Browse Genes Associated with Rare Diseases

The table below displays a list of all genes contained within RARe-SOURCE™, which are associated with rare diseases. The table lists rare diseases linked to the gene, links to related features within RARe-SOURCE™ and links to external data sources. Clicking on the gene name, displays its genomic location, disease associations obtained from other data sources, and most recent publications on the gene from PubMed. Clicking on the associated rare disease lands on the ‘Rare Disease Information’ page with specific details on the disease.

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
AAAS	aladin WD repeat nucleoporin	Triple A syndrome?0000457	https://raresource.nih.gov/literature/gene/AAAS	8086	ENSG00000094914	13666	https://pubmed.ncbi.nlm.nih.gov/?term=AAAS	None	None	5970	663
AAGAB	alpha and gamma adaptin binding protein	Punctate palmoplantar keratoderma type 1?0003103	https://raresource.nih.gov/literature/gene/AAGAB	79719	ENSG00000103591	25662	https://pubmed.ncbi.nlm.nih.gov/?term=AAGAB	None	None	12967	687
AARS2	alanyl-tRNA synthetase 2, mitochondrial	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia?0010981	https://raresource.nih.gov/literature/gene/AARS2	57505	ENSG00000124608	21022	https://pubmed.ncbi.nlm.nih.gov/?term=AARS2	None	None	5918	66
AASS	aminoadipate-semialdehyde synthase	Saccharopinuria?0000314;Hyperlysinemia?0002828	https://raresource.nih.gov/literature/gene/AASS	10157	ENSG00000008311	17366	https://pubmed.ncbi.nlm.nih.gov/?term=AASS	None	None	25943	69
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	1364
ABCA1	ATP binding cassette subfamily A member 1	Apolipoprotein A-I deficiency?0002872;Tangier disease?0007731	https://raresource.nih.gov/literature/gene/ABCA1	19	ENSG00000165029	29	https://pubmed.ncbi.nlm.nih.gov/?term=ABCA1	None	None	55930	376
ABCA12	ATP binding cassette subfamily A member 12	Congenital non-bullous ichthyosiform erythroderma?0009736;Ichthyosis, congenital, autosomal recessive 4a?0009733;Lamellar ichthyosis?0010803;Harlequin ichthyosis?0006568	https://raresource.nih.gov/literature/gene/ABCA12	26154	ENSG00000144452	14637	https://pubmed.ncbi.nlm.nih.gov/?term=ABCA12	None	None	76826	226
ABCA3	ATP binding cassette subfamily A member 3	Idiopathic pulmonary fibrosis?0008609	https://raresource.nih.gov/literature/gene/ABCA3	21	ENSG00000167972	33	https://pubmed.ncbi.nlm.nih.gov/?term=ABCA3	None	None	22316	421
ABCA4	ATP binding cassette subfamily A member 4	Retinitis pigmentosa?0005694;Stargardt disease?0000181;Cone-rod dystrophy 3?0010653;Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/ABCA4	24	ENSG00000198691	34	https://pubmed.ncbi.nlm.nih.gov/?term=ABCA4	None	None	48677	1818
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	55
ABCA7	ATP binding cassette subfamily A member 7	Early-onset autosomal dominant Alzheimer disease?0012798	https://raresource.nih.gov/literature/gene/ABCA7	10347	ENSG00000064687	37	https://pubmed.ncbi.nlm.nih.gov/?term=ABCA7	None	None	16534	354
ABCB11	ATP binding cassette subfamily B member 11	Intrahepatic cholestasis of pregnancy?0009804;Benign recurrent intrahepatic cholestasis type 2?0010029;Progressive familial intrahepatic cholestasis type 2?0001288	https://raresource.nih.gov/literature/gene/ABCB11	8647	ENSG00000073734	42	https://pubmed.ncbi.nlm.nih.gov/?term=ABCB11	None	None	43178	1560
ABCB4	ATP binding cassette subfamily B member 4	Progressive familial intrahepatic cholestasis type 3?0001289;Intrahepatic cholestasis of pregnancy?0009804	https://raresource.nih.gov/literature/gene/ABCB4	5244	ENSG00000005471	45	https://pubmed.ncbi.nlm.nih.gov/?term=ABCB4	None	None	26199	1234
ABCB6	ATP binding cassette subfamily B member 6 (Langereis blood group)	Coloboma of macula?0001436;Colobomatous microphthalmia?0003644;Coloboma of optic disc?0001438;Coloboma of iris?0001434;Dyschromatosis universalis hereditaria?0001996;Coloboma of eye lens?0001433	https://raresource.nih.gov/literature/gene/ABCB6	10058	ENSG00000115657	47	https://pubmed.ncbi.nlm.nih.gov/?term=ABCB6	None	None	4560	6959
ABCB7	ATP binding cassette subfamily B member 7	X-linked sideroblastic anemia and spinocerebellar ataxia?0000668	https://raresource.nih.gov/literature/gene/ABCB7	22	ENSG00000131269	48	https://pubmed.ncbi.nlm.nih.gov/?term=ABCB7	None	None	17783	851
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	3725
ABCC6	ATP binding cassette subfamily C member 6	Pseudoxanthoma elasticum, forme fruste?0010104;Generalized arterial calcification of infancy?0008380;Pseudoxanthoma elasticum?0009643	https://raresource.nih.gov/literature/gene/ABCC6	368	ENSG00000091262	57	https://pubmed.ncbi.nlm.nih.gov/?term=ABCC6	None	None	22620	1085
ABCC8	ATP binding cassette subfamily C member 8	MODY?0003697;Transient neonatal diabetes mellitus?0001839;Isolated permanent neonatal diabetes mellitus?0010457	https://raresource.nih.gov/literature/gene/ABCC8	6833	ENSG00000006071	59	https://pubmed.ncbi.nlm.nih.gov/?term=ABCC8	None	None	33733	3106
ABCC9	ATP binding cassette subfamily C member 9	Familial isolated dilated cardiomyopathy?0002905;Cantú syndrome?0008585;Familial atrial fibrillation?0009740;Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/ABCC9	10060	ENSG00000069431	60	https://pubmed.ncbi.nlm.nih.gov/?term=ABCC9	None	None	36700	416
ABCD1	ATP binding cassette subfamily D member 1	CADDS?0012472;Hirschsprung disease?0006660;X-linked cerebral adrenoleukodystrophy?0009412;Adrenomyeloneuropathy?0010614	https://raresource.nih.gov/literature/gene/ABCD1	215	ENSG00000101986	61	https://pubmed.ncbi.nlm.nih.gov/?term=ABCD1	None	None	5065	1145
ABCG5	ATP binding cassette subfamily G member 5	Homozygous familial hypercholesterolemia?0010416;Sitosterolemia?0007653	https://raresource.nih.gov/literature/gene/ABCG5	64240	ENSG00000138075	13886	https://pubmed.ncbi.nlm.nih.gov/?term=ABCG5	None	None	12616	877
ABCG8	ATP binding cassette subfamily G member 8	Homozygous familial hypercholesterolemia?0010416;Sitosterolemia?0007653	https://raresource.nih.gov/literature/gene/ABCG8	64241	ENSG00000143921	13887	https://pubmed.ncbi.nlm.nih.gov/?term=ABCG8	None	None	23901	685
ABHD5	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	Neutral lipid 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	174
ABL1	ABL proto-oncogene 1, non-receptor tyrosine kinase	Chronic myeloid leukemia?0006105	https://raresource.nih.gov/literature/gene/ABL1	25	ENSG00000097007	76	https://pubmed.ncbi.nlm.nih.gov/?term=ABL1	None	None	65798	14760
ACAD8	acyl-CoA dehydrogenase family member 8	Isobutyryl-CoA dehydrogenase deficiency?0010223	https://raresource.nih.gov/literature/gene/ACAD8	27034	ENSG00000151498	87	https://pubmed.ncbi.nlm.nih.gov/?term=ACAD8	None	None	3951	35
ACADM	acyl-CoA dehydrogenase medium chain	Medium chain acyl-CoA dehydrogenase deficiency?0000540	https://raresource.nih.gov/literature/gene/ACADM	34	ENSG00000117054	89	https://pubmed.ncbi.nlm.nih.gov/?term=ACADM	None	None	18445	1240
ACADS	acyl-CoA dehydrogenase short chain	Short chain acyl-CoA dehydrogenase deficiency?0004822	https://raresource.nih.gov/literature/gene/ACADS	35	ENSG00000122971	90	https://pubmed.ncbi.nlm.nih.gov/?term=ACADS	None	None	5832	360
ACADSB	acyl-CoA dehydrogenase short/branched chain	2-methylbutyryl-CoA dehydrogenase deficiency?0010322	https://raresource.nih.gov/literature/gene/ACADSB	36	ENSG00000196177	91	https://pubmed.ncbi.nlm.nih.gov/?term=ACADSB	None	None	18686	80
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	412
ACAN	aggrecan	Spondyloepimetaphyseal dysplasia, aggrecan type?0010513;Familial osteochondritis dissecans?0004133	https://raresource.nih.gov/literature/gene/ACAN	176	ENSG00000157766	319	https://pubmed.ncbi.nlm.nih.gov/?term=ACAN	None	None	22261	5873
ACAT1	acetyl-CoA acetyltransferase 1	Beta-ketothiolase deficiency?0000872	https://raresource.nih.gov/literature/gene/ACAT1	38	ENSG00000075239	93	https://pubmed.ncbi.nlm.nih.gov/?term=ACAT1	None	None	8895	2941
ACD	ACD shelterin complex subunit and telomerase recruitment factor	Familial melanoma?0003460;Hoyeraal-Hreidarsson syndrome?0000346	https://raresource.nih.gov/literature/gene/ACD	65057	ENSG00000102977	25070	https://pubmed.ncbi.nlm.nih.gov/?term=ACD	None	None	1765	749
ACO2	aconitase 2	Infantile cerebellar-retinal degeneration?0013264	https://raresource.nih.gov/literature/gene/ACO2	50	ENSG00000100412	118	https://pubmed.ncbi.nlm.nih.gov/?term=ACO2	None	None	15841	543
ACOX1	acyl-CoA oxidase 1	Peroxisomal 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	1913
ACP4	acid phosphatase 4	Hypoplastic amelogenesis imperfecta?0000645	https://raresource.nih.gov/literature/gene/ACP4	93650	ENSG00000142513	14376	https://pubmed.ncbi.nlm.nih.gov/?term=ACP4	None	None	2523	42
ACP5	acid phosphatase 5, tartrate resistant	Spondyloenchondrodysplasia?0004978	https://raresource.nih.gov/literature/gene/ACP5	54	ENSG00000102575	124	https://pubmed.ncbi.nlm.nih.gov/?term=ACP5	None	None	2999	6001
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	74
ACSL4	acyl-CoA synthetase long chain family member 4	Intellectual developmental disorder, x-linked 63?0005613	https://raresource.nih.gov/literature/gene/ACSL4	2182	ENSG00000068366	3571	https://pubmed.ncbi.nlm.nih.gov/?term=ACSL4	None	None	17631	1057
ACTA1	actin alpha 1, skeletal muscle	Severe congenital nemaline myopathy?0012821;Typical nemaline myopathy?0012822;Congenital fiber-type disproportion myopathy?0006161;Childhood-onset nemaline myopathy?0007171;Intermediate nemaline myopathy?0012823;Rigid spine syndrome?0004723	https://raresource.nih.gov/literature/gene/ACTA1	58	ENSG00000143632	129	https://pubmed.ncbi.nlm.nih.gov/?term=ACTA1	None	None	3291	1286
ACTA2	actin alpha 2, smooth muscle	Moyamoya disease?0007064;Familial thoracic aortic aneurysm and aortic dissection?0002249;Multisystemic smooth muscle dysfunction syndrome?0012811	https://raresource.nih.gov/literature/gene/ACTA2	59	ENSG00000107796	130	https://pubmed.ncbi.nlm.nih.gov/?term=ACTA2	None	None	665	1154
ACTB	actin beta	Developmental malformations-deafness-dystonia syndrome?0009818;Baraitser-Winter cerebrofrontofacial syndrome?0005279;Becker nevus syndrome?0003856	https://raresource.nih.gov/literature/gene/ACTB	60	ENSG00000075624	132	https://pubmed.ncbi.nlm.nih.gov/?term=ACTB	None	None	6856	1496
ACTC1	actin alpha cardiac muscle 1	Familial isolated dilated cardiomyopathy?0002905;Left ventricular noncompaction?0010985;Atrial septal defect, ostium secundum type?0005865	https://raresource.nih.gov/literature/gene/ACTC1	70	ENSG00000159251	143	https://pubmed.ncbi.nlm.nih.gov/?term=ACTC1	None	None	2769	264
ACTG1	actin gamma 1	Coloboma of iris?0001434;Baraitser-Winter cerebrofrontofacial syndrome?0005279	https://raresource.nih.gov/literature/gene/ACTG1	71	ENSG00000184009	144	https://pubmed.ncbi.nlm.nih.gov/?term=ACTG1	None	None	3907	2223
ACTG2	actin gamma 2, smooth muscle	Megacystis-microcolon-intestinal hypoperistalsis syndrome?0003442;Familial visceral myopathy?0003443	https://raresource.nih.gov/literature/gene/ACTG2	72	ENSG00000163017	145	https://pubmed.ncbi.nlm.nih.gov/?term=ACTG2	None	None	14217	2254
ACTN2	actinin alpha 2	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/ACTN2	88	ENSG00000077522	164	https://pubmed.ncbi.nlm.nih.gov/?term=ACTN2	None	None	35873	245
ACTN4	actinin alpha 4	Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/ACTN4	81	ENSG00000130402	166	https://pubmed.ncbi.nlm.nih.gov/?term=ACTN4	None	None	23011	37732
ACVR1	activin A receptor type 1	Fibrodysplasia ossificans progressiva?0006445	https://raresource.nih.gov/literature/gene/ACVR1	90	ENSG00000115170	171	https://pubmed.ncbi.nlm.nih.gov/?term=ACVR1	None	None	51172	884
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	1438
ACY1	aminoacylase 1	Neurological conditions associated with 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	78
ADA	adenosine deaminase	Severe combined immunodeficiency due to adenosine deaminase deficiency?0005748;Omenn syndrome?0008198	https://raresource.nih.gov/literature/gene/ADA	100	ENSG00000196839	186	https://pubmed.ncbi.nlm.nih.gov/?term=ADA	None	None	8789	8532
ADA2	adenosine deaminase 2	Sneddon syndrome?0007664;Vasculitis due to ADA2 deficiency?0012383;Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/ADA2	51816	ENSG00000093072	1839	https://pubmed.ncbi.nlm.nih.gov/?term=ADA2	None	None	15493	1421
ADAM9	ADAM metallopeptidase domain 9	Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/ADAM9	8754	ENSG00000168615	216	https://pubmed.ncbi.nlm.nih.gov/?term=ADAM9	None	None	41123	2444
ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	Weill-Marchesani syndrome?0004936	https://raresource.nih.gov/literature/gene/ADAMTS10	81794	ENSG00000142303	13201	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTS10	None	None	10848	127
ADAMTS13	ADAM metallopeptidase with thrombospondin type 1 motif 13	Congenital thrombotic thrombocytopenic purpura?0009430	https://raresource.nih.gov/literature/gene/ADAMTS13	11093	ENSG00000160323	1366	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTS13	None	None	16681	3123
ADAMTS2	ADAM metallopeptidase with thrombospondin type 1 motif 2	Dermatosparaxis Ehlers-Danlos syndrome?0002089	https://raresource.nih.gov/literature/gene/ADAMTS2	9509	ENSG00000087116	218	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTS2	None	None	98060	190
ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	Hennekam syndrome?0003318	https://raresource.nih.gov/literature/gene/ADAMTS3	9508	ENSG00000156140	219	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTS3	None	None	108921	602
ADAMTSL2	ADAMTS like 2	Dermatosparaxis Ehlers-Danlos syndrome?0002089;Geleophysic dysplasia?0002449	https://raresource.nih.gov/literature/gene/ADAMTSL2	9719	ENSG00000197859	14631	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTSL2	None	None	21797	74
ADAMTSL4	ADAMTS like 4	Ectopia lentis 2, isolated, autosomal recessive?0002060;Isolated ectopia lentis?0012251	https://raresource.nih.gov/literature/gene/ADAMTSL4	54507	ENSG00000143382	19706	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTSL4	None	None	6270	72
ADAR	adenosine deaminase RNA specific	Aicardi-Goutières syndrome?0000575;Dyschromatosis symmetrica hereditaria?0000334	https://raresource.nih.gov/literature/gene/ADAR	103	ENSG00000160710	225	https://pubmed.ncbi.nlm.nih.gov/?term=ADAR	None	None	20702	1744
ADCY5	adenylate cyclase 5	Familial dyskinesia and facial myokymia?0012722;Benign hereditary chorea?0001305	https://raresource.nih.gov/literature/gene/ADCY5	111	ENSG00000173175	236	https://pubmed.ncbi.nlm.nih.gov/?term=ADCY5	None	None	68188	406
ADGRE2	adhesion G protein-coupled receptor E2	Vibratory urticaria?0009806	https://raresource.nih.gov/literature/gene/ADGRE2	30817	ENSG00000127507	3337	https://pubmed.ncbi.nlm.nih.gov/?term=ADGRE2	None	None	17858	270
ADGRG1	adhesion G protein-coupled receptor G1	Bilateral frontoparietal polymicrogyria?0010784;Bilateral perisylvian polymicrogyria?0006011	https://raresource.nih.gov/literature/gene/ADGRG1	9289	ENSG00000205336	4512	https://pubmed.ncbi.nlm.nih.gov/?term=ADGRG1	None	None	14115	281
ADGRG2	adhesion G protein-coupled receptor G2	Congenital bilateral absence of vas deferens?0005461	https://raresource.nih.gov/literature/gene/ADGRG2	10149	ENSG00000173698	4516	https://pubmed.ncbi.nlm.nih.gov/?term=ADGRG2	None	None	22992	81
ADGRV1	adhesion G protein-coupled receptor V1	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	189
ADNP	activity dependent neuroprotector homeobox	ADNP syndrome?0012931	https://raresource.nih.gov/literature/gene/ADNP	23394	ENSG00000101126	15766	https://pubmed.ncbi.nlm.nih.gov/?term=ADNP	None	None	16613	283
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	764
AFF2	AF4/FMR2 family member 2	FRAXE intellectual disability?0002378	https://raresource.nih.gov/literature/gene/AFF2	2334	ENSG00000155966	3776	https://pubmed.ncbi.nlm.nih.gov/?term=AFF2	None	None	81789	326
AFF4	AF4/FMR2 family member 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	114
AFG3L2	AFG3 like matrix AAA peptidase subunit 2	Spinocerebellar ataxia type 28?0009951	https://raresource.nih.gov/literature/gene/AFG3L2	10939	ENSG00000141385	315	https://pubmed.ncbi.nlm.nih.gov/?term=AFG3L2	None	None	16420	120
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	1758
AGBL1	AGBL carboxypeptidase 1	Fuchs endothelial corneal dystrophy?0010018	https://raresource.nih.gov/literature/gene/AGBL1	123624	ENSG00000273540	26504	https://pubmed.ncbi.nlm.nih.gov/?term=AGBL1	None	None	364275	36
AGBL5	AGBL carboxypeptidase 5	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/AGBL5	60509	ENSG00000084693	26147	https://pubmed.ncbi.nlm.nih.gov/?term=AGBL5	None	None	9553	33
AGK	acylglycerol kinase	Total early-onset cataract?0001159;Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome?0001142	https://raresource.nih.gov/literature/gene/AGK	55750	ENSG00000006530	21869	https://pubmed.ncbi.nlm.nih.gov/?term=AGK	None	None	34466	118
AGL	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	Glycogen storage disease due to glycogen debranching enzyme deficiency?0009442	https://raresource.nih.gov/literature/gene/AGL	178	ENSG00000162688	321	https://pubmed.ncbi.nlm.nih.gov/?term=AGL	None	None	32943	390
AGPAT2	1-acylglycerol-3-phosphate O-acyltransferase 2	Lipodystrophy, congenital generalized, type 1?0000084;Congenital generalized lipodystrophy?0013388	https://raresource.nih.gov/literature/gene/AGPAT2	10555	ENSG00000169692	325	https://pubmed.ncbi.nlm.nih.gov/?term=AGPAT2	None	None	7719	194
AGSPX	Angioma serptiginosum, X-linked	Angioma serpiginosum, x-linked?0010188	https://raresource.nih.gov/literature/gene/AGSPX	100188767			https://pubmed.ncbi.nlm.nih.gov/?term=AGSPX	None	None	None	None
AGTPBP1	ATP/GTP binding carboxypeptidase 1	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	185
AGXT	alanine--glyoxylate and serine--pyruvate aminotransferase	Primary hyperoxaluria type 1?0002835	https://raresource.nih.gov/literature/gene/AGXT	189	ENSG00000172482	341	https://pubmed.ncbi.nlm.nih.gov/?term=AGXT	None	None	7083	3557
AHCY	adenosylhomocysteinase	S-adenosylhomocysteine hydrolase deficiency?0013177	https://raresource.nih.gov/literature/gene/AHCY	191	ENSG00000101444	343	https://pubmed.ncbi.nlm.nih.gov/?term=AHCY	None	None	9865	909
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	43
AHI1	Abelson helper integration site 1	Joubert syndrome with ocular defect?0010168;Joubert syndrome?0006802;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/AHI1	54806	ENSG00000135541	21575	https://pubmed.ncbi.nlm.nih.gov/?term=AHI1	None	None	79369	378
AHR	aryl hydrocarbon receptor	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/AHR	196	ENSG00000106546	348	https://pubmed.ncbi.nlm.nih.gov/?term=AHR	None	None	105250	9789
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	1806
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	2341
AIFM1	apoptosis inducing factor mitochondria associated 1	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome?0004891	https://raresource.nih.gov/literature/gene/AIFM1	9131	ENSG00000156709	8768	https://pubmed.ncbi.nlm.nih.gov/?term=AIFM1	None	None	7940	2680
AIH3	Amelogenesis imperfecta, hypomaturation or hypoplastic type, X-linked 2	Amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2?0009944	https://raresource.nih.gov/literature/gene/AIH3	201			https://pubmed.ncbi.nlm.nih.gov/?term=AIH3	None	None	None	2
AIMP1	aminoacyl tRNA synthetase complex interacting multifunctional protein 1	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation?0004266	https://raresource.nih.gov/literature/gene/AIMP1	9255	ENSG00000164022	10648	https://pubmed.ncbi.nlm.nih.gov/?term=AIMP1	None	None	12980	537
AIP	aryl hydrocarbon receptor interacting protein	Acromegaly?0005725;Prolactinoma?0004508;Pituitary gigantism?0006506;Familial isolated pituitary adenoma?0010959	https://raresource.nih.gov/literature/gene/AIP	9049	ENSG00000110711	358	https://pubmed.ncbi.nlm.nih.gov/?term=AIP	None	None	4921	725
AIPL1	aryl hydrocarbon receptor interacting protein like 1	Cone rod dystrophy?0010790;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/AIPL1	23746	ENSG00000129221	359	https://pubmed.ncbi.nlm.nih.gov/?term=AIPL1	None	None	5724	149
AIRE	autoimmune regulator	Autoimmune polyendocrinopathy type 1?0008466	https://raresource.nih.gov/literature/gene/AIRE	326	ENSG00000160224	360	https://pubmed.ncbi.nlm.nih.gov/?term=AIRE	None	None	5746	1351
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	251
AKAP9	A-kinase anchoring protein 9	Romano-Ward syndrome?0003284;Brugada syndrome?0001030;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	224
AKR1D1	aldo-keto reductase family 1 member D1	Congenital bile acid synthesis defect type 2?0010045	https://raresource.nih.gov/literature/gene/AKR1D1	6718	ENSG00000122787	388	https://pubmed.ncbi.nlm.nih.gov/?term=AKR1D1	None	None	41853	123
AKT1	AKT serine/threonine kinase 1	Proteus syndrome?0007475;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	117234
AKT3	AKT serine/threonine kinase 3	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?0010341;Hemimegalencephaly?0002637	https://raresource.nih.gov/literature/gene/AKT3	10000	ENSG00000117020	393	https://pubmed.ncbi.nlm.nih.gov/?term=AKT3	None	None	152045	1002
ALAS2	5'-aminolevulinate synthase 2	X-linked sideroblastic anemia?0009456	https://raresource.nih.gov/literature/gene/ALAS2	212	ENSG00000158578	397	https://pubmed.ncbi.nlm.nih.gov/?term=ALAS2	None	None	3985	500
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	122492
ALDH18A1	aldehyde dehydrogenase 18 family member A1	Autosomal dominant spastic paraplegia type 9A?0009583;Autosomal dominant cutis laxa?0001639	https://raresource.nih.gov/literature/gene/ALDH18A1	5832	ENSG00000059573	9722	https://pubmed.ncbi.nlm.nih.gov/?term=ALDH18A1	None	None	20042	429
ALDH1A3	aldehyde dehydrogenase 1 family member A3	Colobomatous microphthalmia?0003644	https://raresource.nih.gov/literature/gene/ALDH1A3	220	ENSG00000184254	409	https://pubmed.ncbi.nlm.nih.gov/?term=ALDH1A3	None	None	9695	484
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	388
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	156
ALDH5A1	aldehyde dehydrogenase 5 family member A1	Succinic 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	340
ALDH7A1	aldehyde dehydrogenase 7 family member A1	Pyridoxine-dependent epilepsy?0009298	https://raresource.nih.gov/literature/gene/ALDH7A1	501	ENSG00000164904	877	https://pubmed.ncbi.nlm.nih.gov/?term=ALDH7A1	None	None	27205	3702
ALDOA	aldolase, fructose-bisphosphate A	Glycogen storage disease 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	446
ALDOB	aldolase, fructose-bisphosphate B	Hereditary fructose intolerance?0006622	https://raresource.nih.gov/literature/gene/ALDOB	229	ENSG00000136872	417	https://pubmed.ncbi.nlm.nih.gov/?term=ALDOB	None	None	12619	215
ALG1	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase	ALG1-CDG?0009838	https://raresource.nih.gov/literature/gene/ALG1	56052	ENSG00000033011	18294	https://pubmed.ncbi.nlm.nih.gov/?term=ALG1	None	None	9831	776
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	38
ALG11	ALG11 alpha-1,2-mannosyltransferase	ALG11-CDG?0012396	https://raresource.nih.gov/literature/gene/ALG11	440138	ENSG00000253710	32456	https://pubmed.ncbi.nlm.nih.gov/?term=ALG11	None	None	3507	56
ALG12	ALG12 alpha-1,6-mannosyltransferase	ALG12-CDG?0009833	https://raresource.nih.gov/literature/gene/ALG12	79087	ENSG00000182858	19358	https://pubmed.ncbi.nlm.nih.gov/?term=ALG12	None	None	8164	51
ALG13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	ALG13-CDG?0012401	https://raresource.nih.gov/literature/gene/ALG13	79868	ENSG00000101901	30881	https://pubmed.ncbi.nlm.nih.gov/?term=ALG13	None	None	17182	64
ALG2	ALG2 alpha-1,3/1,6-mannosyltransferase	ALG2-CDG?0009836	https://raresource.nih.gov/literature/gene/ALG2	85365	ENSG00000119523	23159	https://pubmed.ncbi.nlm.nih.gov/?term=ALG2	None	None	3276	77
ALG3	ALG3 alpha-1,3- mannosyltransferase	ALG3-CDG?0009827	https://raresource.nih.gov/literature/gene/ALG3	10195	ENSG00000214160	23056	https://pubmed.ncbi.nlm.nih.gov/?term=ALG3	None	None	2919	641
ALG6	ALG6 alpha-1,3-glucosyltransferase	ALG6-CDG?0009829	https://raresource.nih.gov/literature/gene/ALG6	29929	ENSG00000088035	23157	https://pubmed.ncbi.nlm.nih.gov/?term=ALG6	None	None	28498	71
ALG8	ALG8 alpha-1,3-glucosyltransferase	ALG8-CDG?0009834	https://raresource.nih.gov/literature/gene/ALG8	79053	ENSG00000159063	23161	https://pubmed.ncbi.nlm.nih.gov/?term=ALG8	None	None	12140	88
ALG9	ALG9 alpha-1,2-mannosyltransferase	Autosomal dominant polycystic kidney disease?0010413;ALG9-CDG?0009839	https://raresource.nih.gov/literature/gene/ALG9	79796	ENSG00000086848	15672	https://pubmed.ncbi.nlm.nih.gov/?term=ALG9	None	None	1649	66
ALK	ALK receptor tyrosine kinase	Neuroblastoma?0007185;Inflammatory myofibroblastic tumor?0007146;Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/ALK	238	ENSG00000171094	427	https://pubmed.ncbi.nlm.nih.gov/?term=ALK	None	None	278454	12284
ALMS1	ALMS1 centrosome and basal body associated protein	Alström syndrome?0005787	https://raresource.nih.gov/literature/gene/ALMS1	7840	ENSG00000116127	428	https://pubmed.ncbi.nlm.nih.gov/?term=ALMS1	None	None	94102	317
ALOX12B	arachidonate 12-lipoxygenase, 12R type	Congenital non-bullous ichthyosiform erythroderma?0009736;Lamellar ichthyosis?0010803	https://raresource.nih.gov/literature/gene/ALOX12B	242	ENSG00000179477	430	https://pubmed.ncbi.nlm.nih.gov/?term=ALOX12B	None	None	5648	142
ALOXE3	arachidonate lipoxygenase 3	Congenital non-bullous ichthyosiform erythroderma?0009736;Lamellar ichthyosis?0010803	https://raresource.nih.gov/literature/gene/ALOXE3	59344	ENSG00000179148	13743	https://pubmed.ncbi.nlm.nih.gov/?term=ALOXE3	None	None	8950	119
ALPL	alkaline phosphatase, biomineralization associated	Childhood-onset hypophosphatasia?0008735	https://raresource.nih.gov/literature/gene/ALPL	249	ENSG00000162551	438	https://pubmed.ncbi.nlm.nih.gov/?term=ALPL	None	None	29084	1826
ALS2	alsin Rho guanine nucleotide exchange factor ALS2	Infantile-onset ascending hereditary spastic paralysis?0004914;Juvenile primary lateral sclerosis?0004485;Juvenile amyotrophic lateral sclerosis?0011901	https://raresource.nih.gov/literature/gene/ALS2	57679	ENSG00000003393	443	https://pubmed.ncbi.nlm.nih.gov/?term=ALS2	None	None	29849	221
ALX4	ALX homeobox 4	Potocki-Shaffer syndrome?0009762	https://raresource.nih.gov/literature/gene/ALX4	60529	ENSG00000052850	450	https://pubmed.ncbi.nlm.nih.gov/?term=ALX4	None	None	21441	197
AMACR	alpha-methylacyl-CoA racemase	Congenital bile acid synthesis defect type 4?0010046	https://raresource.nih.gov/literature/gene/AMACR	23600	ENSG00000242110	451	https://pubmed.ncbi.nlm.nih.gov/?term=AMACR	None	None	8402	990
AMBN	ameloblastin	Hypoplastic amelogenesis imperfecta?0000645	https://raresource.nih.gov/literature/gene/AMBN	258	ENSG00000178522	452	https://pubmed.ncbi.nlm.nih.gov/?term=AMBN	None	None	7346	457
AMELX	amelogenin X-linked	Hypomaturation amelogenesis imperfecta?0008349;Amelogenesis imperfecta, type ie?0009943	https://raresource.nih.gov/literature/gene/AMELX	265	ENSG00000125363	461	https://pubmed.ncbi.nlm.nih.gov/?term=AMELX	None	None	251	379
AMER1	APC membrane recruitment protein 1	Osteopathia striata-cranial sclerosis syndrome?0004148	https://raresource.nih.gov/literature/gene/AMER1	139285	ENSG00000184675	26837	https://pubmed.ncbi.nlm.nih.gov/?term=AMER1	None	None	5874	246
AMH	anti-Mullerian hormone	Persistent Müllerian duct syndrome?0008435	https://raresource.nih.gov/literature/gene/AMH	268	ENSG00000104899	464	https://pubmed.ncbi.nlm.nih.gov/?term=AMH	None	None	1680	11047
AMHR2	anti-Mullerian hormone receptor type 2	Persistent Müllerian duct syndrome?0008435	https://raresource.nih.gov/literature/gene/AMHR2	269	ENSG00000135409	465	https://pubmed.ncbi.nlm.nih.gov/?term=AMHR2	None	None	3743	9681
AMN	amnion associated transmembrane protein	Imerslund-Gräsbeck syndrome?0007006	https://raresource.nih.gov/literature/gene/AMN	81693	ENSG00000166126	14604	https://pubmed.ncbi.nlm.nih.gov/?term=AMN	None	None	3510	171
AMPD1	adenosine monophosphate deaminase 1	Adenosine monophosphate deaminase deficiency?0000547	https://raresource.nih.gov/literature/gene/AMPD1	270	ENSG00000116748	468	https://pubmed.ncbi.nlm.nih.gov/?term=AMPD1	None	None	9853	630
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	18
ANG	angiogenin	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	21514
ANIB2	Aneurysm, intracranial berry, 2	Aneurysm, intracranial berry, 2?0010033	https://raresource.nih.gov/literature/gene/ANIB2	449013			https://pubmed.ncbi.nlm.nih.gov/?term=ANIB2	None	None	None	5
ANK1	ankyrin 1	Hereditary spherocytosis?0006639	https://raresource.nih.gov/literature/gene/ANK1	286	ENSG00000029534	492	https://pubmed.ncbi.nlm.nih.gov/?term=ANK1	None	None	94334	817
ANK2	ankyrin 2	Cardiac arrhythmia, ankyrin-b-related?0010432;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/ANK2	287	ENSG00000145362	493	https://pubmed.ncbi.nlm.nih.gov/?term=ANK2	None	None	199262	306
ANKFY1	ankyrin repeat and FYVE domain containing 1	Genetic 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	33
ANKH	ANKH inorganic pyrophosphate transport regulator	Familial calcium pyrophosphate deposition?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	462
ANKLE2	ankyrin repeat and LEM domain containing 2	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	26
ANKRD1	ankyrin repeat domain 1	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/ANKRD1	27063	ENSG00000148677	15819	https://pubmed.ncbi.nlm.nih.gov/?term=ANKRD1	None	None	5191	448
ANKRD11	ankyrin repeat domain containing 11	KBG syndrome?0000082;16q24.3 microdeletion syndrome?0010935	https://raresource.nih.gov/literature/gene/ANKRD11	29123	ENSG00000167522	21316	https://pubmed.ncbi.nlm.nih.gov/?term=ANKRD11	None	None	83591	191
ANKRD26	ankyrin repeat domain containing 26	Familial platelet disorder with associated myeloid malignancy?0010352;Thrombocytopenia 2?0005191	https://raresource.nih.gov/literature/gene/ANKRD26	22852	ENSG00000107890	29186	https://pubmed.ncbi.nlm.nih.gov/?term=ANKRD26	None	None	36843	126
ANKRD55	ankyrin repeat domain 55	Oligoarticular juvenile idiopathic arthritis?0004261;Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis?0003931	https://raresource.nih.gov/literature/gene/ANKRD55	79722	ENSG00000164512	25681	https://pubmed.ncbi.nlm.nih.gov/?term=ANKRD55	None	None	52938	42
ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	Situs inversus totalis?0004883	https://raresource.nih.gov/literature/gene/ANKS3	124401	ENSG00000168096	29422	https://pubmed.ncbi.nlm.nih.gov/?term=ANKS3	None	None	19541	19
ANLN	anillin, actin binding protein	Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/ANLN	54443	ENSG00000011426	14082	https://pubmed.ncbi.nlm.nih.gov/?term=ANLN	None	None	22996	464
ANO5	anoctamin 5	Gnathodiaphyseal dysplasia?0008698	https://raresource.nih.gov/literature/gene/ANO5	203859	ENSG00000171714	27337	https://pubmed.ncbi.nlm.nih.gov/?term=ANO5	None	None	188720	178
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	231
ANOS1	anosmin 1	Hypogonadotropic hypogonadism 1 with or without anosmia?0003071;Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/ANOS1	3730	ENSG00000011201	6211	https://pubmed.ncbi.nlm.nih.gov/?term=ANOS1	None	None	35304	585
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	4518
ANTXR2	ANTXR cell adhesion molecule 2	Infantile systemic hyalinosis?0006807	https://raresource.nih.gov/literature/gene/ANTXR2	118429	ENSG00000163297	21732	https://pubmed.ncbi.nlm.nih.gov/?term=ANTXR2	None	None	91580	285
ANXA11	annexin A11	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/ANXA11	311	ENSG00000122359	535	https://pubmed.ncbi.nlm.nih.gov/?term=ANXA11	None	None	21364	175
AP1B1	adaptor related protein complex 1 subunit beta 1	Keratitis-ichthyosis-deafness syndrome, autosomal recessive?0002946	https://raresource.nih.gov/literature/gene/AP1B1	162	ENSG00000100280	554	https://pubmed.ncbi.nlm.nih.gov/?term=AP1B1	None	None	31023	44
AP1S2	adaptor related protein complex 1 subunit sigma 2	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome?0008520	https://raresource.nih.gov/literature/gene/AP1S2	8905	ENSG00000182287	560	https://pubmed.ncbi.nlm.nih.gov/?term=AP1S2	None	None	4787	278
AP1S3	adaptor related protein complex 1 subunit sigma 3	Pustulosis palmaris et plantaris?0012820;Generalized pustular psoriasis?0012819	https://raresource.nih.gov/literature/gene/AP1S3	130340	ENSG00000152056	18971	https://pubmed.ncbi.nlm.nih.gov/?term=AP1S3	None	None	33567	41
AP2M1	adaptor related protein complex 2 subunit mu 1	Myoclonic-astatic epilepsy?0002169	https://raresource.nih.gov/literature/gene/AP2M1	1173	ENSG00000161203	564	https://pubmed.ncbi.nlm.nih.gov/?term=AP2M1	None	None	4107	189
AP2S1	adaptor related protein complex 2 subunit sigma 1	Familial hypocalciuric hypercalcemia type 3?0002878	https://raresource.nih.gov/literature/gene/AP2S1	1175	ENSG00000042753	565	https://pubmed.ncbi.nlm.nih.gov/?term=AP2S1	None	None	5363	269
AP3B1	adaptor related protein complex 3 subunit beta 1	Hermansky-pudlak syndrome 2?0009435	https://raresource.nih.gov/literature/gene/AP3B1	8546	ENSG00000132842	566	https://pubmed.ncbi.nlm.nih.gov/?term=AP3B1	None	None	108856	1217
AP3D1	adaptor related protein complex 3 subunit delta 1	Ocular albinism with late-onset sensorineural deafness?0000592;X-linked recessive ocular albinism?0008471	https://raresource.nih.gov/literature/gene/AP3D1	8943	ENSG00000065000	568	https://pubmed.ncbi.nlm.nih.gov/?term=AP3D1	None	None	22668	37
AP4B1	adaptor related protein complex 4 subunit beta 1	Severe intellectual disability and progressive spastic paraplegia?0010999	https://raresource.nih.gov/literature/gene/AP4B1	10717	ENSG00000134262	572	https://pubmed.ncbi.nlm.nih.gov/?term=AP4B1	None	None	4825	281
AP4E1	adaptor related protein complex 4 subunit epsilon 1	Severe intellectual disability and progressive spastic paraplegia?0010999;Spastic paraplegia 51, autosomal recessive?0013737	https://raresource.nih.gov/literature/gene/AP4E1	23431	ENSG00000081014	573	https://pubmed.ncbi.nlm.nih.gov/?term=AP4E1	None	None	27154	35
AP4M1	adaptor related protein complex 4 subunit mu 1	Severe intellectual disability and progressive spastic paraplegia?0010999	https://raresource.nih.gov/literature/gene/AP4M1	9179	ENSG00000221838	574	https://pubmed.ncbi.nlm.nih.gov/?term=AP4M1	None	None	3113	61
AP4S1	adaptor related protein complex 4 subunit sigma 1	Severe intellectual disability and progressive spastic paraplegia?0010999	https://raresource.nih.gov/literature/gene/AP4S1	11154	ENSG00000100478	575	https://pubmed.ncbi.nlm.nih.gov/?term=AP4S1	None	None	22204	24
APC	APC regulator of WNT signaling pathway	Gardner syndrome?0006482;Desmoid tumor?0001820;Cenani-Lenz syndrome?0005084	https://raresource.nih.gov/literature/gene/APC	324	ENSG00000134982	583	https://pubmed.ncbi.nlm.nih.gov/?term=APC	None	None	77103	18952
APC2	APC regulator of WNT signaling pathway 2	Sotos syndrome?0010091	https://raresource.nih.gov/literature/gene/APC2	10297	ENSG00000115266	24036	https://pubmed.ncbi.nlm.nih.gov/?term=APC2	None	None	10035	190
APCDD1	APC down-regulated 1	Hypotrichosis simplex?0009170	https://raresource.nih.gov/literature/gene/APCDD1	147495	ENSG00000154856	15718	https://pubmed.ncbi.nlm.nih.gov/?term=APCDD1	None	None	10146	225
APMR2	Alopecia-intellectual disability syndrome 2	Alopecia-intellectual disability syndrome 2?0004291	https://raresource.nih.gov/literature/gene/APMR2	100049544			https://pubmed.ncbi.nlm.nih.gov/?term=APMR2	None	None	None	3
APOA1	apolipoprotein A1	Apolipoprotein A-I deficiency?0002872	https://raresource.nih.gov/literature/gene/APOA1	335	ENSG00000118137	600	https://pubmed.ncbi.nlm.nih.gov/?term=APOA1	None	None	1456	10272
APOA5	apolipoprotein A5	Familial apolipoprotein A5 deficiency?0006704	https://raresource.nih.gov/literature/gene/APOA5	116519	ENSG00000110243	17288	https://pubmed.ncbi.nlm.nih.gov/?term=APOA5	None	None	1576	925
APOB	apolipoprotein B	Hypobetalipoproteinemia, familial, 1?0002876;Hypercholesterolemia, familial, 2?0008588;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	15149
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	1008
APOE	apolipoprotein E	Sea-blue histiocytosis?0008241;Dysbetalipoproteinemia?0006703;Alzheimer disease 2?0012799	https://raresource.nih.gov/literature/gene/APOE	348	ENSG00000130203	613	https://pubmed.ncbi.nlm.nih.gov/?term=APOE	None	None	2685	33315
APOL1	apolipoprotein L1	Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/APOL1	8542	ENSG00000100342	618	https://pubmed.ncbi.nlm.nih.gov/?term=APOL1	None	None	7159	983
APP	amyloid beta precursor protein	Early-onset autosomal dominant Alzheimer disease?0012798	https://raresource.nih.gov/literature/gene/APP	351	ENSG00000142192	620	https://pubmed.ncbi.nlm.nih.gov/?term=APP	None	None	82575	22280
APPL1	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	MODY?0003697	https://raresource.nih.gov/literature/gene/APPL1	26060	ENSG00000157500	24035	https://pubmed.ncbi.nlm.nih.gov/?term=APPL1	None	None	16102	359
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	1454
APTX	aprataxin	Ataxia-oculomotor apraxia type 1?0009283	https://raresource.nih.gov/literature/gene/APTX	54840	ENSG00000137074	15984	https://pubmed.ncbi.nlm.nih.gov/?term=APTX	None	None	52297	313
AQP2	aquaporin 2	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	2172
AQP5	aquaporin 5	Non-epidermolytic palmoplantar keratoderma?0001862	https://raresource.nih.gov/literature/gene/AQP5	362	ENSG00000161798	638	https://pubmed.ncbi.nlm.nih.gov/?term=AQP5	None	None	2065	1971
AR	androgen receptor	Partial androgen insensitivity syndrome?0005692;Kennedy disease?0006818;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	34402
ARF1	ADP ribosylation factor 1	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	1134
ARFGEF2	ADP ribosylation factor guanine nucleotide exchange factor 2	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	99
ARG1	arginase 1	Argininemia?0005840	https://raresource.nih.gov/literature/gene/ARG1	383	ENSG00000118520	663	https://pubmed.ncbi.nlm.nih.gov/?term=ARG1	None	None	42098	201
ARHGAP24	Rho GTPase activating protein 24	Genetic 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	2272
ARHGAP31	Rho GTPase activating protein 31	Adams-Oliver syndrome?0005739	https://raresource.nih.gov/literature/gene/ARHGAP31	57514	ENSG00000031081	29216	https://pubmed.ncbi.nlm.nih.gov/?term=ARHGAP31	None	None	47877	107
ARHGDIA	Rho GDP dissociation inhibitor alpha	Genetic 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	465
ARHGEF18	Rho/Rac guanine nucleotide exchange factor 18	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/ARHGEF18	23370	ENSG00000104880	17090	https://pubmed.ncbi.nlm.nih.gov/?term=ARHGEF18	None	None	32570	40
ARID1A	AT-rich interaction domain 1A	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	1926
ARID1B	AT-rich interaction domain 1B	6q25 microdeletion syndrome?0003764;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	542
ARID2	AT-rich interaction domain 2	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	368
ARL11	ADP ribosylation factor like GTPase 11	B-cell chronic lymphocytic leukemia?0006104	https://raresource.nih.gov/literature/gene/ARL11	115761	ENSG00000152213	24046	https://pubmed.ncbi.nlm.nih.gov/?term=ARL11	None	None	2751	43
ARL13B	ADP ribosylation factor like GTPase 13B	Joubert syndrome?0006802	https://raresource.nih.gov/literature/gene/ARL13B	200894	ENSG00000169379	25419	https://pubmed.ncbi.nlm.nih.gov/?term=ARL13B	None	None	30103	206
ARL2BP	ADP ribosylation factor like GTPase 2 binding protein	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/ARL2BP	23568	ENSG00000102931	17146	https://pubmed.ncbi.nlm.nih.gov/?term=ARL2BP	None	None	2937	96
ARL3	ADP ribosylation factor like GTPase 3	Joubert syndrome?0006802;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/ARL3	403	ENSG00000138175	694	https://pubmed.ncbi.nlm.nih.gov/?term=ARL3	None	None	15393	132
ARL6	ADP ribosylation factor like GTPase 6	Bardet-Biedl syndrome?0006866;Retinitis pigmentosa?0005694;Bardet-biedl syndrome 3?0000822;Bardet-biedl syndrome 1?0000820	https://raresource.nih.gov/literature/gene/ARL6	84100	ENSG00000113966	13210	https://pubmed.ncbi.nlm.nih.gov/?term=ARL6	None	None	13935	89
ARL6IP6	ADP ribosylation factor like GTPase 6 interacting protein 6	Cutis marmorata telangiectatica congenita?0006228	https://raresource.nih.gov/literature/gene/ARL6IP6	151188	ENSG00000177917	24048	https://pubmed.ncbi.nlm.nih.gov/?term=ARL6IP6	None	None	17780	8
ARMC5	armadillo repeat containing 5	Cushing syndrome due to macronodular adrenal hyperplasia?0010824	https://raresource.nih.gov/literature/gene/ARMC5	79798	ENSG00000140691	25781	https://pubmed.ncbi.nlm.nih.gov/?term=ARMC5	None	None	4519	109
ARMC9	armadillo repeat containing 9	Joubert syndrome?0006802	https://raresource.nih.gov/literature/gene/ARMC9	80210	ENSG00000135931	20730	https://pubmed.ncbi.nlm.nih.gov/?term=ARMC9	None	None	67437	217
ARNT2	aryl hydrocarbon receptor nuclear translocator 2	Septo-optic dysplasia spectrum?0007627	https://raresource.nih.gov/literature/gene/ARNT2	9915	ENSG00000172379	16876	https://pubmed.ncbi.nlm.nih.gov/?term=ARNT2	None	None	43786	164
ARSG	arylsulfatase G	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	74
ARSL	arylsulfatase L	Brachytelephalangic chondrodysplasia punctata?0001296	https://raresource.nih.gov/literature/gene/ARSL	415	ENSG00000157399	719	https://pubmed.ncbi.nlm.nih.gov/?term=ARSL	None	None	8862	106
ARVCF	ARVCF delta catenin family member	22q11.2 deletion syndrome?0010299	https://raresource.nih.gov/literature/gene/ARVCF	421	ENSG00000099889	728	https://pubmed.ncbi.nlm.nih.gov/?term=ARVCF	None	None	18012	90
ARX	aristaless related homeobox	Intellectual developmental disorder, x-linked 29?0005614;Partington syndrome?0004235;Corpus callosum agenesis-abnormal genitalia syndrome?0004528;X-linked lissencephaly with abnormal genitalia?0012491;Infantile spasms syndrome?0007887;Early infantile epileptic encephalopathy?0009255	https://raresource.nih.gov/literature/gene/ARX	170302	ENSG00000004848	18060	https://pubmed.ncbi.nlm.nih.gov/?term=ARX	None	None	3625	533
ASAH1	N-acylsphingosine amidohydrolase 1	Farber disease?0006426;Spinal muscular atrophy-progressive myoclonic epilepsy syndrome?0003875	https://raresource.nih.gov/literature/gene/ASAH1	427	ENSG00000104763	735	https://pubmed.ncbi.nlm.nih.gov/?term=ASAH1	None	None	15716	3766
ASH1L	ASH1 like histone lysine methyltransferase	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	297
ASL	argininosuccinate lyase	Argininosuccinic aciduria?0005843	https://raresource.nih.gov/literature/gene/ASL	435	ENSG00000126522	746	https://pubmed.ncbi.nlm.nih.gov/?term=ASL	None	None	8600	849
ASPM	assembly factor for spindle microtubules	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	1088
ASPSCR1	ASPSCR1 tether for SLC2A4, UBX domain containing	Alveolar soft tissue sarcoma?0005654	https://raresource.nih.gov/literature/gene/ASPSCR1	79058	ENSG00000169696	13825	https://pubmed.ncbi.nlm.nih.gov/?term=ASPSCR1	None	None	14052	244
ASXL1	ASXL transcriptional regulator 1	Chronic myelomonocytic leukemia?0008225;Bohring-Opitz syndrome?0010140	https://raresource.nih.gov/literature/gene/ASXL1	171023	ENSG00000171456	18318	https://pubmed.ncbi.nlm.nih.gov/?term=ASXL1	None	None	34525	1441
ASXL3	ASXL transcriptional regulator 3	Bainbridge-Ropers syndrome?0013259	https://raresource.nih.gov/literature/gene/ASXL3	80816	ENSG00000141431	29357	https://pubmed.ncbi.nlm.nih.gov/?term=ASXL3	None	None	45385	110
ATAD1	ATPase family AAA domain containing 1	Hereditary hyperekplexia?0003129	https://raresource.nih.gov/literature/gene/ATAD1	84896	ENSG00000138138	25903	https://pubmed.ncbi.nlm.nih.gov/?term=ATAD1	None	None	32030	656
ATF6	activating transcription factor 6	Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/ATF6	22926	ENSG00000118217	791	https://pubmed.ncbi.nlm.nih.gov/?term=ATF6	None	None	70331	2786
ATL1	atlastin GTPase 1	Autosomal dominant spastic paraplegia type 3?0005041;Hereditary sensory and autonomic neuropathy type 1?0006635	https://raresource.nih.gov/literature/gene/ATL1	51062	ENSG00000198513	11231	https://pubmed.ncbi.nlm.nih.gov/?term=ATL1	None	None	22165	702
ATL3	atlastin GTPase 3	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	42
ATM	ATM serine/threonine kinase	B-cell chronic lymphocytic leukemia?0006104;Ataxia-telangiectasia?0005862;Familial prostate cancer?0004520;Mantle cell lymphoma?0006969	https://raresource.nih.gov/literature/gene/ATM	472	ENSG00000149311	795	https://pubmed.ncbi.nlm.nih.gov/?term=ATM	None	None	59742	14462
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	1367
ATP11A	ATPase phospholipid transporting 11A	Idiopathic pulmonary fibrosis?0008609	https://raresource.nih.gov/literature/gene/ATP11A	23250	ENSG00000068650	13552	https://pubmed.ncbi.nlm.nih.gov/?term=ATP11A	None	None	62252	63
ATP13A2	ATPase cation transporting 13A2	Kufor-Rakeb syndrome?0009174	https://raresource.nih.gov/literature/gene/ATP13A2	23400	ENSG00000159363	30213	https://pubmed.ncbi.nlm.nih.gov/?term=ATP13A2	None	None	13089	368
ATP1A2	ATPase Na+/K+ transporting subunit alpha 2	Familial or sporadic hemiplegic migraine?0010768;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	368
ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome?0001188;Alternating hemiplegia of childhood?0000011;Rapid-onset dystonia-parkinsonism?0009628	https://raresource.nih.gov/literature/gene/ATP1A3	478	ENSG00000105409	801	https://pubmed.ncbi.nlm.nih.gov/?term=ATP1A3	None	None	9810	761
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	398
ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	Darier disease?0006243	https://raresource.nih.gov/literature/gene/ATP2A2	488	ENSG00000174437	812	https://pubmed.ncbi.nlm.nih.gov/?term=ATP2A2	None	None	20394	1651
ATP2C1	ATPase secretory pathway Ca2+ transporting 1	Familial benign chronic pemphigus?0006559	https://raresource.nih.gov/literature/gene/ATP2C1	27032	ENSG00000017260	13211	https://pubmed.ncbi.nlm.nih.gov/?term=ATP2C1	None	None	61997	417
ATP6V0A2	ATPase H+ transporting V0 subunit a2	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	1909
ATP6V0A4	ATPase H+ transporting V0 subunit a4	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	621
ATP6V1B1	ATPase H+ transporting V1 subunit B1	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	193
ATP6V1B2	ATPase H+ transporting V1 subunit B2	DOORS syndrome?0001685;Autosomal dominant deafness-onychodystrophy syndrome?0004732;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	117
ATP7A	ATPase copper transporting alpha	Occipital horn syndrome?0004017;Menkes disease?0001521;Hirschsprung disease?0006660	https://raresource.nih.gov/literature/gene/ATP7A	538	ENSG00000165240	869	https://pubmed.ncbi.nlm.nih.gov/?term=ATP7A	None	None	22939	12544
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	688
ATP8A2	ATPase phospholipid transporting 8A2	Dysequilibrium syndrome?0001998	https://raresource.nih.gov/literature/gene/ATP8A2	51761	ENSG00000132932	13533	https://pubmed.ncbi.nlm.nih.gov/?term=ATP8A2	None	None	156890	2242
ATP8B1	ATPase phospholipid transporting 8B1	Intrahepatic cholestasis of pregnancy?0009804;Progressive familial intrahepatic cholestasis type 1?0009802;Benign recurrent intrahepatic cholestasis type 1?0010028	https://raresource.nih.gov/literature/gene/ATP8B1	5205	ENSG00000081923	3706	https://pubmed.ncbi.nlm.nih.gov/?term=ATP8B1	None	None	49235	340
ATR	ATR serine/threonine kinase	Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/ATR	545	ENSG00000175054	882	https://pubmed.ncbi.nlm.nih.gov/?term=ATR	None	None	56626	5111
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	185
ATRX	ATRX chromatin remodeler	Alpha-thalassemia-X-linked intellectual disability syndrome?0005864;Intellectual disability-hypotonic facies syndrome, x-linked, 1?0003521	https://raresource.nih.gov/literature/gene/ATRX	546	ENSG00000085224	886	https://pubmed.ncbi.nlm.nih.gov/?term=ATRX	None	None	57289	2051
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	1320
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	95
ATXN2	ataxin 2	Spinocerebellar ataxia type 2?0004072;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/ATXN2	6311	ENSG00000204842	10555	https://pubmed.ncbi.nlm.nih.gov/?term=ATXN2	None	None	45318	734
ATXN7	ataxin 7	Spinocerebellar ataxia type 7?0004955	https://raresource.nih.gov/literature/gene/ATXN7	6314	ENSG00000163635	10560	https://pubmed.ncbi.nlm.nih.gov/?term=ATXN7	None	None	56827	365
ATXN8	ataxin 8	Spinocerebellar ataxia type 8?0004956	https://raresource.nih.gov/literature/gene/ATXN8	724066	ENSG00000107815	32925	https://pubmed.ncbi.nlm.nih.gov/?term=ATXN8	None	None	None	24
ATXN8OS	ATXN8 opposite strand lncRNA	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	118
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	82
AURKC	aurora kinase C	Male infertility due to large-headed multiflagellar polyploid spermatozoa?0012385	https://raresource.nih.gov/literature/gene/AURKC	6795	ENSG00000105146	11391	https://pubmed.ncbi.nlm.nih.gov/?term=AURKC	None	None	3252	182
AVPR2	arginine vasopressin receptor 2	Nephrogenic syndrome of inappropriate antidiuresis?0010306;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	1375
AXIN1	axin 1	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	1425
B2M	beta-2-microglobulin	Immunodeficiency by defective expression of MHC class I?0008427	https://raresource.nih.gov/literature/gene/B2M	567	ENSG00000166710	914	https://pubmed.ncbi.nlm.nih.gov/?term=B2M	None	None	3278	7982
B3GALNT2	beta-1,3-N-acetylgalactosaminyltransferase 2	Muscle-eye-brain disease?0000156;Walker-Warburg syndrome?0002599	https://raresource.nih.gov/literature/gene/B3GALNT2	148789	ENSG00000162885	28596	https://pubmed.ncbi.nlm.nih.gov/?term=B3GALNT2	None	None	21731	33
