?term=SCN3B	None	None	7127	86
SCN4A	sodium voltage-gated channel alpha subunit 4	Hypokalemic periodic paralysis, type 2?0015649;Congenital myasthenic syndrome 16?0015771;Hyperkalemic periodic paralysis?0000195;Postsynaptic congenital myasthenic syndrome?0015022;Congenital myopathy 22B, severe fetal?0026804;Hypokalemic periodic paralysis?0006729;Acetazolamide-responsive myotonia?0016906;Myotonia fluctuans?0016904;Myotonia permanens?0016905;Hypokalemic periodic paralysis, type 1?0025854;SCN4A-related channelopathy?0026568;Congenital myopathy 22A, classic?0026795;SCN4A-related myopathy, autosomal recessive?0026053;Paramyotonia congenita of Von Eulenburg?0007325;Potassium-aggravated myotonia?0004459	https://raresource.nih.gov/literature/gene/SCN4A	6329	ENSG00000007314	10591	https://pubmed.ncbi.nlm.nih.gov/?term=SCN4A	None	None	12416	685
SCN4B	sodium voltage-gated channel beta subunit 4	Long QT syndrome 10?0010436;Familial atrial fibrillation?0009740	https://raresource.nih.gov/literature/gene/SCN4B	6330	ENSG00000177098	10592	https://pubmed.ncbi.nlm.nih.gov/?term=SCN4B	None	None	6281	82
SCN5A	sodium voltage-gated channel alpha subunit 5	Progressive familial heart block?0010005;Familial isolated dilated cardiomyopathy?0027293;Atrial fibrillation, familial, 10?0015745;Familial sick sinus syndrome?0013663;Brugada syndrome 1?0024766;Brugada syndrome?0001030;Dilated cardiomyopathy 1E?0005644;Ventricular fibrillation, paroxysmal familial, type 1?0024795;Atrial standstill?0016564;Sick sinus syndrome 1?0025432;Familial atrial fibrillation?0009740;Progressive familial heart block, type 1A?0001093;Paroxysmal familial ventricular fibrillation?0004227;Long QT syndrome 3?0003286	https://raresource.nih.gov/literature/gene/SCN5A	6331	ENSG00000183873	10593	https://pubmed.ncbi.nlm.nih.gov/?term=SCN5A	None	None	41001	2954
SCN8A	sodium voltage-gated channel alpha subunit 8	Autosomal dominant non-syndromic intellectual disability?0012107;Seizures, benign familial infantile, 5?0016506;Undetermined early-onset epileptic encephalopathy?0015028;Benign familial infantile epilepsy?0000857;Developmental and epileptic encephalopathy, 13?0013085;Myoclonus, familial, 2?0026042	https://raresource.nih.gov/literature/gene/SCN8A	6334	ENSG00000196876	10596	https://pubmed.ncbi.nlm.nih.gov/?term=SCN8A	None	None	50793	979
SCN9A	sodium voltage-gated channel alpha subunit 9	Primary erythromelalgia?0006377;Hereditary sensory and autonomic neuropathy type 2?0003976;Paroxysmal extreme pain disorder?0012854;Channelopathy-associated congenital insensitivity to pain, autosomal recessive?0012267	https://raresource.nih.gov/literature/gene/SCN9A	6335	ENSG00000169432	10597	https://pubmed.ncbi.nlm.nih.gov/?term=SCN9A	None	None	69598	1237
SCNM1	sodium channel modifier 1	Orofaciodigital syndrome 19?0026690	https://raresource.nih.gov/literature/gene/SCNM1	79005	ENSG00000163156	23136	https://pubmed.ncbi.nlm.nih.gov/?term=SCNM1	None	None	3324	17
SCNN1A	sodium channel epithelial 1 subunit alpha	Idiopathic bronchiectasis?0016664;Liddle syndrome?0007381;Brugada syndrome?0001030;Liddle syndrome 3?0025502;Pseudohypoaldosteronism, type IB1, autosomal recessive?0004552;Bronchiectasis with or without elevated sweat chloride 2?0018055	https://raresource.nih.gov/literature/gene/SCNN1A	6337	ENSG00000111319	10599	https://pubmed.ncbi.nlm.nih.gov/?term=SCNN1A	None	None	9064	368
SCNN1B	sodium channel epithelial 1 subunit beta	Idiopathic bronchiectasis?0016664;Liddle syndrome 1?0025186;Bronchiectasis with or without elevated sweat chloride 1?0018054;Liddle syndrome?0007381;Pseudohypoaldosteronism, type IB2, autosomal recessive?0026693	https://raresource.nih.gov/literature/gene/SCNN1B	6338	ENSG00000168447	10600	https://pubmed.ncbi.nlm.nih.gov/?term=SCNN1B	None	None	29501	291
SCNN1G	sodium channel epithelial 1 subunit gamma	Idiopathic bronchiectasis?0016664;Pseudohypoaldosteronism, type IB3, autosomal recessive?0026694;Liddle syndrome?0007381;Bronchiectasis with or without elevated sweat chloride 3?0018056;Liddle syndrome 2?0025263	https://raresource.nih.gov/literature/gene/SCNN1G	6340	ENSG00000166828	10602	https://pubmed.ncbi.nlm.nih.gov/?term=SCNN1G	None	None	10806	218
SCO1	synthesis of cytochrome C oxidase 1	Mitochondrial complex IV deficiency, nuclear type 4?0016405;Fatal infantile encephalocardiomyopathy?0016569	https://raresource.nih.gov/literature/gene/SCO1	6341	ENSG00000133028	10603	https://pubmed.ncbi.nlm.nih.gov/?term=SCO1	None	None	7365	159
SCO2	synthesis of cytochrome C oxidase 2	Myopia 6?0009937;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1?0018570;Fatal infantile encephalocardiomyopathy?0016569;Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect?0022143	https://raresource.nih.gov/literature/gene/SCO2	9997	ENSG00000284194	10604	https://pubmed.ncbi.nlm.nih.gov/?term=SCO2	None	None	1118	3168
SCP2	sterol carrier protein 2	Sterol carrier protein 2 deficiency?0012471	https://raresource.nih.gov/literature/gene/SCP2	6342	ENSG00000116171	10606	https://pubmed.ncbi.nlm.nih.gov/?term=SCP2	None	None	46831	629
SCYL1	SCY1 like pseudokinase 1	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome?0017833	https://raresource.nih.gov/literature/gene/SCYL1	57410	ENSG00000142186	14372	https://pubmed.ncbi.nlm.nih.gov/?term=SCYL1	None	None	6170	5909
SCYL2	SCY1 like pseudokinase 2	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum?0025768	https://raresource.nih.gov/literature/gene/SCYL2	55681	ENSG00000136021	19286	https://pubmed.ncbi.nlm.nih.gov/?term=SCYL2	None	None	4410	29
SDC3	syndecan 3	Inherited obesity?0018935	https://raresource.nih.gov/literature/gene/SDC3	9672	ENSG00000162512	10660	https://pubmed.ncbi.nlm.nih.gov/?term=SDC3	None	None	16548	251
SDCCAG8	SHH signaling and ciliogenesis regulator SDCCAG8	Bardet-Biedl syndrome 16?0016040;Renal dysplasia and retinal aplasia?0000322;Bardet-Biedl syndrome?0006866;Senior-Loken syndrome 7?0015681	https://raresource.nih.gov/literature/gene/SDCCAG8	10806	ENSG00000054282	10671	https://pubmed.ncbi.nlm.nih.gov/?term=SDCCAG8	None	None	89645	32
SDHA	succinate dehydrogenase complex flavoprotein subunit A	Dilated cardiomyopathy 1GG?0015684;Neurodegeneration with ataxia and late-onset optic atrophy?0027269;Mitochondrial complex II deficiency, nuclear type 1?0005053;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/SDHA	6389	ENSG00000073578	10680	https://pubmed.ncbi.nlm.nih.gov/?term=SDHA	None	None	21418	2086
SDHAF1	succinate dehydrogenase complex assembly factor 1	Mitochondrial complex 2 deficiency, nuclear type 2?0016429	https://raresource.nih.gov/literature/gene/SDHAF1	644096	ENSG00000205138	33867	https://pubmed.ncbi.nlm.nih.gov/?term=SDHAF1	None	None	1474	32
SDHB	succinate dehydrogenase complex iron sulfur subunit B	Gastrointestinal stromal tumor?0008598;Carney-Stratakis syndrome?0010643;Mitochondrial complex 2 deficiency, nuclear type 4?0016438;Cowden syndrome?0006202	https://raresource.nih.gov/literature/gene/SDHB	6390	ENSG00000117118	10681	https://pubmed.ncbi.nlm.nih.gov/?term=SDHB	None	None	17885	6055
SDHC	succinate dehydrogenase complex subunit C	SDHC-related Mitochondrial Disease?0027540;Gastrointestinal stromal tumor?0008598;Carney-Stratakis syndrome?0010643;Cowden syndrome?0006202	https://raresource.nih.gov/literature/gene/SDHC	6391	ENSG00000143252	10682	https://pubmed.ncbi.nlm.nih.gov/?term=SDHC	None	None	26118	938
SDHD	succinate dehydrogenase complex subunit D	Carney-Stratakis syndrome?0010643;Mitochondrial complex 2 deficiency, nuclear type 3?0016430;Cowden syndrome?0006202	https://raresource.nih.gov/literature/gene/SDHD	6392	ENSG00000204370	10683	https://pubmed.ncbi.nlm.nih.gov/?term=SDHD	None	None	11812	1162
SDR9C7	short chain dehydrogenase/reductase family 9C member 7	Congenital nonbullous ichthyosiform erythroderma?0009736;Lamellar ichthyosis?0010803;Ichthyosis, congenital, autosomal recessive 13?0025785	https://raresource.nih.gov/literature/gene/SDR9C7	121214	ENSG00000170426	29958	https://pubmed.ncbi.nlm.nih.gov/?term=SDR9C7	None	None	4283	63
SEC23A	SEC23 homolog A, COPII coat complex component	Craniolenticulosutural dysplasia?0016647	https://raresource.nih.gov/literature/gene/SEC23A	10484	ENSG00000100934	10701	https://pubmed.ncbi.nlm.nih.gov/?term=SEC23A	None	None	20198	3011
SEC23B	SEC23 homolog B, COPII coat complex component	Congenital dyserythropoietic anemia, type II?0002001;Cowden syndrome 7?0016470;Cowden syndrome?0006202	https://raresource.nih.gov/literature/gene/SEC23B	10483	ENSG00000101310	10702	https://pubmed.ncbi.nlm.nih.gov/?term=SEC23B	None	None	16043	113
SEC24D	SEC24 homolog D, COPII coat complex component	Cole-Carpenter syndrome 2?0016077;Cole-Carpenter syndrome?0001425	https://raresource.nih.gov/literature/gene/SEC24D	9871	ENSG00000150961	10706	https://pubmed.ncbi.nlm.nih.gov/?term=SEC24D	None	None	41956	84
SEC61A1	SEC61 translocon subunit alpha 1	Immunodeficiency, common variable, 15?0026910;Neutropenia, severe congenital, 11, autosomal dominant?0026911	https://raresource.nih.gov/literature/gene/SEC61A1	29927	ENSG00000058262	18276	https://pubmed.ncbi.nlm.nih.gov/?term=SEC61A1	None	None	6621	466
SEC61B	SEC61 translocon subunit beta	SEC61B-related polycystic liver disease?0026290	https://raresource.nih.gov/literature/gene/SEC61B	10952	ENSG00000106803	16993	https://pubmed.ncbi.nlm.nih.gov/?term=SEC61B	None	None	3555	38
SEC63	SEC63 homolog, protein translocation regulator	Autosomal dominant polycystic liver disease?0009457;Polycystic liver disease 2?0016174	https://raresource.nih.gov/literature/gene/SEC63	11231	ENSG00000025796	21082	https://pubmed.ncbi.nlm.nih.gov/?term=SEC63	None	None	39849	189
SECISBP2	SECIS binding protein 2	Thyroid hormone metabolism, abnormal 1?0017068	https://raresource.nih.gov/literature/gene/SECISBP2	79048	ENSG00000187742	30972	https://pubmed.ncbi.nlm.nih.gov/?term=SECISBP2	None	None	16933	181
SELENBP1	selenium binding protein 1	Autosomal recessive extra-oral halitosis?0017996	https://raresource.nih.gov/literature/gene/SELENBP1	8991	ENSG00000143416	10719	https://pubmed.ncbi.nlm.nih.gov/?term=SELENBP1	None	None	5156	462
SELENOI	selenoprotein I	Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction?0017946;Spastic paraplegia 81, autosomal recessive?0025770	https://raresource.nih.gov/literature/gene/SELENOI	85465	ENSG00000138018	29361	https://pubmed.ncbi.nlm.nih.gov/?term=SELENOI	None	None	18942	104
SELENON	selenoprotein N	Congenital myopathy with fiber type disproportion?0006161;Rigid spine syndrome?0004723;Classic multiminicore myopathy?0013661;Desmin-related myopathy with Mallory body-like inclusions?0016732;Eichsfeld type congenital muscular dystrophy?0024786;SELENON-related myopathy?0026047	https://raresource.nih.gov/literature/gene/SELENON	57190	ENSG00000162430	15999	https://pubmed.ncbi.nlm.nih.gov/?term=SELENON	None	None	8538	297
SEMA3A	semaphorin 3A	Hypogonadism with anosmia?0010771;Hypogonadotropic hypogonadism 16 with or without anosmia?0015878;Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/SEMA3A	10371	ENSG00000075213	10723	https://pubmed.ncbi.nlm.nih.gov/?term=SEMA3A	None	None	118989	1454
SEMA4A	semaphorin 4A	Cone-rod dystrophy?0010790;Retinitis pigmentosa 35?0010402;Cone-rod dystrophy 10?0015477;Familial colorectal cancer type X?0021840	https://raresource.nih.gov/literature/gene/SEMA4A	64218	ENSG00000196189	10729	https://pubmed.ncbi.nlm.nih.gov/?term=SEMA4A	None	None	13164	153
SEMA4D	semaphorin 4D	Primary sclerosing cholangitis?0001280	https://raresource.nih.gov/literature/gene/SEMA4D	10507	ENSG00000187764	10732	https://pubmed.ncbi.nlm.nih.gov/?term=SEMA4D	None	None	57246	686
SEMA6B	semaphorin 6B	Epilepsy, progressive myoclonic, 11?0025513;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/SEMA6B	10501	ENSG00000167680	10739	https://pubmed.ncbi.nlm.nih.gov/?term=SEMA6B	None	None	7263	71
SEMA7A	semaphorin 7A (JohnMiltonHagen blood group)	Cholestasis, progressive familial intrahepatic, 11?0025642	https://raresource.nih.gov/literature/gene/SEMA7A	8482	ENSG00000138623	10741	https://pubmed.ncbi.nlm.nih.gov/?term=SEMA7A	None	None	7488	307
SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	Pontocerebellar hypoplasia type 2?0010705;Pontocerebellar hypoplasia type 2D?0015717	https://raresource.nih.gov/literature/gene/SEPSECS	51091	ENSG00000109618	30605	https://pubmed.ncbi.nlm.nih.gov/?term=SEPSECS	None	None	15262	1446
SEPTIN12	septin 12	Spermatogenic failure 10?0018401	https://raresource.nih.gov/literature/gene/SEPTIN12	124404	ENSG00000140623	26348	https://pubmed.ncbi.nlm.nih.gov/?term=SEPTIN12	None	None	6696	44
SEPTIN4	septin 4	Male infertility due to globozoospermia?0012502	https://raresource.nih.gov/literature/gene/SEPTIN4	5414	ENSG00000108387	9165	https://pubmed.ncbi.nlm.nih.gov/?term=SEPTIN4	None	None	6701	910
SEPTIN9	septin 9	Amyotrophic neuralgia?0003955	https://raresource.nih.gov/literature/gene/SEPTIN9	10801	ENSG00000184640	7323	https://pubmed.ncbi.nlm.nih.gov/?term=SEPTIN9	None	None	82306	713
SERAC1	serine active site containing 1	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome?0012963	https://raresource.nih.gov/literature/gene/SERAC1	84947	ENSG00000122335	21061	https://pubmed.ncbi.nlm.nih.gov/?term=SERAC1	None	None	22656	73
SERPINA1	serpin family A member 1	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation?0020148;Alpha-1-antitrypsin deficiency?0005784	https://raresource.nih.gov/literature/gene/SERPINA1	5265	ENSG00000197249	8941	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINA1	None	None	5282	13605
SERPINA6	serpin family A member 6	Corticosteroid-binding globulin deficiency?0013101	https://raresource.nih.gov/literature/gene/SERPINA6	866	ENSG00000170099	1540	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINA6	None	None	5681	1692
SERPINB6	serpin family B member 6	Autosomal recessive nonsyndromic hearing loss 91?0022636;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/SERPINB6	5269	ENSG00000124570	8950	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINB6	None	None	10720	1970
SERPINB7	serpin family B member 7	Palmoplantar keratoderma, Nagashima type?0016967	https://raresource.nih.gov/literature/gene/SERPINB7	8710	ENSG00000166396	13902	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINB7	None	None	14870	122
SERPINB8	serpin family B member 8	Peeling skin syndrome type A?0017258;Exfoliative ichthyosis?0017329;Peeling skin syndrome 5?0018427	https://raresource.nih.gov/literature/gene/SERPINB8	5271	ENSG00000166401	8952	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINB8	None	None	12913	12
SERPINC1	serpin family C member 1	Hereditary antithrombin deficiency?0006148	https://raresource.nih.gov/literature/gene/SERPINC1	462	ENSG00000117601	775	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINC1	None	None	6183	8935
SERPIND1	serpin family D member 1	Heparin cofactor II deficiency?0024895	https://raresource.nih.gov/literature/gene/SERPIND1	3053	ENSG00000099937	4838	https://pubmed.ncbi.nlm.nih.gov/?term=SERPIND1	None	None	657	399
SERPINE1	serpin family E member 1	Congenital plasminogen activator inhibitor type 1 deficiency?0004381	https://raresource.nih.gov/literature/gene/SERPINE1	5054	ENSG00000106366	8583	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINE1	None	None	7271	16564
SERPINF1	serpin family F member 1	Osteogenesis imperfecta type 6?0008700	https://raresource.nih.gov/literature/gene/SERPINF1	5176	ENSG00000132386	8824	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINF1	None	None	5873	3262
SERPINF2	serpin family F member 2	Alpha-2-plasmin inhibitor deficiency?0000731	https://raresource.nih.gov/literature/gene/SERPINF2	5345	ENSG00000167711	9075	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINF2	None	None	5847	2564
SERPING1	serpin family G member 1	Hereditary angioedema with C1Inh deficiency?0022194;Hereditary C1 esterase inhibitor deficiency - dysfunctional factor?0016934;C1 inhibitor deficiency?0024554;Hereditary angioedema type 1?0016933	https://raresource.nih.gov/literature/gene/SERPING1	710	ENSG00000149131	1228	https://pubmed.ncbi.nlm.nih.gov/?term=SERPING1	None	None	8674	3201
SERPINH1	serpin family H member 1	Osteogenesis imperfecta type 10?0012874	https://raresource.nih.gov/literature/gene/SERPINH1	871	ENSG00000149257	1546	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINH1	None	None	4060	1339
SERPINI1	serpin family I member 1	Familial encephalopathy with neuroserpin inclusion bodies?0010037;Progressive dementia with neuroserpin inclusion bodies?0022208	https://raresource.nih.gov/literature/gene/SERPINI1	5274	ENSG00000163536	8943	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINI1	None	None	35352	320
SET	SET nuclear proto-oncogene	Autosomal dominant non-syndromic intellectual disability?0012107;Intellectual disability, autosomal dominant 58?0016476	https://raresource.nih.gov/literature/gene/SET	6418	ENSG00000119335	10760	https://pubmed.ncbi.nlm.nih.gov/?term=SET	None	None	7705	3088
SETBP1	SET binding protein 1	Schinzel-Giedion syndrome?0000117;Intellectual disability, autosomal dominant 29?0013379	https://raresource.nih.gov/literature/gene/SETBP1	26040	ENSG00000152217	15573	https://pubmed.ncbi.nlm.nih.gov/?term=SETBP1	None	None	94899	2029
SETD1A	SET domain containing 1A, histone lysine methyltransferase	Neurodevelopmental disorder with speech impairment and dysmorphic facies?0018530	https://raresource.nih.gov/literature/gene/SETD1A	9739	ENSG00000099381	29010	https://pubmed.ncbi.nlm.nih.gov/?term=SETD1A	None	None	12560	607
SETD1B	SET domain containing 1B, histone lysine methyltransferase	Intellectual developmental disorder with seizures and language delay?0018527;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/SETD1B	23067	ENSG00000139718	29187	https://pubmed.ncbi.nlm.nih.gov/?term=SETD1B	None	None	13172	159
SETD2	SET domain containing 2, histone lysine methyltransferase	Luscan-Lumish syndrome?0013789;SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome?0022397	https://raresource.nih.gov/literature/gene/SETD2	29072	ENSG00000181555	18420	https://pubmed.ncbi.nlm.nih.gov/?term=SETD2	None	None	69645	23819
SETD5	SET domain containing 5	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency?0017673	https://raresource.nih.gov/literature/gene/SETD5	55209	ENSG00000168137	25566	https://pubmed.ncbi.nlm.nih.gov/?term=SETD5	None	None	38092	96
SETX	senataxin	Amyotrophic lateral sclerosis type 4?0010502;Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2?0012860	https://raresource.nih.gov/literature/gene/SETX	23064	ENSG00000107290	445	https://pubmed.ncbi.nlm.nih.gov/?term=SETX	None	None	42243	483
SF3B1	splicing factor 3b subunit 1	Myelodysplastic syndrome?0007132;Myelodysplastic syndrome with ring sideroblasts?0008249	https://raresource.nih.gov/literature/gene/SF3B1	23451	ENSG00000115524	10768	https://pubmed.ncbi.nlm.nih.gov/?term=SF3B1	None	None	20979	1491
SF3B2	splicing factor 3b subunit 2	Craniofacial microsomia 1?0026953	https://raresource.nih.gov/literature/gene/SF3B2	10992	ENSG00000087365	10769	https://pubmed.ncbi.nlm.nih.gov/?term=SF3B2	None	None	3790	2
SF3B4	splicing factor 3b subunit 4	Nager syndrome?0000498;Acrofacial dysostosis Rodriguez type?0000496;SF3B4-related acrofacial dysostosis?0026574	https://raresource.nih.gov/literature/gene/SF3B4	10262	ENSG00000143368	10771	https://pubmed.ncbi.nlm.nih.gov/?term=SF3B4	None	None	2892	159
SFRP4	secreted frizzled related protein 4	Pyle metaphyseal dysplasia?0004612	https://raresource.nih.gov/literature/gene/SFRP4	6424	ENSG00000106483	10778	https://pubmed.ncbi.nlm.nih.gov/?term=SFRP4	None	None	3581	962
SFTPA2	surfactant protein A2	Idiopathic Pulmonary Fibrosis?0027547	https://raresource.nih.gov/literature/gene/SFTPA2	729238	ENSG00000185303	10799	https://pubmed.ncbi.nlm.nih.gov/?term=SFTPA2	None	None	3547	3255
SFTPB	surfactant protein B	Surfactant metabolism dysfunction, pulmonary, 1?0017126	https://raresource.nih.gov/literature/gene/SFTPB	6439	ENSG00000168878	10801	https://pubmed.ncbi.nlm.nih.gov/?term=SFTPB	None	None	6805	1702
SFTPC	surfactant protein C	Surfactant metabolism dysfunction, pulmonary, 2?0025399;SFTPC-related interstitial lung disease?0017744;Chronic respiratory distress with surfactant metabolism deficiency?0017127;Idiopathic Pulmonary Fibrosis?0027547	https://raresource.nih.gov/literature/gene/SFTPC	6440	ENSG00000168484	10802	https://pubmed.ncbi.nlm.nih.gov/?term=SFTPC	None	None	2432	1829
SFXN4	sideroflexin 4	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome?0017615	https://raresource.nih.gov/literature/gene/SFXN4	119559	ENSG00000183605	16088	https://pubmed.ncbi.nlm.nih.gov/?term=SFXN4	None	None	11384	21
SGCA	sarcoglycan alpha	Autosomal recessive limb-girdle muscular dystrophy type 2D?0000438;Qualitative or quantitative defects of alpha-sarcoglycan?0020390	https://raresource.nih.gov/literature/gene/SGCA	6442	ENSG00000108823	10805	https://pubmed.ncbi.nlm.nih.gov/?term=SGCA	None	None	5120	384
SGCB	sarcoglycan beta	Qualitative or quantitative defects of beta-sarcoglycan?0020391;Autosomal recessive limb-girdle muscular dystrophy type 2E?0003851	https://raresource.nih.gov/literature/gene/SGCB	6443	ENSG00000163069	10806	https://pubmed.ncbi.nlm.nih.gov/?term=SGCB	None	None	8488	2809
SGCD	sarcoglycan delta	Dilated cardiomyopathy 1L?0015397;Autosomal recessive limb-girdle muscular dystrophy type 2F?0008573;Qualitative or quantitative defects of delta-sarcoglycan?0020393;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/SGCD	6444	ENSG00000170624	10807	https://pubmed.ncbi.nlm.nih.gov/?term=SGCD	None	None	348401	250
SGCE	sarcoglycan epsilon	Myoclonic dystonia 11?0018616;Myoclonus-dystonia syndrome?0007139	https://raresource.nih.gov/literature/gene/SGCE	8910	ENSG00000127990	10808	https://pubmed.ncbi.nlm.nih.gov/?term=SGCE	None	None	32483	357
SGCG	sarcoglycan gamma	Qualitative or quantitative defects of gamma-sarcoglycan?0020392;Autosomal recessive limb-girdle muscular dystrophy type 2C?0002429	https://raresource.nih.gov/literature/gene/SGCG	6445	ENSG00000102683	10809	https://pubmed.ncbi.nlm.nih.gov/?term=SGCG	None	None	37911	1201
SGMS2	sphingomyelin synthase 2	Calvarial doughnut lesions-bone fragility syndrome?0016739	https://raresource.nih.gov/literature/gene/SGMS2	166929	ENSG00000164023	28395	https://pubmed.ncbi.nlm.nih.gov/?term=SGMS2	None	None	29087	267
SGO1	shugoshin 1	Chronic atrial and intestinal dysrhythmia?0012281	https://raresource.nih.gov/literature/gene/SGO1	151648	ENSG00000129810	25088	https://pubmed.ncbi.nlm.nih.gov/?term=SGO1	None	None	11021	243
SGPL1	sphingosine-1-phosphate lyase 1	Nephrotic syndrome 14?0013818	https://raresource.nih.gov/literature/gene/SGPL1	8879	ENSG00000166224	10817	https://pubmed.ncbi.nlm.nih.gov/?term=SGPL1	None	None	23971	852
SGSH	N-sulfoglucosamine sulfohydrolase	Mucopolysaccharidosis, MPS-III-A?0007071	https://raresource.nih.gov/literature/gene/SGSH	6448	ENSG00000181523	10818	https://pubmed.ncbi.nlm.nih.gov/?term=SGSH	None	None	3815	233
SH2B1	SH2B adaptor protein 1	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency?0021486	https://raresource.nih.gov/literature/gene/SH2B1	25970	ENSG00000178188	30417	https://pubmed.ncbi.nlm.nih.gov/?term=SH2B1	None	None	14124	534
SH2B3	SH2B adaptor protein 3	Primary familial polycythemia due to EPO receptor mutation?0009843;Growth retardation-mild developmental delay-chronic hepatitis syndrome?0021621;Thrombocythemia 1?0024630;Primary myelofibrosis?0008618;Essential thrombocythemia?0006594	https://raresource.nih.gov/literature/gene/SH2B3	10019	ENSG00000111252	29605	https://pubmed.ncbi.nlm.nih.gov/?term=SH2B3	None	None	15772	499
SH2D1A	SH2 domain containing 1A	X-linked lymphoproliferative disease due to SH2D1A deficiency?0007906	https://raresource.nih.gov/literature/gene/SH2D1A	4068	ENSG00000183918	10820	https://pubmed.ncbi.nlm.nih.gov/?term=SH2D1A	None	None	6621	2389
SH3BP2	SH3 domain binding protein 2	Fibrous dysplasia of jaw?0006036	https://raresource.nih.gov/literature/gene/SH3BP2	6452	ENSG00000087266	10825	https://pubmed.ncbi.nlm.nih.gov/?term=SH3BP2	None	None	21449	225
SH3GL1	SH3 domain containing GRB2 like 1, endophilin A2	Acute myeloid leukemia?0012757	https://raresource.nih.gov/literature/gene/SH3GL1	6455	ENSG00000141985	10830	https://pubmed.ncbi.nlm.nih.gov/?term=SH3GL1	None	None	13480	221
SH3KBP1	SH3 domain containing kinase binding protein 1	Immunodeficiency 61?0010007	https://raresource.nih.gov/literature/gene/SH3KBP1	30011	ENSG00000147010	13867	https://pubmed.ncbi.nlm.nih.gov/?term=SH3KBP1	None	None	63448	208
SH3PXD2B	SH3 and PX domains 2B	Frank-Ter Haar syndrome?0005138	https://raresource.nih.gov/literature/gene/SH3PXD2B	285590	ENSG00000174705	29242	https://pubmed.ncbi.nlm.nih.gov/?term=SH3PXD2B	None	None	54663	75
SH3TC2	SH3 domain and tetratricopeptide repeats 2	Charcot-Marie-Tooth disease type 4C?0009201	https://raresource.nih.gov/literature/gene/SH3TC2	79628	ENSG00000169247	29427	https://pubmed.ncbi.nlm.nih.gov/?term=SH3TC2	None	None	51115	120
SHANK3	SH3 and multiple ankyrin repeat domains 3	Phelan-McDermid syndrome?0010130;Phelan-McDermid syndrome due to SHANK3 mutation?0027169	https://raresource.nih.gov/literature/gene/SHANK3	85358	ENSG00000251322	14294	https://pubmed.ncbi.nlm.nih.gov/?term=SHANK3	None	None	20675	883
SHARPIN	SHANK associated RH domain interactor	Sharpin-related autoinflammatory syndrome?0027236	https://raresource.nih.gov/literature/gene/SHARPIN	81858	ENSG00000179526	25321	https://pubmed.ncbi.nlm.nih.gov/?term=SHARPIN	None	None	3371	221
SHH	sonic hedgehog signaling molecule	Tibia, hypoplasia or aplasia of, with polydactyly?0008309;Lobar holoprosencephaly?0016830;Solitary median maxillary central incisor syndrome?0004877;Microphthalmia, isolated, with coloboma?0003644;Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome?0021953;Microphthalmia, isolated, with coloboma 5?0015524;Microform holoprosencephaly?0017290;Holoprosencephaly 3?0024572;Radial hemimelia?0000225;Polydactyly of a triphalangeal thumb?0005289;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/SHH	6469	ENSG00000164690	10848	https://pubmed.ncbi.nlm.nih.gov/?term=SHH	None	None	6868	7502
SHOC2	SHOC2 leucine rich repeat scaffold protein	Noonan syndrome-like disorder with loose anagen hair 1?0025955;Noonan syndrome-like disorder with loose anagen hair?0010719	https://raresource.nih.gov/literature/gene/SHOC2	8036	ENSG00000108061	15454	https://pubmed.ncbi.nlm.nih.gov/?term=SHOC2	None	None	35486	193
SHOX	SHOX homeobox	SHOX-related short stature?0017434;Leri-Weill dyschondrosteosis?0003224;Langer mesomelic dysplasia syndrome?0003553	https://raresource.nih.gov/literature/gene/SHOX	6473	ENSG00000292354; ENSG00000185960	10853	https://pubmed.ncbi.nlm.nih.gov/?term=SHOX	None	None	24016	329
SHPK	sedoheptulokinase	Isolated sedoheptulokinase deficiency?0018652	https://raresource.nih.gov/literature/gene/SHPK	23729	ENSG00000197417	1492	https://pubmed.ncbi.nlm.nih.gov/?term=SHPK	None	None	8539	124
SHQ1	SHQ1, H/ACA ribonucleoprotein assembly factor	Dystonia 35, childhood-onset?0025668	https://raresource.nih.gov/literature/gene/SHQ1	55164	ENSG00000144736	25543	https://pubmed.ncbi.nlm.nih.gov/?term=SHQ1	None	None	35898	43
SHROOM3	shroom family member 3	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/SHROOM3	57619	ENSG00000138771	30422	https://pubmed.ncbi.nlm.nih.gov/?term=SHROOM3	None	None	112077	318
SHROOM4	shroom family member 4	X-linked intellectual disability, Stocco dos Santos type?0001133	https://raresource.nih.gov/literature/gene/SHROOM4	57477	ENSG00000158352	29215	https://pubmed.ncbi.nlm.nih.gov/?term=SHROOM4	None	None	35790	44
SI	sucrase-isomaltase	Sucrase-isomaltase deficiency?0006183	https://raresource.nih.gov/literature/gene/SI	6476	ENSG00000090402	10856	https://pubmed.ncbi.nlm.nih.gov/?term=SI	None	None	44916	7675
SIAH1	siah E3 ubiquitin protein ligase 1	Buratti-Harel syndrome?0018546	https://raresource.nih.gov/literature/gene/SIAH1	6477	ENSG00000196470	10857	https://pubmed.ncbi.nlm.nih.gov/?term=SIAH1	None	None	30356	280
SIGMAR1	sigma non-opioid intracellular receptor 1	Autosomal recessive distal spinal muscular atrophy 2?0010133;Amyotrophic lateral sclerosis type 16?0015794;Juvenile amyotrophic lateral sclerosis?0011901	https://raresource.nih.gov/literature/gene/SIGMAR1	10280	ENSG00000147955	8157	https://pubmed.ncbi.nlm.nih.gov/?term=SIGMAR1	None	None	2816	992
SIK1	salt inducible kinase 1	Developmental and epileptic encephalopathy, 30?0016093	https://raresource.nih.gov/literature/gene/SIK1	150094	ENSG00000142178	11142	https://pubmed.ncbi.nlm.nih.gov/?term=SIK1	None	None	3505	516
SIK3	SIK family kinase 3	Spondyloepimetaphyseal dysplasia, Krakow type?0025705	https://raresource.nih.gov/literature/gene/SIK3	23387	ENSG00000160584	29165	https://pubmed.ncbi.nlm.nih.gov/?term=SIK3	None	None	12028	294
SIL1	SIL1 nucleotide exchange factor	Marinesco-Sjögren syndrome?0008341	https://raresource.nih.gov/literature/gene/SIL1	64374	ENSG00000120725	24624	https://pubmed.ncbi.nlm.nih.gov/?term=SIL1	None	None	118890	1401
SIM1	SIM bHLH transcription factor 1	SIM1-related Prader-Willi-like syndrome?0021642;Obesity due to SIM1 deficiency?0021580	https://raresource.nih.gov/literature/gene/SIM1	6492	ENSG00000112246	10882	https://pubmed.ncbi.nlm.nih.gov/?term=SIM1	None	None	32051	261
SIN3A	SIN3 transcription regulator family member A	Chromosome 15q24 deletion syndrome?0012219;SIN3A-related intellectual disability syndrome?0022043;SIN3A-related intellectual disability syndrome due to a point mutation?0017925	https://raresource.nih.gov/literature/gene/SIN3A	25942	ENSG00000169375	19353	https://pubmed.ncbi.nlm.nih.gov/?term=SIN3A	None	None	24439	493
SIPA1L3	signal induced proliferation associated 1 like 3	Congenital total cataract?0001159;Cataract 45?0025016	https://raresource.nih.gov/literature/gene/SIPA1L3	23094	ENSG00000105738	23801	https://pubmed.ncbi.nlm.nih.gov/?term=SIPA1L3	None	None	81910	22
SIX1	SIX homeobox 1	Branchiootorenal syndrome 1?0024535;Autosomal dominant nonsyndromic hearing loss 23?0001708;Branchiootic syndrome 3?0015430;Autosomal dominant nonsyndromic hearing loss?0016791;Melnick-Fraser syndrome?0010147;Branchiootic syndrome?0010148	https://raresource.nih.gov/literature/gene/SIX1	6495	ENSG00000126778	10887	https://pubmed.ncbi.nlm.nih.gov/?term=SIX1	None	None	5628	848
SIX3	SIX homeobox 3	Lobar holoprosencephaly?0016830;Holoprosencephaly 2?0024593;Schizencephaly?0000166;Microform holoprosencephaly?0017290;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/SIX3	6496	ENSG00000138083	10889	https://pubmed.ncbi.nlm.nih.gov/?term=SIX3	None	None	3705	455
SIX5	SIX homeobox 5	Melnick-Fraser syndrome?0010147;Branchiootorenal syndrome 2?0015503	https://raresource.nih.gov/literature/gene/SIX5	147912	ENSG00000177045	10891	https://pubmed.ncbi.nlm.nih.gov/?term=SIX5	None	None	2456	136
SIX6	SIX homeobox 6	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome?0017719	https://raresource.nih.gov/literature/gene/SIX6	4990	ENSG00000184302	10892	https://pubmed.ncbi.nlm.nih.gov/?term=SIX6	None	None	2121	240
SKI	SKI proto-oncogene	Ehlers-Danlos syndrome, type 4?0002082;Shprintzen-Goldberg syndrome?0004861	https://raresource.nih.gov/literature/gene/SKI	6497	ENSG00000157933	10896	https://pubmed.ncbi.nlm.nih.gov/?term=SKI	None	None	41583	937
SKIC2	SKI2 subunit of superkiller complex	Trichohepatoenteric syndrome 2?0015819;Trichohepatoenteric syndrome?0005258	https://raresource.nih.gov/literature/gene/SKIC2	6499	ENSG00000204351	10898	https://pubmed.ncbi.nlm.nih.gov/?term=SKIC2	None	None	None	254
SKIC3	SKI3 subunit of superkiller complex	Trichohepatoenteric syndrome 1?0025422;Trichohepatoenteric syndrome?0005258	https://raresource.nih.gov/literature/gene/SKIC3	9652	ENSG00000198677	23639	https://pubmed.ncbi.nlm.nih.gov/?term=SKIC3	None	None	None	83
SLC10A1	solute carrier family 10 member 1	Hypercholanemia, familial, 2?0018341	https://raresource.nih.gov/literature/gene/SLC10A1	6554	ENSG00000100652	10905	https://pubmed.ncbi.nlm.nih.gov/?term=SLC10A1	None	None	9725	1194
SLC10A7	solute carrier family 10 member 7	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis?0025723	https://raresource.nih.gov/literature/gene/SLC10A7	84068	ENSG00000120519	23088	https://pubmed.ncbi.nlm.nih.gov/?term=SLC10A7	None	None	85371	529
SLC11A2	solute carrier family 11 member 2	Microcytic anemia with liver iron overload?0012360	https://raresource.nih.gov/literature/gene/SLC11A2	4891	ENSG00000110911	10908	https://pubmed.ncbi.nlm.nih.gov/?term=SLC11A2	None	None	13730	1419
SLC12A1	solute carrier family 12 member 1	Bartter disease type 1?0022482	https://raresource.nih.gov/literature/gene/SLC12A1	6557	ENSG00000074803	10910	https://pubmed.ncbi.nlm.nih.gov/?term=SLC12A1	None	None	30548	1482
SLC12A2	solute carrier family 12 member 2	Kilquist syndrome?0027524;Delpire-McNeill syndrome?0018533;Hearing loss, autosomal dominant 78?0018156	https://raresource.nih.gov/literature/gene/SLC12A2	6558	ENSG00000064651	10911	https://pubmed.ncbi.nlm.nih.gov/?term=SLC12A2	None	None	41843	1509
SLC12A3	solute carrier family 12 member 3	Familial hypokalemia-hypomagnesemia?0008547	https://raresource.nih.gov/literature/gene/SLC12A3	6559	ENSG00000070915	10912	https://pubmed.ncbi.nlm.nih.gov/?term=SLC12A3	None	None	15818	1279
SLC12A5	solute carrier family 12 member 5	Developmental and epileptic encephalopathy, 34?0016147;Malignant migrating partial seizures of infancy?0012919	https://raresource.nih.gov/literature/gene/SLC12A5	57468	ENSG00000124140	13818	https://pubmed.ncbi.nlm.nih.gov/?term=SLC12A5	None	None	10973	1163
SLC12A6	solute carrier family 12 member 6	Charcot-Marie-Tooth disease, axonal, IIa 2II?0025691;Agenesis of the corpus callosum with peripheral neuropathy?0001537	https://raresource.nih.gov/literature/gene/SLC12A6	9990	ENSG00000140199	10914	https://pubmed.ncbi.nlm.nih.gov/?term=SLC12A6	None	None	29529	170
SLC13A3	solute carrier family 13 member 3	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate?0018035	https://raresource.nih.gov/literature/gene/SLC13A3	64849	ENSG00000158296	14430	https://pubmed.ncbi.nlm.nih.gov/?term=SLC13A3	None	None	26325	102
SLC13A5	solute carrier family 13 member 5	Developmental and epileptic encephalopathy, 25?0012901;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/SLC13A5	284111	ENSG00000141485	23089	https://pubmed.ncbi.nlm.nih.gov/?term=SLC13A5	None	None	8766	201