B3GALT6	beta-1,3-galactosyltransferase 6	Spondyloepimetaphyseal dysplasia with joint laxity?0004982;Eye defects-arachnodactyly-cardiopathy syndrome?0010054	https://raresource.nih.gov/literature/gene/B3GALT6	126792	ENSG00000176022	17978	https://pubmed.ncbi.nlm.nih.gov/?term=B3GALT6	None	None	2462	58
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	76
B4GALNT1	beta-1,4-N-acetyl-galactosaminyltransferase 1	Autosomal recessive spastic paraplegia type 26?0009587	https://raresource.nih.gov/literature/gene/B4GALNT1	2583	ENSG00000135454	4117	https://pubmed.ncbi.nlm.nih.gov/?term=B4GALNT1	None	None	3005	239
B4GALT1	beta-1,4-galactosyltransferase 1	B4GALT1-CDG?0009841	https://raresource.nih.gov/literature/gene/B4GALT1	2683	ENSG00000086062	924	https://pubmed.ncbi.nlm.nih.gov/?term=B4GALT1	None	None	25843	310
B4GALT7	beta-1,4-galactosyltransferase 7	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome?0009991	https://raresource.nih.gov/literature/gene/B4GALT7	11285	ENSG00000027847	930	https://pubmed.ncbi.nlm.nih.gov/?term=B4GALT7	None	None	5776	81
B4GAT1	beta-1,4-glucuronyltransferase 1	Walker-Warburg syndrome?0002599	https://raresource.nih.gov/literature/gene/B4GAT1	11041	ENSG00000174684	15685	https://pubmed.ncbi.nlm.nih.gov/?term=B4GAT1	None	None	1429	74
B9D1	B9 domain containing 1	Joubert syndrome?0006802;Meckel syndrome?0003436	https://raresource.nih.gov/literature/gene/B9D1	27077	ENSG00000108641	24123	https://pubmed.ncbi.nlm.nih.gov/?term=B9D1	None	None	9856	74
B9D2	B9 domain containing 2	Meckel syndrome?0003436	https://raresource.nih.gov/literature/gene/B9D2	80776	ENSG00000123810	28636	https://pubmed.ncbi.nlm.nih.gov/?term=B9D2	None	None	284	21
BAG3	BAG cochaperone 3	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/BAG3	9531	ENSG00000151929	939	https://pubmed.ncbi.nlm.nih.gov/?term=BAG3	None	None	13974	807
BAG5	BAG cochaperone 5	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/BAG5	9529	ENSG00000166170	941	https://pubmed.ncbi.nlm.nih.gov/?term=BAG5	None	None	3075	80
BANF1	BAF 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	928
BAP1	BRCA1 associated protein 1	BAP1-related tumor predisposition syndrome?0013219;Uveal melanoma?0008621;Meningioma?0007015;Pleural mesothelioma?0007026;Familial melanoma?0003460	https://raresource.nih.gov/literature/gene/BAP1	8314	ENSG00000163930	950	https://pubmed.ncbi.nlm.nih.gov/?term=BAP1	None	None	6888	1672
BAZ1B	bromodomain adjacent to zinc finger domain 1B	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/BAZ1B	9031	ENSG00000009954	961	https://pubmed.ncbi.nlm.nih.gov/?term=BAZ1B	None	None	34224	126
BBIP1	BBSome interacting protein 1	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	Bardet-Biedl syndrome?0006866;Bardet-biedl syndrome 1?0000820	https://raresource.nih.gov/literature/gene/BBS1	582	ENSG00000174483	966	https://pubmed.ncbi.nlm.nih.gov/?term=BBS1	None	None	53	210
BBS10	Bardet-Biedl syndrome 10	Bardet-Biedl syndrome?0006866;Bardet-biedl syndrome 10?0010209	https://raresource.nih.gov/literature/gene/BBS10	79738	ENSG00000179941	26291	https://pubmed.ncbi.nlm.nih.gov/?term=BBS10	None	None	2726	83
BBS12	Bardet-Biedl syndrome 12	Bardet-Biedl syndrome?0006866;Bardet-biedl syndrome 12?0010211	https://raresource.nih.gov/literature/gene/BBS12	166379	ENSG00000181004	26648	https://pubmed.ncbi.nlm.nih.gov/?term=BBS12	None	None	5939	49
BBS2	Bardet-Biedl syndrome 2	Bardet-Biedl syndrome?0006866;Retinitis pigmentosa?0005694;Bardet-biedl syndrome 2?0000821	https://raresource.nih.gov/literature/gene/BBS2	583	ENSG00000125124	967	https://pubmed.ncbi.nlm.nih.gov/?term=BBS2	None	None	9664	310
BBS4	Bardet-Biedl syndrome 4	Bardet-Biedl syndrome?0006866;Bardet-biedl syndrome 4?0000823	https://raresource.nih.gov/literature/gene/BBS4	585	ENSG00000140463	969	https://pubmed.ncbi.nlm.nih.gov/?term=BBS4	None	None	16682	137
BBS5	Bardet-Biedl syndrome 5	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	66
BBS7	Bardet-Biedl syndrome 7	Bardet-biedl syndrome 7?0010206;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBS7	55212	ENSG00000138686	18758	https://pubmed.ncbi.nlm.nih.gov/?term=BBS7	None	None	17430	73
BBS9	Bardet-Biedl syndrome 9	Bardet-Biedl syndrome?0006866;Bardet-biedl syndrome 9?0010208	https://raresource.nih.gov/literature/gene/BBS9	27241	ENSG00000122507	30000	https://pubmed.ncbi.nlm.nih.gov/?term=BBS9	None	None	261891	3608
BCAP31	B cell receptor associated protein 31	CADDS?0012472	https://raresource.nih.gov/literature/gene/BCAP31	10134	ENSG00000185825	16695	https://pubmed.ncbi.nlm.nih.gov/?term=BCAP31	None	None	5252	222
BCHE	butyrylcholinesterase	Butyrylcholinesterase deficiency?0007482	https://raresource.nih.gov/literature/gene/BCHE	590	ENSG00000114200	983	https://pubmed.ncbi.nlm.nih.gov/?term=BCHE	None	None	26809	23604
BCL10	BCL10 immune signaling adaptor	MALT lymphoma?0006485	https://raresource.nih.gov/literature/gene/BCL10	8915	ENSG00000142867	989	https://pubmed.ncbi.nlm.nih.gov/?term=BCL10	None	None	6219	683
BCL2	BCL2 apoptosis regulator	Follicular lymphoma?0002356	https://raresource.nih.gov/literature/gene/BCL2	596	ENSG00000171791	990	https://pubmed.ncbi.nlm.nih.gov/?term=BCL2	None	None	65794	71031
BCL6	BCL6 transcription repressor	Follicular lymphoma?0002356	https://raresource.nih.gov/literature/gene/BCL6	604	ENSG00000113916	1001	https://pubmed.ncbi.nlm.nih.gov/?term=BCL6	None	None	12586	4118
BCL7B	BAF chromatin remodeling complex subunit BCL7B	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/BCL7B	9275	ENSG00000106635	1005	https://pubmed.ncbi.nlm.nih.gov/?term=BCL7B	None	None	9729	37
BCOR	BCL6 corepressor	Oculofaciocardiodental syndrome?0004628;Microphthalmia, Lenz type?0000087;Acute promyelocytic leukemia?0000538	https://raresource.nih.gov/literature/gene/BCOR	54880	ENSG00000183337	20893	https://pubmed.ncbi.nlm.nih.gov/?term=BCOR	None	None	27719	718
BCR	BCR activator of RhoGEF and GTPase	Chronic myeloid leukemia?0006105	https://raresource.nih.gov/literature/gene/BCR	613	ENSG00000186716	1014	https://pubmed.ncbi.nlm.nih.gov/?term=BCR	None	None	57587	18044
BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	Björnstad syndrome?0000022;GRACILE syndrome?0000001;Isolated complex III deficiency?0008295	https://raresource.nih.gov/literature/gene/BCS1L	617	ENSG00000074582	1020	https://pubmed.ncbi.nlm.nih.gov/?term=BCS1L	None	None	1647	255
BDNF	brain derived neurotrophic factor	Congenital central hypoventilation syndrome?0008535;WAGR syndrome?0005528	https://raresource.nih.gov/literature/gene/BDNF	627	ENSG00000176697	1033	https://pubmed.ncbi.nlm.nih.gov/?term=BDNF	None	None	24662	32811
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	124
BEST1	bestrophin 1	Retinitis pigmentosa?0005694;Autosomal dominant vitreoretinochoroidopathy?0005507;Autosomal recessive bestrophinopathy?0010301;Adult-onset foveomacular vitelliform dystrophy?0010909;Best vitelliform macular dystrophy?0000182	https://raresource.nih.gov/literature/gene/BEST1	7439	ENSG00000167995	12703	https://pubmed.ncbi.nlm.nih.gov/?term=BEST1	None	None	6607	587
BFIS1	Benign familial infantile seizures	Seizures, benign familial infantile, 1?0000856	https://raresource.nih.gov/literature/gene/BFIS1	8181			https://pubmed.ncbi.nlm.nih.gov/?term=BFIS1	None	None	None	1
BGN	biglycan	X-linked spondyloepimetaphyseal dysplasia?0004979	https://raresource.nih.gov/literature/gene/BGN	633	ENSG00000182492	1044	https://pubmed.ncbi.nlm.nih.gov/?term=BGN	None	None	3605	2086
BHLHA9	basic helix-loop-helix family member a9	Gollop-Wolfgang complex?0002285;Mesoaxial synostotic syndactyly with phalangeal reduction?0010590;Tibial aplasia-ectrodactyly syndrome?0001369	https://raresource.nih.gov/literature/gene/BHLHA9	727857	ENSG00000205899	35126	https://pubmed.ncbi.nlm.nih.gov/?term=BHLHA9	None	None	1552	31
BICC1	BicC family RNA binding protein 1	Autosomal dominant polycystic kidney disease?0010413	https://raresource.nih.gov/literature/gene/BICC1	80114	ENSG00000122870	19351	https://pubmed.ncbi.nlm.nih.gov/?term=BICC1	None	None	118837	98
BICD2	BICD cargo adaptor 2	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy?0013222	https://raresource.nih.gov/literature/gene/BICD2	23299	ENSG00000185963	17208	https://pubmed.ncbi.nlm.nih.gov/?term=BICD2	None	None	21830	154
BIN1	bridging integrator 1	Autosomal dominant centronuclear myopathy?0012719;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	622
BIRC3	baculoviral IAP repeat containing 3	MALT lymphoma?0006485	https://raresource.nih.gov/literature/gene/BIRC3	330	ENSG00000023445	591	https://pubmed.ncbi.nlm.nih.gov/?term=BIRC3	None	None	8239	75
BLK	BLK proto-oncogene, Src family tyrosine kinase	MODY?0003697	https://raresource.nih.gov/literature/gene/BLK	640	ENSG00000136573	1057	https://pubmed.ncbi.nlm.nih.gov/?term=BLK	None	None	39827	390
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	1403
BLNK	B cell linker	Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/BLNK	29760	ENSG00000095585	14211	https://pubmed.ncbi.nlm.nih.gov/?term=BLNK	None	None	30606	599
BMP1	bone morphogenetic protein 1	Osteogenesis imperfecta type 3?0008695	https://raresource.nih.gov/literature/gene/BMP1	649	ENSG00000168487	1067	https://pubmed.ncbi.nlm.nih.gov/?term=BMP1	None	None	20621	1174
BMP15	bone morphogenetic protein 15	46,XX gonadal dysgenesis?0005671	https://raresource.nih.gov/literature/gene/BMP15	9210	ENSG00000130385	1068	https://pubmed.ncbi.nlm.nih.gov/?term=BMP15	None	None	2053	821
BMP2	bone morphogenetic protein 2	Brachydactyly type A2?0000979;20p12.3 microdeletion syndrome?0012492	https://raresource.nih.gov/literature/gene/BMP2	650	ENSG00000125845	1069	https://pubmed.ncbi.nlm.nih.gov/?term=BMP2	None	None	5391	7855
BMP4	bone morphogenetic protein 4	Microphthalmia with brain and digit anomalies?0003645	https://raresource.nih.gov/literature/gene/BMP4	652	ENSG00000125378	1071	https://pubmed.ncbi.nlm.nih.gov/?term=BMP4	None	None	3227	4546
BMPR1B	bone morphogenetic protein receptor type 1B	Brachydactyly type A2?0000979;Brachydactyly type A1?0000978;Brachydactyly type C?0000986;Acromesomelic dysplasia, Grebe type?0001300;Fibular aplasia-complex brachydactyly syndrome?0009879	https://raresource.nih.gov/literature/gene/BMPR1B	658	ENSG00000138696	1077	https://pubmed.ncbi.nlm.nih.gov/?term=BMPR1B	None	None	157663	574
BMPR2	bone morphogenetic protein receptor type 2	Pulmonary venoocclusive disease?0010153	https://raresource.nih.gov/literature/gene/BMPR2	659	ENSG00000204217	1078	https://pubmed.ncbi.nlm.nih.gov/?term=BMPR2	None	None	80996	1371
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	2903
BNC1	basonuclin 1	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	89
BNC2	basonuclin 2	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	110
BPGM	bisphosphoglycerate mutase	Hemolytic anemia due to diphosphoglycerate mutase deficiency?0001874	https://raresource.nih.gov/literature/gene/BPGM	669	ENSG00000172331	1093	https://pubmed.ncbi.nlm.nih.gov/?term=BPGM	None	None	12290	166
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	94
BRAF	B-Raf proto-oncogene, serine/threonine kinase	Syringocystadenoma papilliferum?0005100;Cardiofaciocutaneous syndrome?0009146;Craniopharyngioma?0010486;Langerhans cell histiocytosis?0006858;Noonan syndrome with multiple lentigines?0001100;Classic hairy cell leukemia?0006560;Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/BRAF	673	ENSG00000157764	1097	https://pubmed.ncbi.nlm.nih.gov/?term=BRAF	None	None	86169	21452
BRCA1	BRCA1 DNA repair associated	Familial prostate cancer?0004520;Cholangiocarcinoma?0009304;Fanconi anemia?0006425;Breast-ovarian cancer, familial, susceptibility to, 1?0012351;Familial pancreatic carcinoma?0004206	https://raresource.nih.gov/literature/gene/BRCA1	672	ENSG00000012048	1100	https://pubmed.ncbi.nlm.nih.gov/?term=BRCA1	None	None	40942	19094
BRCA2	BRCA2 DNA repair associated	Nephroblastoma?0007892;Breast-ovarian cancer, familial, susceptibility to, 2?0012352;Familial prostate cancer?0004520;Cholangiocarcinoma?0009304;Fanconi anemia?0006425;Familial pancreatic carcinoma?0004206	https://raresource.nih.gov/literature/gene/BRCA2	675	ENSG00000139618	1101	https://pubmed.ncbi.nlm.nih.gov/?term=BRCA2	None	None	38726	11304
BRD4	bromodomain containing 4	Cornelia 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	4287
BRIP1	BRCA1 interacting helicase 1	Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/BRIP1	83990	ENSG00000136492	20473	https://pubmed.ncbi.nlm.nih.gov/?term=BRIP1	None	None	60619	2064
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	254
BSCL2	BSCL2 lipid droplet biogenesis associated, seipin	Congenital generalized lipodystrophy?0013388;Autosomal dominant spastic paraplegia type 17?0004219	https://raresource.nih.gov/literature/gene/BSCL2	26580	ENSG00000168000	15832	https://pubmed.ncbi.nlm.nih.gov/?term=BSCL2	None	None	9136	462
BSND	barttin CLCNK type accessory subunit beta	Bartter syndrome type 4?0010508	https://raresource.nih.gov/literature/gene/BSND	7809	ENSG00000162399	16512	https://pubmed.ncbi.nlm.nih.gov/?term=BSND	None	None	8167	210
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	720
BTK	Bruton tyrosine kinase	X-linked agammaglobulinemia?0001033	https://raresource.nih.gov/literature/gene/BTK	695	ENSG00000010671	1133	https://pubmed.ncbi.nlm.nih.gov/?term=BTK	None	None	8127	7796
BTNL2	butyrophilin like 2	Sarcoidosis?0007607	https://raresource.nih.gov/literature/gene/BTNL2	56244	ENSG00000204290	1142	https://pubmed.ncbi.nlm.nih.gov/?term=BTNL2	None	None	6689	240
BTRC	beta-transducin repeat containing E3 ubiquitin protein ligase	Isolated split hand-split foot malformation?0006319	https://raresource.nih.gov/literature/gene/BTRC	8945	ENSG00000166167	1144	https://pubmed.ncbi.nlm.nih.gov/?term=BTRC	None	None	73757	402
BUB1	BUB1 mitotic checkpoint serine/threonine kinase	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	917
BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	Mosaic variegated aneuploidy syndrome?0003007	https://raresource.nih.gov/literature/gene/BUB1B	701	ENSG00000156970	1149	https://pubmed.ncbi.nlm.nih.gov/?term=BUB1B	None	None	20798	1135
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	334
BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/BUD23	114049	ENSG00000071462	16405	https://pubmed.ncbi.nlm.nih.gov/?term=BUD23	None	None	6015	48
C1QA	complement C1q A chain	C1q deficiency?0012958	https://raresource.nih.gov/literature/gene/C1QA	712	ENSG00000173372	1241	https://pubmed.ncbi.nlm.nih.gov/?term=C1QA	None	None	2729	329
C1QB	complement C1q B chain	C1q deficiency?0012958	https://raresource.nih.gov/literature/gene/C1QB	713	ENSG00000173369	1242	https://pubmed.ncbi.nlm.nih.gov/?term=C1QB	None	None	4654	283
C1QC	complement C1q C chain	C1q deficiency?0012958	https://raresource.nih.gov/literature/gene/C1QC	714	ENSG00000159189	1245	https://pubmed.ncbi.nlm.nih.gov/?term=C1QC	None	None	3293	181
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	243
C1R	complement C1r	Periodontal Ehlers-Danlos syndrome?0012474	https://raresource.nih.gov/literature/gene/C1R	715	ENSG00000159403	1246	https://pubmed.ncbi.nlm.nih.gov/?term=C1R	None	None	4529	900
C1S	complement C1s	Periodontal Ehlers-Danlos syndrome?0012474	https://raresource.nih.gov/literature/gene/C1S	716	ENSG00000182326	1247	https://pubmed.ncbi.nlm.nih.gov/?term=C1S	None	None	19941	1753
C2	complement C2	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	5989
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	31
C4A	complement C4A (Rodgers blood group)	Behçet disease?0000848	https://raresource.nih.gov/literature/gene/C4A	720	ENSG00000244731	1323	https://pubmed.ncbi.nlm.nih.gov/?term=C4A	None	None	2051	6921
C5	complement C5	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	6999
C8A	complement C8 alpha chain	Complement component 8 deficiency, type i?0010626	https://raresource.nih.gov/literature/gene/C8A	731	ENSG00000157131	1352	https://pubmed.ncbi.nlm.nih.gov/?term=C8A	None	None	25328	63
C8B	complement C8 beta chain	Complement component 8 deficiency, type ii?0010625	https://raresource.nih.gov/literature/gene/C8B	732	ENSG00000021852	1353	https://pubmed.ncbi.nlm.nih.gov/?term=C8B	None	None	15719	66
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	25867
CA4	carbonic anhydrase 4	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/CA4	762	ENSG00000167434	1375	https://pubmed.ncbi.nlm.nih.gov/?term=CA4	None	None	7294	547
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	431
CA8	carbonic anhydrase 8	Dysequilibrium syndrome?0001998	https://raresource.nih.gov/literature/gene/CA8	767	ENSG00000178538	1382	https://pubmed.ncbi.nlm.nih.gov/?term=CA8	None	None	35327	423
CABP4	calcium binding protein 4	Autosomal dominant nocturnal frontal lobe epilepsy?0011918;Congenital stationary night blindness?0003995	https://raresource.nih.gov/literature/gene/CABP4	57010	ENSG00000175544	1386	https://pubmed.ncbi.nlm.nih.gov/?term=CABP4	None	None	3917	50
CACNA1A	calcium voltage-gated channel subunit alpha1 A	Spinocerebellar ataxia type 6?0010351;Familial or sporadic hemiplegic migraine?0010768;Lennox-Gastaut syndrome?0009912;Alternating hemiplegia of childhood?0000011;Familial paroxysmal ataxia?0009602	https://raresource.nih.gov/literature/gene/CACNA1A	773	ENSG00000141837	1388	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1A	None	None	126690	1539
CACNA1C	calcium voltage-gated channel subunit alpha1 C	Brugada syndrome 3?0010361;Brugada syndrome?0001030;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/CACNA1C	775	ENSG00000151067	1390	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1C	None	None	165358	4953
CACNA1F	calcium voltage-gated channel subunit alpha1 F	Congenital stationary night blindness?0003995;Åland Islands eye disease?0010574;Cone rod dystrophy?0010790;Cone-rod dystrophy, x-linked, 3?0010654	https://raresource.nih.gov/literature/gene/CACNA1F	778	ENSG00000102001	1393	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1F	None	None	6848	221
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	200
CACNA1S	calcium voltage-gated channel subunit alpha1 S	Malignant hyperthermia of anesthesia?0006964;Hypokalemic periodic paralysis?0006729;Thyrotoxic periodic paralysis?0010814	https://raresource.nih.gov/literature/gene/CACNA1S	779	ENSG00000081248	1397	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1S	None	None	31250	418
CACNA2D1	calcium voltage-gated channel auxiliary subunit alpha2delta 1	Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/CACNA2D1	781	ENSG00000153956	1399	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA2D1	None	None	187845	163
CACNA2D4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	Retinal cone dystrophy 4?0010650;Cone rod dystrophy?0010790;Congenital stationary night blindness?0003995	https://raresource.nih.gov/literature/gene/CACNA2D4	93589	ENSG00000151062	20202	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA2D4	None	None	33460	84
CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	Brugada syndrome 4?0010362;Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/CACNB2	783	ENSG00000165995	1402	https://pubmed.ncbi.nlm.nih.gov/?term=CACNB2	None	None	180042	178
CACNB4	calcium voltage-gated channel auxiliary subunit beta 4	Juvenile myoclonic epilepsy?0006808	https://raresource.nih.gov/literature/gene/CACNB4	785	ENSG00000182389	1404	https://pubmed.ncbi.nlm.nih.gov/?term=CACNB4	None	None	93822	74
CACNG2	calcium voltage-gated channel auxiliary subunit gamma 2	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	219
CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	CAD-CDG?0013621	https://raresource.nih.gov/literature/gene/CAD	790	ENSG00000084774	1424	https://pubmed.ncbi.nlm.nih.gov/?term=CAD	None	None	13568	11
CALM1	calmodulin 1	Catecholaminergic polymorphic ventricular tachycardia?0004421;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/CALM1	801	ENSG00000198668	1442	https://pubmed.ncbi.nlm.nih.gov/?term=CALM1	None	None	4743	5030
CALM2	calmodulin 2	Catecholaminergic polymorphic ventricular tachycardia?0004421;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/CALM2	805	ENSG00000143933	1445	https://pubmed.ncbi.nlm.nih.gov/?term=CALM2	None	None	11849	5126
CALM3	calmodulin 3	Catecholaminergic polymorphic ventricular tachycardia?0004421;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/CALM3	808	ENSG00000160014	1449	https://pubmed.ncbi.nlm.nih.gov/?term=CALM3	None	None	3997	5114
CALR	calreticulin	Budd-Chiari syndrome?0005968;Essential thrombocythemia?0006594;Primary myelofibrosis?0008618	https://raresource.nih.gov/literature/gene/CALR	811	ENSG00000179218	1455	https://pubmed.ncbi.nlm.nih.gov/?term=CALR	None	None	3926	6576
CAMK2A	calcium/calmodulin dependent protein kinase II alpha	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/CAMK2A	815	ENSG00000070808	1460	https://pubmed.ncbi.nlm.nih.gov/?term=CAMK2A	None	None	25043	436
CAMK2B	calcium/calmodulin dependent protein kinase II beta	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	305
CANT1	calcium activated nucleotidase 1	Desbuquois syndrome?0001818	https://raresource.nih.gov/literature/gene/CANT1	124583	ENSG00000171302	19721	https://pubmed.ncbi.nlm.nih.gov/?term=CANT1	None	None	7877	62
CAP2	cyclase associated actin cytoskeleton regulatory protein 2	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/CAP2	10486	ENSG00000112186	20039	https://pubmed.ncbi.nlm.nih.gov/?term=CAP2	None	None	63143	4934
CAPN3	calpain 3	Calpain-3-related limb-girdle muscular dystrophy R1?0001057	https://raresource.nih.gov/literature/gene/CAPN3	825	ENSG00000092529	1480	https://pubmed.ncbi.nlm.nih.gov/?term=CAPN3	None	None	16092	16089
CARD11	caspase recruitment domain family member 11	BENTA disease?0013339	https://raresource.nih.gov/literature/gene/CARD11	84433	ENSG00000198286	16393	https://pubmed.ncbi.nlm.nih.gov/?term=CARD11	None	None	74401	588
CARD14	caspase recruitment domain family member 14	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	5235
CARS1	cysteinyl-tRNA synthetase 1	Inflammatory myofibroblastic tumor?0007146	https://raresource.nih.gov/literature/gene/CARS1	833	ENSG00000110619	1493	https://pubmed.ncbi.nlm.nih.gov/?term=CARS1	None	None	23020	402
CASK	calcium/calmodulin dependent serine protein kinase	X-linked intellectual disability, Najm type?0012669;Early infantile epileptic encephalopathy?0009255	https://raresource.nih.gov/literature/gene/CASK	8573	ENSG00000147044	1497	https://pubmed.ncbi.nlm.nih.gov/?term=CASK	None	None	65328	584
CASP10	caspase 10	Autoimmune lymphoproliferative syndrome?0008686	https://raresource.nih.gov/literature/gene/CASP10	843	ENSG00000003400	1500	https://pubmed.ncbi.nlm.nih.gov/?term=CASP10	None	None	18194	434
CASP8	caspase 8	Adult hepatocellular carcinoma?0006608;Autoimmune lymphoproliferative syndrome with recurrent viral infections?0009796	https://raresource.nih.gov/literature/gene/CASP8	841	ENSG00000064012	1509	https://pubmed.ncbi.nlm.nih.gov/?term=CASP8	None	None	23558	11848
CASQ1	calsequestrin 1	Tubular aggregate myopathy?0003884	https://raresource.nih.gov/literature/gene/CASQ1	844	ENSG00000143318	1512	https://pubmed.ncbi.nlm.nih.gov/?term=CASQ1	None	None	5771	164
CASQ2	calsequestrin 2	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	304
CASR	calcium sensing receptor	Hereditary chronic pancreatitis?0006632;Neonatal severe primary hyperparathyroidism?0002838;Autosomal dominant hypocalcemia?0002877;Familial hypocalciuric hypercalcemia type 1?0002796	https://raresource.nih.gov/literature/gene/CASR	846	ENSG00000036828	1514	https://pubmed.ncbi.nlm.nih.gov/?term=CASR	None	None	42845	13159
CASZ1	castor zinc finger 1	1p36 deletion syndrome?0006082	https://raresource.nih.gov/literature/gene/CASZ1	54897	ENSG00000130940	26002	https://pubmed.ncbi.nlm.nih.gov/?term=CASZ1	None	None	66052	589
CAT	catalase	Acatalasemia?0000363	https://raresource.nih.gov/literature/gene/CAT	847	ENSG00000121691	1516	https://pubmed.ncbi.nlm.nih.gov/?term=CAT	None	None	13065	84314
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	57
CAV1	caveolin 1	Diffuse cutaneous systemic sclerosis?0009751;Lipodystrophy, congenital generalized, type 3?0013389;Congenital generalized lipodystrophy?0013388;Limited cutaneous systemic sclerosis?0001053	https://raresource.nih.gov/literature/gene/CAV1	857	ENSG00000105974	1527	https://pubmed.ncbi.nlm.nih.gov/?term=CAV1	None	None	15910	7938
CAV3	caveolin 3	Rippling muscle disease?0009164;Long qt syndrome 9?0010435;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/CAV3	859	ENSG00000182533	1529	https://pubmed.ncbi.nlm.nih.gov/?term=CAV3	None	None	32951	1658
CAVIN1	caveolae associated protein 1	Congenital generalized lipodystrophy?0013388;Lipodystrophy, congenital generalized, type 4?0010937	https://raresource.nih.gov/literature/gene/CAVIN1	284119	ENSG00000177469	9688	https://pubmed.ncbi.nlm.nih.gov/?term=CAVIN1	None	None	8724	325
CBFB	core-binding factor subunit beta	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)?0000536	https://raresource.nih.gov/literature/gene/CBFB	865	ENSG00000067955	1539	https://pubmed.ncbi.nlm.nih.gov/?term=CBFB	None	None	27133	579
CBL	Cbl proto-oncogene	Juvenile myelomonocytic leukemia?0009884;Noonan syndrome?0010955	https://raresource.nih.gov/literature/gene/CBL	867	ENSG00000110395	1541	https://pubmed.ncbi.nlm.nih.gov/?term=CBL	None	None	36907	759
CBLIF	cobalamin binding intrinsic factor	Congenital 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	4763
CBS	cystathionine beta-synthase	Classic homocystinuria?0006667	https://raresource.nih.gov/literature/gene/CBS	875	ENSG00000160200	1550	https://pubmed.ncbi.nlm.nih.gov/?term=CBS	None	None	4884	2603
CBX2	chromobox 2	46,XY complete gonadal dysgenesis?0005068	https://raresource.nih.gov/literature/gene/CBX2	84733	ENSG00000173894	1552	https://pubmed.ncbi.nlm.nih.gov/?term=CBX2	None	None	4969	247
CBY1	chibby family member 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	74
CC2D2A	coiled-coil and C2 domain containing 2A	Meckel syndrome?0003436;Joubert syndrome with oculorenal defect?0009455;Joubert syndrome with hepatic defect?0001410	https://raresource.nih.gov/literature/gene/CC2D2A	57545	ENSG00000048342	29253	https://pubmed.ncbi.nlm.nih.gov/?term=CC2D2A	None	None	46986	83
CCAL1	Chondrocalcinosis 1	Chondrocalcinosis 1?0006048	https://raresource.nih.gov/literature/gene/CCAL1	882			https://pubmed.ncbi.nlm.nih.gov/?term=CCAL1	None	None	None	5
CCBE1	collagen and calcium binding EGF domains 1	Hennekam syndrome?0003318	https://raresource.nih.gov/literature/gene/CCBE1	147372	ENSG00000183287	29426	https://pubmed.ncbi.nlm.nih.gov/?term=CCBE1	None	None	79264	96
CCDC103	coiled-coil domain containing 103	Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/CCDC103	388389	ENSG00000167131	32700	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC103	None	None	None	33
CCDC141	coiled-coil domain containing 141	Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/CCDC141	285025	ENSG00000163492	26821	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC141	None	None	85228	30
CCDC22	coiled-coil domain containing 22	3C syndrome?0005666	https://raresource.nih.gov/literature/gene/CCDC22	28952	ENSG00000101997	28909	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC22	None	None	3219	40
CCDC28B	coiled-coil domain containing 28B	Bardet-biedl syndrome 1?0000820	https://raresource.nih.gov/literature/gene/CCDC28B	79140	ENSG00000160050	28163	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC28B	None	None	2690	13
CCDC39	coiled-coil domain containing 39	Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/CCDC39	339829	ENSG00000284862	25244	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC39	None	None	88154	76
CCDC40	coiled-coil domain containing 40	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	58
CCDC6	coiled-coil domain containing 6	Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/CCDC6	8030	ENSG00000108091	18782	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC6	None	None	45616	4429
CCDC65	coiled-coil domain containing 65	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	19
CCDC8	coiled-coil domain containing 8	3M syndrome?0005667	https://raresource.nih.gov/literature/gene/CCDC8	83987	ENSG00000169515	25367	https://pubmed.ncbi.nlm.nih.gov/?term=CCDC8	None	None	3112	357
CCDC88C	coiled-coil domain containing 88C	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	79
CCM2	CCM2 scaffold protein	Familial cerebral cavernous malformation?0013641	https://raresource.nih.gov/literature/gene/CCM2	83605	ENSG00000136280	21708	https://pubmed.ncbi.nlm.nih.gov/?term=CCM2	None	None	31231	1543
CCN2	cellular communication network factor 2	Diffuse cutaneous systemic sclerosis?0009751;Limited cutaneous systemic sclerosis?0001053	https://raresource.nih.gov/literature/gene/CCN2	1490	ENSG00000118523	2500	https://pubmed.ncbi.nlm.nih.gov/?term=CCN2	None	None	2859	6260
CCN6	cellular communication network factor 6	Progressive pseudorheumatoid arthropathy of childhood?0009184	https://raresource.nih.gov/literature/gene/CCN6	8838	ENSG00000112761	12771	https://pubmed.ncbi.nlm.nih.gov/?term=CCN6	None	None	6881	868
CCND1	cyclin D1	B-cell chronic lymphocytic leukemia?0006104;Von Hippel-Lindau disease?0007855;Mantle cell lymphoma?0006969;Multiple myeloma?0007108	https://raresource.nih.gov/literature/gene/CCND1	595	ENSG00000110092	1582	https://pubmed.ncbi.nlm.nih.gov/?term=CCND1	None	None	6240	23823
CCND2	cyclin D2	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?0010341	https://raresource.nih.gov/literature/gene/CCND2	894	ENSG00000118971	1583	https://pubmed.ncbi.nlm.nih.gov/?term=CCND2	None	None	11164	1916
CCNF	cyclin F	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/CCNF	899	ENSG00000162063	1591	https://pubmed.ncbi.nlm.nih.gov/?term=CCNF	None	None	13752	165
CCNO	cyclin O	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	45
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	39
CCR1	C-C motif chemokine receptor 1	Behçet disease?0000848	https://raresource.nih.gov/literature/gene/CCR1	1230	ENSG00000163823	1602	https://pubmed.ncbi.nlm.nih.gov/?term=CCR1	None	None	1851	1755
CCR6	C-C motif chemokine receptor 6	Diffuse cutaneous systemic sclerosis?0009751;Limited cutaneous systemic sclerosis?0001053	https://raresource.nih.gov/literature/gene/CCR6	1235	ENSG00000112486	1607	https://pubmed.ncbi.nlm.nih.gov/?term=CCR6	None	None	12212	2300
CD109	CD109 molecule	Fetal and neonatal alloimmune thrombocytopenia?0002295	https://raresource.nih.gov/literature/gene/CD109	135228	ENSG00000156535	21685	https://pubmed.ncbi.nlm.nih.gov/?term=CD109	None	None	49022	359
CD19	CD19 molecule	Common variable immunodeficiency?0006140	https://raresource.nih.gov/literature/gene/CD19	930	ENSG00000177455	1633	https://pubmed.ncbi.nlm.nih.gov/?term=CD19	None	None	3574	11864
CD247	CD247 molecule	Oligoarticular juvenile idiopathic arthritis?0004261;Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis?0003931	https://raresource.nih.gov/literature/gene/CD247	919	ENSG00000198821	1677	https://pubmed.ncbi.nlm.nih.gov/?term=CD247	None	None	34778	828
CD28	CD28 molecule	Classic mycosis fungoides?0003863;Sézary syndrome?0007629	https://raresource.nih.gov/literature/gene/CD28	940	ENSG00000178562	1653	https://pubmed.ncbi.nlm.nih.gov/?term=CD28	None	None	12827	12508
CD2AP	CD2 associated protein	Genetic 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	576
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	23
CD40LG	CD40 ligand	X-linked hyper-IgM syndrome?0000073	https://raresource.nih.gov/literature/gene/CD40LG	959	ENSG00000102245	11935	https://pubmed.ncbi.nlm.nih.gov/?term=CD40LG	None	None	2699	15
CD46	CD46 molecule	HELLP syndrome?0008528	https://raresource.nih.gov/literature/gene/CD46	4179	ENSG00000117335	6953	https://pubmed.ncbi.nlm.nih.gov/?term=CD46	None	None	16885	3183
CD79A	CD79a molecule	Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/CD79A	973	ENSG00000105369	1698	https://pubmed.ncbi.nlm.nih.gov/?term=CD79A	None	None	2517	45507
CD79B	CD79b molecule	Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/CD79B	974	ENSG00000007312	1699	https://pubmed.ncbi.nlm.nih.gov/?term=CD79B	None	None	2442	915
CD81	CD81 molecule	Common variable immunodeficiency?0006140	https://raresource.nih.gov/literature/gene/CD81	975	ENSG00000110651	1701	https://pubmed.ncbi.nlm.nih.gov/?term=CD81	None	None	9852	2134
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	733
CDAN1	codanin 1	Congenital dyserythropoietic anemia type I?0002000	https://raresource.nih.gov/literature/gene/CDAN1	146059	ENSG00000140326	1713	https://pubmed.ncbi.nlm.nih.gov/?term=CDAN1	None	None	5795	204
CDC45	cell division cycle 45	Ear-patella-short stature syndrome?0002033	https://raresource.nih.gov/literature/gene/CDC45	8318	ENSG00000093009	1739	https://pubmed.ncbi.nlm.nih.gov/?term=CDC45	None	None	14161	573
CDC6	cell division cycle 6	Ear-patella-short stature syndrome?0002033	https://raresource.nih.gov/literature/gene/CDC6	990	ENSG00000094804	1744	https://pubmed.ncbi.nlm.nih.gov/?term=CDC6	None	None	5542	964
CDC73	cell division cycle 73	Hyperparathyroidism-jaw tumor syndrome?0010829;Parathyroid carcinoma?0007329	https://raresource.nih.gov/literature/gene/CDC73	79577	ENSG00000134371	16783	https://pubmed.ncbi.nlm.nih.gov/?term=CDC73	None	None	62227	526
CDCA7	cell division cycle associated 7	ICF syndrome?0002945	https://raresource.nih.gov/literature/gene/CDCA7	83879	ENSG00000144354	14628	https://pubmed.ncbi.nlm.nih.gov/?term=CDCA7	None	None	6991	97
CDH1	cadherin 1	Blepharo-cheilo-odontic syndrome?0002071;Familial prostate cancer?0004520;Hereditary diffuse gastric cancer?0010900	https://raresource.nih.gov/literature/gene/CDH1	999	ENSG00000039068	1748	https://pubmed.ncbi.nlm.nih.gov/?term=CDH1	None	None	40823	4558
CDH11	cadherin 11	Branchioskeletogenital syndrome?0000955	https://raresource.nih.gov/literature/gene/CDH11	1009	ENSG00000140937	1750	https://pubmed.ncbi.nlm.nih.gov/?term=CDH11	None	None	64384	991
CDH15	cadherin 15	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	820
CDH23	cadherin related 23	Prolactinoma?0004508;Usher syndrome type 1?0005435;Cushing disease?0012867;Familial isolated pituitary adenoma?0010959	https://raresource.nih.gov/literature/gene/CDH23	64072	ENSG00000107736	13733	https://pubmed.ncbi.nlm.nih.gov/?term=CDH23	None	None	162801	446
CDH3	cadherin 3	Hypotrichosis with juvenile macular degeneration?0003066;EEM syndrome?0002078	https://raresource.nih.gov/literature/gene/CDH3	1001	ENSG00000062038	1762	https://pubmed.ncbi.nlm.nih.gov/?term=CDH3	None	None	19552	259
CDHR1	cadherin related family member 1	Retinitis pigmentosa?0005694;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	68
CDIN1	CDAN1 interacting nuclease 1	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	22
CDK4	cyclin dependent kinase 4	Familial melanoma?0003460	https://raresource.nih.gov/literature/gene/CDK4	1019	ENSG00000135446	1773	https://pubmed.ncbi.nlm.nih.gov/?term=CDK4	None	None	2944	10627
CDK5RAP2	CDK5 regulatory subunit associated protein 2	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	214
CDK6	cyclin dependent kinase 6	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	3226
CDKL5	cyclin dependent kinase like 5	Atypical Rett syndrome?0004694;Infantile spasms syndrome?0007887;Early infantile epileptic encephalopathy?0009255;CDKL5-deficiency disorder?0012173	https://raresource.nih.gov/literature/gene/CDKL5	6792	ENSG00000008086	11411	https://pubmed.ncbi.nlm.nih.gov/?term=CDKL5	None	None	39845	573
CDKN1A	cyclin dependent kinase inhibitor 1A	Multiple endocrine neoplasia type 1?0003829	https://raresource.nih.gov/literature/gene/CDKN1A	1026	ENSG00000124762	1784	https://pubmed.ncbi.nlm.nih.gov/?term=CDKN1A	None	None	6404	29161
CDKN1B	cyclin dependent kinase inhibitor 1B	Multiple endocrine neoplasia type 1?0003829	https://raresource.nih.gov/literature/gene/CDKN1B	1027	ENSG00000111276	1785	https://pubmed.ncbi.nlm.nih.gov/?term=CDKN1B	None	None	3730	6469
CDKN1C	cyclin dependent kinase inhibitor 1C	IMAGe syndrome?0012312	https://raresource.nih.gov/literature/gene/CDKN1C	1028	ENSG00000129757	1786	https://pubmed.ncbi.nlm.nih.gov/?term=CDKN1C	None	None	3469	1894
CDKN2A	cyclin dependent kinase inhibitor 2A	Melanoma and neural system tumor syndrome?0008468;Familial atypical multiple mole melanoma syndrome?0009281;Li-Fraumeni syndrome?0006902;Familial melanoma?0003460;Familial pancreatic carcinoma?0004206	https://raresource.nih.gov/literature/gene/CDKN2A	1029	ENSG00000147889	1787	https://pubmed.ncbi.nlm.nih.gov/?term=CDKN2A	None	None	17172	26715
CDKN2B	cyclin dependent kinase inhibitor 2B	Familial melanoma?0003460;Multiple endocrine neoplasia type 1?0003829	https://raresource.nih.gov/literature/gene/CDKN2B	1030	ENSG00000147883	1788	https://pubmed.ncbi.nlm.nih.gov/?term=CDKN2B	None	None	3941	3375
CDKN2C	cyclin dependent kinase inhibitor 2C	Multiple endocrine neoplasia type 1?0003829	https://raresource.nih.gov/literature/gene/CDKN2C	1031	ENSG00000123080	1789	https://pubmed.ncbi.nlm.nih.gov/?term=CDKN2C	None	None	5393	953
CDON	cell adhesion associated, oncogene regulated	Pituitary stalk interruption syndrome?0013209	https://raresource.nih.gov/literature/gene/CDON	50937	ENSG00000064309	17104	https://pubmed.ncbi.nlm.nih.gov/?term=CDON	None	None	27053	335
CDT1	chromatin licensing and DNA replication factor 1	Ear-patella-short stature syndrome?0002033	https://raresource.nih.gov/literature/gene/CDT1	81620	ENSG00000167513	24576	https://pubmed.ncbi.nlm.nih.gov/?term=CDT1	None	None	3370	596
CEACAM3	CEA cell adhesion molecule 3	Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/CEACAM3	1084	ENSG00000170956	1815	https://pubmed.ncbi.nlm.nih.gov/?term=CEACAM3	None	None	6798	13458
CEACAM6	CEA cell adhesion molecule 6	Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/CEACAM6	4680	ENSG00000086548	1818	https://pubmed.ncbi.nlm.nih.gov/?term=CEACAM6	None	None	6630	638
CEBPE	CCAAT enhancer binding protein epsilon	Recurrent infection due to specific granule deficiency?0010778	https://raresource.nih.gov/literature/gene/CEBPE	1053	ENSG00000092067	1836	https://pubmed.ncbi.nlm.nih.gov/?term=CEBPE	None	None	2116	801
CEL	carboxyl ester lipase	MODY?0003697	https://raresource.nih.gov/literature/gene/CEL	1056	ENSG00000170835	1848	https://pubmed.ncbi.nlm.nih.gov/?term=CEL	None	None	6398	6086
CENPE	centromere protein E	Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/CENPE	1062	ENSG00000138778	1856	https://pubmed.ncbi.nlm.nih.gov/?term=CENPE	None	None	36758	448
CENPJ	centromere protein J	Seckel syndrome?0008562;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/CENPJ	55835	ENSG00000151849	17272	https://pubmed.ncbi.nlm.nih.gov/?term=CENPJ	None	None	11088	2058
CEP104	centrosomal protein 104	Joubert syndrome?0006802	https://raresource.nih.gov/literature/gene/CEP104	9731	ENSG00000116198	24866	https://pubmed.ncbi.nlm.nih.gov/?term=CEP104	None	None	18733	28
CEP120	centrosomal protein 120	Jeune syndrome?0003049;Joubert syndrome?0006802;Joubert syndrome with ocular defect?0010168	https://raresource.nih.gov/literature/gene/CEP120	153241	ENSG00000168944	26690	https://pubmed.ncbi.nlm.nih.gov/?term=CEP120	None	None	30808	44
CEP126	centrosomal protein 126	Monomelic amyotrophy?0009697	https://raresource.nih.gov/literature/gene/CEP126	57562	ENSG00000110318	29264	https://pubmed.ncbi.nlm.nih.gov/?term=CEP126	None	None	27016	9
CEP135	centrosomal protein 135	Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/CEP135	9662	ENSG00000174799	29086	https://pubmed.ncbi.nlm.nih.gov/?term=CEP135	None	None	30282	80
CEP152	centrosomal protein 152	Seckel syndrome?0008562;Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/CEP152	22995	ENSG00000103995	29298	https://pubmed.ncbi.nlm.nih.gov/?term=CEP152	None	None	17614	98
CEP164	centrosomal protein 164	Senior-Loken syndrome?0000322	https://raresource.nih.gov/literature/gene/CEP164	22897	ENSG00000110274	29182	https://pubmed.ncbi.nlm.nih.gov/?term=CEP164	None	None	22055	80
CEP19	centrosomal protein 19	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	16
CEP290	centrosomal protein 290	Meckel syndrome?0003436;Bardet-Biedl syndrome?0006866;Leber congenital amaurosis?0000634;Senior-Loken syndrome?0000322;Joubert syndrome with oculorenal defect?0009455	https://raresource.nih.gov/literature/gene/CEP290	80184	ENSG00000198707	29021	https://pubmed.ncbi.nlm.nih.gov/?term=CEP290	None	None	23277	361
CEP41	centrosomal protein 41	Joubert syndrome with ocular defect?0010168;Joubert syndrome?0006802	https://raresource.nih.gov/literature/gene/CEP41	95681	ENSG00000106477	12370	https://pubmed.ncbi.nlm.nih.gov/?term=CEP41	None	None	18111	20
CEP57	centrosomal protein 57	Mosaic variegated aneuploidy syndrome?0003007	https://raresource.nih.gov/literature/gene/CEP57	9702	ENSG00000166037	30794	https://pubmed.ncbi.nlm.nih.gov/?term=CEP57	None	None	11578	67
CEP63	centrosomal protein 63	Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/CEP63	80254	ENSG00000182923	25815	https://pubmed.ncbi.nlm.nih.gov/?term=CEP63	None	None	32340	44
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	30
CERKL	ceramide kinase like	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/CERKL	375298	ENSG00000188452	21699	https://pubmed.ncbi.nlm.nih.gov/?term=CERKL	None	None	50023	92
CERS3	ceramide synthase 3	Congenital non-bullous ichthyosiform erythroderma?0009736	https://raresource.nih.gov/literature/gene/CERS3	204219	ENSG00000154227	23752	https://pubmed.ncbi.nlm.nih.gov/?term=CERS3	None	None	40992	75
CFAP221	cilia and flagella associated protein 221	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	17
CFAP298	cilia and flagella associated protein 298	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	54
CFAP300	cilia and flagella associated protein 300	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	8
CFAP410	cilia and flagella associated protein 410	Cone rod dystrophy?0010790;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/CFAP410	755	ENSG00000160226	1260	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP410	None	None	5724	36
CFAP418	cilia and flagella associated protein 418	Bardet-Biedl syndrome?0006866;Retinitis pigmentosa?0005694;Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/CFAP418	157657	ENSG00000156172	27232	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP418	None	None	None	18
CFAP47	cilia and flagella associated protein 47	Male infertility due to large-headed multiflagellar polyploid spermatozoa?0012385	https://raresource.nih.gov/literature/gene/CFAP47	286464	ENSG00000165164	26708	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP47	None	None	104511	9
CFAP52	cilia and flagella associated protein 52	Situs inversus totalis?0004883	https://raresource.nih.gov/literature/gene/CFAP52	146845	ENSG00000166596	16053	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP52	None	None	24435	17
CFAP53	cilia and flagella associated protein 53	Situs inversus totalis?0004883	https://raresource.nih.gov/literature/gene/CFAP53	220136	ENSG00000172361	26530	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP53	None	None	10718	17
CFH	complement factor H	HELLP syndrome?0008528;Dense deposit disease?0008555;Familial drusen?0001912	https://raresource.nih.gov/literature/gene/CFH	3075	ENSG00000000971	4883	https://pubmed.ncbi.nlm.nih.gov/?term=CFH	None	None	42166	5274
CFHR1	complement factor H related 1	Dense deposit disease?0008555	https://raresource.nih.gov/literature/gene/CFHR1	3078	ENSG00000244414	4888	https://pubmed.ncbi.nlm.nih.gov/?term=CFHR1	None	None	6868	453
CFI	complement factor I	HELLP syndrome?0008528;Familial drusen?0001912	https://raresource.nih.gov/literature/gene/CFI	3426	ENSG00000205403	5394	https://pubmed.ncbi.nlm.nih.gov/?term=CFI	None	None	310	2036
CFL2	cofilin 2	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	139
CFP	complement factor properdin	Properdin deficiency?0004513	https://raresource.nih.gov/literature/gene/CFP	5199	ENSG00000126759	8864	https://pubmed.ncbi.nlm.nih.gov/?term=CFP	None	None	2202	3157
CFTR	CF transmembrane conductance regulator	Cystic fibrosis?0006233;Hereditary chronic pancreatitis?0006632;Congenital bilateral absence of vas deferens?0005461;Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530;Aquagenic palmoplantar keratoderma?0012991	https://raresource.nih.gov/literature/gene/CFTR	1080	ENSG00000001626	1884	https://pubmed.ncbi.nlm.nih.gov/?term=CFTR	None	None	81603	12882
CHAMP1	chromosome alignment maintaining phosphoprotein 1	Autosomal dominant non-syndromic intellectual disability?0012107;Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features?0013539	https://raresource.nih.gov/literature/gene/CHAMP1	283489	ENSG00000198824	20311	https://pubmed.ncbi.nlm.nih.gov/?term=CHAMP1	None	None	6827	1761
CHCHD10	coiled-coil-helix-coiled-coil-helix domain containing 10	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/CHCHD10	400916	ENSG00000250479	15559	https://pubmed.ncbi.nlm.nih.gov/?term=CHCHD10	None	None	1444	144
CHD2	chromodomain helicase DNA binding protein 2	Lennox-Gastaut syndrome?0009912;Myoclonic-astatic epilepsy?0002169;Developmental and epileptic encephalopathy 94?0013197	https://raresource.nih.gov/literature/gene/CHD2	1106	ENSG00000173575	1917	https://pubmed.ncbi.nlm.nih.gov/?term=CHD2	None	None	38150	166
CHD7	chromodomain helicase DNA binding protein 7	CHARGE syndrome?0000029;Hypogonadotropic hypogonadism 5 with or without anosmia?0010773;Omenn syndrome?0008198;Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/CHD7	55636	ENSG00000171316	20626	https://pubmed.ncbi.nlm.nih.gov/?term=CHD7	None	None	73906	696
CHEK2	checkpoint kinase 2	Familial prostate cancer?0004520;Li-Fraumeni syndrome?0006902;Osteosarcoma?0007284	https://raresource.nih.gov/literature/gene/CHEK2	11200	ENSG00000183765	16627	https://pubmed.ncbi.nlm.nih.gov/?term=CHEK2	None	None	21329	4293
CHKB	choline kinase beta	Megaconial congenital muscular dystrophy?0010317	https://raresource.nih.gov/literature/gene/CHKB	1120	ENSG00000100288	1938	https://pubmed.ncbi.nlm.nih.gov/?term=CHKB	None	None	5949	67
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	404
CHMP2B	charged multivesicular body protein 2B	Behavioral variant of frontotemporal dementia?0007392;Progressive non-fluent aphasia?0010793;Semantic dementia?0010792;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	1214
CHN1	chimerin 1	Duane retraction syndrome?0006288	https://raresource.nih.gov/literature/gene/CHN1	1123	ENSG00000128656	1943	https://pubmed.ncbi.nlm.nih.gov/?term=CHN1	None	None	76266	866
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	344
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	515
CHRNA1	cholinergic receptor nicotinic alpha 1 subunit	Lethal multiple pterygium syndrome?0003834	https://raresource.nih.gov/literature/gene/CHRNA1	1134	ENSG00000138435	1955	https://pubmed.ncbi.nlm.nih.gov/?term=CHRNA1	None	None	15997	245
CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	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	97
CHRNA4	cholinergic receptor nicotinic alpha 4 subunit	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	4990
CHRNA7	cholinergic receptor nicotinic alpha 7 subunit	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	394
CHRNB1	cholinergic receptor nicotinic beta 1 subunit	Myasthenic syndrome, congenital, 2a, slow-channel?0009895	https://raresource.nih.gov/literature/gene/CHRNB1	1140	ENSG00000170175	1961	https://pubmed.ncbi.nlm.nih.gov/?term=CHRNB1	None	None	4428	7863
CHRNB2	cholinergic receptor nicotinic beta 2 subunit	Autosomal dominant nocturnal frontal lobe epilepsy?0011918	https://raresource.nih.gov/literature/gene/CHRNB2	1141	ENSG00000160716	1962	https://pubmed.ncbi.nlm.nih.gov/?term=CHRNB2	None	None	5316	157
CHRND	cholinergic receptor nicotinic delta subunit	Lethal multiple pterygium syndrome?0003834	https://raresource.nih.gov/literature/gene/CHRND	1144	ENSG00000135902	1965	https://pubmed.ncbi.nlm.nih.gov/?term=CHRND	None	None	5125	63
CHRNE	cholinergic receptor nicotinic epsilon subunit	Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency?0010108	https://raresource.nih.gov/literature/gene/CHRNE	1145	ENSG00000108556	1966	https://pubmed.ncbi.nlm.nih.gov/?term=CHRNE	None	None	12504	113
CHRNG	cholinergic receptor nicotinic gamma subunit	Autosomal recessive multiple pterygium syndrome?0007111;Lethal multiple pterygium syndrome?0003834	https://raresource.nih.gov/literature/gene/CHRNG	1146	ENSG00000196811	1967	https://pubmed.ncbi.nlm.nih.gov/?term=CHRNG	None	None	4690	71
CHST14	carbohydrate sulfotransferase 14	Musculocontractural Ehlers-Danlos syndrome?0008486	https://raresource.nih.gov/literature/gene/CHST14	113189	ENSG00000169105	24464	https://pubmed.ncbi.nlm.nih.gov/?term=CHST14	None	None	2598	67
CHST3	carbohydrate sulfotransferase 3	CHST3-related skeletal dysplasia?0013169	https://raresource.nih.gov/literature/gene/CHST3	9469	ENSG00000122863	1971	https://pubmed.ncbi.nlm.nih.gov/?term=CHST3	None	None	18739	388
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	88
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	90
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	3668
CIB2	calcium and integrin binding family member 2	Usher syndrome type 1?0005435	https://raresource.nih.gov/literature/gene/CIB2	10518	ENSG00000136425	24579	https://pubmed.ncbi.nlm.nih.gov/?term=CIB2	None	None	7301	2
CIC	capicua transcriptional repressor	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	715
CIITA	class II major histocompatibility complex transactivator	Immunodeficiency by defective expression of MHC class II?0000824	https://raresource.nih.gov/literature/gene/CIITA	4261	ENSG00000179583	7067	https://pubmed.ncbi.nlm.nih.gov/?term=CIITA	None	None	16878	303
CILK1	ciliogenesis associated kinase 1	Juvenile myoclonic epilepsy?0006808	https://raresource.nih.gov/literature/gene/CILK1	22858	ENSG00000112144	21219	https://pubmed.ncbi.nlm.nih.gov/?term=CILK1	None	None	None	2354
CISD2	CDGSH iron sulfur domain 2	Wolfram syndrome?0007898	https://raresource.nih.gov/literature/gene/CISD2	493856	ENSG00000145354	24212	https://pubmed.ncbi.nlm.nih.gov/?term=CISD2	None	None	5656	207
CIT	citron rho-interacting serine/threonine kinase	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	484
CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	Situs inversus totalis?0004883;Atrial septal defect, sinus venosus type?0010696;Tetralogy of Fallot?0002245;Atrial septal defect, ostium secundum type?0005865	https://raresource.nih.gov/literature/gene/CITED2	10370	ENSG00000164442	1987	https://pubmed.ncbi.nlm.nih.gov/?term=CITED2	None	None	3508	321
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	37
CLCA4	chloride channel accessory 4	Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/CLCA4	22802	ENSG00000016602	2018	https://pubmed.ncbi.nlm.nih.gov/?term=CLCA4	None	None	13328	115
CLCF1	cardiotrophin like cytokine factor 1	Crisponi syndrome?0001611	https://raresource.nih.gov/literature/gene/CLCF1	23529	ENSG00000175505	17412	https://pubmed.ncbi.nlm.nih.gov/?term=CLCF1	None	None	4127	525
CLCN1	chloride voltage-gated channel 1	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	470
CLCN2	chloride voltage-gated channel 2	Familial hyperaldosteronism type II?0002789;Juvenile myoclonic epilepsy?0006808	https://raresource.nih.gov/literature/gene/CLCN2	1181	ENSG00000114859	2020	https://pubmed.ncbi.nlm.nih.gov/?term=CLCN2	None	None	6589	468
CLCN7	chloride voltage-gated channel 7	Albers-Schönberg osteopetrosis?0000383;Intermediate osteopetrosis?0004156	https://raresource.nih.gov/literature/gene/CLCN7	1186	ENSG00000103249	2025	https://pubmed.ncbi.nlm.nih.gov/?term=CLCN7	None	None	12766	322
CLCNKA	chloride voltage-gated channel Ka	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	114
CLCNKB	chloride voltage-gated channel Kb	Bartter syndrome type 4?0010508;Gitelman syndrome?0008547;Bartter syndrome type 3?0009659	https://raresource.nih.gov/literature/gene/CLCNKB	1188	ENSG00000184908	2027	https://pubmed.ncbi.nlm.nih.gov/?term=CLCNKB	None	None	7671	251
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	3459
CLDN16	claudin 16	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement?0002906	https://raresource.nih.gov/literature/gene/CLDN16	10686	ENSG00000113946	2037	https://pubmed.ncbi.nlm.nih.gov/?term=CLDN16	None	None	34170	214
CLDN19	claudin 19	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement?0003451	https://raresource.nih.gov/literature/gene/CLDN19	149461	ENSG00000164007	2040	https://pubmed.ncbi.nlm.nih.gov/?term=CLDN19	None	None	4357	124
CLEC7A	C-type lectin domain containing 7A	Chronic mucocutaneous candidiasis?0001077	https://raresource.nih.gov/literature/gene/CLEC7A	64581	ENSG00000172243	14558	https://pubmed.ncbi.nlm.nih.gov/?term=CLEC7A	None	None	5129	1520
CLIP2	CAP-Gly domain containing linker protein 2	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/CLIP2	7461	ENSG00000106665	2586	https://pubmed.ncbi.nlm.nih.gov/?term=CLIP2	None	None	49748	429
CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	CLN3 disease?0005897	https://raresource.nih.gov/literature/gene/CLN3	1201	ENSG00000188603	2074	https://pubmed.ncbi.nlm.nih.gov/?term=CLN3	None	None	9229	753
CLN5	CLN5 intracellular trafficking protein	CLN5 disease?0001223	https://raresource.nih.gov/literature/gene/CLN5	1203	ENSG00000102805	2076	https://pubmed.ncbi.nlm.nih.gov/?term=CLN5	None	None	4363	175
CLN6	CLN6 transmembrane ER protein	CLN6 disease?0001224	https://raresource.nih.gov/literature/gene/CLN6	54982	ENSG00000128973	2077	https://pubmed.ncbi.nlm.nih.gov/?term=CLN6	None	None	14547	177
CLN8	CLN8 transmembrane ER and ERGIC protein	Progressive epilepsy-intellectual disability syndrome, Finnish type?0004010	https://raresource.nih.gov/literature/gene/CLN8	2055	ENSG00000182372	2079	https://pubmed.ncbi.nlm.nih.gov/?term=CLN8	None	None	24002	140
CLPB	caseinolytic mitochondrial matrix peptidase chaperone subunit B	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	669
CLPP	caseinolytic mitochondrial matrix peptidase proteolytic subunit	Perrault syndrome?0002542	https://raresource.nih.gov/literature/gene/CLPP	8192	ENSG00000125656	2084	https://pubmed.ncbi.nlm.nih.gov/?term=CLPP	None	None	3652	1295
CLRN1	clarin 1	Retinitis pigmentosa?0005694;Usher syndrome type 3?0005442	https://raresource.nih.gov/literature/gene/CLRN1	7401	ENSG00000163646	12605	https://pubmed.ncbi.nlm.nih.gov/?term=CLRN1	None	None	19528	1018
CLTC	clathrin heavy chain	Autosomal dominant non-syndromic intellectual disability?0012107;Inflammatory myofibroblastic tumor?0007146	https://raresource.nih.gov/literature/gene/CLTC	1213	ENSG00000141367	2092	https://pubmed.ncbi.nlm.nih.gov/?term=CLTC	None	None	24627	1386
CLTRN	collectrin, amino acid transport regulator	Hartnup disease?0006569	https://raresource.nih.gov/literature/gene/CLTRN	57393	ENSG00000147003	29437	https://pubmed.ncbi.nlm.nih.gov/?term=CLTRN	None	None	8750	82
CNBP	CCHC-type zinc finger nucleic acid binding protein	Proximal myotonic myopathy?0009728	https://raresource.nih.gov/literature/gene/CNBP	7555	ENSG00000169714	13164	https://pubmed.ncbi.nlm.nih.gov/?term=CNBP	None	None	9606	913
CNGA1	cyclic nucleotide gated channel subunit alpha 1	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/CNGA1	1259	ENSG00000198515	2148	https://pubmed.ncbi.nlm.nih.gov/?term=CNGA1	None	None	29885	170
CNGA2	cyclic nucleotide gated channel subunit alpha 2	Isolated congenital anosmia?0009486	https://raresource.nih.gov/literature/gene/CNGA2	1260	ENSG00000183862	2149	https://pubmed.ncbi.nlm.nih.gov/?term=CNGA2	None	None	3242	100
CNGA3	cyclic nucleotide gated channel subunit alpha 3	Achromatopsia 2?0009649;Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/CNGA3	1261	ENSG00000144191	2150	https://pubmed.ncbi.nlm.nih.gov/?term=CNGA3	None	None	22146	266
CNGB1	cyclic nucleotide gated channel subunit beta 1	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/CNGB1	1258	ENSG00000070729	2151	https://pubmed.ncbi.nlm.nih.gov/?term=CNGB1	None	None	24023	553
CNGB3	cyclic nucleotide gated channel subunit beta 3	Progressive cone dystrophy?0011897;Stargardt disease?0000181;Achromatopsia 3?0009650	https://raresource.nih.gov/literature/gene/CNGB3	54714	ENSG00000170289	2153	https://pubmed.ncbi.nlm.nih.gov/?term=CNGB3	None	None	64515	174
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	62
CNPY3	canopy FGF signaling regulator 3	Infantile spasms syndrome?0007887	https://raresource.nih.gov/literature/gene/CNPY3	10695	ENSG00000137161	11968	https://pubmed.ncbi.nlm.nih.gov/?term=CNPY3	None	None	5299	41706
COA3	cytochrome c oxidase assembly factor 3	Isolated cytochrome C oxidase deficiency?0000048	https://raresource.nih.gov/literature/gene/COA3	28958	ENSG00000183978	24990	https://pubmed.ncbi.nlm.nih.gov/?term=COA3	None	None	446	23
COASY	Coenzyme A synthase	COASY protein-associated neurodegeneration?0012571	https://raresource.nih.gov/literature/gene/COASY	80347	ENSG00000068120	29932	https://pubmed.ncbi.nlm.nih.gov/?term=COASY	None	None	2084	219
COD2	Cone dystrophy-2, X-linked	Cone-rod dystrophy, x-linked, 2?0001462	https://raresource.nih.gov/literature/gene/COD2	1275			https://pubmed.ncbi.nlm.nih.gov/?term=COD2	None	None	None	5
COG1	component of oligomeric golgi complex 1	COG1-CDG?0010226	https://raresource.nih.gov/literature/gene/COG1	9382	ENSG00000166685	6545	https://pubmed.ncbi.nlm.nih.gov/?term=COG1	None	None	5702	61
COG4	component of oligomeric golgi complex 4	COG4-CDG?0012412	https://raresource.nih.gov/literature/gene/COG4	25839	ENSG00000103051	18620	https://pubmed.ncbi.nlm.nih.gov/?term=COG4	None	None	14197	51
COG5	component of oligomeric golgi complex 5	COG5-CDG?0012348	https://raresource.nih.gov/literature/gene/COG5	10466	ENSG00000164597	14857	https://pubmed.ncbi.nlm.nih.gov/?term=COG5	None	None	135944	50
COG6	component of oligomeric golgi complex 6	COG6-CGD?0010944	https://raresource.nih.gov/literature/gene/COG6	57511	ENSG00000133103	18621	https://pubmed.ncbi.nlm.nih.gov/?term=COG6	None	None	31923	56
COG7	component of oligomeric golgi complex 7	COG7-CDG?0009842	https://raresource.nih.gov/literature/gene/COG7	91949	ENSG00000168434	18622	https://pubmed.ncbi.nlm.nih.gov/?term=COG7	None	None	18523	39
COG8	component of oligomeric golgi complex 8	COG8-CDG?0012411	https://raresource.nih.gov/literature/gene/COG8	84342	ENSG00000213380	18623	https://pubmed.ncbi.nlm.nih.gov/?term=COG8	None	None	4240	64
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	637
COL11A1	collagen type XI alpha 1 chain	Fibrochondrogenesis?0002321;Marshall syndrome?0006984	https://raresource.nih.gov/literature/gene/COL11A1	1301	ENSG00000060718	2186	https://pubmed.ncbi.nlm.nih.gov/?term=COL11A1	None	None	96375	584
COL11A2	collagen type XI alpha 2 chain	Fibrochondrogenesis?0002321;Otospondylomegaepiphyseal dysplasia?0004130	https://raresource.nih.gov/literature/gene/COL11A2	1302	ENSG00000204248	2187	https://pubmed.ncbi.nlm.nih.gov/?term=COL11A2	None	None	13084	18277
COL12A1	collagen type XII alpha 1 chain	Congenital muscular dystrophy, Ullrich type?0004769;Bethlem myopathy?0000873	https://raresource.nih.gov/literature/gene/COL12A1	1303	ENSG00000111799	2188	https://pubmed.ncbi.nlm.nih.gov/?term=COL12A1	None	None	46928	204
COL14A1	collagen type XIV alpha 1 chain	Punctate palmoplantar keratoderma type 1?0003103	https://raresource.nih.gov/literature/gene/COL14A1	7373	ENSG00000187955	2191	https://pubmed.ncbi.nlm.nih.gov/?term=COL14A1	None	None	115888	110
COL18A1	collagen type XVIII alpha 1 chain	Knobloch syndrome?0000380	https://raresource.nih.gov/literature/gene/COL18A1	80781	ENSG00000182871	2195	https://pubmed.ncbi.nlm.nih.gov/?term=COL18A1	None	None	43903	2528
COL1A1	collagen type I alpha 1 chain	Dermatofibrosarcoma protuberans?0009569;Osteogenesis imperfecta type 1?0008694;Osteogenesis imperfecta type 3?0008695;Classical Ehlers-Danlos syndrome?0002088;Osteogenesis imperfecta type 4?0008696;Caffey disease?0001051;Osteogenesis imperfecta type 2?0010142;Arthrochalasia Ehlers-Danlos syndrome?0002084	https://raresource.nih.gov/literature/gene/COL1A1	1277	ENSG00000108821	2197	https://pubmed.ncbi.nlm.nih.gov/?term=COL1A1	None	None	9761	5494
COL1A2	collagen type I alpha 2 chain	Osteogenesis imperfecta type 1?0008694;Osteogenesis imperfecta type 3?0008695;Cardiac-valvular Ehlers-Danlos syndrome?0012613;Osteogenesis imperfecta type 4?0008696;Osteogenesis imperfecta type 2?0010142;Arthrochalasia Ehlers-Danlos syndrome?0002084	https://raresource.nih.gov/literature/gene/COL1A2	1278	ENSG00000164692	2198	https://pubmed.ncbi.nlm.nih.gov/?term=COL1A2	None	None	15650	2973
COL2A1	collagen type II alpha 1 chain	Spondyloepimetaphyseal dysplasia congenita, Strudwick type?0000134;Spondyloperipheral dysplasia-short ulna syndrome?0004994;Platyspondylic dysplasia, Torrance type?0004382;Kniest dysplasia?0006841;Spondylometaphyseal dysplasia, 'corner fracture' type?0004991;Spondyloepiphyseal dysplasia with metatarsal shortening?0010220;Spondylometaphyseal dysplasia, Schmidt type?0000504;Legg-Calvé-Perthes disease?0006874;Spondyloepiphyseal dysplasia congenita?0004987;Familial avascular necrosis of femoral head?0010914	https://raresource.nih.gov/literature/gene/COL2A1	1280	ENSG00000139219	2200	https://pubmed.ncbi.nlm.nih.gov/?term=COL2A1	None	None	10000	2683
COL3A1	collagen type III alpha 1 chain	Familial abdominal aortic aneurysm?0009181;Vascular Ehlers-Danlos syndrome?0002082;Acrogeria?0006543	https://raresource.nih.gov/literature/gene/COL3A1	1281	ENSG00000168542	2201	https://pubmed.ncbi.nlm.nih.gov/?term=COL3A1	None	None	17788	1607
COL4A1	collagen type IV alpha 1 chain	HANAC syndrome?0010889;Walker-Warburg syndrome?0002599;Familial porencephaly?0002258	https://raresource.nih.gov/literature/gene/COL4A1	1282	ENSG00000187498	2202	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A1	None	None	42196	819
COL4A2	collagen type IV alpha 2 chain	Familial porencephaly?0002258	https://raresource.nih.gov/literature/gene/COL4A2	1284	ENSG00000134871	2203	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A2	None	None	54494	442
COL4A3	collagen type IV alpha 3 chain	Autosomal dominant Alport syndrome?0000624;Genetic steroid-resistant nephrotic syndrome?0003946;Autosomal recessive Alport syndrome?0000625	https://raresource.nih.gov/literature/gene/COL4A3	1285	ENSG00000169031	2204	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A3	None	None	61046	708
COL4A4	collagen type IV alpha 4 chain	Autosomal dominant Alport syndrome?0000624;Autosomal recessive Alport syndrome?0000625	https://raresource.nih.gov/literature/gene/COL4A4	1286	ENSG00000081052	2206	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A4	None	None	63668	425
COL4A5	collagen type IV alpha 5 chain	X-linked Alport syndrome-diffuse leiomyomatosis?0002432	https://raresource.nih.gov/literature/gene/COL4A5	1287	ENSG00000188153	2207	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A5	None	None	44618	842
COL4A6	collagen type IV alpha 6 chain	X-linked Alport syndrome-diffuse leiomyomatosis?0002432	https://raresource.nih.gov/literature/gene/COL4A6	1288	ENSG00000197565	2208	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A6	None	None	44230	115
COL5A1	collagen type V alpha 1 chain	Classical Ehlers-Danlos syndrome?0002088	https://raresource.nih.gov/literature/gene/COL5A1	1289	ENSG00000130635	2209	https://pubmed.ncbi.nlm.nih.gov/?term=COL5A1	None	None	87390	581
COL5A2	collagen type V alpha 2 chain	Classical Ehlers-Danlos syndrome?0002088	https://raresource.nih.gov/literature/gene/COL5A2	1290	ENSG00000204262	2210	https://pubmed.ncbi.nlm.nih.gov/?term=COL5A2	None	None	52886	342
COL6A1	collagen type VI alpha 1 chain	Congenital muscular dystrophy, Ullrich type?0004769;Bethlem myopathy?0000873	https://raresource.nih.gov/literature/gene/COL6A1	1291	ENSG00000142156	2211	https://pubmed.ncbi.nlm.nih.gov/?term=COL6A1	None	None	13529	487
COL6A2	collagen type VI alpha 2 chain	Congenital muscular dystrophy, Ullrich type?0004769;Bethlem myopathy?0000873	https://raresource.nih.gov/literature/gene/COL6A2	1292	ENSG00000142173	2212	https://pubmed.ncbi.nlm.nih.gov/?term=COL6A2	None	None	17478	289
COL6A3	collagen type VI alpha 3 chain	Congenital muscular dystrophy, Ullrich type?0004769;Bethlem myopathy?0000873	https://raresource.nih.gov/literature/gene/COL6A3	1293	ENSG00000163359	2213	https://pubmed.ncbi.nlm.nih.gov/?term=COL6A3	None	None	36519	421
COL7A1	collagen type VII alpha 1 chain	Autosomal dominant generalized dystrophic epidermolysis bullosa?0002139;Self-improving dystrophic epidermolysis bullosa?0010010;Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form?0006308;Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form?0012794;Localized dystrophic epidermolysis bullosa, pretibial form?0002155	https://raresource.nih.gov/literature/gene/COL7A1	1294	ENSG00000114270	2214	https://pubmed.ncbi.nlm.nih.gov/?term=COL7A1	None	None	15619	682
COL8A2	collagen type VIII alpha 2 chain	Fuchs endothelial corneal dystrophy?0010018	https://raresource.nih.gov/literature/gene/COL8A2	1296	ENSG00000171812	2216	https://pubmed.ncbi.nlm.nih.gov/?term=COL8A2	None	None	14022	137
COL9A1	collagen type IX alpha 1 chain	Epiphyseal dysplasia, multiple, 6?0013376	https://raresource.nih.gov/literature/gene/COL9A1	1297	ENSG00000112280	2217	https://pubmed.ncbi.nlm.nih.gov/?term=COL9A1	None	None	35529	332
COL9A3	collagen type IX alpha 3 chain	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	374
COLEC10	collectin subfamily member 10	3MC syndrome?0001118	https://raresource.nih.gov/literature/gene/COLEC10	10584	ENSG00000184374	2220	https://pubmed.ncbi.nlm.nih.gov/?term=COLEC10	None	None	41922	96
COLEC11	collectin subfamily member 11	3MC syndrome?0001118	https://raresource.nih.gov/literature/gene/COLEC11	78989	ENSG00000118004	17213	https://pubmed.ncbi.nlm.nih.gov/?term=COLEC11	None	None	23417	279
COMP	cartilage oligomeric matrix protein	Multiple epiphyseal dysplasia type 1?0002180;Pseudoachondroplasia?0004540	https://raresource.nih.gov/literature/gene/COMP	1311	ENSG00000105664	2227	https://pubmed.ncbi.nlm.nih.gov/?term=COMP	None	None	4312	2164
COMT	catechol-O-methyltransferase	22q11.2 deletion syndrome?0010299	https://raresource.nih.gov/literature/gene/COMT	1312	ENSG00000093010	2228	https://pubmed.ncbi.nlm.nih.gov/?term=COMT	None	None	11094	6581
COPB2	COPI coat complex subunit beta 2	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	79
COQ6	coenzyme Q6, monooxygenase	Schwannomatosis?0004768	https://raresource.nih.gov/literature/gene/COQ6	51004	ENSG00000119723	20233	https://pubmed.ncbi.nlm.nih.gov/?term=COQ6	None	None	3952	67
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	125
COQ8B	coenzyme Q8B	Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/COQ8B	79934	ENSG00000123815	19041	https://pubmed.ncbi.nlm.nih.gov/?term=COQ8B	None	None	7218	58
CORD1	Cone rod dystrophy 1, autosomal dominant	Cone-rod dystrophy 1?0010651	https://raresource.nih.gov/literature/gene/CORD1	1319			https://pubmed.ncbi.nlm.nih.gov/?term=CORD1	None	None	None	101
COX10	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10	Isolated cytochrome C oxidase deficiency?0000048	https://raresource.nih.gov/literature/gene/COX10	1352	ENSG00000006695	2260	https://pubmed.ncbi.nlm.nih.gov/?term=COX10	None	None	38684	160
COX14	cytochrome c oxidase assembly factor COX14	Isolated cytochrome C oxidase deficiency?0000048	https://raresource.nih.gov/literature/gene/COX14	84987	ENSG00000178449	28216	https://pubmed.ncbi.nlm.nih.gov/?term=COX14	None	None	4102	26
COX20	cytochrome c oxidase assembly factor COX20	Isolated cytochrome C oxidase deficiency?0000048	https://raresource.nih.gov/literature/gene/COX20	116228	ENSG00000203667	26970	https://pubmed.ncbi.nlm.nih.gov/?term=COX20	None	None	5887	36
COX4I1	cytochrome c oxidase subunit 4I1	Isolated cytochrome C oxidase deficiency?0000048	https://raresource.nih.gov/literature/gene/COX4I1	1327	ENSG00000131143	2265	https://pubmed.ncbi.nlm.nih.gov/?term=COX4I1	None	None	4546	529
COX5A	cytochrome c oxidase subunit 5A	Isolated cytochrome C oxidase deficiency?0000048	https://raresource.nih.gov/literature/gene/COX5A	9377	ENSG00000178741	2267	https://pubmed.ncbi.nlm.nih.gov/?term=COX5A	None	None	8134	9789
COX6A2	cytochrome c oxidase subunit 6A2	Isolated cytochrome C oxidase deficiency?0000048	https://raresource.nih.gov/literature/gene/COX6A2	1339	ENSG00000156885	2279	https://pubmed.ncbi.nlm.nih.gov/?term=COX6A2	None	None	1189	48
COX6B1	cytochrome c oxidase subunit 6B1	Isolated cytochrome C oxidase deficiency?0000048	https://raresource.nih.gov/literature/gene/COX6B1	1340	ENSG00000126267	2280	https://pubmed.ncbi.nlm.nih.gov/?term=COX6B1	None	None	4465	57
COX7B	cytochrome c oxidase subunit 7B	Microphthalmia with linear skin defects syndrome?0003659	https://raresource.nih.gov/literature/gene/COX7B	1349	ENSG00000131174	2291	https://pubmed.ncbi.nlm.nih.gov/?term=COX7B	None	None	2200	47
COX8A	cytochrome c oxidase subunit 8A	Isolated cytochrome C oxidase deficiency?0000048	https://raresource.nih.gov/literature/gene/COX8A	1351	ENSG00000176340	2294	https://pubmed.ncbi.nlm.nih.gov/?term=COX8A	None	None	62	9763
CP	ceruloplasmin	Aceruloplasminemia?0009499	https://raresource.nih.gov/literature/gene/CP	1356	ENSG00000047457	2295	https://pubmed.ncbi.nlm.nih.gov/?term=CP	None	None	19349	263
CPA1	carboxypeptidase A1	Hereditary chronic pancreatitis?0006632	https://raresource.nih.gov/literature/gene/CPA1	1357	ENSG00000091704	2296	https://pubmed.ncbi.nlm.nih.gov/?term=CPA1	None	None	4467	657
CPLANE1	ciliogenesis and planar polarity effector complex subunit 1	Joubert syndrome?0006802;Monomelic amyotrophy?0009697;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	77
CPLX1	complexin 1	Wolf-Hirschhorn syndrome?0007896	https://raresource.nih.gov/literature/gene/CPLX1	10815	ENSG00000168993	2309	https://pubmed.ncbi.nlm.nih.gov/?term=CPLX1	None	None	21061	148
CPOX	coproporphyrinogen oxidase	Hereditary coproporphyria?0006619	https://raresource.nih.gov/literature/gene/CPOX	1371	ENSG00000080819	2321	https://pubmed.ncbi.nlm.nih.gov/?term=CPOX	None	None	6910	10504
CPS1	carbamoyl-phosphate synthase 1	Carbamoyl-phosphate synthetase 1 deficiency?0007269	https://raresource.nih.gov/literature/gene/CPS1	1373	ENSG00000021826	2323	https://pubmed.ncbi.nlm.nih.gov/?term=CPS1	None	None	75817	497
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	2771
CR2	complement C3d receptor 2	Common variable immunodeficiency?0006140	https://raresource.nih.gov/literature/gene/CR2	1380	ENSG00000117322	2336	https://pubmed.ncbi.nlm.nih.gov/?term=CR2	None	None	14834	4385
CRB1	crumbs cell polarity complex component 1	Retinitis pigmentosa?0005694;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/CRB1	23418	ENSG00000134376	2343	https://pubmed.ncbi.nlm.nih.gov/?term=CRB1	None	None	82457	374
CRB2	crumbs cell polarity complex component 2	Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/CRB2	286204	ENSG00000148204	18688	https://pubmed.ncbi.nlm.nih.gov/?term=CRB2	None	None	12518	140
CREB3L1	cAMP responsive element binding protein 3 like 1	Osteogenesis imperfecta type 3?0008695	https://raresource.nih.gov/literature/gene/CREB3L1	90993	ENSG00000157613	18856	https://pubmed.ncbi.nlm.nih.gov/?term=CREB3L1	None	None	17321	215
CREBBP	CREB binding protein	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion?0010754	https://raresource.nih.gov/literature/gene/CREBBP	1387	ENSG00000005339	2348	https://pubmed.ncbi.nlm.nih.gov/?term=CREBBP	None	None	67525	5634
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	15213
CRLF1	cytokine receptor like factor 1	Crisponi syndrome?0001611;Idiopathic achalasia?0005708	https://raresource.nih.gov/literature/gene/CRLF1	9244	ENSG00000006016	2364	https://pubmed.ncbi.nlm.nih.gov/?term=CRLF1	None	None	6413	278
CRPPA	CDP-L-ribitol pyrophosphorylase A	Walker-Warburg syndrome?0002599	https://raresource.nih.gov/literature/gene/CRPPA	729920	ENSG00000214960	37276	https://pubmed.ncbi.nlm.nih.gov/?term=CRPPA	None	None	134939	240
CRTAP	cartilage associated protein	Osteogenesis imperfecta type 2?0010142;Osteogenesis imperfecta type 3?0008695;Osteogenesis imperfecta type 4?0008696;Osteogenesis imperfecta, type vii?0008701	https://raresource.nih.gov/literature/gene/CRTAP	10491	ENSG00000170275	2379	https://pubmed.ncbi.nlm.nih.gov/?term=CRTAP	None	None	13870	323
CRX	cone-rod homeobox	Cone-rod dystrophy 2?0006145;Retinitis pigmentosa?0005694;Cone rod dystrophy?0010790;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/CRX	1406	ENSG00000105392	2383	https://pubmed.ncbi.nlm.nih.gov/?term=CRX	None	None	9334	647
CRYAA	crystallin alpha A	Cataract-microcornea syndrome?0001155;Total early-onset cataract?0001159;Early-onset anterior polar cataract?0001140	https://raresource.nih.gov/literature/gene/CRYAA	1409	ENSG00000160202	2388	https://pubmed.ncbi.nlm.nih.gov/?term=CRYAA	None	None	1789	206
CRYAB	crystallin alpha B	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/CRYAB	1410	ENSG00000109846	2389	https://pubmed.ncbi.nlm.nih.gov/?term=CRYAB	None	None	3591	27
CRYBA2	crystallin beta A2	Early-onset anterior polar cataract?0001140	https://raresource.nih.gov/literature/gene/CRYBA2	1412	ENSG00000163499	2395	https://pubmed.ncbi.nlm.nih.gov/?term=CRYBA2	None	None	2860	28
CRYBA4	crystallin beta A4	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	61
CRYBB1	crystallin beta B1	Cataract-microcornea syndrome?0001155	https://raresource.nih.gov/literature/gene/CRYBB1	1414	ENSG00000100122	2397	https://pubmed.ncbi.nlm.nih.gov/?term=CRYBB1	None	None	5338	99
CRYBB2	crystallin beta B2	Cataract-microcornea syndrome?0001155;Cerulean cataract?0009508;Total early-onset cataract?0001159	https://raresource.nih.gov/literature/gene/CRYBB2	1415	ENSG00000244752	2398	https://pubmed.ncbi.nlm.nih.gov/?term=CRYBB2	None	None	7456	2227
CRYBB3	crystallin beta B3	Early-onset anterior polar cataract?0001140	https://raresource.nih.gov/literature/gene/CRYBB3	1417	ENSG00000100053	2400	https://pubmed.ncbi.nlm.nih.gov/?term=CRYBB3	None	None	3157	3
CRYGB	crystallin gamma B	Total early-onset cataract?0001159;Early-onset anterior polar cataract?0001140	https://raresource.nih.gov/literature/gene/CRYGB	1419	ENSG00000182187	2409	https://pubmed.ncbi.nlm.nih.gov/?term=CRYGB	None	None	3266	23
CRYGC	crystallin gamma C	Cataract-microcornea syndrome?0001155	https://raresource.nih.gov/literature/gene/CRYGC	1420	ENSG00000163254	2410	https://pubmed.ncbi.nlm.nih.gov/?term=CRYGC	None	None	1939	141
CRYGD	crystallin gamma D	Cerulean cataract?0009508;Cataract-microcornea syndrome?0001155;Cataract 4, multiple types?0001144	https://raresource.nih.gov/literature/gene/CRYGD	1421	ENSG00000118231	2411	https://pubmed.ncbi.nlm.nih.gov/?term=CRYGD	None	None	2672	1172
CSF1R	colony stimulating factor 1 receptor	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia?0010981	https://raresource.nih.gov/literature/gene/CSF1R	1436	ENSG00000182578	2433	https://pubmed.ncbi.nlm.nih.gov/?term=CSF1R	None	None	29949	3719
CSF2RA	colony stimulating factor 2 receptor subunit alpha	Hereditary pulmonary alveolar proteinosis?0004582	https://raresource.nih.gov/literature/gene/CSF2RA	1438	ENSG00000198223	2435	https://pubmed.ncbi.nlm.nih.gov/?term=CSF2RA	None	None	26735	298
CSF2RB	colony stimulating factor 2 receptor subunit beta	Hereditary pulmonary alveolar proteinosis?0004582	https://raresource.nih.gov/literature/gene/CSF2RB	1439	ENSG00000100368	2436	https://pubmed.ncbi.nlm.nih.gov/?term=CSF2RB	None	None	8361	175
CSF3R	colony stimulating factor 3 receptor	Chronic neutrophilic leukemia?0010585	https://raresource.nih.gov/literature/gene/CSF3R	1441	ENSG00000119535	2439	https://pubmed.ncbi.nlm.nih.gov/?term=CSF3R	None	None	7690	1089
CSNK1D	casein kinase 1 delta	Familial 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	547
CSNK2B	casein kinase 2 beta	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	736
CSPP1	centrosome and spindle pole associated protein 1	Joubert syndrome?0006802;Meckel syndrome?0003436	https://raresource.nih.gov/literature/gene/CSPP1	79848	ENSG00000104218	26193	https://pubmed.ncbi.nlm.nih.gov/?term=CSPP1	None	None	49144	55
CSRP3	cysteine and glycine rich protein 3	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/CSRP3	8048	ENSG00000129170	2472	https://pubmed.ncbi.nlm.nih.gov/?term=CSRP3	None	None	11523	1121
CSTA	cystatin A	Acral peeling skin syndrome?0012863	https://raresource.nih.gov/literature/gene/CSTA	1475	ENSG00000121552	2481	https://pubmed.ncbi.nlm.nih.gov/?term=CSTA	None	None	8121	302
CSTB	cystatin B	Progressive myoclonic epilepsy type 1?0003876;Autosomal recessive hypohidrotic ectodermal dysplasia?0002057	https://raresource.nih.gov/literature/gene/CSTB	1476	ENSG00000160213	2482	https://pubmed.ncbi.nlm.nih.gov/?term=CSTB	None	None	2863	1090
CTBP1	C-terminal binding protein 1	Wolf-Hirschhorn syndrome?0007896	https://raresource.nih.gov/literature/gene/CTBP1	1487	ENSG00000159692	2494	https://pubmed.ncbi.nlm.nih.gov/?term=CTBP1	None	None	20526	404
CTC1	CST telomere replication complex component 1	Dyskeratosis congenita?0010905	https://raresource.nih.gov/literature/gene/CTC1	80169	ENSG00000178971	26169	https://pubmed.ncbi.nlm.nih.gov/?term=CTC1	None	None	8715	172
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	1878
CTLA4	cytotoxic T-lymphocyte associated protein 4	Classic mycosis fungoides?0003863;Sézary syndrome?0007629;Granulomatosis with polyangiitis?0007880;Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency?0012316	https://raresource.nih.gov/literature/gene/CTLA4	1493	ENSG00000163599	2505	https://pubmed.ncbi.nlm.nih.gov/?term=CTLA4	None	None	3748	14346
CTNNA1	catenin alpha 1	Hereditary diffuse gastric cancer?0010900	https://raresource.nih.gov/literature/gene/CTNNA1	1495	ENSG00000044115	2509	https://pubmed.ncbi.nlm.nih.gov/?term=CTNNA1	None	None	86855	205
CTNNB1	catenin beta 1	Severe intellectual disability-progressive spastic diplegia syndrome?0003505;Adult hepatocellular carcinoma?0006608;Pilomatrixoma?0009452;Craniopharyngioma?0010486;Familial exudative vitreoretinopathy?0001613;Desmoid tumor?0001820;Pediatric hepatocellular carcinoma?0009331	https://raresource.nih.gov/literature/gene/CTNNB1	1499	ENSG00000168036	2514	https://pubmed.ncbi.nlm.nih.gov/?term=CTNNB1	None	None	22446	3840
CTNND1	catenin delta 1	Blepharo-cheilo-odontic syndrome?0002071	https://raresource.nih.gov/literature/gene/CTNND1	1500	ENSG00000198561	2515	https://pubmed.ncbi.nlm.nih.gov/?term=CTNND1	None	None	25483	241
CTNND2	catenin delta 2	Monosomy 5p?0006213	https://raresource.nih.gov/literature/gene/CTNND2	1501	ENSG00000169862	2516	https://pubmed.ncbi.nlm.nih.gov/?term=CTNND2	None	None	347446	127
CTRC	chymotrypsin C	Hereditary chronic pancreatitis?0006632	https://raresource.nih.gov/literature/gene/CTRC	11330	ENSG00000162438	2523	https://pubmed.ncbi.nlm.nih.gov/?term=CTRC	None	None	5772	208
CTRCT35	Cataract 35	Cataract 35?0009492	https://raresource.nih.gov/literature/gene/CTRCT35	619404			https://pubmed.ncbi.nlm.nih.gov/?term=CTRCT35	None	None	None	None
CTSA	cathepsin A	Galactosialidosis?0003953	https://raresource.nih.gov/literature/gene/CTSA	5476	ENSG00000064601	9251	https://pubmed.ncbi.nlm.nih.gov/?term=CTSA	None	None	2199	559
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	9063
CTSC	cathepsin C	Papillon-Lefèvre syndrome?0003100;Haim-Munk syndrome?0000044	https://raresource.nih.gov/literature/gene/CTSC	1075	ENSG00000109861	2528	https://pubmed.ncbi.nlm.nih.gov/?term=CTSC	None	None	12900	1117
CTSD	cathepsin D	CLN10 disease?0001218	https://raresource.nih.gov/literature/gene/CTSD	1509	ENSG00000117984	2529	https://pubmed.ncbi.nlm.nih.gov/?term=CTSD	None	None	111	5582
CTSH	cathepsin H	Narcolepsy type 1?0007162	https://raresource.nih.gov/literature/gene/CTSH	1512	ENSG00000103811	2535	https://pubmed.ncbi.nlm.nih.gov/?term=CTSH	None	None	12132	581
CTSK	cathepsin K	Pycnodysostosis?0004611	https://raresource.nih.gov/literature/gene/CTSK	1513	ENSG00000143387	2536	https://pubmed.ncbi.nlm.nih.gov/?term=CTSK	None	None	6197	240
CUBN	cubilin	Imerslund-Gräsbeck syndrome?0007006	https://raresource.nih.gov/literature/gene/CUBN	8029	ENSG00000107611	2548	https://pubmed.ncbi.nlm.nih.gov/?term=CUBN	None	None	119979	1540
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	270
CUL7	cullin 7	3M syndrome?0005667	https://raresource.nih.gov/literature/gene/CUL7	9820	ENSG00000044090	21024	https://pubmed.ncbi.nlm.nih.gov/?term=CUL7	None	None	8216	134
CUX1	cut like homeobox 1	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	5400
CUX2	cut like homeobox 2	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	109
CXCR4	C-X-C motif chemokine receptor 4	WHIM syndrome?0009297	https://raresource.nih.gov/literature/gene/CXCR4	7852	ENSG00000121966	2561	https://pubmed.ncbi.nlm.nih.gov/?term=CXCR4	None	None	3691	14936
CYB5A	cytochrome b5 type A	Hereditary methemoglobinemia?0002659	https://raresource.nih.gov/literature/gene/CYB5A	1528	ENSG00000166347	2570	https://pubmed.ncbi.nlm.nih.gov/?term=CYB5A	None	None	11053	2293
CYB5R3	cytochrome b5 reductase 3	Hereditary methemoglobinemia?0002659	https://raresource.nih.gov/literature/gene/CYB5R3	1727	ENSG00000100243	2873	https://pubmed.ncbi.nlm.nih.gov/?term=CYB5R3	None	None	11598	305
CYBA	cytochrome b-245 alpha chain	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	1286
CYBB	cytochrome b-245 beta chain	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	4592
CYBC1	cytochrome b-245 chaperone 1	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	32
CYC1	cytochrome c1	Isolated complex III deficiency?0008295	https://raresource.nih.gov/literature/gene/CYC1	1537	ENSG00000179091	2579	https://pubmed.ncbi.nlm.nih.gov/?term=CYC1	None	None	2053	38
CYP11B1	cytochrome P450 family 11 subfamily B member 1	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency?0005658;Familial hyperaldosteronism type I?0002790	https://raresource.nih.gov/literature/gene/CYP11B1	1584	ENSG00000160882	2591	https://pubmed.ncbi.nlm.nih.gov/?term=CYP11B1	None	None	5355	1037
CYP11B2	cytochrome P450 family 11 subfamily B member 2	Familial hyperaldosteronism type I?0002790	https://raresource.nih.gov/literature/gene/CYP11B2	1585	ENSG00000179142	2592	https://pubmed.ncbi.nlm.nih.gov/?term=CYP11B2	None	None	5200	1873
CYP17A1	cytochrome P450 family 17 subfamily A member 1	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency?0001469	https://raresource.nih.gov/literature/gene/CYP17A1	1586	ENSG00000148795	2593	https://pubmed.ncbi.nlm.nih.gov/?term=CYP17A1	None	None	3622	3279
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	16484
CYP1B1	cytochrome P450 family 1 subfamily B member 1	Peters anomaly?0007377;Congenital glaucoma?0002485	https://raresource.nih.gov/literature/gene/CYP1B1	1545	ENSG00000138061	2597	https://pubmed.ncbi.nlm.nih.gov/?term=CYP1B1	None	None	21112	4221
CYP27A1	cytochrome P450 family 27 subfamily A member 1	Cerebrotendinous xanthomatosis?0005622	https://raresource.nih.gov/literature/gene/CYP27A1	1593	ENSG00000135929	2605	https://pubmed.ncbi.nlm.nih.gov/?term=CYP27A1	None	None	13629	3835
CYP4F22	cytochrome P450 family 4 subfamily F member 22	Lamellar ichthyosis?0010803;Ichthyosis, congenital, autosomal recessive 5?0009734	https://raresource.nih.gov/literature/gene/CYP4F22	126410	ENSG00000171954	26820	https://pubmed.ncbi.nlm.nih.gov/?term=CYP4F22	None	None	14071	57
CYP4V2	cytochrome P450 family 4 subfamily V member 2	Bietti crystalline dystrophy?0010050	https://raresource.nih.gov/literature/gene/CYP4V2	285440	ENSG00000145476	23198	https://pubmed.ncbi.nlm.nih.gov/?term=CYP4V2	None	None	10682	442
CYP7B1	cytochrome P450 family 7 subfamily B member 1	Autosomal recessive spastic paraplegia type 5A?0004926	https://raresource.nih.gov/literature/gene/CYP7B1	9420	ENSG00000172817	2652	https://pubmed.ncbi.nlm.nih.gov/?term=CYP7B1	None	None	76378	76
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	237
D2HGDH	D-2-hydroxyglutarate dehydrogenase	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	57
DAAM2	dishevelled associated activator of morphogenesis 2	Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/DAAM2	23500	ENSG00000146122	18143	https://pubmed.ncbi.nlm.nih.gov/?term=DAAM2	None	None	42741	74
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	450
DACT1	dishevelled binding antagonist of beta catenin 1	Craniorachischisis?0010504;Townes-Brocks syndrome?0007784	https://raresource.nih.gov/literature/gene/DACT1	51339	ENSG00000165617	17748	https://pubmed.ncbi.nlm.nih.gov/?term=DACT1	None	None	6590	164
DAG1	dystroglycan 1	Walker-Warburg syndrome?0002599	https://raresource.nih.gov/literature/gene/DAG1	1605	ENSG00000173402	2666	https://pubmed.ncbi.nlm.nih.gov/?term=DAG1	None	None	31442	431
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	2480
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	195
DBA2	Diamond-Blackfan anemia 2	Diamond-blackfan anemia 2?0008283	https://raresource.nih.gov/literature/gene/DBA2	114086			https://pubmed.ncbi.nlm.nih.gov/?term=DBA2	None	None	None	3
DBH	dopamine beta-hydroxylase	Dopamine beta-hydroxylase deficiency?0001903	https://raresource.nih.gov/literature/gene/DBH	1621	ENSG00000123454	2689	https://pubmed.ncbi.nlm.nih.gov/?term=DBH	None	None	11716	4266
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	48
DCAF8	DDB1 and CUL4 associated factor 8	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons?0012447	https://raresource.nih.gov/literature/gene/DCAF8	50717	ENSG00000132716	24891	https://pubmed.ncbi.nlm.nih.gov/?term=DCAF8	None	None	17420	16
DCC	DCC netrin 1 receptor	Horizontal gaze palsy with progressive scoliosis?0012682;Familial congenital mirror movements?0012551;Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/DCC	1630	ENSG00000187323	2701	https://pubmed.ncbi.nlm.nih.gov/?term=DCC	None	None	455407	1392
DCHS1	dachsous cadherin-related 1	Familial mitral valve prolapse?0003687;Cerebrofacioarticular syndrome?0005456	https://raresource.nih.gov/literature/gene/DCHS1	8642	ENSG00000166341	13681	https://pubmed.ncbi.nlm.nih.gov/?term=DCHS1	None	None	14307	114
DCLRE1C	DNA cross-link repair 1C	Omenn syndrome?0008198;Severe combined immunodeficiency due to DCLRE1C deficiency?0009987	https://raresource.nih.gov/literature/gene/DCLRE1C	64421	ENSG00000152457	17642	https://pubmed.ncbi.nlm.nih.gov/?term=DCLRE1C	None	None	23892	90
DCTN1	dynactin subunit 1	Perry syndrome?0010453;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/DCTN1	1639	ENSG00000204843	2711	https://pubmed.ncbi.nlm.nih.gov/?term=DCTN1	None	None	14069	248
DCTN4	dynactin subunit 4	Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/DCTN4	51164	ENSG00000132912	15518	https://pubmed.ncbi.nlm.nih.gov/?term=DCTN4	None	None	20190	9552
DCX	doublecortin	Lissencephaly type 1 due to doublecortin gene mutation?0006914;Subcortical band heterotopia?0001904	https://raresource.nih.gov/literature/gene/DCX	1641	ENSG00000077279	2714	https://pubmed.ncbi.nlm.nih.gov/?term=DCX	None	None	19611	13
DCXR	dicarbonyl and L-xylulose reductase	Pentosuria?0000418	https://raresource.nih.gov/literature/gene/DCXR	51181	ENSG00000169738	18985	https://pubmed.ncbi.nlm.nih.gov/?term=DCXR	None	None	1905	398
DDB2	damage specific DNA binding protein 2	Xeroderma pigmentosum?0007910	https://raresource.nih.gov/literature/gene/DDB2	1643	ENSG00000134574	2718	https://pubmed.ncbi.nlm.nih.gov/?term=DDB2	None	None	12437	454
DDC	dopa decarboxylase	Aromatic L-amino acid decarboxylase deficiency?0000770	https://raresource.nih.gov/literature/gene/DDC	1644	ENSG00000132437	2719	https://pubmed.ncbi.nlm.nih.gov/?term=DDC	None	None	11285	2638
DDIT3	DNA damage inducible transcript 3	Myxoid/round cell liposarcoma?0007157	https://raresource.nih.gov/literature/gene/DDIT3	1649	ENSG00000175197	2726	https://pubmed.ncbi.nlm.nih.gov/?term=DDIT3	None	None	1788	7775
DDOST	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	DDOST-CDG?0012398	https://raresource.nih.gov/literature/gene/DDOST	1650	ENSG00000244038	2728	https://pubmed.ncbi.nlm.nih.gov/?term=DDOST	None	None	4976	515
DDR2	discoidin domain receptor tyrosine kinase 2	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	844
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	60
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	448
DDX3X	DEAD-box helicase 3 X-linked	Toriello-Carey syndrome?0005225;X-linked intellectual disability-hypotonia-movement disorder syndrome?0012715	https://raresource.nih.gov/literature/gene/DDX3X	1654	ENSG00000215301	2745	https://pubmed.ncbi.nlm.nih.gov/?term=DDX3X	None	None	9389	719
DDX59	DEAD-box helicase 59	Orofaciodigital syndrome type 5?0004120	https://raresource.nih.gov/literature/gene/DDX59	83479	ENSG00000118197	25360	https://pubmed.ncbi.nlm.nih.gov/?term=DDX59	None	None	18797	12
DEAF1	DEAF1 transcription factor	Intellectual disability-epilepsy-extrapyramidal syndrome?0013474;Autosomal dominant non-syndromic intellectual disability?0012107;Smith-Magenis syndrome?0008197	https://raresource.nih.gov/literature/gene/DEAF1	10522	ENSG00000177030	14677	https://pubmed.ncbi.nlm.nih.gov/?term=DEAF1	None	None	25555	257
DEPDC5	DEP domain containing 5, GATOR1 subcomplex subunit	Autosomal dominant epilepsy with auditory features?0002257;Familial focal epilepsy with variable foci?0013295;Autosomal dominant nocturnal frontal lobe epilepsy?0011918	https://raresource.nih.gov/literature/gene/DEPDC5	9681	ENSG00000100150	18423	https://pubmed.ncbi.nlm.nih.gov/?term=DEPDC5	None	None	42593	202
DES	desmin	Familial isolated dilated cardiomyopathy?0002905;Neurogenic scapuloperoneal syndrome, Kaeser type?0010312	https://raresource.nih.gov/literature/gene/DES	1674	ENSG00000175084	2770	https://pubmed.ncbi.nlm.nih.gov/?term=DES	None	None	5254	13818
DFNA24	Deafness, autosomal dominant 24	Deafness, autosomal dominant 24?0009166	https://raresource.nih.gov/literature/gene/DFNA24	23723			https://pubmed.ncbi.nlm.nih.gov/?term=DFNA24	None	None	None	2
DFNA53	Deafness, autosomal dominant 53	Deafness, autosomal dominant 53?0009934	https://raresource.nih.gov/literature/gene/DFNA53	353347			https://pubmed.ncbi.nlm.nih.gov/?term=DFNA53	None	None	None	1
DFNB47	Deafness, neurosensory, autosomal recessive 47	Deafness, autosomal recessive 47?0009935	https://raresource.nih.gov/literature/gene/DFNB47	449489			https://pubmed.ncbi.nlm.nih.gov/?term=DFNB47	None	None	None	2
DFNB51	Deafness, autosomal recessive 51	Deafness, autosomal recessive 51?0009918	https://raresource.nih.gov/literature/gene/DFNB51	448963			https://pubmed.ncbi.nlm.nih.gov/?term=DFNB51	None	None	None	2
DFNB55	Deafness, autosomal recessive 55	Deafness, autosomal recessive 55?0009919	https://raresource.nih.gov/literature/gene/DFNB55	494148			https://pubmed.ncbi.nlm.nih.gov/?term=DFNB55	None	None	None	1
DGUOK	deoxyguanosine kinase	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency?0013644	https://raresource.nih.gov/literature/gene/DGUOK	1716	ENSG00000114956	2858	https://pubmed.ncbi.nlm.nih.gov/?term=DGUOK	None	None	13580	898
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	392
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	637
DHDDS	dehydrodolichyl diphosphate synthase subunit	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/DHDDS	79947	ENSG00000117682	20603	https://pubmed.ncbi.nlm.nih.gov/?term=DHDDS	None	None	15144	1298
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	6685
DHH	desert hedgehog signaling molecule	46,XY complete gonadal dysgenesis?0005068	https://raresource.nih.gov/literature/gene/DHH	50846	ENSG00000139549	2865	https://pubmed.ncbi.nlm.nih.gov/?term=DHH	None	None	3301	319
DHODH	dihydroorotate dehydrogenase (quinone)	Postaxial acrofacial dysostosis?0008410	https://raresource.nih.gov/literature/gene/DHODH	1723	ENSG00000102967	2867	https://pubmed.ncbi.nlm.nih.gov/?term=DHODH	None	None	7922	551
DHX37	DEAH-box helicase 37	46,XY complete gonadal dysgenesis?0005068	https://raresource.nih.gov/literature/gene/DHX37	57647	ENSG00000150990	17210	https://pubmed.ncbi.nlm.nih.gov/?term=DHX37	None	None	18534	57
DHX38	DEAH-box helicase 38	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/DHX38	9785	ENSG00000140829	17211	https://pubmed.ncbi.nlm.nih.gov/?term=DHX38	None	None	7580	95
DIAPH1	diaphanous related formin 1	Moyamoya disease?0007064	https://raresource.nih.gov/literature/gene/DIAPH1	1729	ENSG00000131504	2876	https://pubmed.ncbi.nlm.nih.gov/?term=DIAPH1	None	None	41122	494
DICER1	dicer 1, ribonuclease III	Gynandroblastoma?0009665;Malignant Sertoli-Leydig cell tumor of the ovary?0005495;Pleuropulmonary blastoma familial tumor susceptibility syndrome?0010734;Embryonal rhabdomyosarcoma?0004702	https://raresource.nih.gov/literature/gene/DICER1	23405	ENSG00000100697	17098	https://pubmed.ncbi.nlm.nih.gov/?term=DICER1	None	None	27249	3932
DIRC3	disrupted in renal carcinoma 3	Hereditary clear cell renal cell carcinoma?0009571;Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/DIRC3	729582	ENSG00000231672	17805	https://pubmed.ncbi.nlm.nih.gov/?term=DIRC3	None	None	147587	25
DIS3L2	DIS3 like 3'-5' exoribonuclease 2	Nephroblastoma?0007892;Perlman syndrome?0003936	https://raresource.nih.gov/literature/gene/DIS3L2	129563	ENSG00000144535	28648	https://pubmed.ncbi.nlm.nih.gov/?term=DIS3L2	None	None	162076	97
DKC1	dyskerin pseudouridine synthase 1	Dyskeratosis congenita, x-linked?0002007;Dyskeratosis congenita?0010905;Hoyeraal-Hreidarsson syndrome?0000346	https://raresource.nih.gov/literature/gene/DKC1	1736	ENSG00000130826	2890	https://pubmed.ncbi.nlm.nih.gov/?term=DKC1	None	None	3926	373
DKK1	dickkopf WNT signaling pathway inhibitor 1	Idiopathic juvenile osteoporosis?0006760;Arnold-Chiari malformation type I?0009233	https://raresource.nih.gov/literature/gene/DKK1	22943	ENSG00000107984	2891	https://pubmed.ncbi.nlm.nih.gov/?term=DKK1	None	None	2610	4549
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	5033
DLK1	delta like non-canonical Notch ligand 1	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14?0005409	https://raresource.nih.gov/literature/gene/DLK1	8788	ENSG00000185559	2907	https://pubmed.ncbi.nlm.nih.gov/?term=DLK1	None	None	6293	1953
DLL1	delta like canonical Notch ligand 1	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/DLL1	28514	ENSG00000198719	2908	https://pubmed.ncbi.nlm.nih.gov/?term=DLL1	None	None	4895	4432
DLL3	delta like canonical Notch ligand 3	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	373
DLL4	delta like canonical Notch ligand 4	Aplasia cutis congenita?0005835;Adams-Oliver syndrome?0005739	https://raresource.nih.gov/literature/gene/DLL4	54567	ENSG00000128917	2910	https://pubmed.ncbi.nlm.nih.gov/?term=DLL4	None	None	4189	1225
DLST	dihydrolipoamide S-succinyltransferase	Hereditary pheochromocytoma-paraganglioma?0011984	https://raresource.nih.gov/literature/gene/DLST	1743	ENSG00000119689	2911	https://pubmed.ncbi.nlm.nih.gov/?term=DLST	None	None	8267	179
DLX3	distal-less homeobox 3	Tricho-dento-osseous syndrome?0007799	https://raresource.nih.gov/literature/gene/DLX3	1747	ENSG00000064195	2916	https://pubmed.ncbi.nlm.nih.gov/?term=DLX3	None	None	2894	727
DLX5	distal-less homeobox 5	Isolated split hand-split foot malformation?0006319	https://raresource.nih.gov/literature/gene/DLX5	1749	ENSG00000105880	2918	https://pubmed.ncbi.nlm.nih.gov/?term=DLX5	None	None	3778	789
DLX6	distal-less homeobox 6	Isolated split hand-split foot malformation?0006319	https://raresource.nih.gov/literature/gene/DLX6	1750	ENSG00000006377	2919	https://pubmed.ncbi.nlm.nih.gov/?term=DLX6	None	None	3010	267
DMD	dystrophin	Familial isolated dilated cardiomyopathy?0002905;Becker muscular dystrophy?0005900;Duchenne muscular dystrophy?0006291	https://raresource.nih.gov/literature/gene/DMD	1756	ENSG00000198947	2928	https://pubmed.ncbi.nlm.nih.gov/?term=DMD	None	None	466598	6878
DMRT1	doublesex and mab-3 related transcription factor 1	46,XY complete gonadal dysgenesis?0005068	https://raresource.nih.gov/literature/gene/DMRT1	1761	ENSG00000137090	2934	https://pubmed.ncbi.nlm.nih.gov/?term=DMRT1	None	None	66530	1839
DMXL2	Dmx like 2	Early infantile epileptic encephalopathy?0009255	https://raresource.nih.gov/literature/gene/DMXL2	23312	ENSG00000104093	2938	https://pubmed.ncbi.nlm.nih.gov/?term=DMXL2	None	None	44079	149
DNAAF1	dynein axonemal assembly factor 1	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	39
DNAAF11	dynein axonemal assembly factor 11	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	36
DNAAF2	dynein axonemal assembly factor 2	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	28
DNAAF3	dynein axonemal assembly factor 3	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	573
DNAAF4	dynein axonemal assembly factor 4	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	312
DNAAF5	dynein axonemal assembly factor 5	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	14
DNAAF6	dynein axonemal assembly factor 6	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	48
DNAH1	dynein axonemal heavy chain 1	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	76
DNAH10	dynein axonemal heavy chain 10	Male infertility due to large-headed multiflagellar polyploid spermatozoa?0012385	https://raresource.nih.gov/literature/gene/DNAH10	196385	ENSG00000197653	2941	https://pubmed.ncbi.nlm.nih.gov/?term=DNAH10	None	None	62138	22
DNAH11	dynein axonemal heavy chain 11	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	117
DNAH5	dynein axonemal heavy chain 5	Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/DNAH5	1767	ENSG00000039139	2950	https://pubmed.ncbi.nlm.nih.gov/?term=DNAH5	None	None	99549	350
DNAH9	dynein axonemal heavy chain 9	Situs inversus totalis?0004883;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	72
DNAI1	dynein axonemal intermediate chain 1	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	356
DNAI2	dynein axonemal intermediate chain 2	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	46
DNAJB11	DnaJ heat shock protein family (Hsp40) member B11	Autosomal dominant polycystic kidney disease?0010413	https://raresource.nih.gov/literature/gene/DNAJB11	51726	ENSG00000090520	14889	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJB11	None	None	6902	95
DNAJB13	DnaJ heat shock protein family (Hsp40) member B13	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	64
DNAJC19	DnaJ heat shock protein family (Hsp40) member C19	Dilated cardiomyopathy with ataxia?0012964	https://raresource.nih.gov/literature/gene/DNAJC19	131118	ENSG00000205981	30528	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJC19	None	None	3179	74
DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	Shwachman-Diamond syndrome?0004863	https://raresource.nih.gov/literature/gene/DNAJC21	134218	ENSG00000168724	27030	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJC21	None	None	12991	153
DNAJC30	DnaJ heat shock protein family (Hsp40) member C30	Williams syndrome?0007891;Leber hereditary optic neuropathy?0006870	https://raresource.nih.gov/literature/gene/DNAJC30	84277	ENSG00000176410	16410	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJC30	None	None	1777	27
DNAJC5	DnaJ heat shock protein family (Hsp40) member C5	CLN4B disease?0001222	https://raresource.nih.gov/literature/gene/DNAJC5	80331	ENSG00000101152	16235	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJC5	None	None	14560	1573
DNAL1	dynein axonemal light chain 1	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	229
DNAL4	dynein axonemal light chain 4	Familial congenital mirror movements?0012551	https://raresource.nih.gov/literature/gene/DNAL4	10126	ENSG00000100246	2955	https://pubmed.ncbi.nlm.nih.gov/?term=DNAL4	None	None	181	30
DNASE1L3	deoxyribonuclease 1 like 3	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	305
DNHD1	dynein heavy chain domain 1	Male infertility due to large-headed multiflagellar polyploid spermatozoa?0012385	https://raresource.nih.gov/literature/gene/DNHD1	144132	ENSG00000179532	26532	https://pubmed.ncbi.nlm.nih.gov/?term=DNHD1	None	None	28933	10
DNM1	dynamin 1	Lennox-Gastaut syndrome?0009912	https://raresource.nih.gov/literature/gene/DNM1	1759	ENSG00000106976	2972	https://pubmed.ncbi.nlm.nih.gov/?term=DNM1	None	None	19898	512