SLC16A1	solute carrier family 16 member 1	Ketoacidosis due to monocarboxylate transporter-1 deficiency?0017733;Exercise-induced hyperinsulinism?0009932;Metabolic myopathy due to lactate transporter defect?0017067	https://raresource.nih.gov/literature/gene/SLC16A1	6566	ENSG00000155380	10922	https://pubmed.ncbi.nlm.nih.gov/?term=SLC16A1	None	None	18117	2285
SLC16A12	solute carrier family 16 member 12	Juvenile cataract-microcornea-renal glucosuria syndrome?0017196	https://raresource.nih.gov/literature/gene/SLC16A12	387700	ENSG00000152779	23094	https://pubmed.ncbi.nlm.nih.gov/?term=SLC16A12	None	None	38059	67
SLC16A2	solute carrier family 16 member 2	Allan-Herndon-Dudley syndrome?0005617	https://raresource.nih.gov/literature/gene/SLC16A2	6567	ENSG00000147100	10923	https://pubmed.ncbi.nlm.nih.gov/?term=SLC16A2	None	None	19870	619
SLC17A5	solute carrier family 17 member 5	Sialic acid storage disease, severe infantile type?0000175;Intermediate severe Salla disease?0010871;Salla disease?0004754	https://raresource.nih.gov/literature/gene/SLC17A5	26503	ENSG00000119899	10933	https://pubmed.ncbi.nlm.nih.gov/?term=SLC17A5	None	None	26679	18218
SLC17A8	solute carrier family 17 member 8	Autosomal dominant nonsyndromic hearing loss 25?0018112;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/SLC17A8	246213	ENSG00000179520	20151	https://pubmed.ncbi.nlm.nih.gov/?term=SLC17A8	None	None	16470	353
SLC17A9	solute carrier family 17 member 9	Disseminated superficial actinic porokeratosis?0010983;Porokeratosis 8, disseminated superficial actinic type?0016056	https://raresource.nih.gov/literature/gene/SLC17A9	63910	ENSG00000101194	16192	https://pubmed.ncbi.nlm.nih.gov/?term=SLC17A9	None	None	6035	133
SLC18A2	solute carrier family 18 member A2	Brain dopamine-serotonin vesicular transport disease?0013594	https://raresource.nih.gov/literature/gene/SLC18A2	6571	ENSG00000165646	10935	https://pubmed.ncbi.nlm.nih.gov/?term=SLC18A2	None	None	12576	129
SLC18A3	solute carrier family 18 member A3	Congenital myasthenic syndrome 21?0016212	https://raresource.nih.gov/literature/gene/SLC18A3	6572	ENSG00000187714	10936	https://pubmed.ncbi.nlm.nih.gov/?term=SLC18A3	None	None	1218	1118
SLC19A1	solute carrier family 19 member 1	Immunodeficiency 114, folate-responsive?0027152;Megaloblastic anemia, folate-responsive?0027127	https://raresource.nih.gov/literature/gene/SLC19A1	6573	ENSG00000173638	10937	https://pubmed.ncbi.nlm.nih.gov/?term=SLC19A1	None	None	21116	1573
SLC19A2	solute carrier family 19 member 2	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness?0009210	https://raresource.nih.gov/literature/gene/SLC19A2	10560	ENSG00000117479	10938	https://pubmed.ncbi.nlm.nih.gov/?term=SLC19A2	None	None	8606	667
SLC19A3	solute carrier family 19 member 3	Biotin-responsive basal ganglia disease?0010237;Infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome?0020899	https://raresource.nih.gov/literature/gene/SLC19A3	80704	ENSG00000135917	16266	https://pubmed.ncbi.nlm.nih.gov/?term=SLC19A3	None	None	15717	205
SLC1A1	solute carrier family 1 member 1	Hot water reflex epilepsy?0017028;Dicarboxylic aminoaciduria?0001855	https://raresource.nih.gov/literature/gene/SLC1A1	6505	ENSG00000106688	10939	https://pubmed.ncbi.nlm.nih.gov/?term=SLC1A1	None	None	43471	1002
SLC1A2	solute carrier family 1 member 2	Developmental and epileptic encephalopathy, 41?0016190;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/SLC1A2	6506	ENSG00000110436	10940	https://pubmed.ncbi.nlm.nih.gov/?term=SLC1A2	None	None	58964	1153
SLC1A3	solute carrier family 1 member 3	Episodic ataxia type 6?0017107	https://raresource.nih.gov/literature/gene/SLC1A3	6507	ENSG00000079215	10941	https://pubmed.ncbi.nlm.nih.gov/?term=SLC1A3	None	None	31203	1628
SLC1A4	solute carrier family 1 member 4	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome?0013425	https://raresource.nih.gov/literature/gene/SLC1A4	6509	ENSG00000115902	10942	https://pubmed.ncbi.nlm.nih.gov/?term=SLC1A4	None	None	14691	191
SLC20A2	solute carrier family 20 member 2	Bilateral striopallidodentate calcinosis?0006406;Idiopathic basal ganglia calcification 1?0025419	https://raresource.nih.gov/literature/gene/SLC20A2	6575	ENSG00000168575	10947	https://pubmed.ncbi.nlm.nih.gov/?term=SLC20A2	None	None	48985	547
SLC22A12	solute carrier family 22 member 12	Dalmatian hypouricemia?0025226;Familial renal hypouricemia?0009496	https://raresource.nih.gov/literature/gene/SLC22A12	116085	ENSG00000197891	17989	https://pubmed.ncbi.nlm.nih.gov/?term=SLC22A12	None	None	9392	847
SLC22A5	solute carrier family 22 member 5	Renal carnitine transport defect?0005104	https://raresource.nih.gov/literature/gene/SLC22A5	6584	ENSG00000197375	10969	https://pubmed.ncbi.nlm.nih.gov/?term=SLC22A5	None	None	10815	713
SLC24A1	solute carrier family 24 member 1	Congenital stationary night blindness?0025068;Congenital stationary night blindness 1D?0015721	https://raresource.nih.gov/literature/gene/SLC24A1	9187	ENSG00000074621	10975	https://pubmed.ncbi.nlm.nih.gov/?term=SLC24A1	None	None	10900	126
SLC24A4	solute carrier family 24 member 4	Amelogenesis imperfecta, hypocalcification type?0016931;Amelogenesis imperfecta type 2?0008349;Amelogenesis imperfecta hypomaturation type 2A5?0016028	https://raresource.nih.gov/literature/gene/SLC24A4	123041	ENSG00000140090	10978	https://pubmed.ncbi.nlm.nih.gov/?term=SLC24A4	None	None	42432	157
SLC24A5	solute carrier family 24 member 5	Oculocutaneous albinism type 6?0017599	https://raresource.nih.gov/literature/gene/SLC24A5	283652	ENSG00000188467	20611	https://pubmed.ncbi.nlm.nih.gov/?term=SLC24A5	None	None	5954	170
SLC25A1	solute carrier family 25 member 1	D,L-2-hydroxyglutaric aciduria?0017540;Myasthenic syndrome, congenital, 23, presynaptic?0016308	https://raresource.nih.gov/literature/gene/SLC25A1	6576	ENSG00000100075	10979	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A1	None	None	2127	3104
SLC25A10	solute carrier family 25 member 10	Mitochondrial DNA depletion syndrome 19?0018370	https://raresource.nih.gov/literature/gene/SLC25A10	1468	ENSG00000183048	10980	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A10	None	None	512	167
SLC25A12	solute carrier family 25 member 12	Developmental and epileptic encephalopathy, 39?0017532	https://raresource.nih.gov/literature/gene/SLC25A12	8604	ENSG00000115840	10982	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A12	None	None	57687	220
SLC25A13	solute carrier family 25 member 13	Citrullinemia, type II, adult-onset?0024789;Neonatal intrahepatic cholestasis due to citrin deficiency?0010214;Citrullinemia type II?0010215	https://raresource.nih.gov/literature/gene/SLC25A13	10165	ENSG00000004864	10983	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A13	None	None	72966	418
SLC25A15	solute carrier family 25 member 15	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome?0002830	https://raresource.nih.gov/literature/gene/SLC25A15	10166	ENSG00000102743	10985	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A15	None	None	7580	402
SLC25A19	solute carrier family 25 member 19	Progressive demyelinating neuropathy with bilateral striatal necrosis?0017123;Amish lethal microcephaly?0008606	https://raresource.nih.gov/literature/gene/SLC25A19	60386	ENSG00000125454	14409	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A19	None	None	6216	387
SLC25A20	solute carrier family 25 member 20	Carnitine acylcarnitine translocase deficiency?0001123	https://raresource.nih.gov/literature/gene/SLC25A20	788	ENSG00000178537	1421	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A20	None	None	18890	317
SLC25A21	solute carrier family 25 member 21	Mitochondrial DNA depletion syndrome 18?0025777	https://raresource.nih.gov/literature/gene/SLC25A21	89874	ENSG00000183032	14411	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A21	None	None	112925	4056
SLC25A22	solute carrier family 25 member 22	Developmental and epileptic encephalopathy, 3?0015456;Malignant migrating partial seizures of infancy?0012919	https://raresource.nih.gov/literature/gene/SLC25A22	79751	ENSG00000177542	19954	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A22	None	None	3721	284
SLC25A24	solute carrier family 25 member 24	Fontaine progeroid syndrome?0004497	https://raresource.nih.gov/literature/gene/SLC25A24	29957	ENSG00000085491	20662	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A24	None	None	25791	117
SLC25A26	solute carrier family 25 member 26	Combined oxidative phosphorylation deficiency 28?0017831	https://raresource.nih.gov/literature/gene/SLC25A26	115286	ENSG00000144741	20661	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A26	None	None	101066	25
SLC25A3	solute carrier family 25 member 3	Cardiomyopathy-hypotonia-lactic acidosis syndrome?0016795	https://raresource.nih.gov/literature/gene/SLC25A3	5250	ENSG00000075415	10989	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A3	None	None	5356	1710
SLC25A32	solute carrier family 25 member 32	Multiple acyl-CoA dehydrogenase deficiency, mild type?0017627	https://raresource.nih.gov/literature/gene/SLC25A32	81034	ENSG00000164933	29683	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A32	None	None	6637	132
SLC25A36	solute carrier family 25 member 36	Hyperinsulinemic hypoglycemia, familial, 8?0026716	https://raresource.nih.gov/literature/gene/SLC25A36	55186	ENSG00000114120	25554	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A36	None	None	15305	16
SLC25A38	solute carrier family 25 member 38	Sideroblastic anemia 2?0018381;Autosomal recessive sideroblastic anemia?0017240	https://raresource.nih.gov/literature/gene/SLC25A38	54977	ENSG00000144659	26054	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A38	None	None	6345	69
SLC25A4	solute carrier family 25 member 4	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2?0016498;Autosomal dominant progressive external ophthalmoplegia?0016486;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive?0015961;Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant?0025039	https://raresource.nih.gov/literature/gene/SLC25A4	291	ENSG00000151729	10990	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A4	None	None	4140	2297
SLC25A46	solute carrier family 25 member 46	Pontocerebellar hypoplasia, type 1E?0016441;Congenital pontocerebellar hypoplasia type 1?0010704;Hereditary motor and sensory neuropathy with optic atrophy?0016787;Neuropathy, hereditary motor and sensory, type 6B?0018092	https://raresource.nih.gov/literature/gene/SLC25A46	91137	ENSG00000164209	25198	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A46	None	None	11424	57
SLC26A2	solute carrier family 26 member 2	Atelosteogenesis type II?0008329;Achondrogenesis, type IB?0000460;Diastrophic dysplasia?0006275;Multiple epiphyseal dysplasia type 4?0009793	https://raresource.nih.gov/literature/gene/SLC26A2	1836	ENSG00000155850	10994	https://pubmed.ncbi.nlm.nih.gov/?term=SLC26A2	None	None	10902	420
SLC26A3	solute carrier family 26 member 3	Congenital secretory diarrhea, chloride type?0010001	https://raresource.nih.gov/literature/gene/SLC26A3	1811	ENSG00000091138	3018	https://pubmed.ncbi.nlm.nih.gov/?term=SLC26A3	None	None	17211	720
SLC26A4	solute carrier family 26 member 4	Hearing loss, autosomal recessive?0018117;Thyroid hypoplasia?0008426;Pendred syndrome?0004271;Autosomal recessive nonsyndromic hearing loss 4?0022584;Thyroid agenesis?0016842	https://raresource.nih.gov/literature/gene/SLC26A4	5172	ENSG00000091137	8818	https://pubmed.ncbi.nlm.nih.gov/?term=SLC26A4	None	None	24301	1934
SLC26A5	solute carrier family 26 member 5	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 61?0022639	https://raresource.nih.gov/literature/gene/SLC26A5	375611	ENSG00000170615	9359	https://pubmed.ncbi.nlm.nih.gov/?term=SLC26A5	None	None	34456	684
SLC26A8	solute carrier family 26 member 8	Spermatogenic failure 3?0018399	https://raresource.nih.gov/literature/gene/SLC26A8	116369	ENSG00000112053	14468	https://pubmed.ncbi.nlm.nih.gov/?term=SLC26A8	None	None	32510	202
SLC27A4	solute carrier family 27 member 4	Ichthyosis prematurity syndrome?0009886	https://raresource.nih.gov/literature/gene/SLC27A4	10999	ENSG00000167114	10998	https://pubmed.ncbi.nlm.nih.gov/?term=SLC27A4	None	None	10491	415
SLC28A1	solute carrier family 28 member 1	Uridine-cytidineuria?0025739	https://raresource.nih.gov/literature/gene/SLC28A1	9154	ENSG00000156222	11001	https://pubmed.ncbi.nlm.nih.gov/?term=SLC28A1	None	None	21112	236
SLC29A3	solute carrier family 29 member 3	Dysosteosclerosis?0002012;H syndrome?0010239	https://raresource.nih.gov/literature/gene/SLC29A3	55315	ENSG00000198246	23096	https://pubmed.ncbi.nlm.nih.gov/?term=SLC29A3	None	None	23556	185
SLC2A1	solute carrier family 2 member 1	Hereditary cryohydrocytosis with reduced stomatin?0017036;Epilepsy with myoclonic absences?0019087;Childhood onset GLUT1 deficiency syndrome 2?0010541;Encephalopathy due to GLUT1 deficiency?0009265;Dystonia 9?0016656;Alternating hemiplegia of childhood?0000011	https://raresource.nih.gov/literature/gene/SLC2A1	6513	ENSG00000117394	11005	https://pubmed.ncbi.nlm.nih.gov/?term=SLC2A1	None	None	14701	10892
SLC2A10	solute carrier family 2 member 10	Ehlers-Danlos syndrome, type 4?0002082;Arterial tortuosity syndrome?0000774	https://raresource.nih.gov/literature/gene/SLC2A10	81031	ENSG00000197496	13444	https://pubmed.ncbi.nlm.nih.gov/?term=SLC2A10	None	None	8653	229
SLC2A2	solute carrier family 2 member 2	Fanconi-Bickel syndrome?0002268	https://raresource.nih.gov/literature/gene/SLC2A2	6514	ENSG00000163581	11006	https://pubmed.ncbi.nlm.nih.gov/?term=SLC2A2	None	None	12281	2218
SLC2A9	solute carrier family 2 member 9	Hypouricemia, renal, 2?0015541;Familial renal hypouricemia?0009496	https://raresource.nih.gov/literature/gene/SLC2A9	56606	ENSG00000109667	13446	https://pubmed.ncbi.nlm.nih.gov/?term=SLC2A9	None	None	109743	719
SLC30A10	solute carrier family 30 member 10	Hypermanganesemia with dystonia, polycythemia, and cirrhosis?0010706	https://raresource.nih.gov/literature/gene/SLC30A10	55532	ENSG00000196660	25355	https://pubmed.ncbi.nlm.nih.gov/?term=SLC30A10	None	None	105173	688
SLC30A7	solute carrier family 30 member 7	Ziegler-Huang syndrome?0026870	https://raresource.nih.gov/literature/gene/SLC30A7	148867	ENSG00000162695	19306	https://pubmed.ncbi.nlm.nih.gov/?term=SLC30A7	None	None	13680	116
SLC30A9	solute carrier family 30 member 9	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome?0017943	https://raresource.nih.gov/literature/gene/SLC30A9	10463	ENSG00000014824	1329	https://pubmed.ncbi.nlm.nih.gov/?term=SLC30A9	None	None	37496	78
SLC31A1	solute carrier family 31 member 1	Neurodegeneration and seizures due to copper transport defect?0027312	https://raresource.nih.gov/literature/gene/SLC31A1	1317	ENSG00000136868	11016	https://pubmed.ncbi.nlm.nih.gov/?term=SLC31A1	None	None	15058	954
SLC32A1	solute carrier family 32 member 1	Developmental and epileptic encephalopathy 114?0027011;Generalized epilepsy with febrile seizures plus, type 12?0027006	https://raresource.nih.gov/literature/gene/SLC32A1	140679	ENSG00000101438	11018	https://pubmed.ncbi.nlm.nih.gov/?term=SLC32A1	None	None	3108	855
SLC33A1	solute carrier family 33 member 1	Huppke-Brendel syndrome?0017365;Hereditary spastic paraplegia 42?0017073	https://raresource.nih.gov/literature/gene/SLC33A1	9197	ENSG00000169359	95	https://pubmed.ncbi.nlm.nih.gov/?term=SLC33A1	None	None	15865	3067
SLC34A1	solute carrier family 34 member 1	Primary Fanconi syndrome?0009118;Hypercalcemia, infantile, 2?0018435;Autosomal recessive infantile hypercalcemia?0017374;Hypophosphatemic nephrolithiasis/osteoporosis 1?0018346;Fanconi renotubular syndrome 2?0015655	https://raresource.nih.gov/literature/gene/SLC34A1	6569	ENSG00000131183	11019	https://pubmed.ncbi.nlm.nih.gov/?term=SLC34A1	None	None	7147	326
SLC34A2	solute carrier family 34 member 2	PULMONARY ALVEOLAR MICROLITHIASIS?0011894	https://raresource.nih.gov/literature/gene/SLC34A2	10568	ENSG00000157765	11020	https://pubmed.ncbi.nlm.nih.gov/?term=SLC34A2	None	None	14175	386
SLC34A3	solute carrier family 34 member 3	Autosomal recessive hypophosphatemic bone disease?0016977	https://raresource.nih.gov/literature/gene/SLC34A3	142680	ENSG00000198569	20305	https://pubmed.ncbi.nlm.nih.gov/?term=SLC34A3	None	None	4787	199
SLC35A1	solute carrier family 35 member A1	SLC35A1-congenital disorder of glycosylation?0012409	https://raresource.nih.gov/literature/gene/SLC35A1	10559	ENSG00000164414	11021	https://pubmed.ncbi.nlm.nih.gov/?term=SLC35A1	None	None	15531	614
SLC35A2	solute carrier family 35 member A2	SLC35A2-congenital disorder of glycosylation?0012403;Isolated focal cortical dysplasia type Ia?0020984	https://raresource.nih.gov/literature/gene/SLC35A2	7355	ENSG00000102100	11022	https://pubmed.ncbi.nlm.nih.gov/?term=SLC35A2	None	None	2163	2536
SLC35A3	solute carrier family 35 member A3	Autism spectrum disorder - epilepsy - arthrogryposis syndrome?0017604	https://raresource.nih.gov/literature/gene/SLC35A3	23443	ENSG00000117620	11023	https://pubmed.ncbi.nlm.nih.gov/?term=SLC35A3	None	None	341	61
SLC35B2	solute carrier family 35 member B2	Leukodystrophy, hypomyelinating, 26, with chondrodysplasia?0026733	https://raresource.nih.gov/literature/gene/SLC35B2	347734	ENSG00000157593	16872	https://pubmed.ncbi.nlm.nih.gov/?term=SLC35B2	None	None	2148	59
SLC35C1	solute carrier family 35 member C1	Leukocyte adhesion deficiency type II?0004634	https://raresource.nih.gov/literature/gene/SLC35C1	55343	ENSG00000181830	20197	https://pubmed.ncbi.nlm.nih.gov/?term=SLC35C1	None	None	4423	54
SLC35D1	solute carrier family 35 member D1	Schneckenbecken dysplasia?0000169	https://raresource.nih.gov/literature/gene/SLC35D1	23169	ENSG00000116704	20800	https://pubmed.ncbi.nlm.nih.gov/?term=SLC35D1	None	None	22747	20
SLC36A2	solute carrier family 36 member 2	Iminoglycinuria?0008424	https://raresource.nih.gov/literature/gene/SLC36A2	153201	ENSG00000186335	18762	https://pubmed.ncbi.nlm.nih.gov/?term=SLC36A2	None	None	13679	72
SLC37A4	solute carrier family 37 member 4	Glycogen storage disease type 1 due to SLC37A4 mutation?0002501;Congenital disorder of glycosylation, type IIw?0025560;Glucose-6-phosphate transport defect?0002515	https://raresource.nih.gov/literature/gene/SLC37A4	2542	ENSG00000137700	4061	https://pubmed.ncbi.nlm.nih.gov/?term=SLC37A4	None	None	3274	274
SLC38A3	solute carrier family 38 member 3	Developmental and epileptic encephalopathy 102?0025649;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/SLC38A3	10991	ENSG00000188338	18044	https://pubmed.ncbi.nlm.nih.gov/?term=SLC38A3	None	None	7042	1090
SLC38A8	solute carrier family 38 member 8	Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome?0017632	https://raresource.nih.gov/literature/gene/SLC38A8	146167	ENSG00000166558	32434	https://pubmed.ncbi.nlm.nih.gov/?term=SLC38A8	None	None	18453	28
SLC39A13	solute carrier family 39 member 13	Ehlers-Danlos syndrome, spondylocheirodysplastic type?0012610	https://raresource.nih.gov/literature/gene/SLC39A13	91252	ENSG00000165915	20859	https://pubmed.ncbi.nlm.nih.gov/?term=SLC39A13	None	None	4137	80
SLC39A14	solute carrier family 39 member 14	Hyperostosis cranialis interna?0017753;Hypermanganesemia with dystonia 2?0017958	https://raresource.nih.gov/literature/gene/SLC39A14	23516	ENSG00000104635	20858	https://pubmed.ncbi.nlm.nih.gov/?term=SLC39A14	None	None	28668	375
SLC39A4	solute carrier family 39 member 4	Hereditary acrodermatitis enteropathica?0005723	https://raresource.nih.gov/literature/gene/SLC39A4	55630	ENSG00000147804	17129	https://pubmed.ncbi.nlm.nih.gov/?term=SLC39A4	None	None	4002	344
SLC39A7	solute carrier family 39 member 7	Agammaglobulinemia 9, autosomal recessive?0025591	https://raresource.nih.gov/literature/gene/SLC39A7	7922	ENSG00000112473	4927	https://pubmed.ncbi.nlm.nih.gov/?term=SLC39A7	None	None	1440	158
SLC39A8	solute carrier family 39 member 8	SLC39A8-CDG?0017846	https://raresource.nih.gov/literature/gene/SLC39A8	64116	ENSG00000138821	20862	https://pubmed.ncbi.nlm.nih.gov/?term=SLC39A8	None	None	58829	681
SLC3A1	solute carrier family 3 member 1	Cystinuria?0006237;Cystinuria type A?0016827	https://raresource.nih.gov/literature/gene/SLC3A1	6519	ENSG00000138079	11025	https://pubmed.ncbi.nlm.nih.gov/?term=SLC3A1	None	None	24232	579
SLC40A1	solute carrier family 40 member 1	Hemochromatosis type 4?0010094	https://raresource.nih.gov/literature/gene/SLC40A1	30061	ENSG00000138449	10909	https://pubmed.ncbi.nlm.nih.gov/?term=SLC40A1	None	None	8562	1399
SLC41A1	solute carrier family 41 member 1	Nephronophthisis-like nephropathy 2?0026664	https://raresource.nih.gov/literature/gene/SLC41A1	254428	ENSG00000133065	19429	https://pubmed.ncbi.nlm.nih.gov/?term=SLC41A1	None	None	5335	141
SLC44A1	solute carrier family 44 member 1	Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline?0027266	https://raresource.nih.gov/literature/gene/SLC44A1	23446	ENSG00000070214	18798	https://pubmed.ncbi.nlm.nih.gov/?term=SLC44A1	None	None	66103	150
SLC44A4	solute carrier family 44 member 4	Hearing loss, autosomal dominant 72?0018148;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/SLC44A4	80736	ENSG00000204385	13941	https://pubmed.ncbi.nlm.nih.gov/?term=SLC44A4	None	None	6052	89
SLC45A1	solute carrier family 45 member 1	Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/SLC45A1	50651	ENSG00000162426	17939	https://pubmed.ncbi.nlm.nih.gov/?term=SLC45A1	None	None	13259	21
SLC45A2	solute carrier family 45 member 2	Oculocutaneous albinism type 4?0016722	https://raresource.nih.gov/literature/gene/SLC45A2	51151	ENSG00000164175	16472	https://pubmed.ncbi.nlm.nih.gov/?term=SLC45A2	None	None	16253	604
SLC46A1	solute carrier family 46 member 1	Congenital defect of folate absorption?0012983	https://raresource.nih.gov/literature/gene/SLC46A1	113235	ENSG00000076351	30521	https://pubmed.ncbi.nlm.nih.gov/?term=SLC46A1	None	None	2273	479
SLC4A1	solute carrier family 4 member 1 (Diego blood group)	Autosomal dominant distal renal tubular acidosis?0004668;Renal tubular acidosis, distal, 4, with hemolytic anemia?0012354;Cryohydrocytosis?0010184;Hereditary spherocytosis type 4?0015576;Xerocytosis?0005623;Southeast Asian ovalocytosis?0016867;Malaria?0006961;Hereditary spherocytosis?0006639	https://raresource.nih.gov/literature/gene/SLC4A1	6521	ENSG00000004939	11027	https://pubmed.ncbi.nlm.nih.gov/?term=SLC4A1	None	None	7948	151
SLC4A10	solute carrier family 4 member 10	Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities?0027153	https://raresource.nih.gov/literature/gene/SLC4A10	57282	ENSG00000144290	13811	https://pubmed.ncbi.nlm.nih.gov/?term=SLC4A10	None	None	187470	95
SLC4A11	solute carrier family 4 member 11	Fuchs' endothelial dystrophy?0010018;Congenital hereditary endothelial dystrophy of cornea?0006196;Corneal dystrophy, Fuchs endothelial, 4?0018219;Corneal dystrophy-perceptive deafness syndrome?0001529	https://raresource.nih.gov/literature/gene/SLC4A11	83959	ENSG00000088836	16438	https://pubmed.ncbi.nlm.nih.gov/?term=SLC4A11	None	None	5694	247
SLC4A2	solute carrier family 4 member 2	Osteopetrosis, autosomal recessive 9?0026801	https://raresource.nih.gov/literature/gene/SLC4A2	6522	ENSG00000164889	11028	https://pubmed.ncbi.nlm.nih.gov/?term=SLC4A2	None	None	5563	581
SLC4A3	solute carrier family 4 member 3	Short QT syndrome?0016650;Short QT syndrome 7?0026720	https://raresource.nih.gov/literature/gene/SLC4A3	6508	ENSG00000114923	11029	https://pubmed.ncbi.nlm.nih.gov/?term=SLC4A3	None	None	8058	2099
SLC4A4	solute carrier family 4 member 4	Autosomal recessive proximal renal tubular acidosis?0016826	https://raresource.nih.gov/literature/gene/SLC4A4	8671	ENSG00000080493	11030	https://pubmed.ncbi.nlm.nih.gov/?term=SLC4A4	None	None	185331	689
SLC51A	solute carrier family 51 member A	Cholestasis, progressive familial intrahepatic, 6?0025551	https://raresource.nih.gov/literature/gene/SLC51A	200931	ENSG00000163959	29955	https://pubmed.ncbi.nlm.nih.gov/?term=SLC51A	None	None	7323	99
SLC52A1	solute carrier family 52 member 1	Maternal riboflavin deficiency?0017686	https://raresource.nih.gov/literature/gene/SLC52A1	55065	ENSG00000132517	30225	https://pubmed.ncbi.nlm.nih.gov/?term=SLC52A1	None	None	7922	1491
SLC52A2	solute carrier family 52 member 2	Brown-Vialetto-van Laere syndrome 2?0012861	https://raresource.nih.gov/literature/gene/SLC52A2	79581	ENSG00000185803	30224	https://pubmed.ncbi.nlm.nih.gov/?term=SLC52A2	None	None	2337	1750
SLC52A3	solute carrier family 52 member 3	Brown-Vialetto-van Laere syndrome 1?0018010	https://raresource.nih.gov/literature/gene/SLC52A3	113278	ENSG00000101276	16187	https://pubmed.ncbi.nlm.nih.gov/?term=SLC52A3	None	None	5679	161
SLC5A1	solute carrier family 5 member 1	Congenital glucose-galactose malabsorption?0006521	https://raresource.nih.gov/literature/gene/SLC5A1	6523	ENSG00000100170	11036	https://pubmed.ncbi.nlm.nih.gov/?term=SLC5A1	None	None	17939	585
SLC5A2	solute carrier family 5 member 2	Familial renal glucosuria?0007548	https://raresource.nih.gov/literature/gene/SLC5A2	6524	ENSG00000140675	11037	https://pubmed.ncbi.nlm.nih.gov/?term=SLC5A2	None	None	3151	12464
SLC5A5	solute carrier family 5 member 5	Familial thyroid dyshormonogenesis?0016843;Thyroid dyshormonogenesis 1?0018188	https://raresource.nih.gov/literature/gene/SLC5A5	6528	ENSG00000105641	11040	https://pubmed.ncbi.nlm.nih.gov/?term=SLC5A5	None	None	9341	770
SLC5A6	solute carrier family 5 member 6	Neurodegeneration, infantile-onset, biotin-responsive?0027272;Peripheral motor neuropathy, childhood-onset, biotin-responsive?0026682	https://raresource.nih.gov/literature/gene/SLC5A6	8884	ENSG00000138074	11041	https://pubmed.ncbi.nlm.nih.gov/?term=SLC5A6	None	None	5679	137
SLC5A7	solute carrier family 5 member 7	Distal hereditary motor neuropathy type 7?0016960;Congenital myasthenic syndrome 20?0016202;Neuronopathy, distal hereditary motor, type 7A?0018269	https://raresource.nih.gov/literature/gene/SLC5A7	60482	ENSG00000115665	14025	https://pubmed.ncbi.nlm.nih.gov/?term=SLC5A7	None	None	11555	474
SLC67A1	solute carrier family 67 member 1	Embryonal rhabdomyosarcoma?0004702;Familial cancer of breast?0017142	https://raresource.nih.gov/literature/gene/SLC67A1	5002	ENSG00000110628	10964	https://pubmed.ncbi.nlm.nih.gov/?term=SLC67A1	None	None	None	275
SLC6A1	solute carrier family 6 member 1	Autosomal dominant non-syndromic intellectual disability?0012107;Epilepsy with myoclonic atonic seizures?0016108	https://raresource.nih.gov/literature/gene/SLC6A1	6529	ENSG00000157103	11042	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A1	None	None	19886	52
SLC6A17	solute carrier family 6 member 17	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome?0017798	https://raresource.nih.gov/literature/gene/SLC6A17	388662	ENSG00000197106	31399	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A17	None	None	19906	25
SLC6A19	solute carrier family 6 member 19	Neutral 1 amino acid transport defect?0006569	https://raresource.nih.gov/literature/gene/SLC6A19	340024	ENSG00000174358	27960	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A19	None	None	11737	223
SLC6A2	solute carrier family 6 member 2	Postural orthostatic tachycardia syndrome?0013591	https://raresource.nih.gov/literature/gene/SLC6A2	6530	ENSG00000103546	11048	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A2	None	None	13153	2945
SLC6A3	solute carrier family 6 member 3	Parkinsonism-dystonia, infantile?0010484;Classic dopamine transporter deficiency syndrome?0025981;SLC6A3-related dopamine transporter deficiency syndrome?0026363	https://raresource.nih.gov/literature/gene/SLC6A3	6531	ENSG00000142319	11049	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A3	None	None	24535	6073
SLC6A5	solute carrier family 6 member 5	Hereditary hyperekplexia?0003129;Hyperekplexia 3?0015825	https://raresource.nih.gov/literature/gene/SLC6A5	9152	ENSG00000165970	11051	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A5	None	None	24778	552
SLC6A8	solute carrier family 6 member 8	Creatine transporter deficiency?0001608	https://raresource.nih.gov/literature/gene/SLC6A8	6535	ENSG00000130821	11055	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A8	None	None	3871	1718
SLC6A9	solute carrier family 6 member 9	Infantile glycine encephalopathy?0017333;Atypical glycine encephalopathy?0017334	https://raresource.nih.gov/literature/gene/SLC6A9	6536	ENSG00000196517	11056	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A9	None	None	15642	555
SLC7A14	solute carrier family 7 member 14	Retinitis pigmentosa 68?0016004	https://raresource.nih.gov/literature/gene/SLC7A14	57709	ENSG00000013293	29326	https://pubmed.ncbi.nlm.nih.gov/?term=SLC7A14	None	None	40046	24
SLC7A2-IT1	SLC7A2 intronic transcript 1	Ravine syndrome?0003231	https://raresource.nih.gov/literature/gene/SLC7A2-IT1				https://pubmed.ncbi.nlm.nih.gov/?term=SLC7A2-IT1	None	None	None	None
SLC7A6OS	solute carrier family 7 member 6 opposite strand	Epilepsy, progressive myoclonic, 12?0025665	https://raresource.nih.gov/literature/gene/SLC7A6OS	84138	ENSG00000103061	25807	https://pubmed.ncbi.nlm.nih.gov/?term=SLC7A6OS	None	None	2707	26
SLC7A7	solute carrier family 7 member 7	Lysinuric protein intolerance?0003335	https://raresource.nih.gov/literature/gene/SLC7A7	9056	ENSG00000155465	11065	https://pubmed.ncbi.nlm.nih.gov/?term=SLC7A7	None	None	16335	323
SLC7A9	solute carrier family 7 member 9	Cystinuria?0006237;Cystinuria type B?0016828	https://raresource.nih.gov/literature/gene/SLC7A9	11136	ENSG00000021488	11067	https://pubmed.ncbi.nlm.nih.gov/?term=SLC7A9	None	None	15573	367
SLC9A1	solute carrier family 9 member A1	Lichtenstein-Knorr syndrome?0017780	https://raresource.nih.gov/literature/gene/SLC9A1	6548	ENSG00000090020	11071	https://pubmed.ncbi.nlm.nih.gov/?term=SLC9A1	None	None	22263	1872
SLC9A3	solute carrier family 9 member A3	Congenital sodium diarrhea?0016945;Congenital secretory sodium diarrhea 8?0018261	https://raresource.nih.gov/literature/gene/SLC9A3	6550	ENSG00000066230	11073	https://pubmed.ncbi.nlm.nih.gov/?term=SLC9A3	None	None	27149	1632
SLC9A6	solute carrier family 9 member A6	Christianson syndrome?0010572;Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment?0027437	https://raresource.nih.gov/literature/gene/SLC9A6	10479	ENSG00000198689	11079	https://pubmed.ncbi.nlm.nih.gov/?term=SLC9A6	None	None	12656	173
SLC9A7	solute carrier family 9 member A7	Non-syndromic X-linked intellectual disability?0018640;Intellectual developmental disorder, X-linked 108?0025483	https://raresource.nih.gov/literature/gene/SLC9A7	84679	ENSG00000065923	17123	https://pubmed.ncbi.nlm.nih.gov/?term=SLC9A7	None	None	35030	125
SLCO1B1	solute carrier organic anion transporter family member 1B1	Rotor syndrome?0000218	https://raresource.nih.gov/literature/gene/SLCO1B1	10599	ENSG00000134538	10959	https://pubmed.ncbi.nlm.nih.gov/?term=SLCO1B1	None	None	40443	2228
SLCO1B3	solute carrier organic anion transporter family member 1B3	Rotor syndrome?0000218	https://raresource.nih.gov/literature/gene/SLCO1B3	28234	ENSG00000111700	10961	https://pubmed.ncbi.nlm.nih.gov/?term=SLCO1B3	None	None	2884	1025
SLCO2A1	solute carrier organic anion transporter family member 2A1	Hypertrophic osteoarthropathy, primary, autosomal recessive, 2?0015805;Chronic enteropathy associated with SLCO2A1 gene?0021946;Hypertrophic osteoarthropathy, primary, autosomal dominant?0015101	https://raresource.nih.gov/literature/gene/SLCO2A1	6578	ENSG00000174640	10955	https://pubmed.ncbi.nlm.nih.gov/?term=SLCO2A1	None	None	44807	431
SLF2	SMC5-SMC6 complex localization factor 2	Atelis syndrome 1?0026748	https://raresource.nih.gov/literature/gene/SLF2	55719	ENSG00000119906	17814	https://pubmed.ncbi.nlm.nih.gov/?term=SLF2	None	None	9640	25
SLFN14	schlafen family member 14	Platelet-type bleeding disorder 20?0018491	https://raresource.nih.gov/literature/gene/SLFN14	342618	ENSG00000236320	32689	https://pubmed.ncbi.nlm.nih.gov/?term=SLFN14	None	None	3528	30
SLITRK2	SLIT and NTRK like family member 2	Intellectual developmental disorder, X-linked 111?0026787	https://raresource.nih.gov/literature/gene/SLITRK2	84631	ENSG00000185985	13449	https://pubmed.ncbi.nlm.nih.gov/?term=SLITRK2	None	None	4385	33
SLITRK6	SLIT and NTRK like family member 6	High myopia-sensorineural deafness syndrome?0012844;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/SLITRK6	84189	ENSG00000184564	23503	https://pubmed.ncbi.nlm.nih.gov/?term=SLITRK6	None	None	5339	45
SLMAP	sarcolemma associated protein	Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/SLMAP	7871	ENSG00000163681	16643	https://pubmed.ncbi.nlm.nih.gov/?term=SLMAP	None	None	66224	159
SLURP1	secreted LY6/PLAUR domain containing 1	Acroerythrokeratoderma?0000092	https://raresource.nih.gov/literature/gene/SLURP1	57152	ENSG00000126233	18746	https://pubmed.ncbi.nlm.nih.gov/?term=SLURP1	None	None	2756	1602
SLX4	SLX4 structure-specific endonuclease subunit	Fanconi anemia?0006425;Fanconi anemia complementation group P?0015731	https://raresource.nih.gov/literature/gene/SLX4	84464	ENSG00000188827	23845	https://pubmed.ncbi.nlm.nih.gov/?term=SLX4	None	None	11764	317
SMAD2	SMAD family member 2	Familial thoracic aortic aneurysm and aortic dissection?0002249;Loeys-Dietz syndrome?0010788;Ehlers-Danlos syndrome, type 4?0002082;Loeys-Dietz syndrome 6?0025581	https://raresource.nih.gov/literature/gene/SMAD2	4087	ENSG00000175387	6768	https://pubmed.ncbi.nlm.nih.gov/?term=SMAD2	None	None	47401	9692
SMAD3	SMAD family member 3	Familial thoracic aortic aneurysm and aortic dissection?0002249;Loeys-Dietz syndrome?0010788;Ehlers-Danlos syndrome, type 4?0002082;Aneurysm-osteoarthritis syndrome?0010997	https://raresource.nih.gov/literature/gene/SMAD3	4088	ENSG00000166949	6769	https://pubmed.ncbi.nlm.nih.gov/?term=SMAD3	None	None	33613	8611
SMAD4	SMAD family member 4	Juvenile polyposis syndrome?0003065;Familial pancreatic carcinoma?0004206;Generalized juvenile polyposis/juvenile polyposis coli?0017508;Myhre syndrome?0002572;Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome?0024614;Hereditary hemorrhagic telangiectasia?0006626;Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/SMAD4	4089	ENSG00000141646	6770	https://pubmed.ncbi.nlm.nih.gov/?term=SMAD4	None	None	22130	6051
SMAD6	SMAD family member 6	Aortic valve disease 2?0018471;Tetralogy of Fallot?0002245;Familial bicuspid aortic valve?0017670	https://raresource.nih.gov/literature/gene/SMAD6	4091	ENSG00000137834	6772	https://pubmed.ncbi.nlm.nih.gov/?term=SMAD6	None	None	21160	635