DNM1L	dynamin 1 like	Optic atrophy 5?0010201;Autosomal dominant optic atrophy, classic form?0009890	https://raresource.nih.gov/literature/gene/DNM1L	10059	ENSG00000087470	2973	https://pubmed.ncbi.nlm.nih.gov/?term=DNM1L	None	None	20245	3578
DNM2	dynamin 2	Autosomal dominant centronuclear myopathy?0012719	https://raresource.nih.gov/literature/gene/DNM2	1785	ENSG00000079805	2974	https://pubmed.ncbi.nlm.nih.gov/?term=DNM2	None	None	33045	755
DNMBP	dynamin binding protein	Total early-onset cataract?0001159	https://raresource.nih.gov/literature/gene/DNMBP	23268	ENSG00000107554	30373	https://pubmed.ncbi.nlm.nih.gov/?term=DNMBP	None	None	49437	138
DNMT1	DNA methyltransferase 1	Hereditary sensory neuropathy-deafness-dementia syndrome?0011927;Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome?0012372	https://raresource.nih.gov/literature/gene/DNMT1	1786	ENSG00000130816	2976	https://pubmed.ncbi.nlm.nih.gov/?term=DNMT1	None	None	20360	6052
DNMT3A	DNA methyltransferase 3 alpha	Sporadic pheochromocytoma/secreting paraganglioma?0007385	https://raresource.nih.gov/literature/gene/DNMT3A	1788	ENSG00000119772	2978	https://pubmed.ncbi.nlm.nih.gov/?term=DNMT3A	None	None	57552	4269
DNMT3B	DNA methyltransferase 3 beta	Facioscapulohumeral dystrophy?0009941;ICF syndrome?0002945	https://raresource.nih.gov/literature/gene/DNMT3B	1789	ENSG00000088305	2979	https://pubmed.ncbi.nlm.nih.gov/?term=DNMT3B	None	None	13592	2452
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	197
DOCK6	dedicator of cytokinesis 6	Adams-Oliver syndrome?0005739	https://raresource.nih.gov/literature/gene/DOCK6	57572	ENSG00000130158	19189	https://pubmed.ncbi.nlm.nih.gov/?term=DOCK6	None	None	20217	77
DOCK8	dedicator of cytokinesis 8	Autosomal dominant non-syndromic intellectual disability?0012107;Combined immunodeficiency due to DOCK8 deficiency?0002816	https://raresource.nih.gov/literature/gene/DOCK8	81704	ENSG00000107099	19191	https://pubmed.ncbi.nlm.nih.gov/?term=DOCK8	None	None	125329	391
DOK7	docking protein 7	Fetal akinesia deformation sequence?0009634	https://raresource.nih.gov/literature/gene/DOK7	285489	ENSG00000175920	26594	https://pubmed.ncbi.nlm.nih.gov/?term=DOK7	None	None	26742	219
DOLK	dolichol kinase	Familial isolated dilated cardiomyopathy?0002905;DK1-CDG?0012393	https://raresource.nih.gov/literature/gene/DOLK	22845	ENSG00000175283	23406	https://pubmed.ncbi.nlm.nih.gov/?term=DOLK	None	None	1797	170
DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	DPAGT1-CDG?0009837	https://raresource.nih.gov/literature/gene/DPAGT1	1798	ENSG00000172269	2995	https://pubmed.ncbi.nlm.nih.gov/?term=DPAGT1	None	None	2891	3033
DPF2	double PHD fingers 2	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	60
DPM1	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	DPM1-CDG?0009831	https://raresource.nih.gov/literature/gene/DPM1	8813	ENSG00000000419	3005	https://pubmed.ncbi.nlm.nih.gov/?term=DPM1	None	None	6426	90
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	41
DPM3	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	DPM3-CDG?0012395	https://raresource.nih.gov/literature/gene/DPM3	54344	ENSG00000179085	3007	https://pubmed.ncbi.nlm.nih.gov/?term=DPM3	None	None	1127	33
DPP6	dipeptidyl peptidase like 6	Idiopathic ventricular fibrillation, non Brugada type?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	269
DPP9	dipeptidyl peptidase 9	Idiopathic pulmonary fibrosis?0008609	https://raresource.nih.gov/literature/gene/DPP9	91039	ENSG00000142002	18648	https://pubmed.ncbi.nlm.nih.gov/?term=DPP9	None	None	20655	223
DPY19L2	dpy-19 like 2	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	76
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	2255
DPYS	dihydropyrimidinase	Dihydropyrimidinuria?0012347	https://raresource.nih.gov/literature/gene/DPYS	1807	ENSG00000147647	3013	https://pubmed.ncbi.nlm.nih.gov/?term=DPYS	None	None	42778	336
DRAM2	DNA damage regulated autophagy modulator 2	Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/DRAM2	128338	ENSG00000156171	28769	https://pubmed.ncbi.nlm.nih.gov/?term=DRAM2	None	None	9275	30
DRC1	dynein regulatory complex subunit 1	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	57
DRD2	dopamine receptor D2	Myoclonus-dystonia syndrome?0007139	https://raresource.nih.gov/literature/gene/DRD2	1813	ENSG00000149295	3023	https://pubmed.ncbi.nlm.nih.gov/?term=DRD2	None	None	21482	7525
DSE	dermatan sulfate epimerase	Musculocontractural Ehlers-Danlos syndrome?0008486	https://raresource.nih.gov/literature/gene/DSE	29940	ENSG00000111817	21144	https://pubmed.ncbi.nlm.nih.gov/?term=DSE	None	None	69094	65
DSG1	desmoglein 1	Palmoplantar keratoderma i, striate, focal, or diffuse?0009172	https://raresource.nih.gov/literature/gene/DSG1	1828	ENSG00000134760	3048	https://pubmed.ncbi.nlm.nih.gov/?term=DSG1	None	None	12562	1139
DSG2	desmoglein 2	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/DSG2	1829	ENSG00000046604	3049	https://pubmed.ncbi.nlm.nih.gov/?term=DSG2	None	None	13096	547
DSG4	desmoglein 4	Hypotrichosis simplex?0009170;Monilethrix?0000093	https://raresource.nih.gov/literature/gene/DSG4	147409	ENSG00000175065	21307	https://pubmed.ncbi.nlm.nih.gov/?term=DSG4	None	None	10060	104
DSP	desmoplakin	Familial isolated dilated cardiomyopathy?0002905;Idiopathic pulmonary fibrosis?0008609;Skin fragility-woolly hair-palmoplantar keratoderma syndrome?0005231;Carvajal syndrome?0005595;Lethal acantholytic erosive disorder?0009910	https://raresource.nih.gov/literature/gene/DSP	1832	ENSG00000096696	3052	https://pubmed.ncbi.nlm.nih.gov/?term=DSP	None	None	21468	2327
DSPP	dentin sialophosphoprotein	Dentinogenesis imperfecta type 2?0012796;Dentin dysplasia type I?0001807;Dentinogenesis imperfecta type 3?0010144;Dentin dysplasia type II?0001806	https://raresource.nih.gov/literature/gene/DSPP	1834	ENSG00000152591	3054	https://pubmed.ncbi.nlm.nih.gov/?term=DSPP	None	None	6074	3305
DSTYK	dual serine/threonine and tyrosine protein kinase	Autosomal recessive spastic paraplegia type 23?0000336	https://raresource.nih.gov/literature/gene/DSTYK	25778	ENSG00000133059	29043	https://pubmed.ncbi.nlm.nih.gov/?term=DSTYK	None	None	28389	38
DTNA	dystrobrevin alpha	Left ventricular noncompaction?0010985	https://raresource.nih.gov/literature/gene/DTNA	1837	ENSG00000134769	3057	https://pubmed.ncbi.nlm.nih.gov/?term=DTNA	None	None	88596	77
DUSP6	dual specificity phosphatase 6	Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/DUSP6	1848	ENSG00000139318	3072	https://pubmed.ncbi.nlm.nih.gov/?term=DUSP6	None	None	3054	671
DUX4	double homeobox 4	Facioscapulohumeral dystrophy?0009941	https://raresource.nih.gov/literature/gene/DUX4	100288687	ENSG00000260596	50800	https://pubmed.ncbi.nlm.nih.gov/?term=DUX4	None	None	24155	555
DUX4L1	double homeobox 4 like 1 (pseudogene)	Facioscapulohumeral dystrophy?0009941	https://raresource.nih.gov/literature/gene/DUX4L1	22947	ENSG00000280757	3082	https://pubmed.ncbi.nlm.nih.gov/?term=DUX4L1	None	None	None	482
DYM	dymeclin	Smith-McCort dysplasia?0010620;Dyggve-Melchior-Clausen disease?0006295	https://raresource.nih.gov/literature/gene/DYM	54808	ENSG00000141627	21317	https://pubmed.ncbi.nlm.nih.gov/?term=DYM	None	None	107453	622
DYNC1H1	dynein cytoplasmic 1 heavy chain 1	Autosomal dominant non-syndromic intellectual disability?0012107;DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy?0013519	https://raresource.nih.gov/literature/gene/DYNC1H1	1778	ENSG00000197102	2961	https://pubmed.ncbi.nlm.nih.gov/?term=DYNC1H1	None	None	29951	1306
DYNC2H1	dynein cytoplasmic 2 heavy chain 1	Jeune syndrome?0003049;Short rib-polydactyly syndrome, Verma-Naumoff type?0004835;Short rib-polydactyly syndrome, Majewski type?0004833;Short rib-polydactyly syndrome, Saldino-Noonan type?0004834	https://raresource.nih.gov/literature/gene/DYNC2H1	79659	ENSG00000187240	2962	https://pubmed.ncbi.nlm.nih.gov/?term=DYNC2H1	None	None	89777	134
DYNC2I1	dynein 2 intermediate chain 1	Jeune syndrome?0003049;Short rib-polydactyly syndrome, Verma-Naumoff type?0004835	https://raresource.nih.gov/literature/gene/DYNC2I1	55112	ENSG00000126870	21862	https://pubmed.ncbi.nlm.nih.gov/?term=DYNC2I1	None	None	None	30
DYNC2I2	dynein 2 intermediate chain 2	Jeune syndrome?0003049;Short rib-polydactyly syndrome, Verma-Naumoff type?0004835	https://raresource.nih.gov/literature/gene/DYNC2I2	89891	ENSG00000119333	28296	https://pubmed.ncbi.nlm.nih.gov/?term=DYNC2I2	None	None	None	35
DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	Jeune syndrome?0003049;Ellis Van Creveld syndrome?0001301	https://raresource.nih.gov/literature/gene/DYNC2LI1	51626	ENSG00000138036	24595	https://pubmed.ncbi.nlm.nih.gov/?term=DYNC2LI1	None	None	15155	37
DYSF	dysferlin	Miyoshi myopathy?0009676;Dysferlin-related limb-girdle muscular dystrophy R2?0008574	https://raresource.nih.gov/literature/gene/DYSF	8291	ENSG00000135636	3097	https://pubmed.ncbi.nlm.nih.gov/?term=DYSF	None	None	98298	806
DZIP1L	DAZ interacting zinc finger protein 1 like	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	29
EARS2	glutamyl-tRNA synthetase 2, mitochondrial	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome?0012893	https://raresource.nih.gov/literature/gene/EARS2	124454	ENSG00000103356	29419	https://pubmed.ncbi.nlm.nih.gov/?term=EARS2	None	None	11166	400
EBP	EBP cholestenol delta-isomerase	X-linked dominant chondrodysplasia punctata?0006189	https://raresource.nih.gov/literature/gene/EBP	10682	ENSG00000147155	3133	https://pubmed.ncbi.nlm.nih.gov/?term=EBP	None	None	89	10139
ECE1	endothelin converting enzyme 1	Hirschsprung disease?0006660	https://raresource.nih.gov/literature/gene/ECE1	1889	ENSG00000117298	3146	https://pubmed.ncbi.nlm.nih.gov/?term=ECE1	None	None	49677	1047
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	160
ECM1	extracellular matrix protein 1	Lipoid proteinosis?0003268	https://raresource.nih.gov/literature/gene/ECM1	1893	ENSG00000143369	3153	https://pubmed.ncbi.nlm.nih.gov/?term=ECM1	None	None	3336	355
EDA	ectodysplasin A	X-linked hypohidrotic ectodermal dysplasia?0010427	https://raresource.nih.gov/literature/gene/EDA	1896	ENSG00000158813	3157	https://pubmed.ncbi.nlm.nih.gov/?term=EDA	None	None	74807	2095
EDA2R	ectodysplasin A2 receptor	X-linked hypohidrotic ectodermal dysplasia?0010427	https://raresource.nih.gov/literature/gene/EDA2R	60401	ENSG00000131080	17756	https://pubmed.ncbi.nlm.nih.gov/?term=EDA2R	None	None	8906	98
EDAR	ectodysplasin A receptor	Autosomal recessive hypohidrotic ectodermal dysplasia?0002057;Autosomal dominant hypohidrotic ectodermal dysplasia?0002048	https://raresource.nih.gov/literature/gene/EDAR	10913	ENSG00000135960	2895	https://pubmed.ncbi.nlm.nih.gov/?term=EDAR	None	None	35730	731
EDARADD	EDAR associated death domain	Autosomal recessive hypohidrotic ectodermal dysplasia?0002057;Autosomal dominant hypohidrotic ectodermal dysplasia?0002048	https://raresource.nih.gov/literature/gene/EDARADD	128178	ENSG00000186197	14341	https://pubmed.ncbi.nlm.nih.gov/?term=EDARADD	None	None	68551	1752
EDN1	endothelin 1	Auriculocondylar syndrome?0009798	https://raresource.nih.gov/literature/gene/EDN1	1906	ENSG00000078401	3176	https://pubmed.ncbi.nlm.nih.gov/?term=EDN1	None	None	4093	17928
EDN3	endothelin 3	Hirschsprung disease?0006660;Waardenburg-Shah syndrome?0005524;Congenital central hypoventilation syndrome?0008535	https://raresource.nih.gov/literature/gene/EDN3	1908	ENSG00000124205	3178	https://pubmed.ncbi.nlm.nih.gov/?term=EDN3	None	None	8200	1654
EDNRA	endothelin receptor type A	Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/EDNRA	1909	ENSG00000151617	3179	https://pubmed.ncbi.nlm.nih.gov/?term=EDNRA	None	None	23912	13965
EDNRB	endothelin receptor type B	Waardenburg syndrome type 2?0005520;Hirschsprung disease?0006660;Waardenburg-Shah syndrome?0005524	https://raresource.nih.gov/literature/gene/EDNRB	1910	ENSG00000136160	3180	https://pubmed.ncbi.nlm.nih.gov/?term=EDNRB	None	None	21155	2697
EED	embryonic ectoderm development	Weaver syndrome?0007878	https://raresource.nih.gov/literature/gene/EED	8726	ENSG00000074266	3188	https://pubmed.ncbi.nlm.nih.gov/?term=EED	None	None	12861	549
EEF1A2	eukaryotic translation elongation factor 1 alpha 2	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	1091
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	1829
EFEMP1	EGF containing fibulin extracellular matrix protein 1	Familial drusen?0001912	https://raresource.nih.gov/literature/gene/EFEMP1	2202	ENSG00000115380	3218	https://pubmed.ncbi.nlm.nih.gov/?term=EFEMP1	None	None	21937	417
EFEMP2	EGF containing fibulin extracellular matrix protein 2	Autosomal recessive cutis laxa type 1?0008480	https://raresource.nih.gov/literature/gene/EFEMP2	30008	ENSG00000172638	3219	https://pubmed.ncbi.nlm.nih.gov/?term=EFEMP2	None	None	3669	280
EFHC1	EF-hand domain containing 1	Juvenile absence epilepsy?0002162;Juvenile myoclonic epilepsy?0006808	https://raresource.nih.gov/literature/gene/EFHC1	114327	ENSG00000096093	16406	https://pubmed.ncbi.nlm.nih.gov/?term=EFHC1	None	None	57773	86
EFL1	elongation factor like GTPase 1	Shwachman-Diamond syndrome?0004863	https://raresource.nih.gov/literature/gene/EFL1	79631	ENSG00000140598	25789	https://pubmed.ncbi.nlm.nih.gov/?term=EFL1	None	None	41701	67
EFNB1	ephrin B1	Craniofrontonasal dysplasia?0001578	https://raresource.nih.gov/literature/gene/EFNB1	1947	ENSG00000090776	3226	https://pubmed.ncbi.nlm.nih.gov/?term=EFNB1	None	None	3152	405
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	142
EGF	epidermal growth factor	Adult hepatocellular carcinoma?0006608	https://raresource.nih.gov/literature/gene/EGF	1950	ENSG00000138798	3229	https://pubmed.ncbi.nlm.nih.gov/?term=EGF	None	None	38084	42236
EGFR	epidermal growth factor receptor	Gliosarcoma?0005653	https://raresource.nih.gov/literature/gene/EGFR	1956	ENSG00000146648	3236	https://pubmed.ncbi.nlm.nih.gov/?term=EGFR	None	None	82716	69886
EGR2	early growth response 2	Dejerine-Sottas syndrome?0009204	https://raresource.nih.gov/literature/gene/EGR2	1959	ENSG00000122877	3239	https://pubmed.ncbi.nlm.nih.gov/?term=EGR2	None	None	16565	1115
EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	Primary Fanconi renotubular syndrome?0009118;Bifunctional enzyme deficiency?0004539	https://raresource.nih.gov/literature/gene/EHHADH	1962	ENSG00000113790	3247	https://pubmed.ncbi.nlm.nih.gov/?term=EHHADH	None	None	34530	1935
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	329
EIF2AK2	eukaryotic translation initiation factor 2 alpha kinase 2	Early-onset generalized limb-onset dystonia?0002027	https://raresource.nih.gov/literature/gene/EIF2AK2	5610	ENSG00000055332	9437	https://pubmed.ncbi.nlm.nih.gov/?term=EIF2AK2	None	None	25256	3185
EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	Wolcott-Rallison syndrome?0005589	https://raresource.nih.gov/literature/gene/EIF2AK3	9451	ENSG00000172071	3255	https://pubmed.ncbi.nlm.nih.gov/?term=EIF2AK3	None	None	26096	6166
EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	Pulmonary venoocclusive disease?0010153	https://raresource.nih.gov/literature/gene/EIF2AK4	440275	ENSG00000128829	19687	https://pubmed.ncbi.nlm.nih.gov/?term=EIF2AK4	None	None	25841	895
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	3846
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	367
EIF4H	eukaryotic translation initiation factor 4H	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/EIF4H	7458	ENSG00000106682	12741	https://pubmed.ncbi.nlm.nih.gov/?term=EIF4H	None	None	10697	70
ELAC2	elaC ribonuclease Z 2	Familial prostate cancer?0004520	https://raresource.nih.gov/literature/gene/ELAC2	60528	ENSG00000006744	14198	https://pubmed.ncbi.nlm.nih.gov/?term=ELAC2	None	None	8494	161
ELANE	elastase, neutrophil expressed	Cyclic neutropenia?0006229;Autosomal dominant severe congenital neutropenia?0009558	https://raresource.nih.gov/literature/gene/ELANE	1991	ENSG00000197561	3309	https://pubmed.ncbi.nlm.nih.gov/?term=ELANE	None	None	3810	7322
ELMO2	engulfment and cell motility 2	Ramon syndrome?0007523	https://raresource.nih.gov/literature/gene/ELMO2	63916	ENSG00000062598	17233	https://pubmed.ncbi.nlm.nih.gov/?term=ELMO2	None	None	14608	79
ELN	elastin	Williams syndrome?0007891;Supravalvular aortic stenosis?0000743;Autosomal dominant cutis laxa?0001639;Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/ELN	2006	ENSG00000049540	3327	https://pubmed.ncbi.nlm.nih.gov/?term=ELN	None	None	18653	12575
ELOVL4	ELOVL fatty acid elongase 4	Spinocerebellar ataxia type 34?0000059;Stargardt disease?0000181	https://raresource.nih.gov/literature/gene/ELOVL4	6785	ENSG00000118402	14415	https://pubmed.ncbi.nlm.nih.gov/?term=ELOVL4	None	None	13319	252
ELP1	elongator complex protein 1	Familial dysautonomia?0007581	https://raresource.nih.gov/literature/gene/ELP1	8518	ENSG00000070061	5959	https://pubmed.ncbi.nlm.nih.gov/?term=ELP1	None	None	27130	1063
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	83
EML1	EMAP like 1	Band heterotopia?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	185
EMP2	epithelial membrane protein 2	Genetic 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	122
ENAM	enamelin	Hypoplastic amelogenesis imperfecta?0000645	https://raresource.nih.gov/literature/gene/ENAM	10117	ENSG00000132464	3344	https://pubmed.ncbi.nlm.nih.gov/?term=ENAM	None	None	8657	342
ENG	endoglin	Hereditary hemorrhagic telangiectasia?0006626	https://raresource.nih.gov/literature/gene/ENG	2022	ENSG00000106991	3349	https://pubmed.ncbi.nlm.nih.gov/?term=ENG	None	None	17486	2984
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	273
ENPP1	ectonucleotide pyrophosphatase/phosphodiesterase 1	Pseudoxanthoma elasticum?0009643;Generalized arterial calcification of infancy?0008380;Hypopigmentation-punctate palmoplantar keratoderma syndrome?0012384	https://raresource.nih.gov/literature/gene/ENPP1	5167	ENSG00000197594	3356	https://pubmed.ncbi.nlm.nih.gov/?term=ENPP1	None	None	35481	1123
EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	Adams-Oliver syndrome?0005739	https://raresource.nih.gov/literature/gene/EOGT	285203	ENSG00000163378	28526	https://pubmed.ncbi.nlm.nih.gov/?term=EOGT	None	None	17902	45
EPAS1	endothelial PAS domain protein 1	Sporadic pheochromocytoma/secreting paraganglioma?0007385	https://raresource.nih.gov/literature/gene/EPAS1	2034	ENSG00000116016	3374	https://pubmed.ncbi.nlm.nih.gov/?term=EPAS1	None	None	40039	1427
EPB41	erythrocyte membrane protein band 4.1	Hereditary elliptocytosis?0006621	https://raresource.nih.gov/literature/gene/EPB41	2035	ENSG00000159023	3377	https://pubmed.ncbi.nlm.nih.gov/?term=EPB41	None	None	89439	1208
EPB41L1	erythrocyte membrane protein band 4.1 like 1	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/EPB41L1	2036	ENSG00000088367	3378	https://pubmed.ncbi.nlm.nih.gov/?term=EPB41L1	None	None	31011	73
EPB42	erythrocyte membrane protein band 4.2	Hereditary spherocytosis?0006639	https://raresource.nih.gov/literature/gene/EPB42	2038	ENSG00000166947	3381	https://pubmed.ncbi.nlm.nih.gov/?term=EPB42	None	None	6007	4283
EPCAM	epithelial cell adhesion molecule	Congenital tufting enteropathy?0010630;Lynch syndrome?0009905	https://raresource.nih.gov/literature/gene/EPCAM	4072	ENSG00000119888	11529	https://pubmed.ncbi.nlm.nih.gov/?term=EPCAM	None	None	35872	5269
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	71
EPHA2	EPH receptor A2	Total early-onset cataract?0001159	https://raresource.nih.gov/literature/gene/EPHA2	1969	ENSG00000142627	3386	https://pubmed.ncbi.nlm.nih.gov/?term=EPHA2	None	None	14442	1542
EPHA4	EPH receptor A4	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/EPHA4	2043	ENSG00000116106	3388	https://pubmed.ncbi.nlm.nih.gov/?term=EPHA4	None	None	59179	846
EPHB2	EPH receptor B2	Familial prostate cancer?0004520	https://raresource.nih.gov/literature/gene/EPHB2	2048	ENSG00000133216	3393	https://pubmed.ncbi.nlm.nih.gov/?term=EPHB2	None	None	75245	45294
EPHB4	EPH receptor B4	Meige disease?0003324;Vein of Galen aneurysmal malformation?0005467;Capillary malformation-arteriovenous malformation?0011904	https://raresource.nih.gov/literature/gene/EPHB4	2050	ENSG00000196411	3395	https://pubmed.ncbi.nlm.nih.gov/?term=EPHB4	None	None	11931	817
EPM2A	EPM2A glucan phosphatase, laforin	Lafora disease?0008214	https://raresource.nih.gov/literature/gene/EPM2A	7957	ENSG00000112425	3413	https://pubmed.ncbi.nlm.nih.gov/?term=EPM2A	None	None	43364	313
EPOR	erythropoietin receptor	Primary familial polycythemia?0009843	https://raresource.nih.gov/literature/gene/EPOR	2057	ENSG00000187266	3416	https://pubmed.ncbi.nlm.nih.gov/?term=EPOR	None	None	3235	2350
EPS15L1	epidermal growth factor receptor pathway substrate 15 like 1	Isolated split hand-split foot malformation?0006319	https://raresource.nih.gov/literature/gene/EPS15L1	58513	ENSG00000127527	24634	https://pubmed.ncbi.nlm.nih.gov/?term=EPS15L1	None	None	41759	42
EPS8L3	EPS8 like 3	Marie Unna hereditary hypotrichosis?0003390	https://raresource.nih.gov/literature/gene/EPS8L3	79574	ENSG00000198758	21297	https://pubmed.ncbi.nlm.nih.gov/?term=EPS8L3	None	None	5950	15
ERAL1	Era like 12S mitochondrial rRNA chaperone 1	Perrault syndrome?0002542	https://raresource.nih.gov/literature/gene/ERAL1	26284	ENSG00000132591	3424	https://pubmed.ncbi.nlm.nih.gov/?term=ERAL1	None	None	2977	384
ERAP1	endoplasmic reticulum aminopeptidase 1	Behçet disease?0000848	https://raresource.nih.gov/literature/gene/ERAP1	51752	ENSG00000164307	18173	https://pubmed.ncbi.nlm.nih.gov/?term=ERAP1	None	None	17156	560
ERBB2	erb-b2 receptor tyrosine kinase 2	Hirschsprung disease?0006660	https://raresource.nih.gov/literature/gene/ERBB2	2064	ENSG00000141736	3430	https://pubmed.ncbi.nlm.nih.gov/?term=ERBB2	None	None	22129	50901
ERBB3	erb-b2 receptor tyrosine kinase 3	Hirschsprung disease?0006660;Lethal congenital contracture syndrome type 2?0009177	https://raresource.nih.gov/literature/gene/ERBB3	2065	ENSG00000065361	3431	https://pubmed.ncbi.nlm.nih.gov/?term=ERBB3	None	None	12499	3623
ERBB4	erb-b2 receptor tyrosine kinase 4	Autosomal dominant non-syndromic intellectual disability?0012107;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	2397
ERC1	ELKS/RAB6-interacting/CAST family member 1	Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/ERC1	23085	ENSG00000082805	17072	https://pubmed.ncbi.nlm.nih.gov/?term=ERC1	None	None	179861	157
ERCC1	ERCC excision repair 1, endonuclease non-catalytic subunit	COFS syndrome?0006027;Cockayne syndrome type 2?0001420	https://raresource.nih.gov/literature/gene/ERCC1	2067	ENSG00000012061	3433	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC1	None	None	24963	2600
ERCC2	ERCC excision repair 2, TFIIH core complex helicase subunit	Trichothiodystrophy?0012109;Xeroderma pigmentosum?0007910;COFS syndrome?0006027	https://raresource.nih.gov/literature/gene/ERCC2	2068	ENSG00000104884	3434	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC2	None	None	10162	2418
ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	Trichothiodystrophy?0012109;Xeroderma pigmentosum?0007910	https://raresource.nih.gov/literature/gene/ERCC3	2071	ENSG00000163161	3435	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC3	None	None	17400	1227
ERCC4	ERCC excision repair 4, endonuclease catalytic subunit	Fanconi anemia?0006425;Xeroderma pigmentosum?0007910;Cockayne syndrome type 1?0001415	https://raresource.nih.gov/literature/gene/ERCC4	2072	ENSG00000175595	3436	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC4	None	None	12124	1367
ERCC5	ERCC excision repair 5, endonuclease	Xeroderma pigmentosum?0007910;COFS syndrome?0006027	https://raresource.nih.gov/literature/gene/ERCC5	2073	ENSG00000134899	3437	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC5	None	None	8329	771
ERCC6	ERCC excision repair 6, chromatin remodeling factor	Cockayne syndrome type 1?0001415;UV-sensitive syndrome?0010947;COFS syndrome?0006027;Cockayne syndrome type 2?0001420;Cockayne syndrome type 3?0001417	https://raresource.nih.gov/literature/gene/ERCC6	2074	ENSG00000225830	3438	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC6	None	None	37934	678
ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	Cockayne syndrome type 3?0001417;UV-sensitive syndrome?0010947;Cockayne syndrome type 1?0001415;Cockayne syndrome type 2?0001420	https://raresource.nih.gov/literature/gene/ERCC8	1161	ENSG00000049167	3439	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC8	None	None	29233	685
ERF	ETS2 repressor factor	Crouzon syndrome?0006206	https://raresource.nih.gov/literature/gene/ERF	2077	ENSG00000105722	3444	https://pubmed.ncbi.nlm.nih.gov/?term=ERF	None	None	4541	2142
ERG	ETS transcription factor ERG	Skeletal Ewing sarcoma?0006390	https://raresource.nih.gov/literature/gene/ERG	2078	ENSG00000157554	3446	https://pubmed.ncbi.nlm.nih.gov/?term=ERG	None	None	89369	12
ERGIC1	endoplasmic reticulum-golgi intermediate compartment 1	Neurogenic arthrogryposis multiplex congenita?0000790	https://raresource.nih.gov/literature/gene/ERGIC1	57222	ENSG00000113719	29205	https://pubmed.ncbi.nlm.nih.gov/?term=ERGIC1	None	None	46888	16
ERLIN2	ER lipid raft associated 2	Autosomal recessive spastic paraplegia type 18?0004922;Juvenile primary lateral sclerosis?0004485	https://raresource.nih.gov/literature/gene/ERLIN2	11160	ENSG00000147475	1356	https://pubmed.ncbi.nlm.nih.gov/?term=ERLIN2	None	None	9231	79
ERMARD	ER membrane associated RNA degradation	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	7
ESCO2	establishment of sister chromatid cohesion N-acetyltransferase 2	Roberts syndrome?0007387	https://raresource.nih.gov/literature/gene/ESCO2	157570	ENSG00000171320	27230	https://pubmed.ncbi.nlm.nih.gov/?term=ESCO2	None	None	17858	195
ESPN	espin	Usher syndrome type 1?0005435	https://raresource.nih.gov/literature/gene/ESPN	83715	ENSG00000187017	13281	https://pubmed.ncbi.nlm.nih.gov/?term=ESPN	None	None	15518	107
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	105
ETV1	ETS variant transcription factor 1	Skeletal Ewing sarcoma?0006390	https://raresource.nih.gov/literature/gene/ETV1	2115	ENSG00000006468	3490	https://pubmed.ncbi.nlm.nih.gov/?term=ETV1	None	None	42724	495
ETV4	ETS variant transcription factor 4	Skeletal Ewing sarcoma?0006390	https://raresource.nih.gov/literature/gene/ETV4	2118	ENSG00000175832	3493	https://pubmed.ncbi.nlm.nih.gov/?term=ETV4	None	None	7108	769
ETV6	ETS variant transcription factor 6	Congenital mesoblastic nephroma?0001493;Fibrosarcoma?0002327;Chronic myelomonocytic leukemia?0008225;Familial platelet disorder with associated myeloid malignancy?0010352;Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/ETV6	2120	ENSG00000139083	3495	https://pubmed.ncbi.nlm.nih.gov/?term=ETV6	None	None	64679	2505
EVC	EvC ciliary complex subunit 1	Acrofacial dysostosis, Weyers type?0000497;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	108
EVC2	EvC ciliary complex subunit 2	Acrofacial dysostosis, Weyers type?0000497;Ellis Van Creveld syndrome?0001301	https://raresource.nih.gov/literature/gene/EVC2	132884	ENSG00000173040	19747	https://pubmed.ncbi.nlm.nih.gov/?term=EVC2	None	None	72754	109
EWSR1	EWS RNA binding protein 1	Desmoplastic small round cell tumor?0006265;Skeletal Ewing sarcoma?0006390	https://raresource.nih.gov/literature/gene/EWSR1	2130	ENSG00000182944	3508	https://pubmed.ncbi.nlm.nih.gov/?term=EWSR1	None	None	10582	2778
EXOC6B	exocyst complex component 6B	Spondyloepimetaphyseal dysplasia with joint laxity?0004982	https://raresource.nih.gov/literature/gene/EXOC6B	23233	ENSG00000144036	17085	https://pubmed.ncbi.nlm.nih.gov/?term=EXOC6B	None	None	224338	27
EXOSC3	exosome component 3	Pontocerebellar hypoplasia type 1?0010704	https://raresource.nih.gov/literature/gene/EXOSC3	51010	ENSG00000107371	17944	https://pubmed.ncbi.nlm.nih.gov/?term=EXOSC3	None	None	3284	681
EXOSC8	exosome component 8	Pontocerebellar hypoplasia type 1?0010704	https://raresource.nih.gov/literature/gene/EXOSC8	11340	ENSG00000120699	17035	https://pubmed.ncbi.nlm.nih.gov/?term=EXOSC8	None	None	2225	191
EXOSC9	exosome component 9	Pontocerebellar hypoplasia type 1?0010704	https://raresource.nih.gov/literature/gene/EXOSC9	5393	ENSG00000123737	9137	https://pubmed.ncbi.nlm.nih.gov/?term=EXOSC9	None	None	6668	1068
EXT1	exostosin glycosyltransferase 1	Chondrosarcoma?0006055;Multiple osteochondromas?0007035;Exostoses, multiple, type i?0002204;Trichorhinophalangeal syndrome type 2?0007801	https://raresource.nih.gov/literature/gene/EXT1	2131	ENSG00000182197	3512	https://pubmed.ncbi.nlm.nih.gov/?term=EXT1	None	None	138045	696
EXT2	exostosin glycosyltransferase 2	Multiple osteochondromas?0007035;Potocki-Shaffer syndrome?0009762;Exostoses, multiple, type ii?0002205	https://raresource.nih.gov/literature/gene/EXT2	2132	ENSG00000151348	3513	https://pubmed.ncbi.nlm.nih.gov/?term=EXT2	None	None	59073	407
EXT3	Exostoses, multiple, 3	Exostoses, multiple, type iii?0002206	https://raresource.nih.gov/literature/gene/EXT3	2133			https://pubmed.ncbi.nlm.nih.gov/?term=EXT3	None	None	None	346
EYA1	EYA transcriptional coactivator and phosphatase 1	Otofaciocervical syndrome?0004169;BOR 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	543
EYS	eyes shut homolog	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/EYS	346007	ENSG00000188107	21555	https://pubmed.ncbi.nlm.nih.gov/?term=EYS	None	None	816328	193
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	585
F10	coagulation factor X	Congenital factor X deficiency?0006404	https://raresource.nih.gov/literature/gene/F10	2159	ENSG00000126218	3528	https://pubmed.ncbi.nlm.nih.gov/?term=F10	None	None	9033	11297
F11	coagulation factor XI	Congenital factor XI deficiency?0009670	https://raresource.nih.gov/literature/gene/F11	2160	ENSG00000088926	3529	https://pubmed.ncbi.nlm.nih.gov/?term=F11	None	None	10738	1870
F12	coagulation factor XII	Congenital factor XII deficiency?0006558	https://raresource.nih.gov/literature/gene/F12	2161	ENSG00000131187	3530	https://pubmed.ncbi.nlm.nih.gov/?term=F12	None	None	4404	1174
F13A1	coagulation factor XIII A chain	Congenital factor XIII deficiency?0010766	https://raresource.nih.gov/literature/gene/F13A1	2162	ENSG00000124491	3531	https://pubmed.ncbi.nlm.nih.gov/?term=F13A1	None	None	69814	436
F13B	coagulation factor XIII B chain	Congenital factor XIII deficiency?0010766	https://raresource.nih.gov/literature/gene/F13B	2165	ENSG00000143278	3534	https://pubmed.ncbi.nlm.nih.gov/?term=F13B	None	None	12041	950
F2	coagulation factor II, thrombin	Congenital factor II deficiency?0002926	https://raresource.nih.gov/literature/gene/F2	2147	ENSG00000180210	3535	https://pubmed.ncbi.nlm.nih.gov/?term=F2	None	None	9945	579
F5	coagulation factor V	Budd-Chiari syndrome?0005968;Congenital factor V deficiency?0002237	https://raresource.nih.gov/literature/gene/F5	2153	ENSG00000198734	3542	https://pubmed.ncbi.nlm.nih.gov/?term=F5	None	None	29190	4505
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	37
FA2H	fatty acid 2-hydroxylase	Autosomal recessive spastic paraplegia type 35?0010538;Fatty acid hydroxylase-associated neurodegeneration?0010810	https://raresource.nih.gov/literature/gene/FA2H	79152	ENSG00000103089	21197	https://pubmed.ncbi.nlm.nih.gov/?term=FA2H	None	None	19840	2116
FAH	fumarylacetoacetate hydrolase	Tyrosinemia type 1?0002658	https://raresource.nih.gov/literature/gene/FAH	2184	ENSG00000103876	3579	https://pubmed.ncbi.nlm.nih.gov/?term=FAH	None	None	12257	587
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	68
FAM111B	FAM111 trypsin like peptidase B	Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome?0013218	https://raresource.nih.gov/literature/gene/FAM111B	374393	ENSG00000189057	24200	https://pubmed.ncbi.nlm.nih.gov/?term=FAM111B	None	None	8500	222
FAM13A	family with sequence similarity 13 member A	Idiopathic pulmonary fibrosis?0008609	https://raresource.nih.gov/literature/gene/FAM13A	10144	ENSG00000138640	19367	https://pubmed.ncbi.nlm.nih.gov/?term=FAM13A	None	None	136943	140
FAM149B1	family with sequence similarity 149 member B1	Orofaciodigital syndrome type 6?0004412	https://raresource.nih.gov/literature/gene/FAM149B1	317662	ENSG00000138286	29162	https://pubmed.ncbi.nlm.nih.gov/?term=FAM149B1	None	None	25430	5
FAM161A	FAM161 centrosomal protein A	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/FAM161A	84140	ENSG00000170264	25808	https://pubmed.ncbi.nlm.nih.gov/?term=FAM161A	None	None	14469	67
FAM20A	FAM20A golgi associated secretory pathway pseudokinase	Enamel-renal syndrome?0000646	https://raresource.nih.gov/literature/gene/FAM20A	54757	ENSG00000108950	23015	https://pubmed.ncbi.nlm.nih.gov/?term=FAM20A	None	None	20784	71
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	304
FAN1	FANCD2 and FANCI associated nuclease 1	Karyomegalic interstitial nephritis?0011003;Lynch syndrome?0009905	https://raresource.nih.gov/literature/gene/FAN1	22909	ENSG00000198690	29170	https://pubmed.ncbi.nlm.nih.gov/?term=FAN1	None	None	16397	125
FANCA	FA complementation group A	Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/FANCA	2175	ENSG00000187741	3582	https://pubmed.ncbi.nlm.nih.gov/?term=FANCA	None	None	48805	1772
FANCB	FA complementation group B	Fanconi anemia?0006425;VACTERL with hydrocephalus?0000272	https://raresource.nih.gov/literature/gene/FANCB	2187	ENSG00000181544	3583	https://pubmed.ncbi.nlm.nih.gov/?term=FANCB	None	None	6703	2841
FANCC	FA complementation group C	Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/FANCC	2176	ENSG00000158169	3584	https://pubmed.ncbi.nlm.nih.gov/?term=FANCC	None	None	134406	516
FANCD2	FA complementation group D2	Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/FANCD2	2177	ENSG00000144554	3585	https://pubmed.ncbi.nlm.nih.gov/?term=FANCD2	None	None	42485	1743
FANCE	FA complementation group E	Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/FANCE	2178	ENSG00000112039	3586	https://pubmed.ncbi.nlm.nih.gov/?term=FANCE	None	None	7200	263
FANCF	FA complementation group F	Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/FANCF	2188	ENSG00000183161	3587	https://pubmed.ncbi.nlm.nih.gov/?term=FANCF	None	None	2601	221
FANCG	FA complementation group G	Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/FANCG	2189	ENSG00000221829	3588	https://pubmed.ncbi.nlm.nih.gov/?term=FANCG	None	None	4108	282
FANCI	FA complementation group I	Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/FANCI	55215	ENSG00000140525	25568	https://pubmed.ncbi.nlm.nih.gov/?term=FANCI	None	None	29392	308
FANCL	FA complementation group L	Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/FANCL	55120	ENSG00000115392	20748	https://pubmed.ncbi.nlm.nih.gov/?term=FANCL	None	None	46511	176
FANCM	FA complementation group M	Fanconi anemia?0006425;Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/FANCM	57697	ENSG00000187790	23168	https://pubmed.ncbi.nlm.nih.gov/?term=FANCM	None	None	25024	307
FAR1	fatty acyl-CoA reductase 1	Autosomal dominant spastic paraplegia type 9A?0009583	https://raresource.nih.gov/literature/gene/FAR1	84188	ENSG00000197601	26222	https://pubmed.ncbi.nlm.nih.gov/?term=FAR1	None	None	24084	250
FAS	Fas cell surface death receptor	Autoimmune lymphoproliferative syndrome?0008686;Vogt-Koyanagi-Harada disease?0007862;Behçet disease?0000848	https://raresource.nih.gov/literature/gene/FAS	355	ENSG00000026103	11920	https://pubmed.ncbi.nlm.nih.gov/?term=FAS	None	None	12315	28268
FASLG	Fas ligand	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	11195
FAT4	FAT atypical cadherin 4	Cerebrofacioarticular syndrome?0005456;Hennekam syndrome?0003318	https://raresource.nih.gov/literature/gene/FAT4	79633	ENSG00000196159	23109	https://pubmed.ncbi.nlm.nih.gov/?term=FAT4	None	None	68197	207
FBLN5	fibulin 5	Hereditary sensorimotor neuropathy with hyperelastic skin?0011010;Autosomal recessive cutis laxa type 1?0008480;Autosomal dominant cutis laxa?0001639	https://raresource.nih.gov/literature/gene/FBLN5	10516	ENSG00000140092	3602	https://pubmed.ncbi.nlm.nih.gov/?term=FBLN5	None	None	20582	54
FBN1	fibrillin 1	Acromicric dysplasia?0000007;Geleophysic dysplasia?0002449;Isolated ectopia lentis?0012251;Shprintzen-Goldberg syndrome?0004861;Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome?0002452;Stiff skin syndrome?0005025;Weill-Marchesani syndrome?0004936;Marfan syndrome type 1?0006975;Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/FBN1	2200	ENSG00000166147	3603	https://pubmed.ncbi.nlm.nih.gov/?term=FBN1	None	None	60220	2455
FBN2	fibrillin 2	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	568
FBP1	fructose-bisphosphatase 1	Fructose-1,6-bisphosphatase deficiency?0002400	https://raresource.nih.gov/literature/gene/FBP1	2203	ENSG00000165140	3606	https://pubmed.ncbi.nlm.nih.gov/?term=FBP1	None	None	16535	1060
FBXL4	F-box and leucine rich repeat protein 4	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies?0013298	https://raresource.nih.gov/literature/gene/FBXL4	26235	ENSG00000112234	13601	https://pubmed.ncbi.nlm.nih.gov/?term=FBXL4	None	None	31092	73
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	185
FCGR2C	Fc gamma receptor IIc (gene/pseudogene)	Immune thrombocytopenia?0005194	https://raresource.nih.gov/literature/gene/FCGR2C	9103	ENSG00000244682	15626	https://pubmed.ncbi.nlm.nih.gov/?term=FCGR2C	None	None	8510	1043
FDPS	farnesyl diphosphate synthase	Disseminated superficial actinic porokeratosis?0010983	https://raresource.nih.gov/literature/gene/FDPS	2224	ENSG00000160752	3631	https://pubmed.ncbi.nlm.nih.gov/?term=FDPS	None	None	5156	1296
FECH	ferrochelatase	Autosomal erythropoietic protoporphyria?0004527	https://raresource.nih.gov/literature/gene/FECH	2235	ENSG00000066926	3647	https://pubmed.ncbi.nlm.nih.gov/?term=FECH	None	None	12031	1147
FERMT1	FERM domain containing kindlin 1	Kindler epidermolysis bullosa?0004391	https://raresource.nih.gov/literature/gene/FERMT1	55612	ENSG00000101311	15889	https://pubmed.ncbi.nlm.nih.gov/?term=FERMT1	None	None	14318	220
FEZF1	FEZ family zinc finger 1	Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/FEZF1	389549	ENSG00000128610	22788	https://pubmed.ncbi.nlm.nih.gov/?term=FEZF1	None	None	3409	115
FGA	fibrinogen alpha chain	Familial hypofibrinogenemia?0002887;Familial afibrinogenemia?0005761;Familial dysfibrinogenemia?0002004	https://raresource.nih.gov/literature/gene/FGA	2243	ENSG00000171560	3661	https://pubmed.ncbi.nlm.nih.gov/?term=FGA	None	None	5069	923
FGB	fibrinogen beta chain	Familial hypofibrinogenemia?0002887;Familial afibrinogenemia?0005761;Familial dysfibrinogenemia?0002004	https://raresource.nih.gov/literature/gene/FGB	2244	ENSG00000171564	3662	https://pubmed.ncbi.nlm.nih.gov/?term=FGB	None	None	4755	600
FGD1	FYVE, RhoGEF and PH domain containing 1	Aarskog-Scott syndrome?0004775	https://raresource.nih.gov/literature/gene/FGD1	2245	ENSG00000102302	3663	https://pubmed.ncbi.nlm.nih.gov/?term=FGD1	None	None	9888	10549
FGF10	fibroblast growth factor 10	Lacrimoauriculodentodigital syndrome?0006848	https://raresource.nih.gov/literature/gene/FGF10	2255	ENSG00000070193	3666	https://pubmed.ncbi.nlm.nih.gov/?term=FGF10	None	None	36274	1340
FGF14	fibroblast growth factor 14	Spinocerebellar ataxia type 27?0009963	https://raresource.nih.gov/literature/gene/FGF14	2259	ENSG00000102466	3671	https://pubmed.ncbi.nlm.nih.gov/?term=FGF14	None	None	172380	220
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	104
FGF17	fibroblast growth factor 17	Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/FGF17	8822	ENSG00000158815	3673	https://pubmed.ncbi.nlm.nih.gov/?term=FGF17	None	None	4528	128
FGF23	fibroblast growth factor 23	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	4882
FGF3	fibroblast growth factor 3	Otodental syndrome?0004168;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	693
FGF8	fibroblast growth factor 8	Hypogonadotropic hypogonadism 6 with or without anosmia?0010774;Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/FGF8	2253	ENSG00000107831	3686	https://pubmed.ncbi.nlm.nih.gov/?term=FGF8	None	None	5097	1780
FGF9	fibroblast growth factor 9	Multiple synostoses syndrome?0003836	https://raresource.nih.gov/literature/gene/FGF9	2254	ENSG00000102678	3687	https://pubmed.ncbi.nlm.nih.gov/?term=FGF9	None	None	9187	987
FGFR1	fibroblast growth factor receptor 1	Hypogonadotropic hypogonadism 2 with or without anosmia?0003070;Hartsfield syndrome?0002725;Septo-optic dysplasia spectrum?0007627;Osteoglosphonic dysplasia?0004142;Kallmann syndrome?0010771;Gliosarcoma?0005653;Encephalocraniocutaneous lipomatosis?0002108	https://raresource.nih.gov/literature/gene/FGFR1	2260	ENSG00000077782	3688	https://pubmed.ncbi.nlm.nih.gov/?term=FGFR1	None	None	28913	6115
FGFR2	fibroblast growth factor receptor 2	Familial scaphocephaly syndrome, McGillivray type?0003426;Crouzon syndrome?0006206;Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome?0000332;Jackson-Weiss syndrome?0006796;FGFR2-related bent bone dysplasia?0010965;Lacrimoauriculodentodigital syndrome?0006848;Saethre-Chotzen syndrome?0007598;Apert syndrome?0005833	https://raresource.nih.gov/literature/gene/FGFR2	2263	ENSG00000066468	3689	https://pubmed.ncbi.nlm.nih.gov/?term=FGFR2	None	None	50807	3791
FGFR3	fibroblast growth factor receptor 3	Saethre-Chotzen syndrome?0007598;Camptodactyly-tall stature-scoliosis-hearing loss syndrome?0010012;Achondroplasia?0008173;Lacrimoauriculodentodigital syndrome?0006848;Hypochondroplasia?0006724;Gliosarcoma?0005653;Thanatophoric dysplasia type 2?0001402;Muenke syndrome?0007097;Severe achondroplasia-developmental delay-acanthosis nigricans syndrome?0009443;Thanatophoric dysplasia type 1?0009295	https://raresource.nih.gov/literature/gene/FGFR3	2261	ENSG00000068078	3690	https://pubmed.ncbi.nlm.nih.gov/?term=FGFR3	None	None	12150	3765
FGG	fibrinogen gamma chain	Familial hypofibrinogenemia?0002887;Familial afibrinogenemia?0005761;Familial dysfibrinogenemia?0002004	https://raresource.nih.gov/literature/gene/FGG	2266	ENSG00000171557	3694	https://pubmed.ncbi.nlm.nih.gov/?term=FGG	None	None	4576	585
FH	fumarate hydratase	Hereditary leiomyomatosis and renal cell cancer?0010096;Hereditary pheochromocytoma-paraganglioma?0011984;Fumaric aciduria?0006476	https://raresource.nih.gov/literature/gene/FH	2271	ENSG00000091483	3700	https://pubmed.ncbi.nlm.nih.gov/?term=FH	None	None	11628	3002
FHIT	fragile histidine triad diadenosine triphosphatase	Hereditary clear cell renal cell carcinoma?0009571	https://raresource.nih.gov/literature/gene/FHIT	2272	ENSG00000189283	3701	https://pubmed.ncbi.nlm.nih.gov/?term=FHIT	None	None	643336	1292
FHL1	four and a half LIM domains 1	Reducing body myopathy?0012162;X-linked scapuloperoneal muscular dystrophy?0007608	https://raresource.nih.gov/literature/gene/FHL1	2273	ENSG00000022267	3702	https://pubmed.ncbi.nlm.nih.gov/?term=FHL1	None	None	11402	543
FHL2	four and a half LIM domains 2	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/FHL2	2274	ENSG00000115641	3703	https://pubmed.ncbi.nlm.nih.gov/?term=FHL2	None	None	31473	453
FIG4	FIG4 phosphoinositide 5-phosphatase	Bilateral parasagittal parieto-occipital polymicrogyria?0010785;Yunis-Varon syndrome?0000331;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/FIG4	9896	ENSG00000112367	16873	https://pubmed.ncbi.nlm.nih.gov/?term=FIG4	None	None	48323	218
FIP1L1	factor interacting with PAPOLA and CPSF1	Acute promyelocytic leukemia?0000538	https://raresource.nih.gov/literature/gene/FIP1L1	81608	ENSG00000145216	19124	https://pubmed.ncbi.nlm.nih.gov/?term=FIP1L1	None	None	598	584
FKBP10	FKBP prolyl isomerase 10	Kuskokwim syndrome?0003150;Bruck syndrome?0001029;Osteogenesis imperfecta type 4?0008696;Osteogenesis imperfecta type 3?0008695	https://raresource.nih.gov/literature/gene/FKBP10	60681	ENSG00000141756	18169	https://pubmed.ncbi.nlm.nih.gov/?term=FKBP10	None	None	4454	981
FKBP6	FKBP prolyl isomerase family member 6 (inactive)	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/FKBP6	8468	ENSG00000077800	3722	https://pubmed.ncbi.nlm.nih.gov/?term=FKBP6	None	None	11659	120
FKRP	fukutin related protein	FKRP-related limb-girdle muscular dystrophy R9?0012533;Muscle-eye-brain disease?0000156;Walker-Warburg syndrome?0002599	https://raresource.nih.gov/literature/gene/FKRP	79147	ENSG00000181027	17997	https://pubmed.ncbi.nlm.nih.gov/?term=FKRP	None	None	8335	303
FKTN	fukutin	Familial isolated dilated cardiomyopathy?0002905;Congenital muscular dystrophy, Fukuyama type?0006475;Muscle-eye-brain disease?0000156;Walker-Warburg syndrome?0002599	https://raresource.nih.gov/literature/gene/FKTN	2218	ENSG00000106692	3622	https://pubmed.ncbi.nlm.nih.gov/?term=FKTN	None	None	31156	231
FLCN	folliculin	Familial spontaneous pneumothorax?0004997;Birt-Hogg-Dubé syndrome?0002322;Hereditary clear cell renal cell carcinoma?0009571	https://raresource.nih.gov/literature/gene/FLCN	201163	ENSG00000154803	27310	https://pubmed.ncbi.nlm.nih.gov/?term=FLCN	None	None	11665	709
FLI1	Fli-1 proto-oncogene, ETS transcription factor	Skeletal Ewing sarcoma?0006390;Jacobsen syndrome?0000307;Paris-Trousseau thrombocytopenia?0004224	https://raresource.nih.gov/literature/gene/FLI1	2313	ENSG00000151702	3749	https://pubmed.ncbi.nlm.nih.gov/?term=FLI1	None	None	42985	2150
FLII	FLII actin remodeling protein	Smith-Magenis syndrome?0008197	https://raresource.nih.gov/literature/gene/FLII	2314	ENSG00000177731	3750	https://pubmed.ncbi.nlm.nih.gov/?term=FLII	None	None	7149	1821
FLNA	filamin A	Neuronal intestinal pseudoobstruction?0003928;Otopalatodigital syndrome type 1?0005121;Periventricular nodular heterotopia 1?0007371;Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked?0003017;Otopalatodigital syndrome type 2?0005802;Periventricular nodular heterotopia?0012724;Melnick-Needles syndrome?0007011;Frontometaphyseal dysplasia?0000826;FLNA-related X-linked myxomatous valvular dysplasia?0001096	https://raresource.nih.gov/literature/gene/FLNA	2316	ENSG00000196924	3754	https://pubmed.ncbi.nlm.nih.gov/?term=FLNA	None	None	8510	1464
FLNB	filamin B	Atelosteogenesis type I?0009287;Atelosteogenesis type III?0010608;Boomerang dysplasia?0000933;Larsen syndrome?0006860;Spondylocarpotarsal synostosis?0004974	https://raresource.nih.gov/literature/gene/FLNB	2317	ENSG00000136068	3755	https://pubmed.ncbi.nlm.nih.gov/?term=FLNB	None	None	64703	2921
FLRT3	fibronectin leucine rich transmembrane protein 3	Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/FLRT3	23767	ENSG00000125848	3762	https://pubmed.ncbi.nlm.nih.gov/?term=FLRT3	None	None	2592	75
FLT3	fms related receptor tyrosine kinase 3	Acute myeloblastic leukemia with maturation?0000527;Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)?0000536;Acute myeloblastic leukemia without maturation?0000526	https://raresource.nih.gov/literature/gene/FLT3	2322	ENSG00000122025	3765	https://pubmed.ncbi.nlm.nih.gov/?term=FLT3	None	None	39664	778
FLT4	fms related receptor tyrosine kinase 4	Milroy disease?0007220;Lymphatic malformation 1?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	10
FLVCR1	FLVCR heme transporter 1	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	258
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	523
FMR1	fragile X messenger ribonucleoprotein 1	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	4327
FN1	fibronectin 1	Glomerulopathy with fibronectin deposits 2?0009914;Spondylometaphyseal dysplasia, 'corner fracture' type?0004991	https://raresource.nih.gov/literature/gene/FN1	2335	ENSG00000115414	3778	https://pubmed.ncbi.nlm.nih.gov/?term=FN1	None	None	36388	9
FOLR1	folate receptor 1	Neurodegenerative syndrome due to 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	1276
FOS	Fos proto-oncogene, AP-1 transcription factor subunit	Congenital generalized lipodystrophy?0013388	https://raresource.nih.gov/literature/gene/FOS	2353	ENSG00000170345	3796	https://pubmed.ncbi.nlm.nih.gov/?term=FOS	None	None	2603	43213
FOXA2	forkhead box A2	Combined pituitary hormone deficiencies, genetic forms?0010602	https://raresource.nih.gov/literature/gene/FOXA2	3170	ENSG00000125798	5022	https://pubmed.ncbi.nlm.nih.gov/?term=FOXA2	None	None	3895	1395
FOXC1	forkhead box C1	Anterior segment dysgenesis 3?0002978;Axenfeld-Rieger syndrome?0005701;Isolated aniridia?0005816;Peters anomaly?0007377	https://raresource.nih.gov/literature/gene/FOXC1	2296	ENSG00000054598	3800	https://pubmed.ncbi.nlm.nih.gov/?term=FOXC1	None	None	4386	1165
FOXC2	forkhead box C2	Lymphedema-distichiasis syndrome?0000333	https://raresource.nih.gov/literature/gene/FOXC2	2303	ENSG00000176692	3801	https://pubmed.ncbi.nlm.nih.gov/?term=FOXC2	None	None	2845	1427
FOXE1	forkhead box E1	Familial papillary or follicular thyroid carcinoma?0008488;Differentiated thyroid carcinoma?0012027;Bamforth-Lazarus syndrome?0000414	https://raresource.nih.gov/literature/gene/FOXE1	2304	ENSG00000178919	3806	https://pubmed.ncbi.nlm.nih.gov/?term=FOXE1	None	None	3289	379
FOXE3	forkhead box E3	Congenital primary aphakia?0009952;Peters anomaly?0007377;Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/FOXE3	2301	ENSG00000186790	3808	https://pubmed.ncbi.nlm.nih.gov/?term=FOXE3	None	None	2231	35
FOXF1	forkhead box F1	Congenital alveolar capillary dysplasia?0008644	https://raresource.nih.gov/literature/gene/FOXF1	2294	ENSG00000103241	3809	https://pubmed.ncbi.nlm.nih.gov/?term=FOXF1	None	None	3702	373
FOXI1	forkhead box I1	Autosomal recessive distal renal tubular acidosis?0004666;Pendred syndrome?0004271	https://raresource.nih.gov/literature/gene/FOXI1	2299	ENSG00000168269	3815	https://pubmed.ncbi.nlm.nih.gov/?term=FOXI1	None	None	4321	153
FOXJ1	forkhead box J1	Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/FOXJ1	2302	ENSG00000129654	3816	https://pubmed.ncbi.nlm.nih.gov/?term=FOXJ1	None	None	2843	403
FOXN1	forkhead box N1	Severe combined immunodeficiency due to FOXN1 deficiency?0004358	https://raresource.nih.gov/literature/gene/FOXN1	8456	ENSG00000109101	12765	https://pubmed.ncbi.nlm.nih.gov/?term=FOXN1	None	None	10859	443
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	6817
FOXP1	forkhead box P1	Intellectual disability-severe speech delay-mild dysmorphism syndrome?0012501;MALT lymphoma?0006485	https://raresource.nih.gov/literature/gene/FOXP1	27086	ENSG00000114861	3823	https://pubmed.ncbi.nlm.nih.gov/?term=FOXP1	None	None	295687	861
FOXP2	forkhead box P2	Isolated 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	758
FOXP3	forkhead box P3	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome?0001850	https://raresource.nih.gov/literature/gene/FOXP3	50943	ENSG00000049768	6106	https://pubmed.ncbi.nlm.nih.gov/?term=FOXP3	None	None	3169	20652
FOXRED1	FAD dependent oxidoreductase domain containing 1	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/FOXRED1	55572	ENSG00000110074	26927	https://pubmed.ncbi.nlm.nih.gov/?term=FOXRED1	None	None	3305	32
FRAS1	Fraser extracellular matrix complex subunit 1	Fraser syndrome?0006465	https://raresource.nih.gov/literature/gene/FRAS1	80144	ENSG00000138759	19185	https://pubmed.ncbi.nlm.nih.gov/?term=FRAS1	None	None	181175	140
FREM1	FRAS1 related extracellular matrix 1	BNAR syndrome?0010595;Oculotrichoanal syndrome?0003395	https://raresource.nih.gov/literature/gene/FREM1	158326	ENSG00000164946	23399	https://pubmed.ncbi.nlm.nih.gov/?term=FREM1	None	None	84779	367
FREM2	FRAS1 related extracellular matrix 2	Fraser syndrome?0006465	https://raresource.nih.gov/literature/gene/FREM2	341640	ENSG00000150893	25396	https://pubmed.ncbi.nlm.nih.gov/?term=FREM2	None	None	66348	92
FRG1	FSHD region gene 1	Facioscapulohumeral dystrophy?0009941	https://raresource.nih.gov/literature/gene/FRG1	2483	ENSG00000109536	3954	https://pubmed.ncbi.nlm.nih.gov/?term=FRG1	None	None	11709	74
FRRS1L	ferric chelate reductase 1 like	Continuous spikes and waves during sleep?0001513	https://raresource.nih.gov/literature/gene/FRRS1L	23732	ENSG00000260230	1362	https://pubmed.ncbi.nlm.nih.gov/?term=FRRS1L	None	None	14577	19
FSCN2	fascin actin-bundling protein 2, retinal	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/FSCN2	25794	ENSG00000186765	3960	https://pubmed.ncbi.nlm.nih.gov/?term=FSCN2	None	None	9099	57
FSHB	follicle stimulating hormone subunit beta	Isolated follicle stimulating hormone deficiency?0010128	https://raresource.nih.gov/literature/gene/FSHB	2488	ENSG00000131808	3964	https://pubmed.ncbi.nlm.nih.gov/?term=FSHB	None	None	2024	785
FSHR	follicle stimulating hormone receptor	46,XX gonadal dysgenesis?0005671	https://raresource.nih.gov/literature/gene/FSHR	2492	ENSG00000170820	3969	https://pubmed.ncbi.nlm.nih.gov/?term=FSHR	None	None	84887	4
FTCD	formimidoyltransferase cyclodeaminase	Formiminoglutamic aciduria?0009279	https://raresource.nih.gov/literature/gene/FTCD	10841	ENSG00000160282	3974	https://pubmed.ncbi.nlm.nih.gov/?term=FTCD	None	None	10775	100
FTH1	ferritin heavy chain 1	FTH1-related iron overload?0013472	https://raresource.nih.gov/literature/gene/FTH1	2495	ENSG00000167996	3976	https://pubmed.ncbi.nlm.nih.gov/?term=FTH1	None	None	1921	1853
FTL	ferritin light chain	Hereditary hyperferritinemia-cataract syndrome?0002806;Neuroferritinopathy?0010686	https://raresource.nih.gov/literature/gene/FTL	2512	ENSG00000087086	3999	https://pubmed.ncbi.nlm.nih.gov/?term=FTL	None	None	1271	607
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	134
FUS	FUS RNA binding protein	Amyotrophic lateral sclerosis?0005786;Myxoid/round cell liposarcoma?0007157;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	2904
FUZ	fuzzy planar cell polarity protein	Arnold-Chiari malformation type II?0009232;Caudal regression syndrome?0006007	https://raresource.nih.gov/literature/gene/FUZ	80199	ENSG00000010361	26219	https://pubmed.ncbi.nlm.nih.gov/?term=FUZ	None	None	2494	364
FXN	frataxin	Friedreich ataxia?0006468	https://raresource.nih.gov/literature/gene/FXN	2395	ENSG00000165060	3951	https://pubmed.ncbi.nlm.nih.gov/?term=FXN	None	None	309	2073
FXYD2	FXYD domain containing ion transport regulator 2	Autosomal dominant primary hypomagnesemia with hypocalciuria?0003350	https://raresource.nih.gov/literature/gene/FXYD2	486	ENSG00000137731	4026	https://pubmed.ncbi.nlm.nih.gov/?term=FXYD2	None	None	4347	105
FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	Cataract 18?0009892;Total early-onset cataract?0001159	https://raresource.nih.gov/literature/gene/FYCO1	79443	ENSG00000163820	14673	https://pubmed.ncbi.nlm.nih.gov/?term=FYCO1	None	None	26494	122
FZD2	frizzled class receptor 2	Autosomal dominant omodysplasia?0003643	https://raresource.nih.gov/literature/gene/FZD2	2535	ENSG00000180340	4040	https://pubmed.ncbi.nlm.nih.gov/?term=FZD2	None	None	2766	307
FZD4	frizzled class receptor 4	Retinopathy of prematurity?0005695;Familial exudative vitreoretinopathy?0001613	https://raresource.nih.gov/literature/gene/FZD4	8322	ENSG00000174804	4042	https://pubmed.ncbi.nlm.nih.gov/?term=FZD4	None	None	1683	5681
FZD5	frizzled class receptor 5	Coloboma of macula?0001436;Coloboma of eye lens?0001433;Coloboma of optic disc?0001438;Coloboma of iris?0001434	https://raresource.nih.gov/literature/gene/FZD5	7855	ENSG00000163251	4043	https://pubmed.ncbi.nlm.nih.gov/?term=FZD5	None	None	4410	3992
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	1894
G6PD	glucose-6-phosphate dehydrogenase	Class I glucose-6-phosphate dehydrogenase deficiency?0006520	https://raresource.nih.gov/literature/gene/G6PD	2539	ENSG00000160211	4057	https://pubmed.ncbi.nlm.nih.gov/?term=G6PD	None	None	4051	14020
GABBR2	gamma-aminobutyric acid type B receptor subunit 2	Atypical Rett syndrome?0004694	https://raresource.nih.gov/literature/gene/GABBR2	9568	ENSG00000136928	4507	https://pubmed.ncbi.nlm.nih.gov/?term=GABBR2	None	None	149997	307
GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	Dravet syndrome?0010430;Juvenile myoclonic epilepsy?0006808	https://raresource.nih.gov/literature/gene/GABRA1	2554	ENSG00000022355	4075	https://pubmed.ncbi.nlm.nih.gov/?term=GABRA1	None	None	23599	306
GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	Thyrotoxic periodic paralysis?0010814	https://raresource.nih.gov/literature/gene/GABRA3	2556	ENSG00000011677	4077	https://pubmed.ncbi.nlm.nih.gov/?term=GABRA3	None	None	55708	107
GABRB3	gamma-aminobutyric acid type A receptor subunit beta3	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	357
GABRD	gamma-aminobutyric acid type A receptor subunit delta	Juvenile myoclonic epilepsy?0006808;1p36 deletion syndrome?0006082	https://raresource.nih.gov/literature/gene/GABRD	2563	ENSG00000187730	4084	https://pubmed.ncbi.nlm.nih.gov/?term=GABRD	None	None	6806	125
GABRG2	gamma-aminobutyric acid type A receptor subunit gamma2	Dravet syndrome?0010430;Rolandic epilepsy?0010287	https://raresource.nih.gov/literature/gene/GABRG2	2566	ENSG00000113327	4087	https://pubmed.ncbi.nlm.nih.gov/?term=GABRG2	None	None	65280	305
GALK1	galactokinase 1	Galactokinase deficiency?0002422	https://raresource.nih.gov/literature/gene/GALK1	2584	ENSG00000108479	4118	https://pubmed.ncbi.nlm.nih.gov/?term=GALK1	None	None	2957	949
GALNS	galactosamine (N-acetyl)-6-sulfatase	Mucopolysaccharidosis type 4A?0003785	https://raresource.nih.gov/literature/gene/GALNS	2588	ENSG00000141012	4122	https://pubmed.ncbi.nlm.nih.gov/?term=GALNS	None	None	16660	1431
GALNT3	polypeptide N-acetylgalactosaminyltransferase 3	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	244
GALT	galactose-1-phosphate uridylyltransferase	Classic galactosemia?0013639	https://raresource.nih.gov/literature/gene/GALT	2592	ENSG00000213930	4135	https://pubmed.ncbi.nlm.nih.gov/?term=GALT	None	None	2914	1209
GAMT	guanidinoacetate N-methyltransferase	Guanidinoacetate methyltransferase deficiency?0002578	https://raresource.nih.gov/literature/gene/GAMT	2593	ENSG00000130005	4136	https://pubmed.ncbi.nlm.nih.gov/?term=GAMT	None	None	3142	288
GAN	gigaxonin	Giant axonal neuropathy?0006500	https://raresource.nih.gov/literature/gene/GAN	8139	ENSG00000261609	4137	https://pubmed.ncbi.nlm.nih.gov/?term=GAN	None	None	23309	154
GANAB	glucosidase II alpha subunit	Autosomal dominant polycystic kidney disease?0010413	https://raresource.nih.gov/literature/gene/GANAB	23193	ENSG00000089597	4138	https://pubmed.ncbi.nlm.nih.gov/?term=GANAB	None	None	10454	222
GAPVD1	GTPase activating protein and VPS9 domains 1	Genetic 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	29
GAS2L2	growth arrest specific 2 like 2	Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/GAS2L2	246176	ENSG00000270765	24846	https://pubmed.ncbi.nlm.nih.gov/?term=GAS2L2	None	None	4241	8
GAS8	growth arrest specific 8	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	62
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	20
GATA1	GATA binding protein 1	Blackfan-Diamond anemia?0006274;Transient myeloproliferative syndrome?0012765;Congenital erythropoietic porphyria?0004446	https://raresource.nih.gov/literature/gene/GATA1	2623	ENSG00000102145	4170	https://pubmed.ncbi.nlm.nih.gov/?term=GATA1	None	None	3068	2760
GATA2	GATA binding protein 2	Deafness-lymphedema-leukemia syndrome?0013030;Monocytopenia with susceptibility to infections?0010934	https://raresource.nih.gov/literature/gene/GATA2	2624	ENSG00000179348	4171	https://pubmed.ncbi.nlm.nih.gov/?term=GATA2	None	None	8285	1512
GATA3	GATA binding protein 3	Hypoparathyroidism-sensorineural 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	3875
GATA4	GATA binding protein 4	8p23.1 microdeletion syndrome?0003769;Familial atrial fibrillation?0009740;Tetralogy of Fallot?0002245;Atrial septal defect, ostium secundum type?0005865	https://raresource.nih.gov/literature/gene/GATA4	2626	ENSG00000136574	4173	https://pubmed.ncbi.nlm.nih.gov/?term=GATA4	None	None	39957	2432
GATA5	GATA binding protein 5	Familial atrial fibrillation?0009740;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/GATA5	140628	ENSG00000130700	15802	https://pubmed.ncbi.nlm.nih.gov/?term=GATA5	None	None	8940	270
GATA6	GATA binding protein 6	Congenital diaphragmatic hernia?0001481;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome?0000347;Atrial septal defect, ostium secundum type?0005865;Familial atrial fibrillation?0009740;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/GATA6	2627	ENSG00000141448	4174	https://pubmed.ncbi.nlm.nih.gov/?term=GATA6	None	None	10413	975
GATAD1	GATA zinc finger domain containing 1	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/GATAD1	57798	ENSG00000157259	29941	https://pubmed.ncbi.nlm.nih.gov/?term=GATAD1	None	None	5164	20
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	478
GATM	glycine amidinotransferase	Primary Fanconi renotubular syndrome?0009118;L-Arginine:glycine amidinotransferase deficiency?0010323	https://raresource.nih.gov/literature/gene/GATM	2628	ENSG00000171766	4175	https://pubmed.ncbi.nlm.nih.gov/?term=GATM	None	None	8659	3223
GBE1	1,4-alpha-glucan branching enzyme 1	Adult polyglucosan body disease?0000108	https://raresource.nih.gov/literature/gene/GBE1	2632	ENSG00000114480	4180	https://pubmed.ncbi.nlm.nih.gov/?term=GBE1	None	None	100473	316
GCDH	glutaryl-CoA dehydrogenase	Glutaryl-CoA dehydrogenase deficiency?0006522	https://raresource.nih.gov/literature/gene/GCDH	2639	ENSG00000105607	4189	https://pubmed.ncbi.nlm.nih.gov/?term=GCDH	None	None	3676	503
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	1002
GCH1	GTP cyclohydrolase 1	GTP cyclohydrolase I deficiency?0002844;Autosomal dominant dopa-responsive dystonia?0009817	https://raresource.nih.gov/literature/gene/GCH1	2643	ENSG00000131979	4193	https://pubmed.ncbi.nlm.nih.gov/?term=GCH1	None	None	17817	1206
GCK	glucokinase	Hyperinsulinism due to glucokinase deficiency?0002818;MODY?0003697;Isolated permanent neonatal diabetes mellitus?0010457	https://raresource.nih.gov/literature/gene/GCK	2645	ENSG00000106633	4195	https://pubmed.ncbi.nlm.nih.gov/?term=GCK	None	None	19856	5279
GCLC	glutamate-cysteine ligase catalytic subunit	Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/GCLC	2729	ENSG00000001084	4311	https://pubmed.ncbi.nlm.nih.gov/?term=GCLC	None	None	20434	3574
GCNT2	glucosaminyl (N-acetyl) transferase 2 (I blood group)	Total early-onset cataract?0001159	https://raresource.nih.gov/literature/gene/GCNT2	2651	ENSG00000111846	4204	https://pubmed.ncbi.nlm.nih.gov/?term=GCNT2	None	None	70843	3402
GDAP1	ganglioside induced differentiation associated protein 1	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness?0012448	https://raresource.nih.gov/literature/gene/GDAP1	54332	ENSG00000104381	15968	https://pubmed.ncbi.nlm.nih.gov/?term=GDAP1	None	None	60688	237
GDF1	growth differentiation factor 1	Right sided atrial isomerism?0006795;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/GDF1	2657	ENSG00000130283	4214	https://pubmed.ncbi.nlm.nih.gov/?term=GDF1	None	None	8738	321
GDF2	growth differentiation factor 2	Hereditary hemorrhagic telangiectasia?0006626	https://raresource.nih.gov/literature/gene/GDF2	2658	ENSG00000263761	4217	https://pubmed.ncbi.nlm.nih.gov/?term=GDF2	None	None	5386	432
GDF3	growth differentiation factor 3	Isolated Klippel-Feil syndrome?0010280;Colobomatous microphthalmia?0003644	https://raresource.nih.gov/literature/gene/GDF3	9573	ENSG00000184344	4218	https://pubmed.ncbi.nlm.nih.gov/?term=GDF3	None	None	3499	154
GDF5	growth differentiation factor 5	Brachydactyly type A2?0000979;Brachydactyly type A1?0000978;Brachydactyly type C?0000986;Acromesomelic dysplasia, Grebe type?0001300;Fibular aplasia-complex brachydactyly syndrome?0009879;Multiple synostoses syndrome 2?0009916;Proximal symphalangism?0008182;Acromesomelic dysplasia, Hunter-Thompson type?0000506;Angel-shaped phalango-epiphyseal dysplasia?0000671;Multiple synostoses syndrome?0003836	https://raresource.nih.gov/literature/gene/GDF5	8200	ENSG00000125965	4220	https://pubmed.ncbi.nlm.nih.gov/?term=GDF5	None	None	6438	718
GDF6	growth differentiation factor 6	Isolated Klippel-Feil syndrome?0010280;Colobomatous microphthalmia?0003644;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/GDF6	392255	ENSG00000156466	4221	https://pubmed.ncbi.nlm.nih.gov/?term=GDF6	None	None	8667	174
GDNF	glial cell derived neurotrophic factor	Hirschsprung disease?0006660;Congenital central hypoventilation syndrome?0008535	https://raresource.nih.gov/literature/gene/GDNF	2668	ENSG00000168621	4232	https://pubmed.ncbi.nlm.nih.gov/?term=GDNF	None	None	12492	8491
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	755
GFI1	growth factor independent 1 transcriptional repressor	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	569
GFI1B	growth factor independent 1B transcriptional repressor	Alpha delta granule deficiency?0005034	https://raresource.nih.gov/literature/gene/GFI1B	8328	ENSG00000165702	4238	https://pubmed.ncbi.nlm.nih.gov/?term=GFI1B	None	None	18686	172
GFND1	Glomerulopathy with fibronectin deposits 1	Glomerulopathy with fibronectin deposits 1?0009268	https://raresource.nih.gov/literature/gene/GFND1	100689213			https://pubmed.ncbi.nlm.nih.gov/?term=GFND1	None	None	None	None
GGT1	gamma-glutamyltransferase 1	Gamma-glutamyl transpeptidase deficiency?0010099	https://raresource.nih.gov/literature/gene/GGT1	2678	ENSG00000100031	4250	https://pubmed.ncbi.nlm.nih.gov/?term=GGT1	None	None	17331	6402
GH1	growth hormone 1	Isolated growth hormone deficiency type IB?0003919;Isolated growth hormone deficiency type IA?0007399;Isolated growth hormone deficiency type II?0001696;Short stature due to growth hormone qualitative anomaly?0000408	https://raresource.nih.gov/literature/gene/GH1	2688	ENSG00000259384	4261	https://pubmed.ncbi.nlm.nih.gov/?term=GH1	None	None	1434	37287
GHR	growth hormone receptor	Laron syndrome?0006859	https://raresource.nih.gov/literature/gene/GHR	2690	ENSG00000112964	4263	https://pubmed.ncbi.nlm.nih.gov/?term=GHR	None	None	111472	4174
GHRHR	growth hormone releasing hormone receptor	Isolated growth hormone deficiency type IB?0003919	https://raresource.nih.gov/literature/gene/GHRHR	2692	ENSG00000106128	4266	https://pubmed.ncbi.nlm.nih.gov/?term=GHRHR	None	None	21252	526
GINGF2	Fibromatosis, gingival, 2	Fibromatosis, gingival, 2?0002474	https://raresource.nih.gov/literature/gene/GINGF2	64644			https://pubmed.ncbi.nlm.nih.gov/?term=GINGF2	None	None	None	43
GINGF3	Fibromatosis, gingival, 3	Fibromatosis, gingival, 3?0009911	https://raresource.nih.gov/literature/gene/GINGF3	780916			https://pubmed.ncbi.nlm.nih.gov/?term=GINGF3	None	None	None	5
GINGF4	Fibromatosis, gingival, 4	Fibromatosis, gingival, 4?0002475	https://raresource.nih.gov/literature/gene/GINGF4	100124414			https://pubmed.ncbi.nlm.nih.gov/?term=GINGF4	None	None	None	1
GIPC1	GIPC PDZ domain containing family member 1	Oculopharyngodistal myopathy?0012592	https://raresource.nih.gov/literature/gene/GIPC1	10755	ENSG00000123159	1226	https://pubmed.ncbi.nlm.nih.gov/?term=GIPC1	None	None	9110	317
GJA1	gap junction protein alpha 1	Hypoplastic left heart syndrome?0006739;Oculodentodigital dysplasia?0007239;Syndactyly type 3?0005088;Autosomal dominant palmoplantar keratoderma and congenital alopecia?0000604;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	8382
GJA5	gap junction protein alpha 5	Familial atrial fibrillation?0009740;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/GJA5	2702	ENSG00000265107	4279	https://pubmed.ncbi.nlm.nih.gov/?term=GJA5	None	None	7888	996
GJA8	gap junction protein alpha 8	Cataract-microcornea syndrome?0001155;Total early-onset cataract?0001159	https://raresource.nih.gov/literature/gene/GJA8	2703	ENSG00000121634	4281	https://pubmed.ncbi.nlm.nih.gov/?term=GJA8	None	None	2280	616
GJB2	gap junction protein beta 2	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome?0003125;Deafness, autosomal recessive 1a?0001697;Palmoplantar keratoderma-deafness syndrome?0003094;KID syndrome?0003113;Deafness, autosomal dominant 3a?0009933;Keratoderma hereditarium mutilans?0003092	https://raresource.nih.gov/literature/gene/GJB2	2706	ENSG00000165474	4284	https://pubmed.ncbi.nlm.nih.gov/?term=GJB2	None	None	2680	3605
GJB3	gap junction protein beta 3	Deafness, autosomal recessive 1a?0001697	https://raresource.nih.gov/literature/gene/GJB3	2707	ENSG00000188910	4285	https://pubmed.ncbi.nlm.nih.gov/?term=GJB3	None	None	3171	406
GJB6	gap junction protein beta 6	KID syndrome?0003113;Deafness, autosomal recessive 1a?0001697;Hidrotic ectodermal dysplasia?0002056	https://raresource.nih.gov/literature/gene/GJB6	10804	ENSG00000121742	4288	https://pubmed.ncbi.nlm.nih.gov/?term=GJB6	None	None	4594	1144
GJC2	gap junction protein gamma 2	Milroy disease?0007220	https://raresource.nih.gov/literature/gene/GJC2	57165	ENSG00000198835	17494	https://pubmed.ncbi.nlm.nih.gov/?term=GJC2	None	None	5502	172
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	4131
GLB1	galactosidase beta 1	GM1 gangliosidosis type 3?0002431;GM1 gangliosidosis type 1?0006479;GM1 gangliosidosis type 2?0010126;Mucopolysaccharidosis type 4B?0003786	https://raresource.nih.gov/literature/gene/GLB1	2720	ENSG00000170266	4298	https://pubmed.ncbi.nlm.nih.gov/?term=GLB1	None	None	42272	16783
GLC3B	Glaucoma 3, primary infantile, B	Glaucoma 3, primary infantile, b?0002490	https://raresource.nih.gov/literature/gene/GLC3B	2728			https://pubmed.ncbi.nlm.nih.gov/?term=GLC3B	None	None	None	16
GLE1	GLE1 RNA export mediator	Lethal congenital contracture syndrome type 1?0003227;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/GLE1	2733	ENSG00000119392	4315	https://pubmed.ncbi.nlm.nih.gov/?term=GLE1	None	None	17429	100
GLI1	GLI family zinc finger 1	Polydactyly of a biphalangeal thumb?0004417;Ellis Van Creveld syndrome?0001301	https://raresource.nih.gov/literature/gene/GLI1	2735	ENSG00000111087	4317	https://pubmed.ncbi.nlm.nih.gov/?term=GLI1	None	None	5891	3873
GLI2	GLI family zinc finger 2	Combined pituitary hormone deficiencies, genetic forms?0010602;Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome?0013349	https://raresource.nih.gov/literature/gene/GLI2	2736	ENSG00000074047	4318	https://pubmed.ncbi.nlm.nih.gov/?term=GLI2	None	None	97265	1365
GLI3	GLI family zinc finger 3	Polysyndactyly?0009903;Tibial hemimelia?0008707;Acrocallosal syndrome?0005721;Pallister-Hall syndrome?0007305;Greig cephalopolysyndactyly syndrome?0006550	https://raresource.nih.gov/literature/gene/GLI3	2737	ENSG00000106571	4319	https://pubmed.ncbi.nlm.nih.gov/?term=GLI3	None	None	114881	1523
GLRA1	glycine receptor alpha 1	Hereditary hyperekplexia?0003129	https://raresource.nih.gov/literature/gene/GLRA1	2741	ENSG00000145888	4326	https://pubmed.ncbi.nlm.nih.gov/?term=GLRA1	None	None	40087	159
GLRB	glycine receptor beta	Hereditary hyperekplexia?0003129	https://raresource.nih.gov/literature/gene/GLRB	2743	ENSG00000109738	4329	https://pubmed.ncbi.nlm.nih.gov/?term=GLRB	None	None	37188	90
GLT8D1	glycosyltransferase 8 domain containing 1	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/GLT8D1	55830	ENSG00000016864	24870	https://pubmed.ncbi.nlm.nih.gov/?term=GLT8D1	None	None	4633	30
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	2910
GLUL	glutamate-ammonia ligase	Congenital brain dysgenesis due to glutamine synthetase deficiency?0009848	https://raresource.nih.gov/literature/gene/GLUL	2752	ENSG00000135821	4341	https://pubmed.ncbi.nlm.nih.gov/?term=GLUL	None	None	6069	12164
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	74
GMNN	geminin DNA replication inhibitor	Ear-patella-short stature syndrome?0002033	https://raresource.nih.gov/literature/gene/GMNN	51053	ENSG00000112312	17493	https://pubmed.ncbi.nlm.nih.gov/?term=GMNN	None	None	5136	634
GMPPA	GDP-mannose pyrophosphorylase A	Triple A syndrome?0000457;Alacrima, achalasia, and mental retardation syndrome?0012404	https://raresource.nih.gov/literature/gene/GMPPA	29926	ENSG00000144591	22923	https://pubmed.ncbi.nlm.nih.gov/?term=GMPPA	None	None	4320	18
GMPPB	GDP-mannose pyrophosphorylase B	Muscle-eye-brain disease?0000156	https://raresource.nih.gov/literature/gene/GMPPB	29925	ENSG00000173540	22932	https://pubmed.ncbi.nlm.nih.gov/?term=GMPPB	None	None	1527	77
GNA11	G protein subunit alpha 11	Familial hypocalciuric hypercalcemia type 2?0009758;Autosomal dominant hypocalcemia?0002877;Uveal melanoma?0008621	https://raresource.nih.gov/literature/gene/GNA11	2767	ENSG00000088256	4379	https://pubmed.ncbi.nlm.nih.gov/?term=GNA11	None	None	14700	579
GNA14	G protein subunit alpha 14	Kaposiform hemangioendothelioma?0003077;Tufted angioma?0000425	https://raresource.nih.gov/literature/gene/GNA14	9630	ENSG00000156049	4382	https://pubmed.ncbi.nlm.nih.gov/?term=GNA14	None	None	89702	35
GNAI3	G protein subunit alpha i3	Auriculocondylar syndrome?0009798	https://raresource.nih.gov/literature/gene/GNAI3	2773	ENSG00000065135	4387	https://pubmed.ncbi.nlm.nih.gov/?term=GNAI3	None	None	18783	101
GNAL	G protein subunit alpha L	Autosomal dominant focal dystonia, DYT25 type?0010667	https://raresource.nih.gov/literature/gene/GNAL	2774	ENSG00000141404	4388	https://pubmed.ncbi.nlm.nih.gov/?term=GNAL	None	None	49384	132
GNAO1	G protein subunit alpha o1	Early infantile epileptic encephalopathy?0009255;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	1363
GNAQ	G protein subunit alpha q	Sturge-Weber syndrome?0007706;Familial multiple nevi flammei?0003986;Uveal melanoma?0008621	https://raresource.nih.gov/literature/gene/GNAQ	2776	ENSG00000156052	4390	https://pubmed.ncbi.nlm.nih.gov/?term=GNAQ	None	None	118755	999
GNAS	GNAS complex locus	McCune-Albright syndrome?0006995;Pseudohypoparathyroidism type 1B?0010680;Progressive osseous heteroplasia?0000109;Pseudohypoparathyroidism type 1A?0007486;Pseudopseudohypoparathyroidism?0007860;Polyostotic fibrous dysplasia?0004213;Pseudohypoparathyroidism type 1C?0010681;Cushing syndrome due to macronodular adrenal hyperplasia?0010824	https://raresource.nih.gov/literature/gene/GNAS	2778	ENSG00000087460	4392	https://pubmed.ncbi.nlm.nih.gov/?term=GNAS	None	None	29209	2589
GNAT1	G protein subunit alpha transducin 1	Congenital stationary night blindness?0003995	https://raresource.nih.gov/literature/gene/GNAT1	2779	ENSG00000114349	4393	https://pubmed.ncbi.nlm.nih.gov/?term=GNAT1	None	None	4006	114
GNAT2	G protein subunit alpha transducin 2	Progressive cone dystrophy?0011897	https://raresource.nih.gov/literature/gene/GNAT2	2780	ENSG00000134183	4394	https://pubmed.ncbi.nlm.nih.gov/?term=GNAT2	None	None	4889	133
GNB3	G protein subunit beta 3	Congenital stationary night blindness?0003995	https://raresource.nih.gov/literature/gene/GNB3	2784	ENSG00000111664	4400	https://pubmed.ncbi.nlm.nih.gov/?term=GNB3	None	None	2314	543
GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	GNE myopathy?0009493;Sialuria?0004865	https://raresource.nih.gov/literature/gene/GNE	10020	ENSG00000159921	23657	https://pubmed.ncbi.nlm.nih.gov/?term=GNE	None	None	27064	508
GNMT	glycine N-methyltransferase	Hypermethioninemia due to 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	321
GNPTAB	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	Mucolipidosis type II?0006749	https://raresource.nih.gov/literature/gene/GNPTAB	79158	ENSG00000111670	29670	https://pubmed.ncbi.nlm.nih.gov/?term=GNPTAB	None	None	22242	389
GNRH1	gonadotropin releasing hormone 1	Hypogonadotropic hypogonadism 12 with or without anosmia?0000276	https://raresource.nih.gov/literature/gene/GNRH1	2796	ENSG00000147437	4419	https://pubmed.ncbi.nlm.nih.gov/?term=GNRH1	None	None	3055	511
GNRHR	gonadotropin releasing hormone receptor	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	2099
GNS	glucosamine (N-acetyl)-6-sulfatase	Sanfilippo syndrome type D?0007074	https://raresource.nih.gov/literature/gene/GNS	2799	ENSG00000135677	4422	https://pubmed.ncbi.nlm.nih.gov/?term=GNS	None	None	12719	102
GOLGA5	golgin A5	Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/GOLGA5	9950	ENSG00000066455	4428	https://pubmed.ncbi.nlm.nih.gov/?term=GOLGA5	None	None	16365	15
GOPC	golgi associated PDZ and coiled-coil motif containing	Male infertility due to globozoospermia?0012502	https://raresource.nih.gov/literature/gene/GOPC	57120	ENSG00000047932	17643	https://pubmed.ncbi.nlm.nih.gov/?term=GOPC	None	None	11757	691
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	1108
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	128
GP1BA	glycoprotein Ib platelet subunit alpha	Bernard-Soulier syndrome?0002470;Fetal and neonatal alloimmune thrombocytopenia?0002295;Pseudo-von Willebrand disease?0008312	https://raresource.nih.gov/literature/gene/GP1BA	2811	ENSG00000185245	4439	https://pubmed.ncbi.nlm.nih.gov/?term=GP1BA	None	None	1304	1085
GP1BB	glycoprotein Ib platelet subunit beta	Bernard-Soulier syndrome?0002470;22q11.2 deletion syndrome?0010299;Fetal and neonatal alloimmune thrombocytopenia?0002295	https://raresource.nih.gov/literature/gene/GP1BB	2812	ENSG00000203618	4440	https://pubmed.ncbi.nlm.nih.gov/?term=GP1BB	None	None	2742	288
GP6	glycoprotein VI platelet	Bleeding diathesis due to glycoprotein VI deficiency?0013293	https://raresource.nih.gov/literature/gene/GP6	51206	ENSG00000088053	14388	https://pubmed.ncbi.nlm.nih.gov/?term=GP6	None	None	12902	1617
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	418
GPC3	glypican 3	Simpson-Golabi-Behmel syndrome?0007649;Nephroblastoma?0007892	https://raresource.nih.gov/literature/gene/GPC3	2719	ENSG00000147257	4451	https://pubmed.ncbi.nlm.nih.gov/?term=GPC3	None	None	73067	1560
GPC4	glypican 4	Simpson-Golabi-Behmel syndrome?0007649;Keipert syndrome?0000267	https://raresource.nih.gov/literature/gene/GPC4	2239	ENSG00000076716	4452	https://pubmed.ncbi.nlm.nih.gov/?term=GPC4	None	None	20361	176
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	96
GPD1L	glycerol-3-phosphate dehydrogenase 1 like	Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/GPD1L	23171	ENSG00000152642	28956	https://pubmed.ncbi.nlm.nih.gov/?term=GPD1L	None	None	24825	65
GPHN	gephyrin	Hereditary hyperekplexia?0003129	https://raresource.nih.gov/literature/gene/GPHN	10243	ENSG00000171723	15465	https://pubmed.ncbi.nlm.nih.gov/?term=GPHN	None	None	163430	804
GPKOW	G-patch domain and KOW motifs	Lethal intrauterine growth restriction-cortical malformation-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	63
GPR101	G protein-coupled receptor 101	Acromegaly?0005725	https://raresource.nih.gov/literature/gene/GPR101	83550	ENSG00000165370	14963	https://pubmed.ncbi.nlm.nih.gov/?term=GPR101	None	None	1860	84
GPR143	G protein-coupled receptor 143	X-linked recessive ocular albinism?0008471	https://raresource.nih.gov/literature/gene/GPR143	4935	ENSG00000101850	20145	https://pubmed.ncbi.nlm.nih.gov/?term=GPR143	None	None	5159	215
GPR161	G protein-coupled receptor 161	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	116
GPR179	G protein-coupled receptor 179	Congenital stationary night blindness?0003995	https://raresource.nih.gov/literature/gene/GPR179	440435	ENSG00000277399	31371	https://pubmed.ncbi.nlm.nih.gov/?term=GPR179	None	None	6483	44
GPR35	G protein-coupled receptor 35	Primary sclerosing cholangitis?0001280	https://raresource.nih.gov/literature/gene/GPR35	2859	ENSG00000178623	4492	https://pubmed.ncbi.nlm.nih.gov/?term=GPR35	None	None	12244	217
GPR68	G protein-coupled receptor 68	Hypomaturation amelogenesis imperfecta?0008349	https://raresource.nih.gov/literature/gene/GPR68	8111	ENSG00000119714	4519	https://pubmed.ncbi.nlm.nih.gov/?term=GPR68	None	None	6288	221
GPSM2	G protein signaling modulator 2	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	333
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	4872
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	1073
GRHPR	glyoxylate and hydroxypyruvate reductase	Primary hyperoxaluria type 2?0002836	https://raresource.nih.gov/literature/gene/GRHPR	9380	ENSG00000137106	4570	https://pubmed.ncbi.nlm.nih.gov/?term=GRHPR	None	None	6706	153
GRIN1	glutamate ionotropic receptor NMDA type subunit 1	Autosomal dominant non-syndromic intellectual disability?0012107;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant?0013686;Early infantile epileptic encephalopathy?0009255;Bilateral generalized polymicrogyria?0010786	https://raresource.nih.gov/literature/gene/GRIN1	2902	ENSG00000176884	4584	https://pubmed.ncbi.nlm.nih.gov/?term=GRIN1	None	None	15709	3689
GRIN2A	glutamate ionotropic receptor NMDA type subunit 2A	Landau-Kleffner syndrome?0006855;Continuous spikes and waves during sleep?0001513;Rolandic epilepsy?0010287	https://raresource.nih.gov/literature/gene/GRIN2A	2903	ENSG00000183454	4585	https://pubmed.ncbi.nlm.nih.gov/?term=GRIN2A	None	None	130130	2733
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B	Autosomal dominant non-syndromic intellectual disability?0012107;Intellectual developmental disorder, autosomal dominant 6, with or without seizures?0012851;Infantile spasms syndrome?0007887	https://raresource.nih.gov/literature/gene/GRIN2B	2904	ENSG00000273079	4586	https://pubmed.ncbi.nlm.nih.gov/?term=GRIN2B	None	None	108104	4166
GRIP1	glutamate receptor interacting protein 1	Fraser syndrome?0006465	https://raresource.nih.gov/literature/gene/GRIP1	23426	ENSG00000155974	18708	https://pubmed.ncbi.nlm.nih.gov/?term=GRIP1	None	None	160190	471
GRK1	G protein-coupled receptor kinase 1	Oguchi disease?0010118;Congenital stationary night blindness?0003995	https://raresource.nih.gov/literature/gene/GRK1	6011	ENSG00000185974	10013	https://pubmed.ncbi.nlm.nih.gov/?term=GRK1	None	None	10279	390
GRM6	glutamate metabotropic receptor 6	Congenital stationary night blindness?0003995	https://raresource.nih.gov/literature/gene/GRM6	2916	ENSG00000113262	4598	https://pubmed.ncbi.nlm.nih.gov/?term=GRM6	None	None	10183	305
GRM7	glutamate metabotropic receptor 7	Early infantile epileptic encephalopathy?0009255	https://raresource.nih.gov/literature/gene/GRM7	2917	ENSG00000196277	4599	https://pubmed.ncbi.nlm.nih.gov/?term=GRM7	None	None	392357	554
GRN	granulin precursor	Behavioral variant of frontotemporal dementia?0007392;Progressive non-fluent aphasia?0010793;Semantic dementia?0010792	https://raresource.nih.gov/literature/gene/GRN	2896	ENSG00000030582	4601	https://pubmed.ncbi.nlm.nih.gov/?term=GRN	None	None	3111	2237
GSN	gelsolin	AGel amyloidosis?0002339	https://raresource.nih.gov/literature/gene/GSN	2934	ENSG00000148180	4620	https://pubmed.ncbi.nlm.nih.gov/?term=GSN	None	None	44805	2888
GSTM3	glutathione S-transferase mu 3	Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/GSTM3	2947	ENSG00000134202	4635	https://pubmed.ncbi.nlm.nih.gov/?term=GSTM3	None	None	3334	380
GTF2E2	general transcription factor IIE subunit 2	Trichothiodystrophy?0012109	https://raresource.nih.gov/literature/gene/GTF2E2	2961	ENSG00000197265	4651	https://pubmed.ncbi.nlm.nih.gov/?term=GTF2E2	None	None	31413	422
GTF2H5	general transcription factor IIH subunit 5	Trichothiodystrophy?0012109	https://raresource.nih.gov/literature/gene/GTF2H5	404672	ENSG00000272047	21157	https://pubmed.ncbi.nlm.nih.gov/?term=GTF2H5	None	None	14333	882
GTF2I	general transcription factor IIi	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/GTF2I	2969	ENSG00000263001	4659	https://pubmed.ncbi.nlm.nih.gov/?term=GTF2I	None	None	40411	421
GTF2IRD1	GTF2I repeat domain containing 1	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/GTF2IRD1	9569	ENSG00000006704	4661	https://pubmed.ncbi.nlm.nih.gov/?term=GTF2IRD1	None	None	57790	231
GTF2IRD2	GTF2I repeat domain containing 2	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/GTF2IRD2	84163	ENSG00000196275	30775	https://pubmed.ncbi.nlm.nih.gov/?term=GTF2IRD2	None	None	20053	18
GUCA1A	guanylate cyclase activator 1A	Progressive cone dystrophy?0011897;Central areolar choroidal dystrophy?0010049;Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/GUCA1A	2978	ENSG00000048545	4678	https://pubmed.ncbi.nlm.nih.gov/?term=GUCA1A	None	None	10516	268
GUCA1B	guanylate cyclase activator 1B	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/GUCA1B	2979	ENSG00000112599	4679	https://pubmed.ncbi.nlm.nih.gov/?term=GUCA1B	None	None	6745	133
GUCY2D	guanylate cyclase 2D, retinal	Cone-rod dystrophy 6?0010656;Central areolar choroidal dystrophy?0010049;Cone rod dystrophy?0010790;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/GUCY2D	3000	ENSG00000132518	4689	https://pubmed.ncbi.nlm.nih.gov/?term=GUCY2D	None	None	6304	1544
GUF1	GTP binding elongation factor GUF1	Infantile spasms syndrome?0007887	https://raresource.nih.gov/literature/gene/GUF1	60558	ENSG00000151806	25799	https://pubmed.ncbi.nlm.nih.gov/?term=GUF1	None	None	9176	65
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	9150
GYPC	glycophorin C (Gerbich blood group)	Hereditary elliptocytosis?0006621	https://raresource.nih.gov/literature/gene/GYPC	2995	ENSG00000136732	4704	https://pubmed.ncbi.nlm.nih.gov/?term=GYPC	None	None	18029	1920
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	222
GYS2	glycogen synthase 2	Glycogen storage disease 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	907
H19	H19 imprinted maternally expressed transcript	Nephroblastoma?0007892;Isolated hemihyperplasia?0002630	https://raresource.nih.gov/literature/gene/H19	283120	ENSG00000130600	4713	https://pubmed.ncbi.nlm.nih.gov/?term=H19	None	None	2537	3850
H19-ICR	H19-IGF2-imprinting control region	Wilms tumor 2?0008559	https://raresource.nih.gov/literature/gene/H19-ICR	105259599			https://pubmed.ncbi.nlm.nih.gov/?term=H19-ICR	None	None	None	301
H6PD	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	Hyperandrogenism due to 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	4732
HABP2	hyaluronan binding protein 2	Familial papillary or follicular thyroid carcinoma?0008488	https://raresource.nih.gov/literature/gene/HABP2	3026	ENSG00000148702	4798	https://pubmed.ncbi.nlm.nih.gov/?term=HABP2	None	None	15708	7271
HACD1	3-hydroxyacyl-CoA dehydratase 1	Congenital fiber-type disproportion myopathy?0006161	https://raresource.nih.gov/literature/gene/HACD1	9200	ENSG00000165996	9639	https://pubmed.ncbi.nlm.nih.gov/?term=HACD1	None	None	13531	8
HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	Neuroblastoma?0007185	https://raresource.nih.gov/literature/gene/HACE1	57531	ENSG00000085382	21033	https://pubmed.ncbi.nlm.nih.gov/?term=HACE1	None	None	52235	121
HADH	hydroxyacyl-CoA dehydrogenase	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency?0009870	https://raresource.nih.gov/literature/gene/HADH	3033	ENSG00000138796	4799	https://pubmed.ncbi.nlm.nih.gov/?term=HADH	None	None	17606	820
HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	Mitochondrial trifunctional protein deficiency?0003684;Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency?0006867;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	706
HADHB	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta	Mitochondrial trifunctional protein deficiency?0003684	https://raresource.nih.gov/literature/gene/HADHB	3032	ENSG00000138029	4803	https://pubmed.ncbi.nlm.nih.gov/?term=HADHB	None	None	19217	366
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	1078
HAMP	hepcidin antimicrobial peptide	Hemochromatosis type 2?0010092	https://raresource.nih.gov/literature/gene/HAMP	57817	ENSG00000105697	15598	https://pubmed.ncbi.nlm.nih.gov/?term=HAMP	None	None	2143	5312
HAND2	heart and neural crest derivatives expressed 2	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/HAND2	9464	ENSG00000164107	4808	https://pubmed.ncbi.nlm.nih.gov/?term=HAND2	None	None	3580	646
HARS1	histidyl-tRNA synthetase 1	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	593
HARS2	histidyl-tRNA synthetase 2, mitochondrial	Perrault syndrome?0002542	https://raresource.nih.gov/literature/gene/HARS2	23438	ENSG00000112855	4817	https://pubmed.ncbi.nlm.nih.gov/?term=HARS2	None	None	3204	128
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	3148
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	315
HBA1	hemoglobin subunit alpha 1	Hemoglobin M disease?0013007	https://raresource.nih.gov/literature/gene/HBA1	3039	ENSG00000206172	4823	https://pubmed.ncbi.nlm.nih.gov/?term=HBA1	None	None	1679	1359
HBA2	hemoglobin subunit alpha 2	Hemoglobin M disease?0013007	https://raresource.nih.gov/literature/gene/HBA2	3040	ENSG00000188536	4824	https://pubmed.ncbi.nlm.nih.gov/?term=HBA2	None	None	1733	1599
HBB	hemoglobin subunit beta	Sickle cell anemia?0008614;Sickle cell-hemoglobin C disease syndrome?0006584;Sickle cell-beta-thalassemia disease syndrome?0010333;Hemoglobin M disease?0013007;Sickle cell-hemoglobin D disease syndrome?0012458;Hemoglobin E disease?0002641;Hemoglobin C disease?0002640	https://raresource.nih.gov/literature/gene/HBB	3043	ENSG00000244734	4827	https://pubmed.ncbi.nlm.nih.gov/?term=HBB	None	None	3340	3326
HCCS	holocytochrome c synthase	Microphthalmia with linear skin defects syndrome?0003659	https://raresource.nih.gov/literature/gene/HCCS	3052	ENSG00000004961	4837	https://pubmed.ncbi.nlm.nih.gov/?term=HCCS	None	None	1553	315
HCN4	hyperpolarization activated cyclic nucleotide gated potassium channel 4	Familial sick sinus syndrome?0013663;Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/HCN4	10021	ENSG00000138622	16882	https://pubmed.ncbi.nlm.nih.gov/?term=HCN4	None	None	13141	694
HCRT	hypocretin neuropeptide precursor	Narcolepsy type 1?0007162	https://raresource.nih.gov/literature/gene/HCRT	3060	ENSG00000161610	4847	https://pubmed.ncbi.nlm.nih.gov/?term=HCRT	None	None	1494	4053
HDAC4	histone deacetylase 4	2q37 microdeletion syndrome?0010202	https://raresource.nih.gov/literature/gene/HDAC4	9759	ENSG00000068024	14063	https://pubmed.ncbi.nlm.nih.gov/?term=HDAC4	None	None	144293	1492
HDAC8	histone deacetylase 8	Wilson-Turner syndrome?0005579;Cornelia 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	1207
HELLPAR	HELLP associated long non-coding RNA	HELLP syndrome?0008528	https://raresource.nih.gov/literature/gene/HELLPAR	101101692	ENSG00000281344	43984	https://pubmed.ncbi.nlm.nih.gov/?term=HELLPAR	None	None	29652	6
HELLS	helicase, lymphoid specific	ICF syndrome?0002945	https://raresource.nih.gov/literature/gene/HELLS	3070	ENSG00000119969	4861	https://pubmed.ncbi.nlm.nih.gov/?term=HELLS	None	None	31274	313
HEPACAM	hepatic and glial cell adhesion molecule	Megalencephalic leukoencephalopathy with subcortical cysts?0003445	https://raresource.nih.gov/literature/gene/HEPACAM	220296	ENSG00000165478	26361	https://pubmed.ncbi.nlm.nih.gov/?term=HEPACAM	None	None	4925	181
HES7	hes family bHLH transcription factor 7	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	108
HESX1	HESX homeobox 1	Pituitary stalk interruption syndrome?0013209;Combined pituitary hormone deficiencies, genetic forms?0010602;Septo-optic dysplasia spectrum?0007627;Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/HESX1	8820	ENSG00000163666	4877	https://pubmed.ncbi.nlm.nih.gov/?term=HESX1	None	None	11521	3271
HEXB	hexosaminidase subunit beta	Sandhoff disease, infantile form?0007604	https://raresource.nih.gov/literature/gene/HEXB	3074	ENSG00000049860	4879	https://pubmed.ncbi.nlm.nih.gov/?term=HEXB	None	None	32433	338
HEY2	hes related family bHLH transcription factor with YRPW motif 2	Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/HEY2	23493	ENSG00000135547	4881	https://pubmed.ncbi.nlm.nih.gov/?term=HEY2	None	None	6792	478
HFE	homeostatic iron regulator	Cystic fibrosis?0006233;Symptomatic form of hemochromatosis type 1?0010417	https://raresource.nih.gov/literature/gene/HFE	3077	ENSG00000010704	4886	https://pubmed.ncbi.nlm.nih.gov/?term=HFE	None	None	6500	429
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	336
HGSNAT	heparan-alpha-glucosaminide N-acetyltransferase	Sanfilippo syndrome type C?0007073;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/HGSNAT	138050	ENSG00000165102	26527	https://pubmed.ncbi.nlm.nih.gov/?term=HGSNAT	None	None	27078	65
HHT3	Hereditary hemorrhagic telangiectasia, type 3	Telangiectasia, hereditary hemorrhagic, type 3?0009902	https://raresource.nih.gov/literature/gene/HHT3	780903			https://pubmed.ncbi.nlm.nih.gov/?term=HHT3	None	None	None	11
HHT4	Telangiectasia, hereditary hemorrhagic, type 4	Telangiectasia, hereditary hemorrhagic, type 4?0010615	https://raresource.nih.gov/literature/gene/HHT4	791087			https://pubmed.ncbi.nlm.nih.gov/?term=HHT4	None	None	None	3
HIBCH	3-hydroxyisobutyryl-CoA hydrolase	Neurodegeneration due to 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	71
HIC1	HIC ZBTB transcriptional repressor 1	Miller-Dieker syndrome?0003669	https://raresource.nih.gov/literature/gene/HIC1	3090	ENSG00000177374	4909	https://pubmed.ncbi.nlm.nih.gov/?term=HIC1	None	None	3425	56
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	2
HIRA	histone cell cycle regulator	22q11.2 deletion syndrome?0010299	https://raresource.nih.gov/literature/gene/HIRA	7290	ENSG00000100084	4916	https://pubmed.ncbi.nlm.nih.gov/?term=HIRA	None	None	32240	628
HIVEP2	HIVEP zinc finger 2	Autosomal dominant non-syndromic intellectual disability?0012107;Intellectual developmental disorder, autosomal dominant 43?0013179	https://raresource.nih.gov/literature/gene/HIVEP2	3097	ENSG00000010818	4921	https://pubmed.ncbi.nlm.nih.gov/?term=HIVEP2	None	None	73395	97
HJV	hemojuvelin BMP co-receptor	Hemochromatosis type 2?0010092	https://raresource.nih.gov/literature/gene/HJV	148738	ENSG00000168509	4887	https://pubmed.ncbi.nlm.nih.gov/?term=HJV	None	None	10491	2549
HK1	hexokinase 1	Non-spherocytic hemolytic anemia due to hexokinase deficiency?0003672;Charcot-Marie-Tooth disease type 4G?0010132	https://raresource.nih.gov/literature/gene/HK1	3098	ENSG00000156515	4922	https://pubmed.ncbi.nlm.nih.gov/?term=HK1	None	None	51191	7780
HLA-A	major histocompatibility complex, class I, A	Birdshot chorioretinopathy?0005926	https://raresource.nih.gov/literature/gene/HLA-A	3105	ENSG00000206503	4931	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-A	None	None	9277	123
HLA-B	major histocompatibility complex, class I, B	Takayasu arteritis?0007730;Stevens-Johnson syndrome?0007700;Reactive arthritis?0005693;Giant cell arteritis?0009615;Behçet disease?0000848	https://raresource.nih.gov/literature/gene/HLA-B	3106	ENSG00000234745	4932	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-B	None	None	8438	3951
HLA-DPA1	major histocompatibility complex, class II, DP alpha 1	Granulomatosis with polyangiitis?0007880	https://raresource.nih.gov/literature/gene/HLA-DPA1	3113	ENSG00000231389	4938	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-DPA1	None	None	5839	963
HLA-DPB1	major histocompatibility complex, class II, DP beta 1	Chronic beryllium disease?0000867;Granulomatosis with polyangiitis?0007880	https://raresource.nih.gov/literature/gene/HLA-DPB1	3115	ENSG00000223865	4940	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-DPB1	None	None	3991	1657
HLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	Idiopathic achalasia?0005708	https://raresource.nih.gov/literature/gene/HLA-DQA1	3117	ENSG00000196735	4942	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-DQA1	None	None	10477	444
HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	Bullous pemphigoid?0005972;Idiopathic achalasia?0005708;Pediatric multiple sclerosis?0010443;Narcolepsy type 1?0007162	https://raresource.nih.gov/literature/gene/HLA-DQB1	3119	ENSG00000179344	4944	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-DQB1	None	None	10165	1133
HLA-DRA	major histocompatibility complex, class II, DR alpha	Graham Little-Piccardi-Lassueur syndrome?0003195	https://raresource.nih.gov/literature/gene/HLA-DRA	3122	ENSG00000204287	4947	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-DRA	None	None	3598	367
HLA-DRB1	major histocompatibility complex, class II, DR beta 1	Pediatric multiple sclerosis?0010443;Limited cutaneous systemic sclerosis?0001053;Systemic-onset juvenile idiopathic arthritis?0010966;Follicular lymphoma?0002356;Sarcoidosis?0007607;Bullous pemphigoid?0005972;Autoimmune pulmonary alveolar proteinosis?0007499;Narcolepsy type 1?0007162;Giant cell arteritis?0009615;Diffuse cutaneous systemic sclerosis?0009751;Limited systemic sclerosis?0009749	https://raresource.nih.gov/literature/gene/HLA-DRB1	3123	ENSG00000196126	4948	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-DRB1	None	None	21885	5048
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	593
HMBS	hydroxymethylbilane synthase	Acute intermittent porphyria?0005732	https://raresource.nih.gov/literature/gene/HMBS	3145	ENSG00000256269	4982	https://pubmed.ncbi.nlm.nih.gov/?term=HMBS	None	None	4140	1121
HMGA2	high mobility group AT-hook 2	12q14 microdeletion syndrome?0013390	https://raresource.nih.gov/literature/gene/HMGA2	8091	ENSG00000149948	5009	https://pubmed.ncbi.nlm.nih.gov/?term=HMGA2	None	None	44494	1851
HMGCL	3-hydroxy-3-methylglutaryl-CoA lyase	3-hydroxy-3-methylglutaric aciduria?0008387	https://raresource.nih.gov/literature/gene/HMGCL	3155	ENSG00000117305	5005	https://pubmed.ncbi.nlm.nih.gov/?term=HMGCL	None	None	16279	1243
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	521
HMOX1	heme oxygenase 1	Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/HMOX1	3162	ENSG00000100292	5013	https://pubmed.ncbi.nlm.nih.gov/?term=HMOX1	None	None	6734	20367
HNF1A	HNF1 homeobox A	Chromophobe renal cell carcinoma?0006064;MODY?0003697	https://raresource.nih.gov/literature/gene/HNF1A	6927	ENSG00000135100	11621	https://pubmed.ncbi.nlm.nih.gov/?term=HNF1A	None	None	9783	3540
HNF1B	HNF1 homeobox B	Medullary sponge kidney?0000232;Familial prostate cancer?0004520;17q12 microdeletion syndrome?0013297;Bilateral multicystic dysplastic kidney?0009517	https://raresource.nih.gov/literature/gene/HNF1B	6928	ENSG00000275410	11630	https://pubmed.ncbi.nlm.nih.gov/?term=HNF1B	None	None	16224	935
HNF4A	hepatocyte nuclear factor 4 alpha	MODY?0003697	https://raresource.nih.gov/literature/gene/HNF4A	3172	ENSG00000101076	5024	https://pubmed.ncbi.nlm.nih.gov/?term=HNF4A	None	None	24961	5585
HNRNPA1	heterogeneous nuclear ribonucleoprotein A1	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia?0010899;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/HNRNPA1	3178	ENSG00000135486	5031	https://pubmed.ncbi.nlm.nih.gov/?term=HNRNPA1	None	None	3230	1010
HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia?0010899	https://raresource.nih.gov/literature/gene/HNRNPA2B1	3181	ENSG00000122566	5033	https://pubmed.ncbi.nlm.nih.gov/?term=HNRNPA2B1	None	None	9737	550
HNRNPU	heterogeneous nuclear ribonucleoprotein U	1q44 microdeletion syndrome?0010943	https://raresource.nih.gov/literature/gene/HNRNPU	3192	ENSG00000153187	5048	https://pubmed.ncbi.nlm.nih.gov/?term=HNRNPU	None	None	8970	453
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	90
HOXA1	homeobox A1	Athabaskan brainstem dysgenesis syndrome?0008333	https://raresource.nih.gov/literature/gene/HOXA1	3198	ENSG00000105991	5099	https://pubmed.ncbi.nlm.nih.gov/?term=HOXA1	None	None	2144	476
HOXA13	homeobox A13	Hand-foot-genital syndrome?0002594;Guttmacher syndrome?0004470	https://raresource.nih.gov/literature/gene/HOXA13	3209	ENSG00000106031	5102	https://pubmed.ncbi.nlm.nih.gov/?term=HOXA13	None	None	3198	362
HOXB13	homeobox B13	Familial prostate cancer?0004520	https://raresource.nih.gov/literature/gene/HOXB13	10481	ENSG00000159184	5112	https://pubmed.ncbi.nlm.nih.gov/?term=HOXB13	None	None	3726	418
HOXD13	homeobox D13	VACTERL/VATER association?0005443;Brachydactyly type E?0000987;Syndactyly type 5?0005089	https://raresource.nih.gov/literature/gene/HOXD13	3239	ENSG00000128714	5136	https://pubmed.ncbi.nlm.nih.gov/?term=HOXD13	None	None	3006	614
HPCA	hippocalcin	Primary dystonia, DYT2 type?0002028	https://raresource.nih.gov/literature/gene/HPCA	3208	ENSG00000121905	5144	https://pubmed.ncbi.nlm.nih.gov/?term=HPCA	None	None	3681	186
HPD	4-hydroxyphenylpyruvate dioxygenase	Hawkinsinuria?0005668;Tyrosinemia type 3?0010332	https://raresource.nih.gov/literature/gene/HPD	3242	ENSG00000158104	5147	https://pubmed.ncbi.nlm.nih.gov/?term=HPD	None	None	9000	1182
HPGD	15-hydroxyprostaglandin dehydrogenase	Cranio-osteoarthropathy?0001564;Pachydermoperiostosis?0007299	https://raresource.nih.gov/literature/gene/HPGD	3248	ENSG00000164120	5154	https://pubmed.ncbi.nlm.nih.gov/?term=HPGD	None	None	13696	969