SMAD9	SMAD family member 9	Pulmonary hypertension, primary, 2?0018394;Heritable pulmonary arterial hypertension?0011914	https://raresource.nih.gov/literature/gene/SMAD9	4093	ENSG00000120693	6774	https://pubmed.ncbi.nlm.nih.gov/?term=SMAD9	None	None	20780	267
SMARCA2	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2	Nicolaides-Baraitser syndrome?0000270;Blepharophimosis-impaired intellectual development syndrome?0026657	https://raresource.nih.gov/literature/gene/SMARCA2	6595	ENSG00000080503	11098	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCA2	None	None	80628	1580
SMARCA4	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4	Ovarian small cell carcinoma?0010411;Coffin-Siris syndrome?0006124;Otosclerosis 12?0027079;Tetralogy of Fallot?0002245;SMARCA4-deficient sarcoma of thorax?0021943;Intellectual disability, autosomal dominant 16?0015822;Rhabdoid tumor predisposition syndrome?0017159;Rhabdoid tumor predisposition syndrome 2?0018319	https://raresource.nih.gov/literature/gene/SMARCA4	6597	ENSG00000127616	11100	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCA4	None	None	43226	3200
SMARCAD1	SNF2 related chromatin remodeling ATPase with DExD box 1	Adermatoglyphia?0012550;Basan syndrome?0002336;Keratoderma with scleroatrophy of the extremities?0008517	https://raresource.nih.gov/literature/gene/SMARCAD1	56916	ENSG00000163104	18398	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCAD1	None	None	35398	106
SMARCAL1	SNF2 related chromatin remodeling annealing helicase 1	Schimke immuno-osseous dysplasia?0004984	https://raresource.nih.gov/literature/gene/SMARCAL1	50485	ENSG00000138375	11102	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCAL1	None	None	27520	282
SMARCB1	SWI/SNF related BAF chromatin remodeling complex subunit B1	Atypical teratoid rhabdoid tumor?0016926;Rhabdoid tumor predisposition syndrome 1?0018318;Coffin-Siris syndrome?0006124;Intellectual disability, autosomal dominant 15?0015821;Meningioma?0007015;SMARCB1-related schwannomatosis?0025408;Schwannomatosis?0004768;Rhabdoid tumor predisposition syndrome?0017159;Familial multiple meningioma?0017260	https://raresource.nih.gov/literature/gene/SMARCB1	6598	ENSG00000099956	11103	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCB1	None	None	21045	2196
SMARCC2	SWI/SNF related BAF chromatin remodeling complex subunit C2	Coffin-Siris syndrome 8?0016347;Coffin-Siris syndrome?0006124	https://raresource.nih.gov/literature/gene/SMARCC2	6601	ENSG00000139613	11105	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCC2	None	None	11395	148
SMARCD1	SWI/SNF related BAF chromatin remodeling complex subunit D1	Coffin-Siris syndrome 11?0016379;Coffin-Siris syndrome?0006124	https://raresource.nih.gov/literature/gene/SMARCD1	6602	ENSG00000066117	11106	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCD1	None	None	6686	123
SMARCD2	SWI/SNF related BAF chromatin remodeling complex subunit D2	Specific granule deficiency?0010778;Specific granule deficiency 2?0025883	https://raresource.nih.gov/literature/gene/SMARCD2	6603	ENSG00000108604	11107	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCD2	None	None	4732	46
SMARCE1	SWI/SNF related BAF chromatin remodeling complex subunit E1	Coffin-Siris syndrome?0006124;Familial meningioma?0018385;Meningioma?0007015;Coffin-Siris syndrome 5?0016170;Familial multiple meningioma?0017260	https://raresource.nih.gov/literature/gene/SMARCE1	6605	ENSG00000073584	11109	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCE1	None	None	7385	187
SMC1A	structural maintenance of chromosomes 1A	Congenital muscular hypertrophy-cerebral syndrome?0015259;Atypical Rett syndrome?0004694;Developmental and epileptic encephalopathy, 85, with or without midline brain defects?0025492;De Lange syndrome?0010109	https://raresource.nih.gov/literature/gene/SMC1A	8243	ENSG00000072501	11111	https://pubmed.ncbi.nlm.nih.gov/?term=SMC1A	None	None	10814	644
SMC3	structural maintenance of chromosomes 3	Cornelia de Lange syndrome 3?0015499;De Lange syndrome?0010109	https://raresource.nih.gov/literature/gene/SMC3	9126	ENSG00000108055	2468	https://pubmed.ncbi.nlm.nih.gov/?term=SMC3	None	None	16615	1168
SMC5	structural maintenance of chromosomes 5	Atelis syndrome 2?0026749	https://raresource.nih.gov/literature/gene/SMC5	23137	ENSG00000198887	20465	https://pubmed.ncbi.nlm.nih.gov/?term=SMC5	None	None	33514	396
SMCHD1	structural maintenance of chromosomes flexible hinge domain containing 1	Facioscapulohumeral muscular dystrophy 2?0015088;Facioscapulohumeral muscular dystrophy?0009941;Arrhinia with choanal atresia and microphthalmia syndrome?0027263	https://raresource.nih.gov/literature/gene/SMCHD1	23347	ENSG00000101596	29090	https://pubmed.ncbi.nlm.nih.gov/?term=SMCHD1	None	None	44332	211
SMG8	SMG8 nonsense mediated mRNA decay factor	Alzahrani-Kuwahara syndrome?0018544	https://raresource.nih.gov/literature/gene/SMG8	55181	ENSG00000167447	25551	https://pubmed.ncbi.nlm.nih.gov/?term=SMG8	None	None	4081	18
SMN1	survival of motor neuron 1, telomeric	Werdnig-Hoffmann disease?0007883;Spinal muscular atrophy, type IV?0000564;Spinal muscular atrophy, type II?0004945;Kugelberg-Welander disease?0000198	https://raresource.nih.gov/literature/gene/SMN1	6606	ENSG00000172062	11117	https://pubmed.ncbi.nlm.nih.gov/?term=SMN1	None	None	5760	19130
SMO	smoothened, frizzled class receptor	Curry-Jones syndrome?0005584;Meningioma?0007015;Mosaic SMO syndrome?0027231;Aganglionic megacolon?0006660;Hamartoma of hypothalamus?0002934	https://raresource.nih.gov/literature/gene/SMO	6608	ENSG00000128602	11119	https://pubmed.ncbi.nlm.nih.gov/?term=SMO	None	None	10499	22
SMOC1	SPARC related modular calcium binding 1	Microphthalmia with limb anomalies?0000722	https://raresource.nih.gov/literature/gene/SMOC1	64093	ENSG00000198732	20318	https://pubmed.ncbi.nlm.nih.gov/?term=SMOC1	None	None	39153	607
SMOC2	SPARC related modular calcium binding 2	Dentin dysplasia type I?0001807;Atypical dentin dysplasia due to SMOC2 deficiency?0017433	https://raresource.nih.gov/literature/gene/SMOC2	64094	ENSG00000112562	20323	https://pubmed.ncbi.nlm.nih.gov/?term=SMOC2	None	None	97229	203
SMPD1	sphingomyelin phosphodiesterase 1	Niemann-Pick disease, type A?0007206;Niemann-Pick disease, type B?0010729	https://raresource.nih.gov/literature/gene/SMPD1	6609	ENSG00000166311	11120	https://pubmed.ncbi.nlm.nih.gov/?term=SMPD1	None	None	3722	1812
SMPD4	sphingomyelin phosphodiesterase 4	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies?0027136	https://raresource.nih.gov/literature/gene/SMPD4	55627	ENSG00000136699	32949	https://pubmed.ncbi.nlm.nih.gov/?term=SMPD4	None	None	12949	45
SMPX	small muscle protein X-linked	Myopathy, distal, 7, adult-onset, X-linked?0025463;Hearing loss, X-linked 4?0018096;X-linked nonsyndromic hearing loss?0016790	https://raresource.nih.gov/literature/gene/SMPX	23676	ENSG00000091482	11122	https://pubmed.ncbi.nlm.nih.gov/?term=SMPX	None	None	8030	478
SMS	spermine synthase	Syndromic X-linked intellectual disability Snyder type?0005615	https://raresource.nih.gov/literature/gene/SMS	6611	ENSG00000102172	11123	https://pubmed.ncbi.nlm.nih.gov/?term=SMS	None	None	12909	1468
SNAI2	snail family transcriptional repressor 2	Waardenburg syndrome type 2?0005520	https://raresource.nih.gov/literature/gene/SNAI2	6591	ENSG00000019549	11094	https://pubmed.ncbi.nlm.nih.gov/?term=SNAI2	None	None	2975	4050
SNAP25	synaptosome associated protein 25	Congenital myasthenic syndrome 18?0016091	https://raresource.nih.gov/literature/gene/SNAP25	6616	ENSG00000132639	11132	https://pubmed.ncbi.nlm.nih.gov/?term=SNAP25	None	None	19987	3406
SNAP29	synaptosome associated protein 29	CEDNIK syndrome?0009940	https://raresource.nih.gov/literature/gene/SNAP29	9342	ENSG00000099940	11133	https://pubmed.ncbi.nlm.nih.gov/?term=SNAP29	None	None	10970	220
SNCA	synuclein alpha	Autosomal dominant Parkinson disease 1?0018474;Autosomal dominant Parkinson disease 4?0018475	https://raresource.nih.gov/literature/gene/SNCA	6622	ENSG00000145335	11138	https://pubmed.ncbi.nlm.nih.gov/?term=SNCA	None	None	51273	605
SNCAIP	synuclein alpha interacting protein	Parkinson disease, late-onset?0017684	https://raresource.nih.gov/literature/gene/SNCAIP	9627	ENSG00000064692	11139	https://pubmed.ncbi.nlm.nih.gov/?term=SNCAIP	None	None	52269	222
SNF8	SNF8 subunit of ESCRT-II	Developmental and epileptic encephalopathy 115?0027033	https://raresource.nih.gov/literature/gene/SNF8	11267	ENSG00000159210	17028	https://pubmed.ncbi.nlm.nih.gov/?term=SNF8	None	None	5641	52
SNORD115-1	small nucleolar RNA, C/D box 115-1	Prader-Willi syndrome?0005575	https://raresource.nih.gov/literature/gene/SNORD115-1	338433	ENSG00000201831	33020	https://pubmed.ncbi.nlm.nih.gov/?term=SNORD115-1	None	None	42	1
SNORD116-1	small nucleolar RNA, C/D box 116-1	Prader-Willi syndrome?0005575	https://raresource.nih.gov/literature/gene/SNORD116-1	100033413		33067	https://pubmed.ncbi.nlm.nih.gov/?term=SNORD116-1	None	None	None	10
SNORD118	small nucleolar RNA, C/D box 118	Leukoencephalopathy with calcifications and cysts?0010732	https://raresource.nih.gov/literature/gene/SNORD118	727676	ENSG00000200463	32952	https://pubmed.ncbi.nlm.nih.gov/?term=SNORD118	None	None	None	165
SNRNP200	small nuclear ribonucleoprotein U5 subunit 200	SNRNP200-related dominant retinopathy?0026431;Retinitis pigmentosa 33?0010400	https://raresource.nih.gov/literature/gene/SNRNP200	23020	ENSG00000144028	30859	https://pubmed.ncbi.nlm.nih.gov/?term=SNRNP200	None	None	12658	159
SNRPB	small nuclear ribonucleoprotein polypeptides B and B1	Cerebro-costo-mandibular syndrome?0006026	https://raresource.nih.gov/literature/gene/SNRPB	6628	ENSG00000125835	11153	https://pubmed.ncbi.nlm.nih.gov/?term=SNRPB	None	None	3449	197
SNRPE	small nuclear ribonucleoprotein polypeptide E	Hypotrichosis 11?0015900;Hypotrichosis simplex?0009170	https://raresource.nih.gov/literature/gene/SNRPE	6635	ENSG00000182004	11161	https://pubmed.ncbi.nlm.nih.gov/?term=SNRPE	None	None	5513	103
SNTA1	syntrophin alpha 1	Long QT syndrome 12?0015595	https://raresource.nih.gov/literature/gene/SNTA1	6640	ENSG00000101400	11167	https://pubmed.ncbi.nlm.nih.gov/?term=SNTA1	None	None	10513	100
SNUPN	snurportin 1	Muscular dystrophy, limb-girdle, autosomal recessive 29?0027207;SNUPN-related muscular dystrophy with or without multi-system involvement?0027279	https://raresource.nih.gov/literature/gene/SNUPN	10073	ENSG00000169371	14245	https://pubmed.ncbi.nlm.nih.gov/?term=SNUPN	None	None	8768	59
SNX10	sorting nexin 10	Autosomal recessive osteopetrosis?0015012;Autosomal recessive osteopetrosis 8?0015905	https://raresource.nih.gov/literature/gene/SNX10	29887	ENSG00000086300	14974	https://pubmed.ncbi.nlm.nih.gov/?term=SNX10	None	None	29978	107
SNX14	sorting nexin 14	Autosomal recessive spinocerebellar ataxia 20?0017636	https://raresource.nih.gov/literature/gene/SNX14	57231	ENSG00000135317	14977	https://pubmed.ncbi.nlm.nih.gov/?term=SNX14	None	None	33591	40
SOBP	sine oculis binding protein homolog	Intellectual disability, anterior maxillary protrusion, and strabismus?0017997	https://raresource.nih.gov/literature/gene/SOBP	55084	ENSG00000112320	29256	https://pubmed.ncbi.nlm.nih.gov/?term=SOBP	None	None	61907	18
SOCS1	suppressor of cytokine signaling 1	Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome?0022465;Autoinflammatory syndrome with immunodeficiency?0026448	https://raresource.nih.gov/literature/gene/SOCS1	8651	ENSG00000185338	19383	https://pubmed.ncbi.nlm.nih.gov/?term=SOCS1	None	None	1391	2919
SOD1	superoxide dismutase 1	Amyotrophic lateral sclerosis?0005786;Amyotrophic lateral sclerosis type 1?0024523	https://raresource.nih.gov/literature/gene/SOD1	6647	ENSG00000142168	11179	https://pubmed.ncbi.nlm.nih.gov/?term=SOD1	None	None	3351	69347
SOHLH1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	Spermatogenic failure 32?0016292;Ovarian dysgenesis 5?0025958	https://raresource.nih.gov/literature/gene/SOHLH1	402381	ENSG00000165643	27845	https://pubmed.ncbi.nlm.nih.gov/?term=SOHLH1	None	None	4335	84
SON	SON DNA and RNA binding protein	ZTTK syndrome?0013489	https://raresource.nih.gov/literature/gene/SON	6651	ENSG00000159140	11183	https://pubmed.ncbi.nlm.nih.gov/?term=SON	None	None	12591	564
SORD	sorbitol dehydrogenase	Neuronopathy, distal hereditary motor, autosomal recessive 8?0025518	https://raresource.nih.gov/literature/gene/SORD	6652	ENSG00000140263	11184	https://pubmed.ncbi.nlm.nih.gov/?term=SORD	None	None	15305	6161
SORL1	sortilin related receptor 1	Early-onset autosomal dominant Alzheimer disease?0012798	https://raresource.nih.gov/literature/gene/SORL1	6653	ENSG00000137642	11185	https://pubmed.ncbi.nlm.nih.gov/?term=SORL1	None	None	56210	622
SOS1	SOS Ras/Rac guanine nucleotide exchange factor 1	Fibromatosis, gingival, 1?0006509;Tetralogy of Fallot?0002245;Noonan syndrome 4?0010699;Hereditary gingival fibromatosis?0016582;Noonan syndrome?0010955	https://raresource.nih.gov/literature/gene/SOS1	6654	ENSG00000115904	11187	https://pubmed.ncbi.nlm.nih.gov/?term=SOS1	None	None	59194	13939
SOS2	SOS Ras/Rho guanine nucleotide exchange factor 2	Noonan syndrome?0010955;Noonan syndrome 9?0016137	https://raresource.nih.gov/literature/gene/SOS2	6655	ENSG00000100485	11188	https://pubmed.ncbi.nlm.nih.gov/?term=SOS2	None	None	34165	358
SOST	sclerostin	Craniodiaphyseal dysplasia, autosomal dominant?0000249;Hyperphosphatasemia tarda?0002833;Sclerosteosis?0004771;Sclerosteosis 1?0015233;Craniodiaphyseal dysplasia?0001567	https://raresource.nih.gov/literature/gene/SOST	50964	ENSG00000167941	13771	https://pubmed.ncbi.nlm.nih.gov/?term=SOST	None	None	2314	3217
SOX10	SRY-box transcription factor 10	Waardenburg syndrome type 4C?0015642;Waardenburg syndrome type 2?0005520;Hypogonadism with anosmia?0010771;Waardenburg-Shah syndrome?0005524;PCWH syndrome?0017004;Waardenburg syndrome type 2E?0015521	https://raresource.nih.gov/literature/gene/SOX10	6663	ENSG00000100146	11190	https://pubmed.ncbi.nlm.nih.gov/?term=SOX10	None	None	3264	2863
SOX11	SRY-box transcription factor 11	SOX11-related complex neurodevelopmental disorder with or without congenital anomalies?0027530;Coffin-Siris syndrome?0006124;Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism?0016023	https://raresource.nih.gov/literature/gene/SOX11	6664	ENSG00000176887	11191	https://pubmed.ncbi.nlm.nih.gov/?term=SOX11	None	None	7680	713
SOX17	SRY-box transcription factor 17	Familial vesicoureteral reflux?0017323;Vesicoureteral reflux 3?0018420	https://raresource.nih.gov/literature/gene/SOX17	64321	ENSG00000164736	18122	https://pubmed.ncbi.nlm.nih.gov/?term=SOX17	None	None	3204	1077
SOX18	SRY-box transcription factor 18	Hypotrichosis-lymphedema-telangiectasia syndrome?0015420;Hypotrichosis-lymphedema-telangiectasia syndrome (grouping)?0012827;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome?0002492	https://raresource.nih.gov/literature/gene/SOX18	54345	ENSG00000203883	11194	https://pubmed.ncbi.nlm.nih.gov/?term=SOX18	None	None	2179	280
SOX2	SRY-box transcription factor 2	Nanophthalmia?0016637;Microphthalmia, isolated, with coloboma?0003644;Anophthalmia/microphthalmia-esophageal atresia syndrome?0001443	https://raresource.nih.gov/literature/gene/SOX2	6657	ENSG00000181449	11195	https://pubmed.ncbi.nlm.nih.gov/?term=SOX2	None	None	3194	11157
SOX3	SRY-box transcription factor 3	Intellectual disability, X-linked, with panhypopituitarism?0024714;Panhypopituitarism?0015020;Panhypopituitarism, X-linked?0006737;46,XX testicular disorder of sex development?0000399;X-linked congenital generalized hypertrichosis?0002863;X-linked intellectual disability with isolated growth hormone deficiency?0016677	https://raresource.nih.gov/literature/gene/SOX3	6658	ENSG00000134595	11199	https://pubmed.ncbi.nlm.nih.gov/?term=SOX3	None	None	1576	722
SOX4	SRY-box transcription factor 4	Coffin-Siris syndrome?0006124;Coffin-Siris syndrome 10?0016358	https://raresource.nih.gov/literature/gene/SOX4	6659	ENSG00000124766	11200	https://pubmed.ncbi.nlm.nih.gov/?term=SOX4	None	None	4750	1082
SOX5	SRY-box transcription factor 5	Lamb-Shaffer syndrome?0022211;Developmental and speech delay due to SOX5 deficiency?0017415	https://raresource.nih.gov/literature/gene/SOX5	6660	ENSG00000134532	11201	https://pubmed.ncbi.nlm.nih.gov/?term=SOX5	None	None	257520	6668
SOX6	SRY-box transcription factor 6	Tolchin-Le Caignec syndrome?0018525	https://raresource.nih.gov/literature/gene/SOX6	55553	ENSG00000110693	16421	https://pubmed.ncbi.nlm.nih.gov/?term=SOX6	None	None	268019	644
SOX7	SRY-box transcription factor 7	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/SOX7	83595	ENSG00000171056	18196	https://pubmed.ncbi.nlm.nih.gov/?term=SOX7	None	None	1566	255
SOX9	SRY-box transcription factor 9	Isolated Pierre-Robin syndrome?0004347;46,XX sex reversal 2?0015249;46,XX testicular disorder of sex development?0000399;46,XY sex reversal 10?0016109;Camptomelic dysplasia?0010027;46,XX ovotesticular disorder of sex development?0016585;Pure gonadal dysgenesis 46,XY?0005068;46,XY partial gonadal dysgenesis?0017211	https://raresource.nih.gov/literature/gene/SOX9	6662	ENSG00000125398	11204	https://pubmed.ncbi.nlm.nih.gov/?term=SOX9	None	None	3677	7131
SP110	SP110 nuclear body protein	Hepatic veno-occlusive disease-immunodeficiency syndrome?0010083	https://raresource.nih.gov/literature/gene/SP110	3431	ENSG00000135899	5401	https://pubmed.ncbi.nlm.nih.gov/?term=SP110	None	None	21510	115
SP6	Sp6 transcription factor	Amelogenesis imperfecta type 1?0000645;Amelogenesis imperfecta, IIa 1K?0025693	https://raresource.nih.gov/literature/gene/SP6	80320	ENSG00000189120	14530	https://pubmed.ncbi.nlm.nih.gov/?term=SP6	None	None	3791	762
SP7	Sp7 transcription factor	Craniodiaphyseal dysplasia?0001567;Osteogenesis imperfecta type 12?0015722	https://raresource.nih.gov/literature/gene/SP7	121340	ENSG00000170374	17321	https://pubmed.ncbi.nlm.nih.gov/?term=SP7	None	None	3240	3571
SPAG1	sperm associated antigen 1	Primary ciliary dyskinesia 28?0015977;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/SPAG1	6674	ENSG00000104450	11212	https://pubmed.ncbi.nlm.nih.gov/?term=SPAG1	None	None	34213	109
SPARC	secreted protein acidic and cysteine rich	Osteogenesis imperfecta type 17?0016126	https://raresource.nih.gov/literature/gene/SPARC	6678	ENSG00000113140	11219	https://pubmed.ncbi.nlm.nih.gov/?term=SPARC	None	None	11042	2839
SPART	spartin	Troyer syndrome?0005372	https://raresource.nih.gov/literature/gene/SPART	23111	ENSG00000133104	18514	https://pubmed.ncbi.nlm.nih.gov/?term=SPART	None	None	18115	100
SPAST	spastin	Hereditary spastic paraplegia 4?0004925	https://raresource.nih.gov/literature/gene/SPAST	6683	ENSG00000021574	11233	https://pubmed.ncbi.nlm.nih.gov/?term=SPAST	None	None	48620	66
SPATA16	spermatogenesis associated 16	Globozoospermia?0015032;Male infertility due to globozoospermia?0012502	https://raresource.nih.gov/literature/gene/SPATA16	83893	ENSG00000144962	29935	https://pubmed.ncbi.nlm.nih.gov/?term=SPATA16	None	None	89614	52
SPATA22	spermatogenesis associated 22	Premature ovarian failure 25?0027332	https://raresource.nih.gov/literature/gene/SPATA22	84690	ENSG00000141255	30705	https://pubmed.ncbi.nlm.nih.gov/?term=SPATA22	None	None	18944	28
SPATA7	spermatogenesis associated 7	SPATA7-related retinopathy?0027582;Leber congenital amaurosis?0000634;Leber congenital amaurosis 3?0009661	https://raresource.nih.gov/literature/gene/SPATA7	55812	ENSG00000042317	20423	https://pubmed.ncbi.nlm.nih.gov/?term=SPATA7	None	None	None	84
SPECC1L	sperm antigen with calponin homology and coiled-coil domains 1 like	Tessier number 4 facial cleft?0016974;Commissural facial cleft?0016975;Teebi hypertelorism syndrome 1?0000957	https://raresource.nih.gov/literature/gene/SPECC1L	23384	ENSG00000100014	29022	https://pubmed.ncbi.nlm.nih.gov/?term=SPECC1L	None	None	42917	71
SPEF2	sperm flagellar 2	Spermatogenic failure 43?0018414;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/SPEF2	79925	ENSG00000152582	26293	https://pubmed.ncbi.nlm.nih.gov/?term=SPEF2	None	None	71656	75
SPEG	striated muscle enriched protein kinase	Myopathy, centronuclear, 5?0016035;Autosomal recessive centronuclear myopathy?0012718	https://raresource.nih.gov/literature/gene/SPEG	10290	ENSG00000072195	16901	https://pubmed.ncbi.nlm.nih.gov/?term=SPEG	None	None	25348	187
SPEN	spen family transcriptional repressor	Radio-Tartaglia syndrome?0027075	https://raresource.nih.gov/literature/gene/SPEN	23013	ENSG00000065526	17575	https://pubmed.ncbi.nlm.nih.gov/?term=SPEN	None	None	40316	305
SPG11	SPG11 vesicle trafficking associated, spatacsin	Hereditary spastic paraplegia 11?0004919;Amyotrophic lateral sclerosis type 5?0015343;Charcot-Marie-Tooth disease axonal type 2X?0017830;Juvenile amyotrophic lateral sclerosis?0011901	https://raresource.nih.gov/literature/gene/SPG11	80208	ENSG00000104133	11226	https://pubmed.ncbi.nlm.nih.gov/?term=SPG11	None	None	33494	300
SPG21	SPG21 abhydrolase domain containing, maspardin	Mast syndrome?0016939	https://raresource.nih.gov/literature/gene/SPG21	51324	ENSG00000090487	20373	https://pubmed.ncbi.nlm.nih.gov/?term=SPG21	None	None	8228	175
SPG7	SPG7 matrix AAA peptidase subunit, paraplegin	Hereditary spastic paraplegia 7?0004927;Primary lateral sclerosis?0010684	https://raresource.nih.gov/literature/gene/SPG7	6687	ENSG00000197912	11237	https://pubmed.ncbi.nlm.nih.gov/?term=SPG7	None	None	26595	14084
SPI1	Spi-1 proto-oncogene	Autosomal agammaglobulinemia?0009640;Agammaglobulinemia 10, autosomal dominant?0025595	https://raresource.nih.gov/literature/gene/SPI1	6688	ENSG00000066336	11241	https://pubmed.ncbi.nlm.nih.gov/?term=SPI1	None	None	4474	4215
SPIDR	scaffold protein involved in DNA repair	46 XX gonadal dysgenesis?0005671;Ovarian dysgenesis 9?0025585	https://raresource.nih.gov/literature/gene/SPIDR	23514	ENSG00000164808	28971	https://pubmed.ncbi.nlm.nih.gov/?term=SPIDR	None	None	181961	28
SPINK1	serine peptidase inhibitor Kazal type 1	Tropical pancreatitis?0016946;Hereditary pancreatitis?0006632	https://raresource.nih.gov/literature/gene/SPINK1	6690	ENSG00000164266	11244	https://pubmed.ncbi.nlm.nih.gov/?term=SPINK1	None	None	3796	3107
SPINK5	serine peptidase inhibitor Kazal type 5	Netherton syndrome?0007182	https://raresource.nih.gov/literature/gene/SPINK5	11005	ENSG00000133710	15464	https://pubmed.ncbi.nlm.nih.gov/?term=SPINK5	None	None	27417	1328
SPINT2	serine peptidase inhibitor, Kunitz type 2	Syndromic congenital sodium diarrhea?0022262;Congenital secretory sodium diarrhea 3?0018260	https://raresource.nih.gov/literature/gene/SPINT2	10653	ENSG00000167642	11247	https://pubmed.ncbi.nlm.nih.gov/?term=SPINT2	None	None	8540	668
SPNS2	SPNS lysolipid transporter 2, sphingosine-1-phosphate	Hearing loss, autosomal recessive 115?0025736	https://raresource.nih.gov/literature/gene/SPNS2	124976	ENSG00000183018	26992	https://pubmed.ncbi.nlm.nih.gov/?term=SPNS2	None	None	12756	150
SPOP	speckle type BTB/POZ protein	Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies?0027140;Neurodevelopmental disorder with microcephaly and dysmorphic facies?0027139	https://raresource.nih.gov/literature/gene/SPOP	8405	ENSG00000121067	11254	https://pubmed.ncbi.nlm.nih.gov/?term=SPOP	None	None	19621	579
SPR	sepiapterin reductase	Dopa-responsive dystonia due to sepiapterin reductase deficiency?0010365	https://raresource.nih.gov/literature/gene/SPR	6697	ENSG00000116096	11257	https://pubmed.ncbi.nlm.nih.gov/?term=SPR	None	None	3218	670
SPRED1	sprouty related EVH1 domain containing 1	Legius syndrome?0010714	https://raresource.nih.gov/literature/gene/SPRED1	161742	ENSG00000166068	20249	https://pubmed.ncbi.nlm.nih.gov/?term=SPRED1	None	None	29554	297
SPRED2	sprouty related EVH1 domain containing 2	Noonan syndrome?0010955;Noonan syndrome 14?0025608	https://raresource.nih.gov/literature/gene/SPRED2	200734	ENSG00000198369	17722	https://pubmed.ncbi.nlm.nih.gov/?term=SPRED2	None	None	48227	124
SPRTN	SprT-like N-terminal domain	Progeroid features-hepatocellular carcinoma predisposition syndrome?0017722	https://raresource.nih.gov/literature/gene/SPRTN	83932	ENSG00000010072	25356	https://pubmed.ncbi.nlm.nih.gov/?term=SPRTN	None	None	7309	91
SPRY4	sprouty RTK signaling antagonist 4	Hypogonadism with anosmia?0010771;Hypogonadotropic hypogonadism 17 with or without anosmia?0015928;Hypogonadotropic hypogonadism?0016533	https://raresource.nih.gov/literature/gene/SPRY4	81848	ENSG00000187678	15533	https://pubmed.ncbi.nlm.nih.gov/?term=SPRY4	None	None	7804	310
SPTA1	spectrin alpha, erythrocytic 1	Hereditary spherocytosis type 3?0015236;Elliptocytosis 2?0015064;Pyropoikilocytosis, hereditary?0004619;Hereditary elliptocytosis?0006621;Hereditary spherocytosis?0006639	https://raresource.nih.gov/literature/gene/SPTA1	6708	ENSG00000163554	11272	https://pubmed.ncbi.nlm.nih.gov/?term=SPTA1	None	None	33676	487
SPTAN1	spectrin alpha, non-erythrocytic 1	Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia?0026878;Developmental and epileptic encephalopathy, 5?0012949;Neuronopathy, distal hereditary motor, autosomal dominant 11?0026889	https://raresource.nih.gov/literature/gene/SPTAN1	6709	ENSG00000197694	11273	https://pubmed.ncbi.nlm.nih.gov/?term=SPTAN1	None	None	34289	381
SPTB	spectrin beta, erythrocytic	Hereditary spherocytosis type 2?0016149;Elliptocytosis 3?0016273;Hereditary elliptocytosis?0006621;Hereditary spherocytosis?0006639	https://raresource.nih.gov/literature/gene/SPTB	6710	ENSG00000070182	11274	https://pubmed.ncbi.nlm.nih.gov/?term=SPTB	None	None	33475	312
SPTBN2	spectrin beta, non-erythrocytic 2	Spinocerebellar ataxia type 5?0004953;Autosomal recessive spinocerebellar ataxia 14?0017516	https://raresource.nih.gov/literature/gene/SPTBN2	6712	ENSG00000173898	11276	https://pubmed.ncbi.nlm.nih.gov/?term=SPTBN2	None	None	19224	130
SPTLC1	serine palmitoyltransferase long chain base subunit 1	Neuropathy, hereditary sensory and autonomic, type 1A?0015095;Amyotrophic lateral sclerosis 27, juvenile?0026740;Hereditary sensory and autonomic neuropathy type 1?0006635;Juvenile amyotrophic lateral sclerosis?0011901	https://raresource.nih.gov/literature/gene/SPTLC1	10558	ENSG00000090054	11277	https://pubmed.ncbi.nlm.nih.gov/?term=SPTLC1	None	None	31388	279
SPTLC2	serine palmitoyltransferase long chain base subunit 2	Hereditary sensory and autonomic neuropathy type 1?0006635;Neuropathy, hereditary sensory and autonomic, type 1C?0015683	https://raresource.nih.gov/literature/gene/SPTLC2	9517	ENSG00000100596	11278	https://pubmed.ncbi.nlm.nih.gov/?term=SPTLC2	None	None	31736	229
SPTSSA	serine palmitoyltransferase small subunit A	Spastic paraplegia 90A, autosomal dominant?0026815;Spastic paraplegia 90B, autosomal recessive?0026816	https://raresource.nih.gov/literature/gene/SPTSSA	171546	ENSG00000165389	20361	https://pubmed.ncbi.nlm.nih.gov/?term=SPTSSA	None	None	9794	24
SQOR	sulfide quinone oxidoreductase	Sulfide quinone oxidoreductase deficiency?0025671	https://raresource.nih.gov/literature/gene/SQOR	58472	ENSG00000137767	20390	https://pubmed.ncbi.nlm.nih.gov/?term=SQOR	None	None	17045	389
SQSTM1	sequestosome 1	Amyotrophic lateral sclerosis?0005786;Paget disease of bone 3?0004191;Frontotemporal dementia and/or amyotrophic lateral sclerosis 3?0016113;Myopathy, distal, with rimmed vacuoles?0016204;Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset?0027264;Behavioral variant of frontotemporal dementia?0007392;SQSTM1-related multisystem proteinopathy?0026565;Frontotemporal dementia with motor neuron disease?0017273	https://raresource.nih.gov/literature/gene/SQSTM1	8878	ENSG00000161011	11280	https://pubmed.ncbi.nlm.nih.gov/?term=SQSTM1	None	None	14677	13012
SRC	SRC proto-oncogene, non-receptor tyrosine kinase	Thrombocytopenia 6?0017870	https://raresource.nih.gov/literature/gene/SRC	6714	ENSG00000197122	11283	https://pubmed.ncbi.nlm.nih.gov/?term=SRC	None	None	22307	33243
SRCAP	Snf2 related CREBBP activator protein	Floating-Harbor syndrome?0006455	https://raresource.nih.gov/literature/gene/SRCAP	10847	ENSG00000080603	16974	https://pubmed.ncbi.nlm.nih.gov/?term=SRCAP	None	None	14776	377
SRD5A2	steroid 5 alpha-reductase 2	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency?0005680	https://raresource.nih.gov/literature/gene/SRD5A2	6716	ENSG00000277893	11285	https://pubmed.ncbi.nlm.nih.gov/?term=SRD5A2	None	None	23544	654
SRD5A3	steroid 5 alpha-reductase 3	SRD5A3-congenital disorder of glycosylation?0012397	https://raresource.nih.gov/literature/gene/SRD5A3	79644	ENSG00000128039	25812	https://pubmed.ncbi.nlm.nih.gov/?term=SRD5A3	None	None	12195	114
SREBF1	sterol regulatory element binding transcription factor 1	IFAP syndrome 2?0016402;Aganglionic megacolon?0006660;Hereditary mucoepithelial dysplasia?0005427	https://raresource.nih.gov/literature/gene/SREBF1	6720	ENSG00000072310	11289	https://pubmed.ncbi.nlm.nih.gov/?term=SREBF1	None	None	10742	3271
SRF	serum response factor	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/SRF	6722	ENSG00000112658	11291	https://pubmed.ncbi.nlm.nih.gov/?term=SRF	None	None	4706	2841
SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	Thyroid cancer, nonmedullary, 2?0005206	https://raresource.nih.gov/literature/gene/SRGAP1	57522	ENSG00000196935	17382	https://pubmed.ncbi.nlm.nih.gov/?term=SRGAP1	None	None	99463	63
SRP19	signal recognition particle 19	Autosomal dominant severe congenital neutropenia?0009558	https://raresource.nih.gov/literature/gene/SRP19	6728	ENSG00000153037	11300	https://pubmed.ncbi.nlm.nih.gov/?term=SRP19	None	None	8388	95
SRP54	signal recognition particle 54	Neutropenia, severe congenital, 8, autosomal dominant?0016375	https://raresource.nih.gov/literature/gene/SRP54	6729	ENSG00000100883	11301	https://pubmed.ncbi.nlm.nih.gov/?term=SRP54	None	None	22651	275
SRP68	signal recognition particle 68	Neutropenia, severe congenital, 10, autosomal recessive?0026875	https://raresource.nih.gov/literature/gene/SRP68	6730	ENSG00000167881	11302	https://pubmed.ncbi.nlm.nih.gov/?term=SRP68	None	None	11229	38
SRP72	signal recognition particle 72	Autosomal dominant aplasia and myelodysplasia?0017420	https://raresource.nih.gov/literature/gene/SRP72	6731	ENSG00000174780	11303	https://pubmed.ncbi.nlm.nih.gov/?term=SRP72	None	None	15894	67
SRPK3	SRSF protein kinase 3	Intellectual developmental disorder, X-linked 114?0027325	https://raresource.nih.gov/literature/gene/SRPK3	26576	ENSG00000184343	11402	https://pubmed.ncbi.nlm.nih.gov/?term=SRPK3	None	None	1706	27
SRPX2	sushi repeat containing protein X-linked 2	Rolandic epilepsy-speech dyspraxia syndrome?0017002;Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked?0018282	https://raresource.nih.gov/literature/gene/SRPX2	27286	ENSG00000102359	30668	https://pubmed.ncbi.nlm.nih.gov/?term=SRPX2	None	None	5756	355
SRRM2	serine/arginine repetitive matrix 2	Intellectual developmental disorder, autosomal dominant 72?0026821	https://raresource.nih.gov/literature/gene/SRRM2	23524	ENSG00000167978	16639	https://pubmed.ncbi.nlm.nih.gov/?term=SRRM2	None	None	10976	827
SRSF2	serine and arginine rich splicing factor 2	Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease?0019596;Aggressive systemic mastocytosis?0019597	https://raresource.nih.gov/literature/gene/SRSF2	6427	ENSG00000161547	10783	https://pubmed.ncbi.nlm.nih.gov/?term=SRSF2	None	None	1459	1324
SRY	sex determining region Y	46,XX sex reversal 1?0026098;46,XY sex reversal 1?0025219;46,XX testicular disorder of sex development?0000399;46,XX ovotesticular disorder of sex development?0016585;Pure gonadal dysgenesis 46,XY?0005068;46,XY partial gonadal dysgenesis?0017211	https://raresource.nih.gov/literature/gene/SRY	6736	ENSG00000184895	11311	https://pubmed.ncbi.nlm.nih.gov/?term=SRY	None	None	337	5345
SSBP1	single stranded DNA binding protein 1	Optic atrophy 13 with retinal and foveal abnormalities?0024603	https://raresource.nih.gov/literature/gene/SSBP1	6742	ENSG00000106028	11317	https://pubmed.ncbi.nlm.nih.gov/?term=SSBP1	None	None	18001	219
SSR4	signal sequence receptor subunit 4	SSR4-congenital disorder of glycosylation?0012405	https://raresource.nih.gov/literature/gene/SSR4	6748	ENSG00000180879	11326	https://pubmed.ncbi.nlm.nih.gov/?term=SSR4	None	None	1221	48
ST14	ST14 transmembrane serine protease matriptase	Autosomal recessive congenital ichthyosis 11?0010116	https://raresource.nih.gov/literature/gene/ST14	6768	ENSG00000149418	11344	https://pubmed.ncbi.nlm.nih.gov/?term=ST14	None	None	14240	402
ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	Developmental and epileptic encephalopathy, 15?0015892;Intellectual disability, autosomal recessive 12?0022540	https://raresource.nih.gov/literature/gene/ST3GAL3	6487	ENSG00000126091	10866	https://pubmed.ncbi.nlm.nih.gov/?term=ST3GAL3	None	None	82584	137
ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	GM3 synthase deficiency?0012059	https://raresource.nih.gov/literature/gene/ST3GAL5	8869	ENSG00000115525	10872	https://pubmed.ncbi.nlm.nih.gov/?term=ST3GAL5	None	None	24589	268
STAC3	SH3 and cysteine rich domain 3	Bailey-Bloch congenital myopathy?0008432	https://raresource.nih.gov/literature/gene/STAC3	246329	ENSG00000185482	28423	https://pubmed.ncbi.nlm.nih.gov/?term=STAC3	None	None	4022	520
STAG1	STAG1 cohesin complex component	Intellectual disability, autosomal dominant 47?0017935	https://raresource.nih.gov/literature/gene/STAG1	10274	ENSG00000118007	11354	https://pubmed.ncbi.nlm.nih.gov/?term=STAG1	None	None	165226	197
STAG2	STAG2 cohesin complex component	Holoprosencephaly 13, X-linked?0025490;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/STAG2	10735	ENSG00000101972	11355	https://pubmed.ncbi.nlm.nih.gov/?term=STAG2	None	None	71717	451
STAG3	STAG3 cohesin complex component	Premature ovarian failure 8?0024985	https://raresource.nih.gov/literature/gene/STAG3	10734	ENSG00000066923	11356	https://pubmed.ncbi.nlm.nih.gov/?term=STAG3	None	None	13884	102
STAMBP	STAM binding protein	Microcephaly-capillary malformation syndrome?0017354	https://raresource.nih.gov/literature/gene/STAMBP	10617	ENSG00000124356	16950	https://pubmed.ncbi.nlm.nih.gov/?term=STAMBP	None	None	19067	136
STAR	steroidogenic acute regulatory protein	Congenital lipoid adrenal hyperplasia due to STAR deficency?0001465;Classic congenital lipoid adrenal hyperplasia due to STAR deficency?0021473;Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency?0021474	https://raresource.nih.gov/literature/gene/STAR	6770	ENSG00000147465	11359	https://pubmed.ncbi.nlm.nih.gov/?term=STAR	None	None	4802	4759