HPRT1	hypoxanthine phosphoribosyltransferase 1	Lesch-Nyhan syndrome?0007226	https://raresource.nih.gov/literature/gene/HPRT1	3251	ENSG00000165704	5157	https://pubmed.ncbi.nlm.nih.gov/?term=HPRT1	None	None	11414	4275
HPSE2	heparanase 2 (inactive)	Ochoa syndrome?0000104	https://raresource.nih.gov/literature/gene/HPSE2	60495	ENSG00000172987	18374	https://pubmed.ncbi.nlm.nih.gov/?term=HPSE2	None	None	279046	114
HR	HR lysine demethylase and nuclear receptor corepressor	Alopecia universalis?0000614;Marie Unna hereditary hypotrichosis?0003390	https://raresource.nih.gov/literature/gene/HR	55806	ENSG00000168453	5172	https://pubmed.ncbi.nlm.nih.gov/?term=HR	None	None	9964	2403
HRAS	HRas proto-oncogene, GTPase	Costello syndrome?0001550;Linear nevus sebaceus syndrome?0010291;Thyroid cancer, nonmedullary, 2?0005206;Woolly hair nevus?0013025;Phakomatosis pigmentokeratotica?0004311;Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/HRAS	3265	ENSG00000174775	5173	https://pubmed.ncbi.nlm.nih.gov/?term=HRAS	None	None	2908	3362
HS6ST1	heparan sulfate 6-O-sulfotransferase 1	Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/HS6ST1	9394	ENSG00000136720	5201	https://pubmed.ncbi.nlm.nih.gov/?term=HS6ST1	None	None	33051	103
HSD11B1	hydroxysteroid 11-beta dehydrogenase 1	Hyperandrogenism due to 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	14096
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	708
HSD17B3	hydroxysteroid 17-beta dehydrogenase 3	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency?0005659	https://raresource.nih.gov/literature/gene/HSD17B3	3293	ENSG00000130948	5212	https://pubmed.ncbi.nlm.nih.gov/?term=HSD17B3	None	None	27469	359
HSD17B4	hydroxysteroid 17-beta dehydrogenase 4	Perrault syndrome?0002542;Bifunctional enzyme deficiency?0004539	https://raresource.nih.gov/literature/gene/HSD17B4	3295	ENSG00000133835	5213	https://pubmed.ncbi.nlm.nih.gov/?term=HSD17B4	None	None	53398	1443
HSD3B2	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	Congenital adrenal hyperplasia due to 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	539
HSD3B7	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	Congenital bile acid synthesis defect type 1?0009813	https://raresource.nih.gov/literature/gene/HSD3B7	80270	ENSG00000099377	18324	https://pubmed.ncbi.nlm.nih.gov/?term=HSD3B7	None	None	1514	54
HSF4	heat shock transcription factor 4	Total early-onset cataract?0001159	https://raresource.nih.gov/literature/gene/HSF4	3299	ENSG00000102878	5227	https://pubmed.ncbi.nlm.nih.gov/?term=HSF4	None	None	1941	208
HSPB1	heat shock protein family B (small) member 1	Autosomal dominant Charcot-Marie-Tooth disease type 2F?0009194	https://raresource.nih.gov/literature/gene/HSPB1	3315	ENSG00000106211	5246	https://pubmed.ncbi.nlm.nih.gov/?term=HSPB1	None	None	2959	5030
HSPBAP1	HSPB1 associated protein 1	Hereditary clear cell renal cell carcinoma?0009571	https://raresource.nih.gov/literature/gene/HSPBAP1	79663	ENSG00000169087	16389	https://pubmed.ncbi.nlm.nih.gov/?term=HSPBAP1	None	None	19385	15
HSPD1	heat shock protein family D (Hsp60) member 1	Autosomal dominant spastic paraplegia type 13?0009616	https://raresource.nih.gov/literature/gene/HSPD1	3329	ENSG00000144381	5261	https://pubmed.ncbi.nlm.nih.gov/?term=HSPD1	None	None	6298	7921
HSPG2	heparan sulfate proteoglycan 2	1p36 deletion syndrome?0006082;Schwartz-Jampel syndrome?0000250;Dyssegmental dysplasia, Silverman-Handmaker type?0002026	https://raresource.nih.gov/literature/gene/HSPG2	3339	ENSG00000142798	5273	https://pubmed.ncbi.nlm.nih.gov/?term=HSPG2	None	None	47448	6534
HTRA1	HtrA serine peptidase 1	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy?0010424	https://raresource.nih.gov/literature/gene/HTRA1	5654	ENSG00000166033	9476	https://pubmed.ncbi.nlm.nih.gov/?term=HTRA1	None	None	21910	908
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	5450
HUWE1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	Intellectual developmental disorder, 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	337
HYDIN	HYDIN axonemal central pair apparatus protein	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	77
HYLS1	HYLS1 centriolar and ciliogenesis associated	Hydrolethalus?0006683;Joubert syndrome?0006802	https://raresource.nih.gov/literature/gene/HYLS1	219844	ENSG00000198331	26558	https://pubmed.ncbi.nlm.nih.gov/?term=HYLS1	None	None	4191	35
HYMAI	hydatidiform mole associated and imprinted	Transient neonatal diabetes mellitus?0001839	https://raresource.nih.gov/literature/gene/HYMAI	57061	ENSG00000283122	5326	https://pubmed.ncbi.nlm.nih.gov/?term=HYMAI	None	None	None	28
ICOS	inducible T cell costimulator	Common variable immunodeficiency?0006140	https://raresource.nih.gov/literature/gene/ICOS	29851	ENSG00000163600	5351	https://pubmed.ncbi.nlm.nih.gov/?term=ICOS	None	None	9593	2215
IDH1	isocitrate dehydrogenase (NADP(+)) 1	Ollier disease?0007251;Maffucci syndrome?0006958;Gliosarcoma?0005653	https://raresource.nih.gov/literature/gene/IDH1	3417	ENSG00000138413	5382	https://pubmed.ncbi.nlm.nih.gov/?term=IDH1	None	None	8568	8079
IDH2	isocitrate dehydrogenase (NADP(+)) 2	Maffucci syndrome?0006958;D-2-hydroxyglutaric aciduria?0005661;Oligoastrocytoma?0009769;Anaplastic oligodendroglioma?0009472;Anaplastic astrocytoma?0005860;Ollier disease?0007251;Anaplastic oligoastrocytoma?0010637;Oligodendroglioma?0009953	https://raresource.nih.gov/literature/gene/IDH2	3418	ENSG00000182054	5383	https://pubmed.ncbi.nlm.nih.gov/?term=IDH2	None	None	7797	5956
IDH3A	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/IDH3A	3419	ENSG00000166411	5384	https://pubmed.ncbi.nlm.nih.gov/?term=IDH3A	None	None	11138	62
IDH3B	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/IDH3B	3420	ENSG00000101365	5385	https://pubmed.ncbi.nlm.nih.gov/?term=IDH3B	None	None	2551	33
IDUA	alpha-L-iduronidase	Hurler syndrome?0012559;Scheie syndrome?0012561;Hurler-Scheie syndrome?0012560	https://raresource.nih.gov/literature/gene/IDUA	3425	ENSG00000127415	5391	https://pubmed.ncbi.nlm.nih.gov/?term=IDUA	None	None	8672	1215
IFIH1	interferon induced with helicase C domain 1	Singleton-Merten dysplasia?0000122;Aicardi-Goutières syndrome?0000575	https://raresource.nih.gov/literature/gene/IFIH1	64135	ENSG00000115267	18873	https://pubmed.ncbi.nlm.nih.gov/?term=IFIH1	None	None	20255	2478
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	134
IFNG	interferon gamma	Tuberous sclerosis complex?0007830;Idiopathic aplastic anemia?0005836	https://raresource.nih.gov/literature/gene/IFNG	3458	ENSG00000111537	5438	https://pubmed.ncbi.nlm.nih.gov/?term=IFNG	None	None	2542	70733
IFNGR1	interferon gamma receptor 1	Behçet disease?0000848;Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency?0009185	https://raresource.nih.gov/literature/gene/IFNGR1	3459	ENSG00000027697	5439	https://pubmed.ncbi.nlm.nih.gov/?term=IFNGR1	None	None	10602	682
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	342
IFT122	intraflagellar transport 122	Cranioectodermal dysplasia?0000359;Short rib-polydactyly syndrome, Beemer-Langer type?0004832	https://raresource.nih.gov/literature/gene/IFT122	55764	ENSG00000163913	13556	https://pubmed.ncbi.nlm.nih.gov/?term=IFT122	None	None	33303	198
IFT140	intraflagellar transport 140	Retinitis pigmentosa?0005694;Autosomal dominant polycystic kidney disease?0010413;Leber congenital amaurosis?0000634;Jeune syndrome?0003049;Saldino-Mainzer syndrome?0008600	https://raresource.nih.gov/literature/gene/IFT140	9742	ENSG00000187535	29077	https://pubmed.ncbi.nlm.nih.gov/?term=IFT140	None	None	31398	98
IFT172	intraflagellar transport 172	Jeune syndrome?0003049;Bardet-Biedl syndrome?0006866;Retinitis pigmentosa?0005694;Saldino-Mainzer syndrome?0008600	https://raresource.nih.gov/literature/gene/IFT172	26160	ENSG00000138002	30391	https://pubmed.ncbi.nlm.nih.gov/?term=IFT172	None	None	18681	110
IFT27	intraflagellar transport 27	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	45
IFT43	intraflagellar transport 43	Cranioectodermal dysplasia?0000359	https://raresource.nih.gov/literature/gene/IFT43	112752	ENSG00000119650	29669	https://pubmed.ncbi.nlm.nih.gov/?term=IFT43	None	None	23896	49
IFT52	intraflagellar transport 52	Cranioectodermal dysplasia?0000359	https://raresource.nih.gov/literature/gene/IFT52	51098	ENSG00000101052	15901	https://pubmed.ncbi.nlm.nih.gov/?term=IFT52	None	None	16642	47
IFT74	intraflagellar transport 74	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	65
IFT80	intraflagellar transport 80	Short rib-polydactyly syndrome, Beemer-Langer type?0004832;Jeune syndrome?0003049;Short rib-polydactyly syndrome, Verma-Naumoff type?0004835	https://raresource.nih.gov/literature/gene/IFT80	57560	ENSG00000068885	29262	https://pubmed.ncbi.nlm.nih.gov/?term=IFT80	None	None	50416	61
IFT88	intraflagellar transport 88	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/IFT88	8100	ENSG00000032742	20606	https://pubmed.ncbi.nlm.nih.gov/?term=IFT88	None	None	41008	399
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	1142
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	45779
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	6674
IGF2	insulin like growth factor 2	Isolated hemihyperplasia?0002630	https://raresource.nih.gov/literature/gene/IGF2	3481	ENSG00000167244	5466	https://pubmed.ncbi.nlm.nih.gov/?term=IGF2	None	None	7974	9782
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	1565
IGH	immunoglobulin heavy locus	Follicular lymphoma?0002356;MALT lymphoma?0006485;Mantle cell lymphoma?0006969	https://raresource.nih.gov/literature/gene/IGH	3492		5477	https://pubmed.ncbi.nlm.nih.gov/?term=IGH	None	None	None	6461
IGHG1	immunoglobulin heavy constant gamma 1 (G1m marker)	B-cell chronic lymphocytic leukemia?0006104	https://raresource.nih.gov/literature/gene/IGHG1	3500	ENSG00000211896	5525	https://pubmed.ncbi.nlm.nih.gov/?term=IGHG1	None	None	8514	112
IGHM	immunoglobulin heavy constant mu	Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/IGHM	3507	ENSG00000211899	5541	https://pubmed.ncbi.nlm.nih.gov/?term=IGHM	None	None	3904	3953
IGHMBP2	immunoglobulin mu DNA binding protein 2	Spinal muscular atrophy with respiratory distress type 1?0008592	https://raresource.nih.gov/literature/gene/IGHMBP2	3508	ENSG00000132740	5542	https://pubmed.ncbi.nlm.nih.gov/?term=IGHMBP2	None	None	15709	180
IGHV3-21	immunoglobulin heavy variable 3-21	B-cell chronic lymphocytic leukemia?0006104	https://raresource.nih.gov/literature/gene/IGHV3-21	28444	ENSG00000211947	5586	https://pubmed.ncbi.nlm.nih.gov/?term=IGHV3-21	None	None	2274	1933
IGLL1	immunoglobulin lambda like polypeptide 1	Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/IGLL1	3543	ENSG00000128322	5870	https://pubmed.ncbi.nlm.nih.gov/?term=IGLL1	None	None	3807	188
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	1082
IKBKG	inhibitor of nuclear factor kappa B kinase regulatory subunit gamma	Incontinentia pigmenti?0006778;X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency?0012915;Hypohidrotic ectodermal dysplasia with immunodeficiency?0009936	https://raresource.nih.gov/literature/gene/IKBKG	8517	ENSG00000269335	5961	https://pubmed.ncbi.nlm.nih.gov/?term=IKBKG	None	None	3057	1859
IKZF1	IKAROS family zinc finger 1	Stevens-Johnson syndrome?0007700	https://raresource.nih.gov/literature/gene/IKZF1	10320	ENSG00000185811	13176	https://pubmed.ncbi.nlm.nih.gov/?term=IKZF1	None	None	40629	1939
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	425
IL10	interleukin 10	Behçet disease?0000848;Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome?0013016	https://raresource.nih.gov/literature/gene/IL10	3586	ENSG00000136634	5962	https://pubmed.ncbi.nlm.nih.gov/?term=IL10	None	None	1933	74719
IL10RA	interleukin 10 receptor subunit alpha	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome?0013016	https://raresource.nih.gov/literature/gene/IL10RA	3587	ENSG00000110324	5964	https://pubmed.ncbi.nlm.nih.gov/?term=IL10RA	None	None	4721	472
IL10RB	interleukin 10 receptor subunit beta	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome?0013016	https://raresource.nih.gov/literature/gene/IL10RB	3588	ENSG00000243646	5965	https://pubmed.ncbi.nlm.nih.gov/?term=IL10RB	None	None	8996	882
IL12A	interleukin 12A	Behçet disease?0000848;Primary biliary cholangitis?0007459	https://raresource.nih.gov/literature/gene/IL12A	3592	ENSG00000168811	5969	https://pubmed.ncbi.nlm.nih.gov/?term=IL12A	None	None	3794	2372
IL12A-AS1	IL12A antisense RNA 1	Behçet disease?0000848	https://raresource.nih.gov/literature/gene/IL12A-AS1	101928376	ENSG00000244040	49094	https://pubmed.ncbi.nlm.nih.gov/?term=IL12A-AS1	None	None	99749	3
IL12B	interleukin 12B	Takayasu arteritis?0007730	https://raresource.nih.gov/literature/gene/IL12B	3593	ENSG00000113302	5970	https://pubmed.ncbi.nlm.nih.gov/?term=IL12B	None	None	6655	1130
IL12RB1	interleukin 12 receptor subunit beta 1	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency?0010984;Primary biliary cholangitis?0007459	https://raresource.nih.gov/literature/gene/IL12RB1	3594	ENSG00000096996	5971	https://pubmed.ncbi.nlm.nih.gov/?term=IL12RB1	None	None	12725	252
IL17F	interleukin 17F	Chronic mucocutaneous candidiasis?0001077	https://raresource.nih.gov/literature/gene/IL17F	112744	ENSG00000112116	16404	https://pubmed.ncbi.nlm.nih.gov/?term=IL17F	None	None	4272	2635
IL17RA	interleukin 17 receptor A	Chronic mucocutaneous candidiasis?0001077	https://raresource.nih.gov/literature/gene/IL17RA	23765	ENSG00000177663	5985	https://pubmed.ncbi.nlm.nih.gov/?term=IL17RA	None	None	10792	818
IL17RC	interleukin 17 receptor C	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	100
IL17RD	interleukin 17 receptor D	Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/IL17RD	54756	ENSG00000144730	17616	https://pubmed.ncbi.nlm.nih.gov/?term=IL17RD	None	None	33827	183
IL1RN	interleukin 1 receptor antagonist	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	8466
IL23R	interleukin 23 receptor	Behçet disease?0000848	https://raresource.nih.gov/literature/gene/IL23R	149233	ENSG00000162594	19100	https://pubmed.ncbi.nlm.nih.gov/?term=IL23R	None	None	45379	955
IL2RA	interleukin 2 receptor subunit alpha	Oligoarticular juvenile idiopathic arthritis?0004261;Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis?0003931	https://raresource.nih.gov/literature/gene/IL2RA	3559	ENSG00000134460	6008	https://pubmed.ncbi.nlm.nih.gov/?term=IL2RA	None	None	21563	3
IL2RB	interleukin 2 receptor subunit beta	Oligoarticular juvenile idiopathic arthritis?0004261;Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis?0003931	https://raresource.nih.gov/literature/gene/IL2RB	3560	ENSG00000100385	6009	https://pubmed.ncbi.nlm.nih.gov/?term=IL2RB	None	None	10263	3241
IL2RG	interleukin 2 receptor subunit gamma	T-B+ severe combined immunodeficiency due to gamma chain deficiency?0005618;Omenn syndrome?0008198	https://raresource.nih.gov/literature/gene/IL2RG	3561	ENSG00000147168	6010	https://pubmed.ncbi.nlm.nih.gov/?term=IL2RG	None	None	1306	1162
IL36RN	interleukin 36 receptor antagonist	Pustulosis palmaris et plantaris?0012820;Generalized pustular psoriasis?0012819	https://raresource.nih.gov/literature/gene/IL36RN	26525	ENSG00000136695	15561	https://pubmed.ncbi.nlm.nih.gov/?term=IL36RN	None	None	3408	362
IL6	interleukin 6	Systemic-onset juvenile idiopathic arthritis?0010966	https://raresource.nih.gov/literature/gene/IL6	3569	ENSG00000136244	6018	https://pubmed.ncbi.nlm.nih.gov/?term=IL6	None	None	3676	173653
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	5834
IL7R	interleukin 7 receptor	Omenn syndrome?0008198	https://raresource.nih.gov/literature/gene/IL7R	3575	ENSG00000168685	6024	https://pubmed.ncbi.nlm.nih.gov/?term=IL7R	None	None	13147	2441
IMPDH1	inosine monophosphate dehydrogenase 1	Retinitis pigmentosa?0005694;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/IMPDH1	3614	ENSG00000106348	6052	https://pubmed.ncbi.nlm.nih.gov/?term=IMPDH1	None	None	8668	183
IMPDH2	inosine monophosphate dehydrogenase 2	Autosomal dominant dopa-responsive dystonia?0009817	https://raresource.nih.gov/literature/gene/IMPDH2	3615	ENSG00000178035	6053	https://pubmed.ncbi.nlm.nih.gov/?term=IMPDH2	None	None	2932	248
IMPG1	interphotoreceptor matrix proteoglycan 1	Adult-onset foveomacular vitelliform dystrophy?0010909;Benign concentric annular macular dystrophy?0009887;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/IMPG1	3617	ENSG00000112706	6055	https://pubmed.ncbi.nlm.nih.gov/?term=IMPG1	None	None	58187	40
IMPG2	interphotoreceptor matrix proteoglycan 2	Adult-onset foveomacular vitelliform dystrophy?0010909;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/IMPG2	50939	ENSG00000081148	18362	https://pubmed.ncbi.nlm.nih.gov/?term=IMPG2	None	None	36105	51
INF2	inverted formin, FH2 and WH2 domain containing	Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/INF2	64423	ENSG00000203485	23791	https://pubmed.ncbi.nlm.nih.gov/?term=INF2	None	None	11517	189
INO80	INO80 complex ATPase subunit	Combined immunodeficiency with granulomatosis?0013587	https://raresource.nih.gov/literature/gene/INO80	54617	ENSG00000128908	26956	https://pubmed.ncbi.nlm.nih.gov/?term=INO80	None	None	53607	367
INPP5E	inositol polyphosphate-5-phosphatase E	Joubert syndrome with ocular defect?0010168;Joubert syndrome?0006802;MORM syndrome?0010121;Joubert syndrome with hepatic defect?0001410	https://raresource.nih.gov/literature/gene/INPP5E	56623	ENSG00000148384	21474	https://pubmed.ncbi.nlm.nih.gov/?term=INPP5E	None	None	6576	157
INPP5K	inositol polyphosphate-5-phosphatase K	Marinesco-Sjögren syndrome?0008341	https://raresource.nih.gov/literature/gene/INPP5K	51763	ENSG00000132376	33882	https://pubmed.ncbi.nlm.nih.gov/?term=INPP5K	None	None	8884	388
INPPL1	inositol polyphosphate phosphatase like 1	Schneckenbecken dysplasia?0000169;Opsismodysplasia?0004098	https://raresource.nih.gov/literature/gene/INPPL1	3636	ENSG00000165458	6080	https://pubmed.ncbi.nlm.nih.gov/?term=INPPL1	None	None	5228	363
INS	insulin	MODY?0003697;Isolated permanent neonatal diabetes mellitus?0010457	https://raresource.nih.gov/literature/gene/INS	3630	ENSG00000254647	6081	https://pubmed.ncbi.nlm.nih.gov/?term=INS	None	None	197	339417
INSR	insulin receptor	Rabson-Mendenhall syndrome?0000226;Leprechaunism?0006885;Insulin-resistance syndrome type A?0003008	https://raresource.nih.gov/literature/gene/INSR	3643	ENSG00000171105	6091	https://pubmed.ncbi.nlm.nih.gov/?term=INSR	None	None	66651	7
INVS	inversin	Senior-Loken syndrome?0000322	https://raresource.nih.gov/literature/gene/INVS	27130	ENSG00000119509	17870	https://pubmed.ncbi.nlm.nih.gov/?term=INVS	None	None	72142	585
IQCB1	IQ motif containing B1	Senior-Loken syndrome?0000322;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/IQCB1	9657	ENSG00000173226	28949	https://pubmed.ncbi.nlm.nih.gov/?term=IQCB1	None	None	24256	73
IQSEC2	IQ motif and Sec7 domain ArfGEF 2	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome?0013221;Microduplication Xp11.22p11.23 syndrome?0012766;Smith-Magenis syndrome?0008197	https://raresource.nih.gov/literature/gene/IQSEC2	23096	ENSG00000124313	29059	https://pubmed.ncbi.nlm.nih.gov/?term=IQSEC2	None	None	16905	129
IRAK4	interleukin 1 receptor associated kinase 4	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency?0010311	https://raresource.nih.gov/literature/gene/IRAK4	51135	ENSG00000198001	17967	https://pubmed.ncbi.nlm.nih.gov/?term=IRAK4	None	None	None	908
IRF2BP2	interferon regulatory factor 2 binding protein 2	Common variable immunodeficiency?0006140;Acute promyelocytic leukemia?0000538	https://raresource.nih.gov/literature/gene/IRF2BP2	359948	ENSG00000168264	21729	https://pubmed.ncbi.nlm.nih.gov/?term=IRF2BP2	None	None	5230	114
IRF4	interferon regulatory factor 4	Whipple disease?0007889	https://raresource.nih.gov/literature/gene/IRF4	3662	ENSG00000137265	6119	https://pubmed.ncbi.nlm.nih.gov/?term=IRF4	None	None	9628	2338
IRF5	interferon regulatory factor 5	Diffuse cutaneous systemic sclerosis?0009751;Limited cutaneous systemic sclerosis?0001053;Primary biliary cholangitis?0007459	https://raresource.nih.gov/literature/gene/IRF5	3663	ENSG00000128604	6120	https://pubmed.ncbi.nlm.nih.gov/?term=IRF5	None	None	6176	897
IRF6	interferon regulatory factor 6	Autosomal dominant popliteal pterygium syndrome?0003242;Van der Woude syndrome?0008414	https://raresource.nih.gov/literature/gene/IRF6	3664	ENSG00000117595	6121	https://pubmed.ncbi.nlm.nih.gov/?term=IRF6	None	None	8560	1931
ISL1	ISL LIM homeobox 1	Bladder exstrophy?0006398	https://raresource.nih.gov/literature/gene/ISL1	3670	ENSG00000016082	6132	https://pubmed.ncbi.nlm.nih.gov/?term=ISL1	None	None	6841	1424
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	644
ITGA2	integrin subunit alpha 2	Fetal and neonatal alloimmune thrombocytopenia?0002295	https://raresource.nih.gov/literature/gene/ITGA2	3673	ENSG00000164171	6137	https://pubmed.ncbi.nlm.nih.gov/?term=ITGA2	None	None	38916	2925
ITGA2B	integrin subunit alpha 2b	Fetal and neonatal alloimmune thrombocytopenia?0002295;Glanzmann thrombasthenia?0002478	https://raresource.nih.gov/literature/gene/ITGA2B	3674	ENSG00000005961	6138	https://pubmed.ncbi.nlm.nih.gov/?term=ITGA2B	None	None	8459	3815
ITGA7	integrin subunit alpha 7	Congenital fiber-type disproportion myopathy?0006161	https://raresource.nih.gov/literature/gene/ITGA7	3679	ENSG00000135424	6143	https://pubmed.ncbi.nlm.nih.gov/?term=ITGA7	None	None	8138	165
ITGB2	integrin subunit beta 2	Leukocyte adhesion deficiency type I?0006893	https://raresource.nih.gov/literature/gene/ITGB2	3689	ENSG00000160255	6155	https://pubmed.ncbi.nlm.nih.gov/?term=ITGB2	None	None	19023	11283
ITGB3	integrin subunit beta 3	Fetal and neonatal alloimmune thrombocytopenia?0002295;Glanzmann thrombasthenia?0002478	https://raresource.nih.gov/literature/gene/ITGB3	3690	ENSG00000259207	6156	https://pubmed.ncbi.nlm.nih.gov/?term=ITGB3	None	None	19545	4051
ITGB4	integrin subunit beta 4	Aplasia cutis congenita?0005835	https://raresource.nih.gov/literature/gene/ITGB4	3691	ENSG00000132470	6158	https://pubmed.ncbi.nlm.nih.gov/?term=ITGB4	None	None	11164	518
ITGB6	integrin subunit beta 6	Alopecia-intellectual disability syndrome?0000612;Hypoplastic amelogenesis imperfecta?0000645	https://raresource.nih.gov/literature/gene/ITGB6	3694	ENSG00000115221	6161	https://pubmed.ncbi.nlm.nih.gov/?term=ITGB6	None	None	40586	196
ITM2B	integral membrane protein 2B	ABri amyloidosis?0008344;ADan amyloidosis?0009169	https://raresource.nih.gov/literature/gene/ITM2B	9445	ENSG00000136156	6174	https://pubmed.ncbi.nlm.nih.gov/?term=ITM2B	None	None	9811	244
ITPR1	inositol 1,4,5-trisphosphate receptor type 1	Spinocerebellar ataxia type 29?0010480;Spinocerebellar ataxia type 15/16?0010477;Aniridia-cerebellar ataxia-intellectual disability syndrome?0000013	https://raresource.nih.gov/literature/gene/ITPR1	3708	ENSG00000150995	6180	https://pubmed.ncbi.nlm.nih.gov/?term=ITPR1	None	None	146633	2713
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	181
IVD	isovaleryl-CoA dehydrogenase	Isovaleric acidemia?0000465	https://raresource.nih.gov/literature/gene/IVD	3712	ENSG00000128928	6186	https://pubmed.ncbi.nlm.nih.gov/?term=IVD	None	None	5801	256
JAG1	jagged canonical Notch ligand 1	Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/JAG1	182	ENSG00000101384	6188	https://pubmed.ncbi.nlm.nih.gov/?term=JAG1	None	None	11157	1330
JAK2	Janus kinase 2	Budd-Chiari syndrome?0005968;Essential thrombocythemia?0006594;Primary myelofibrosis?0008618;Polycythemia vera?0007422	https://raresource.nih.gov/literature/gene/JAK2	3717	ENSG00000096968	6192	https://pubmed.ncbi.nlm.nih.gov/?term=JAK2	None	None	71319	13720
JAM2	junctional adhesion molecule 2	Bilateral striopallidodentate calcinosis?0006406	https://raresource.nih.gov/literature/gene/JAM2	58494	ENSG00000154721	14686	https://pubmed.ncbi.nlm.nih.gov/?term=JAM2	None	None	24531	205
JAZF1	JAZF zinc finger 1	Endometrial stromal sarcoma?0006339	https://raresource.nih.gov/literature/gene/JAZF1	221895	ENSG00000153814	28917	https://pubmed.ncbi.nlm.nih.gov/?term=JAZF1	None	None	122008	276
JMJD1C	jumonji domain containing 1C	22q11.2 deletion syndrome?0010299	https://raresource.nih.gov/literature/gene/JMJD1C	221037	ENSG00000171988	12313	https://pubmed.ncbi.nlm.nih.gov/?term=JMJD1C	None	None	144031	130
JRK	Jrk helix-turn-helix protein	Juvenile myoclonic epilepsy?0006808	https://raresource.nih.gov/literature/gene/JRK	8629	ENSG00000234616	6199	https://pubmed.ncbi.nlm.nih.gov/?term=JRK	None	None	7369	40
JUP	junction plakoglobin	Lethal acantholytic erosive disorder?0009910;Naxos disease?0009795	https://raresource.nih.gov/literature/gene/JUP	3728	ENSG00000173801	6207	https://pubmed.ncbi.nlm.nih.gov/?term=JUP	None	None	12249	1715
KAT6B	lysine acetyltransferase 6B	Genitopatellar syndrome?0010994	https://raresource.nih.gov/literature/gene/KAT6B	23522	ENSG00000156650	17582	https://pubmed.ncbi.nlm.nih.gov/?term=KAT6B	None	None	83280	237
KATNIP	katanin interacting protein	Joubert syndrome?0006802	https://raresource.nih.gov/literature/gene/KATNIP	23247	ENSG00000047578	29068	https://pubmed.ncbi.nlm.nih.gov/?term=KATNIP	None	None	None	11
KBTBD13	kelch repeat and BTB domain containing 13	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	19
KCNA1	potassium voltage-gated channel subfamily A member 1	Early infantile epileptic encephalopathy?0009255;Hereditary continuous muscle fiber activity?0001512;Paroxysmal kinesigenic dyskinesia?0008721	https://raresource.nih.gov/literature/gene/KCNA1	3736	ENSG00000111262	6218	https://pubmed.ncbi.nlm.nih.gov/?term=KCNA1	None	None	4093	905
KCNA5	potassium voltage-gated channel subfamily A member 5	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	2468
KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	1p36 deletion syndrome?0006082	https://raresource.nih.gov/literature/gene/KCNAB2	8514	ENSG00000069424	6229	https://pubmed.ncbi.nlm.nih.gov/?term=KCNAB2	None	None	46533	52
KCNB1	potassium voltage-gated channel subfamily B member 1	Developmental and epileptic encephalopathy 26?0012391	https://raresource.nih.gov/literature/gene/KCNB1	3745	ENSG00000158445	6231	https://pubmed.ncbi.nlm.nih.gov/?term=KCNB1	None	None	47698	710
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	131
KCND3	potassium voltage-gated channel subfamily D member 3	Spinocerebellar ataxia type 19/22?0012365;Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/KCND3	3752	ENSG00000171385	6239	https://pubmed.ncbi.nlm.nih.gov/?term=KCND3	None	None	75604	611
KCNE1	potassium voltage-gated channel subfamily E regulatory subunit 1	Jervell and Lange-Nielsen syndrome?0003048;Long qt syndrome 5?0010433;Familial atrial fibrillation?0009740;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/KCNE1	3753	ENSG00000180509	6240	https://pubmed.ncbi.nlm.nih.gov/?term=KCNE1	None	None	6631	1153
KCNE2	potassium voltage-gated channel subfamily E regulatory subunit 2	Long qt syndrome 6?0010434;Familial atrial fibrillation?0009740;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/KCNE2	9992	ENSG00000159197	6242	https://pubmed.ncbi.nlm.nih.gov/?term=KCNE2	None	None	3278	338
KCNE3	potassium voltage-gated channel subfamily E regulatory subunit 3	Hypokalemic periodic paralysis?0006729;Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/KCNE3	10008	ENSG00000175538	6243	https://pubmed.ncbi.nlm.nih.gov/?term=KCNE3	None	None	3353	168
KCNE5	potassium voltage-gated channel subfamily E regulatory subunit 5	Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/KCNE5	23630	ENSG00000176076	6241	https://pubmed.ncbi.nlm.nih.gov/?term=KCNE5	None	None	1042	42
KCNH1	potassium voltage-gated channel subfamily H member 1	Zimmermann-Laband syndrome?0000385;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	475
KCNH2	potassium voltage-gated channel subfamily H member 2	Long qt syndrome 2?0003285;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/KCNH2	3757	ENSG00000055118	6251	https://pubmed.ncbi.nlm.nih.gov/?term=KCNH2	None	None	16349	4107
KCNJ10	potassium inwardly rectifying channel subfamily J member 10	Pendred syndrome?0004271;EAST syndrome?0010514	https://raresource.nih.gov/literature/gene/KCNJ10	3766	ENSG00000177807	6256	https://pubmed.ncbi.nlm.nih.gov/?term=KCNJ10	None	None	26155	700
KCNJ11	potassium inwardly rectifying channel subfamily J member 11	MODY?0003697;Transient neonatal diabetes mellitus?0001839;Isolated 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	2189
KCNJ13	potassium inwardly rectifying channel subfamily J member 13	Snowflake vitreoretinal degeneration?0009706;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/KCNJ13	3769	ENSG00000115474	6259	https://pubmed.ncbi.nlm.nih.gov/?term=KCNJ13	None	None	514	127
KCNJ18	potassium inwardly rectifying channel subfamily J member 18	Thyrotoxic periodic paralysis?0010814	https://raresource.nih.gov/literature/gene/KCNJ18	100134444	ENSG00000260458	39080	https://pubmed.ncbi.nlm.nih.gov/?term=KCNJ18	None	None	7910	29
KCNJ2	potassium inwardly rectifying channel subfamily J member 2	Familial atrial fibrillation?0009740;Andersen-Tawil syndrome?0009453	https://raresource.nih.gov/literature/gene/KCNJ2	3759	ENSG00000123700	6263	https://pubmed.ncbi.nlm.nih.gov/?term=KCNJ2	None	None	4871	1195
KCNJ5	potassium inwardly rectifying channel subfamily J member 5	Romano-Ward syndrome?0003284;Familial hyperaldosteronism type III?0012362;Andersen-Tawil syndrome?0009453	https://raresource.nih.gov/literature/gene/KCNJ5	3762	ENSG00000120457	6266	https://pubmed.ncbi.nlm.nih.gov/?term=KCNJ5	None	None	10244	715
KCNJ8	potassium inwardly rectifying channel subfamily J member 8	Cantú syndrome?0008585;Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/KCNJ8	3764	ENSG00000121361	6269	https://pubmed.ncbi.nlm.nih.gov/?term=KCNJ8	None	None	4281	535
KCNK9	potassium two pore domain channel subfamily K member 9	Intellectual disability, Birk-Barel type?0010358	https://raresource.nih.gov/literature/gene/KCNK9	51305	ENSG00000169427	6283	https://pubmed.ncbi.nlm.nih.gov/?term=KCNK9	None	None	43290	342
KCNN3	potassium calcium-activated channel subfamily N member 3	Zimmermann-Laband syndrome?0000385	https://raresource.nih.gov/literature/gene/KCNN3	3782	ENSG00000143603	6292	https://pubmed.ncbi.nlm.nih.gov/?term=KCNN3	None	None	63966	482
KCNN4	potassium calcium-activated channel subfamily N member 4	Dehydrated hereditary stomatocytosis?0005623;Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/KCNN4	3783	ENSG00000104783	6293	https://pubmed.ncbi.nlm.nih.gov/?term=KCNN4	None	None	5574	1478
KCNQ1	potassium voltage-gated channel subfamily Q member 1	Jervell and Lange-Nielsen syndrome?0003048;Familial atrial fibrillation?0009740;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/KCNQ1	3784	ENSG00000053918	6294	https://pubmed.ncbi.nlm.nih.gov/?term=KCNQ1	None	None	167109	2419
KCNQ1OT1	KCNQ1 opposite strand/antisense transcript 1	Isolated hemihyperplasia?0002630	https://raresource.nih.gov/literature/gene/KCNQ1OT1	10984	ENSG00000269821	6295	https://pubmed.ncbi.nlm.nih.gov/?term=KCNQ1OT1	None	None	None	48
KCNQ2	potassium voltage-gated channel subfamily Q member 2	Autosomal dominant non-syndromic intellectual disability?0012107;Malignant migrating focal seizures of infancy?0012919;Benign familial neonatal epilepsy?0001519;Benign familial neonatal-infantile seizures?0001518;KCNQ2-related epileptic encephalopathy?0013060;Benign familial infantile epilepsy?0000857	https://raresource.nih.gov/literature/gene/KCNQ2	3785	ENSG00000075043	6296	https://pubmed.ncbi.nlm.nih.gov/?term=KCNQ2	None	None	29591	949
KCNQ3	potassium voltage-gated channel subfamily Q member 3	Benign familial infantile epilepsy?0000857;Benign familial neonatal epilepsy?0001519;Juvenile myoclonic epilepsy?0006808	https://raresource.nih.gov/literature/gene/KCNQ3	3786	ENSG00000184156	6297	https://pubmed.ncbi.nlm.nih.gov/?term=KCNQ3	None	None	132330	99
KCNQ5	potassium voltage-gated channel subfamily Q member 5	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/KCNQ5	56479	ENSG00000185760	6299	https://pubmed.ncbi.nlm.nih.gov/?term=KCNQ5	None	None	203248	249
KCNT1	potassium sodium-activated channel subfamily T member 1	Malignant migrating focal seizures of infancy?0012919;Autosomal dominant nocturnal frontal lobe epilepsy?0011918	https://raresource.nih.gov/literature/gene/KCNT1	57582	ENSG00000107147	18865	https://pubmed.ncbi.nlm.nih.gov/?term=KCNT1	None	None	45538	265
KCNV2	potassium voltage-gated channel modifier subfamily V member 2	Cone dystrophy with supernormal rod response?0010649	https://raresource.nih.gov/literature/gene/KCNV2	169522	ENSG00000168263	19698	https://pubmed.ncbi.nlm.nih.gov/?term=KCNV2	None	None	8201	198
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	36
KCTD17	potassium channel tetramerization domain containing 17	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	26
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	59
KDF1	keratinocyte differentiation factor 1	Autosomal dominant hypohidrotic ectodermal dysplasia?0002048	https://raresource.nih.gov/literature/gene/KDF1	126695	ENSG00000175707	26624	https://pubmed.ncbi.nlm.nih.gov/?term=KDF1	None	None	5502	23
KDM5B	lysine demethylase 5B	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/KDM5B	10765	ENSG00000117139	18039	https://pubmed.ncbi.nlm.nih.gov/?term=KDM5B	None	None	35016	484
KDM6A	lysine demethylase 6A	Kabuki syndrome?0006810	https://raresource.nih.gov/literature/gene/KDM6A	7403	ENSG00000147050	12637	https://pubmed.ncbi.nlm.nih.gov/?term=KDM6A	None	None	60301	891
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	14677
KIAA0319L	KIAA0319 like	Limited cutaneous systemic sclerosis?0001053	https://raresource.nih.gov/literature/gene/KIAA0319L	79932	ENSG00000142687	30071	https://pubmed.ncbi.nlm.nih.gov/?term=KIAA0319L	None	None	45823	56
KIAA0586	KIAA0586	Joubert syndrome?0006802	https://raresource.nih.gov/literature/gene/KIAA0586	9786	ENSG00000100578	19960	https://pubmed.ncbi.nlm.nih.gov/?term=KIAA0586	None	None	31005	56
KIAA0753	KIAA0753	Orofaciodigital syndrome type 6?0004412	https://raresource.nih.gov/literature/gene/KIAA0753	9851	ENSG00000198920	29110	https://pubmed.ncbi.nlm.nih.gov/?term=KIAA0753	None	None	12762	29
KIAA1549	KIAA1549	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/KIAA1549	57670	ENSG00000122778	22219	https://pubmed.ncbi.nlm.nih.gov/?term=KIAA1549	None	None	52914	193
KIF11	kinesin family member 11	Microcephaly-lymphedema-chorioretinopathy syndrome?0003622	https://raresource.nih.gov/literature/gene/KIF11	3832	ENSG00000138160	6388	https://pubmed.ncbi.nlm.nih.gov/?term=KIF11	None	None	25144	846
KIF14	kinesin family member 14	Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/KIF14	9928	ENSG00000118193	19181	https://pubmed.ncbi.nlm.nih.gov/?term=KIF14	None	None	28126	155
KIF1A	kinesin family member 1A	Autosomal dominant non-syndromic intellectual disability?0012107;Hereditary sensory and autonomic neuropathy type 2?0003976;PEHO syndrome?0004264	https://raresource.nih.gov/literature/gene/KIF1A	547	ENSG00000130294	888	https://pubmed.ncbi.nlm.nih.gov/?term=KIF1A	None	None	48552	146
KIF1B	kinesin family member 1B	Autosomal dominant Charcot-Marie-Tooth disease type 2A1?0001248;Hereditary pheochromocytoma-paraganglioma?0011984	https://raresource.nih.gov/literature/gene/KIF1B	23095	ENSG00000054523	16636	https://pubmed.ncbi.nlm.nih.gov/?term=KIF1B	None	None	80776	283
KIF21A	kinesin family member 21A	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	111
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	493
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	357
KIF5A	kinesin family member 5A	Autosomal dominant spastic paraplegia type 10?0009590	https://raresource.nih.gov/literature/gene/KIF5A	3798	ENSG00000155980	6323	https://pubmed.ncbi.nlm.nih.gov/?term=KIF5A	None	None	10501	249
KIF7	kinesin family member 7	Hydrolethalus?0006683;Acrocallosal syndrome?0005721;Orofaciodigital syndrome type 6?0004412	https://raresource.nih.gov/literature/gene/KIF7	374654	ENSG00000166813	30497	https://pubmed.ncbi.nlm.nih.gov/?term=KIF7	None	None	10681	113
KIFBP	kinesin family binding protein	Goldberg-Shprintzen megacolon syndrome?0009849	https://raresource.nih.gov/literature/gene/KIFBP	26128	ENSG00000198954	23419	https://pubmed.ncbi.nlm.nih.gov/?term=KIFBP	None	None	12053	92
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	99
KIT	KIT proto-oncogene, receptor tyrosine kinase	Acute myeloblastic leukemia with maturation?0000527;Piebaldism?0004344;Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)?0000536;Testicular seminomatous germ cell tumor?0004792;Gastrointestinal stromal tumor?0008598;Cutaneous mastocytoma?0012687	https://raresource.nih.gov/literature/gene/KIT	3815	ENSG00000157404	6342	https://pubmed.ncbi.nlm.nih.gov/?term=KIT	None	None	38010	21407
KITLG	KIT ligand	Waardenburg syndrome type 2?0005520	https://raresource.nih.gov/literature/gene/KITLG	4254	ENSG00000049130	6343	https://pubmed.ncbi.nlm.nih.gov/?term=KITLG	None	None	19568	12394
KIZ	kizuna centrosomal protein	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/KIZ	55857	ENSG00000088970	15865	https://pubmed.ncbi.nlm.nih.gov/?term=KIZ	None	None	28954	29
KL	klotho	Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome?0010879	https://raresource.nih.gov/literature/gene/KL	9365	ENSG00000133116	6344	https://pubmed.ncbi.nlm.nih.gov/?term=KL	None	None	12714	4842
KLF11	Kruppel like factor 11	MODY?0003697	https://raresource.nih.gov/literature/gene/KLF11	8462	ENSG00000172059	11811	https://pubmed.ncbi.nlm.nih.gov/?term=KLF11	None	None	8023	202
KLHL10	kelch like family member 10	Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/KLHL10	317719	ENSG00000161594	18829	https://pubmed.ncbi.nlm.nih.gov/?term=KLHL10	None	None	3531	21
KLHL40	kelch like family member 40	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	40
KLHL41	kelch like family member 41	Childhood-onset nemaline myopathy?0007171;Typical nemaline myopathy?0012822;Severe congenital nemaline myopathy?0012821;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	69
KLHL7	kelch like family member 7	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/KLHL7	55975	ENSG00000122550	15646	https://pubmed.ncbi.nlm.nih.gov/?term=KLHL7	None	None	26473	81
KLK4	kallikrein related peptidase 4	Amelogenesis imperfecta, hypomaturation type, iia1?0009495;Hypomaturation amelogenesis imperfecta?0008349	https://raresource.nih.gov/literature/gene/KLK4	9622	ENSG00000167749	6365	https://pubmed.ncbi.nlm.nih.gov/?term=KLK4	None	None	2903	6567
KLKB1	kallikrein B1	Congenital prekallikrein deficiency?0004477	https://raresource.nih.gov/literature/gene/KLKB1	3818	ENSG00000164344	6371	https://pubmed.ncbi.nlm.nih.gov/?term=KLKB1	None	None	13476	2171
KLLN	killin, p53 regulated DNA replication inhibitor	Cowden syndrome?0006202	https://raresource.nih.gov/literature/gene/KLLN	100144748	ENSG00000227268	37212	https://pubmed.ncbi.nlm.nih.gov/?term=KLLN	None	None	2721	54
KLRC4	killer cell lectin like receptor C4	Behçet disease?0000848	https://raresource.nih.gov/literature/gene/KLRC4	8302	ENSG00000183542	6377	https://pubmed.ncbi.nlm.nih.gov/?term=KLRC4	None	None	1212	37
KMT2A	lysine methyltransferase 2A	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	4892
KMT2D	lysine methyltransferase 2D	Kabuki syndrome?0006810	https://raresource.nih.gov/literature/gene/KMT2D	8085	ENSG00000167548	7133	https://pubmed.ncbi.nlm.nih.gov/?term=KMT2D	None	None	16488	1655
KNG1	kininogen 1	Congenital high-molecular-weight kininogen deficiency?0002684	https://raresource.nih.gov/literature/gene/KNG1	3827	ENSG00000113889	6383	https://pubmed.ncbi.nlm.nih.gov/?term=KNG1	None	None	13863	11891
KNL1	kinetochore scaffold 1	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	223
KRAS	KRAS proto-oncogene, GTPase	Juvenile myelomonocytic leukemia?0009884;Lynch syndrome?0009905;Linear nevus sebaceus syndrome?0010291;Encephalocraniocutaneous lipomatosis?0002108;Cardiofaciocutaneous syndrome?0009146;Noonan syndrome?0010955;Toriello-Lacassie-Droste syndrome?0010366;Differentiated thyroid carcinoma?0012027;Familial pancreatic carcinoma?0004206	https://raresource.nih.gov/literature/gene/KRAS	3845	ENSG00000133703	6407	https://pubmed.ncbi.nlm.nih.gov/?term=KRAS	None	None	16677	28352
KRIT1	KRIT1 ankyrin repeat containing	Familial cerebral cavernous malformation?0013641	https://raresource.nih.gov/literature/gene/KRIT1	889	ENSG00000001631	1573	https://pubmed.ncbi.nlm.nih.gov/?term=KRIT1	None	None	17636	5225
KRT1	keratin 1	Autosomal dominant epidermolytic ichthyosis?0001039;KRT1-related diffuse nonepidermolytic keratoderma?0005186;Epidermolytic palmoplantar keratoderma?0002826;Keratosis palmoplantaris striata iii?0009173;Ichthyosis hystrix of Curth-Macklin?0002954	https://raresource.nih.gov/literature/gene/KRT1	3848	ENSG00000167768	6412	https://pubmed.ncbi.nlm.nih.gov/?term=KRT1	None	None	2914	2580
KRT10	keratin 10	Autosomal dominant epidermolytic ichthyosis?0001039	https://raresource.nih.gov/literature/gene/KRT10	3858	ENSG00000186395	6413	https://pubmed.ncbi.nlm.nih.gov/?term=KRT10	None	None	2980	1472
KRT12	keratin 12	Meesmann corneal dystrophy?0009688	https://raresource.nih.gov/literature/gene/KRT12	3859	ENSG00000187242	6414	https://pubmed.ncbi.nlm.nih.gov/?term=KRT12	None	None	2564	345
KRT13	keratin 13	White sponge nevus?0008501	https://raresource.nih.gov/literature/gene/KRT13	3860	ENSG00000171401	6415	https://pubmed.ncbi.nlm.nih.gov/?term=KRT13	None	None	2784	851
KRT14	keratin 14	Localized epidermolysis bullosa simplex?0002146;Dermatopathia pigmentosa reticularis?0008550;Naegeli-Franceschetti-Jadassohn syndrome?0003912;Autosomal dominant generalized epidermolysis bullosa simplex, severe form?0002141;Epidermolysis bullosa simplex with mottled pigmentation?0009737;Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form?0002147	https://raresource.nih.gov/literature/gene/KRT14	3861	ENSG00000186847	6416	https://pubmed.ncbi.nlm.nih.gov/?term=KRT14	None	None	2923	2831
KRT16	keratin 16	Epidermolytic palmoplantar keratoderma?0002826;Pachyonychia congenita?0010753	https://raresource.nih.gov/literature/gene/KRT16	3868	ENSG00000186832	6423	https://pubmed.ncbi.nlm.nih.gov/?term=KRT16	None	None	2317	206
KRT17	keratin 17	Pachyonychia congenita?0010753;Sebocystomatosis?0005003	https://raresource.nih.gov/literature/gene/KRT17	3872	ENSG00000128422	6427	https://pubmed.ncbi.nlm.nih.gov/?term=KRT17	None	None	2847	4210
KRT2	keratin 2	Superficial epidermolytic ichthyosis?0002966	https://raresource.nih.gov/literature/gene/KRT2	3849	ENSG00000172867	6439	https://pubmed.ncbi.nlm.nih.gov/?term=KRT2	None	None	3473	113
KRT25	keratin 25	Woolly hair?0005597	https://raresource.nih.gov/literature/gene/KRT25	147183	ENSG00000204897	30839	https://pubmed.ncbi.nlm.nih.gov/?term=KRT25	None	None	3312	37
KRT3	keratin 3	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	556
KRT4	keratin 4	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	30
KRT5	keratin 5	Localized epidermolysis bullosa simplex?0002146;Dowling-Degos disease?0009775;Autosomal dominant generalized epidermolysis bullosa simplex, severe form?0002141;Epidermolysis bullosa simplex with mottled pigmentation?0009737;Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form?0002147	https://raresource.nih.gov/literature/gene/KRT5	3852	ENSG00000186081	6442	https://pubmed.ncbi.nlm.nih.gov/?term=KRT5	None	None	3349	1915
KRT6A	keratin 6A	Pachyonychia congenita?0010753	https://raresource.nih.gov/literature/gene/KRT6A	3853	ENSG00000205420	6443	https://pubmed.ncbi.nlm.nih.gov/?term=KRT6A	None	None	3363	498
KRT6B	keratin 6B	Pachyonychia congenita?0010753	https://raresource.nih.gov/literature/gene/KRT6B	3854	ENSG00000185479	6444	https://pubmed.ncbi.nlm.nih.gov/?term=KRT6B	None	None	3211	1320
KRT71	keratin 71	Woolly hair?0005597	https://raresource.nih.gov/literature/gene/KRT71	112802	ENSG00000139648	28927	https://pubmed.ncbi.nlm.nih.gov/?term=KRT71	None	None	3670	45
KRT74	keratin 74	Woolly hair?0005597	https://raresource.nih.gov/literature/gene/KRT74	121391	ENSG00000170484	28929	https://pubmed.ncbi.nlm.nih.gov/?term=KRT74	None	None	3493	16
KRT81	keratin 81	Monilethrix?0000093	https://raresource.nih.gov/literature/gene/KRT81	3887	ENSG00000205426	6458	https://pubmed.ncbi.nlm.nih.gov/?term=KRT81	None	None	1709	190
KRT83	keratin 83	Monilethrix?0000093	https://raresource.nih.gov/literature/gene/KRT83	3889	ENSG00000170523	6460	https://pubmed.ncbi.nlm.nih.gov/?term=KRT83	None	None	4053	18
KRT86	keratin 86	Monilethrix?0000093	https://raresource.nih.gov/literature/gene/KRT86	3892	ENSG00000170442	6463	https://pubmed.ncbi.nlm.nih.gov/?term=KRT86	None	None	None	139
KRT9	keratin 9	Epidermolytic palmoplantar keratoderma?0002826	https://raresource.nih.gov/literature/gene/KRT9	3857	ENSG00000171403	6447	https://pubmed.ncbi.nlm.nih.gov/?term=KRT9	None	None	3079	210
KYNU	kynureninase	Hydroxykynureninuria?0010039	https://raresource.nih.gov/literature/gene/KYNU	8942	ENSG00000115919	6469	https://pubmed.ncbi.nlm.nih.gov/?term=KYNU	None	None	68497	350
L1CAM	L1 cell adhesion molecule	Hydrocephalus with stenosis of the aqueduct of Sylvius?0000434;MASA syndrome?0006986	https://raresource.nih.gov/literature/gene/L1CAM	3897	ENSG00000198910	6470	https://pubmed.ncbi.nlm.nih.gov/?term=L1CAM	None	None	6732	1508
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	92
LACC1	laccase domain containing 1	Systemic-onset juvenile idiopathic arthritis?0010966	https://raresource.nih.gov/literature/gene/LACC1	144811	ENSG00000179630	26789	https://pubmed.ncbi.nlm.nih.gov/?term=LACC1	None	None	5034	68
LAGE3	L antigen family member 3	Galloway-Mowat syndrome?0000065	https://raresource.nih.gov/literature/gene/LAGE3	8270	ENSG00000196976	26058	https://pubmed.ncbi.nlm.nih.gov/?term=LAGE3	None	None	770	68
LAMA2	laminin subunit alpha 2	Laminin subunit alpha 2-related 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	472
LAMA4	laminin subunit alpha 4	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/LAMA4	3910	ENSG00000112769	6484	https://pubmed.ncbi.nlm.nih.gov/?term=LAMA4	None	None	54486	358
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	202
LAMB3	laminin subunit beta 3	Hypoplastic amelogenesis imperfecta?0000645	https://raresource.nih.gov/literature/gene/LAMB3	3914	ENSG00000196878	6490	https://pubmed.ncbi.nlm.nih.gov/?term=LAMB3	None	None	15775	314
LAMP2	lysosomal associated membrane protein 2	Glycogen storage disease due to LAMP-2 deficiency?0009730	https://raresource.nih.gov/literature/gene/LAMP2	3920	ENSG00000005893	6501	https://pubmed.ncbi.nlm.nih.gov/?term=LAMP2	None	None	8065	1446
LARGE1	LARGE xylosyl- and glucuronyltransferase 1	Muscle-eye-brain disease?0000156;Walker-Warburg syndrome?0002599	https://raresource.nih.gov/literature/gene/LARGE1	9215	ENSG00000133424	6511	https://pubmed.ncbi.nlm.nih.gov/?term=LARGE1	None	None	180169	433
LARS1	leucyl-tRNA synthetase 1	Acute infantile liver failure-multisystemic involvement syndrome?0013114	https://raresource.nih.gov/literature/gene/LARS1	51520	ENSG00000133706	6512	https://pubmed.ncbi.nlm.nih.gov/?term=LARS1	None	None	30561	370
LARS2	leucyl-tRNA synthetase 2, mitochondrial	Perrault syndrome?0002542	https://raresource.nih.gov/literature/gene/LARS2	23395	ENSG00000011376	17095	https://pubmed.ncbi.nlm.nih.gov/?term=LARS2	None	None	60459	243
LAS1L	LAS1 like ribosome biogenesis factor	Wilson-Turner syndrome?0005579	https://raresource.nih.gov/literature/gene/LAS1L	81887	ENSG00000001497	25726	https://pubmed.ncbi.nlm.nih.gov/?term=LAS1L	None	None	4966	145
LBR	lamin B receptor	Reynolds syndrome?0004697;Greenberg dysplasia?0008754	https://raresource.nih.gov/literature/gene/LBR	3930	ENSG00000143815	6518	https://pubmed.ncbi.nlm.nih.gov/?term=LBR	None	None	10982	3568
LCA5	lebercilin LCA5	Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/LCA5	167691	ENSG00000135338	31923	https://pubmed.ncbi.nlm.nih.gov/?term=LCA5	None	None	20839	51
LCAT	lecithin-cholesterol acyltransferase	Fish-eye disease?0006450;Familial LCAT deficiency?0004011	https://raresource.nih.gov/literature/gene/LCAT	3931	ENSG00000213398	6522	https://pubmed.ncbi.nlm.nih.gov/?term=LCAT	None	None	1864	3625
LDB3	LIM domain binding 3	Familial isolated dilated cardiomyopathy?0002905;Late-onset distal myopathy, Markesbery-Griggs type?0001886;Left ventricular noncompaction?0010985	https://raresource.nih.gov/literature/gene/LDB3	11155	ENSG00000122367	15710	https://pubmed.ncbi.nlm.nih.gov/?term=LDB3	None	None	26859	195
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	2570
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	712
LDLR	low density lipoprotein receptor	Homozygous familial hypercholesterolemia?0010416	https://raresource.nih.gov/literature/gene/LDLR	3949	ENSG00000130164	6547	https://pubmed.ncbi.nlm.nih.gov/?term=LDLR	None	None	18072	12921
LDLRAP1	low density lipoprotein receptor adaptor protein 1	Homozygous familial hypercholesterolemia?0010416	https://raresource.nih.gov/literature/gene/LDLRAP1	26119	ENSG00000157978	18640	https://pubmed.ncbi.nlm.nih.gov/?term=LDLRAP1	None	None	10916	299
LEMD2	LEM domain nuclear envelope protein 2	Total early-onset cataract?0001159	https://raresource.nih.gov/literature/gene/LEMD2	221496	ENSG00000161904	21244	https://pubmed.ncbi.nlm.nih.gov/?term=LEMD2	None	None	8338	74
LEMD3	LEM domain containing 3	12q14 microdeletion syndrome?0013390;Melorheostosis with osteopoikilosis?0003690;Buschke-Ollendorff syndrome?0001044	https://raresource.nih.gov/literature/gene/LEMD3	23592	ENSG00000174106	28887	https://pubmed.ncbi.nlm.nih.gov/?term=LEMD3	None	None	19625	179
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	38981
LETM1	leucine zipper and EF-hand containing transmembrane protein 1	Wolf-Hirschhorn syndrome?0007896	https://raresource.nih.gov/literature/gene/LETM1	3954	ENSG00000168924	6556	https://pubmed.ncbi.nlm.nih.gov/?term=LETM1	None	None	20913	154
LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	Autosomal recessive spondylocostal dysostosis?0006798	https://raresource.nih.gov/literature/gene/LFNG	3955	ENSG00000106003	6560	https://pubmed.ncbi.nlm.nih.gov/?term=LFNG	None	None	9317	186
LGI1	leucine rich glioma inactivated 1	Autosomal dominant epilepsy with auditory features?0002257	https://raresource.nih.gov/literature/gene/LGI1	9211	ENSG00000108231	6572	https://pubmed.ncbi.nlm.nih.gov/?term=LGI1	None	None	18549	954
LHB	luteinizing hormone subunit beta	Leydig cell hypoplasia due to LHB deficiency?0010127	https://raresource.nih.gov/literature/gene/LHB	3972	ENSG00000104826	6584	https://pubmed.ncbi.nlm.nih.gov/?term=LHB	None	None	614	474
LHCGR	luteinizing hormone/choriogonadotropin receptor	Familial male-limited precocious puberty?0004475	https://raresource.nih.gov/literature/gene/LHCGR	3973	ENSG00000138039	6585	https://pubmed.ncbi.nlm.nih.gov/?term=LHCGR	None	None	1391	1860
LHX1	LIM homeobox 1	17q12 microdeletion syndrome?0013297	https://raresource.nih.gov/literature/gene/LHX1	3975	ENSG00000273706	6593	https://pubmed.ncbi.nlm.nih.gov/?term=LHX1	None	None	4012	414
LHX3	LIM homeobox 3	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome?0010603	https://raresource.nih.gov/literature/gene/LHX3	8022	ENSG00000107187	6595	https://pubmed.ncbi.nlm.nih.gov/?term=LHX3	None	None	5479	349
LHX4	LIM homeobox 4	Short stature-pituitary and cerebellar defects-small sella turcica syndrome?0010604;Combined pituitary hormone deficiencies, genetic forms?0010602;Pituitary stalk interruption syndrome?0013209	https://raresource.nih.gov/literature/gene/LHX4	89884	ENSG00000121454	21734	https://pubmed.ncbi.nlm.nih.gov/?term=LHX4	None	None	18511	158
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	871
LIFR	LIF receptor subunit alpha	Stüve-Wiedemann syndrome?0005045	https://raresource.nih.gov/literature/gene/LIFR	3977	ENSG00000113594	6597	https://pubmed.ncbi.nlm.nih.gov/?term=LIFR	None	None	53180	817
LIG3	DNA ligase 3	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	175
LIG4	DNA ligase 4	Dubowitz syndrome?0006290;Omenn syndrome?0008198	https://raresource.nih.gov/literature/gene/LIG4	3981	ENSG00000174405	6601	https://pubmed.ncbi.nlm.nih.gov/?term=LIG4	None	None	6220	23
LIM2	lens intrinsic membrane protein 2	Total early-onset cataract?0001159	https://raresource.nih.gov/literature/gene/LIM2	3982	ENSG00000105370	6610	https://pubmed.ncbi.nlm.nih.gov/?term=LIM2	None	None	3185	162
LIMK1	LIM domain kinase 1	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/LIMK1	3984	ENSG00000106683	6613	https://pubmed.ncbi.nlm.nih.gov/?term=LIMK1	None	None	17424	857
LIN28B	lin-28 homolog B	Neuroblastoma?0007185	https://raresource.nih.gov/literature/gene/LIN28B	389421	ENSG00000187772	32207	https://pubmed.ncbi.nlm.nih.gov/?term=LIN28B	None	None	54030	543
LIPA	lipase A, lysosomal acid type	Cholesteryl ester storage disease?0012099;Wolman disease?0007899	https://raresource.nih.gov/literature/gene/LIPA	3988	ENSG00000107798	6617	https://pubmed.ncbi.nlm.nih.gov/?term=LIPA	None	None	52937	1239
LIPC	lipase C, hepatic type	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency?0012864	https://raresource.nih.gov/literature/gene/LIPC	3990	ENSG00000166035	6619	https://pubmed.ncbi.nlm.nih.gov/?term=LIPC	None	None	47487	3598
LIPH	lipase H	Hypotrichosis simplex?0009170;Woolly hair?0005597;Hypotrichosis 7?0008178	https://raresource.nih.gov/literature/gene/LIPH	200879	ENSG00000163898	18483	https://pubmed.ncbi.nlm.nih.gov/?term=LIPH	None	None	20833	588
LIPN	lipase family member N	Lamellar ichthyosis?0010803	https://raresource.nih.gov/literature/gene/LIPN	643418	ENSG00000204020	23452	https://pubmed.ncbi.nlm.nih.gov/?term=LIPN	None	None	7598	20
LMBR1	limb development membrane protein 1	Acheiropodia?0000376;Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome?0008309;Laurin-Sandrow syndrome?0000155;Radial hemimelia?0000225;Syndactyly type 4?0004434;Polydactyly of a triphalangeal thumb?0005289	https://raresource.nih.gov/literature/gene/LMBR1	64327	ENSG00000105983	13243	https://pubmed.ncbi.nlm.nih.gov/?term=LMBR1	None	None	78302	303
LMF1	lipase maturation factor 1	Familial lipase maturation factor 1 deficiency?0010244	https://raresource.nih.gov/literature/gene/LMF1	64788	ENSG00000103227	14154	https://pubmed.ncbi.nlm.nih.gov/?term=LMF1	None	None	51071	129
LMNA	lamin A/C	Familial isolated dilated cardiomyopathy?0002905;Cardiomyopathy, dilated, 1a?0001104;Restrictive dermopathy?0001516;Hutchinson-Gilford progeria syndrome?0007467;Heart-hand syndrome, Slovenian type?0009846;Left ventricular noncompaction?0010985;Familial partial lipodystrophy, Dunnigan type?0003126;Mandibuloacral dysplasia with type A lipodystrophy?0003374;Familial partial lipodystrophy, Köbberling type?0012598;Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome?0003373;Emery-dreifuss muscular dystrophy 2, autosomal dominant?0010230;Atypical Werner syndrome?0011910	https://raresource.nih.gov/literature/gene/LMNA	4000	ENSG00000160789	6636	https://pubmed.ncbi.nlm.nih.gov/?term=LMNA	None	None	22774	3523
LMNB1	lamin B1	Autosomal dominant primary microcephaly?0003605;Adult-onset autosomal dominant leukodystrophy?0010587	https://raresource.nih.gov/literature/gene/LMNB1	4001	ENSG00000113368	6637	https://pubmed.ncbi.nlm.nih.gov/?term=LMNB1	None	None	28959	707
LMNB2	lamin B2	Acquired partial lipodystrophy?0010509	https://raresource.nih.gov/literature/gene/LMNB2	84823	ENSG00000176619	6638	https://pubmed.ncbi.nlm.nih.gov/?term=LMNB2	None	None	10430	382
LMO1	LIM domain only 1	Neuroblastoma?0007185	https://raresource.nih.gov/literature/gene/LMO1	4004	ENSG00000166407	6641	https://pubmed.ncbi.nlm.nih.gov/?term=LMO1	None	None	17931	297
LMOD1	leiomodin 1	Megacystis-microcolon-intestinal hypoperistalsis syndrome?0003442	https://raresource.nih.gov/literature/gene/LMOD1	25802	ENSG00000163431	6647	https://pubmed.ncbi.nlm.nih.gov/?term=LMOD1	None	None	21353	2569
LMOD3	leiomodin 3	Typical nemaline myopathy?0012822;Severe congenital nemaline myopathy?0012821	https://raresource.nih.gov/literature/gene/LMOD3	56203	ENSG00000163380	6649	https://pubmed.ncbi.nlm.nih.gov/?term=LMOD3	None	None	9093	41
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	1373
LONP1	lon peptidase 1, mitochondrial	Pyruvate dehydrogenase E1-alpha deficiency?0004620;Congenital diaphragmatic hernia?0001481;CODAS syndrome?0001418	https://raresource.nih.gov/literature/gene/LONP1	9361	ENSG00000196365	9479	https://pubmed.ncbi.nlm.nih.gov/?term=LONP1	None	None	13052	1598
LOX	lysyl oxidase	Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/LOX	4015	ENSG00000113083	6664	https://pubmed.ncbi.nlm.nih.gov/?term=LOX	None	None	6928	8896
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	125
LPAR6	lysophosphatidic acid receptor 6	Hypotrichosis simplex?0009170;Woolly hair?0005597	https://raresource.nih.gov/literature/gene/LPAR6	10161	ENSG00000139679	15520	https://pubmed.ncbi.nlm.nih.gov/?term=LPAR6	None	None	692	154
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	116
LPL	lipoprotein lipase	Familial lipoprotein lipase deficiency?0012241	https://raresource.nih.gov/literature/gene/LPL	4023	ENSG00000175445	6677	https://pubmed.ncbi.nlm.nih.gov/?term=LPL	None	None	13231	11061
LRAT	lecithin retinol acyltransferase	Retinitis pigmentosa?0005694;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/LRAT	9227	ENSG00000121207	6685	https://pubmed.ncbi.nlm.nih.gov/?term=LRAT	None	None	44389	372
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	588
LRIG2	leucine rich repeats and immunoglobulin like domains 2	Ochoa syndrome?0000104	https://raresource.nih.gov/literature/gene/LRIG2	9860	ENSG00000198799	20889	https://pubmed.ncbi.nlm.nih.gov/?term=LRIG2	None	None	25161	75
LRIT3	leucine rich repeat, Ig-like and transmembrane domains 3	Congenital stationary night blindness?0003995	https://raresource.nih.gov/literature/gene/LRIT3	345193	ENSG00000183423	24783	https://pubmed.ncbi.nlm.nih.gov/?term=LRIT3	None	None	10241	20
LRP1	LDL receptor related protein 1	Atrophoderma vermiculata?0009744;Keratosis follicularis spinulosa decalvans?0006829	https://raresource.nih.gov/literature/gene/LRP1	4035	ENSG00000123384	6692	https://pubmed.ncbi.nlm.nih.gov/?term=LRP1	None	None	25270	4281
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	1436
LRP4	LDL receptor related protein 4	Cenani-Lenz syndrome?0005084;Sclerosteosis?0004771	https://raresource.nih.gov/literature/gene/LRP4	4038	ENSG00000134569	6696	https://pubmed.ncbi.nlm.nih.gov/?term=LRP4	None	None	24736	500
LRP5	LDL receptor related protein 5	Retinopathy of prematurity?0005695;Autosomal dominant osteopetrosis type 1?0004151;Familial exudative vitreoretinopathy?0001613;Hyperostosis corticalis generalisata?0002833;Isolated polycystic liver disease?0009457;Endosteal hyperostosis, Worth type?0000390;Osteoporosis-pseudoglioma syndrome?0004160	https://raresource.nih.gov/literature/gene/LRP5	4041	ENSG00000162337	6697	https://pubmed.ncbi.nlm.nih.gov/?term=LRP5	None	None	56635	1669
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	2915
LRRC56	leucine rich repeat containing 56	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	6
LRRC8A	leucine rich repeat containing 8 VRAC subunit A	Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/LRRC8A	56262	ENSG00000136802	19027	https://pubmed.ncbi.nlm.nih.gov/?term=LRRC8A	None	None	14078	214
LRSAM1	leucine rich repeat and sterile alpha motif containing 1	Charcot-Marie-Tooth disease type 2P?0012435	https://raresource.nih.gov/literature/gene/LRSAM1	90678	ENSG00000148356	25135	https://pubmed.ncbi.nlm.nih.gov/?term=LRSAM1	None	None	20786	429
LSS	lanosterol synthase	Hypotrichosis simplex?0009170;Alopecia-intellectual disability syndrome?0000612;Total early-onset cataract?0001159	https://raresource.nih.gov/literature/gene/LSS	4047	ENSG00000160285	6708	https://pubmed.ncbi.nlm.nih.gov/?term=LSS	None	None	13744	25
LTBP1	latent transforming growth factor beta binding protein 1	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	286
LTBP2	latent transforming growth factor beta binding protein 2	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea?0010942;Congenital glaucoma?0002485;Weill-Marchesani syndrome?0004936	https://raresource.nih.gov/literature/gene/LTBP2	4053	ENSG00000119681	6715	https://pubmed.ncbi.nlm.nih.gov/?term=LTBP2	None	None	29832	306
LTBP3	latent transforming growth factor beta binding protein 3	Brachyolmia-amelogenesis imperfecta syndrome?0005478;Geleophysic dysplasia?0002449;Acromicric dysplasia?0000007	https://raresource.nih.gov/literature/gene/LTBP3	4054	ENSG00000168056	6716	https://pubmed.ncbi.nlm.nih.gov/?term=LTBP3	None	None	9707	297
LTBP4	latent transforming growth factor beta binding protein 4	Duchenne muscular dystrophy?0006291	https://raresource.nih.gov/literature/gene/LTBP4	8425	ENSG00000090006	6717	https://pubmed.ncbi.nlm.nih.gov/?term=LTBP4	None	None	12665	156
LUZP1	leucine zipper protein 1	1p36 deletion syndrome?0006082	https://raresource.nih.gov/literature/gene/LUZP1	7798	ENSG00000169641	14985	https://pubmed.ncbi.nlm.nih.gov/?term=LUZP1	None	None	35890	27
LYRM7	LYR motif containing 7	Isolated complex III deficiency?0008295	https://raresource.nih.gov/literature/gene/LYRM7	90624	ENSG00000186687	28072	https://pubmed.ncbi.nlm.nih.gov/?term=LYRM7	None	None	15892	22
LYST	lysosomal trafficking regulator	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	1569
LZTFL1	leucine zipper transcription factor like 1	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	81
LZTR1	leucine zipper like transcription regulator 1	Gliosarcoma?0005653;Schwannomatosis?0004768;Noonan syndrome?0010955	https://raresource.nih.gov/literature/gene/LZTR1	8216	ENSG00000099949	6742	https://pubmed.ncbi.nlm.nih.gov/?term=LZTR1	None	None	6573	885
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	196
MAD2L2	mitotic arrest deficient 2 like 2	Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/MAD2L2	10459	ENSG00000116670	6764	https://pubmed.ncbi.nlm.nih.gov/?term=MAD2L2	None	None	6760	252
MAF	MAF bZIP transcription factor	Cerulean cataract?0009508;Cataract-microcornea syndrome?0001155;Aymé-Gripp syndrome?0000958	https://raresource.nih.gov/literature/gene/MAF	4094	ENSG00000178573	6776	https://pubmed.ncbi.nlm.nih.gov/?term=MAF	None	None	8879	1951
MAFB	MAF bZIP transcription factor B	Duane retraction syndrome?0006288	https://raresource.nih.gov/literature/gene/MAFB	9935	ENSG00000204103	6408	https://pubmed.ncbi.nlm.nih.gov/?term=MAFB	None	None	2708	633
MAGEL2	MAGE family member L2	MAGEL2-related Prader-Willi-like syndrome?0013316	https://raresource.nih.gov/literature/gene/MAGEL2	54551	ENSG00000254585	6814	https://pubmed.ncbi.nlm.nih.gov/?term=MAGEL2	None	None	3541	177
MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	Genetic 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	500
MAGT1	magnesium transporter 1	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	2999
MAK	male germ cell associated kinase	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/MAK	4117	ENSG00000111837	6816	https://pubmed.ncbi.nlm.nih.gov/?term=MAK	None	None	32052	255
MALT1	MALT1 paracaspase	MALT lymphoma?0006485	https://raresource.nih.gov/literature/gene/MALT1	10892	ENSG00000172175	6819	https://pubmed.ncbi.nlm.nih.gov/?term=MALT1	None	None	25121	1166
MAN1B1	mannosidase alpha class 1B member 1	MAN1B1-CDG?0012417	https://raresource.nih.gov/literature/gene/MAN1B1	11253	ENSG00000177239	6823	https://pubmed.ncbi.nlm.nih.gov/?term=MAN1B1	None	None	13446	68
MANBA	mannosidase beta	Beta-mannosidosis?0000869	https://raresource.nih.gov/literature/gene/MANBA	4126	ENSG00000109323	6831	https://pubmed.ncbi.nlm.nih.gov/?term=MANBA	None	None	47608	819
MAOA	monoamine oxidase A	Monoamine oxidase A deficiency?0003531	https://raresource.nih.gov/literature/gene/MAOA	4128	ENSG00000189221	6833	https://pubmed.ncbi.nlm.nih.gov/?term=MAOA	None	None	16041	4693
MAP1B	microtubule associated protein 1B	Periventricular nodular heterotopia?0012724	https://raresource.nih.gov/literature/gene/MAP1B	4131	ENSG00000131711	6836	https://pubmed.ncbi.nlm.nih.gov/?term=MAP1B	None	None	36913	671
MAP2K1	mitogen-activated protein kinase kinase 1	Cardiofaciocutaneous syndrome?0009146;Langerhans cell histiocytosis?0006858	https://raresource.nih.gov/literature/gene/MAP2K1	5604	ENSG00000169032	6840	https://pubmed.ncbi.nlm.nih.gov/?term=MAP2K1	None	None	40161	4430
MAP2K2	mitogen-activated protein kinase kinase 2	Cardiofaciocutaneous syndrome?0009146;Neurofibromatosis-Noonan syndrome?0000372	https://raresource.nih.gov/literature/gene/MAP2K2	5605	ENSG00000126934	6842	https://pubmed.ncbi.nlm.nih.gov/?term=MAP2K2	None	None	16219	778
MAP3K1	mitogen-activated protein kinase kinase kinase 1	46,XY complete gonadal dysgenesis?0005068	https://raresource.nih.gov/literature/gene/MAP3K1	4214	ENSG00000095015	6848	https://pubmed.ncbi.nlm.nih.gov/?term=MAP3K1	None	None	34105	1211
MAP3K20	mitogen-activated protein kinase kinase kinase 20	Congenital fiber-type disproportion myopathy?0006161	https://raresource.nih.gov/literature/gene/MAP3K20	51776	ENSG00000091436	17797	https://pubmed.ncbi.nlm.nih.gov/?term=MAP3K20	None	None	71954	2968
MAP3K6	mitogen-activated protein kinase kinase kinase 6	Hereditary diffuse gastric cancer?0010900	https://raresource.nih.gov/literature/gene/MAP3K6	9064	ENSG00000142733	6858	https://pubmed.ncbi.nlm.nih.gov/?term=MAP3K6	None	None	6752	71
MAP3K7	mitogen-activated protein kinase kinase kinase 7	Cardiospondylocarpofacial syndrome?0002362;Frontometaphyseal dysplasia?0000826	https://raresource.nih.gov/literature/gene/MAP3K7	6885	ENSG00000135341	6859	https://pubmed.ncbi.nlm.nih.gov/?term=MAP3K7	None	None	30020	280
MAPK10	mitogen-activated protein kinase 10	Lennox-Gastaut syndrome?0009912	https://raresource.nih.gov/literature/gene/MAPK10	5602	ENSG00000109339	6872	https://pubmed.ncbi.nlm.nih.gov/?term=MAPK10	None	None	203061	653
MAPRE2	microtubule associated protein RP/EB family member 2	Multiple benign circumferential skin creases on limbs?0003589	https://raresource.nih.gov/literature/gene/MAPRE2	10982	ENSG00000166974	6891	https://pubmed.ncbi.nlm.nih.gov/?term=MAPRE2	None	None	38589	1007
MAPT	microtubule associated protein tau	Behavioral variant of frontotemporal dementia?0007392;Progressive non-fluent aphasia?0010793;Semantic dementia?0010792	https://raresource.nih.gov/literature/gene/MAPT	4137	ENSG00000186868	6893	https://pubmed.ncbi.nlm.nih.gov/?term=MAPT	None	None	36787	24473
MASP1	MBL associated serine protease 1	3MC syndrome?0001118	https://raresource.nih.gov/literature/gene/MASP1	5648	ENSG00000127241	6901	https://pubmed.ncbi.nlm.nih.gov/?term=MASP1	None	None	28374	875
MAT1A	methionine adenosyltransferase 1A	Brain demyelination due to 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	1144
MAT2A	methionine adenosyltransferase 2A	Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/MAT2A	4144	ENSG00000168906	6904	https://pubmed.ncbi.nlm.nih.gov/?term=MAT2A	None	None	3546	379
MATN3	matrilin 3	Spondyloepimetaphyseal dysplasia, matrilin-3 type?0010611;Multiple epiphyseal dysplasia type 5?0009794	https://raresource.nih.gov/literature/gene/MATN3	4148	ENSG00000132031	6909	https://pubmed.ncbi.nlm.nih.gov/?term=MATN3	None	None	8543	65
MATR3	matrin 3	Amyotrophic lateral sclerosis?0005786;Vocal cord and pharyngeal distal myopathy?0001887	https://raresource.nih.gov/literature/gene/MATR3	9782	ENSG00000015479	6912	https://pubmed.ncbi.nlm.nih.gov/?term=MATR3	None	None	26622	194
MAX	MYC associated factor X	Hereditary pheochromocytoma-paraganglioma?0011984	https://raresource.nih.gov/literature/gene/MAX	4149	ENSG00000125952	6913	https://pubmed.ncbi.nlm.nih.gov/?term=MAX	None	None	13951	2211
MBD5	methyl-CpG binding domain protein 5	Autosomal dominant non-syndromic intellectual disability?0012107;2q23.1 microdeletion syndrome?0010998	https://raresource.nih.gov/literature/gene/MBD5	55777	ENSG00000204406	20444	https://pubmed.ncbi.nlm.nih.gov/?term=MBD5	None	None	180672	126
MBTPS2	membrane bound transcription factor peptidase, site 2	Ichthyosis follicularis-alopecia-photophobia syndrome?0002952;Keratosis follicularis spinulosa decalvans?0006829;Mutilating palmoplantar keratoderma with periorificial keratotic plaques?0004075;Osteogenesis imperfecta type 1?0008694	https://raresource.nih.gov/literature/gene/MBTPS2	51360	ENSG00000012174	15455	https://pubmed.ncbi.nlm.nih.gov/?term=MBTPS2	None	None	8836	213
MC1R	melanocortin 1 receptor	Oculocutaneous albinism type 2?0004038;Familial melanoma?0003460;Large congenital melanocytic nevus?0002469	https://raresource.nih.gov/literature/gene/MC1R	4157	ENSG00000258839	6929	https://pubmed.ncbi.nlm.nih.gov/?term=MC1R	None	None	8677	1983
MC2R	melanocortin 2 receptor	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	771
MCCC1	methylcrotonyl-CoA carboxylase subunit 1	3-methylcrotonyl-CoA carboxylase deficiency?0010954	https://raresource.nih.gov/literature/gene/MCCC1	56922	ENSG00000078070	6936	https://pubmed.ncbi.nlm.nih.gov/?term=MCCC1	None	None	38277	110
MCCC2	methylcrotonyl-CoA carboxylase subunit 2	3-methylcrotonyl-CoA carboxylase deficiency?0010954	https://raresource.nih.gov/literature/gene/MCCC2	64087	ENSG00000131844	6937	https://pubmed.ncbi.nlm.nih.gov/?term=MCCC2	None	None	28948	262
MCIDAS	multiciliate differentiation and DNA synthesis associated cell cycle protein	Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/MCIDAS	345643	ENSG00000234602	40050	https://pubmed.ncbi.nlm.nih.gov/?term=MCIDAS	None	None	4157	83
MCOLN1	mucolipin TRP cation channel 1	Mucolipidosis type IV?0000094	https://raresource.nih.gov/literature/gene/MCOLN1	57192	ENSG00000090674	13356	https://pubmed.ncbi.nlm.nih.gov/?term=MCOLN1	None	None	4016	528
MCPH1	microcephalin 1	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	816
MDH2	malate dehydrogenase 2	Hereditary pheochromocytoma-paraganglioma?0011984	https://raresource.nih.gov/literature/gene/MDH2	4191	ENSG00000146701	6971	https://pubmed.ncbi.nlm.nih.gov/?term=MDH2	None	None	8463	2140
MDM2	MDM2 proto-oncogene	Li-Fraumeni syndrome?0006902	https://raresource.nih.gov/literature/gene/MDM2	4193	ENSG00000135679	6973	https://pubmed.ncbi.nlm.nih.gov/?term=MDM2	None	None	16802	10518
MECOM	MDS1 and EVI1 complex locus	Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)?0012759	https://raresource.nih.gov/literature/gene/MECOM	2122	ENSG00000085276	3498	https://pubmed.ncbi.nlm.nih.gov/?term=MECOM	None	None	217877	752
MECP2	methyl-CpG binding protein 2	Rett syndrome?0005696;Atypical Rett syndrome?0004694;X-linked intellectual disability-psychosis-macroorchidism syndrome?0003506;Proximal Xq28 duplication syndrome?0009781	https://raresource.nih.gov/literature/gene/MECP2	4204	ENSG00000169057	6990	https://pubmed.ncbi.nlm.nih.gov/?term=MECP2	None	None	23873	3900
MECR	mitochondrial trans-2-enoyl-CoA reductase	MEPAN syndrome?0013488	https://raresource.nih.gov/literature/gene/MECR	51102	ENSG00000116353	19691	https://pubmed.ncbi.nlm.nih.gov/?term=MECR	None	None	15102	311
MED12	mediator complex subunit 12	Lujan-Fryns syndrome?0003307;FG syndrome type 1?0002317	https://raresource.nih.gov/literature/gene/MED12	9968	ENSG00000184634	11957	https://pubmed.ncbi.nlm.nih.gov/?term=MED12	None	None	6149	2286
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	23
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	78
MEF2C	myocyte enhancer factor 2C	5q14.3 microdeletion syndrome?0012166	https://raresource.nih.gov/literature/gene/MEF2C	4208	ENSG00000081189	6996	https://pubmed.ncbi.nlm.nih.gov/?term=MEF2C	None	None	71739	1531
MEFV	MEFV innate immunity regulator, pyrin	Behçet disease?0000848;Sweet syndrome?0000521;Familial Mediterranean fever?0006421	https://raresource.nih.gov/literature/gene/MEFV	4210	ENSG00000103313	6998	https://pubmed.ncbi.nlm.nih.gov/?term=MEFV	None	None	7083	1788
MEG3	maternally expressed 3	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14?0005409	https://raresource.nih.gov/literature/gene/MEG3	55384	ENSG00000214548	14575	https://pubmed.ncbi.nlm.nih.gov/?term=MEG3	None	None	29802	1407
MEGF10	multiple EGF like domains 10	Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome?0012199	https://raresource.nih.gov/literature/gene/MEGF10	84466	ENSG00000145794	29634	https://pubmed.ncbi.nlm.nih.gov/?term=MEGF10	None	None	61453	101
MEGF8	multiple EGF like domains 8	Carpenter syndrome?0006003	https://raresource.nih.gov/literature/gene/MEGF8	1954	ENSG00000105429	3233	https://pubmed.ncbi.nlm.nih.gov/?term=MEGF8	None	None	16118	147
MEIOB	meiosis specific with OB-fold	Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/MEIOB	254528	ENSG00000162039	28569	https://pubmed.ncbi.nlm.nih.gov/?term=MEIOB	None	None	20625	30
MEN1	menin 1	Prolactinoma?0004508;Pituitary gigantism?0006506;Multiple endocrine neoplasia type 1?0003829;Insulinoma?0003010	https://raresource.nih.gov/literature/gene/MEN1	4221	ENSG00000133895	7010	https://pubmed.ncbi.nlm.nih.gov/?term=MEN1	None	None	6172	2073
MEOX1	mesenchyme homeobox 1	Isolated 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	124
MERTK	MER proto-oncogene, tyrosine kinase	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/MERTK	10461	ENSG00000153208	7027	https://pubmed.ncbi.nlm.nih.gov/?term=MERTK	None	None	54000	1646
MESD	mesoderm development LRP chaperone	Osteogenesis imperfecta type 2?0010142	https://raresource.nih.gov/literature/gene/MESD	23184	ENSG00000117899	13520	https://pubmed.ncbi.nlm.nih.gov/?term=MESD	None	None	14567	57
MESP2	mesoderm posterior bHLH transcription factor 2	Autosomal recessive spondylocostal dysostosis?0006798	https://raresource.nih.gov/literature/gene/MESP2	145873	ENSG00000188095	29659	https://pubmed.ncbi.nlm.nih.gov/?term=MESP2	None	None	7351	98
MET	MET proto-oncogene, receptor tyrosine kinase	Papillary renal cell carcinoma?0009572;Pediatric hepatocellular carcinoma?0009331;Osteofibrous dysplasia?0010887	https://raresource.nih.gov/literature/gene/MET	4233	ENSG00000105976	7029	https://pubmed.ncbi.nlm.nih.gov/?term=MET	None	None	49208	18671
METTL27	methyltransferase like 27	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/METTL27	155368	ENSG00000165171	19068	https://pubmed.ncbi.nlm.nih.gov/?term=METTL27	None	None	6159	8
METTL5	methyltransferase 5, N6-adenosine	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	51
MFAP5	microfibril associated protein 5	Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/MFAP5	8076	ENSG00000197614	29673	https://pubmed.ncbi.nlm.nih.gov/?term=MFAP5	None	None	5584	126
MFN2	mitofusin 2	Multiple symmetric lipomatosis?0006957;Hereditary motor and sensory neuropathy type 5?0009208	https://raresource.nih.gov/literature/gene/MFN2	9927	ENSG00000116688	16877	https://pubmed.ncbi.nlm.nih.gov/?term=MFN2	None	None	15764	2393
MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	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	188
MFSD8	major facilitator superfamily domain containing 8	CLN7 disease?0001220	https://raresource.nih.gov/literature/gene/MFSD8	256471	ENSG00000164073	28486	https://pubmed.ncbi.nlm.nih.gov/?term=MFSD8	None	None	19320	111
MGAT2	alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	MGAT2-CDG?0009828	https://raresource.nih.gov/literature/gene/MGAT2	4247	ENSG00000168282	7045	https://pubmed.ncbi.nlm.nih.gov/?term=MGAT2	None	None	1161	151
MGMT	O-6-methylguanine-DNA methyltransferase	Gliosarcoma?0005653;Familial melanoma?0003460	https://raresource.nih.gov/literature/gene/MGMT	4255	ENSG00000170430	7059	https://pubmed.ncbi.nlm.nih.gov/?term=MGMT	None	None	110996	5507
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	1195
MIB1	MIB E3 ubiquitin protein ligase 1	Left ventricular noncompaction?0010985	https://raresource.nih.gov/literature/gene/MIB1	57534	ENSG00000101752	21086	https://pubmed.ncbi.nlm.nih.gov/?term=MIB1	None	None	41054	1170
MIB2	MIB E3 ubiquitin protein ligase 2	Left ventricular noncompaction?0010985	https://raresource.nih.gov/literature/gene/MIB2	142678	ENSG00000197530	30577	https://pubmed.ncbi.nlm.nih.gov/?term=MIB2	None	None	8763	53
MICOS13	mitochondrial contact site and cristae organizing system subunit 13	3-methylglutaconic aciduria type 3?0005663	https://raresource.nih.gov/literature/gene/MICOS13	125988	ENSG00000174917	33702	https://pubmed.ncbi.nlm.nih.gov/?term=MICOS13	None	None	985	29
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	257
MID1	midline 1	Opitz GBBB syndrome?0000193	https://raresource.nih.gov/literature/gene/MID1	4281	ENSG00000101871	7095	https://pubmed.ncbi.nlm.nih.gov/?term=MID1	None	None	64731	1607
MIF	macrophage migration inhibitory factor	Cystic fibrosis?0006233;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	5962
MINPP1	multiple inositol-polyphosphate phosphatase 1	Familial papillary or follicular thyroid carcinoma?0008488;Thyroid cancer, nonmedullary, 2?0005206	https://raresource.nih.gov/literature/gene/MINPP1	9562	ENSG00000107789	7102	https://pubmed.ncbi.nlm.nih.gov/?term=MINPP1	None	None	17439	66
MIP	major intrinsic protein of lens fiber	Cerulean cataract?0009508;Total early-onset cataract?0001159	https://raresource.nih.gov/literature/gene/MIP	4284	ENSG00000135517	7103	https://pubmed.ncbi.nlm.nih.gov/?term=MIP	None	None	1822	11011
MITF	melanocyte inducing transcription factor	Waardenburg-Shah syndrome?0005524;Papillary renal cell carcinoma?0009572;Tietz syndrome?0007772;Waardenburg syndrome type 2?0005520;Familial melanoma?0003460	https://raresource.nih.gov/literature/gene/MITF	4286	ENSG00000187098	7105	https://pubmed.ncbi.nlm.nih.gov/?term=MITF	None	None	95525	3717
MKKS	MKKS centrosomal shuttling protein	Bardet-Biedl syndrome?0006866;McKusick-Kaufman syndrome?0003427;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	288
MKS1	MKS transition zone complex subunit 1	Joubert syndrome with ocular defect?0010168;Joubert syndrome?0006802;Meckel syndrome?0003436;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/MKS1	54903	ENSG00000011143	7121	https://pubmed.ncbi.nlm.nih.gov/?term=MKS1	None	None	3740	205
MLC1	modulator of VRAC current 1	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	2289
MLH1	mutL homolog 1	Muir-Torre syndrome?0006821;Lynch syndrome?0009905;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	6650
MLH3	mutL homolog 3	Lynch syndrome?0009905	https://raresource.nih.gov/literature/gene/MLH3	27030	ENSG00000119684	7128	https://pubmed.ncbi.nlm.nih.gov/?term=MLH3	None	None	13960	247
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	208
MLX	MAX dimerization protein MLX	Takayasu arteritis?0007730	https://raresource.nih.gov/literature/gene/MLX	6945	ENSG00000108788	11645	https://pubmed.ncbi.nlm.nih.gov/?term=MLX	None	None	2707	170
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	961
MLYCD	malonyl-CoA decarboxylase	Malonic aciduria?0003371	https://raresource.nih.gov/literature/gene/MLYCD	23417	ENSG00000103150	7150	https://pubmed.ncbi.nlm.nih.gov/?term=MLYCD	None	None	13338	299
MMEL1	membrane metalloendopeptidase like 1	Primary biliary cholangitis?0007459	https://raresource.nih.gov/literature/gene/MMEL1	79258	ENSG00000142606	14668	https://pubmed.ncbi.nlm.nih.gov/?term=MMEL1	None	None	18371	588
MMP1	matrix metallopeptidase 1	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form?0006308	https://raresource.nih.gov/literature/gene/MMP1	4312	ENSG00000196611	7155	https://pubmed.ncbi.nlm.nih.gov/?term=MMP1	None	None	2338	3059
MMP13	matrix metallopeptidase 13	Metaphyseal chondrodysplasia, Spahr type?0003563;Spondyloepimetaphyseal dysplasia, Missouri type?0010618;Metaphyseal anadysplasia?0003562	https://raresource.nih.gov/literature/gene/MMP13	4322	ENSG00000137745	7159	https://pubmed.ncbi.nlm.nih.gov/?term=MMP13	None	None	4264	6243
MMP14	matrix metallopeptidase 14	Winchester syndrome?0007894	https://raresource.nih.gov/literature/gene/MMP14	4323	ENSG00000157227	7160	https://pubmed.ncbi.nlm.nih.gov/?term=MMP14	None	None	4606	3905
MMP2	matrix metallopeptidase 2	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	25104
MMP20	matrix metallopeptidase 20	Hypomaturation amelogenesis imperfecta?0008349	https://raresource.nih.gov/literature/gene/MMP20	9313	ENSG00000137674	7167	https://pubmed.ncbi.nlm.nih.gov/?term=MMP20	None	None	12852	303
MMP21	matrix metallopeptidase 21	Situs inversus totalis?0004883	https://raresource.nih.gov/literature/gene/MMP21	118856	ENSG00000154485	14357	https://pubmed.ncbi.nlm.nih.gov/?term=MMP21	None	None	4550	52
MMP23B	matrix metallopeptidase 23B	1p36 deletion syndrome?0006082	https://raresource.nih.gov/literature/gene/MMP23B	8510	ENSG00000189409	7171	https://pubmed.ncbi.nlm.nih.gov/?term=MMP23B	None	None	2151	84
MMP9	matrix metallopeptidase 9	Metaphyseal anadysplasia?0003562	https://raresource.nih.gov/literature/gene/MMP9	4318	ENSG00000100985	7176	https://pubmed.ncbi.nlm.nih.gov/?term=MMP9	None	None	4016	36414
MMVP1	Mitral valve prolapse, myxomatous 1	Mitral valve prolapse 1?0003688	https://raresource.nih.gov/literature/gene/MMVP1	50951			https://pubmed.ncbi.nlm.nih.gov/?term=MMVP1	None	None	None	322
MNRI	Meningioma, radiation-induced	Meningioma, radiation-induced?0008491	https://raresource.nih.gov/literature/gene/MNRI	117192			https://pubmed.ncbi.nlm.nih.gov/?term=MNRI	None	None	None	1
MNX1	motor neuron and pancreas homeobox 1	Currarino syndrome?0001626	https://raresource.nih.gov/literature/gene/MNX1	3110	ENSG00000130675	4979	https://pubmed.ncbi.nlm.nih.gov/?term=MNX1	None	None	8077	394
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	675
MOG	myelin oligodendrocyte glycoprotein	Narcolepsy type 1?0007162	https://raresource.nih.gov/literature/gene/MOG	4340	ENSG00000204655	7197	https://pubmed.ncbi.nlm.nih.gov/?term=MOG	None	None	6681	3602
MOGS	mannosyl-oligosaccharide glucosidase	MOGS-CDG?0010767	https://raresource.nih.gov/literature/gene/MOGS	7841	ENSG00000115275	24862	https://pubmed.ncbi.nlm.nih.gov/?term=MOGS	None	None	3416	271
MPDU1	mannose-P-dolichol utilization defect 1	MPDU1-CDG?0009832	https://raresource.nih.gov/literature/gene/MPDU1	9526	ENSG00000129255	7207	https://pubmed.ncbi.nlm.nih.gov/?term=MPDU1	None	None	2472	34
MPI	mannose phosphate isomerase	MPI-CDG?0009830	https://raresource.nih.gov/literature/gene/MPI	4351	ENSG00000178802	7216	https://pubmed.ncbi.nlm.nih.gov/?term=MPI	None	None	4745	627
MPL	MPL proto-oncogene, thrombopoietin receptor	Congenital amegakaryocytic thrombocytopenia?0000640;Essential thrombocythemia?0006594;Primary myelofibrosis?0008618;Polycythemia vera?0007422	https://raresource.nih.gov/literature/gene/MPL	4352	ENSG00000117400	7217	https://pubmed.ncbi.nlm.nih.gov/?term=MPL	None	None	8345	3393
MPLKIP	M-phase specific PLK1 interacting protein	Trichothiodystrophy?0012109	https://raresource.nih.gov/literature/gene/MPLKIP	136647	ENSG00000168303	16002	https://pubmed.ncbi.nlm.nih.gov/?term=MPLKIP	None	None	4187	36
MPO	myeloperoxidase	Myeloperoxidase deficiency?0003868	https://raresource.nih.gov/literature/gene/MPO	4353	ENSG00000005381	7218	https://pubmed.ncbi.nlm.nih.gov/?term=MPO	None	None	4105	26571
MPV17	mitochondrial inner membrane protein MPV17	Navajo neurohepatopathy?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;Dejerine-Sottas syndrome?0009204	https://raresource.nih.gov/literature/gene/MPZ	4359	ENSG00000158887	7225	https://pubmed.ncbi.nlm.nih.gov/?term=MPZ	None	None	5365	1871
MRAP	melanocortin 2 receptor accessory protein	Familial glucocorticoid deficiency?0002498	https://raresource.nih.gov/literature/gene/MRAP	56246	ENSG00000170262	1304	https://pubmed.ncbi.nlm.nih.gov/?term=MRAP	None	None	7930	1332
MRAS	muscle RAS oncogene homolog	Noonan syndrome?0010955	https://raresource.nih.gov/literature/gene/MRAS	22808	ENSG00000158186	7227	https://pubmed.ncbi.nlm.nih.gov/?term=MRAS	None	None	19949	160
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	17
MRPS22	mitochondrial ribosomal protein S22	46,XX gonadal dysgenesis?0005671	https://raresource.nih.gov/literature/gene/MRPS22	56945	ENSG00000175110	14508	https://pubmed.ncbi.nlm.nih.gov/?term=MRPS22	None	None	125111	26
MS4A1	membrane spanning 4-domains A1	Common variable immunodeficiency?0006140	https://raresource.nih.gov/literature/gene/MS4A1	931	ENSG00000156738	7315	https://pubmed.ncbi.nlm.nih.gov/?term=MS4A1	None	None	6487	12183
MSH2	mutS homolog 2	Muir-Torre syndrome?0006821;Lynch syndrome?0009905	https://raresource.nih.gov/literature/gene/MSH2	4436	ENSG00000095002	7325	https://pubmed.ncbi.nlm.nih.gov/?term=MSH2	None	None	138307	5502
MSH6	mutS homolog 6	Muir-Torre syndrome?0006821;Lynch syndrome?0009905	https://raresource.nih.gov/literature/gene/MSH6	2956	ENSG00000116062	7329	https://pubmed.ncbi.nlm.nih.gov/?term=MSH6	None	None	75781	3261
MSMB	microseminoprotein beta	Familial prostate cancer?0004520	https://raresource.nih.gov/literature/gene/MSMB	4477	ENSG00000263639	7372	https://pubmed.ncbi.nlm.nih.gov/?term=MSMB	None	None	6445	94
MSR1	macrophage scavenger receptor 1	Familial prostate cancer?0004520	https://raresource.nih.gov/literature/gene/MSR1	4481	ENSG00000038945	7376	https://pubmed.ncbi.nlm.nih.gov/?term=MSR1	None	None	224183	1601
MST1	macrophage stimulating 1	Primary sclerosing cholangitis?0001280	https://raresource.nih.gov/literature/gene/MST1	4485	ENSG00000173531	7380	https://pubmed.ncbi.nlm.nih.gov/?term=MST1	None	None	3208	1892
MSTN	myostatin	Myostatin-related muscle hypertrophy?0010238	https://raresource.nih.gov/literature/gene/MSTN	2660	ENSG00000138379	4223	https://pubmed.ncbi.nlm.nih.gov/?term=MSTN	None	None	3901	3614
MSX1	msh homeobox 1	Hypodontia-dysplasia of nails syndrome?0005587	https://raresource.nih.gov/literature/gene/MSX1	4487	ENSG00000163132	7391	https://pubmed.ncbi.nlm.nih.gov/?term=MSX1	None	None	4380	1055
MSX2	msh homeobox 2	Craniosynostosis, Boston type?0005538	https://raresource.nih.gov/literature/gene/MSX2	4488	ENSG00000120149	7392	https://pubmed.ncbi.nlm.nih.gov/?term=MSX2	None	None	4402	26
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	665
MTHFR	methylenetetrahydrofolate reductase	Homocystinuria due to methylene tetrahydrofolate reductase deficiency?0002734	https://raresource.nih.gov/literature/gene/MTHFR	4524	ENSG00000177000	7436	https://pubmed.ncbi.nlm.nih.gov/?term=MTHFR	None	None	7035	7693
MTM1	myotubularin 1	X-linked centronuclear myopathy?0011925	https://raresource.nih.gov/literature/gene/MTM1	4534	ENSG00000171100	7448	https://pubmed.ncbi.nlm.nih.gov/?term=MTM1	None	None	17082	420
MTMR14	myotubularin related protein 14	Autosomal dominant centronuclear myopathy?0012719	https://raresource.nih.gov/literature/gene/MTMR14	64419	ENSG00000163719	26190	https://pubmed.ncbi.nlm.nih.gov/?term=MTMR14	None	None	21792	38
MTOR	mechanistic target of rapamycin kinase	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome?0013636	https://raresource.nih.gov/literature/gene/MTOR	2475	ENSG00000198793	3942	https://pubmed.ncbi.nlm.nih.gov/?term=MTOR	None	None	69895	49871
MTPAP	mitochondrial poly(A) polymerase	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome?0010992	https://raresource.nih.gov/literature/gene/MTPAP	55149	ENSG00000107951	25532	https://pubmed.ncbi.nlm.nih.gov/?term=MTPAP	None	None	25184	40
MTR	5-methyltetrahydrofolate-homocysteine methyltransferase	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	2163
MTTP	microsomal triglyceride transfer protein	Abetalipoproteinemia?0000005	https://raresource.nih.gov/literature/gene/MTTP	4547	ENSG00000138823	7467	https://pubmed.ncbi.nlm.nih.gov/?term=MTTP	None	None	21925	7210
MTX2	metaxin 2	Mandibuloacral dysplasia with type A lipodystrophy?0003374	https://raresource.nih.gov/literature/gene/MTX2	10651	ENSG00000128654	7506	https://pubmed.ncbi.nlm.nih.gov/?term=MTX2	None	None	26704	4
MUC1	mucin 1, cell surface associated	MUC1-related autosomal dominant tubulointerstitial kidney disease?0007002	https://raresource.nih.gov/literature/gene/MUC1	4582	ENSG00000185499	7508	https://pubmed.ncbi.nlm.nih.gov/?term=MUC1	None	None	3997	12543
MUC5B	mucin 5B, oligomeric mucus/gel-forming	Diffuse panbronchiolitis?0008526;Idiopathic pulmonary fibrosis?0008609	https://raresource.nih.gov/literature/gene/MUC5B	727897	ENSG00000117983	7516	https://pubmed.ncbi.nlm.nih.gov/?term=MUC5B	None	None	24412	1357
MUCL3	mucin like 3	Diffuse panbronchiolitis?0008526	https://raresource.nih.gov/literature/gene/MUCL3	135656	ENSG00000168631	21666	https://pubmed.ncbi.nlm.nih.gov/?term=MUCL3	None	None	7006	27
MUSK	muscle associated receptor tyrosine kinase	Fetal akinesia deformation sequence?0009634	https://raresource.nih.gov/literature/gene/MUSK	4593	ENSG00000030304	7525	https://pubmed.ncbi.nlm.nih.gov/?term=MUSK	None	None	57006	1913
MUTYH	mutY DNA glycosylase	MUTYH-related attenuated familial adenomatous polyposis?0010805	https://raresource.nih.gov/literature/gene/MUTYH	4595	ENSG00000132781	7527	https://pubmed.ncbi.nlm.nih.gov/?term=MUTYH	None	None	6799	1139
MVD	mevalonate diphosphate decarboxylase	Disseminated superficial actinic porokeratosis?0010983	https://raresource.nih.gov/literature/gene/MVD	4597	ENSG00000167508	7529	https://pubmed.ncbi.nlm.nih.gov/?term=MVD	None	None	5173	229
MVK	mevalonate kinase	Porokeratosis of Mibelli?0004438;Hyperimmunoglobulinemia D with periodic fever?0002788;Mevalonic aciduria?0003588;Disseminated superficial actinic porokeratosis?0010983;Porokeratosis 3, multiple types?0009505	https://raresource.nih.gov/literature/gene/MVK	4598	ENSG00000110921	7530	https://pubmed.ncbi.nlm.nih.gov/?term=MVK	None	None	6638	1446
MYBPC1	myosin binding protein C1	Lethal congenital contracture syndrome 4?0012645;Distal arthrogryposis type 1?0000787	https://raresource.nih.gov/literature/gene/MYBPC1	4604	ENSG00000196091	7549	https://pubmed.ncbi.nlm.nih.gov/?term=MYBPC1	None	None	24171	85
MYBPC3	myosin binding protein C3	Familial isolated dilated cardiomyopathy?0002905;Left ventricular noncompaction?0010985	https://raresource.nih.gov/literature/gene/MYBPC3	4607	ENSG00000134571	7551	https://pubmed.ncbi.nlm.nih.gov/?term=MYBPC3	None	None	12046	1233
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	44282
MYCN	MYCN proto-oncogene, bHLH transcription factor	Neuroblastoma?0007185	https://raresource.nih.gov/literature/gene/MYCN	4613	ENSG00000134323	7559	https://pubmed.ncbi.nlm.nih.gov/?term=MYCN	None	None	5101	4752
MYD88	MYD88 innate immune signal transduction adaptor	Bacterial susceptibility due to TLR signaling pathway deficiency?0012638;Waldenström macroglobulinemia?0007872	https://raresource.nih.gov/literature/gene/MYD88	4615	ENSG00000172936	7562	https://pubmed.ncbi.nlm.nih.gov/?term=MYD88	None	None	2818	10770
MYF6	myogenic factor 6	Autosomal dominant centronuclear myopathy?0012719	https://raresource.nih.gov/literature/gene/MYF6	4618	ENSG00000111046	7566	https://pubmed.ncbi.nlm.nih.gov/?term=MYF6	None	None	1882	603
MYH11	myosin heavy chain 11	Megacystis-microcolon-intestinal hypoperistalsis syndrome?0003442;Aortic aneurysm, familial thoracic 4?0009876;Familial aortic dissection?0001654;Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)?0000536;Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/MYH11	4629	ENSG00000133392	7569	https://pubmed.ncbi.nlm.nih.gov/?term=MYH11	None	None	60153	1157
MYH2	myosin heavy chain 2	Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome?0009494	https://raresource.nih.gov/literature/gene/MYH2	4620	ENSG00000125414	7572	https://pubmed.ncbi.nlm.nih.gov/?term=MYH2	None	None	9148	439
MYH3	myosin heavy chain 3	Freeman-Sheldon syndrome?0006466;Autosomal recessive multiple pterygium syndrome?0007111;Spondylocarpotarsal synostosis?0004974;Distal arthrogryposis type 1?0000787	https://raresource.nih.gov/literature/gene/MYH3	4621	ENSG00000109063	7573	https://pubmed.ncbi.nlm.nih.gov/?term=MYH3	None	None	9748	215
MYH6	myosin heavy chain 6	Familial isolated dilated cardiomyopathy?0002905;Familial sick sinus syndrome?0013663;Atrial septal defect, ostium secundum type?0005865	https://raresource.nih.gov/literature/gene/MYH6	4624	ENSG00000197616	7576	https://pubmed.ncbi.nlm.nih.gov/?term=MYH6	None	None	10070	1915
MYH7	myosin heavy chain 7	MYH7-related late-onset scapuloperoneal muscular dystrophy?0010313;Ebstein malformation of the tricuspid valve?0006313;Familial isolated dilated cardiomyopathy?0002905;Classic multiminicore myopathy?0013661;Left ventricular noncompaction?0010985;Laing early-onset distal myopathy?0010769;Hyaline body myopathy?0007148	https://raresource.nih.gov/literature/gene/MYH7	4625	ENSG00000092054	7577	https://pubmed.ncbi.nlm.nih.gov/?term=MYH7	None	None	10218	1166
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	167
MYH8	myosin heavy chain 8	Trismus-pseudocamptodactyly syndrome?0002621	https://raresource.nih.gov/literature/gene/MYH8	4626	ENSG00000133020	7578	https://pubmed.ncbi.nlm.nih.gov/?term=MYH8	None	None	9376	88
MYH9	myosin heavy chain 9	Deafness, autosomal dominant 17?0009726;MYH9-related disease?0000180	https://raresource.nih.gov/literature/gene/MYH9	4627	ENSG00000100345	7579	https://pubmed.ncbi.nlm.nih.gov/?term=MYH9	None	None	39706	1000
MYL2	myosin light chain 2	Congenital fiber-type disproportion myopathy?0006161	https://raresource.nih.gov/literature/gene/MYL2	4633	ENSG00000111245	7583	https://pubmed.ncbi.nlm.nih.gov/?term=MYL2	None	None	4824	995
MYL4	myosin light chain 4	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	221
MYLK	myosin light chain kinase	Megacystis-microcolon-intestinal hypoperistalsis syndrome?0003442;Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/MYLK	4638	ENSG00000065534	7590	https://pubmed.ncbi.nlm.nih.gov/?term=MYLK	None	None	95620	3612
MYMK	myomaker, myoblast fusion factor	Carey-Fineman-Ziter syndrome?0003889	https://raresource.nih.gov/literature/gene/MYMK	389827	ENSG00000187616	33778	https://pubmed.ncbi.nlm.nih.gov/?term=MYMK	None	None	6830	106
MYO1E	myosin IE	Genetic 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	227
MYO1H	myosin IH	Congenital central hypoventilation syndrome?0008535	https://raresource.nih.gov/literature/gene/MYO1H	283446	ENSG00000174527	13879	https://pubmed.ncbi.nlm.nih.gov/?term=MYO1H	None	None	35783	22
MYO5A	myosin VA	Griscelli syndrome type 1?0002566;Griscelli syndrome type 3?0009715	https://raresource.nih.gov/literature/gene/MYO5A	4644	ENSG00000197535	7602	https://pubmed.ncbi.nlm.nih.gov/?term=MYO5A	None	None	55522	1131
MYO5B	myosin VB	Microvillus inclusion disease?0007039;Progressive familial intrahepatic cholestasis type 1?0009802	https://raresource.nih.gov/literature/gene/MYO5B	4645	ENSG00000167306	7603	https://pubmed.ncbi.nlm.nih.gov/?term=MYO5B	None	None	95230	218
MYO6	myosin VI	Deafness, autosomal dominant 22?0009167	https://raresource.nih.gov/literature/gene/MYO6	4646	ENSG00000196586	7605	https://pubmed.ncbi.nlm.nih.gov/?term=MYO6	None	None	67140	539
MYO7A	myosin VIIA	Usher syndrome type 2?0005440;Usher syndrome type 1?0005435	https://raresource.nih.gov/literature/gene/MYO7A	4647	ENSG00000137474	7606	https://pubmed.ncbi.nlm.nih.gov/?term=MYO7A	None	None	25293	609
MYOC	myocilin	Congenital glaucoma?0002485;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	786
MYOD1	myogenic differentiation 1	Fetal akinesia deformation sequence?0009634	https://raresource.nih.gov/literature/gene/MYOD1	4654	ENSG00000129152	7611	https://pubmed.ncbi.nlm.nih.gov/?term=MYOD1	None	None	2732	5099
MYORG	myogenesis regulating glycosidase (putative)	Bilateral striopallidodentate calcinosis?0006406	https://raresource.nih.gov/literature/gene/MYORG	57462	ENSG00000164976	19918	https://pubmed.ncbi.nlm.nih.gov/?term=MYORG	None	None	5596	65
MYOT	myotilin	Autosomal dominant limb-girdle muscular dystrophy type 1A?0010229;Spheroid body myopathy?0008711	https://raresource.nih.gov/literature/gene/MYOT	9499	ENSG00000120729	12399	https://pubmed.ncbi.nlm.nih.gov/?term=MYOT	None	None	8057	169
MYPN	myopalladin	Childhood-onset nemaline myopathy?0007171;Cap myopathy?0011915;Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/MYPN	84665	ENSG00000138347	23246	https://pubmed.ncbi.nlm.nih.gov/?term=MYPN	None	None	41108	65
MYT1L	myelin transcription factor 1 like	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/MYT1L	23040	ENSG00000186487	7623	https://pubmed.ncbi.nlm.nih.gov/?term=MYT1L	None	None	219732	149
NAA10	N-alpha-acetyltransferase 10, NatA catalytic subunit	Microphthalmia, Lenz type?0000087	https://raresource.nih.gov/literature/gene/NAA10	8260	ENSG00000102030	18704	https://pubmed.ncbi.nlm.nih.gov/?term=NAA10	None	None	1344	273
NABP1	nucleic acid binding protein 1	Acute promyelocytic leukemia?0000538	https://raresource.nih.gov/literature/gene/NABP1	64859	ENSG00000173559	26232	https://pubmed.ncbi.nlm.nih.gov/?term=NABP1	None	None	9006	76
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	36
NAGA	alpha-N-acetylgalactosaminidase	Alpha-N-acetylgalactosaminidase deficiency type 2?0009161;Alpha-N-acetylgalactosaminidase deficiency type 3?0003903;Alpha-N-acetylgalactosaminidase deficiency type 1?0000116	https://raresource.nih.gov/literature/gene/NAGA	4668	ENSG00000198951	7631	https://pubmed.ncbi.nlm.nih.gov/?term=NAGA	None	None	4925	337
NAGLU	N-acetyl-alpha-glucosaminidase	Sanfilippo syndrome type B?0007072	https://raresource.nih.gov/literature/gene/NAGLU	4669	ENSG00000108784	7632	https://pubmed.ncbi.nlm.nih.gov/?term=NAGLU	None	None	4145	2523
NAGS	N-acetylglutamate synthase	Hyperammonemia due to N-acetylglutamate synthase deficiency?0007158	https://raresource.nih.gov/literature/gene/NAGS	162417	ENSG00000161653	17996	https://pubmed.ncbi.nlm.nih.gov/?term=NAGS	None	None	2219	262
NAIP	NLR family apoptosis inhibitory protein	Proximal spinal muscular atrophy type 2?0004945;Proximal spinal muscular atrophy type 1?0007883;Proximal spinal muscular atrophy type 3?0000198	https://raresource.nih.gov/literature/gene/NAIP	4671	ENSG00000249437	7634	https://pubmed.ncbi.nlm.nih.gov/?term=NAIP	None	None	12091	483
NALCN	sodium leak channel, non-selective	Freeman-Sheldon syndrome?0006466;Distal arthrogryposis type 1?0000787	https://raresource.nih.gov/literature/gene/NALCN	259232	ENSG00000102452	19082	https://pubmed.ncbi.nlm.nih.gov/?term=NALCN	None	None	88428	173
NANOS1	nanos C2HC-type zinc finger 1	Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/NANOS1	340719	ENSG00000188613	23044	https://pubmed.ncbi.nlm.nih.gov/?term=NANOS1	None	None	2119	1050
NANS	N-acetylneuraminate synthase	Spondyloepimetaphyseal dysplasia, Geneviève type?0010057	https://raresource.nih.gov/literature/gene/NANS	54187	ENSG00000095380	19237	https://pubmed.ncbi.nlm.nih.gov/?term=NANS	None	None	6657	209
NBAS	NBAS subunit of NRZ tethering complex	Infantile liver failure syndrome 2?0013113;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	2380
NBEA	neurobeachin	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	94
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	236
NBN	nibrin	Nijmegen breakage syndrome?0003904;Familial prostate cancer?0004520	https://raresource.nih.gov/literature/gene/NBN	4683	ENSG00000104320	7652	https://pubmed.ncbi.nlm.nih.gov/?term=NBN	None	None	32481	2215
NCAPD3	non-SMC condensin II complex subunit D3	Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/NCAPD3	23310	ENSG00000151503	28952	https://pubmed.ncbi.nlm.nih.gov/?term=NCAPD3	None	None	31952	49
NCF1	neutrophil cytosolic factor 1	Williams syndrome?0007891;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	1871
NCF2	neutrophil cytosolic factor 2	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	869
NCF4	neutrophil cytosolic factor 4	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	362
NCOA4	nuclear receptor coactivator 4	Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/NCOA4	8031	ENSG00000266412	7671	https://pubmed.ncbi.nlm.nih.gov/?term=NCOA4	None	None	11132	759
NDE1	nudE neurodevelopment protein 1	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	211
NDNF	neuron derived neurotrophic factor	Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/NDNF	79625	ENSG00000173376	26256	https://pubmed.ncbi.nlm.nih.gov/?term=NDNF	None	None	14879	76
NDP	norrin cystine knot growth factor NDP	Retinopathy of prematurity?0005695;Familial exudative vitreoretinopathy?0001613;Norrie disease?0007224;Coats disease?0006121	https://raresource.nih.gov/literature/gene/NDP	4693	ENSG00000124479	7678	https://pubmed.ncbi.nlm.nih.gov/?term=NDP	None	None	5327	1089