STARD7	StAR related lipid transfer domain containing 7	Epilepsy, familial adult myoclonic, 2?0018083	https://raresource.nih.gov/literature/gene/STARD7	56910	ENSG00000084090	18063	https://pubmed.ncbi.nlm.nih.gov/?term=STARD7	None	None	11464	79
STAT1	signal transducer and activator of transcription 1	Immunodeficiency 31B?0017612;Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency?0017462;Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome?0012314	https://raresource.nih.gov/literature/gene/STAT1	6772	ENSG00000115415	11362	https://pubmed.ncbi.nlm.nih.gov/?term=STAT1	None	None	39359	11952
STAT2	signal transducer and activator of transcription 2	Pseudo-TORCH syndrome 3?0025516;Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection?0017711	https://raresource.nih.gov/literature/gene/STAT2	6773	ENSG00000170581	11363	https://pubmed.ncbi.nlm.nih.gov/?term=STAT2	None	None	7212	1530
STAT3	signal transducer and activator of transcription 3	STAT3-related early-onset multisystem autoimmune disease?0017737;Hyper-IgE recurrent infection syndrome 1, autosomal dominant?0006800;T-cell large granular lymphocyte leukemia?0009812;Chronic lymphoproliferative disorder of NK-cells?0022072;Permanent neonatal diabetes mellitus?0010457	https://raresource.nih.gov/literature/gene/STAT3	6774	ENSG00000168610	11364	https://pubmed.ncbi.nlm.nih.gov/?term=STAT3	None	None	21703	37782
STAT5B	signal transducer and activator of transcription 5B	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive?0018311;Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant?0018312	https://raresource.nih.gov/literature/gene/STAT5B	6777	ENSG00000173757	11367	https://pubmed.ncbi.nlm.nih.gov/?term=STAT5B	None	None	22491	6784
STAT6	signal transducer and activator of transcription 6	Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections?0026874	https://raresource.nih.gov/literature/gene/STAT6	6778	ENSG00000166888	11368	https://pubmed.ncbi.nlm.nih.gov/?term=STAT6	None	None	12224	2885
STEAP3	STEAP3 metalloreductase	Severe congenital hypochromic anemia with ringed sideroblasts?0017364	https://raresource.nih.gov/literature/gene/STEAP3	55240	ENSG00000115107	24592	https://pubmed.ncbi.nlm.nih.gov/?term=STEAP3	None	None	16632	206
STEEP1	STING1 ER exit protein 1	Intellectual disability, X-linked 107?0022698;Non-syndromic X-linked intellectual disability?0018640	https://raresource.nih.gov/literature/gene/STEEP1	63932	ENSG00000018610	26239	https://pubmed.ncbi.nlm.nih.gov/?term=STEEP1	None	None	None	11
STIL	STIL centriolar assembly protein	Microcephaly 7, primary, autosomal recessive?0015580;Lobar holoprosencephaly?0016830;Autosomal recessive primary microcephaly?0012117;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/STIL	6491	ENSG00000123473	10879	https://pubmed.ncbi.nlm.nih.gov/?term=STIL	None	None	26902	439
STIM1	stromal interaction molecule 1	Myopathy with tubular aggregates?0003884;Stormorken syndrome?0005188;Myopathy, tubular aggregate, 1?0025414;Combined immunodeficiency due to STIM1 deficiency?0010523	https://raresource.nih.gov/literature/gene/STIM1	6786	ENSG00000167323	11386	https://pubmed.ncbi.nlm.nih.gov/?term=STIM1	None	None	92514	2740
STING1	stimulator of interferon response cGAMP interactor 1	Familial chilblain lupus?0017874;STING-associated vasculopathy with onset in infancy?0012357	https://raresource.nih.gov/literature/gene/STING1	340061	ENSG00000184584	27962	https://pubmed.ncbi.nlm.nih.gov/?term=STING1	None	None	4285	7326
STK11	serine/threonine kinase 11	Germ cell tumor of testis?0013047;Peutz-Jeghers syndrome?0007378;Familial pancreatic carcinoma?0004206	https://raresource.nih.gov/literature/gene/STK11	6794	ENSG00000118046	11389	https://pubmed.ncbi.nlm.nih.gov/?term=STK11	None	None	12989	4161
STK36	serine/threonine kinase 36	Ciliary dyskinesia, primary, 46?0025542;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/STK36	27148	ENSG00000163482	17209	https://pubmed.ncbi.nlm.nih.gov/?term=STK36	None	None	12906	1
STK4	serine/threonine kinase 4	Combined immunodeficiency due to STK4 deficiency?0017430	https://raresource.nih.gov/literature/gene/STK4	6789	ENSG00000101109	11408	https://pubmed.ncbi.nlm.nih.gov/?term=STK4	None	None	26740	1020
STN1	STN1 subunit of CST complex	Cerebroretinal microangiopathy with calcifications and cysts 2?0018442;Coats plus syndrome?0017412	https://raresource.nih.gov/literature/gene/STN1	79991	ENSG00000107960	26200	https://pubmed.ncbi.nlm.nih.gov/?term=STN1	None	None	16099	300
STOX1	storkhead box 1	Preeclampsia/eclampsia 4?0018392	https://raresource.nih.gov/literature/gene/STOX1	219736	ENSG00000165730	23508	https://pubmed.ncbi.nlm.nih.gov/?term=STOX1	None	None	27396	72
STRA6	signaling receptor and transporter of retinol STRA6	Microphthalmia, isolated, with coloboma?0003644;Matthew-Wood syndrome?0000713	https://raresource.nih.gov/literature/gene/STRA6	64220	ENSG00000137868	30650	https://pubmed.ncbi.nlm.nih.gov/?term=STRA6	None	None	9071	252
STRADA	STE20 related adaptor alpha	Polyhydramnios, megalencephaly, and symptomatic epilepsy?0012913	https://raresource.nih.gov/literature/gene/STRADA	92335	ENSG00000266173	30172	https://pubmed.ncbi.nlm.nih.gov/?term=STRADA	None	None	11466	144
STRC	stereocilin	Hearing loss, autosomal recessive?0018117;Deafness-infertility syndrome?0011911;Autosomal recessive nonsyndromic hearing loss 16?0022597	https://raresource.nih.gov/literature/gene/STRC	161497	ENSG00000242866	16035	https://pubmed.ncbi.nlm.nih.gov/?term=STRC	None	None	5076	135
STS	steroid sulfatase	X-linked ichthyosis with steryl-sulfatase deficiency?0007904	https://raresource.nih.gov/literature/gene/STS	412	ENSG00000101846	11425	https://pubmed.ncbi.nlm.nih.gov/?term=STS	None	None	108578	6724
STT3A	STT3 oligosaccharyltransferase complex catalytic subunit A	Congenital disorder of glycosylation, type Iw, autosomal dominant?0026670;STT3A-congenital disorder of glycosylation?0017602	https://raresource.nih.gov/literature/gene/STT3A	3703	ENSG00000134910	6172	https://pubmed.ncbi.nlm.nih.gov/?term=STT3A	None	None	7944	759
STT3B	STT3 oligosaccharyltransferase complex catalytic subunit B	STT3B-congenital disorder of glycosylation?0017603	https://raresource.nih.gov/literature/gene/STT3B	201595	ENSG00000163527	30611	https://pubmed.ncbi.nlm.nih.gov/?term=STT3B	None	None	41810	90
STUB1	STIP1 homology and U-box containing protein 1	Spinocerebellar ataxia 48?0025702;Autosomal recessive spinocerebellar ataxia 16?0017689	https://raresource.nih.gov/literature/gene/STUB1	10273	ENSG00000103266	11427	https://pubmed.ncbi.nlm.nih.gov/?term=STUB1	None	None	1967	1383
STX11	syntaxin 11	Familial hemophagocytic lymphohistiocytosis 4?0009929;Familial hemophagocytic lymphohistiocytosis?0006589	https://raresource.nih.gov/literature/gene/STX11	8676	ENSG00000135604	11429	https://pubmed.ncbi.nlm.nih.gov/?term=STX11	None	None	16653	180
STX16	syntaxin 16	Pseudohypoparathyroidism type 1B?0010680	https://raresource.nih.gov/literature/gene/STX16	8675	ENSG00000124222	11431	https://pubmed.ncbi.nlm.nih.gov/?term=STX16	None	None	8399	147
STX1B	syntaxin 1B	Generalized epilepsy with febrile seizures plus?0018641;Generalized epilepsy with febrile seizures plus, type 9?0018668	https://raresource.nih.gov/literature/gene/STX1B	112755	ENSG00000099365	18539	https://pubmed.ncbi.nlm.nih.gov/?term=STX1B	None	None	6613	170
STX4	syntaxin 4	Hearing loss, autosomal recessive 123?0027003	https://raresource.nih.gov/literature/gene/STX4	6810	ENSG00000103496	11439	https://pubmed.ncbi.nlm.nih.gov/?term=STX4	None	None	3210	795
STX5	syntaxin 5	Congenital disorder of glycosylation, type IIaa?0026860	https://raresource.nih.gov/literature/gene/STX5	6811	ENSG00000162236	11440	https://pubmed.ncbi.nlm.nih.gov/?term=STX5	None	None	4143	170
STXBP1	syntaxin binding protein 1	Developmental and epileptic encephalopathy, 4?0012900	https://raresource.nih.gov/literature/gene/STXBP1	6812	ENSG00000136854	11444	https://pubmed.ncbi.nlm.nih.gov/?term=STXBP1	None	None	44012	1632
STXBP2	syntaxin binding protein 2	Familial hemophagocytic lymphohistiocytosis?0006589;Familial hemophagocytic lymphohistiocytosis 5?0015614	https://raresource.nih.gov/literature/gene/STXBP2	6813	ENSG00000076944	11445	https://pubmed.ncbi.nlm.nih.gov/?term=STXBP2	None	None	5908	200
SUCLA2	succinate-CoA ligase ADP-forming subunit beta	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria?0003681	https://raresource.nih.gov/literature/gene/SUCLA2	8803	ENSG00000136143	11448	https://pubmed.ncbi.nlm.nih.gov/?term=SUCLA2	None	None	68781	1774
SUCLG1	succinate-CoA ligase GDP/ADP-forming subunit alpha	Mitochondrial DNA depletion syndrome 9?0003163	https://raresource.nih.gov/literature/gene/SUCLG1	8802	ENSG00000163541	11449	https://pubmed.ncbi.nlm.nih.gov/?term=SUCLG1	None	None	13926	575
SUFU	SUFU negative regulator of hedgehog signaling	Medulloblastoma?0007005;Joubert syndrome?0006802;Familial meningioma?0018385;Basal cell nevus syndrome 2?0026965;Meningioma?0007015;Joubert syndrome 32?0025792;Gorlin syndrome?0007166	https://raresource.nih.gov/literature/gene/SUFU	51684	ENSG00000107882	16466	https://pubmed.ncbi.nlm.nih.gov/?term=SUFU	None	None	58635	508
SUGCT	succinyl-CoA:glutarate-CoA transferase	Glutaryl-CoA oxidase deficiency?0012469	https://raresource.nih.gov/literature/gene/SUGCT	79783	ENSG00000175600	16001	https://pubmed.ncbi.nlm.nih.gov/?term=SUGCT	None	None	262306	84
SULT2B1	sulfotransferase family 2B member 1	Congenital nonbullous ichthyosiform erythroderma?0009736;Ichthyosis, congenital, autosomal recessive 14?0016471;Lamellar ichthyosis?0010803	https://raresource.nih.gov/literature/gene/SULT2B1	6820	ENSG00000088002	11459	https://pubmed.ncbi.nlm.nih.gov/?term=SULT2B1	None	None	21427	152
SUMF1	sulfatase modifying factor 1	Multiple sulfatase deficiency?0005061	https://raresource.nih.gov/literature/gene/SUMF1	285362	ENSG00000144455	20376	https://pubmed.ncbi.nlm.nih.gov/?term=SUMF1	None	None	307238	201
SUMO1	small ubiquitin like modifier 1	Orofacial cleft 10?0018306	https://raresource.nih.gov/literature/gene/SUMO1	7341	ENSG00000116030	12502	https://pubmed.ncbi.nlm.nih.gov/?term=SUMO1	None	None	14832	1358
SUN5	Sad1 and UNC84 domain containing 5	Male infertility due to acephalic spermatozoa?0017971	https://raresource.nih.gov/literature/gene/SUN5	140732	ENSG00000167098	16252	https://pubmed.ncbi.nlm.nih.gov/?term=SUN5	None	None	6594	57
SUOX	sulfite oxidase	Sulfite oxidase deficiency?0005062	https://raresource.nih.gov/literature/gene/SUOX	6821	ENSG00000139531	11460	https://pubmed.ncbi.nlm.nih.gov/?term=SUOX	None	None	2945	520
SUPT7L	SPT7 like, STAGA complex subunit gamma	Fischer-Zirnsak progeroid syndrome?0027388	https://raresource.nih.gov/literature/gene/SUPT7L	9913	ENSG00000119760	30632	https://pubmed.ncbi.nlm.nih.gov/?term=SUPT7L	None	None	4123	10
SURF1	SURF1 cytochrome c oxidase assembly factor	Charcot-Marie-Tooth disease type 4K?0017616;Mitochondrial complex IV deficiency, nuclear type 1?0015158	https://raresource.nih.gov/literature/gene/SURF1	6834	ENSG00000148290	11474	https://pubmed.ncbi.nlm.nih.gov/?term=SURF1	None	None	2639	212
SUZ12	SUZ12 polycomb repressive complex 2 subunit	Imagawa-Matsumoto syndrome?0016381	https://raresource.nih.gov/literature/gene/SUZ12	23512	ENSG00000178691	17101	https://pubmed.ncbi.nlm.nih.gov/?term=SUZ12	None	None	25241	749
SV2A	synaptic vesicle glycoprotein 2A	Developmental and epileptic encephalopathy 113?0027010	https://raresource.nih.gov/literature/gene/SV2A	9900	ENSG00000159164	20566	https://pubmed.ncbi.nlm.nih.gov/?term=SV2A	None	None	4948	846
SVBP	small vasohibin binding protein	Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly?0018519	https://raresource.nih.gov/literature/gene/SVBP	374969	ENSG00000177868	29204	https://pubmed.ncbi.nlm.nih.gov/?term=SVBP	None	None	4708	40
SVIL	supervillin	Myofibrillar myopathy 10?0025814	https://raresource.nih.gov/literature/gene/SVIL	6840	ENSG00000197321	11480	https://pubmed.ncbi.nlm.nih.gov/?term=SVIL	None	None	37319	110
SYCE1	synaptonemal complex central element protein 1	Spermatogenic failure 15?0016173;Premature ovarian failure 12?0025025	https://raresource.nih.gov/literature/gene/SYCE1	93426	ENSG00000171772	28852	https://pubmed.ncbi.nlm.nih.gov/?term=SYCE1	None	None	7601	61
SYCP2	synaptonemal complex protein 2	Oligosynaptic infertility?0015214	https://raresource.nih.gov/literature/gene/SYCP2	10388	ENSG00000196074	11490	https://pubmed.ncbi.nlm.nih.gov/?term=SYCP2	None	None	25714	482
SYCP2L	synaptonemal complex protein 2 like	Premature ovarian failure 24?0027097	https://raresource.nih.gov/literature/gene/SYCP2L	221711	ENSG00000153157	21537	https://pubmed.ncbi.nlm.nih.gov/?term=SYCP2L	None	None	34257	12
SYCP3	synaptonemal complex protein 3	Spermatogenic failure 4?0015235	https://raresource.nih.gov/literature/gene/SYCP3	50511	ENSG00000139351	18130	https://pubmed.ncbi.nlm.nih.gov/?term=SYCP3	None	None	3963	649
SYN1	synapsin I	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders?0016748;Intellectual disability, X-linked 50?0022668	https://raresource.nih.gov/literature/gene/SYN1	6853	ENSG00000008056	11494	https://pubmed.ncbi.nlm.nih.gov/?term=SYN1	None	None	9237	1936
SYNE1	spectrin repeat containing nuclear envelope protein 1	Autosomal recessive myogenic arthrogryposis multiplex congenita?0017447;Autosomal dominant Emery-Dreifuss muscular dystrophy?0016865;Emery-Dreifuss muscular dystrophy 4, autosomal dominant?0018206;Autosomal recessive ataxia, Beauce type?0012234;Arthrogryposis multiplex congenita 3, myogenic type?0025740	https://raresource.nih.gov/literature/gene/SYNE1	23345	ENSG00000131018	17089	https://pubmed.ncbi.nlm.nih.gov/?term=SYNE1	None	None	238504	526
SYNE2	spectrin repeat containing nuclear envelope protein 2	Autosomal dominant Emery-Dreifuss muscular dystrophy?0016865;Emery-Dreifuss muscular dystrophy 5, autosomal dominant?0018207	https://raresource.nih.gov/literature/gene/SYNE2	23224	ENSG00000054654	17084	https://pubmed.ncbi.nlm.nih.gov/?term=SYNE2	None	None	111507	189
SYNE4	spectrin repeat containing nuclear envelope family member 4	Autosomal recessive nonsyndromic hearing loss 76?0022650;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/SYNE4	163183	ENSG00000181392	26703	https://pubmed.ncbi.nlm.nih.gov/?term=SYNE4	None	None	2537	18
SYNGAP1	synaptic Ras GTPase activating protein 1	Intellectual disability, autosomal dominant 5?0012558	https://raresource.nih.gov/literature/gene/SYNGAP1	8831	ENSG00000197283	11497	https://pubmed.ncbi.nlm.nih.gov/?term=SYNGAP1	None	None	14112	685
SYNJ1	synaptojanin 1	Developmental and epileptic encephalopathy, 53?0016224;Undetermined early-onset epileptic encephalopathy?0015028;Early-onset Parkinson disease 20?0018462;Atypical juvenile parkinsonism?0017621;Young-onset Parkinson disease?0016610	https://raresource.nih.gov/literature/gene/SYNJ1	8867	ENSG00000159082	11503	https://pubmed.ncbi.nlm.nih.gov/?term=SYNJ1	None	None	24283	259
SYP	synaptophysin	Intellectual disability, X-linked 96?0022685;Non-syndromic X-linked intellectual disability?0018640	https://raresource.nih.gov/literature/gene/SYP	6855	ENSG00000102003	11506	https://pubmed.ncbi.nlm.nih.gov/?term=SYP	None	None	2994	480
SYT1	synaptotagmin 1	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome?0017962	https://raresource.nih.gov/literature/gene/SYT1	6857	ENSG00000067715	11509	https://pubmed.ncbi.nlm.nih.gov/?term=SYT1	None	None	184607	16792
SYT14	synaptotagmin 14	Autosomal recessive spinocerebellar ataxia 11?0017312	https://raresource.nih.gov/literature/gene/SYT14	255928	ENSG00000143469	23143	https://pubmed.ncbi.nlm.nih.gov/?term=SYT14	None	None	104195	17
SYT2	synaptotagmin 2	Congenital myasthenic syndrome 7?0016053;Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive?0025545	https://raresource.nih.gov/literature/gene/SYT2	127833	ENSG00000143858	11510	https://pubmed.ncbi.nlm.nih.gov/?term=SYT2	None	None	46012	219
SZT2	SZT2 subunit of KICSTOR complex	Developmental and epileptic encephalopathy, 18?0013676;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/SZT2	23334	ENSG00000198198	29040	https://pubmed.ncbi.nlm.nih.gov/?term=SZT2	None	None	26660	51
TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation?0027175;Congenital heart defects, multiple types, 2?0024964;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/TAB2	23118	ENSG00000055208	17075	https://pubmed.ncbi.nlm.nih.gov/?term=TAB2	None	None	37054	382
TAC3	tachykinin precursor 3	Hypogonadotropic hypogonadism 10 with or without anosmia?0018600;Hypogonadotropic hypogonadism?0016533	https://raresource.nih.gov/literature/gene/TAC3	6866	ENSG00000166863	11521	https://pubmed.ncbi.nlm.nih.gov/?term=TAC3	None	None	4452	1702
TACO1	translational activator of cytochrome c oxidase I	Mitochondrial complex IV deficiency, nuclear type 8?0016407	https://raresource.nih.gov/literature/gene/TACO1	51204	ENSG00000136463	24316	https://pubmed.ncbi.nlm.nih.gov/?term=TACO1	None	None	3124	26
TACR3	tachykinin receptor 3	Hypogonadism with anosmia?0010771;Hypogonadotropic hypogonadism 11 with or without anosmia?0015851;Hypogonadotropic hypogonadism?0016533	https://raresource.nih.gov/literature/gene/TACR3	6870	ENSG00000169836	11528	https://pubmed.ncbi.nlm.nih.gov/?term=TACR3	None	None	60242	1111
TACSTD2	tumor associated calcium signal transducer 2	Gelatinous droplike corneal dystrophy?0009647	https://raresource.nih.gov/literature/gene/TACSTD2	4070	ENSG00000184292	11530	https://pubmed.ncbi.nlm.nih.gov/?term=TACSTD2	None	None	2553	906
TAF1	TATA-box binding protein associated factor 1	X-linked dystonia-parkinsonism?0010533;Tetralogy of Fallot?0002245;Intellectual disability, X-linked, syndromic 33?0024731	https://raresource.nih.gov/literature/gene/TAF1	6872	ENSG00000147133	11535	https://pubmed.ncbi.nlm.nih.gov/?term=TAF1	None	None	37328	1346
TAF13	TATA-box binding protein associated factor 13	Intellectual disability, autosomal recessive 60?0025890;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/TAF13	6884	ENSG00000197780	11546	https://pubmed.ncbi.nlm.nih.gov/?term=TAF13	None	None	7961	23
TAF15	TATA-box binding protein associated factor 15	Extraskeletal myxoid chondrosarcoma?0017105	https://raresource.nih.gov/literature/gene/TAF15	8148	ENSG00000270647	11547	https://pubmed.ncbi.nlm.nih.gov/?term=TAF15	None	None	16145	356
TAF1A	TATA-box binding protein associated factor, RNA polymerase I subunit A	Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/TAF1A	9015	ENSG00000143498	11532	https://pubmed.ncbi.nlm.nih.gov/?term=TAF1A	None	None	11763	221
TAF2	TATA-box binding protein associated factor 2	Microcephaly-thin corpus callosum-intellectual disability syndrome?0017645	https://raresource.nih.gov/literature/gene/TAF2	6873	ENSG00000064313	11536	https://pubmed.ncbi.nlm.nih.gov/?term=TAF2	None	None	38470	45
TAF4	TATA-box binding protein associated factor 4	Intellectual developmental disorder, autosomal dominant 73?0026856	https://raresource.nih.gov/literature/gene/TAF4	6874	ENSG00000130699	11537	https://pubmed.ncbi.nlm.nih.gov/?term=TAF4	None	None	30669	5127
TAF4B	TATA-box binding protein associated factor 4b	Spermatogenic failure 13?0016019	https://raresource.nih.gov/literature/gene/TAF4B	6875	ENSG00000141384	11538	https://pubmed.ncbi.nlm.nih.gov/?term=TAF4B	None	None	44241	82
TAFAZZIN	tafazzin, phospholipid-lysophospholipid transacylase	Familial isolated dilated cardiomyopathy?0027293;3-Methylglutaconic aciduria type 2?0005890	https://raresource.nih.gov/literature/gene/TAFAZZIN	6901	ENSG00000102125	11577	https://pubmed.ncbi.nlm.nih.gov/?term=TAFAZZIN	None	None	None	725
TAL1	TAL bHLH transcription factor 1, erythroid differentiation factor	Acute lymphoid leukemia?0000522	https://raresource.nih.gov/literature/gene/TAL1	6886	ENSG00000162367	11556	https://pubmed.ncbi.nlm.nih.gov/?term=TAL1	None	None	7763	1570
TAL2	TAL bHLH transcription factor 2	Acute lymphoid leukemia?0000522	https://raresource.nih.gov/literature/gene/TAL2	6887	ENSG00000186051	11557	https://pubmed.ncbi.nlm.nih.gov/?term=TAL2	None	None	1745	59
TALDO1	transaldolase 1	Deficiency of transaldolase?0010445	https://raresource.nih.gov/literature/gene/TALDO1	6888	ENSG00000177156	11559	https://pubmed.ncbi.nlm.nih.gov/?term=TALDO1	None	None	10359	893
TAMM41	TAM41 mitochondrial translocator assembly and maintenance homolog	Combined oxidative phosphorylation deficiency 56?0026698	https://raresource.nih.gov/literature/gene/TAMM41	132001	ENSG00000144559	25187	https://pubmed.ncbi.nlm.nih.gov/?term=TAMM41	None	None	20694	81
TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	Intellectual developmental disorder with autistic features and language delay, with or without seizures?0018522	https://raresource.nih.gov/literature/gene/TANC2	26115	ENSG00000170921	30212	https://pubmed.ncbi.nlm.nih.gov/?term=TANC2	None	None	128643	46
TANGO2	transport and golgi organization 2 homolog	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome?0013423	https://raresource.nih.gov/literature/gene/TANGO2	128989	ENSG00000183597	25439	https://pubmed.ncbi.nlm.nih.gov/?term=TANGO2	None	None	14325	57
TAOK1	TAO kinase 1	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/TAOK1	57551	ENSG00000160551	29259	https://pubmed.ncbi.nlm.nih.gov/?term=TAOK1	None	None	59304	154
TAP1	transporter 1, ATP binding cassette subfamily B member	MHC class I deficiency 1?0027100;MHC class I deficiency?0009548	https://raresource.nih.gov/literature/gene/TAP1	6890	ENSG00000168394	43	https://pubmed.ncbi.nlm.nih.gov/?term=TAP1	None	None	3455	1415
TAP2	transporter 2, ATP binding cassette subfamily B member	MHC class I deficiency 2?0027104;MHC class I deficiency?0009548	https://raresource.nih.gov/literature/gene/TAP2	6891	ENSG00000204267	44	https://pubmed.ncbi.nlm.nih.gov/?term=TAP2	None	None	7125	922
TAPBP	TAP binding protein	MHC class I deficiency 3?0027105;MHC class I deficiency?0009548	https://raresource.nih.gov/literature/gene/TAPBP	6892	ENSG00000231925	11566	https://pubmed.ncbi.nlm.nih.gov/?term=TAPBP	None	None	6247	643
TAPT1	transmembrane anterior posterior transformation 1	Complex lethal osteochondrodysplasia?0017807	https://raresource.nih.gov/literature/gene/TAPT1	202018	ENSG00000169762	26887	https://pubmed.ncbi.nlm.nih.gov/?term=TAPT1	None	None	25764	23
TARDBP	TAR DNA binding protein	Frontotemporal dementia with motor neuron disease?0017273;Amyotrophic lateral sclerosis?0005786;Amyotrophic lateral sclerosis type 10?0015540	https://raresource.nih.gov/literature/gene/TARDBP	23435	ENSG00000120948	11571	https://pubmed.ncbi.nlm.nih.gov/?term=TARDBP	None	None	6824	5472
TARS1	threonyl-tRNA synthetase 1	Trichothiodystrophy?0012109;Trichothiodystrophy 7, nonphotosensitive?0016362	https://raresource.nih.gov/literature/gene/TARS1	6897	ENSG00000113407	11572	https://pubmed.ncbi.nlm.nih.gov/?term=TARS1	None	None	12956	147
TARS2	threonyl-tRNA synthetase 2, mitochondrial	Combined oxidative phosphorylation defect type 21?0017700	https://raresource.nih.gov/literature/gene/TARS2	80222	ENSG00000143374	30740	https://pubmed.ncbi.nlm.nih.gov/?term=TARS2	None	None	10409	117
TAT	tyrosine aminotransferase	Tyrosinemia type II?0003105	https://raresource.nih.gov/literature/gene/TAT	6898	ENSG00000198650	11573	https://pubmed.ncbi.nlm.nih.gov/?term=TAT	None	None	5241	13165
TBC1D20	TBC1 domain family member 20	Warburg micro syndrome?0005534;Warburg micro syndrome 4?0015998	https://raresource.nih.gov/literature/gene/TBC1D20	128637	ENSG00000125875	16133	https://pubmed.ncbi.nlm.nih.gov/?term=TBC1D20	None	None	8896	34
TBC1D23	TBC1 domain family member 23	Pontocerebellar hypoplasia, type 11?0018029	https://raresource.nih.gov/literature/gene/TBC1D23	55773	ENSG00000036054	25622	https://pubmed.ncbi.nlm.nih.gov/?term=TBC1D23	None	None	22566	26
TBC1D24	TBC1 domain family member 24	Hearing loss, autosomal recessive?0018117;Developmental and epileptic encephalopathy, 16?0015945;DOORS syndrome?0001685;Malignant migrating partial seizures of infancy?0012919;Progressive myoclonic epilepsy with dystonia?0017522;Autosomal dominant nonsyndromic hearing loss 65?0018140;Autosomal dominant nonsyndromic hearing loss?0016791;Autosomal recessive nonsyndromic hearing loss 86?0022643;Focal epilepsy-intellectual disability-cerebro-cerebellar malformation?0021522;Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome?0017003;Familial infantile myoclonic epilepsy?0017521	https://raresource.nih.gov/literature/gene/TBC1D24	57465	ENSG00000162065	29203	https://pubmed.ncbi.nlm.nih.gov/?term=TBC1D24	None	None	7429	220
TBC1D32	TBC1 domain family member 32	Orofaciodigital syndrome IX?0010520	https://raresource.nih.gov/literature/gene/TBC1D32	221322	ENSG00000146350	21485	https://pubmed.ncbi.nlm.nih.gov/?term=TBC1D32	None	None	89727	28
TBC1D4	TBC1 domain family member 4	Diabetes mellitus, noninsulin-dependent, 5?0024993	https://raresource.nih.gov/literature/gene/TBC1D4	9882	ENSG00000136111	19165	https://pubmed.ncbi.nlm.nih.gov/?term=TBC1D4	None	None	46327	945
TBC1D7	TBC1 domain family member 7	Megalencephaly?0016601;Macrocephaly/megalencephaly syndrome, autosomal recessive?0024680	https://raresource.nih.gov/literature/gene/TBC1D7	51256	ENSG00000145979	21066	https://pubmed.ncbi.nlm.nih.gov/?term=TBC1D7	None	None	17629	41
TBC1D8B	TBC1 domain family member 8B	Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Nephrotic syndrome, type 20?0015285	https://raresource.nih.gov/literature/gene/TBC1D8B	54885	ENSG00000133138	24715	https://pubmed.ncbi.nlm.nih.gov/?term=TBC1D8B	None	None	13179	15
TBCD	tubulin folding cofactor D	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome?0017911	https://raresource.nih.gov/literature/gene/TBCD	6904	ENSG00000141556	11581	https://pubmed.ncbi.nlm.nih.gov/?term=TBCD	None	None	59775	79
TBCE	tubulin folding cofactor E	Hypoparathyroidism-retardation-dysmorphism syndrome?0000411;Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome?0017914;Autosomal recessive Kenny-Caffey syndrome?0008367	https://raresource.nih.gov/literature/gene/TBCE	6905	ENSG00000284770	11582	https://pubmed.ncbi.nlm.nih.gov/?term=TBCE	None	None	50974	382
TBCK	TBC1 domain containing kinase	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3?0017896	https://raresource.nih.gov/literature/gene/TBCK	93627	ENSG00000145348	28261	https://pubmed.ncbi.nlm.nih.gov/?term=TBCK	None	None	98944	42
TBK1	TANK binding kinase 1	Frontotemporal dementia with motor neuron disease?0017273;Frontotemporal dementia and/or amyotrophic lateral sclerosis 4?0018398	https://raresource.nih.gov/literature/gene/TBK1	29110	ENSG00000183735	11584	https://pubmed.ncbi.nlm.nih.gov/?term=TBK1	None	None	13178	2934
TBL1X	transducin beta like 1 X-linked	Hypothyroidism, congenital, nongoitrous, 8?0025486	https://raresource.nih.gov/literature/gene/TBL1X	6907	ENSG00000101849	11585	https://pubmed.ncbi.nlm.nih.gov/?term=TBL1X	None	None	53024	154
TBL1XR1	TBL1X/Y related 1	Intellectual disability, autosomal dominant 41?0025023;Pierpont syndrome?0017885	https://raresource.nih.gov/literature/gene/TBL1XR1	79718	ENSG00000177565	29529	https://pubmed.ncbi.nlm.nih.gov/?term=TBL1XR1	None	None	84608	373
TBL1Y	transducin beta like 1 Y-linked	Deafness, Y-linked 2?0025493	https://raresource.nih.gov/literature/gene/TBL1Y	90665	ENSG00000092377	18502	https://pubmed.ncbi.nlm.nih.gov/?term=TBL1Y	None	None	None	83
TBP	TATA-box binding protein	Spinocerebellar ataxia type 17?0010469;Parkinson disease, late-onset?0017684	https://raresource.nih.gov/literature/gene/TBP	6908	ENSG00000112592	11588	https://pubmed.ncbi.nlm.nih.gov/?term=TBP	None	None	7972	4063
TBX1	T-box transcription factor 1	Velocardiofacial syndrome?0015123;Tetralogy of Fallot?0002245;Combined immunodeficiency due to TBX1 deficiency?0027409;22q11.2 deletion syndrome?0010299;Conotruncal heart malformations?0008189;Persistent truncus arteriosus?0016627	https://raresource.nih.gov/literature/gene/TBX1	6899	ENSG00000184058	11592	https://pubmed.ncbi.nlm.nih.gov/?term=TBX1	None	None	9444	2034
TBX15	T-box transcription factor 15	Pelviscapular dysplasia?0001555	https://raresource.nih.gov/literature/gene/TBX15	6913	ENSG00000092607	11594	https://pubmed.ncbi.nlm.nih.gov/?term=TBX15	None	None	40663	123
TBX18	T-box transcription factor 18	Congenital anomalies of kidney and urinary tract 2?0025500	https://raresource.nih.gov/literature/gene/TBX18	9096	ENSG00000112837	11595	https://pubmed.ncbi.nlm.nih.gov/?term=TBX18	None	None	31966	226
TBX19	T-box transcription factor 19	Congenital isolated adrenocorticotropic hormone deficiency?0005727	https://raresource.nih.gov/literature/gene/TBX19	9095	ENSG00000143178	11596	https://pubmed.ncbi.nlm.nih.gov/?term=TBX19	None	None	13608	202
TBX20	T-box transcription factor 20	Atrial septal defect, ostium secundum type?0005865;Left ventricular noncompaction?0010985;Tetralogy of Fallot?0002245;Atrial septal defect 4?0015512	https://raresource.nih.gov/literature/gene/TBX20	57057	ENSG00000164532	11598	https://pubmed.ncbi.nlm.nih.gov/?term=TBX20	None	None	18184	260
TBX22	T-box transcription factor 22	Abruzzo-Erickson syndrome?0000360;Cleft palate with or without ankyloglossia, X-linked?0001394	https://raresource.nih.gov/literature/gene/TBX22	50945	ENSG00000122145	11600	https://pubmed.ncbi.nlm.nih.gov/?term=TBX22	None	None	4445	489
TBX3	T-box transcription factor 3	Ulnar-mammary syndrome?0000118	https://raresource.nih.gov/literature/gene/TBX3	6926	ENSG00000135111	11602	https://pubmed.ncbi.nlm.nih.gov/?term=TBX3	None	None	5893	654
TBX4	T-box transcription factor 4	Heritable pulmonary arterial hypertension?0011914;Coxopodopatellar syndrome?0003030;Autosomal recessive amelia?0016554;Tetraamelia-multiple malformations syndrome?0000386;Congenital alveolar dysplasia due to TBX4?0026045;Acinar dysplasia caused by mutation in TBX4?0026300	https://raresource.nih.gov/literature/gene/TBX4	9496	ENSG00000121075	11603	https://pubmed.ncbi.nlm.nih.gov/?term=TBX4	None	None	9522	969
TBX5	T-box transcription factor 5	Holt-Oram syndrome?0006666;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/TBX5	6910	ENSG00000089225	11604	https://pubmed.ncbi.nlm.nih.gov/?term=TBX5	None	None	16253	1189
TBX6	T-box transcription factor 6	Autosomal dominant spondylocostal dysostosis?0012806;Spondylocostal dysostosis 5?0024556;Autosomal recessive spondylocostal dysostosis?0006798	https://raresource.nih.gov/literature/gene/TBX6	6911	ENSG00000149922	11605	https://pubmed.ncbi.nlm.nih.gov/?term=TBX6	None	None	2513	233
TBXA2R	thromboxane A2 receptor	Bleeding diathesis due to thromboxane synthesis deficiency?0017132	https://raresource.nih.gov/literature/gene/TBXA2R	6915	ENSG00000006638	11608	https://pubmed.ncbi.nlm.nih.gov/?term=TBXA2R	None	None	6636	837
TBXAS1	thromboxane A synthase 1	Ghosal hematodiaphyseal dysplasia?0010297	https://raresource.nih.gov/literature/gene/TBXAS1	6916	ENSG00000059377	11609	https://pubmed.ncbi.nlm.nih.gov/?term=TBXAS1	None	None	88633	3703
TBXT	T-box transcription factor T	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome?0017642	https://raresource.nih.gov/literature/gene/TBXT	6862	ENSG00000164458	11515	https://pubmed.ncbi.nlm.nih.gov/?term=TBXT	None	None	6019	6059
TCAP	titin-cap	Hypertrophic cardiomyopathy 25?0024827;Autosomal recessive limb-girdle muscular dystrophy type 2G?0010471;Neuromuscular disease caused by qualitative or quantitative defects of telethonin?0020431;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/TCAP	8557	ENSG00000173991	11610	https://pubmed.ncbi.nlm.nih.gov/?term=TCAP	None	None	933	277
TCF12	transcription factor 12	TCF12-related craniosynostosis?0018047;Hypogonadotropic hypogonadism 26 with or without anosmia?0025597	https://raresource.nih.gov/literature/gene/TCF12	6938	ENSG00000140262	11623	https://pubmed.ncbi.nlm.nih.gov/?term=TCF12	None	None	136622	540
TCF20	transcription factor 20	Developmental delay with variable intellectual impairment and behavioral abnormalities?0018517	https://raresource.nih.gov/literature/gene/TCF20	6942	ENSG00000100207	11631	https://pubmed.ncbi.nlm.nih.gov/?term=TCF20	None	None	22995	117
TCF3	transcription factor 3	Agammaglobulinemia 8, autosomal dominant?0016171;Agammaglobulinemia 8b, autosomal recessive?0026674;Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/TCF3	6929	ENSG00000071564	11633	https://pubmed.ncbi.nlm.nih.gov/?term=TCF3	None	None	25745	4776
TCF4	transcription factor 4	Fuchs' endothelial dystrophy?0010018;Corneal dystrophy, Fuchs endothelial, 3?0018218;Pitt-Hopkins syndrome?0004372;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/TCF4	6925	ENSG00000196628	11634	https://pubmed.ncbi.nlm.nih.gov/?term=TCF4	None	None	96324	2597
TCHH	trichohyalin	Uncombable hair syndrome 3?0016217	https://raresource.nih.gov/literature/gene/TCHH	7062	ENSG00000159450	11791	https://pubmed.ncbi.nlm.nih.gov/?term=TCHH	None	None	7558	234
TCIRG1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	Dysosteosclerosis?0002012;Autosomal recessive osteopetrosis?0015012;Autosomal dominant severe congenital neutropenia?0009558;Autosomal recessive osteopetrosis 1?0002579	https://raresource.nih.gov/literature/gene/TCIRG1	10312	ENSG00000110719	11647	https://pubmed.ncbi.nlm.nih.gov/?term=TCIRG1	None	None	6735	1427
TCN2	transcobalamin 2	Transcobalamin II deficiency?0012338	https://raresource.nih.gov/literature/gene/TCN2	6948	ENSG00000185339	11653	https://pubmed.ncbi.nlm.nih.gov/?term=TCN2	None	None	9161	4422
TCOF1	treacle ribosome biogenesis factor 1	Treacher Collins syndrome 1?0024589;Treacher Collins syndrome?0009124	https://raresource.nih.gov/literature/gene/TCOF1	6949	ENSG00000070814	11654	https://pubmed.ncbi.nlm.nih.gov/?term=TCOF1	None	None	17792	476
TCTN1	tectonic family member 1	Joubert syndrome?0006802;Joubert syndrome 13?0015765;Meckel-Gruber syndrome?0003436	https://raresource.nih.gov/literature/gene/TCTN1	79600	ENSG00000204852	26113	https://pubmed.ncbi.nlm.nih.gov/?term=TCTN1	None	None	8888	41
TCTN2	tectonic family member 2	Joubert syndrome?0006802;Meckel syndrome, type 8?0015727;Meckel-Gruber syndrome?0003436;Joubert syndrome 24?0016150	https://raresource.nih.gov/literature/gene/TCTN2	79867	ENSG00000168778	25774	https://pubmed.ncbi.nlm.nih.gov/?term=TCTN2	None	None	11652	31
TCTN3	tectonic family member 3	Joubert syndrome?0006802;Orofacial-digital syndrome IV?0000816;Joubert syndrome 18?0015843;Meckel-Gruber syndrome?0003436	https://raresource.nih.gov/literature/gene/TCTN3	26123	ENSG00000119977	24519	https://pubmed.ncbi.nlm.nih.gov/?term=TCTN3	None	None	13220	21
TDO2	tryptophan 2,3-dioxygenase	Familial hypertryptophanemia?0002871	https://raresource.nih.gov/literature/gene/TDO2	6999	ENSG00000151790	11708	https://pubmed.ncbi.nlm.nih.gov/?term=TDO2	None	None	22089	3204
TDP1	tyrosyl-DNA phosphodiesterase 1	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1?0010000	https://raresource.nih.gov/literature/gene/TDP1	55775	ENSG00000042088	18884	https://pubmed.ncbi.nlm.nih.gov/?term=TDP1	None	None	22847	423
TDP2	tyrosyl-DNA phosphodiesterase 2	Spinocerebellar ataxia, autosomal recessive 23?0017677	https://raresource.nih.gov/literature/gene/TDP2	51567	ENSG00000111802	17768	https://pubmed.ncbi.nlm.nih.gov/?term=TDP2	None	None	7763	201
TDRD9	tudor domain containing 9	Spermatogenic failure 30?0016291	https://raresource.nih.gov/literature/gene/TDRD9	122402	ENSG00000156414	20122	https://pubmed.ncbi.nlm.nih.gov/?term=TDRD9	None	None	43605	70
TEAD1	TEA domain transcription factor 1	Helicoid peripapillary chorioretinal degeneration?0016757	https://raresource.nih.gov/literature/gene/TEAD1	7003	ENSG00000187079	11714	https://pubmed.ncbi.nlm.nih.gov/?term=TEAD1	None	None	103622	1654
TECPR2	tectonin beta-propeller repeat containing 2	Hereditary spastic paraplegia 49?0013568	https://raresource.nih.gov/literature/gene/TECPR2	9895	ENSG00000196663	19957	https://pubmed.ncbi.nlm.nih.gov/?term=TECPR2	None	None	39357	39
TECR	trans-2,3-enoyl-CoA reductase	Autosomal recessive non-syndromic intellectual disability?0018643;Intellectual disability, autosomal recessive 14?0022549	https://raresource.nih.gov/literature/gene/TECR	9524	ENSG00000099797	4551	https://pubmed.ncbi.nlm.nih.gov/?term=TECR	None	None	16574	371
TECRL	trans-2,3-enoyl-CoA reductase like	Catecholaminergic polymorphic ventricular tachycardia 3?0015744;Catecholaminergic polymorphic ventricular tachycardia?0004421	https://raresource.nih.gov/literature/gene/TECRL	253017	ENSG00000205678	27365	https://pubmed.ncbi.nlm.nih.gov/?term=TECRL	None	None	58932	81
TECTA	tectorin alpha	Hearing loss, autosomal recessive?0018117;Autosomal dominant nonsyndromic hearing loss 12?0018107;Autosomal dominant nonsyndromic hearing loss?0016791;Autosomal recessive nonsyndromic hearing loss 21?0022595	https://raresource.nih.gov/literature/gene/TECTA	7007	ENSG00000109927	11720	https://pubmed.ncbi.nlm.nih.gov/?term=TECTA	None	None	23360	167
TEFM	transcription elongation factor, mitochondrial	Combined oxidative phosphorylation deficiency 58?0026857	https://raresource.nih.gov/literature/gene/TEFM	79736	ENSG00000172171	26223	https://pubmed.ncbi.nlm.nih.gov/?term=TEFM	None	None	2868	34
TEK	TEK receptor tyrosine kinase	TEK-related primary glaucoma?0026473;Blue rubber bleb nevus?0005940;Glaucoma 3, primary congenital, E?0018227;Multiple cutaneous and mucosal venous malformations?0016600;Glaucoma 3, primary infantile, B?0002490	https://raresource.nih.gov/literature/gene/TEK	7010	ENSG00000120156	11724	https://pubmed.ncbi.nlm.nih.gov/?term=TEK	None	None	53878	3606
TELO2	telomere maintenance 2	TELO2-related intellectual disability-neurodevelopmental disorder?0017898	https://raresource.nih.gov/literature/gene/TELO2	9894	ENSG00000100726	29099	https://pubmed.ncbi.nlm.nih.gov/?term=TELO2	None	None	7144	220
TENM1	teneurin transmembrane protein 1	Congenital anosmia?0009486	https://raresource.nih.gov/literature/gene/TENM1	10178	ENSG00000009694	8117	https://pubmed.ncbi.nlm.nih.gov/?term=TENM1	None	None	93522	274
TENM3	teneurin transmembrane protein 3	Microphthalmia, isolated, with coloboma?0003644;Microphthalmia, isolated, with coloboma 9?0015909	https://raresource.nih.gov/literature/gene/TENM3	55714	ENSG00000218336	29944	https://pubmed.ncbi.nlm.nih.gov/?term=TENM3	None	None	235928	93
TENT5A	terminal nucleotidyltransferase 5A	Osteogenesis imperfecta, type 18?0025898	https://raresource.nih.gov/literature/gene/TENT5A	55603	ENSG00000112773	18345	https://pubmed.ncbi.nlm.nih.gov/?term=TENT5A	None	None	4720	51
TERC	telomerase RNA component	Dyskeratosis congenita?0010905;Dyskeratosis congenita, autosomal dominant 1?0006299;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2?0024960;Idiopathic Pulmonary Fibrosis?0027547	https://raresource.nih.gov/literature/gene/TERC	7012	ENSG00000270141	11727	https://pubmed.ncbi.nlm.nih.gov/?term=TERC	None	None	23	4867
TERT	telomerase reverse transcriptase	Dyskeratosis congenita?0010905;Aplastic anemia?0020234;Dyskeratosis congenita, autosomal dominant 2?0015741;Adrenal cortex carcinoma?0000558;Dyskeratosis congenita, autosomal dominant 1?0006299;Acute myeloid leukemia?0012757;Meningioma?0007015;Idiopathic Pulmonary Fibrosis?0027547;Hoyeraal-Hreidarsson syndrome?0000346;Differentiated thyroid carcinoma?0012027;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1?0024959	https://raresource.nih.gov/literature/gene/TERT	7015	ENSG00000164362	11730	https://pubmed.ncbi.nlm.nih.gov/?term=TERT	None	None	35311	7014
TET2	tet methylcytosine dioxygenase 2	Myelodysplastic syndrome?0007132;Immunodeficiency 75?0018194;Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease?0019596;Aggressive systemic mastocytosis?0019597;Acute myeloid leukemia with multilineage dysplasia?0012761;Myelodysplastic syndrome with excess blasts-1?0019737;Myelodysplastic syndrome with ring sideroblasts?0008249;Myelodysplastic syndrome with excess blasts-2?0019738;Refractory cytopenia with unilineage dysplasia?0019585	https://raresource.nih.gov/literature/gene/TET2	54790	ENSG00000168769	25941	https://pubmed.ncbi.nlm.nih.gov/?term=TET2	None	None	57838	3447
TET3	tet methylcytosine dioxygenase 3	Beck-Fahrner syndrome?0027367	https://raresource.nih.gov/literature/gene/TET3	200424	ENSG00000187605	28313	https://pubmed.ncbi.nlm.nih.gov/?term=TET3	None	None	47495	667
TEX11	testis expressed 11	Spermatogenic failure, X-linked, 2?0015302	https://raresource.nih.gov/literature/gene/TEX11	56159	ENSG00000120498	11733	https://pubmed.ncbi.nlm.nih.gov/?term=TEX11	None	None	73367	312
TEX14	testis expressed 14, intercellular bridge forming factor	Spermatogenic failure 23?0016246	https://raresource.nih.gov/literature/gene/TEX14	56155	ENSG00000121101	11737	https://pubmed.ncbi.nlm.nih.gov/?term=TEX14	None	None	49207	68
TEX15	testis expressed 15, meiosis and synapsis associated	Spermatogenic failure 25?0016274	https://raresource.nih.gov/literature/gene/TEX15	56154	ENSG00000133863	11738	https://pubmed.ncbi.nlm.nih.gov/?term=TEX15	None	None	34815	38
TF	transferrin	Atransferrinemia?0009595	https://raresource.nih.gov/literature/gene/TF	7018	ENSG00000091513	11740	https://pubmed.ncbi.nlm.nih.gov/?term=TF	None	None	14348	34199
TFAM	transcription factor A, mitochondrial	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)?0025037	https://raresource.nih.gov/literature/gene/TFAM	7019	ENSG00000108064	11741	https://pubmed.ncbi.nlm.nih.gov/?term=TFAM	None	None	6335	2950
TFAP2A	transcription factor AP-2 alpha	Branchiooculofacial syndrome?0003212	https://raresource.nih.gov/literature/gene/TFAP2A	7020	ENSG00000137203	11742	https://pubmed.ncbi.nlm.nih.gov/?term=TFAP2A	None	None	11771	2475
TFAP2B	transcription factor AP-2 beta	Patent ductus arteriosus 2?0018489;Tetralogy of Fallot?0002245;Char syndrome?0001237	https://raresource.nih.gov/literature/gene/TFAP2B	7021	ENSG00000008196	11743	https://pubmed.ncbi.nlm.nih.gov/?term=TFAP2B	None	None	12950	283
TFE3	transcription factor binding to IGHM enhancer 3	Renal cell carcinoma, Xp11-associated?0018445	https://raresource.nih.gov/literature/gene/TFE3	7030	ENSG00000068323	11752	https://pubmed.ncbi.nlm.nih.gov/?term=TFE3	None	None	5351	1505
TFG	trafficking from ER to golgi regulator	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation?0021815;Hereditary spastic paraplegia 57?0017712;Hereditary motor and sensory neuropathy, Okinawa type?0010131	https://raresource.nih.gov/literature/gene/TFG	10342	ENSG00000114354	11758	https://pubmed.ncbi.nlm.nih.gov/?term=TFG	None	None	15965	465
TFR2	transferrin receptor 2	Digenic hemochromatosis?0026922;Hemochromatosis type 3?0010093	https://raresource.nih.gov/literature/gene/TFR2	7036	ENSG00000106327	11762	https://pubmed.ncbi.nlm.nih.gov/?term=TFR2	None	None	10615	572
TFRC	transferrin receptor	TFRC-related combined immunodeficiency?0017849	https://raresource.nih.gov/literature/gene/TFRC	7037	ENSG00000072274	11763	https://pubmed.ncbi.nlm.nih.gov/?term=TFRC	None	None	16820	13621
TG	thyroglobulin	Iodotyrosyl coupling defect?0018190;Familial thyroid dyshormonogenesis?0016843	https://raresource.nih.gov/literature/gene/TG	7038	ENSG00000042832	11764	https://pubmed.ncbi.nlm.nih.gov/?term=TG	None	None	100157	15623
TGDS	TDP-glucose 4,6-dehydratase	Catel-Manzke syndrome?0000028	https://raresource.nih.gov/literature/gene/TGDS	23483	ENSG00000088451	20324	https://pubmed.ncbi.nlm.nih.gov/?term=TGDS	None	None	6751	39
TGFA	transforming growth factor alpha	Hypodontia?0016908	https://raresource.nih.gov/literature/gene/TGFA	7039	ENSG00000163235	11765	https://pubmed.ncbi.nlm.nih.gov/?term=TGFA	None	None	39344	1268
TGFB1	transforming growth factor beta 1	Inflammatory bowel disease, immunodeficiency, and encephalopathy?0018000;Camurati-Engelmann disease?0001072	https://raresource.nih.gov/literature/gene/TGFB1	7040	ENSG00000105329	11766	https://pubmed.ncbi.nlm.nih.gov/?term=TGFB1	None	None	7741	28422
TGFB2	transforming growth factor beta 2	Familial thoracic aortic aneurysm and aortic dissection?0002249;Loeys-Dietz syndrome?0010788;Ehlers-Danlos syndrome, type 4?0002082;Loeys-Dietz syndrome 4?0010588	https://raresource.nih.gov/literature/gene/TGFB2	7042	ENSG00000092969	11768	https://pubmed.ncbi.nlm.nih.gov/?term=TGFB2	None	None	38403	2140
TGFB3	transforming growth factor beta 3	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form?0017346;Loeys-Dietz syndrome?0010788;Arrhythmogenic right ventricular dysplasia 1?0024526;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form?0017347;Familial thoracic aortic aneurysm and aortic dissection?0002249;Ehlers-Danlos syndrome, type 4?0002082;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form?0017345;Rienhoff syndrome?0012356	https://raresource.nih.gov/literature/gene/TGFB3	7043	ENSG00000119699	11769	https://pubmed.ncbi.nlm.nih.gov/?term=TGFB3	None	None	6391	1263
TGFBI	transforming growth factor beta induced	Reis-Bucklers' corneal dystrophy?0009276;Avellino corneal dystrophy?0009278;Corneal dystrophy, lattice type 3A?0010320;Thiel-Behnke corneal dystrophy?0009275;Lattice corneal dystrophy Type I?0009678;Epithelial basement membrane dystrophy?0009732;Epithelial-stromal TGFBI dystrophy?0022827;Groenouw corneal dystrophy type I?0009677	https://raresource.nih.gov/literature/gene/TGFBI	7045	ENSG00000120708	11771	https://pubmed.ncbi.nlm.nih.gov/?term=TGFBI	None	None	13856	1334
TGFBR1	transforming growth factor beta receptor 1	Loeys-Dietz syndrome?0010788;Familial thoracic aortic aneurysm and aortic dissection?0002249;Ehlers-Danlos syndrome, type 4?0002082;Loeys-Dietz syndrome 1?0009458;Multiple self-healing squamous epithelioma?0003090	https://raresource.nih.gov/literature/gene/TGFBR1	7046	ENSG00000106799	11772	https://pubmed.ncbi.nlm.nih.gov/?term=TGFBR1	None	None	20137	2491
TGFBR2	transforming growth factor beta receptor 2	Loeys-Dietz syndrome 2?0010586;Loeys-Dietz syndrome?0010788;Colorectal cancer, hereditary nonpolyposis, type 6?0015789;Familial thoracic aortic aneurysm and aortic dissection?0002249;Ehlers-Danlos syndrome, type 4?0002082;Carcinoma of esophagus?0006383	https://raresource.nih.gov/literature/gene/TGFBR2	7048	ENSG00000163513	11773	https://pubmed.ncbi.nlm.nih.gov/?term=TGFBR2	None	None	40361	2137
TGIF1	TGFB induced factor homeobox 1	Microform holoprosencephaly?0017290;Lobar holoprosencephaly?0016830;Holoprosencephaly 4?0024573;Alobar holoprosencephaly?0016831	https://raresource.nih.gov/literature/gene/TGIF1	7050	ENSG00000177426	11776	https://pubmed.ncbi.nlm.nih.gov/?term=TGIF1	None	None	15600	382
TGM1	transglutaminase 1	Self-healing collodion baby?0017303;Congenital nonbullous ichthyosiform erythroderma?0009736;Acral self-healing collodion baby?0021108;Bathing suit ichthyosis?0016938;Autosomal recessive congenital ichthyosis 1?0003170;Lamellar ichthyosis?0010803	https://raresource.nih.gov/literature/gene/TGM1	7051	ENSG00000092295	11777	https://pubmed.ncbi.nlm.nih.gov/?term=TGM1	None	None	5091	1573
TGM3	transglutaminase 3	Uncombable hair syndrome?0005404;Uncombable hair syndrome 2?0016216	https://raresource.nih.gov/literature/gene/TGM3	7053	ENSG00000125780	11779	https://pubmed.ncbi.nlm.nih.gov/?term=TGM3	None	None	17	198
TGM5	transglutaminase 5	Acral peeling skin syndrome?0012863	https://raresource.nih.gov/literature/gene/TGM5	9333	ENSG00000104055	11781	https://pubmed.ncbi.nlm.nih.gov/?term=TGM5	None	None	9065	117
TGM6	transglutaminase 6	Inherited acute myeloid leukemia?0017450;Spinocerebellar ataxia type 35?0012366	https://raresource.nih.gov/literature/gene/TGM6	343641	ENSG00000166948	16255	https://pubmed.ncbi.nlm.nih.gov/?term=TGM6	None	None	14336	92
TH	tyrosine hydroxylase	Autosomal recessive DOPA responsive dystonia?0001902	https://raresource.nih.gov/literature/gene/TH	7054	ENSG00000180176	11782	https://pubmed.ncbi.nlm.nih.gov/?term=TH	None	None	4935	22891
THAP1	THAP domain containing 1	Torsion dystonia 6?0009630	https://raresource.nih.gov/literature/gene/THAP1	55145	ENSG00000131931	20856	https://pubmed.ncbi.nlm.nih.gov/?term=THAP1	None	None	4284	245
THAP11	THAP domain containing 11	Methylmalonic aciduria and homocystinuria, cb1L type?0027317;Spinocerebellar ataxia 51?0027318	https://raresource.nih.gov/literature/gene/THAP11	57215	ENSG00000168286	23194	https://pubmed.ncbi.nlm.nih.gov/?term=THAP11	None	None	628	73
THBD	thrombomodulin	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly?0018556;Thrombomodulin-related bleeding disorder?0017726	https://raresource.nih.gov/literature/gene/THBD	7056	ENSG00000178726	11784	https://pubmed.ncbi.nlm.nih.gov/?term=THBD	None	None	2880	5875
THBS2	thrombospondin 2	Ehlers-Danlos syndrome, classic-like, 3?0027110	https://raresource.nih.gov/literature/gene/THBS2	7058	ENSG00000186340	11786	https://pubmed.ncbi.nlm.nih.gov/?term=THBS2	None	None	22721	882
THG1L	tRNA-histidine guanylyltransferase 1 like	Spinocerebellar ataxia, autosomal recessive 28?0025776	https://raresource.nih.gov/literature/gene/THG1L	54974	ENSG00000113272	26053	https://pubmed.ncbi.nlm.nih.gov/?term=THG1L	None	None	4815	61
THOC1	THO complex subunit 1	Hearing loss, autosomal dominant 86?0026736	https://raresource.nih.gov/literature/gene/THOC1	9984	ENSG00000079134	19070	https://pubmed.ncbi.nlm.nih.gov/?term=THOC1	None	None	12346	350
THOC2	THO complex subunit 2	X-linked intellectual disability-short stature-overweight syndrome?0017800;Arthrogryposis multiplex congenita 7, X-linked?0027323	https://raresource.nih.gov/literature/gene/THOC2	57187	ENSG00000125676	19073	https://pubmed.ncbi.nlm.nih.gov/?term=THOC2	None	None	23848	73
THOC6	THO complex subunit 6	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome?0017558	https://raresource.nih.gov/literature/gene/THOC6	79228	ENSG00000131652	28369	https://pubmed.ncbi.nlm.nih.gov/?term=THOC6	None	None	1520	28
THPO	thrombopoietin	Hereditary thrombocytosis with transverse limb defect?0021487;Familial thrombocytosis?0016688;Thrombocythemia 1?0024630;Thrombocytopenia 9?0026866	https://raresource.nih.gov/literature/gene/THPO	7066	ENSG00000090534	11795	https://pubmed.ncbi.nlm.nih.gov/?term=THPO	None	None	3269	6268
THRA	thyroid hormone receptor alpha	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha?0022275;Congenital nongoitrous hypothyroidism 6?0024946	https://raresource.nih.gov/literature/gene/THRA	7067	ENSG00000126351	11796	https://pubmed.ncbi.nlm.nih.gov/?term=THRA	None	None	12051	1126
THRB	thyroid hormone receptor beta	Selective pituitary resistance to thyroid hormone?0024576;Thyroid hormone resistance, generalized, autosomal dominant?0024633;Thyroid hormone resistance, generalized, autosomal recessive?0024711	https://raresource.nih.gov/literature/gene/THRB	7068	ENSG00000151090	11799	https://pubmed.ncbi.nlm.nih.gov/?term=THRB	None	None	145614	1676
THSD1	thrombospondin type 1 domain containing 1	Intracranial berry aneurysm?0017161;Aneurysm, intracranial berry, 12?0018330;Lymphatic malformation 13?0026725;Non-immune hydrops fetalis?0017580	https://raresource.nih.gov/literature/gene/THSD1	55901	ENSG00000136114	17754	https://pubmed.ncbi.nlm.nih.gov/?term=THSD1	None	None	13070	39
THSD4	thrombospondin type 1 domain containing 4	Familial thoracic aortic aneurysm and aortic dissection?0002249;Ehlers-Danlos syndrome, type 4?0002082;Aortic aneurysm, familial thoracic 12?0025627	https://raresource.nih.gov/literature/gene/THSD4	79875	ENSG00000187720	25835	https://pubmed.ncbi.nlm.nih.gov/?term=THSD4	None	None	175744	58
TIA1	TIA1 cytotoxic granule associated RNA binding protein	Welander distal myopathy?0005552;Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia?0016425	https://raresource.nih.gov/literature/gene/TIA1	7072	ENSG00000116001	11802	https://pubmed.ncbi.nlm.nih.gov/?term=TIA1	None	None	18441	174
TIE1	tyrosine kinase with immunoglobulin like and EGF like domains 1	Lymphatic malformation 11?0025535	https://raresource.nih.gov/literature/gene/TIE1	7075	ENSG00000066056	11809	https://pubmed.ncbi.nlm.nih.gov/?term=TIE1	None	None	9278	571
TIMELESS	timeless circadian regulator	Advance sleep phase syndrome, familial, 4?0025682	https://raresource.nih.gov/literature/gene/TIMELESS	8914	ENSG00000111602	11813	https://pubmed.ncbi.nlm.nih.gov/?term=TIMELESS	None	None	11390	1512
TIMM22	translocase of inner mitochondrial membrane 22	Combined oxidative phosphorylation deficiency 43?0025509	https://raresource.nih.gov/literature/gene/TIMM22	29928	ENSG00000177370	17317	https://pubmed.ncbi.nlm.nih.gov/?term=TIMM22	None	None	3096	78
TIMM50	translocase of inner mitochondrial membrane 50	3-methylglutaconic aciduria type 9?0017940	https://raresource.nih.gov/literature/gene/TIMM50	92609	ENSG00000105197	23656	https://pubmed.ncbi.nlm.nih.gov/?term=TIMM50	None	None	7124	83
TIMM8A	translocase of inner mitochondrial membrane 8A	Deafness dystonia syndrome?0008331	https://raresource.nih.gov/literature/gene/TIMM8A	1678	ENSG00000126953	11817	https://pubmed.ncbi.nlm.nih.gov/?term=TIMM8A	None	None	1165	1404
TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 31?0016331	https://raresource.nih.gov/literature/gene/TIMMDC1	51300	ENSG00000113845	1321	https://pubmed.ncbi.nlm.nih.gov/?term=TIMMDC1	None	None	9378	31
TIMP3	TIMP metallopeptidase inhibitor 3	Sorsby fundus dystrophy?0016480	https://raresource.nih.gov/literature/gene/TIMP3	7078	ENSG00000100234	11822	https://pubmed.ncbi.nlm.nih.gov/?term=TIMP3	None	None	345	2471
TINF2	TERF1 interacting nuclear factor 2	Dyskeratosis congenita?0010905;Dyskeratosis congenita, autosomal dominant 3?0015742;Dyskeratosis congenita, autosomal dominant 1?0006299;Hoyeraal-Hreidarsson syndrome?0000346;Revesz syndrome?0004695	https://raresource.nih.gov/literature/gene/TINF2	26277	ENSG00000092330	11824	https://pubmed.ncbi.nlm.nih.gov/?term=TINF2	None	None	2278	9700
TIRAP	TIR domain containing adaptor protein	Malaria?0006961	https://raresource.nih.gov/literature/gene/TIRAP	114609	ENSG00000150455	17192	https://pubmed.ncbi.nlm.nih.gov/?term=TIRAP	None	None	5990	1266
TJP2	tight junction protein 2	Cholestasis, progressive familial intrahepatic, 4?0009803;Hypercholanemia, familial 1?0017173;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/TJP2	9414	ENSG00000119139	11828	https://pubmed.ncbi.nlm.nih.gov/?term=TJP2	None	None	7598	221
TK2	thymidine kinase 2	Autosomal recessive progressive external ophthalmoplegia?0001191;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3?0016183;Mitochondrial DNA depletion syndrome, myopathic form?0017228	https://raresource.nih.gov/literature/gene/TK2	7084	ENSG00000166548	11831	https://pubmed.ncbi.nlm.nih.gov/?term=TK2	None	None	11406	394
TKT	transketolase	Transketolase deficiency?0017894	https://raresource.nih.gov/literature/gene/TKT	7086	ENSG00000163931	11834	https://pubmed.ncbi.nlm.nih.gov/?term=TKT	None	None	14155	6522
TLCD3B	TLC domain containing 3B	Cone-rod dystrophy?0010790;Cone-rod dystrophy 22?0025562	https://raresource.nih.gov/literature/gene/TLCD3B	83723	ENSG00000149926	25295	https://pubmed.ncbi.nlm.nih.gov/?term=TLCD3B	None	None	5104	539
TLE6	TLE family member 6, subcortical maternal complex member	Female infertility due to oocyte meiotic arrest?0017887	https://raresource.nih.gov/literature/gene/TLE6	79816	ENSG00000104953	30788	https://pubmed.ncbi.nlm.nih.gov/?term=TLE6	None	None	8892	57
TLK2	tousled like kinase 2	Intellectual disability, autosomal dominant 57?0025982	https://raresource.nih.gov/literature/gene/TLK2	11011	ENSG00000146872	11842	https://pubmed.ncbi.nlm.nih.gov/?term=TLK2	None	None	42815	72
TLL1	tolloid like 1	Atrial septal defect, ostium secundum type?0005865;Atrial septal defect, ostium primum type?0010695;Tetralogy of Fallot?0002245;Atrial septal defect 6?0024900	https://raresource.nih.gov/literature/gene/TLL1	7092	ENSG00000038295	11843	https://pubmed.ncbi.nlm.nih.gov/?term=TLL1	None	None	89582	303
TLR7	toll like receptor 7	Systemic lupus erythematosus 17?0026655	https://raresource.nih.gov/literature/gene/TLR7	51284	ENSG00000196664	15631	https://pubmed.ncbi.nlm.nih.gov/?term=TLR7	None	None	4902	5282
TLR8	toll like receptor 8	Immunodeficiency 98 with autoinflammation, X-linked?0027130	https://raresource.nih.gov/literature/gene/TLR8	51311	ENSG00000101916	15632	https://pubmed.ncbi.nlm.nih.gov/?term=TLR8	None	None	3697	1530
TMC1	transmembrane channel like 1	Autosomal recessive nonsyndromic hearing loss 7?0022587;Hearing loss, autosomal recessive?0018117;Autosomal dominant nonsyndromic hearing loss?0016791;Autosomal dominant nonsyndromic hearing loss 36?0018115	https://raresource.nih.gov/literature/gene/TMC1	117531	ENSG00000165091	16513	https://pubmed.ncbi.nlm.nih.gov/?term=TMC1	None	None	111616	282
TMC6	transmembrane channel like 6	Epidermodysplasia verruciformis?0006357	https://raresource.nih.gov/literature/gene/TMC6	11322	ENSG00000141524	18021	https://pubmed.ncbi.nlm.nih.gov/?term=TMC6	None	None	10656	156
TMC8	transmembrane channel like 8	Epidermodysplasia verruciformis?0006357	https://raresource.nih.gov/literature/gene/TMC8	147138	ENSG00000167895	20474	https://pubmed.ncbi.nlm.nih.gov/?term=TMC8	None	None	5416	97
TMCO1	transmembrane and coiled-coil domains 1	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1?0001210	https://raresource.nih.gov/literature/gene/TMCO1	54499	ENSG00000143183	18188	https://pubmed.ncbi.nlm.nih.gov/?term=TMCO1	None	None	41174	79
TMEM106B	transmembrane protein 106B	Leukodystrophy, hypomyelinating, 16?0025976	https://raresource.nih.gov/literature/gene/TMEM106B	54664	ENSG00000106460	22407	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM106B	None	None	14697	289
TMEM107	transmembrane protein 107	Meckel-Gruber syndrome?0003436;Meckel syndrome 13?0016236;Orofaciodigital syndrome 16?0025783	https://raresource.nih.gov/literature/gene/TMEM107	84314	ENSG00000179029	28128	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM107	None	None	3973	21
TMEM126A	transmembrane protein 126A	Autosomal recessive optic atrophy, OPA7 type?0017143	https://raresource.nih.gov/literature/gene/TMEM126A	84233	ENSG00000171202	25382	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM126A	None	None	3421	25
TMEM126B	transmembrane protein 126B	Mitochondrial complex I deficiency?0003908;Mitochondrial complex I deficiency, nuclear type 29?0016330	https://raresource.nih.gov/literature/gene/TMEM126B	55863	ENSG00000171204	30883	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM126B	None	None	2627	21
TMEM127	transmembrane protein 127	Pheochromocytoma?0015105	https://raresource.nih.gov/literature/gene/TMEM127	55654	ENSG00000135956	26038	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM127	None	None	7304	143
TMEM132E	transmembrane protein 132E	Hearing loss, autosomal recessive?0018117;Hearing loss, autosomal recessive 99?0022663	https://raresource.nih.gov/literature/gene/TMEM132E	124842	ENSG00000181291	26991	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM132E	None	None	22222	13
TMEM138	transmembrane protein 138	Joubert syndrome 16?0015807;Joubert syndrome with oculorenal defect?0009455	https://raresource.nih.gov/literature/gene/TMEM138	51524	ENSG00000149483	26944	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM138	None	None	3349	17
TMEM147	transmembrane protein 147	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly?0010565	https://raresource.nih.gov/literature/gene/TMEM147	10430	ENSG00000105677	30414	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM147	None	None	963	53
TMEM151A	transmembrane protein 151A	Episodic kinesigenic dyskinesia 3?0026726	https://raresource.nih.gov/literature/gene/TMEM151A	256472	ENSG00000179292	28497	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM151A	None	None	3006	22
TMEM163	transmembrane protein 163	Leukodystrophy, hypomyelinating, 25?0026724	https://raresource.nih.gov/literature/gene/TMEM163	81615	ENSG00000152128	25380	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM163	None	None	85191	56
TMEM165	transmembrane protein 165	TMEM165-congenital disorder of glycosylation?0012413	https://raresource.nih.gov/literature/gene/TMEM165	55858	ENSG00000134851	30760	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM165	None	None	16599	74
TMEM185A	transmembrane protein 185A	FRAXF syndrome?0019769	https://raresource.nih.gov/literature/gene/TMEM185A	84548	ENSG00000269556	17125	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM185A	None	None	6520	26
TMEM216	transmembrane protein 216	Joubert syndrome with oculorenal defect?0009455;Retinitis pigmentosa 98?0027330;Meckel syndrome, type 2?0008743;Meckel-Gruber syndrome?0003436;Joubert syndrome 2?0010167	https://raresource.nih.gov/literature/gene/TMEM216	51259	ENSG00000187049	25018	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM216	None	None	3847	25
TMEM218	transmembrane protein 218	Joubert syndrome?0006802;Joubert syndrome 39?0025565	https://raresource.nih.gov/literature/gene/TMEM218	219854	ENSG00000150433	27344	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM218	None	None	1775	5
TMEM231	transmembrane protein 231	Meckel syndrome, type 11?0015957;Meckel-Gruber syndrome?0003436;Joubert syndrome with oculorenal defect?0009455;Joubert syndrome 20?0015887	https://raresource.nih.gov/literature/gene/TMEM231	79583	ENSG00000205084	37234	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM231	None	None	6899	18
TMEM237	transmembrane protein 237	Joubert syndrome?0006802;Meckel-Gruber syndrome?0003436;Joubert syndrome with oculorenal defect?0009455;Joubert syndrome 14?0015801	https://raresource.nih.gov/literature/gene/TMEM237	65062	ENSG00000155755	14432	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM237	None	None	8686	18
TMEM240	transmembrane protein 240	Spinocerebellar ataxia type 21?0009999	https://raresource.nih.gov/literature/gene/TMEM240	339453	ENSG00000205090	25186	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM240	None	None	3819	24
TMEM260	transmembrane protein 260	Structural heart defects and renal anomalies syndrome?0025893;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/TMEM260	54916	ENSG00000070269	20185	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM260	None	None	19346	19
TMEM38B	transmembrane protein 38B	Osteogenesis imperfecta type 14?0015901	https://raresource.nih.gov/literature/gene/TMEM38B	55151	ENSG00000095209	25535	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM38B	None	None	32952	72
TMEM43	transmembrane protein 43	Emery-Dreifuss muscular dystrophy 7, autosomal dominant?0018208;Autosomal dominant Emery-Dreifuss muscular dystrophy?0016865;Familial isolated arrhythmogenic ventricular dysplasia, biventricular form?0017346;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form?0017347;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form?0017345;Arrhythmogenic right ventricular dysplasia 5?0024800;Auditory neuropathy, autosomal dominant 3?0026675	https://raresource.nih.gov/literature/gene/TMEM43	79188	ENSG00000170876	28472	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM43	None	None	7712	138
TMEM53	transmembrane protein 53	Craniotubular dysplasia, Ikegawa type?0026671	https://raresource.nih.gov/literature/gene/TMEM53	79639	ENSG00000126106	26186	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM53	None	None	7479	16
TMEM63A	transmembrane protein 63A	Leukodystrophy, hypomyelinating, 19, transient infantile?0025763	https://raresource.nih.gov/literature/gene/TMEM63A	9725	ENSG00000196187	29118	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM63A	None	None	14260	39
TMEM63B	transmembrane protein 63B	TMEM63B-related developmental and epileptic encephalopathy with anemia?0027306	https://raresource.nih.gov/literature/gene/TMEM63B	55362	ENSG00000137216	17735	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM63B	None	None	11464	33
TMEM63C	transmembrane protein 63C	Spastic paraplegia 87, autosomal recessive?0025676	https://raresource.nih.gov/literature/gene/TMEM63C	57156	ENSG00000165548	23787	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM63C	None	None	21948	23
TMEM67	transmembrane protein 67	RHYNS syndrome?0009681;Joubert syndrome?0006802;COACH syndrome 1?0015153;Senior-Boichis syndrome?0016730;COACH syndrome?0001410;Meckel-Gruber syndrome?0003436;Nephronophthisis 11?0018080;Meckel syndrome, type 3?0008744;Joubert syndrome 6?0015494;Bardet-Biedl syndrome 14?0016038	https://raresource.nih.gov/literature/gene/TMEM67	91147	ENSG00000164953	28396	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM67	None	None	25674	150
TMEM70	transmembrane protein 70	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2?0016561	https://raresource.nih.gov/literature/gene/TMEM70	54968	ENSG00000175606	26050	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM70	None	None	4728	56
TMEM94	transmembrane protein 94	Intellectual developmental disorder with cardiac defects and dysmorphic facies?0017998	https://raresource.nih.gov/literature/gene/TMEM94	9772	ENSG00000177728	28983	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM94	None	None	18086	8
TMEM98	transmembrane protein 98	Nanophthalmia?0016637;Nanophthalmos 4?0018629	https://raresource.nih.gov/literature/gene/TMEM98	26022	ENSG00000006042	24529	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM98	None	None	5506	67
TMIE	transmembrane inner ear	Autosomal recessive nonsyndromic hearing loss 6?0022586;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/TMIE	259236	ENSG00000181585	30800	https://pubmed.ncbi.nlm.nih.gov/?term=TMIE	None	None	6330	74
TMPO	thymopoietin	Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/TMPO	7112	ENSG00000120802	11875	https://pubmed.ncbi.nlm.nih.gov/?term=TMPO	None	None	15221	2296
TMPRSS15	transmembrane serine protease 15	Enterokinase deficiency?0017038	https://raresource.nih.gov/literature/gene/TMPRSS15	5651	ENSG00000154646	9490	https://pubmed.ncbi.nlm.nih.gov/?term=TMPRSS15	None	None	38670	193
TMPRSS3	transmembrane serine protease 3	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 8?0022589	https://raresource.nih.gov/literature/gene/TMPRSS3	64699	ENSG00000160183	11877	https://pubmed.ncbi.nlm.nih.gov/?term=TMPRSS3	None	None	9009	157
TMPRSS4	transmembrane serine protease 4	Autosomal recessive cerebral atrophy?0021560	https://raresource.nih.gov/literature/gene/TMPRSS4	56649	ENSG00000137648	11878	https://pubmed.ncbi.nlm.nih.gov/?term=TMPRSS4	None	None	15731	463
TMPRSS6	transmembrane serine protease 6	Iron-refractory iron deficiency anemia?0010957	https://raresource.nih.gov/literature/gene/TMPRSS6	164656	ENSG00000187045	16517	https://pubmed.ncbi.nlm.nih.gov/?term=TMPRSS6	None	None	16582	1429
TMTC3	transmembrane O-mannosyltransferase targeting cadherins 3	Lissencephaly 8?0025044;Periventricular nodular heterotopia?0012724	https://raresource.nih.gov/literature/gene/TMTC3	160418	ENSG00000139324	26899	https://pubmed.ncbi.nlm.nih.gov/?term=TMTC3	None	None	13491	55
TMTC4	transmembrane O-mannosyltransferase targeting cadherins 4	Hearing loss, autosomal recessive 122?0026977	https://raresource.nih.gov/literature/gene/TMTC4	84899	ENSG00000125247	25904	https://pubmed.ncbi.nlm.nih.gov/?term=TMTC4	None	None	20214	6
TNC	tenascin C	Autosomal dominant nonsyndromic hearing loss 56?0018137;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/TNC	3371	ENSG00000041982	5318	https://pubmed.ncbi.nlm.nih.gov/?term=TNC	None	None	38625	49
TNF	tumor necrosis factor	Malaria?0006961	https://raresource.nih.gov/literature/gene/TNF	7124	ENSG00000232810	11892	https://pubmed.ncbi.nlm.nih.gov/?term=TNF	None	None	1431	277773
TNFAIP3	TNF alpha induced protein 3	Autoinflammatory syndrome, familial, Behcet-like 1?0017848;A20 haploinsufficiency?0026086	https://raresource.nih.gov/literature/gene/TNFAIP3	7128	ENSG00000118503	11896	https://pubmed.ncbi.nlm.nih.gov/?term=TNFAIP3	None	None	8284	2459
TNFRSF10B	TNF receptor superfamily member 10b	Squamous cell carcinoma of the head and neck?0008503	https://raresource.nih.gov/literature/gene/TNFRSF10B	8795	ENSG00000120889	11905	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF10B	None	None	21719	3961
TNFRSF11A	TNF receptor superfamily member 11a	Familial expansile osteolysis?0009168;Dysosteosclerosis?0002012;Autosomal recessive osteopetrosis 7?0010106;Paget disease of bone 2, early-onset?0024779	https://raresource.nih.gov/literature/gene/TNFRSF11A	8792	ENSG00000141655	11908	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF11A	None	None	17974	3966
TNFRSF11B	TNF receptor superfamily member 11b	Hyperphosphatasemia with bone disease?0002831	https://raresource.nih.gov/literature/gene/TNFRSF11B	4982	ENSG00000164761	11909	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF11B	None	None	11476	9799
TNFRSF13B	TNF receptor superfamily member 13B	Immunodeficiency, common variable, 2?0015184;Immunoglobulin A deficiency 2?0010198	https://raresource.nih.gov/literature/gene/TNFRSF13B	23495	ENSG00000240505	18153	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF13B	None	None	12643	716
TNFRSF13C	TNF receptor superfamily member 13C	Immunodeficiency, common variable, 4?0015669	https://raresource.nih.gov/literature/gene/TNFRSF13C	115650	ENSG00000159958	17755	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF13C	None	None	2965	831
TNFRSF1A	TNF receptor superfamily member 1A	TNF receptor-associated periodic fever syndrome (TRAPS)?0008457	https://raresource.nih.gov/literature/gene/TNFRSF1A	7132	ENSG00000067182	11916	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF1A	None	None	4634	7500
TNFRSF1B	TNF receptor superfamily member 1B	Sezary syndrome?0007629;Mycosis fungoides?0003863	https://raresource.nih.gov/literature/gene/TNFRSF1B	7133	ENSG00000028137	11917	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF1B	None	None	17964	5369
TNFRSF4	TNF receptor superfamily member 4	Combined immunodeficiency due to OX40 deficiency?0017710	https://raresource.nih.gov/literature/gene/TNFRSF4	7293	ENSG00000186827	11918	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF4	None	None	3304	1817
TNFRSF9	TNF receptor superfamily member 9	Immunodeficiency 109 with lymphoproliferation?0027396	https://raresource.nih.gov/literature/gene/TNFRSF9	3604	ENSG00000049249	11924	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF9	None	None	11275	2513
TNFSF11	TNF superfamily member 11	Autosomal recessive osteopetrosis?0015012;Autosomal recessive osteopetrosis 2?0004157	https://raresource.nih.gov/literature/gene/TNFSF11	8600	ENSG00000120659	11926	https://pubmed.ncbi.nlm.nih.gov/?term=TNFSF11	None	None	12415	14377
TNFSF13	TNF superfamily member 13	Immunodeficiency, common variable, due to APRIL deficiency?0026461	https://raresource.nih.gov/literature/gene/TNFSF13	8741	ENSG00000161955	11928	https://pubmed.ncbi.nlm.nih.gov/?term=TNFSF13	None	None	199	1275
TNIK	TRAF2 and NCK interacting kinase	Intellectual disability, autosomal recessive 54?0022573;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/TNIK	23043	ENSG00000154310	30765	https://pubmed.ncbi.nlm.nih.gov/?term=TNIK	None	None	149030	177
TNK2	tyrosine kinase non receptor 2	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression?0021619	https://raresource.nih.gov/literature/gene/TNK2	10188	ENSG00000061938	19297	https://pubmed.ncbi.nlm.nih.gov/?term=TNK2	None	None	25716	457
TNNC1	troponin C1, slow skeletal and cardiac type	Dilated cardiomyopathy 1Z?0015531;Hypertrophic cardiomyopathy 13?0024906;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/TNNC1	7134	ENSG00000114854	11943	https://pubmed.ncbi.nlm.nih.gov/?term=TNNC1	None	None	1903	2398
TNNC2	troponin C2, fast skeletal type	Congenital myopathy 15?0026704	https://raresource.nih.gov/literature/gene/TNNC2	7125	ENSG00000101470	11944	https://pubmed.ncbi.nlm.nih.gov/?term=TNNC2	None	None	3328	47
TNNI2	troponin I2, fast skeletal type	Distal arthrogryposis type 2B1?0009909;Digitotalar dysmorphism?0000787;Sheldon-Hall syndrome?0016556	https://raresource.nih.gov/literature/gene/TNNI2	7136	ENSG00000130598	11946	https://pubmed.ncbi.nlm.nih.gov/?term=TNNI2	None	None	2720	129
TNNI3	troponin I3, cardiac type	Familial isolated dilated cardiomyopathy?0027293;Dilated cardiomyopathy 1FF?0015643;Hypertrophic cardiomyopathy 7?0024916;Dilated cardiomyopathy 2A?0015532;Cardiomyopathy, familial restrictive, 1?0018070	https://raresource.nih.gov/literature/gene/TNNI3	7137	ENSG00000129991	11947	https://pubmed.ncbi.nlm.nih.gov/?term=TNNI3	None	None	2852	5356
TNNI3K	TNNI3 interacting kinase	Atrial conduction disease?0017729	https://raresource.nih.gov/literature/gene/TNNI3K	51086	ENSG00000116783	19661	https://pubmed.ncbi.nlm.nih.gov/?term=TNNI3K	None	None	374	102
TNNT1	troponin T1, slow skeletal type	Nemaline myopathy 5C, autosomal dominant?0026811;Nemaline myopathy 5?0008334;Nemaline myopathy 5B, autosomal recessive, childhood-onset?0026810	https://raresource.nih.gov/literature/gene/TNNT1	7138	ENSG00000105048	11948	https://pubmed.ncbi.nlm.nih.gov/?term=TNNT1	None	None	9078	1350
TNNT2	troponin T2, cardiac type	Hypertrophic cardiomyopathy 2?0024540;Dilated cardiomyopathy 1D?0015332;Familial isolated dilated cardiomyopathy?0027293;Left ventricular noncompaction?0010985;Cardiomyopathy, familial restrictive, 3?0018072	https://raresource.nih.gov/literature/gene/TNNT2	7139	ENSG00000118194	11949	https://pubmed.ncbi.nlm.nih.gov/?term=TNNT2	None	None	8593	162
TNNT3	troponin T3, fast skeletal type	Digitotalar dysmorphism?0000787;Arthrogryposis, distal, type 2B2?0016351;Sheldon-Hall syndrome?0016556	https://raresource.nih.gov/literature/gene/TNNT3	7140	ENSG00000130595	11950	https://pubmed.ncbi.nlm.nih.gov/?term=TNNT3	None	None	10915	134
TNPO3	transportin 3	Autosomal dominant limb-girdle muscular dystrophy type 1F?0012530	https://raresource.nih.gov/literature/gene/TNPO3	23534	ENSG00000064419	17103	https://pubmed.ncbi.nlm.nih.gov/?term=TNPO3	None	None	37781	134
TNRC6A	trinucleotide repeat containing adaptor 6A	Epilepsy, familial adult myoclonic, 6?0025986	https://raresource.nih.gov/literature/gene/TNRC6A	27327	ENSG00000090905	11969	https://pubmed.ncbi.nlm.nih.gov/?term=TNRC6A	None	None	58823	221
TNRC6B	trinucleotide repeat containing adaptor 6B	Global developmental delay with speech and behavioral abnormalities?0018541	https://raresource.nih.gov/literature/gene/TNRC6B	23112	ENSG00000100354	29190	https://pubmed.ncbi.nlm.nih.gov/?term=TNRC6B	None	None	102749	80
TNS1	tensin 1	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/TNS1	7145	ENSG00000079308	11973	https://pubmed.ncbi.nlm.nih.gov/?term=TNS1	None	None	74531	167
TNXB	tenascin XB	Ehlers-Danlos syndrome due to tenascin-X deficiency?0008507;Familial vesicoureteral reflux?0017323;Vesicoureteral reflux 8?0018425	https://raresource.nih.gov/literature/gene/TNXB	7148	ENSG00000168477	11976	https://pubmed.ncbi.nlm.nih.gov/?term=TNXB	None	None	27004	444
TOE1	target of EGR1, exonuclease	Pontocerebellar hypoplasia type 7?0017315	https://raresource.nih.gov/literature/gene/TOE1	114034	ENSG00000132773	15954	https://pubmed.ncbi.nlm.nih.gov/?term=TOE1	None	None	1824	73
TOGARAM1	TOG array regulator of axonemal microtubules 1	Joubert syndrome?0006802;Joubert syndrome 37?0016434	https://raresource.nih.gov/literature/gene/TOGARAM1	23116	ENSG00000198718	19959	https://pubmed.ncbi.nlm.nih.gov/?term=TOGARAM1	None	None	38124	18
TOMM7	translocase of outer mitochondrial membrane 7	Garg-Mishra progeroid syndrome?0026896	https://raresource.nih.gov/literature/gene/TOMM7	54543	ENSG00000196683	21648	https://pubmed.ncbi.nlm.nih.gov/?term=TOMM7	None	None	2799	79
TONSL	tonsoku like, DNA repair protein	Sponastrime dysplasia?0004970	https://raresource.nih.gov/literature/gene/TONSL	4796	ENSG00000160949	7801	https://pubmed.ncbi.nlm.nih.gov/?term=TONSL	None	None	8794	64
TOP2B	DNA topoisomerase II beta	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations?0027054	https://raresource.nih.gov/literature/gene/TOP2B	7155	ENSG00000077097	11990	https://pubmed.ncbi.nlm.nih.gov/?term=TOP2B	None	None	26201	325
TOP3A	DNA topoisomerase III alpha	Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome?0017949;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5?0025260;Microcephaly, growth restriction, and increased sister chromatid exchange 2?0018507	https://raresource.nih.gov/literature/gene/TOP3A	7156	ENSG00000177302	11992	https://pubmed.ncbi.nlm.nih.gov/?term=TOP3A	None	None	17339	258
TOP6BL	TOP6B like initiator of meiotic double strand breaks	Complete hydatidiform mole?0017224;Hydatidiform mole, recurrent, 4?0018368	https://raresource.nih.gov/literature/gene/TOP6BL	79703	ENSG00000173715	26197	https://pubmed.ncbi.nlm.nih.gov/?term=TOP6BL	None	None	None	22
TOPORS	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	Retinitis pigmentosa 31?0010396;TOPORS-related retinopathy?0026382	https://raresource.nih.gov/literature/gene/TOPORS	10210	ENSG00000197579	21653	https://pubmed.ncbi.nlm.nih.gov/?term=TOPORS	None	None	6005	3
TOR1A	torsin family 1 member A	Arthrogryposis multiplex congenita 5?0026085;Early-onset generalized limb-onset dystonia?0002027	https://raresource.nih.gov/literature/gene/TOR1A	1861	ENSG00000136827	3098	https://pubmed.ncbi.nlm.nih.gov/?term=TOR1A	None	None	5881	1159
TOR1AIP1	torsin 1A interacting protein 1	Autosomal recessive limb-girdle muscular dystrophy type 2Y?0017708	https://raresource.nih.gov/literature/gene/TOR1AIP1	26092	ENSG00000143337	29456	https://pubmed.ncbi.nlm.nih.gov/?term=TOR1AIP1	None	None	17795	162
TP53	tumor protein p53	Familial cancer of breast?0017142;Familial pancreatic carcinoma?0004206;Choroid plexus papilloma?0004214;Adrenal cortex carcinoma?0000558;Pleomorphic rhabdomyosarcoma?0021165;Adrenocortical carcinoma, hereditary?0015132;Nasopharyngeal carcinoma?0007163;Bone osteosarcoma?0007284;Bone marrow failure syndrome 5?0025706;Choroid plexus carcinoma?0008238;B-cell chronic lymphocytic leukemia?0006104;Glioma?0006513;Hepatocellular carcinoma?0016773;Li-Fraumeni syndrome?0006902	https://raresource.nih.gov/literature/gene/TP53	7157	ENSG00000141510	11998	https://pubmed.ncbi.nlm.nih.gov/?term=TP53	None	None	16733	124073
TP53RK	TP53 regulating kinase	Galloway-Mowat syndrome?0000065;Galloway-Mowat syndrome 4?0016248	https://raresource.nih.gov/literature/gene/TP53RK	112858	ENSG00000172315	16197	https://pubmed.ncbi.nlm.nih.gov/?term=TP53RK	None	None	2625	90
TP63	tumor protein p63	Premature ovarian failure 21?0026790;Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome?0006571;Ankyloblepharon filiforme adnatum-cleft palate syndrome?0000696;Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3?0024798;ADULT syndrome?0000384;Orofacial cleft 8?0018308;Limb-mammary syndrome?0010051;Ectrodactyly-ectodermal dysplasia-clefting syndrome?0002076;Split hand-foot malformation 4?0015378;Rapp-Hodgkin syndrome?0005690;Ectrodactyly?0006319	https://raresource.nih.gov/literature/gene/TP63	8626	ENSG00000073282	15979	https://pubmed.ncbi.nlm.nih.gov/?term=TP63	None	None	103296	9474
TP73	tumor protein p73	Ciliary dyskinesia, primary, 47, and lissencephaly?0025546	https://raresource.nih.gov/literature/gene/TP73	7161	ENSG00000078900	12003	https://pubmed.ncbi.nlm.nih.gov/?term=TP73	None	None	37871	139
TPI1	triosephosphate isomerase 1	Triosephosphate isomerase deficiency?0005287	https://raresource.nih.gov/literature/gene/TPI1	7167	ENSG00000111669	12009	https://pubmed.ncbi.nlm.nih.gov/?term=TPI1	None	None	1590	3467
TPK1	thiamin pyrophosphokinase 1	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency?0013571	https://raresource.nih.gov/literature/gene/TPK1	27010	ENSG00000196511	17358	https://pubmed.ncbi.nlm.nih.gov/?term=TPK1	None	None	142320	234
TPM1	tropomyosin 1	Left ventricular noncompaction?0010985;Hypertrophic cardiomyopathy 3?0024541;Dilated cardiomyopathy 1Y?0015530;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/TPM1	7168	ENSG00000140416	12010	https://pubmed.ncbi.nlm.nih.gov/?term=TPM1	None	None	9428	692
TPM2	tropomyosin 2	Congenital myopathy with fiber type disproportion?0006161;Childhood-onset nemaline myopathy?0007171;Digitotalar dysmorphism?0000787;Typical nemaline myopathy?0012822;Sheldon-Hall syndrome?0016556;Cap myopathy?0011915;TPM2-related myopathy?0026079;Congenital myopathy 23?0015454;Arthrogryposis, distal, type 1A?0024527	https://raresource.nih.gov/literature/gene/TPM2	7169	ENSG00000198467	12011	https://pubmed.ncbi.nlm.nih.gov/?term=TPM2	None	None	3746	493
TPM3	tropomyosin 3	Congenital myopathy with fiber type disproportion?0006161;Congenital myopathy 4B, autosomal recessive?0015453;Childhood-onset nemaline myopathy?0007171;Congenital myopathy 4A, autosomal dominant?0026509;Intermediate nemaline myopathy?0012823;TPM3-related myopathy?0026050;Cap myopathy?0011915;Congenital generalized hypercontractile muscle stiffness syndrome?0021956	https://raresource.nih.gov/literature/gene/TPM3	7170	ENSG00000143549	12012	https://pubmed.ncbi.nlm.nih.gov/?term=TPM3	None	None	15936	2374
TPM4	tropomyosin 4	Autosomal dominant macrothrombocytopenia?0016965;Bleeding disorder, platelet-type, 25?0026869;TPM4-related platelet disorder?0026243	https://raresource.nih.gov/literature/gene/TPM4	7171	ENSG00000167460	12013	https://pubmed.ncbi.nlm.nih.gov/?term=TPM4	None	None	15384	230
TPMT	thiopurine S-methyltransferase	Thiopurine S-methyltransferase deficiency?0005173	https://raresource.nih.gov/literature/gene/TPMT	7172	ENSG00000137364	12014	https://pubmed.ncbi.nlm.nih.gov/?term=TPMT	None	None	9346	1264
TPO	thyroid peroxidase	Familial thyroid dyshormonogenesis?0016843;Deficiency of iodide peroxidase?0018189	https://raresource.nih.gov/literature/gene/TPO	7173	ENSG00000115705	12015	https://pubmed.ncbi.nlm.nih.gov/?term=TPO	None	None	96430	8073
TPP1	tripeptidyl peptidase 1	Neuronal ceroid lipofuscinosis 2?0003045;Autosomal recessive spinocerebellar ataxia 7?0012232	https://raresource.nih.gov/literature/gene/TPP1	1200	ENSG00000166340	2073	https://pubmed.ncbi.nlm.nih.gov/?term=TPP1	None	None	3685	985
TPP2	tripeptidyl peptidase 2	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome?0017766	https://raresource.nih.gov/literature/gene/TPP2	7174	ENSG00000134900	12016	https://pubmed.ncbi.nlm.nih.gov/?term=TPP2	None	None	28339	184
TPR	translocated promoter region, nuclear basket protein	Autosomal recessive non-syndromic intellectual disability?0018643;Intellectual developmental disorder, autosomal recessive 79?0026812	https://raresource.nih.gov/literature/gene/TPR	7175	ENSG00000047410	12017	https://pubmed.ncbi.nlm.nih.gov/?term=TPR	None	None	24012	849
TPRKB	TP53RK binding protein	Galloway-Mowat syndrome?0000065;Galloway-Mowat syndrome 5?0016249	https://raresource.nih.gov/literature/gene/TPRKB	51002	ENSG00000144034	24259	https://pubmed.ncbi.nlm.nih.gov/?term=TPRKB	None	None	5447	47
TPRN	taperin	Hearing loss, autosomal recessive?0018117;Autosomal recessive nonsyndromic hearing loss 79?0022633	https://raresource.nih.gov/literature/gene/TPRN	286262	ENSG00000176058	26894	https://pubmed.ncbi.nlm.nih.gov/?term=TPRN	None	None	5366	22
TRAC	T cell receptor alpha constant	TCR-alpha-beta-positive T-cell deficiency?0017646	https://raresource.nih.gov/literature/gene/TRAC	28755		12029	https://pubmed.ncbi.nlm.nih.gov/?term=TRAC	None	None	2467	939
TRAF3IP1	TRAF3 interacting protein 1	Short rib-polydactyly syndrome, Majewski type?0004833;Senior-Loken syndrome 9?0016145;Renal dysplasia and retinal aplasia?0000322	https://raresource.nih.gov/literature/gene/TRAF3IP1	26146	ENSG00000204104	17861	https://pubmed.ncbi.nlm.nih.gov/?term=TRAF3IP1	None	None	32036	40
TRAF3IP2	TRAF3 interacting protein 2	Chronic mucocutaneous candidiasis?0001077;Candidiasis, familial, 8?0015981	https://raresource.nih.gov/literature/gene/TRAF3IP2	10758	ENSG00000056972	1343	https://pubmed.ncbi.nlm.nih.gov/?term=TRAF3IP2	None	None	19447	716
TRAF6	TNF receptor associated factor 6	Autosomal dominant hypohidrotic ectodermal dysplasia?0002048	https://raresource.nih.gov/literature/gene/TRAF6	7189	ENSG00000175104	12036	https://pubmed.ncbi.nlm.nih.gov/?term=TRAF6	None	None	11421	3798
TRAF7	TNF receptor associated factor 7	TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome?0022370;Meningioma?0007015	https://raresource.nih.gov/literature/gene/TRAF7	84231	ENSG00000131653	20456	https://pubmed.ncbi.nlm.nih.gov/?term=TRAF7	None	None	11435	175
TRAIP	TRAF interacting protein	Seckel syndrome?0008562;Seckel syndrome 9?0016158	https://raresource.nih.gov/literature/gene/TRAIP	10293	ENSG00000183763	30764	https://pubmed.ncbi.nlm.nih.gov/?term=TRAIP	None	None	11778	139
TRAK1	trafficking kinesin protein 1	Developmental and epileptic encephalopathy, 68?0016310;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/TRAK1	22906	ENSG00000182606	29947	https://pubmed.ncbi.nlm.nih.gov/?term=TRAK1	None	None	83004	75
TRAPPC10	trafficking protein particle complex subunit 10	Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/TRAPPC10	7109	ENSG00000160218	11868	https://pubmed.ncbi.nlm.nih.gov/?term=TRAPPC10	None	None	24330	38
TRAPPC11	trafficking protein particle complex subunit 11	Autosomal recessive limb-girdle muscular dystrophy type R18?0012543;Intellectual disability-hyperkinetic movement-truncal ataxia syndrome?0021579	https://raresource.nih.gov/literature/gene/TRAPPC11	60684	ENSG00000168538	25751	https://pubmed.ncbi.nlm.nih.gov/?term=TRAPPC11	None	None	22234	49
TRAPPC12	trafficking protein particle complex subunit 12	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome?0017923	https://raresource.nih.gov/literature/gene/TRAPPC12	51112	ENSG00000171853	24284	https://pubmed.ncbi.nlm.nih.gov/?term=TRAPPC12	None	None	41897	20
TRAPPC14	trafficking protein particle complex subunit 14	Microcephaly 25, primary, autosomal recessive?0016346;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/TRAPPC14	55262	ENSG00000146826	25604	https://pubmed.ncbi.nlm.nih.gov/?term=TRAPPC14	None	None	None	4
TRAPPC2	trafficking protein particle complex subunit 2	Spondyloepiphyseal dysplasia tarda, X-linked?0004985;Spondyloepiphyseal dysplasia tarda?0025144	https://raresource.nih.gov/literature/gene/TRAPPC2	6399	ENSG00000196459	23068	https://pubmed.ncbi.nlm.nih.gov/?term=TRAPPC2	None	None	4478	74
TRAPPC9	trafficking protein particle complex subunit 9	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome?0021521;Intellectual disability, autosomal recessive 13?0022548;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/TRAPPC9	83696	ENSG00000167632	30832	https://pubmed.ncbi.nlm.nih.gov/?term=TRAPPC9	None	None	279183	1188
TRDN	triadin	Catecholaminergic polymorphic ventricular tachycardia 1?0024803;Catecholaminergic polymorphic ventricular tachycardia?0004421;Catecholaminergic polymorphic ventricular tachycardia 5?0015967	https://raresource.nih.gov/literature/gene/TRDN	10345	ENSG00000186439	12261	https://pubmed.ncbi.nlm.nih.gov/?term=TRDN	None	None	166768	278
TREH	trehalase	Alpha, alpha-Trehalase deficiency?0010372	https://raresource.nih.gov/literature/gene/TREH	11181	ENSG00000118094	12266	https://pubmed.ncbi.nlm.nih.gov/?term=TREH	None	None	8375	1242
TREM2	triggering receptor expressed on myeloid cells 2	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2?0025237;Alzheimer disease 17?0027519;Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly?0009921	https://raresource.nih.gov/literature/gene/TREM2	54209	ENSG00000095970	17761	https://pubmed.ncbi.nlm.nih.gov/?term=TREM2	None	None	3125	2454
TREX1	three prime repair exonuclease 1	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations?0001217;Familial chilblain lupus?0017874;Aicardi Goutieres syndrome?0000575;Aicardi-Goutieres syndrome 1?0015167;Chilblain lupus 1?0018493;TREX1-related type 1 interferonopathy?0026399	https://raresource.nih.gov/literature/gene/TREX1	11277	ENSG00000213689	12269	https://pubmed.ncbi.nlm.nih.gov/?term=TREX1	None	None	1030	612
TRH	thyrotropin releasing hormone	Hypothalamic hypothyroidism?0017179	https://raresource.nih.gov/literature/gene/TRH	7200	ENSG00000170893	12298	https://pubmed.ncbi.nlm.nih.gov/?term=TRH	None	None	2798	13132
TRHR	thyrotropin releasing hormone receptor	Hypothyroidism, congenital, nongoitrous, 7?0016914	https://raresource.nih.gov/literature/gene/TRHR	7201	ENSG00000174417	12299	https://pubmed.ncbi.nlm.nih.gov/?term=TRHR	None	None	12738	302
TRIM2	tripartite motif containing 2	Charcot-Marie-Tooth disease type 2R?0012451	https://raresource.nih.gov/literature/gene/TRIM2	23321	ENSG00000109654	15974	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM2	None	None	73407	78
TRIM22	tripartite motif containing 22	TRIM22-related inflammatory bowel disease?0022395	https://raresource.nih.gov/literature/gene/TRIM22	10346	ENSG00000132274	16379	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM22	None	None	3467	205
TRIM28	tripartite motif containing 28	Kidney Wilms tumor?0007892	https://raresource.nih.gov/literature/gene/TRIM28	10155	ENSG00000130726	16384	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM28	None	None	5154	975
TRIM32	tripartite motif containing 32	Neuromuscular disease caused by qualitative or quantitative defects of TRIM32?0020400;Sarcotubular myopathy?0003844;Bardet-Biedl syndrome 11?0010210;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/TRIM32	22954	ENSG00000119401	16380	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM32	None	None	1147	321
TRIM33	tripartite motif containing 33	Dislocation of the hip-dysmorphism syndrome?0001428	https://raresource.nih.gov/literature/gene/TRIM33	51592	ENSG00000197323	16290	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM33	None	None	46406	369
TRIM36	tripartite motif containing 36	Anencephaly 1?0005808	https://raresource.nih.gov/literature/gene/TRIM36	55521	ENSG00000152503	16280	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM36	None	None	23359	70
TRIM37	tripartite motif containing 37	Mulibrey nanism syndrome?0000095	https://raresource.nih.gov/literature/gene/TRIM37	4591	ENSG00000108395	7523	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM37	None	None	36226	212
TRIM44	tripartite motif containing 44	Aniridia 3?0016201;Isolated aniridia?0005816	https://raresource.nih.gov/literature/gene/TRIM44	54765	ENSG00000166326	19016	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM44	None	None	56363	176
TRIM71	tripartite motif containing 71	Hydrocephalus, congenital communicating, 1?0018090;Congenital communicating hydrocephalus?0020998	https://raresource.nih.gov/literature/gene/TRIM71	131405	ENSG00000206557	32669	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM71	None	None	35159	163
TRIO	trio Rho guanine nucleotide exchange factor	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly?0025781;Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome?0017850	https://raresource.nih.gov/literature/gene/TRIO	7204	ENSG00000038382	12303	https://pubmed.ncbi.nlm.nih.gov/?term=TRIO	None	None	149473	487
TRIOBP	TRIO and F-actin binding protein	Autosomal recessive nonsyndromic hearing loss 28?0022617;Hearing loss, autosomal recessive?0018117	https://raresource.nih.gov/literature/gene/TRIOBP	11078	ENSG00000100106	17009	https://pubmed.ncbi.nlm.nih.gov/?term=TRIOBP	None	None	26012	125
TRIP11	thyroid hormone receptor interactor 11	Achondrogenesis, type IA?0000459;Odontochondrodysplasia 1?0008717	https://raresource.nih.gov/literature/gene/TRIP11	9321	ENSG00000100815	12305	https://pubmed.ncbi.nlm.nih.gov/?term=TRIP11	None	None	25388	87
TRIP12	thyroid hormone receptor interactor 12	Clark-Baraitser syndrome?0009994	https://raresource.nih.gov/literature/gene/TRIP12	9320	ENSG00000153827	12306	https://pubmed.ncbi.nlm.nih.gov/?term=TRIP12	None	None	61216	125
TRIP13	thyroid hormone receptor interactor 13	Kidney Wilms tumor?0007892;Mosaic variegated aneuploidy syndrome 3?0016240;Mosaic variegated aneuploidy syndrome?0003007;Oocyte maturation defect 9?0018499	https://raresource.nih.gov/literature/gene/TRIP13	9319	ENSG00000071539	12307	https://pubmed.ncbi.nlm.nih.gov/?term=TRIP13	None	None	10028	273
TRIP4	thyroid hormone receptor interactor 4	Prenatal-onset spinal muscular atrophy with congenital bone fractures?0017882;Spinal muscular atrophy with congenital bone fractures 1?0004947;Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome?0017883	https://raresource.nih.gov/literature/gene/TRIP4	9325	ENSG00000103671	12310	https://pubmed.ncbi.nlm.nih.gov/?term=TRIP4	None	None	20127	226
TRIT1	tRNA isopentenyltransferase 1	Combined oxidative phosphorylation deficiency 35?0025966	https://raresource.nih.gov/literature/gene/TRIT1	54802	ENSG00000043514	20286	https://pubmed.ncbi.nlm.nih.gov/?term=TRIT1	None	None	17100	395
TRMT1	tRNA methyltransferase 1	Intellectual developmental disorder, autosomal recessive 68?0025718	https://raresource.nih.gov/literature/gene/TRMT1	55621	ENSG00000104907	25980	https://pubmed.ncbi.nlm.nih.gov/?term=TRMT1	None	None	5922	55
TRMT10A	tRNA methyltransferase 10A	Microcephaly, short stature, and impaired glucose metabolism 1?0018459;Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome?0017620	https://raresource.nih.gov/literature/gene/TRMT10A	93587	ENSG00000145331	28403	https://pubmed.ncbi.nlm.nih.gov/?term=TRMT10A	None	None	7329	39
TRMT10C	tRNA methyltransferase 10C, mitochondrial RNase P subunit	Combined oxidative phosphorylation defect type 30?0017864	https://raresource.nih.gov/literature/gene/TRMT10C	54931	ENSG00000174173	26022	https://pubmed.ncbi.nlm.nih.gov/?term=TRMT10C	None	None	3648	56
TRMT5	tRNA methyltransferase 5	Combined oxidative phosphorylation defect type 26?0017854	https://raresource.nih.gov/literature/gene/TRMT5	57570	ENSG00000126814	23141	https://pubmed.ncbi.nlm.nih.gov/?term=TRMT5	None	None	2780	50
TRMU	tRNA mitochondrial 2-thiouridylase	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins?0010593;Mitochondrial myopathy with reversible cytochrome C oxidase deficiency?0017227;Aminoglycoside-induced deafness?0018161	https://raresource.nih.gov/literature/gene/TRMU	55687	ENSG00000100416	25481	https://pubmed.ncbi.nlm.nih.gov/?term=TRMU	None	None	7963	112
TRNT1	tRNA nucleotidyl transferase 1	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome?0017586	https://raresource.nih.gov/literature/gene/TRNT1	51095	ENSG00000072756	17341	https://pubmed.ncbi.nlm.nih.gov/?term=TRNT1	None	None	10788	462
TRPA1	transient receptor potential cation channel subfamily A member 1	Cramp-fasciculation syndrome?0006205;Familial episodic pain syndrome with predominantly upper body involvement?0017618	https://raresource.nih.gov/literature/gene/TRPA1	8989	ENSG00000104321	497	https://pubmed.ncbi.nlm.nih.gov/?term=TRPA1	None	None	21497	4057
TRPC3	transient receptor potential cation channel subfamily C member 3	Spinocerebellar ataxia type 41?0017810	https://raresource.nih.gov/literature/gene/TRPC3	7222	ENSG00000138741	12335	https://pubmed.ncbi.nlm.nih.gov/?term=TRPC3	None	None	28581	1058
TRPC6	transient receptor potential cation channel subfamily C member 6	Focal segmental glomerulosclerosis 2?0015362;Familial idiopathic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/TRPC6	7225	ENSG00000137672	12338	https://pubmed.ncbi.nlm.nih.gov/?term=TRPC6	None	None	108852	1459
TRPM1	transient receptor potential cation channel subfamily M member 1	Congenital stationary night blindness?0025068;Congenital stationary night blindness 1C?0015631;TRPM1-related retinopathy?0026552	https://raresource.nih.gov/literature/gene/TRPM1	4308	ENSG00000134160	7146	https://pubmed.ncbi.nlm.nih.gov/?term=TRPM1	None	None	41338	316
TRPM3	transient receptor potential cation channel subfamily M member 3	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/TRPM3	80036	ENSG00000083067	17992	https://pubmed.ncbi.nlm.nih.gov/?term=TRPM3	None	None	332040	372
TRPM4	transient receptor potential cation channel subfamily M member 4	Erythrokeratodermia variabilis et progressiva 6?0018672;Progressive familial heart block type IB?0002610;Progressive familial heart block?0010005	https://raresource.nih.gov/literature/gene/TRPM4	54795	ENSG00000130529	17993	https://pubmed.ncbi.nlm.nih.gov/?term=TRPM4	None	None	22146	657
TRPM6	transient receptor potential cation channel subfamily M member 6	Intestinal hypomagnesemia 1?0013072	https://raresource.nih.gov/literature/gene/TRPM6	140803	ENSG00000119121	17995	https://pubmed.ncbi.nlm.nih.gov/?term=TRPM6	None	None	65655	424
TRPM7	transient receptor potential cation channel subfamily M member 7	Amyotrophic lateral sclerosis-parkinsonism-dementia complex?0009239;Autosomal dominant macrothrombocytopenia?0016965	https://raresource.nih.gov/literature/gene/TRPM7	54822	ENSG00000092439	17994	https://pubmed.ncbi.nlm.nih.gov/?term=TRPM7	None	None	55256	1060
TRPS1	transcriptional repressor GATA binding 1	Trichorhinophalangeal dysplasia type I?0007800	https://raresource.nih.gov/literature/gene/TRPS1	7227	ENSG00000104447	12340	https://pubmed.ncbi.nlm.nih.gov/?term=TRPS1	None	None	93559	429
TRPV3	transient receptor potential cation channel subfamily V member 3	Isolated focal non-epidermolytic palmoplantar keratoderma?0017781;Olmsted syndrome?0004075;Olmsted syndrome 1?0015818	https://raresource.nih.gov/literature/gene/TRPV3	162514	ENSG00000167723	18084	https://pubmed.ncbi.nlm.nih.gov/?term=TRPV3	None	None	15863	563
TRPV4	transient receptor potential cation channel subfamily V member 4	Spondyloepimetaphyseal dysplasia, Maroteaux type?0000994;Parastremmatic dwarfism?0004222;Metatropic dysplasia?0003571;Charcot-Marie-Tooth disease axonal type 2C?0001250;Familial avascular necrosis of the femoral head?0010914;Spondylometaphyseal dysplasia, Kozlowski type?0003047;Brachyrachia (short spine dysplasia)?0010429;Avascular necrosis of femoral head, primary, 2?0025947;Familial digital arthropathy-brachydactyly?0016735;Neuronopathy, distal hereditary motor, autosomal dominant 8?0001474;Scapuloperoneal spinal muscular atrophy?0010314	https://raresource.nih.gov/literature/gene/TRPV4	59341	ENSG00000111199	18083	https://pubmed.ncbi.nlm.nih.gov/?term=TRPV4	None	None	14096	2583
TRPV6	transient receptor potential cation channel subfamily V member 6	Hyperparathyroidism, transient neonatal?0016304	https://raresource.nih.gov/literature/gene/TRPV6	55503	ENSG00000165125	14006	https://pubmed.ncbi.nlm.nih.gov/?term=TRPV6	None	None	5882	1416
TRRAP	transformation/transcription domain associated protein	Autosomal dominant nonsyndromic hearing loss?0016791;Hearing loss, autosomal dominant 75?0018153	https://raresource.nih.gov/literature/gene/TRRAP	8295	ENSG00000196367	12347	https://pubmed.ncbi.nlm.nih.gov/?term=TRRAP	None	None	53122	42
TSC1	TSC complex subunit 1	Lung lymphangioleiomyomatosis?0003319;Tetralogy of Fallot?0002245;Tuberous sclerosis syndrome?0007830;Lymphangiomyomatosis?0024820;Isolated focal cortical dysplasia type IIb?0017271;Tuberous sclerosis 1?0015121;Isolated focal cortical dysplasia type II?0010190	https://raresource.nih.gov/literature/gene/TSC1	7248	ENSG00000165699	12362	https://pubmed.ncbi.nlm.nih.gov/?term=TSC1	None	None	23116	3399
TSC2	TSC complex subunit 2	Lung lymphangioleiomyomatosis?0003319;Tuberous sclerosis syndrome?0007830;Lymphangiomyomatosis?0024820;Tuberous sclerosis 2?0015640;Isolated focal cortical dysplasia type IIb?0017271;Isolated focal cortical dysplasia type IIa?0017270	https://raresource.nih.gov/literature/gene/TSC2	7249	ENSG00000103197	12363	https://pubmed.ncbi.nlm.nih.gov/?term=TSC2	None	None	25919	3819
TSEN15	tRNA splicing endonuclease subunit 15	Pontocerebellar hypoplasia type 2?0010705;Pontocerebellar hypoplasia, type 2F?0016178	https://raresource.nih.gov/literature/gene/TSEN15	116461	ENSG00000198860	16791	https://pubmed.ncbi.nlm.nih.gov/?term=TSEN15	None	None	24647	17
TSEN2	tRNA splicing endonuclease subunit 2	Pontocerebellar hypoplasia type 2B?0015553;Pontocerebellar hypoplasia type 2?0010705	https://raresource.nih.gov/literature/gene/TSEN2	80746	ENSG00000154743	28422	https://pubmed.ncbi.nlm.nih.gov/?term=TSEN2	None	None	22064	33
TSEN34	tRNA splicing endonuclease subunit 34	Pontocerebellar hypoplasia type 2?0010705;Pontocerebellar hypoplasia type 2C?0015554	https://raresource.nih.gov/literature/gene/TSEN34	79042	ENSG00000170892	15506	https://pubmed.ncbi.nlm.nih.gov/?term=TSEN34	None	None	2651	13
TSEN54	tRNA splicing endonuclease subunit 54	Pontocerebellar hypoplasia type 2?0010705;Pontocerebellar hypoplasia type 5?0010709;Pontocerebellar hypoplasia type 4?0000343;Pontocerebellar hypoplasia type 2A?0015244	https://raresource.nih.gov/literature/gene/TSEN54	283989	ENSG00000182173	27561	https://pubmed.ncbi.nlm.nih.gov/?term=TSEN54	None	None	2788	59
TSFM	Ts translation elongation factor, mitochondrial	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3?0017035	https://raresource.nih.gov/literature/gene/TSFM	10102	ENSG00000123297	12367	https://pubmed.ncbi.nlm.nih.gov/?term=TSFM	None	None	4360	49
TSHB	thyroid stimulating hormone subunit beta	Isolated thyroid-stimulating hormone deficiency?0010129	https://raresource.nih.gov/literature/gene/TSHB	7252	ENSG00000134200	12372	https://pubmed.ncbi.nlm.nih.gov/?term=TSHB	None	None	2925	398
TSHR	thyroid stimulating hormone receptor	Familial gestational hyperthyroidism?0016913;Thyroid hypoplasia?0008426;Familial hyperthyroidism due to mutations in TSH receptor?0002858;Hypothyroidism due to TSH receptor mutations?0016793;Thyroid agenesis?0016842	https://raresource.nih.gov/literature/gene/TSHR	7253	ENSG00000165409	12373	https://pubmed.ncbi.nlm.nih.gov/?term=TSHR	None	None	55438	3787
TSHZ1	teashirt zinc finger homeobox 1	Aural atresia, congenital?0018275	https://raresource.nih.gov/literature/gene/TSHZ1	10194	ENSG00000179981	10669	https://pubmed.ncbi.nlm.nih.gov/?term=TSHZ1	None	None	20295	269
TSPAN12	tetraspanin 12	Familial exudative vitreoretinopathy?0001613;TSPAN12-related vitreoretinopathy?0026242;Exudative vitreoretinopathy 5?0015646	https://raresource.nih.gov/literature/gene/TSPAN12	23554	ENSG00000106025	21641	https://pubmed.ncbi.nlm.nih.gov/?term=TSPAN12	None	None	24639	172
TSPAN7	tetraspanin 7	Intellectual disability, X-linked 58?0022670;Non-syndromic X-linked intellectual disability?0018640	https://raresource.nih.gov/literature/gene/TSPAN7	7102	ENSG00000156298	11854	https://pubmed.ncbi.nlm.nih.gov/?term=TSPAN7	None	None	424	198
TSPEAR	thrombospondin type laminin G domain and EAR repeats	Autosomal recessive nonsyndromic hearing loss 98?0022644;Tooth agenesis, selective, 10?0026706;Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis?0025707	https://raresource.nih.gov/literature/gene/TSPEAR	54084	ENSG00000175894	1268	https://pubmed.ncbi.nlm.nih.gov/?term=TSPEAR	None	None	56751	44
TSPOAP1	TSPO associated protein 1	Dystonia 22, juvenile-onset?0026859;Dystonia 22, adult-onset?0026861	https://raresource.nih.gov/literature/gene/TSPOAP1	9256	ENSG00000005379	16831	https://pubmed.ncbi.nlm.nih.gov/?term=TSPOAP1	None	None	11357	41
TSPYL1	TSPY like 1	Sudden infant death-dysgenesis of the testes syndrome?0012382	https://raresource.nih.gov/literature/gene/TSPYL1	7259	ENSG00000189241	12382	https://pubmed.ncbi.nlm.nih.gov/?term=TSPYL1	None	None	767	28
TSR2	TSR2 ribosome maturation factor	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis?0015275;Diamond-Blackfan anemia?0006274	https://raresource.nih.gov/literature/gene/TSR2	90121	ENSG00000158526	25455	https://pubmed.ncbi.nlm.nih.gov/?term=TSR2	None	None	1267	31
TTBK2	tau tubulin kinase 2	Spinocerebellar ataxia type 11?0010475	https://raresource.nih.gov/literature/gene/TTBK2	146057	ENSG00000128881	19141	https://pubmed.ncbi.nlm.nih.gov/?term=TTBK2	None	None	48532	106
TTC12	tetratricopeptide repeat domain 12	Ciliary dyskinesia, primary, 45?0016383;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/TTC12	54970	ENSG00000149292	23700	https://pubmed.ncbi.nlm.nih.gov/?term=TTC12	None	None	21347	33
TTC19	tetratricopeptide repeat domain 19	Mitochondrial complex III deficiency?0008295;Mitochondrial complex III deficiency nuclear type 2?0015910	https://raresource.nih.gov/literature/gene/TTC19	54902	ENSG00000011295	26006	https://pubmed.ncbi.nlm.nih.gov/?term=TTC19	None	None	7414	38
TTC21A	tetratricopeptide repeat domain 21A	Spermatogenic failure 37?0018408	https://raresource.nih.gov/literature/gene/TTC21A	199223	ENSG00000168026	30761	https://pubmed.ncbi.nlm.nih.gov/?term=TTC21A	None	None	12451	16
TTC21B	tetratricopeptide repeat domain 21B	Nephronophthisis 12?0024925;Jeune thoracic dystrophy?0003049;Asphyxiating thoracic dystrophy 4?0015718	https://raresource.nih.gov/literature/gene/TTC21B	79809	ENSG00000123607	25660	https://pubmed.ncbi.nlm.nih.gov/?term=TTC21B	None	None	40485	95
TTC29	tetratricopeptide repeat domain 29	Spermatogenic failure 42?0018413	https://raresource.nih.gov/literature/gene/TTC29	83894	ENSG00000137473	29936	https://pubmed.ncbi.nlm.nih.gov/?term=TTC29	None	None	85657	12
TTC5	tetratricopeptide repeat domain 5	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism?0018542;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/TTC5	91875	ENSG00000136319	19274	https://pubmed.ncbi.nlm.nih.gov/?term=TTC5	None	None	19574	142
TTC7A	tetratricopeptide repeat domain 7A	Gastrointestinal defects and immunodeficiency syndrome 1?0017731	https://raresource.nih.gov/literature/gene/TTC7A	57217	ENSG00000068724	19750	https://pubmed.ncbi.nlm.nih.gov/?term=TTC7A	None	None	69507	85
TTC8	tetratricopeptide repeat domain 8	TTC8-related ciliopathy?0027251;Bardet-Biedl syndrome 8?0010207;Retinitis pigmentosa 51?0015665;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/TTC8	123016	ENSG00000165533	20087	https://pubmed.ncbi.nlm.nih.gov/?term=TTC8	None	None	13034	71
TTI2	TELO2 interacting protein 2	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome?0017611	https://raresource.nih.gov/literature/gene/TTI2	80185	ENSG00000129696	26262	https://pubmed.ncbi.nlm.nih.gov/?term=TTI2	None	None	10998	33
TTLL5	tubulin tyrosine ligase like 5	Cone-rod dystrophy 19?0016022;Cone-rod dystrophy?0010790;TTLL5-related retinopathy?0027241	https://raresource.nih.gov/literature/gene/TTLL5	23093	ENSG00000119685	19963	https://pubmed.ncbi.nlm.nih.gov/?term=TTLL5	None	None	70353	77
TTN	titin	Dilated cardiomyopathy 1G?0015363;Hypertrophic cardiomyopathy 9?0024921;Familial isolated dilated cardiomyopathy?0027293;Familial isolated arrhythmogenic ventricular dysplasia, biventricular form?0017346;Autosomal recessive centronuclear myopathy?0012718;Early-onset myopathy with fatal cardiomyopathy?0017324;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form?0017347;Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome?0021942;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form?0017345;TTN-related myopathy?0026073;Myopathy, myofibrillar, 9, with early respiratory failure?0012591;Classic multiminicore myopathy?0013661;Autosomal recessive limb-girdle muscular dystrophy type 2J?0012534;Tibial muscular dystrophy?0013154	https://raresource.nih.gov/literature/gene/TTN	7273	ENSG00000155657	12403	https://pubmed.ncbi.nlm.nih.gov/?term=TTN	None	None	133926	3343
TTPA	alpha tocopherol transfer protein	Familial isolated deficiency of vitamin E?0008595	https://raresource.nih.gov/literature/gene/TTPA	7274	ENSG00000137561	12404	https://pubmed.ncbi.nlm.nih.gov/?term=TTPA	None	None	14771	620
TTR	transthyretin	Euthyroid dysprealbuminemic hyperthyroxinemia?0022401;ATTRV122I amyloidosis?0016755;Carpal tunnel syndrome 1?0025228;Amyloidosis, hereditary systemic 1?0027098	https://raresource.nih.gov/literature/gene/TTR	7276	ENSG00000118271	12405	https://pubmed.ncbi.nlm.nih.gov/?term=TTR	None	None	11253	10178
TUB	TUB bipartite transcription factor	Retinal dystrophy and obesity?0024998	https://raresource.nih.gov/literature/gene/TUB	7275	ENSG00000166402	12406	https://pubmed.ncbi.nlm.nih.gov/?term=TUB	None	None	33777	928
TUBA1A	tubulin alpha 1a	Lissencephaly due to TUBA1A mutation?0017066;Tubulinopathy-associated dysgyria?0021944;Congenital fibrosis of extraocular muscles?0012590	https://raresource.nih.gov/literature/gene/TUBA1A	7846	ENSG00000167552	20766	https://pubmed.ncbi.nlm.nih.gov/?term=TUBA1A	None	None	2631	1
TUBA3D	tubulin alpha 3d	Keratoconus 9?0025972	https://raresource.nih.gov/literature/gene/TUBA3D	113457	ENSG00000075886	24071	https://pubmed.ncbi.nlm.nih.gov/?term=TUBA3D	None	None	4088	17
TUBA4A	tubulin alpha 4a	Amyotrophic lateral sclerosis type 22?0016068	https://raresource.nih.gov/literature/gene/TUBA4A	7277	ENSG00000127824	12407	https://pubmed.ncbi.nlm.nih.gov/?term=TUBA4A	None	None	1844	139
TUBA8	tubulin alpha 8	Autosomal dominant macrothrombocytopenia?0016965;Macrothrombocytopenia, isolated, 2, autosomal dominant?0025645;Polymicrogyria with optic nerve hypoplasia?0020687	https://raresource.nih.gov/literature/gene/TUBA8	51807	ENSG00000183785	12410	https://pubmed.ncbi.nlm.nih.gov/?term=TUBA8	None	None	6402	44
TUBB	tubulin beta class I	Multiple benign circumferential skin creases on limbs 1?0025231;Michelin-tire baby?0003589	https://raresource.nih.gov/literature/gene/TUBB	203068	ENSG00000196230	20778	https://pubmed.ncbi.nlm.nih.gov/?term=TUBB	None	None	3347	450
TUBB1	tubulin beta 1 class VI	Autosomal dominant macrothrombocytopenia?0016965;Macrothrombocytopenia, isolated, 1, autosomal dominant?0018271	https://raresource.nih.gov/literature/gene/TUBB1	81027	ENSG00000101162	16257	https://pubmed.ncbi.nlm.nih.gov/?term=TUBB1	None	None	2688	116
TUBB2A	tubulin beta 2A class IIa	TUBB2A-related tubulinopathy?0027070	https://raresource.nih.gov/literature/gene/TUBB2A	7280	ENSG00000137267	12412	https://pubmed.ncbi.nlm.nih.gov/?term=TUBB2A	None	None	2443	353
TUBB2B	tubulin beta 2B class IIb	Complex cortical dysplasia with other brain malformations 7?0017375;Tubulinopathy-associated dysgyria?0021944;Congenital fibrosis of extraocular muscles?0012590;Dysequilibrium syndrome?0001998	https://raresource.nih.gov/literature/gene/TUBB2B	347733	ENSG00000137285	30829	https://pubmed.ncbi.nlm.nih.gov/?term=TUBB2B	None	None	3365	140
TUBB3	tubulin beta 3 class III	Complex cortical dysplasia with other brain malformations 1?0013032;Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement?0015321;Tubulinopathy-associated dysgyria?0021944;Congenital fibrosis of extraocular muscles?0012590	https://raresource.nih.gov/literature/gene/TUBB3	10381	ENSG00000258947	20772	https://pubmed.ncbi.nlm.nih.gov/?term=TUBB3	None	None	1018	16
TUBB4A	tubulin beta 4A class IVa	Hypomyelinating leukodystrophy 6?0010917;TUBB4A-related neurologic disorder?0026570;Torsion dystonia 4?0010138	https://raresource.nih.gov/literature/gene/TUBB4A	10382	ENSG00000104833	20774	https://pubmed.ncbi.nlm.nih.gov/?term=TUBB4A	None	None	4999	221
TUBB4B	tubulin beta 4B class IVb	Leber congenital amaurosis with early-onset deafness?0026002;Leber congenital amaurosis?0000634;TUBB4B-related ciliopathy?0027583	https://raresource.nih.gov/literature/gene/TUBB4B	10383	ENSG00000188229	20771	https://pubmed.ncbi.nlm.nih.gov/?term=TUBB4B	None	None	2468	1148
TUBB8	tubulin beta 8 class VIII	Female infertility due to oocyte meiotic arrest?0017887;Oocyte maturation defect 2?0018496	https://raresource.nih.gov/literature/gene/TUBB8	347688	ENSG00000261456	20773	https://pubmed.ncbi.nlm.nih.gov/?term=TUBB8	None	None	13947	67
TUBGCP4	tubulin gamma complex component 4	Microcephaly and chorioretinopathy 3?0018482	https://raresource.nih.gov/literature/gene/TUBGCP4	27229	ENSG00000137822	16691	https://pubmed.ncbi.nlm.nih.gov/?term=TUBGCP4	None	None	8951	40
TUBGCP6	tubulin gamma complex component 6	Microcephaly and chorioretinopathy 1?0016603	https://raresource.nih.gov/literature/gene/TUBGCP6	85378	ENSG00000128159	18127	https://pubmed.ncbi.nlm.nih.gov/?term=TUBGCP6	None	None	11944	41
TUFM	Tu translation elongation factor, mitochondrial	Combined oxidative phosphorylation defect type 4?0017233	https://raresource.nih.gov/literature/gene/TUFM	7284	ENSG00000178952	12420	https://pubmed.ncbi.nlm.nih.gov/?term=TUFM	None	None	2050	1903
TULP1	TUB like protein 1	Leber congenital amaurosis?0000634;Leber congenital amaurosis 15?0010884;Retinitis pigmentosa 14?0010385	https://raresource.nih.gov/literature/gene/TULP1	7287	ENSG00000112041	12423	https://pubmed.ncbi.nlm.nih.gov/?term=TULP1	None	None	6840	133
TUSC3	tumor suppressor candidate 3	Intellectual disability, autosomal recessive 7?0022543;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/TUSC3	7991	ENSG00000104723	30242	https://pubmed.ncbi.nlm.nih.gov/?term=TUSC3	None	None	180522	236
TWIST1	twist family bHLH transcription factor 1	Saethre-Chotzen syndrome?0007598;TWIST1-related craniosynostosis?0018045;Robinow-Sorauf syndrome?0004730	https://raresource.nih.gov/literature/gene/TWIST1	7291	ENSG00000122691	12428	https://pubmed.ncbi.nlm.nih.gov/?term=TWIST1	None	None	2671	4897
TWIST2	twist family bHLH transcription factor 2	Barber-Say syndrome?0000819;Focal facial dermal dysplasia type III?0000121;Ablepharon macrostomia syndrome?0000003	https://raresource.nih.gov/literature/gene/TWIST2	117581	ENSG00000233608	20670	https://pubmed.ncbi.nlm.nih.gov/?term=TWIST2	None	None	31468	550
TWNK	twinkle mtDNA helicase	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3?0016499;Perrault syndrome 5?0016062;Infantile onset spinocerebellar ataxia?0004062;Mitochondrial DNA depletion syndrome, hepatocerebrorenal form?0017564;Autosomal dominant progressive external ophthalmoplegia?0016486	https://raresource.nih.gov/literature/gene/TWNK	56652	ENSG00000107815	1160	https://pubmed.ncbi.nlm.nih.gov/?term=TWNK	None	None	3308	297
TXN2	thioredoxin 2	Combined oxidative phosphorylation deficiency 29?0017863	https://raresource.nih.gov/literature/gene/TXN2	25828	ENSG00000100348	17772	https://pubmed.ncbi.nlm.nih.gov/?term=TXN2	None	None	5405	894
TXNDC15	thioredoxin domain containing 15	Meckel syndrome 14?0025643;Meckel-Gruber syndrome?0003436	https://raresource.nih.gov/literature/gene/TXNDC15	79770	ENSG00000113621	20652	https://pubmed.ncbi.nlm.nih.gov/?term=TXNDC15	None	None	11534	181
TXNL4A	thioredoxin like 4A	Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome?0010041	https://raresource.nih.gov/literature/gene/TXNL4A	10907	ENSG00000141759	30551	https://pubmed.ncbi.nlm.nih.gov/?term=TXNL4A	None	None	16296	81
TXNRD2	thioredoxin reductase 2	Glucocorticoid deficiency 5?0016257;Familial glucocorticoid deficiency?0002498;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/TXNRD2	10587	ENSG00000184470	18155	https://pubmed.ncbi.nlm.nih.gov/?term=TXNRD2	None	None	26700	3730
TYK2	tyrosine kinase 2	Immunodeficiency 35?0017514	https://raresource.nih.gov/literature/gene/TYK2	7297	ENSG00000105397	12440	https://pubmed.ncbi.nlm.nih.gov/?term=TYK2	None	None	12834	1688
TYMP	thymidine phosphorylase	Mitochondrial DNA depletion syndrome 1?0024787;Mitochondrial neurogastrointestinal encephalomyopathy?0009920	https://raresource.nih.gov/literature/gene/TYMP	1890	ENSG00000025708	3148	https://pubmed.ncbi.nlm.nih.gov/?term=TYMP	None	None	2164	2916
TYMS	thymidylate synthetase	Dyskeratosis congenita, digenic?0025688;Dyskeratosis congenita?0010905	https://raresource.nih.gov/literature/gene/TYMS	7298	ENSG00000176890	12441	https://pubmed.ncbi.nlm.nih.gov/?term=TYMS	None	None	7507	6724
TYR	tyrosinase	Minimal pigment oculocutaneous albinism type 1?0021529;Oculocutaneous albinism type 1A?0016721;Oculocutaneous albinism type 1B?0000594;Temperature-sensitive oculocutaneous albinism type 1?0017530	https://raresource.nih.gov/literature/gene/TYR	7299	ENSG00000077498	12442	https://pubmed.ncbi.nlm.nih.gov/?term=TYR	None	None	32642	13621
TYROBP	transmembrane immune signaling adaptor TYROBP	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1?0025236;Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly?0009921	https://raresource.nih.gov/literature/gene/TYROBP	7305	ENSG00000011600	12449	https://pubmed.ncbi.nlm.nih.gov/?term=TYROBP	None	None	1886	544
TYRP1	tyrosinase related protein 1	Oculocutaneous albinism type 3?0004039	https://raresource.nih.gov/literature/gene/TYRP1	7306	ENSG00000107165	12450	https://pubmed.ncbi.nlm.nih.gov/?term=TYRP1	None	None	9130	6005
UBA1	ubiquitin like modifier activating enzyme 1	VEXAS syndrome?0015001;Infantile-onset X-linked spinal muscular atrophy?0008521	https://raresource.nih.gov/literature/gene/UBA1	7317	ENSG00000130985	12469	https://pubmed.ncbi.nlm.nih.gov/?term=UBA1	None	None	5578	624
UBA5	ubiquitin like modifier activating enzyme 5	Spinocerebellar ataxia, autosomal recessive 24?0025035;Developmental and epileptic encephalopathy, 44?0016198;Undetermined early-onset epileptic encephalopathy?0015028	https://raresource.nih.gov/literature/gene/UBA5	79876	ENSG00000081307	23230	https://pubmed.ncbi.nlm.nih.gov/?term=UBA5	None	None	6183	100
UBAP1	ubiquitin associated protein 1	Spastic paraplegia 80, autosomal dominant?0025732	https://raresource.nih.gov/literature/gene/UBAP1	51271	ENSG00000165006	12461	https://pubmed.ncbi.nlm.nih.gov/?term=UBAP1	None	None	31554	101
UBAP1L	ubiquitin associated protein 1 like	Cone-rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/UBAP1L	390595	ENSG00000246922	40028	https://pubmed.ncbi.nlm.nih.gov/?term=UBAP1L	None	None	6611	6
UBE2A	ubiquitin conjugating enzyme E2 A	Syndromic X-linked intellectual disability Nascimento type?0017005	https://raresource.nih.gov/literature/gene/UBE2A	7319	ENSG00000077721	12472	https://pubmed.ncbi.nlm.nih.gov/?term=UBE2A	None	None	3059	181
UBE2T	ubiquitin conjugating enzyme E2 T	Fanconi anemia?0006425;Fanconi anemia complementation group T?0016111	https://raresource.nih.gov/literature/gene/UBE2T	29089	ENSG00000077152	25009	https://pubmed.ncbi.nlm.nih.gov/?term=UBE2T	None	None	5667	196
UBE3A	ubiquitin protein ligase E3A	Angelman syndrome?0005810;Angelman syndrome due to a point mutation?0021732	https://raresource.nih.gov/literature/gene/UBE3A	7337	ENSG00000114062	12496	https://pubmed.ncbi.nlm.nih.gov/?term=UBE3A	None	None	31301	1990
UBE3B	ubiquitin protein ligase E3B	Oculocerebrofacial syndrome, Kaufman type?0003084	https://raresource.nih.gov/literature/gene/UBE3B	89910	ENSG00000151148	13478	https://pubmed.ncbi.nlm.nih.gov/?term=UBE3B	None	None	14677	66
UBE4A	ubiquitination factor E4A	Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/UBE4A	9354	ENSG00000110344	12499	https://pubmed.ncbi.nlm.nih.gov/?term=UBE4A	None	None	13312	1575
UBIAD1	UbiA prenyltransferase domain containing 1	Schnyder crystalline corneal dystrophy?0009277	https://raresource.nih.gov/literature/gene/UBIAD1	29914	ENSG00000120942	30791	https://pubmed.ncbi.nlm.nih.gov/?term=UBIAD1	None	None	9903	108
UBQLN2	ubiquilin 2	Amyotrophic lateral sclerosis type 15?0015269;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/UBQLN2	29978	ENSG00000188021	12509	https://pubmed.ncbi.nlm.nih.gov/?term=UBQLN2	None	None	1907	318
UBR1	ubiquitin protein ligase E3 component n-recognin 1	Johanson-Blizzard syndrome?0000080	https://raresource.nih.gov/literature/gene/UBR1	197131	ENSG00000159459	16808	https://pubmed.ncbi.nlm.nih.gov/?term=UBR1	None	None	43503	212
UBTF	upstream binding transcription factor	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder?0013658	https://raresource.nih.gov/literature/gene/UBTF	7343	ENSG00000108312	12511	https://pubmed.ncbi.nlm.nih.gov/?term=UBTF	None	None	9273	485
UCHL1	ubiquitin C-terminal hydrolase L1	Spastic paraplegia 79A, autosomal dominant, with ataxia?0026717;Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome?0017523	https://raresource.nih.gov/literature/gene/UCHL1	7345	ENSG00000154277	12513	https://pubmed.ncbi.nlm.nih.gov/?term=UCHL1	None	None	6130	4010
UCP2	uncoupling protein 2	Hyperinsulinism due to UCP2 deficiency?0021054	https://raresource.nih.gov/literature/gene/UCP2	7351	ENSG00000175567	12518	https://pubmed.ncbi.nlm.nih.gov/?term=UCP2	None	None	4059	2814
UCP3	uncoupling protein 3	Inherited obesity?0018935	https://raresource.nih.gov/literature/gene/UCP3	7352	ENSG00000175564	12519	https://pubmed.ncbi.nlm.nih.gov/?term=UCP3	None	None	2522	1439
UFM1	ubiquitin fold modifier 1	Leukodystrophy, hypomyelinating, 14?0016266	https://raresource.nih.gov/literature/gene/UFM1	51569	ENSG00000120686	20597	https://pubmed.ncbi.nlm.nih.gov/?term=UFM1	None	None	5562	255
UFSP2	UFM1 specific peptidase 2	Hip dysplasia, Beukes type?0002690;Developmental and epileptic encephalopathy 106?0025685;Autosomal recessive non-syndromic intellectual disability?0018643;Spondyloepimetaphyseal dysplasia, di rocco type?0026004	https://raresource.nih.gov/literature/gene/UFSP2	55325	ENSG00000109775	25640	https://pubmed.ncbi.nlm.nih.gov/?term=UFSP2	None	None	11585	89
UGDH	UDP-glucose 6-dehydrogenase	Developmental and epileptic encephalopathy, 84?0025774	https://raresource.nih.gov/literature/gene/UGDH	7358	ENSG00000109814	12525	https://pubmed.ncbi.nlm.nih.gov/?term=UGDH	None	None	11350	3163
UGP2	UDP-glucose pyrophosphorylase 2	Developmental and epileptic encephalopathy, 83?0025767	https://raresource.nih.gov/literature/gene/UGP2	7360	ENSG00000169764	12527	https://pubmed.ncbi.nlm.nih.gov/?term=UGP2	None	None	19426	181
UGT1A1	UDP glucuronosyltransferase family 1 member A1	Crigler-Najjar syndrome, type II?0008683;Crigler-Najjar syndrome type 1?0000047;Lucey-Driscoll syndrome?0002791	https://raresource.nih.gov/literature/gene/UGT1A1	54658	ENSG00000241635	12530	https://pubmed.ncbi.nlm.nih.gov/?term=UGT1A1	None	None	581	3861
UHRF1	ubiquitin like with PHD and ring finger domains 1	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency?0002945	https://raresource.nih.gov/literature/gene/UHRF1	29128	ENSG00000276043	12556	https://pubmed.ncbi.nlm.nih.gov/?term=UHRF1	None	None	21160	842
UMOD	uromodulin	Familial juvenile hyperuricemic nephropathy type 1?0010679	https://raresource.nih.gov/literature/gene/UMOD	7369	ENSG00000169344	12559	https://pubmed.ncbi.nlm.nih.gov/?term=UMOD	None	None	8096	1323
UMPS	uridine monophosphate synthetase	Hereditary orotic aciduria?0005429	https://raresource.nih.gov/literature/gene/UMPS	7372	ENSG00000114491	12563	https://pubmed.ncbi.nlm.nih.gov/?term=UMPS	None	None	10148	740
UNC119	unc-119 lipid binding chaperone	Cone-rod dystrophy?0010790;Idiopathic CD4 lymphocytopenia?0012375;Cone-rod dystrophy 24?0026794	https://raresource.nih.gov/literature/gene/UNC119	9094	ENSG00000109103	12565	https://pubmed.ncbi.nlm.nih.gov/?term=UNC119	None	None	2362	90
UNC13D	unc-13 homolog D	Familial hemophagocytic lymphohistiocytosis?0006589;Familial hemophagocytic lymphohistiocytosis 3?0009928	https://raresource.nih.gov/literature/gene/UNC13D	201294	ENSG00000092929	23147	https://pubmed.ncbi.nlm.nih.gov/?term=UNC13D	None	None	7009	408
UNC45B	unc-45 myosin chaperone B	Myofibrillar myopathy 11?0025664;Early-onset nuclear cataract?0016887;Early-onset posterior subcapsular cataract?0021846;Cataract 43?0025003	https://raresource.nih.gov/literature/gene/UNC45B	146862	ENSG00000141161	14304	https://pubmed.ncbi.nlm.nih.gov/?term=UNC45B	None	None	11605	69
UNC80	unc-80 homolog, NALCN channel complex subunit	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2?0018458	https://raresource.nih.gov/literature/gene/UNC80	285175	ENSG00000144406	26582	https://pubmed.ncbi.nlm.nih.gov/?term=UNC80	None	None	84100	61
UNC93B1	unc-93 homolog B1, TLR signaling regulator	Herpes simplex encephalitis?0006649	https://raresource.nih.gov/literature/gene/UNC93B1	81622	ENSG00000110057	13481	https://pubmed.ncbi.nlm.nih.gov/?term=UNC93B1	None	None	7570	172
UNG	uracil DNA glycosylase	Hyper-IgM syndrome type 5?0010581	https://raresource.nih.gov/literature/gene/UNG	7374	ENSG00000076248	12572	https://pubmed.ncbi.nlm.nih.gov/?term=UNG	None	None	7154	1613
UPB1	beta-ureidopropionase 1	Deficiency of beta-ureidopropionase?0016669	https://raresource.nih.gov/literature/gene/UPB1	51733	ENSG00000100024	16297	https://pubmed.ncbi.nlm.nih.gov/?term=UPB1	None	None	10201	105
UPF3B	UPF3B regulator of nonsense mediated mRNA decay	Non-syndromic X-linked intellectual disability?0018640;Syndromic X-linked intellectual disability 14?0024723	https://raresource.nih.gov/literature/gene/UPF3B	65109	ENSG00000125351	20439	https://pubmed.ncbi.nlm.nih.gov/?term=UPF3B	None	None	4507	123
UPK3A	uroplakin 3A	Unilateral renal agenesis?0016804	https://raresource.nih.gov/literature/gene/UPK3A	7380	ENSG00000100373	12580	https://pubmed.ncbi.nlm.nih.gov/?term=UPK3A	None	None	6034	262
UQCC2	ubiquinol-cytochrome c reductase complex assembly factor 2	Mitochondrial complex III deficiency?0008295;Mitochondrial complex III deficiency nuclear type 7?0016015	https://raresource.nih.gov/literature/gene/UQCC2	84300	ENSG00000137288	21237	https://pubmed.ncbi.nlm.nih.gov/?term=UQCC2	None	None	5938	52
UQCC3	ubiquinol-cytochrome c reductase complex assembly factor 3	Mitochondrial complex III deficiency?0008295;Mitochondrial complex III deficiency nuclear type 9?0016060	https://raresource.nih.gov/literature/gene/UQCC3	790955	ENSG00000204922	34399	https://pubmed.ncbi.nlm.nih.gov/?term=UQCC3	None	None	1320	12
UQCRB	ubiquinol-cytochrome c reductase binding protein	Mitochondrial complex III deficiency?0008295;Mitochondrial complex III deficiency nuclear type 3?0015911	https://raresource.nih.gov/literature/gene/UQCRB	7381	ENSG00000156467	12582	https://pubmed.ncbi.nlm.nih.gov/?term=UQCRB	None	None	5154	105
UQCRC1	ubiquinol-cytochrome c reductase core protein 1	Parkinsonism with polyneuropathy?0018028	https://raresource.nih.gov/literature/gene/UQCRC1	7384	ENSG00000010256	12585	https://pubmed.ncbi.nlm.nih.gov/?term=UQCRC1	None	None	6103	174
UQCRC2	ubiquinol-cytochrome c reductase core protein 2	Mitochondrial complex III deficiency?0008295;Mitochondrial complex III deficiency nuclear type 5?0015913	https://raresource.nih.gov/literature/gene/UQCRC2	7385	ENSG00000140740	12586	https://pubmed.ncbi.nlm.nih.gov/?term=UQCRC2	None	None	7301	152
UQCRFS1	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	Mitochondrial complex III deficiency?0008295;Mitochondrial complex III deficiency, nuclear type 10?0016377	https://raresource.nih.gov/literature/gene/UQCRFS1	7386	ENSG00000169021	12587	https://pubmed.ncbi.nlm.nih.gov/?term=UQCRFS1	None	None	3879	1693
UQCRH	ubiquinol-cytochrome c reductase hinge protein	Mitochondrial complex III deficiency, nuclear type 11?0026697	https://raresource.nih.gov/literature/gene/UQCRH	7388	ENSG00000173660	12590	https://pubmed.ncbi.nlm.nih.gov/?term=UQCRH	None	None	5921	65
UQCRQ	ubiquinol-cytochrome c reductase complex III subunit VII	Mitochondrial complex III deficiency?0008295;Mitochondrial complex III deficiency nuclear type 4?0015912	https://raresource.nih.gov/literature/gene/UQCRQ	27089	ENSG00000164405	29594	https://pubmed.ncbi.nlm.nih.gov/?term=UQCRQ	None	None	1700	70
UROC1	urocanate hydratase 1	Urocanate hydratase deficiency?0008539	https://raresource.nih.gov/literature/gene/UROC1	131669	ENSG00000159650	26444	https://pubmed.ncbi.nlm.nih.gov/?term=UROC1	None	None	16681	15
UROD	uroporphyrinogen decarboxylase	Familial porphyria cutanea tarda?0017750;UROD-related inherited porphyria?0026251;Hepatoerythropoietic porphyria?0006169	https://raresource.nih.gov/literature/gene/UROD	7389	ENSG00000126088	12591	https://pubmed.ncbi.nlm.nih.gov/?term=UROD	None	None	1681	5300
UROS	uroporphyrinogen III synthase	Cutaneous porphyria?0004446	https://raresource.nih.gov/literature/gene/UROS	7390	ENSG00000188690	12592	https://pubmed.ncbi.nlm.nih.gov/?term=UROS	None	None	13193	221
USB1	U6 snRNA biogenesis phosphodiesterase 1	Dyskeratosis congenita?0010905;Poikiloderma with neutropenia?0004085	https://raresource.nih.gov/literature/gene/USB1	79650	ENSG00000103005	25792	https://pubmed.ncbi.nlm.nih.gov/?term=USB1	None	None	5894	236
USF3	upstream transcription factor family member 3	Cowden syndrome?0006202	https://raresource.nih.gov/literature/gene/USF3	205717	ENSG00000176542	30494	https://pubmed.ncbi.nlm.nih.gov/?term=USF3	None	None	18647	11
USH1C	USH1 protein network component harmonin	Usher syndrome type 1?0005435;Autosomal recessive nonsyndromic hearing loss 18A?0022592;Hearing loss, autosomal recessive?0018117;Usher syndrome type 1C?0005437	https://raresource.nih.gov/literature/gene/USH1C	10083	ENSG00000006611	12597	https://pubmed.ncbi.nlm.nih.gov/?term=USH1C	None	None	20466	208
USH1G	USH1 protein network component sans	Usher syndrome type 1G?0015404	https://raresource.nih.gov/literature/gene/USH1G	124590	ENSG00000182040	16356	https://pubmed.ncbi.nlm.nih.gov/?term=USH1G	None	None	3329	101
USH2A	usherin	Retinitis pigmentosa 39?0015715;Usher syndrome type 2A?0015241;Usher syndrome type 2?0005440	https://raresource.nih.gov/literature/gene/USH2A	7399	ENSG00000042781	12601	https://pubmed.ncbi.nlm.nih.gov/?term=USH2A	None	None	312075	763
USP18	ubiquitin specific peptidase 18	Pseudo-TORCH syndrome 2?0017875	https://raresource.nih.gov/literature/gene/USP18	11274	ENSG00000184979	12616	https://pubmed.ncbi.nlm.nih.gov/?term=USP18	None	None	8664	442
USP27X	ubiquitin specific peptidase 27 X-linked	Intellectual disability, X-linked 105?0022697;Non-syndromic X-linked intellectual disability?0018640	https://raresource.nih.gov/literature/gene/USP27X	389856	ENSG00000273820	13486	https://pubmed.ncbi.nlm.nih.gov/?term=USP27X	None	None	1705	30
USP45	ubiquitin specific peptidase 45	Leber congenital amaurosis?0000634;Leber congenital amaurosis 19?0016359	https://raresource.nih.gov/literature/gene/USP45	85015	ENSG00000123552	20080	https://pubmed.ncbi.nlm.nih.gov/?term=USP45	None	None	32130	122
USP48	ubiquitin specific peptidase 48	Hearing loss, autosomal dominant 85?0026718;Autosomal dominant nonsyndromic hearing loss?0016791	https://raresource.nih.gov/literature/gene/USP48	84196	ENSG00000090686	18533	https://pubmed.ncbi.nlm.nih.gov/?term=USP48	None	None	42982	112
USP53	ubiquitin specific peptidase 53	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss?0025583	https://raresource.nih.gov/literature/gene/USP53	54532	ENSG00000145390	29255	https://pubmed.ncbi.nlm.nih.gov/?term=USP53	None	None	28355	56
USP7	ubiquitin specific peptidase 7	Hao-Fountain syndrome due to USP7 mutation?0026917	https://raresource.nih.gov/literature/gene/USP7	7874	ENSG00000187555	12630	https://pubmed.ncbi.nlm.nih.gov/?term=USP7	None	None	40456	2359
USP8	ubiquitin specific peptidase 8	Autosomal recessive spastic paraplegia type 59?0021695;Pituitary dependent hypercortisolism?0012867	https://raresource.nih.gov/literature/gene/USP8	9101	ENSG00000138592	12631	https://pubmed.ncbi.nlm.nih.gov/?term=USP8	None	None	28533	417
USP9X	ubiquitin specific peptidase 9 X-linked	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability?0013638;Non-syndromic X-linked intellectual disability?0018640;Intellectual disability, X-linked 99?0022693;Intellectual disability, X-linked 99, syndromic, female-restricted?0024732	https://raresource.nih.gov/literature/gene/USP9X	8239	ENSG00000124486	12632	https://pubmed.ncbi.nlm.nih.gov/?term=USP9X	None	None	37376	593
USP9Y	ubiquitin specific peptidase 9 Y-linked	Spermatogenic failure, Y-linked, 2?0018504	https://raresource.nih.gov/literature/gene/USP9Y	8287	ENSG00000114374	12633	https://pubmed.ncbi.nlm.nih.gov/?term=USP9Y	None	None	20136	142
UTP4	UTP4 small subunit processome component	Hereditary North American Indian childhood cirrhosis?0017037	https://raresource.nih.gov/literature/gene/UTP4	84916	ENSG00000141076	1983	https://pubmed.ncbi.nlm.nih.gov/?term=UTP4	None	None	20702	22
UVSSA	UV stimulated scaffold protein A	UV-sensitive syndrome?0010947;UV-sensitive syndrome 3?0015828	https://raresource.nih.gov/literature/gene/UVSSA	57654	ENSG00000163945	29304	https://pubmed.ncbi.nlm.nih.gov/?term=UVSSA	None	None	23364	62
VAC14	VAC14 component of PIKFYVE complex	Striatonigral degeneration, childhood-onset?0017918	https://raresource.nih.gov/literature/gene/VAC14	55697	ENSG00000103043	25507	https://pubmed.ncbi.nlm.nih.gov/?term=VAC14	None	None	28892	2901
VAMP1	vesicle associated membrane protein 1	Spastic ataxia 1?0017206;Myasthenic syndrome, congenital, 25, presynaptic?0016341	https://raresource.nih.gov/literature/gene/VAMP1	6843	ENSG00000139190	12642	https://pubmed.ncbi.nlm.nih.gov/?term=VAMP1	None	None	3353	187
VANGL1	VANGL planar cell polarity protein 1	Familial caudal dysgenesis?0000215	https://raresource.nih.gov/literature/gene/VANGL1	81839	ENSG00000173218	15512	https://pubmed.ncbi.nlm.nih.gov/?term=VANGL1	None	None	22695	201
VAPB	VAMP associated protein B and C	Adult-onset proximal spinal muscular atrophy, autosomal dominant?0017102;Amyotrophic lateral sclerosis?0005786;Amyotrophic lateral sclerosis type 8?0010499	https://raresource.nih.gov/literature/gene/VAPB	9217	ENSG00000124164	12649	https://pubmed.ncbi.nlm.nih.gov/?term=VAPB	None	None	20035	416
VARS2	valyl-tRNA synthetase 2, mitochondrial	Combined oxidative phosphorylation defect type 20?0017699	https://raresource.nih.gov/literature/gene/VARS2	57176	ENSG00000137411	21642	https://pubmed.ncbi.nlm.nih.gov/?term=VARS2	None	None	5574	79
VAX1	ventral anterior homeobox 1	Microphthalmia, syndromic 11?0024943	https://raresource.nih.gov/literature/gene/VAX1	11023	ENSG00000148704	12660	https://pubmed.ncbi.nlm.nih.gov/?term=VAX1	None	None	4953	90
VCAN	versican	Wagner disease?0007871	https://raresource.nih.gov/literature/gene/VCAN	1462	ENSG00000038427	2464	https://pubmed.ncbi.nlm.nih.gov/?term=VCAN	None	None	41602	2011
VCL	vinculin	Hypertrophic cardiomyopathy 15?0024908;Dilated cardiomyopathy 1W?0015515;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/VCL	7414	ENSG00000035403	12665	https://pubmed.ncbi.nlm.nih.gov/?term=VCL	None	None	43804	4100
VCP	valosin containing protein	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia?0010899;Adult-onset distal myopathy due to VCP mutation?0021492;Amyotrophic lateral sclerosis?0005786;Spastic paraplegia-Paget disease of bone syndrome?0021491;Frontotemporal dementia and/or amyotrophic lateral sclerosis 6?0015733;Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1?0024608;Charcot-Marie-Tooth disease type 2Y?0017714;Frontotemporal dementia with motor neuron disease?0017273	https://raresource.nih.gov/literature/gene/VCP	7415	ENSG00000165280	12666	https://pubmed.ncbi.nlm.nih.gov/?term=VCP	None	None	8217	2773
VDR	vitamin D receptor	Vitamin D-dependent rickets type II with alopecia?0018169;Vitamin D-dependent rickets, type 2?0016805	https://raresource.nih.gov/literature/gene/VDR	7421	ENSG00000111424	12679	https://pubmed.ncbi.nlm.nih.gov/?term=VDR	None	None	26326	11374
VEGFC	vascular endothelial growth factor C	Lymphatic malformation 4?0016468;Congenital primary lymphedema of Gordon?0022307	https://raresource.nih.gov/literature/gene/VEGFC	7424	ENSG00000150630	12682	https://pubmed.ncbi.nlm.nih.gov/?term=VEGFC	None	None	43934	1797
VEZF1	vascular endothelial zinc finger 1	Cardiomyopathy, dilated, 100?0026727;Familial isolated dilated cardiomyopathy?0027293	https://raresource.nih.gov/literature/gene/VEZF1	7716	ENSG00000136451	12949	https://pubmed.ncbi.nlm.nih.gov/?term=VEZF1	None	None	6087	94
VHL	von Hippel-Lindau tumor suppressor	Von Hippel-Lindau syndrome?0007855;Chuvash polycythemia?0017176;Pheochromocytoma?0015105;Nonpapillary renal cell carcinoma?0024575	https://raresource.nih.gov/literature/gene/VHL	7428	ENSG00000134086	12687	https://pubmed.ncbi.nlm.nih.gov/?term=VHL	None	None	10427	5061
VIM	vimentin	Cataract 30?0024545;Pulverulent cataract?0016884	https://raresource.nih.gov/literature/gene/VIM	7431	ENSG00000026025	12692	https://pubmed.ncbi.nlm.nih.gov/?term=VIM	None	None	5051	33761
VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	Arthrogryposis, renal dysfunction, and cholestasis 2?0015658;Arthrogryposis with renal dysfunction and cholestasis syndrome?0000794	https://raresource.nih.gov/literature/gene/VIPAS39	63894	ENSG00000151445	20347	https://pubmed.ncbi.nlm.nih.gov/?term=VIPAS39	None	None	7918	49
VKORC1	vitamin K epoxide reductase complex subunit 1	Vitamin K-dependent clotting factors, combined deficiency of, type 2?0018196	https://raresource.nih.gov/literature/gene/VKORC1	79001	ENSG00000167397	23663	https://pubmed.ncbi.nlm.nih.gov/?term=VKORC1	None	None	2305	1503
VLDLR	very low density lipoprotein receptor	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1?0025423;Dysequilibrium syndrome?0001998	https://raresource.nih.gov/literature/gene/VLDLR	7436	ENSG00000147852	12698	https://pubmed.ncbi.nlm.nih.gov/?term=VLDLR	None	None	18304	982
VMA12	vacuolar ATPase assembly factor VMA12	TMEM199-CDG?0017825	https://raresource.nih.gov/literature/gene/VMA12	147007	ENSG00000244045	18085	https://pubmed.ncbi.nlm.nih.gov/?term=VMA12	None	None	None	35
VMA21	vacuolar ATPase assembly factor VMA21	X-linked myopathy with excessive autophagy?0003892	https://raresource.nih.gov/literature/gene/VMA21	203547	ENSG00000160131	22082	https://pubmed.ncbi.nlm.nih.gov/?term=VMA21	None	None	3104	69
VMA22	vacuolar ATPase assembly factor VMA22	CCDC115-CDG?0017845	https://raresource.nih.gov/literature/gene/VMA22	84317	ENSG00000136710	28178	https://pubmed.ncbi.nlm.nih.gov/?term=VMA22	None	None	None	165
VPS11	VPS11 core subunit of CORVET and HOPS complexes	Dystonia 32?0025578;Hypomyelinating leukodystrophy 12?0017837	https://raresource.nih.gov/literature/gene/VPS11	55823	ENSG00000160695	14583	https://pubmed.ncbi.nlm.nih.gov/?term=VPS11	None	None	5648	180
VPS13A	vacuolar protein sorting 13 homolog A	Chorea-acanthocytosis?0003956	https://raresource.nih.gov/literature/gene/VPS13A	23230	ENSG00000197969	1908	https://pubmed.ncbi.nlm.nih.gov/?term=VPS13A	None	None	98882	312
VPS13B	vacuolar protein sorting 13 homolog B	Cohen syndrome?0006126	https://raresource.nih.gov/literature/gene/VPS13B	157680	ENSG00000132549	2183	https://pubmed.ncbi.nlm.nih.gov/?term=VPS13B	None	None	326142	437
VPS13C	vacuolar protein sorting 13 homolog C	Autosomal recessive early-onset Parkinson disease 23?0018610;Young-onset Parkinson disease?0016610	https://raresource.nih.gov/literature/gene/VPS13C	54832	ENSG00000129003	23594	https://pubmed.ncbi.nlm.nih.gov/?term=VPS13C	None	None	57091	107
VPS13D	vacuolar protein sorting 13 homolog D	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome?0004952	https://raresource.nih.gov/literature/gene/VPS13D	55187	ENSG00000048707	23595	https://pubmed.ncbi.nlm.nih.gov/?term=VPS13D	None	None	102061	59
VPS16	VPS16 core subunit of CORVET and HOPS complexes	Dystonia 30?0025479	https://raresource.nih.gov/literature/gene/VPS16	64601	ENSG00000215305	14584	https://pubmed.ncbi.nlm.nih.gov/?term=VPS16	None	None	8718	96
VPS33A	VPS33A core subunit of CORVET and HOPS complexes	Mucopolysaccharidosis-plus syndrome?0017944	https://raresource.nih.gov/literature/gene/VPS33A	65082	ENSG00000139719	18179	https://pubmed.ncbi.nlm.nih.gov/?term=VPS33A	None	None	11220	54
VPS33B	VPS33B late endosome and lysosome associated	Cholestasis, progressive familial intrahepatic, 12?0025680;Arthrogryposis, renal dysfunction, and cholestasis 1?0015139;Arthrogryposis with renal dysfunction and cholestasis syndrome?0000794	https://raresource.nih.gov/literature/gene/VPS33B	26276	ENSG00000184056	12712	https://pubmed.ncbi.nlm.nih.gov/?term=VPS33B	None	None	8078	122
VPS35	VPS35 retromer complex component	Parkinson disease 17?0018478	https://raresource.nih.gov/literature/gene/VPS35	55737	ENSG00000069329	13487	https://pubmed.ncbi.nlm.nih.gov/?term=VPS35	None	None	8653	536
VPS35L	VPS35 endosomal protein sorting factor like	Ritscher-Schinzel syndrome?0005666;Ritscher-Schinzel syndrome 3?0016426	https://raresource.nih.gov/literature/gene/VPS35L	57020	ENSG00000103544	24641	https://pubmed.ncbi.nlm.nih.gov/?term=VPS35L	None	None	49771	25
VPS37A	VPS37A subunit of ESCRT-I	Hereditary spastic paraplegia 53?0017445	https://raresource.nih.gov/literature/gene/VPS37A	137492	ENSG00000155975	24928	https://pubmed.ncbi.nlm.nih.gov/?term=VPS37A	None	None	22898	55
VPS41	VPS41 subunit of HOPS complex	Spinocerebellar ataxia, autosomal recessive 29?0025534	https://raresource.nih.gov/literature/gene/VPS41	27072	ENSG00000006715	12713	https://pubmed.ncbi.nlm.nih.gov/?term=VPS41	None	None	62669	134
VPS45	vacuolar protein sorting 45 homolog	Congenital neutropenia-myelofibrosis-nephromegaly syndrome?0017585	https://raresource.nih.gov/literature/gene/VPS45	11311	ENSG00000136631	14579	https://pubmed.ncbi.nlm.nih.gov/?term=VPS45	None	None	30297	2735
VPS4A	vacuolar protein sorting 4 homolog A	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome?0018020	https://raresource.nih.gov/literature/gene/VPS4A	27183	ENSG00000132612	13488	https://pubmed.ncbi.nlm.nih.gov/?term=VPS4A	None	None	6131	435
VPS51	VPS51 subunit of GARP complex	Pontocerebellar hypoplasia, type 13?0018031	https://raresource.nih.gov/literature/gene/VPS51	738	ENSG00000149823	1172	https://pubmed.ncbi.nlm.nih.gov/?term=VPS51	None	None	3742	889
VPS53	VPS53 subunit of GARP complex	Pontocerebellar hypoplasia type 2E?0018348	https://raresource.nih.gov/literature/gene/VPS53	55275	ENSG00000141252	25608	https://pubmed.ncbi.nlm.nih.gov/?term=VPS53	None	None	64652	59
VRK1	VRK serine/threonine kinase 1	Microcephaly-complex motor and sensory axonal neuropathy syndrome?0021762;Congenital pontocerebellar hypoplasia type 1?0010704;Neuronopathy, distal hereditary motor, autosomal recessive 10?0026890;Pontocerebellar hypoplasia type 1A?0015416	https://raresource.nih.gov/literature/gene/VRK1	7443	ENSG00000100749	12718	https://pubmed.ncbi.nlm.nih.gov/?term=VRK1	None	None	20151	267
VSX1	visual system homeobox 1	Posterior polymorphous corneal dystrophy?0016882;Keratoconus 1?0024582	https://raresource.nih.gov/literature/gene/VSX1	30813	ENSG00000100987	12723	https://pubmed.ncbi.nlm.nih.gov/?term=VSX1	None	None	4276	830
VSX2	visual system homeobox 2	Microphthalmia, isolated, with coloboma?0003644;Microphthalmia, isolated, with coloboma 3?0015471;Isolated microphthalmia 2?0024863	https://raresource.nih.gov/literature/gene/VSX2	338917	ENSG00000119614	1975	https://pubmed.ncbi.nlm.nih.gov/?term=VSX2	None	None	8927	380
VWA1	von Willebrand factor A domain containing 1	Neuronopathy, distal hereditary motor, autosomal recessive 7?0018444	https://raresource.nih.gov/literature/gene/VWA1	64856	ENSG00000179403	30910	https://pubmed.ncbi.nlm.nih.gov/?term=VWA1	None	None	5258	56
VWA3B	von Willebrand factor A domain containing 3B	Spinocerebellar ataxia, autosomal recessive 22?0025026	https://raresource.nih.gov/literature/gene/VWA3B	200403	ENSG00000168658	28385	https://pubmed.ncbi.nlm.nih.gov/?term=VWA3B	None	None	82532	8
VWA8	von Willebrand factor A domain containing 8	Retinitis pigmentosa 97?0026817	https://raresource.nih.gov/literature/gene/VWA8	23078	ENSG00000102763	29071	https://pubmed.ncbi.nlm.nih.gov/?term=VWA8	None	None	91113	28
VWF	von Willebrand factor	Von Willebrand disease type 2?0017020;Von Willebrand disease type 2M?0017023;Von Willebrand disease type 2N?0017024;Von Willebrand disease type 3?0017025;Von Willebrand disease type 2A?0017021;Von Willebrand disease type 2B?0017022;Von Willebrand disease type 1?0017019	https://raresource.nih.gov/literature/gene/VWF	7450	ENSG00000110799	12726	https://pubmed.ncbi.nlm.nih.gov/?term=VWF	None	None	48616	21607
WAC	WW domain containing adaptor with coiled-coil	DeSanto-Shinawi syndrome due to WAC point mutation?0017839	https://raresource.nih.gov/literature/gene/WAC	51322	ENSG00000095787	17327	https://pubmed.ncbi.nlm.nih.gov/?term=WAC	None	None	39440	102
WARS1	tryptophanyl-tRNA synthetase 1	Neuronopathy, distal hereditary motor, type 9?0026000;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/WARS1	7453	ENSG00000140105	12729	https://pubmed.ncbi.nlm.nih.gov/?term=WARS1	None	None	11940	556
WARS2	tryptophanyl tRNA synthetase 2, mitochondrial	Parkinsonism-dystonia 3, childhood-onset?0025606;Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures?0018012	https://raresource.nih.gov/literature/gene/WARS2	10352	ENSG00000116874	12730	https://pubmed.ncbi.nlm.nih.gov/?term=WARS2	None	None	38368	32
WAS	WASP actin nucleation promoting factor	Wiskott-Aldrich syndrome?0007895;X-linked severe congenital neutropenia?0003981;Thrombocytopenia 1?0005176	https://raresource.nih.gov/literature/gene/WAS	7454	ENSG00000015285	12731	https://pubmed.ncbi.nlm.nih.gov/?term=WAS	None	None	2756	1619
WASHC4	WASH complex subunit 4	Intellectual disability, autosomal recessive 43?0022565;Autosomal recessive non-syndromic intellectual disability?0018643	https://raresource.nih.gov/literature/gene/WASHC4	23325	ENSG00000136051	29174	https://pubmed.ncbi.nlm.nih.gov/?term=WASHC4	None	None	15001	22
WASHC5	WASH complex subunit 5	Ritscher-Schinzel syndrome?0005666;Hereditary spastic paraplegia 8?0009591;Ritscher-Schinzel syndrome 1?0015160	https://raresource.nih.gov/literature/gene/WASHC5	9897	ENSG00000164961	28984	https://pubmed.ncbi.nlm.nih.gov/?term=WASHC5	None	None	25117	76
WBP2	WW domain binding protein 2	Hearing loss, autosomal recessive?0018117;Hearing loss, autosomal recessive 107?0022657	https://raresource.nih.gov/literature/gene/WBP2	23558	ENSG00000132471	12738	https://pubmed.ncbi.nlm.nih.gov/?term=WBP2	None	None	5360	63
WDFY3	WD repeat and FYVE domain containing 3	Microcephaly 18, primary, autosomal dominant?0016233	https://raresource.nih.gov/literature/gene/WDFY3	23001	ENSG00000163625	20751	https://pubmed.ncbi.nlm.nih.gov/?term=WDFY3	None	None	106875	119
WDPCP	WD repeat containing planar cell polarity effector	Bardet-Biedl syndrome 15?0016039;Bardet-Biedl syndrome?0006866;Heart defect - tongue hamartoma - polysyndactyly syndrome?0004166	https://raresource.nih.gov/literature/gene/WDPCP	51057	ENSG00000143951	28027	https://pubmed.ncbi.nlm.nih.gov/?term=WDPCP	None	None	252282	42
WDR1	WD repeat domain 1	Lazy leukocyte syndrome?0024584	https://raresource.nih.gov/literature/gene/WDR1	9948	ENSG00000071127	12754	https://pubmed.ncbi.nlm.nih.gov/?term=WDR1	None	None	21486	350
WDR11	WD repeat domain 11	Hypogonadism with anosmia?0010771;Intellectual developmental disorder, autosomal recessive 78?0026722;Hypogonadotropic hypogonadism 14 with or without anosmia?0015857;Hypogonadotropic hypogonadism?0016533	https://raresource.nih.gov/literature/gene/WDR11	55717	ENSG00000120008	13831	https://pubmed.ncbi.nlm.nih.gov/?term=WDR11	None	None	22073	165
WDR19	WD repeat domain 19	Cranioectodermal dysplasia 4?0015796;Renal dysplasia and retinal aplasia?0000322;Jeune thoracic dystrophy?0003049;Nephronophthisis 13?0024942;Cranioectodermal dysplasia?0000359;Asphyxiating thoracic dystrophy 5?0015795;Senior-Loken syndrome 8?0016081	https://raresource.nih.gov/literature/gene/WDR19	57728	ENSG00000157796	18340	https://pubmed.ncbi.nlm.nih.gov/?term=WDR19	None	None	40134	107
WDR26	WD repeat domain 26	Skraban-Deardorff syndrome?0017953	https://raresource.nih.gov/literature/gene/WDR26	80232	ENSG00000162923	21208	https://pubmed.ncbi.nlm.nih.gov/?term=WDR26	None	None	21348	216
WDR35	WD repeat domain 35	Short-rib thoracic dysplasia 7 with or without polydactyly?0015756;Cranioectodermal dysplasia?0000359;Cranioectodermal dysplasia 2?0015680	https://raresource.nih.gov/literature/gene/WDR35	57539	ENSG00000118965	29250	https://pubmed.ncbi.nlm.nih.gov/?term=WDR35	None	None	29539	72
WDR37	WD repeat domain 37	Neurooculocardiogenitourinary syndrome?0027365	https://raresource.nih.gov/literature/gene/WDR37	22884	ENSG00000047056	31406	https://pubmed.ncbi.nlm.nih.gov/?term=WDR37	None	None	13225	22
WDR4	WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit	Galloway-Mowat syndrome?0000065;Galloway-Mowat syndrome 6?0016343	https://raresource.nih.gov/literature/gene/WDR4	10785	ENSG00000160193	12756	https://pubmed.ncbi.nlm.nih.gov/?term=WDR4	None	None	17087	4
WDR45	WD repeat domain 45	Neurodegeneration with brain iron accumulation 5?0012570	https://raresource.nih.gov/literature/gene/WDR45	11152	ENSG00000196998	28912	https://pubmed.ncbi.nlm.nih.gov/?term=WDR45	None	None	6524	195
WDR48	WD repeat domain 48	Autosomal recessive spastic paraplegia type 60?0021696	https://raresource.nih.gov/literature/gene/WDR48	57599	ENSG00000114742	30914	https://pubmed.ncbi.nlm.nih.gov/?term=WDR48	None	None	15385	530
WDR62	WD repeat domain 62	Autosomal recessive primary microcephaly?0012117;Microcephaly 2, primary, autosomal recessive, with or without cortical malformations?0015366	https://raresource.nih.gov/literature/gene/WDR62	284403	ENSG00000075702	24502	https://pubmed.ncbi.nlm.nih.gov/?term=WDR62	None	None	15476	143
WDR72	WD repeat domain 72	Amelogenesis imperfecta type 2?0008349;Amelogenesis imperfecta hypomaturation type 2A3?0015630;Autosomal recessive distal renal tubular acidosis?0004666	https://raresource.nih.gov/literature/gene/WDR72	256764	ENSG00000166415	26790	https://pubmed.ncbi.nlm.nih.gov/?term=WDR72	None	None	64454	82
WDR73	WD repeat domain 73	Galloway-Mowat syndrome?0000065;Galloway-Mowat syndrome 1?0015199;CAMOS syndrome?0009977	https://raresource.nih.gov/literature/gene/WDR73	84942	ENSG00000177082	25928	https://pubmed.ncbi.nlm.nih.gov/?term=WDR73	None	None	5061	27
WDR81	WD repeat domain 81	Hydrocephalus, congenital, 3, with brain anomalies?0025977;Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2?0015473;Dysequilibrium syndrome?0001998	https://raresource.nih.gov/literature/gene/WDR81	124997	ENSG00000167716	26600	https://pubmed.ncbi.nlm.nih.gov/?term=WDR81	None	None	8938	42
WEE2	WEE2 oocyte meiosis inhibiting kinase	Female infertility due to oocyte meiotic arrest?0017887	https://raresource.nih.gov/literature/gene/WEE2	494551	ENSG00000214102	19684	https://pubmed.ncbi.nlm.nih.gov/?term=WEE2	None	None	8487	88
WFS1	wolframin ER transmembrane glycoprotein	Autosomal dominant nonsyndromic hearing loss 6?0018101;Wolfram syndrome?0007898;Wolfram syndrome 1?0024648;Autosomal dominant nonsyndromic hearing loss?0016791;Cataract 41?0018234;Wolfram-like syndrome?0017683;Early-onset nuclear cataract?0016887	https://raresource.nih.gov/literature/gene/WFS1	7466	ENSG00000109501	12762	https://pubmed.ncbi.nlm.nih.gov/?term=WFS1	None	None	18221	692
WHRN	whirlin	Autosomal recessive nonsyndromic hearing loss 31?0022602;Hearing loss, autosomal recessive?0018117;Usher syndrome type 2?0005440;Usher syndrome type 2D?0015514	https://raresource.nih.gov/literature/gene/WHRN	25861	ENSG00000095397	16361	https://pubmed.ncbi.nlm.nih.gov/?term=WHRN	None	None	38766	154
WIPF1	WAS/WASL interacting protein family member 1	Wiskott-Aldrich syndrome 2?0015809	https://raresource.nih.gov/literature/gene/WIPF1	7456	ENSG00000115935	12736	https://pubmed.ncbi.nlm.nih.gov/?term=WIPF1	None	None	43260	228
WNK1	WNK lysine deficient protein kinase 1	Pseudohypoaldosteronism type 2C?0016777;Hereditary sensory and autonomic neuropathy type 2?0003976;Neuropathy, hereditary sensory and autonomic, type 2A?0015129	https://raresource.nih.gov/literature/gene/WNK1	65125	ENSG00000060237	14540	https://pubmed.ncbi.nlm.nih.gov/?term=WNK1	None	None	45622	15966
WNK3	WNK lysine deficient protein kinase 3	Prieto syndrome?0004482	https://raresource.nih.gov/literature/gene/WNK3	65267	ENSG00000196632	14543	https://pubmed.ncbi.nlm.nih.gov/?term=WNK3	None	None	30767	96
WNK4	WNK lysine deficient protein kinase 4	Pseudohypoaldosteronism type 2B?0016776	https://raresource.nih.gov/literature/gene/WNK4	65266	ENSG00000126562	14544	https://pubmed.ncbi.nlm.nih.gov/?term=WNK4	None	None	5128	433
WNT1	Wnt family member 1	Osteogenesis imperfecta type 15?0015919	https://raresource.nih.gov/literature/gene/WNT1	7471	ENSG00000125084	12774	https://pubmed.ncbi.nlm.nih.gov/?term=WNT1	None	None	2710	2442
WNT10A	Wnt family member 10A	Odonto-onycho-dermal dysplasia?0004054;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome?0002057;Schöpf-Schulz-Passarge syndrome?0016649;Tooth agenesis, selective, 4?0018245;Ectodermal dysplasia WNT10A related?0026153;Hypodontia?0016908	https://raresource.nih.gov/literature/gene/WNT10A	80326	ENSG00000135925	13829	https://pubmed.ncbi.nlm.nih.gov/?term=WNT10A	None	None	8039	486
WNT10B	Wnt family member 10B	Ectrodactyly?0006319;Hypodontia?0016908;Tooth agenesis, selective, 8?0018250;Split hand-foot malformation 6?0015166	https://raresource.nih.gov/literature/gene/WNT10B	7480	ENSG00000169884	12775	https://pubmed.ncbi.nlm.nih.gov/?term=WNT10B	None	None	3021	655
WNT3	Wnt family member 3	Tetraamelia syndrome 1?0015238;Tetraamelia-multiple malformations syndrome?0000386	https://raresource.nih.gov/literature/gene/WNT3	7473	ENSG00000108379	12782	https://pubmed.ncbi.nlm.nih.gov/?term=WNT3	None	None	19155	697
WNT4	Wnt family member 4	Mullerian aplasia and hyperandrogenism?0017195;SERKAL syndrome?0010302;Mayer-Rokitansky-Küster-Hauser syndrome type 2?0005513	https://raresource.nih.gov/literature/gene/WNT4	54361	ENSG00000162552	12783	https://pubmed.ncbi.nlm.nih.gov/?term=WNT4	None	None	10562	1271
WNT5A	Wnt family member 5A	Autosomal dominant Robinow syndrome?0016620;Autosomal dominant Robinow syndrome 1?0002013	https://raresource.nih.gov/literature/gene/WNT5A	7474	ENSG00000114251	12784	https://pubmed.ncbi.nlm.nih.gov/?term=WNT5A	None	None	11197	2921
WNT7A	Wnt family member 7A	Schinzel phocomelia syndrome?0009212;Fuhrmann syndrome?0002410	https://raresource.nih.gov/literature/gene/WNT7A	7476	ENSG00000154764	12786	https://pubmed.ncbi.nlm.nih.gov/?term=WNT7A	None	None	28161	696
WNT9B	Wnt family member 9B	Bilateral renal agenesis?0016579	https://raresource.nih.gov/literature/gene/WNT9B	7484	ENSG00000158955	12779	https://pubmed.ncbi.nlm.nih.gov/?term=WNT9B	None	None	12526	210
WRAP53	WD repeat containing antisense to TP53	Dyskeratosis congenita?0010905;Dyskeratosis congenita, autosomal recessive 3?0015740	https://raresource.nih.gov/literature/gene/WRAP53	55135	ENSG00000141499	25522	https://pubmed.ncbi.nlm.nih.gov/?term=WRAP53	None	None	6666	131
WRN	WRN RecQ like helicase	Werner syndrome?0007885	https://raresource.nih.gov/literature/gene/WRN	7486	ENSG00000165392	12791	https://pubmed.ncbi.nlm.nih.gov/?term=WRN	None	None	61326	1220
WT1	WT1 transcription factor	Nephrotic syndrome, type 4?0015210;Frasier syndrome?0002375;Aniridia 1?0025407;Kidney Wilms tumor?0007892;Mesothelioma, malignant?0007026;Drash syndrome?0005576;11p partial monosomy syndrome?0005528;Meacham syndrome?0003432;Familial idiopathic steroid-resistant nephrotic syndrome?0003946;Wilms tumor 1?0015124	https://raresource.nih.gov/literature/gene/WT1	7490	ENSG00000184937	12796	https://pubmed.ncbi.nlm.nih.gov/?term=WT1	None	None	22897	6206
WWOX	WW domain containing oxidoreductase	Developmental and epileptic encephalopathy, 28?0016069;Undetermined early-onset epileptic encephalopathy?0015028;Autosomal recessive spinocerebellar ataxia 12?0017313;Carcinoma of esophagus?0006383;46,XY partial gonadal dysgenesis?0017211	https://raresource.nih.gov/literature/gene/WWOX	51741	ENSG00000186153	12799	https://pubmed.ncbi.nlm.nih.gov/?term=WWOX	None	None	485166	916
XDH	xanthine dehydrogenase	Hereditary xanthinuria type 1?0005621	https://raresource.nih.gov/literature/gene/XDH	7498	ENSG00000158125	12805	https://pubmed.ncbi.nlm.nih.gov/?term=XDH	None	None	34872	4528
XIAP	X-linked inhibitor of apoptosis	X-linked lymphoproliferative disease due to XIAP deficiency?0010916	https://raresource.nih.gov/literature/gene/XIAP	331	ENSG00000101966	592	https://pubmed.ncbi.nlm.nih.gov/?term=XIAP	None	None	14164	52
XK	X-linked Kx blood group antigen, Kell and VPS13A binding protein	McLeod neuroacanthocytosis syndrome?0010731	https://raresource.nih.gov/literature/gene/XK	7504	ENSG00000047597	12811	https://pubmed.ncbi.nlm.nih.gov/?term=XK	None	None	6723	6978
XPA	XPA, DNA damage recognition and repair factor	Xeroderma pigmentosum?0007910;Xeroderma pigmentosum group A?0005624	https://raresource.nih.gov/literature/gene/XPA	7507	ENSG00000136936	12814	https://pubmed.ncbi.nlm.nih.gov/?term=XPA	None	None	9690	1116
XPC	XPC complex subunit, DNA damage recognition and repair factor	Xeroderma pigmentosum?0007910;Xeroderma pigmentosum, group C?0005626	https://raresource.nih.gov/literature/gene/XPC	7508	ENSG00000154767	12816	https://pubmed.ncbi.nlm.nih.gov/?term=XPC	None	None	15119	1580
XPNPEP3	X-prolyl aminopeptidase 3	Late-onset nephronophthisis?0016824;Nephronophthisis-like nephropathy 1?0018180	https://raresource.nih.gov/literature/gene/XPNPEP3	63929	ENSG00000196236	28052	https://pubmed.ncbi.nlm.nih.gov/?term=XPNPEP3	None	None	20241	39
XPR1	xenotropic and polytropic retrovirus receptor 1	Bilateral striopallidodentate calcinosis?0006406;Basal ganglia calcification, idiopathic, 6?0016107	https://raresource.nih.gov/literature/gene/XPR1	9213	ENSG00000143324	12827	https://pubmed.ncbi.nlm.nih.gov/?term=XPR1	None	None	102376	238
XRCC1	X-ray repair cross complementing 1	Spinocerebellar ataxia, autosomal recessive 26?0025787	https://raresource.nih.gov/literature/gene/XRCC1	7515	ENSG00000073050	12828	https://pubmed.ncbi.nlm.nih.gov/?term=XRCC1	None	None	10679	2637
XRCC2	X-ray repair cross complementing 2	Fanconi anemia?0006425;Premature ovarian failure 17?0025647;Fanconi anemia complementation group U?0016215	https://raresource.nih.gov/literature/gene/XRCC2	7516	ENSG00000196584	12829	https://pubmed.ncbi.nlm.nih.gov/?term=XRCC2	None	None	14817	457
XRCC3	X-ray repair cross complementing 3	Familial cancer of breast?0017142	https://raresource.nih.gov/literature/gene/XRCC3	7517	ENSG00000126215	12830	https://pubmed.ncbi.nlm.nih.gov/?term=XRCC3	None	None	6326	959
XRCC4	X-ray repair cross complementing 4	Short stature, microcephaly, and endocrine dysfunction?0018483	https://raresource.nih.gov/literature/gene/XRCC4	7518	ENSG00000152422	12831	https://pubmed.ncbi.nlm.nih.gov/?term=XRCC4	None	None	100927	826
XYLT1	xylosyltransferase 1	Desbuquois dysplasia 2?0016466;Desbuquois syndrome?0001818;XYLT1-congenital disorder of glycosylation?0021599	https://raresource.nih.gov/literature/gene/XYLT1	64131	ENSG00000103489	15516	https://pubmed.ncbi.nlm.nih.gov/?term=XYLT1	None	None	100677	154
XYLT2	xylosyltransferase 2	Spondylo-ocular syndrome?0016740	https://raresource.nih.gov/literature/gene/XYLT2	64132	ENSG00000015532	15517	https://pubmed.ncbi.nlm.nih.gov/?term=XYLT2	None	None	6393	925
YAP1	Yes1 associated transcriptional regulator	Uveal coloboma-cleft lip and palate-intellectual disability?0001440	https://raresource.nih.gov/literature/gene/YAP1	10413	ENSG00000137693	16262	https://pubmed.ncbi.nlm.nih.gov/?term=YAP1	None	None	32825	11276
YARS1	tyrosyl-tRNA synthetase 1	Charcot-Marie-Tooth disease dominant intermediate C?0012439	https://raresource.nih.gov/literature/gene/YARS1	8565	ENSG00000134684	12840	https://pubmed.ncbi.nlm.nih.gov/?term=YARS1	None	None	18037	254
YARS2	tyrosyl-tRNA synthetase 2	Myopathy, lactic acidosis, and sideroblastic anemia?0003885;Myopathy, lactic acidosis, and sideroblastic anemia 2?0015676	https://raresource.nih.gov/literature/gene/YARS2	51067	ENSG00000139131	24249	https://pubmed.ncbi.nlm.nih.gov/?term=YARS2	None	None	3166	226
YEATS2	YEATS domain containing 2	Epilepsy, familial adult myoclonic, 4?0018085;Benign adult familial myoclonic epilepsy?0016758	https://raresource.nih.gov/literature/gene/YEATS2	55689	ENSG00000163872	25489	https://pubmed.ncbi.nlm.nih.gov/?term=YEATS2	None	None	50152	51
YIF1B	Yip1 interacting factor homolog B, membrane trafficking protein	Kaya-Barakat-Masson syndrome?0018537	https://raresource.nih.gov/literature/gene/YIF1B	90522	ENSG00000167645	30511	https://pubmed.ncbi.nlm.nih.gov/?term=YIF1B	None	None	6030	20
YIPF5	Yip1 domain family member 5	Microcephaly, epilepsy, and diabetes syndrome 2?0018439	https://raresource.nih.gov/literature/gene/YIPF5	81555	ENSG00000145817	24877	https://pubmed.ncbi.nlm.nih.gov/?term=YIPF5	None	None	5390	34
YME1L1	YME1 like 1 ATPase	Optic atrophy 11?0018201	https://raresource.nih.gov/literature/gene/YME1L1	10730	ENSG00000136758	12843	https://pubmed.ncbi.nlm.nih.gov/?term=YME1L1	None	None	17745	55
YRDC	yrdC N6-threonylcarbamoyltransferase domain containing	Galloway-Mowat syndrome?0000065;Galloway-Mowat syndrome 10?0025575	https://raresource.nih.gov/literature/gene/YRDC	79693	ENSG00000196449	28905	https://pubmed.ncbi.nlm.nih.gov/?term=YRDC	None	None	2175	72
YWHAG	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma	Undetermined early-onset epileptic encephalopathy?0015028;Developmental and epileptic encephalopathy, 56?0025795	https://raresource.nih.gov/literature/gene/YWHAG	7532	ENSG00000170027	12852	https://pubmed.ncbi.nlm.nih.gov/?term=YWHAG	None	None	14263	173
YWHAZ	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/YWHAZ	7534	ENSG00000164924	12855	https://pubmed.ncbi.nlm.nih.gov/?term=YWHAZ	None	None	8877	10792
YY1	YY1 transcription factor	Pancreatic insulin-producing neuroendocrine tumor?0003010;Gabriele de Vries syndrome?0017947	https://raresource.nih.gov/literature/gene/YY1	7528	ENSG00000100811	12856	https://pubmed.ncbi.nlm.nih.gov/?term=YY1	None	None	18653	6178
YY1AP1	YY1 associated protein 1	Grange syndrome?0016697	https://raresource.nih.gov/literature/gene/YY1AP1	55249	ENSG00000163374	30935	https://pubmed.ncbi.nlm.nih.gov/?term=YY1AP1	None	None	12339	36
ZAP70	zeta chain of T cell receptor associated protein kinase 70	Combined immunodeficiency due to ZAP70 deficiency?0000387	https://raresource.nih.gov/literature/gene/ZAP70	7535	ENSG00000115085	12858	https://pubmed.ncbi.nlm.nih.gov/?term=ZAP70	None	None	11841	2694
ZBTB11	zinc finger and BTB domain containing 11	Intellectual developmental disorder, autosomal recessive 69?0025727	https://raresource.nih.gov/literature/gene/ZBTB11	27107	ENSG00000066422	16740	https://pubmed.ncbi.nlm.nih.gov/?term=ZBTB11	None	None	11954	26
ZBTB18	zinc finger and BTB domain containing 18	Intellectual disability, autosomal dominant 22?0024892	https://raresource.nih.gov/literature/gene/ZBTB18	10472	ENSG00000179456	13030	https://pubmed.ncbi.nlm.nih.gov/?term=ZBTB18	None	None	5866	189
ZBTB20	zinc finger and BTB domain containing 20	Primrose syndrome?0004488	https://raresource.nih.gov/literature/gene/ZBTB20	26137	ENSG00000181722	13503	https://pubmed.ncbi.nlm.nih.gov/?term=ZBTB20	None	None	294742	226
ZBTB24	zinc finger and BTB domain containing 24	Immunodeficiency-centromeric instability-facial anomalies syndrome 2?0015751;Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency?0002945	https://raresource.nih.gov/literature/gene/ZBTB24	9841	ENSG00000112365	21143	https://pubmed.ncbi.nlm.nih.gov/?term=ZBTB24	None	None	7815	70
ZBTB42	zinc finger and BTB domain containing 42	Lethal congenital contracture syndrome 6?0025001	https://raresource.nih.gov/literature/gene/ZBTB42	100128927	ENSG00000179627	32550	https://pubmed.ncbi.nlm.nih.gov/?term=ZBTB42	None	None	2702	5
ZC3H14	zinc finger CCCH-type containing 14	Autosomal recessive non-syndromic intellectual disability?0018643;Intellectual disability, autosomal recessive 56?0022574	https://raresource.nih.gov/literature/gene/ZC3H14	79882	ENSG00000100722	20509	https://pubmed.ncbi.nlm.nih.gov/?term=ZC3H14	None	None	14728	72
ZC4H2	zinc finger C4H2-type containing	Wieacker-Wolff syndrome?0007890;Wieacker-Wolff syndrome, female-restricted?0025489	https://raresource.nih.gov/literature/gene/ZC4H2	55906	ENSG00000126970	24931	https://pubmed.ncbi.nlm.nih.gov/?term=ZC4H2	None	None	25090	121
ZCCHC8	zinc finger CCHC-type containing 8	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5?0025762	https://raresource.nih.gov/literature/gene/ZCCHC8	55596	ENSG00000033030	25265	https://pubmed.ncbi.nlm.nih.gov/?term=ZCCHC8	None	None	4372	37
ZDHHC9	zDHHC palmitoyltransferase 9	Syndromic X-linked intellectual disability Raymond type?0015264	https://raresource.nih.gov/literature/gene/ZDHHC9	51114	ENSG00000188706	18475	https://pubmed.ncbi.nlm.nih.gov/?term=ZDHHC9	None	None	7543	84
ZEB1	zinc finger E-box binding homeobox 1	Fuchs' endothelial dystrophy?0010018;Posterior polymorphous corneal dystrophy?0016882;Corneal dystrophy, Fuchs endothelial, 6?0018221;Posterior polymorphous corneal dystrophy 3?0018214	https://raresource.nih.gov/literature/gene/ZEB1	6935	ENSG00000148516	11642	https://pubmed.ncbi.nlm.nih.gov/?term=ZEB1	None	None	81317	3913
ZEB2	zinc finger E-box binding homeobox 2	Mowat-Wilson syndrome?0009673;Mowat-Wilson syndrome due to a ZEB2 point mutation?0017249	https://raresource.nih.gov/literature/gene/ZEB2	9839	ENSG00000169554	14881	https://pubmed.ncbi.nlm.nih.gov/?term=ZEB2	None	None	60722	1890
ZFHX2	zinc finger homeobox 2	Congenital insensitivity to pain syndrome, Marsili type?0026933	https://raresource.nih.gov/literature/gene/ZFHX2	85446	ENSG00000136367	20152	https://pubmed.ncbi.nlm.nih.gov/?term=ZFHX2	None	None	10001	29
ZFHX3	zinc finger homeobox 3	Spinocerebellar ataxia type 4?0009970;Familial prostate cancer?0027144;Atrial fibrillation, familial, 8?0015609	https://raresource.nih.gov/literature/gene/ZFHX3	463	ENSG00000140836	777	https://pubmed.ncbi.nlm.nih.gov/?term=ZFHX3	None	None	315868	296
ZFP57	ZFP57 zinc finger protein	Diabetes mellitus, transient neonatal, 1?0001839	https://raresource.nih.gov/literature/gene/ZFP57	346171	ENSG00000204644	18791	https://pubmed.ncbi.nlm.nih.gov/?term=ZFP57	None	None	5074	159
ZFPM2	zinc finger protein, FOG family member 2	46,XY sex reversal 9?0018361;Tetralogy of Fallot?0002245;46,XY partial gonadal dysgenesis?0017211;Diaphragmatic hernia 3?0015474	https://raresource.nih.gov/literature/gene/ZFPM2	23414	ENSG00000169946	16700	https://pubmed.ncbi.nlm.nih.gov/?term=ZFPM2	None	None	440764	319
ZFR	zinc finger RNA binding protein	Autosomal recessive spastic paraplegia type 71?0021701	https://raresource.nih.gov/literature/gene/ZFR	51663	ENSG00000056097	17277	https://pubmed.ncbi.nlm.nih.gov/?term=ZFR	None	None	37391	78
ZFYVE19	zinc finger FYVE-type containing 19	Cholestasis, progressive familial intrahepatic, 9?0025639	https://raresource.nih.gov/literature/gene/ZFYVE19	84936	ENSG00000166140	20758	https://pubmed.ncbi.nlm.nih.gov/?term=ZFYVE19	None	None	2548	20
ZFYVE26	zinc finger FYVE-type containing 26	Hereditary spastic paraplegia 15?0009581	https://raresource.nih.gov/literature/gene/ZFYVE26	23503	ENSG00000072121	20761	https://pubmed.ncbi.nlm.nih.gov/?term=ZFYVE26	None	None	19239	100
ZFYVE27	zinc finger FYVE-type containing 27	Hereditary spastic paraplegia 33?0024867	https://raresource.nih.gov/literature/gene/ZFYVE27	118813	ENSG00000155256	26559	https://pubmed.ncbi.nlm.nih.gov/?term=ZFYVE27	None	None	10351	52
ZIC1	Zic family member 1	Craniosynostosis 6?0018048	https://raresource.nih.gov/literature/gene/ZIC1	7545	ENSG00000152977	12872	https://pubmed.ncbi.nlm.nih.gov/?term=ZIC1	None	None	40566	394
ZIC2	Zic family member 2	Microform holoprosencephaly?0017290;Lobar holoprosencephaly?0016830;Alobar holoprosencephaly?0016831;Holoprosencephaly 5?0024860	https://raresource.nih.gov/literature/gene/ZIC2	7546	ENSG00000043355	12873	https://pubmed.ncbi.nlm.nih.gov/?term=ZIC2	None	None	3231	351
ZIC3	Zic family member 3	VACTERL association, X-linked, with or without hydrocephalus?0015309;Heterotaxy, visceral, 1, X-linked?0008591;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/ZIC3	7547	ENSG00000156925	12874	https://pubmed.ncbi.nlm.nih.gov/?term=ZIC3	None	None	3303	212
ZMIZ1	zinc finger MIZ-type containing 1	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies?0018521	https://raresource.nih.gov/literature/gene/ZMIZ1	57178	ENSG00000108175	16493	https://pubmed.ncbi.nlm.nih.gov/?term=ZMIZ1	None	None	95369	158
ZMPSTE24	zinc metallopeptidase STE24	Mandibuloacral dysplasia with type B lipodystrophy?0009989;Lethal tight skin contracture syndrome?0001516;Restrictive dermopathy 1?0026425	https://raresource.nih.gov/literature/gene/ZMPSTE24	10269	ENSG00000084073	12877	https://pubmed.ncbi.nlm.nih.gov/?term=ZMPSTE24	None	None	16551	396
ZMYM3	zinc finger MYM-type containing 3	Intellectual developmental disorder, X-linked 112?0026854	https://raresource.nih.gov/literature/gene/ZMYM3	9203	ENSG00000147130	13054	https://pubmed.ncbi.nlm.nih.gov/?term=ZMYM3	None	None	4065	48
ZMYND10	zinc finger MYND-type containing 10	Primary ciliary dyskinesia 22?0015968;Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/ZMYND10	51364	ENSG00000004838	19412	https://pubmed.ncbi.nlm.nih.gov/?term=ZMYND10	None	None	2862	249
ZMYND11	zinc finger MYND-type containing 11	Intellectual disability, autosomal dominant 30?0013136	https://raresource.nih.gov/literature/gene/ZMYND11	10771	ENSG00000015171	16966	https://pubmed.ncbi.nlm.nih.gov/?term=ZMYND11	None	None	49325	124
ZMYND15	zinc finger MYND-type containing 15	Spermatogenic failure 14?0016020	https://raresource.nih.gov/literature/gene/ZMYND15	84225	ENSG00000141497	20997	https://pubmed.ncbi.nlm.nih.gov/?term=ZMYND15	None	None	2844	17
ZNF141	zinc finger protein 141	Postaxial polydactyly type A?0016817;Polydactyly, postaxial, type A6?0018176	https://raresource.nih.gov/literature/gene/ZNF141	7700	ENSG00000131127	12926	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF141	None	None	23141	26
ZNF292	zinc finger protein 292	Intellectual developmental disorder, autosomal dominant 64?0016478	https://raresource.nih.gov/literature/gene/ZNF292	23036	ENSG00000188994	18410	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF292	None	None	46306	44
ZNF335	zinc finger protein 335	Microcephalic primordial dwarfism due to ZNF335 deficiency?0017498	https://raresource.nih.gov/literature/gene/ZNF335	63925	ENSG00000198026	15807	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF335	None	None	8191	59
ZNF341	zinc finger protein 341	Hyper-IgE recurrent infection syndrome 3, autosomal recessive?0025713	https://raresource.nih.gov/literature/gene/ZNF341	84905	ENSG00000131061	15992	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF341	None	None	17987	18
ZNF408	zinc finger protein 408	Retinitis pigmentosa 72?0016119;Familial exudative vitreoretinopathy?0001613;Exudative vitreoretinopathy 6?0016118	https://raresource.nih.gov/literature/gene/ZNF408	79797	ENSG00000175213	20041	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF408	None	None	3385	28
ZNF423	zinc finger protein 423	Nephronophthisis 14?0024962;Joubert syndrome with oculorenal defect?0009455	https://raresource.nih.gov/literature/gene/ZNF423	23090	ENSG00000102935	16762	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF423	None	None	90468	204
ZNF469	zinc finger protein 469	Brittle cornea syndrome?0001019;Brittle cornea syndrome 1?0025424	https://raresource.nih.gov/literature/gene/ZNF469	84627	ENSG00000225614	23216	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF469	None	None	26147	159
ZNF513	zinc finger protein 513	Retinitis pigmentosa 58?0015682	https://raresource.nih.gov/literature/gene/ZNF513	130557	ENSG00000163795	26498	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF513	None	None	2165	37
ZNF711	zinc finger protein 711	Non-syndromic X-linked intellectual disability?0018640;Intellectual disability, X-linked 97?0022686	https://raresource.nih.gov/literature/gene/ZNF711	7552	ENSG00000147180	13128	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF711	None	None	5671	46
ZNF750	zinc finger protein 750	Seborrhea-like dermatitis with psoriasiform elements?0017039	https://raresource.nih.gov/literature/gene/ZNF750	79755	ENSG00000141579	25843	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF750	None	None	1096	88
ZNF808	zinc finger protein 808	Pancreatic agenesis 3?0027329	https://raresource.nih.gov/literature/gene/ZNF808	388558	ENSG00000198482	33230	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF808	None	None	14431	5
ZNF81	zinc finger protein 81	Non-syndromic X-linked intellectual disability?0018640	https://raresource.nih.gov/literature/gene/ZNF81	347344	ENSG00000197779	13156	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF81	None	None	18029	17
ZNF862	zinc finger protein 862	Fibromatosis, gingival, 6?0027331	https://raresource.nih.gov/literature/gene/ZNF862	643641	ENSG00000106479	34519	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF862	None	None	7902	5
ZNHIT3	zinc finger HIT-type containing 3	PEHO syndrome?0004264	https://raresource.nih.gov/literature/gene/ZNHIT3	9326	ENSG00000273611	12309	https://pubmed.ncbi.nlm.nih.gov/?term=ZNHIT3	None	None	4027	43
ZNRF3	zinc and ring finger 3	Adrenal cortex carcinoma?0000558	https://raresource.nih.gov/literature/gene/ZNRF3	84133	ENSG00000183579	18126	https://pubmed.ncbi.nlm.nih.gov/?term=ZNRF3	None	None	42386	217
ZP1	zona pellucida glycoprotein 1	Female infertility due to zona pellucida defect?0017675	https://raresource.nih.gov/literature/gene/ZP1	22917	ENSG00000149506	13187	https://pubmed.ncbi.nlm.nih.gov/?term=ZP1	None	None	4857	306
ZPBP	zona pellucida binding protein	Male infertility due to globozoospermia?0012502	https://raresource.nih.gov/literature/gene/ZPBP	11055	ENSG00000042813	15662	https://pubmed.ncbi.nlm.nih.gov/?term=ZPBP	None	None	26148	48
ZRSR2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	Orofaciodigital syndrome 21?0027324	https://raresource.nih.gov/literature/gene/ZRSR2	8233	ENSG00000169249	23019	https://pubmed.ncbi.nlm.nih.gov/?term=ZRSR2	None	None	6774	235
ZSWIM6	zinc finger SWIM-type containing 6	Acromelic frontonasal dysostosis?0005539	https://raresource.nih.gov/literature/gene/ZSWIM6	57688	ENSG00000130449	29316	https://pubmed.ncbi.nlm.nih.gov/?term=ZSWIM6	None	None	79201	22
ZSWIM7	zinc finger SWIM-type containing 7	46 XX gonadal dysgenesis?0005671;Ovarian dysgenesis 10?0025628	https://raresource.nih.gov/literature/gene/ZSWIM7	125150	ENSG00000214941	26993	https://pubmed.ncbi.nlm.nih.gov/?term=ZSWIM7	None	None	8815	208