NDUFA1	NADH:ubiquinone oxidoreductase subunit A1	Isolated 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	104
NDUFA11	NADH:ubiquinone oxidoreductase subunit A11	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFA11	126328	ENSG00000174886	20371	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFA11	None	None	4673	36
NDUFA13	NADH:ubiquinone oxidoreductase subunit A13	Thyroid carcinoma, hurthle cell?0009428;Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/NDUFA13	51079	ENSG00000186010	17194	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFA13	None	None	80	206
NDUFA2	NADH:ubiquinone oxidoreductase subunit A2	Cystic leukoencephalopathy without megalencephaly?0013199	https://raresource.nih.gov/literature/gene/NDUFA2	4695	ENSG00000131495	7685	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFA2	None	None	1262	12058
NDUFA6	NADH:ubiquinone oxidoreductase subunit A6	Isolated 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	143
NDUFAF1	NADH:ubiquinone oxidoreductase complex assembly factor 1	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFAF1	51103	ENSG00000137806	18828	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFAF1	None	None	7231	39
NDUFAF2	NADH:ubiquinone oxidoreductase complex assembly factor 2	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFAF2	91942	ENSG00000164182	28086	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFAF2	None	None	76465	51
NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFAF3	25915	ENSG00000178057	29918	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFAF3	None	None	794	72
NDUFAF4	NADH:ubiquinone oxidoreductase complex assembly factor 4	Isolated 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	19
NDUFAF5	NADH:ubiquinone oxidoreductase complex assembly factor 5	Isolated 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	35
NDUFAF6	NADH:ubiquinone oxidoreductase complex assembly factor 6	Primary Fanconi renotubular syndrome?0009118	https://raresource.nih.gov/literature/gene/NDUFAF6	137682	ENSG00000156170	28625	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFAF6	None	None	73385	41
NDUFAF8	NADH:ubiquinone oxidoreductase complex assembly factor 8	Isolated 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	3
NDUFB10	NADH:ubiquinone oxidoreductase subunit B10	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFB10	4716	ENSG00000140990	7696	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFB10	None	None	2468	32
NDUFB11	NADH:ubiquinone oxidoreductase subunit B11	Microphthalmia with linear skin defects syndrome?0003659;Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFB11	54539	ENSG00000147123	20372	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFB11	None	None	1257	50
NDUFB3	NADH:ubiquinone oxidoreductase subunit B3	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFB3	4709	ENSG00000119013	7698	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFB3	None	None	6191	399
NDUFB9	NADH:ubiquinone oxidoreductase subunit B9	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFB9	4715	ENSG00000147684	7704	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFB9	None	None	4483	71
NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFS1	4719	ENSG00000023228	7707	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFS1	None	None	19950	147
NDUFS2	NADH:ubiquinone oxidoreductase core subunit S2	Leber hereditary optic neuropathy?0006870;Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFS2	4720	ENSG00000158864	7708	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFS2	None	None	5932	109
NDUFS3	NADH:ubiquinone oxidoreductase core subunit S3	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFS3	4722	ENSG00000213619	7710	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFS3	None	None	2393	117
NDUFS4	NADH:ubiquinone oxidoreductase subunit S4	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFS4	4724	ENSG00000164258	7711	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFS4	None	None	48777	249
NDUFS6	NADH:ubiquinone oxidoreductase subunit S6	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFS6	4726	ENSG00000145494	7713	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFS6	None	None	7871	40
NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFS7	374291	ENSG00000115286	7714	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFS7	None	None	5271	152
NDUFS8	NADH:ubiquinone oxidoreductase core subunit S8	Isolated 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	80
NDUFV1	NADH:ubiquinone oxidoreductase core subunit V1	Isolated 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	127
NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NDUFV2	4729	ENSG00000178127	7717	https://pubmed.ncbi.nlm.nih.gov/?term=NDUFV2	None	None	8236	113
NEB	nebulin	Severe congenital nemaline myopathy?0012821;Intermediate nemaline myopathy?0012823;Lethal multiple pterygium syndrome?0003834;Childhood-onset nemaline myopathy?0007171;Typical nemaline myopathy?0012822	https://raresource.nih.gov/literature/gene/NEB	4703	ENSG00000183091	7720	https://pubmed.ncbi.nlm.nih.gov/?term=NEB	None	None	93625	611
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	1388
NEDD4L	NEDD4 like E3 ubiquitin protein ligase	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	908
NEFH	neurofilament heavy chain	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/NEFH	4744	ENSG00000100285	7737	https://pubmed.ncbi.nlm.nih.gov/?term=NEFH	None	None	5179	1155
NEK1	NIMA related kinase 1	Orofaciodigital syndrome type 2?0003701;Short rib-polydactyly syndrome, Majewski type?0004833;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/NEK1	4750	ENSG00000137601	7744	https://pubmed.ncbi.nlm.nih.gov/?term=NEK1	None	None	85577	436
NEK10	NIMA related kinase 10	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	36
NEK2	NIMA related kinase 2	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/NEK2	4751	ENSG00000117650	7745	https://pubmed.ncbi.nlm.nih.gov/?term=NEK2	None	None	6952	500
NEK9	NIMA related kinase 9	Nevus comedonicus syndrome?0013073	https://raresource.nih.gov/literature/gene/NEK9	91754	ENSG00000119638	18591	https://pubmed.ncbi.nlm.nih.gov/?term=NEK9	None	None	12047	815
NELFA	negative elongation factor complex member A	Wolf-Hirschhorn syndrome?0007896	https://raresource.nih.gov/literature/gene/NELFA	7469	ENSG00000185049	12768	https://pubmed.ncbi.nlm.nih.gov/?term=NELFA	None	None	12548	50
NEPRO	nucleolus and neural progenitor protein	Anauxetic dysplasia?0009657	https://raresource.nih.gov/literature/gene/NEPRO	25871	ENSG00000163608	24496	https://pubmed.ncbi.nlm.nih.gov/?term=NEPRO	None	None	6827	9
NEU1	neuraminidase 1	Sialidosis type 1?0007639	https://raresource.nih.gov/literature/gene/NEU1	4758	ENSG00000204386	7758	https://pubmed.ncbi.nlm.nih.gov/?term=NEU1	None	None	2800	8172
NEUROD1	neuronal differentiation 1	MODY?0003697	https://raresource.nih.gov/literature/gene/NEUROD1	4760	ENSG00000162992	7762	https://pubmed.ncbi.nlm.nih.gov/?term=NEUROD1	None	None	3636	2989
NEUROD2	neuronal differentiation 2	Early infantile epileptic encephalopathy?0009255	https://raresource.nih.gov/literature/gene/NEUROD2	4761	ENSG00000171532	7763	https://pubmed.ncbi.nlm.nih.gov/?term=NEUROD2	None	None	3208	145
NEXMIF	neurite extension and migration factor	Myoclonic-astatic epilepsy?0002169	https://raresource.nih.gov/literature/gene/NEXMIF	340533	ENSG00000050030	29433	https://pubmed.ncbi.nlm.nih.gov/?term=NEXMIF	None	None	38450	52
NEXN	nexilin F-actin binding protein	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/NEXN	91624	ENSG00000162614	29557	https://pubmed.ncbi.nlm.nih.gov/?term=NEXN	None	None	24417	76
NF1	neurofibromin 1	Juvenile myelomonocytic leukemia?0009884;17q11 microdeletion syndrome?0005408;Hereditary pheochromocytoma-paraganglioma?0011984;Alveolar rhabdomyosarcoma?0004701;Embryonal rhabdomyosarcoma?0004702;Neurofibromatosis-Noonan syndrome?0000372	https://raresource.nih.gov/literature/gene/NF1	4763	ENSG00000196712	7765	https://pubmed.ncbi.nlm.nih.gov/?term=NF1	None	None	93303	4640
NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	Schwannomatosis?0004768;Meningioma?0007015;Neurofibromatosis type 2?0007193	https://raresource.nih.gov/literature/gene/NF2	4771	ENSG00000186575	7773	https://pubmed.ncbi.nlm.nih.gov/?term=NF2	None	None	32256	2144
NFIX	nuclear factor I X	Marshall-Smith syndrome?0006985	https://raresource.nih.gov/literature/gene/NFIX	4784	ENSG00000008441	7788	https://pubmed.ncbi.nlm.nih.gov/?term=NFIX	None	None	28277	608
NFKB1	nuclear factor kappa B subunit 1	Common variable immunodeficiency?0006140	https://raresource.nih.gov/literature/gene/NFKB1	4790	ENSG00000109320	7794	https://pubmed.ncbi.nlm.nih.gov/?term=NFKB1	None	None	44868	36231
NFKB2	nuclear factor kappa B subunit 2	Common variable immunodeficiency?0006140	https://raresource.nih.gov/literature/gene/NFKB2	4791	ENSG00000077150	7795	https://pubmed.ncbi.nlm.nih.gov/?term=NFKB2	None	None	5002	1831
NFKBIA	NFKB inhibitor alpha	Hypohidrotic ectodermal dysplasia with immunodeficiency?0009936;Gliosarcoma?0005653;Nasopharyngeal carcinoma?0007163	https://raresource.nih.gov/literature/gene/NFKBIA	4792	ENSG00000100906	7797	https://pubmed.ncbi.nlm.nih.gov/?term=NFKBIA	None	None	3012	983
NGF	nerve growth factor	Hereditary sensory and autonomic neuropathy type 5?0012328	https://raresource.nih.gov/literature/gene/NGF	4803	ENSG00000134259	7808	https://pubmed.ncbi.nlm.nih.gov/?term=NGF	None	None	20178	21678
NGLY1	N-glycanase 1	Alacrimia-choreoathetosis-liver dysfunction syndrome?0012315	https://raresource.nih.gov/literature/gene/NGLY1	55768	ENSG00000151092	17646	https://pubmed.ncbi.nlm.nih.gov/?term=NGLY1	None	None	28476	359
NHLRC1	NHL repeat containing E3 ubiquitin protein ligase 1	Lafora disease?0008214	https://raresource.nih.gov/literature/gene/NHLRC1	378884	ENSG00000187566	21576	https://pubmed.ncbi.nlm.nih.gov/?term=NHLRC1	None	None	2554	275
NHP2	NHP2 ribonucleoprotein	Dyskeratosis congenita?0010905	https://raresource.nih.gov/literature/gene/NHP2	55651	ENSG00000145912	14377	https://pubmed.ncbi.nlm.nih.gov/?term=NHP2	None	None	2519	118
NHS	NHS actin remodeling regulator	Nance-Horan syndrome?0007161;Total early-onset cataract?0001159	https://raresource.nih.gov/literature/gene/NHS	4810	ENSG00000188158	7820	https://pubmed.ncbi.nlm.nih.gov/?term=NHS	None	None	54722	124
NIPA1	NIPA magnesium transporter 1	Autosomal dominant spastic paraplegia type 6?0004928;15q11.2 microdeletion syndrome?0010525	https://raresource.nih.gov/literature/gene/NIPA1	123606	ENSG00000170113	17043	https://pubmed.ncbi.nlm.nih.gov/?term=NIPA1	None	None	21459	138
NIPA2	NIPA magnesium transporter 2	15q11.2 microdeletion syndrome?0010525	https://raresource.nih.gov/literature/gene/NIPA2	81614	ENSG00000140157	17044	https://pubmed.ncbi.nlm.nih.gov/?term=NIPA2	None	None	12710	52
NIPAL4	NIPA like domain containing 4	Congenital non-bullous 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	53
NIPBL	NIPBL cohesin loading factor	Cornelia de Lange syndrome?0010109	https://raresource.nih.gov/literature/gene/NIPBL	25836	ENSG00000164190	28862	https://pubmed.ncbi.nlm.nih.gov/?term=NIPBL	None	None	72829	433
NKX2-1	NK2 homeobox 1	Brain-lung-thyroid syndrome?0012163;Benign hereditary chorea?0001305;Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/NKX2-1	7080	ENSG00000136352	11825	https://pubmed.ncbi.nlm.nih.gov/?term=NKX2-1	None	None	3349	4495
NKX2-5	NK2 homeobox 5	Atrial septal defect, ostium secundum type?0005865;Hypoplastic left heart syndrome?0006739;Familial atrial fibrillation?0009740;Familial progressive cardiac conduction defect?0010005;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/NKX2-5	1482	ENSG00000183072	2488	https://pubmed.ncbi.nlm.nih.gov/?term=NKX2-5	None	None	3561	1849
NKX2-6	NK2 homeobox 6	Familial atrial fibrillation?0009740;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	27
NLRP3	NLR family pyrin domain containing 3	Muckle-Wells syndrome?0008472;CINCA syndrome?0001356;Familial cold urticaria?0009535	https://raresource.nih.gov/literature/gene/NLRP3	114548	ENSG00000162711	16400	https://pubmed.ncbi.nlm.nih.gov/?term=NLRP3	None	None	15593	28802
NME7	NME/NM23 family member 7	Situs inversus totalis?0004883	https://raresource.nih.gov/literature/gene/NME7	29922	ENSG00000143156	20461	https://pubmed.ncbi.nlm.nih.gov/?term=NME7	None	None	83529	38
NME8	NME/NM23 family member 8	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	50
NMNAT1	nicotinamide nucleotide adenylyltransferase 1	Leber congenital amaurosis?0000634;Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/NMNAT1	64802	ENSG00000173614	17877	https://pubmed.ncbi.nlm.nih.gov/?term=NMNAT1	None	None	18199	309
NNT	nicotinamide nucleotide transhydrogenase	Familial glucocorticoid deficiency?0002498	https://raresource.nih.gov/literature/gene/NNT	23530	ENSG00000112992	7863	https://pubmed.ncbi.nlm.nih.gov/?term=NNT	None	None	38307	431
NOD2	nucleotide binding oligomerization domain containing 2	Blau syndrome?0000304	https://raresource.nih.gov/literature/gene/NOD2	64127	ENSG00000167207	5331	https://pubmed.ncbi.nlm.nih.gov/?term=NOD2	None	None	10950	5052
NODAL	nodal growth differentiation factor	Situs inversus totalis?0004883	https://raresource.nih.gov/literature/gene/NODAL	4838	ENSG00000156574	7865	https://pubmed.ncbi.nlm.nih.gov/?term=NODAL	None	None	4943	2067
NOG	noggin	Multiple synostoses syndrome?0003836;Proximal symphalangism?0008182;Tarsal-carpal coalition syndrome?0009225	https://raresource.nih.gov/literature/gene/NOG	9241	ENSG00000183691	7866	https://pubmed.ncbi.nlm.nih.gov/?term=NOG	None	None	2561	1971
NOP10	NOP10 ribonucleoprotein	Dyskeratosis congenita?0010905;Dyskeratosis congenita, autosomal recessive 1?0006300	https://raresource.nih.gov/literature/gene/NOP10	55505	ENSG00000182117	14378	https://pubmed.ncbi.nlm.nih.gov/?term=NOP10	None	None	1124	109
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	17945
NOS1AP	nitric oxide synthase 1 adaptor protein	Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/NOS1AP	9722	ENSG00000198929	16859	https://pubmed.ncbi.nlm.nih.gov/?term=NOS1AP	None	None	104315	240
NOTCH1	notch receptor 1	Adams-Oliver syndrome?0005739	https://raresource.nih.gov/literature/gene/NOTCH1	4851	ENSG00000148400	7881	https://pubmed.ncbi.nlm.nih.gov/?term=NOTCH1	None	None	33277	8787
NOTCH2	notch receptor 2	Hajdu-Cheney syndrome?0000508	https://raresource.nih.gov/literature/gene/NOTCH2	4853	ENSG00000134250	7882	https://pubmed.ncbi.nlm.nih.gov/?term=NOTCH2	None	None	84763	1907
NOTCH2NLC	notch 2 N-terminal like C	Oculopharyngodistal myopathy?0012592;Neuronal intranuclear inclusion disease?0003971	https://raresource.nih.gov/literature/gene/NOTCH2NLC	100996717	ENSG00000286219	53924	https://pubmed.ncbi.nlm.nih.gov/?term=NOTCH2NLC	None	None	2279	180
NOTCH3	notch receptor 3	Infantile myofibromatosis?0002998;Lateral meningocele syndrome?0009873;Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy?0001049	https://raresource.nih.gov/literature/gene/NOTCH3	4854	ENSG00000074181	7883	https://pubmed.ncbi.nlm.nih.gov/?term=NOTCH3	None	None	16883	2271
NPHP1	nephrocystin 1	Senior-Loken syndrome?0000322;Bardet-Biedl syndrome?0006866;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	260
NPHP3	nephrocystin 3	Senior-Loken syndrome?0000322;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	137
NPHP4	nephrocystin 4	Senior-Loken syndrome?0000322	https://raresource.nih.gov/literature/gene/NPHP4	261734	ENSG00000131697	19104	https://pubmed.ncbi.nlm.nih.gov/?term=NPHP4	None	None	52882	102
NPHS1	NPHS1 adhesion molecule, nephrin	Congenital nephrotic syndrome, Finnish type?0001500;Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/NPHS1	4868	ENSG00000161270	7908	https://pubmed.ncbi.nlm.nih.gov/?term=NPHS1	None	None	10742	2243
NPHS2	NPHS2 stomatin family member, podocin	Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/NPHS2	7827	ENSG00000116218	13394	https://pubmed.ncbi.nlm.nih.gov/?term=NPHS2	None	None	8352	1298
NPM1	nucleophosmin 1	Acute myeloblastic leukemia with maturation?0000527;Lymphomatoid papulosis?0006944;Dyskeratosis congenita?0010905;Acute promyelocytic leukemia?0000538;Acute myeloblastic leukemia without maturation?0000526	https://raresource.nih.gov/literature/gene/NPM1	4869	ENSG00000181163	7910	https://pubmed.ncbi.nlm.nih.gov/?term=NPM1	None	None	14166	3924
NPPA	natriuretic peptide A	Familial atrial fibrillation?0009740	https://raresource.nih.gov/literature/gene/NPPA	4878	ENSG00000175206	7939	https://pubmed.ncbi.nlm.nih.gov/?term=NPPA	None	None	2443	12190
NPR2	natriuretic peptide receptor 2	Acromesomelic dysplasia, Maroteaux type?0000507	https://raresource.nih.gov/literature/gene/NPR2	4882	ENSG00000159899	7944	https://pubmed.ncbi.nlm.nih.gov/?term=NPR2	None	None	7225	623
NPRL2	NPR2 like, GATOR1 complex subunit	Familial focal epilepsy with variable foci?0013295	https://raresource.nih.gov/literature/gene/NPRL2	10641	ENSG00000114388	24969	https://pubmed.ncbi.nlm.nih.gov/?term=NPRL2	None	None	1549	361
NPRL3	NPR3 like, GATOR1 complex subunit	Familial focal epilepsy with variable foci?0013295	https://raresource.nih.gov/literature/gene/NPRL3	8131	ENSG00000103148	14124	https://pubmed.ncbi.nlm.nih.gov/?term=NPRL3	None	None	18263	330
NR0B1	nuclear receptor subfamily 0 group B member 1	46,XX testicular disorder of sex development?0000399;X-linked adrenal hypoplasia congenita?0000555;46,XY complete gonadal dysgenesis?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	1450
NR1H4	nuclear receptor subfamily 1 group H member 4	Intrahepatic cholestasis of pregnancy?0009804	https://raresource.nih.gov/literature/gene/NR1H4	9971	ENSG00000012504	7967	https://pubmed.ncbi.nlm.nih.gov/?term=NR1H4	None	None	21287	4345
NR2E3	nuclear receptor subfamily 2 group E member 3	Retinitis pigmentosa?0005694;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	1082
NR3C1	nuclear receptor subfamily 3 group C member 1	Generalized glucocorticoid resistance syndrome?0002499	https://raresource.nih.gov/literature/gene/NR3C1	2908	ENSG00000113580	7978	https://pubmed.ncbi.nlm.nih.gov/?term=NR3C1	None	None	56120	20988
NR3C2	nuclear receptor subfamily 3 group C member 2	Renal 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	8612
NR5A1	nuclear receptor subfamily 5 group A member 1	46,XX testicular disorder of sex development?0000399;Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530;46,XY complete gonadal dysgenesis?0005068;46,XX gonadal dysgenesis?0005671	https://raresource.nih.gov/literature/gene/NR5A1	2516	ENSG00000136931	7983	https://pubmed.ncbi.nlm.nih.gov/?term=NR5A1	None	None	11798	3858
NRAS	NRAS proto-oncogene, GTPase	Juvenile myelomonocytic leukemia?0009884;Linear nevus sebaceus syndrome?0010291;Langerhans cell histiocytosis?0006858;Noonan syndrome?0010955;Thyroid cancer, nonmedullary, 2?0005206;Large congenital melanocytic nevus?0002469;Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/NRAS	4893	ENSG00000213281	7989	https://pubmed.ncbi.nlm.nih.gov/?term=NRAS	None	None	5830	21634
NRL	neural retina leucine zipper	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/NRL	4901	ENSG00000129535	8002	https://pubmed.ncbi.nlm.nih.gov/?term=NRL	None	None	6847	419
NRTN	neurturin	Hirschsprung disease?0006660	https://raresource.nih.gov/literature/gene/NRTN	4902	ENSG00000171119	8007	https://pubmed.ncbi.nlm.nih.gov/?term=NRTN	None	None	2697	484
NSD1	nuclear receptor binding SET domain protein 1	Weaver syndrome?0007878;Sotos syndrome?0010091	https://raresource.nih.gov/literature/gene/NSD1	64324	ENSG00000165671	14234	https://pubmed.ncbi.nlm.nih.gov/?term=NSD1	None	None	85223	537
NSD2	nuclear receptor binding SET domain protein 2	Wolf-Hirschhorn syndrome?0007896	https://raresource.nih.gov/literature/gene/NSD2	7468	ENSG00000109685	12766	https://pubmed.ncbi.nlm.nih.gov/?term=NSD2	None	None	49424	472
NSDHL	NAD(P) dependent steroid dehydrogenase-like	CHILD syndrome?0006039	https://raresource.nih.gov/literature/gene/NSDHL	50814	ENSG00000147383	13398	https://pubmed.ncbi.nlm.nih.gov/?term=NSDHL	None	None	6545	111
NSUN2	NOP2/Sun RNA methyltransferase 2	Dubowitz syndrome?0006290	https://raresource.nih.gov/literature/gene/NSUN2	54888	ENSG00000037474	25994	https://pubmed.ncbi.nlm.nih.gov/?term=NSUN2	None	None	15319	202
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	11175
NTN1	netrin 1	Familial congenital mirror movements?0012551	https://raresource.nih.gov/literature/gene/NTN1	9423	ENSG00000065320	8029	https://pubmed.ncbi.nlm.nih.gov/?term=NTN1	None	None	79871	1411
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	92
NTRK1	neurotrophic receptor tyrosine kinase 1	Hereditary sensory and autonomic neuropathy type 5?0012328;Hereditary sensory and autonomic neuropathy type 4?0003006;Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/NTRK1	4914	ENSG00000198400	8031	https://pubmed.ncbi.nlm.nih.gov/?term=NTRK1	None	None	23091	5765
NTRK2	neurotrophic receptor tyrosine kinase 2	Infantile spasms syndrome?0007887	https://raresource.nih.gov/literature/gene/NTRK2	4915	ENSG00000148053	8032	https://pubmed.ncbi.nlm.nih.gov/?term=NTRK2	None	None	127235	6139
NTRK3	neurotrophic receptor tyrosine kinase 3	Congenital mesoblastic nephroma?0001493;Differentiated thyroid carcinoma?0012027;Fibrosarcoma?0002327	https://raresource.nih.gov/literature/gene/NTRK3	4916	ENSG00000140538	8033	https://pubmed.ncbi.nlm.nih.gov/?term=NTRK3	None	None	143353	2037
NUBPL	NUBP iron-sulfur cluster assembly factor, mitochondrial	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/NUBPL	80224	ENSG00000151413	20278	https://pubmed.ncbi.nlm.nih.gov/?term=NUBPL	None	None	83683	43
NUMA1	nuclear mitotic apparatus protein 1	Acute promyelocytic leukemia?0000538	https://raresource.nih.gov/literature/gene/NUMA1	4926	ENSG00000137497	8059	https://pubmed.ncbi.nlm.nih.gov/?term=NUMA1	None	None	27300	676
NUP107	nucleoporin 107	Genetic steroid-resistant nephrotic syndrome?0003946;Galloway-Mowat syndrome?0000065;46,XX gonadal dysgenesis?0005671	https://raresource.nih.gov/literature/gene/NUP107	57122	ENSG00000111581	29914	https://pubmed.ncbi.nlm.nih.gov/?term=NUP107	None	None	14677	175
NUP133	nucleoporin 133	Genetic steroid-resistant nephrotic syndrome?0003946;Galloway-Mowat syndrome?0000065	https://raresource.nih.gov/literature/gene/NUP133	55746	ENSG00000069248	18016	https://pubmed.ncbi.nlm.nih.gov/?term=NUP133	None	None	27733	85
NUP155	nucleoporin 155	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	58
NUP160	nucleoporin 160	Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/NUP160	23279	ENSG00000030066	18017	https://pubmed.ncbi.nlm.nih.gov/?term=NUP160	None	None	30506	58
NUP205	nucleoporin 205	Genetic 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	56
NUP37	nucleoporin 37	Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/NUP37	79023	ENSG00000075188	29929	https://pubmed.ncbi.nlm.nih.gov/?term=NUP37	None	None	14447	307
NUP85	nucleoporin 85	Genetic steroid-resistant nephrotic syndrome?0003946;Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/NUP85	79902	ENSG00000125450	8734	https://pubmed.ncbi.nlm.nih.gov/?term=NUP85	None	None	13453	69
NUP88	nucleoporin 88	Fetal akinesia deformation sequence?0009634	https://raresource.nih.gov/literature/gene/NUP88	4927	ENSG00000108559	8067	https://pubmed.ncbi.nlm.nih.gov/?term=NUP88	None	None	12971	95
NUP93	nucleoporin 93	Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/NUP93	9688	ENSG00000102900	28958	https://pubmed.ncbi.nlm.nih.gov/?term=NUP93	None	None	30994	127
NUTM2A	NUT family member 2A	Endometrial stromal sarcoma?0006339	https://raresource.nih.gov/literature/gene/NUTM2A	728118	ENSG00000184923	23438	https://pubmed.ncbi.nlm.nih.gov/?term=NUTM2A	None	None	4343	48
NUTM2B	NUT family member 2B	Endometrial stromal sarcoma?0006339	https://raresource.nih.gov/literature/gene/NUTM2B	729262	ENSG00000188199	23445	https://pubmed.ncbi.nlm.nih.gov/?term=NUTM2B	None	None	4841	44
NYX	nyctalopin	Congenital stationary night blindness?0003995	https://raresource.nih.gov/literature/gene/NYX	60506	ENSG00000188937	8082	https://pubmed.ncbi.nlm.nih.gov/?term=NYX	None	None	7201	197
OAT	ornithine aminotransferase	Gyrate atrophy of choroid and retina?0006556	https://raresource.nih.gov/literature/gene/OAT	4942	ENSG00000065154	8091	https://pubmed.ncbi.nlm.nih.gov/?term=OAT	None	None	10837	1783
OBSL1	obscurin like cytoskeletal adaptor 1	3M syndrome?0005667	https://raresource.nih.gov/literature/gene/OBSL1	23363	ENSG00000124006	29092	https://pubmed.ncbi.nlm.nih.gov/?term=OBSL1	None	None	10030	73
OCA2	OCA2 melanosomal transmembrane protein	Oculocutaneous albinism type 2?0004038	https://raresource.nih.gov/literature/gene/OCA2	4948	ENSG00000104044	8101	https://pubmed.ncbi.nlm.nih.gov/?term=OCA2	None	None	82384	8753
OCLN	occludin	Congenital intrauterine infection-like syndrome?0012426	https://raresource.nih.gov/literature/gene/OCLN	100506658	ENSG00000197822	8104	https://pubmed.ncbi.nlm.nih.gov/?term=OCLN	None	None	22909	7713
OCRL	OCRL inositol polyphosphate-5-phosphatase	Oculocerebrorenal syndrome of Lowe?0003295	https://raresource.nih.gov/literature/gene/OCRL	4952	ENSG00000122126	8108	https://pubmed.ncbi.nlm.nih.gov/?term=OCRL	None	None	9234	3
ODAD1	outer dynein arm docking complex subunit 1	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	25
ODAD2	outer dynein arm docking complex subunit 2	Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/ODAD2	55130	ENSG00000169126	25583	https://pubmed.ncbi.nlm.nih.gov/?term=ODAD2	None	None	None	34
ODAD3	outer dynein arm docking complex subunit 3	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	22
ODAD4	outer dynein arm docking complex subunit 4	Primary ciliary dyskinesia?0004484	https://raresource.nih.gov/literature/gene/ODAD4	83538	ENSG00000204815	25280	https://pubmed.ncbi.nlm.nih.gov/?term=ODAD4	None	None	None	14
ODAPH	odontogenesis associated phosphoprotein	Hypomaturation amelogenesis imperfecta?0008349	https://raresource.nih.gov/literature/gene/ODAPH	152816	ENSG00000174792	26300	https://pubmed.ncbi.nlm.nih.gov/?term=ODAPH	None	None	5366	16
OFD1	OFD1 centriole and centriolar satellite protein	Primary ciliary dyskinesia?0004484;Retinitis pigmentosa?0005694;Orofaciodigital syndrome type 6?0004412;Orofaciodigital syndrome type 1?0004121	https://raresource.nih.gov/literature/gene/OFD1	8481	ENSG00000046651	2567	https://pubmed.ncbi.nlm.nih.gov/?term=OFD1	None	None	7242	190
OGDH	oxoglutarate dehydrogenase	Oxoglutaric aciduria?0000617	https://raresource.nih.gov/literature/gene/OGDH	4967	ENSG00000105953	8124	https://pubmed.ncbi.nlm.nih.gov/?term=OGDH	None	None	40381	367
OGG1	8-oxoguanine DNA glycosylase	Hereditary clear cell renal cell carcinoma?0009571	https://raresource.nih.gov/literature/gene/OGG1	4968	ENSG00000114026	8125	https://pubmed.ncbi.nlm.nih.gov/?term=OGG1	None	None	7582	2639
OPA1	OPA1 mitochondrial dynamin like GTPase	Autosomal dominant optic atrophy, classic form?0009890;Autosomal dominant optic atrophy plus syndrome?0005243	https://raresource.nih.gov/literature/gene/OPA1	4976	ENSG00000198836	8140	https://pubmed.ncbi.nlm.nih.gov/?term=OPA1	None	None	41669	1926
OPA3	outer mitochondrial membrane lipid metabolism regulator OPA3	Autosomal dominant optic atrophy and cataract?0010203;3-methylglutaconic aciduria type 3?0005663	https://raresource.nih.gov/literature/gene/OPA3	80207	ENSG00000125741	8142	https://pubmed.ncbi.nlm.nih.gov/?term=OPA3	None	None	20125	82
OPA6	Optic atrophy 6	Optic atrophy 6?0010200	https://raresource.nih.gov/literature/gene/OPA6	777778			https://pubmed.ncbi.nlm.nih.gov/?term=OPA6	None	None	None	6
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	125
OPN1LW	opsin 1, long wave sensitive	Blue 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	5207
OPN1MW	opsin 1, medium wave sensitive	Blue 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	393
OPTN	optineurin	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	Tubular aggregate myopathy?0003884;Combined immunodeficiency due to ORAI1 deficiency?0010524;Stormorken-Sjaastad-Langslet syndrome?0005188	https://raresource.nih.gov/literature/gene/ORAI1	84876	ENSG00000276045	25896	https://pubmed.ncbi.nlm.nih.gov/?term=ORAI1	None	None	6881	1829
ORC1	origin recognition complex subunit 1	Ear-patella-short stature syndrome?0002033	https://raresource.nih.gov/literature/gene/ORC1	4998	ENSG00000085840	8487	https://pubmed.ncbi.nlm.nih.gov/?term=ORC1	None	None	12836	379
ORC4	origin recognition complex subunit 4	Ear-patella-short stature syndrome?0002033	https://raresource.nih.gov/literature/gene/ORC4	5000	ENSG00000115947	8490	https://pubmed.ncbi.nlm.nih.gov/?term=ORC4	None	None	33896	98
ORC6	origin recognition complex subunit 6	Ear-patella-short stature syndrome?0002033	https://raresource.nih.gov/literature/gene/ORC6	23594	ENSG00000091651	17151	https://pubmed.ncbi.nlm.nih.gov/?term=ORC6	None	None	3893	110
OSGEP	O-sialoglycoprotein endopeptidase	Galloway-Mowat syndrome?0000065	https://raresource.nih.gov/literature/gene/OSGEP	55644	ENSG00000092094	18028	https://pubmed.ncbi.nlm.nih.gov/?term=OSGEP	None	None	3880	185
OSTM1	osteoclastogenesis associated transmembrane protein 1	Osteopetrosis, autosomal recessive 5?0004153;Infantile osteopetrosis with neuroaxonal dysplasia?0010082	https://raresource.nih.gov/literature/gene/OSTM1	28962	ENSG00000081087	21652	https://pubmed.ncbi.nlm.nih.gov/?term=OSTM1	None	None	18527	958
OTC	ornithine transcarbamylase	Ornithine transcarbamylase deficiency?0008391	https://raresource.nih.gov/literature/gene/OTC	5009	ENSG00000036473	8512	https://pubmed.ncbi.nlm.nih.gov/?term=OTC	None	None	10903	1717
OTULIN	OTU deubiquitinase with linear linkage specificity	Infantile-onset periodic fever-panniculitis-dermatosis syndrome?0013198	https://raresource.nih.gov/literature/gene/OTULIN	90268	ENSG00000154124	25118	https://pubmed.ncbi.nlm.nih.gov/?term=OTULIN	None	None	13949	131
OTX2	orthodenticle homeobox 2	Agnathia-holoprosencephaly-situs inversus syndrome?0009126;Colobomatous microphthalmia?0003644;Combined pituitary hormone deficiencies, genetic forms?0010602;Septo-optic dysplasia spectrum?0007627;Syndromic microphthalmia type 5?0003692	https://raresource.nih.gov/literature/gene/OTX2	5015	ENSG00000165588	8522	https://pubmed.ncbi.nlm.nih.gov/?term=OTX2	None	None	6051	1040
OXCT1	3-oxoacid CoA-transferase 1	Succinyl-CoA:3-oxoacid CoA transferase deficiency?0004774	https://raresource.nih.gov/literature/gene/OXCT1	5019	ENSG00000083720	8527	https://pubmed.ncbi.nlm.nih.gov/?term=OXCT1	None	None	50254	248
P2RX7	purinergic receptor P2X 7	B-cell chronic lymphocytic leukemia?0006104	https://raresource.nih.gov/literature/gene/P2RX7	5027	ENSG00000089041	8537	https://pubmed.ncbi.nlm.nih.gov/?term=P2RX7	None	None	20182	3378
P2RY11	purinergic receptor P2Y11	Narcolepsy type 1?0007162	https://raresource.nih.gov/literature/gene/P2RY11	5032	ENSG00000244165	8540	https://pubmed.ncbi.nlm.nih.gov/?term=P2RY11	None	None	252	128
P2RY12	purinergic receptor P2Y12	Bleeding disorder due to P2Y12 defect?0012478	https://raresource.nih.gov/literature/gene/P2RY12	64805	ENSG00000169313	18124	https://pubmed.ncbi.nlm.nih.gov/?term=P2RY12	None	None	618	3466
P3H1	prolyl 3-hydroxylase 1	Osteogenesis imperfecta, type viii?0010152;Osteogenesis imperfecta type 2?0010142;Osteogenesis imperfecta type 3?0008695	https://raresource.nih.gov/literature/gene/P3H1	64175	ENSG00000117385	19316	https://pubmed.ncbi.nlm.nih.gov/?term=P3H1	None	None	9795	144
P4HA2	prolyl 4-hydroxylase subunit alpha 2	Giant cell arteritis?0009615	https://raresource.nih.gov/literature/gene/P4HA2	8974	ENSG00000072682	8547	https://pubmed.ncbi.nlm.nih.gov/?term=P4HA2	None	None	23484	110
P4HB	prolyl 4-hydroxylase subunit beta	Cole-Carpenter syndrome?0001425;Osteogenesis imperfecta type 1?0008694	https://raresource.nih.gov/literature/gene/P4HB	5034	ENSG00000185624	8548	https://pubmed.ncbi.nlm.nih.gov/?term=P4HB	None	None	7431	223
PABPN1	poly(A) binding protein nuclear 1	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	374
PACS1	phosphofurin acidic cluster sorting protein 1	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome?0013043	https://raresource.nih.gov/literature/gene/PACS1	55690	ENSG00000175115	30032	https://pubmed.ncbi.nlm.nih.gov/?term=PACS1	None	None	66092	87
PADI3	peptidyl arginine deiminase 3	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	157
PAFAH1B1	platelet activating factor acetylhydrolase 1b regulatory subunit 1	Miller-Dieker syndrome?0003669;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	702
PAH	phenylalanine hydroxylase	Mild phenylketonuria?0010324;Maternal phenylketonuria?0003413	https://raresource.nih.gov/literature/gene/PAH	5053	ENSG00000171759	8582	https://pubmed.ncbi.nlm.nih.gov/?term=PAH	None	None	30338	50
PALB2	partner and localizer of BRCA2	Fanconi anemia?0006425;Familial pancreatic carcinoma?0004206	https://raresource.nih.gov/literature/gene/PALB2	79728	ENSG00000083093	26144	https://pubmed.ncbi.nlm.nih.gov/?term=PALB2	None	None	17272	1339
PALLD	palladin, cytoskeletal associated protein	Familial pancreatic carcinoma?0004206	https://raresource.nih.gov/literature/gene/PALLD	23022	ENSG00000129116	17068	https://pubmed.ncbi.nlm.nih.gov/?term=PALLD	None	None	157050	203
PARK3	Parkinson disease 3	Parkinson disease 3, autosomal dominant?0008578	https://raresource.nih.gov/literature/gene/PARK3	5072			https://pubmed.ncbi.nlm.nih.gov/?term=PARK3	None	None	None	23
PARK7	Parkinsonism associated deglycase	Parkinson-dementia complex of Guam?0009239	https://raresource.nih.gov/literature/gene/PARK7	11315	ENSG00000116288	16369	https://pubmed.ncbi.nlm.nih.gov/?term=PARK7	None	None	11956	2078
PARN	poly(A)-specific ribonuclease	Dyskeratosis congenita?0010905;Idiopathic pulmonary fibrosis?0008609;Hoyeraal-Hreidarsson syndrome?0000346	https://raresource.nih.gov/literature/gene/PARN	5073	ENSG00000140694	8609	https://pubmed.ncbi.nlm.nih.gov/?term=PARN	None	None	51849	325
PAX1	paired box 1	Otofaciocervical syndrome?0004169	https://raresource.nih.gov/literature/gene/PAX1	5075	ENSG00000125813	8615	https://pubmed.ncbi.nlm.nih.gov/?term=PAX1	None	None	5846	318
PAX2	paired box 2	Renal coloboma syndrome?0004106;Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/PAX2	5076	ENSG00000075891	8616	https://pubmed.ncbi.nlm.nih.gov/?term=PAX2	None	None	36601	1580
PAX3	paired box 3	Alveolar rhabdomyosarcoma?0004701;Waardenburg syndrome type 3?0005523;Craniofacial-deafness-hand syndrome?0001571;Waardenburg syndrome type 1?0005519	https://raresource.nih.gov/literature/gene/PAX3	5077	ENSG00000135903	8617	https://pubmed.ncbi.nlm.nih.gov/?term=PAX3	None	None	44086	2037
PAX4	paired box 4	MODY?0003697	https://raresource.nih.gov/literature/gene/PAX4	5078	ENSG00000106331	8618	https://pubmed.ncbi.nlm.nih.gov/?term=PAX4	None	None	4834	396
PAX6	paired box 6	Coloboma of macula?0001436;Isolated aniridia?0005816;Coloboma of optic disc?0001438;Isolated optic nerve hypoplasia/aplasia?0008419;Foveal hypoplasia-presenile cataract syndrome?0000406;WAGR syndrome?0005528;Coloboma of iris?0001434;Coloboma of eye lens?0001433;Aniridia-cerebellar ataxia-intellectual disability syndrome?0000013;Peters anomaly?0007377;Autosomal dominant keratitis?0003089;Morning glory disc anomaly?0013354	https://raresource.nih.gov/literature/gene/PAX6	5080	ENSG00000007372	8620	https://pubmed.ncbi.nlm.nih.gov/?term=PAX6	None	None	14878	3800
PAX7	paired box 7	Alveolar rhabdomyosarcoma?0004701	https://raresource.nih.gov/literature/gene/PAX7	5081	ENSG00000009709	8621	https://pubmed.ncbi.nlm.nih.gov/?term=PAX7	None	None	53079	1916
PAX8	paired box 8	Differentiated thyroid carcinoma?0012027;Thyroid hypoplasia?0008426	https://raresource.nih.gov/literature/gene/PAX8	7849	ENSG00000125618	8622	https://pubmed.ncbi.nlm.nih.gov/?term=PAX8	None	None	23706	2082
PCARE	photoreceptor cilium actin regulator	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/PCARE	388939	ENSG00000179270	34383	https://pubmed.ncbi.nlm.nih.gov/?term=PCARE	None	None	6813	33
PCBD1	pterin-4 alpha-carbinolamine dehydratase 1	Pterin-4 alpha-carbinolamine dehydratase deficiency?0002843	https://raresource.nih.gov/literature/gene/PCBD1	5092	ENSG00000166228	8646	https://pubmed.ncbi.nlm.nih.gov/?term=PCBD1	None	None	2751	415
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	150
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	170
PCDH15	protocadherin related 15	Usher syndrome type 1?0005435	https://raresource.nih.gov/literature/gene/PCDH15	65217	ENSG00000150275	14674	https://pubmed.ncbi.nlm.nih.gov/?term=PCDH15	None	None	398817	280
PCDH19	protocadherin 19	Dravet syndrome?0010430;Female restricted epilepsy with intellectual disability?0010806	https://raresource.nih.gov/literature/gene/PCDH19	57526	ENSG00000165194	14270	https://pubmed.ncbi.nlm.nih.gov/?term=PCDH19	None	None	21610	239
PCK1	phosphoenolpyruvate carboxykinase 1	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	2480
PCK2	phosphoenolpyruvate carboxykinase 2, mitochondrial	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	2647
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	117
PCM1	pericentriolar material 1	Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/PCM1	5108	ENSG00000078674	8727	https://pubmed.ncbi.nlm.nih.gov/?term=PCM1	None	None	57491	253
PCNT	pericentrin	Microcephalic osteodysplastic primordial dwarfism type II?0009844;Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/PCNT	5116	ENSG00000160299	16068	https://pubmed.ncbi.nlm.nih.gov/?term=PCNT	None	None	46185	419
PCSK9	proprotein convertase subtilisin/kexin type 9	Homozygous familial hypercholesterolemia?0010416	https://raresource.nih.gov/literature/gene/PCSK9	255738	ENSG00000169174	20001	https://pubmed.ncbi.nlm.nih.gov/?term=PCSK9	None	None	10609	5636
PCYT1A	phosphate cytidylyltransferase 1A, choline	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome?0010647;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/PCYT1A	5130	ENSG00000161217	8754	https://pubmed.ncbi.nlm.nih.gov/?term=PCYT1A	None	None	23188	3907
PDA1	Patent ductus arteriosus	Patent ductus arteriosus 1?0007342	https://raresource.nih.gov/literature/gene/PDA1	100996949			https://pubmed.ncbi.nlm.nih.gov/?term=PDA1	None	None	None	52
PDCD10	programmed cell death 10	Familial cerebral cavernous malformation?0013641	https://raresource.nih.gov/literature/gene/PDCD10	11235	ENSG00000114209	8761	https://pubmed.ncbi.nlm.nih.gov/?term=PDCD10	None	None	19801	396
PDE11A	phosphodiesterase 11A	Primary pigmented nodular adrenocortical disease?0010906	https://raresource.nih.gov/literature/gene/PDE11A	50940	ENSG00000128655	8773	https://pubmed.ncbi.nlm.nih.gov/?term=PDE11A	None	None	203383	145
PDE2A	phosphodiesterase 2A	Infantile convulsions and choreoathetosis?0008553	https://raresource.nih.gov/literature/gene/PDE2A	5138	ENSG00000186642	8777	https://pubmed.ncbi.nlm.nih.gov/?term=PDE2A	None	None	32890	232
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	419
PDE4D	phosphodiesterase 4D	Acrodysostosis?0005724	https://raresource.nih.gov/literature/gene/PDE4D	5144	ENSG00000113448	8783	https://pubmed.ncbi.nlm.nih.gov/?term=PDE4D	None	None	553371	815
PDE6A	phosphodiesterase 6A	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/PDE6A	5145	ENSG00000132915	8785	https://pubmed.ncbi.nlm.nih.gov/?term=PDE6A	None	None	37499	121
PDE6B	phosphodiesterase 6B	Retinitis pigmentosa?0005694;Congenital stationary night blindness?0003995	https://raresource.nih.gov/literature/gene/PDE6B	5158	ENSG00000133256	8786	https://pubmed.ncbi.nlm.nih.gov/?term=PDE6B	None	None	22943	467
PDE6C	phosphodiesterase 6C	Progressive cone dystrophy?0011897	https://raresource.nih.gov/literature/gene/PDE6C	5146	ENSG00000095464	8787	https://pubmed.ncbi.nlm.nih.gov/?term=PDE6C	None	None	22149	122
PDE6D	phosphodiesterase 6D	Orofaciodigital syndrome type 6?0004412	https://raresource.nih.gov/literature/gene/PDE6D	5147	ENSG00000156973	8788	https://pubmed.ncbi.nlm.nih.gov/?term=PDE6D	None	None	19278	70
PDE6G	phosphodiesterase 6G	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/PDE6G	5148	ENSG00000185527	8789	https://pubmed.ncbi.nlm.nih.gov/?term=PDE6G	None	None	4837	41
PDE6H	phosphodiesterase 6H	Retinal cone dystrophy 3a?0010648	https://raresource.nih.gov/literature/gene/PDE6H	5149	ENSG00000139053	8790	https://pubmed.ncbi.nlm.nih.gov/?term=PDE6H	None	None	3357	46
PDE8B	phosphodiesterase 8B	Primary pigmented nodular adrenocortical disease?0010906	https://raresource.nih.gov/literature/gene/PDE8B	8622	ENSG00000113231	8794	https://pubmed.ncbi.nlm.nih.gov/?term=PDE8B	None	None	76421	109
PDGFB	platelet derived growth factor subunit B	Dermatofibrosarcoma protuberans?0009569;Bilateral striopallidodentate calcinosis?0006406;Meningioma?0007015	https://raresource.nih.gov/literature/gene/PDGFB	5155	ENSG00000100311	8800	https://pubmed.ncbi.nlm.nih.gov/?term=PDGFB	None	None	8968	1651
PDGFRA	platelet derived growth factor receptor alpha	Gastrointestinal stromal tumor?0008598	https://raresource.nih.gov/literature/gene/PDGFRA	5156	ENSG00000134853	8803	https://pubmed.ncbi.nlm.nih.gov/?term=PDGFRA	None	None	33930	3568
PDGFRB	platelet derived growth factor receptor beta	Chronic myelomonocytic leukemia?0008225;Infantile myofibromatosis?0002998;Acroosteolysis-keloid-like lesions-premature aging syndrome?0004276;Bilateral striopallidodentate calcinosis?0006406	https://raresource.nih.gov/literature/gene/PDGFRB	5159	ENSG00000113721	8804	https://pubmed.ncbi.nlm.nih.gov/?term=PDGFRB	None	None	19281	6532
PDGFRL	platelet derived growth factor receptor like	Adult hepatocellular carcinoma?0006608	https://raresource.nih.gov/literature/gene/PDGFRL	5157	ENSG00000104213	8805	https://pubmed.ncbi.nlm.nih.gov/?term=PDGFRL	None	None	38569	34
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	550
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	1901
PDPN	podoplanin	1p36 deletion syndrome?0006082	https://raresource.nih.gov/literature/gene/PDPN	10630	ENSG00000162493	29602	https://pubmed.ncbi.nlm.nih.gov/?term=PDPN	None	None	15245	1028
PDX1	pancreatic and duodenal homeobox 1	Partial pancreatic agenesis?0004203;MODY?0003697;Isolated permanent neonatal diabetes mellitus?0010457	https://raresource.nih.gov/literature/gene/PDX1	3651	ENSG00000139515	6107	https://pubmed.ncbi.nlm.nih.gov/?term=PDX1	None	None	3241	3413
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	2352
PDZD7	PDZ domain containing 7	Usher syndrome type 2?0005440	https://raresource.nih.gov/literature/gene/PDZD7	79955	ENSG00000186862	26257	https://pubmed.ncbi.nlm.nih.gov/?term=PDZD7	None	None	11716	43
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	838
PER2	period circadian regulator 2	Familial advanced sleep-phase syndrome?0009242	https://raresource.nih.gov/literature/gene/PER2	8864	ENSG00000132326	8846	https://pubmed.ncbi.nlm.nih.gov/?term=PER2	None	None	19660	2292
PER3	period circadian regulator 3	Familial advanced sleep-phase syndrome?0009242	https://raresource.nih.gov/literature/gene/PER3	8863	ENSG00000049246	8847	https://pubmed.ncbi.nlm.nih.gov/?term=PER3	None	None	26673	660
PERP	p53 apoptosis effector related to PMP22	Mutilating palmoplantar keratoderma with periorificial keratotic plaques?0004075	https://raresource.nih.gov/literature/gene/PERP	64065	ENSG00000112378	17637	https://pubmed.ncbi.nlm.nih.gov/?term=PERP	None	None	7748	137
PET117	PET117 cytochrome c oxidase chaperone	Isolated cytochrome C oxidase deficiency?0000048	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	Infantile Refsum disease?0004648;Deafness-enamel hypoplasia-nail defects syndrome?0001687;Zellweger syndrome?0007917;Neonatal adrenoleukodystrophy?0000559	https://raresource.nih.gov/literature/gene/PEX1	5189	ENSG00000127980	8850	https://pubmed.ncbi.nlm.nih.gov/?term=PEX1	None	None	15512	207
PEX10	peroxisomal biogenesis factor 10	Zellweger syndrome?0007917;Infantile Refsum disease?0004648;Neonatal adrenoleukodystrophy?0000559	https://raresource.nih.gov/literature/gene/PEX10	5192	ENSG00000157911	8851	https://pubmed.ncbi.nlm.nih.gov/?term=PEX10	None	None	4641	126
PEX11B	peroxisomal biogenesis factor 11 beta	Infantile Refsum disease?0004648;Zellweger syndrome?0007917;Neonatal adrenoleukodystrophy?0000559	https://raresource.nih.gov/literature/gene/PEX11B	8799	ENSG00000131779	8853	https://pubmed.ncbi.nlm.nih.gov/?term=PEX11B	None	None	3643	39
PEX12	peroxisomal biogenesis factor 12	Zellweger syndrome?0007917;Infantile Refsum disease?0004648;Neonatal adrenoleukodystrophy?0000559	https://raresource.nih.gov/literature/gene/PEX12	5193	ENSG00000108733	8854	https://pubmed.ncbi.nlm.nih.gov/?term=PEX12	None	None	2228	60
PEX13	peroxisomal biogenesis factor 13	Infantile Refsum disease?0004648;Zellweger syndrome?0007917;Neonatal adrenoleukodystrophy?0000559	https://raresource.nih.gov/literature/gene/PEX13	5194	ENSG00000162928	8855	https://pubmed.ncbi.nlm.nih.gov/?term=PEX13	None	None	15025	12751
PEX14	peroxisomal biogenesis factor 14	Infantile Refsum disease?0004648;Zellweger syndrome?0007917;Neonatal adrenoleukodystrophy?0000559	https://raresource.nih.gov/literature/gene/PEX14	5195	ENSG00000142655	8856	https://pubmed.ncbi.nlm.nih.gov/?term=PEX14	None	None	61245	273
PEX16	peroxisomal biogenesis factor 16	Zellweger syndrome?0007917;Infantile Refsum disease?0004648;Neonatal adrenoleukodystrophy?0000559	https://raresource.nih.gov/literature/gene/PEX16	9409	ENSG00000121680	8857	https://pubmed.ncbi.nlm.nih.gov/?term=PEX16	None	None	4184	69
PEX19	peroxisomal biogenesis factor 19	Infantile Refsum disease?0004648;Zellweger syndrome?0007917;Neonatal adrenoleukodystrophy?0000559	https://raresource.nih.gov/literature/gene/PEX19	5824	ENSG00000162735	9713	https://pubmed.ncbi.nlm.nih.gov/?term=PEX19	None	None	4295	202
PEX2	peroxisomal biogenesis factor 2	Zellweger syndrome?0007917;Infantile Refsum disease?0004648;Neonatal adrenoleukodystrophy?0000559	https://raresource.nih.gov/literature/gene/PEX2	5828	ENSG00000164751	9717	https://pubmed.ncbi.nlm.nih.gov/?term=PEX2	None	None	9500	319
PEX26	peroxisomal biogenesis factor 26	Zellweger syndrome?0007917;Infantile Refsum disease?0004648;Neonatal adrenoleukodystrophy?0000559	https://raresource.nih.gov/literature/gene/PEX26	55670	ENSG00000215193	22965	https://pubmed.ncbi.nlm.nih.gov/?term=PEX26	None	None	9758	48
PEX3	peroxisomal biogenesis factor 3	Zellweger syndrome?0007917;Infantile Refsum disease?0004648;Neonatal adrenoleukodystrophy?0000559	https://raresource.nih.gov/literature/gene/PEX3	8504	ENSG00000034693	8858	https://pubmed.ncbi.nlm.nih.gov/?term=PEX3	None	None	14439	165
PEX5	peroxisomal biogenesis factor 5	Zellweger syndrome?0007917;Infantile Refsum disease?0004648;Neonatal adrenoleukodystrophy?0000559	https://raresource.nih.gov/literature/gene/PEX5	5830	ENSG00000139197	9719	https://pubmed.ncbi.nlm.nih.gov/?term=PEX5	None	None	12294	379
PEX6	peroxisomal biogenesis factor 6	Infantile Refsum disease?0004648;Neonatal adrenoleukodystrophy?0000559;Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome?0009971;Zellweger syndrome?0007917;Deafness-enamel hypoplasia-nail defects syndrome?0001687	https://raresource.nih.gov/literature/gene/PEX6	5190	ENSG00000124587	8859	https://pubmed.ncbi.nlm.nih.gov/?term=PEX6	None	None	8828	153
PEX7	peroxisomal biogenesis factor 7	Rhizomelic chondrodysplasia punctata type 1?0006049;Refsum disease?0005691	https://raresource.nih.gov/literature/gene/PEX7	5191	ENSG00000112357	8860	https://pubmed.ncbi.nlm.nih.gov/?term=PEX7	None	None	35691	363
PFHB2	Progressive familial heart block, type II	Progressive familial heart block, type ii?0004879	https://raresource.nih.gov/literature/gene/PFHB2	105463127			https://pubmed.ncbi.nlm.nih.gov/?term=PFHB2	None	None	None	4
PFKM	phosphofructokinase, muscle	Glycogen storage disease due to muscle phosphofructokinase deficiency?0005686	https://raresource.nih.gov/literature/gene/PFKM	5213	ENSG00000152556	8877	https://pubmed.ncbi.nlm.nih.gov/?term=PFKM	None	None	10384	963
PFN1	profilin 1	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	522
PGAM2	phosphoglycerate mutase 2	Glycogen storage disease due to phosphoglycerate mutase deficiency?0009964	https://raresource.nih.gov/literature/gene/PGAM2	5224	ENSG00000164708	8889	https://pubmed.ncbi.nlm.nih.gov/?term=PGAM2	None	None	2025	92
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	1149
PGM1	phosphoglucomutase 1	PGM1-CDG?0004329	https://raresource.nih.gov/literature/gene/PGM1	5236	ENSG00000079739	8905	https://pubmed.ncbi.nlm.nih.gov/?term=PGM1	None	None	25943	967
PGM3	phosphoglucomutase 3	PGM3-CDG?0004331	https://raresource.nih.gov/literature/gene/PGM3	5238	ENSG00000013375	8907	https://pubmed.ncbi.nlm.nih.gov/?term=PGM3	None	None	8881	262
PGRMC1	progesterone receptor membrane component 1	Total early-onset cataract?0001159	https://raresource.nih.gov/literature/gene/PGRMC1	10857	ENSG00000101856	16090	https://pubmed.ncbi.nlm.nih.gov/?term=PGRMC1	None	None	1950	874
PHACTR1	phosphatase and actin regulator 1	Infantile spasms syndrome?0007887	https://raresource.nih.gov/literature/gene/PHACTR1	221692	ENSG00000112137	20990	https://pubmed.ncbi.nlm.nih.gov/?term=PHACTR1	None	None	206877	131
PHC1	polyhomeotic homolog 1	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	117
PHEX	phosphate regulating endopeptidase homolog X-linked	X-linked hypophosphatemia?0012943	https://raresource.nih.gov/literature/gene/PHEX	5251	ENSG00000102174	8918	https://pubmed.ncbi.nlm.nih.gov/?term=PHEX	None	None	41017	1041
PHF21A	PHD finger protein 21A	Potocki-Shaffer syndrome?0009762	https://raresource.nih.gov/literature/gene/PHF21A	51317	ENSG00000135365	24156	https://pubmed.ncbi.nlm.nih.gov/?term=PHF21A	None	None	65726	51
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	282
PHF8	PHD finger protein 8	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	150
PHKA1	phosphorylase kinase regulatory subunit alpha 1	Glycogen storage disease due to muscle phosphorylase kinase deficiency?0003858	https://raresource.nih.gov/literature/gene/PHKA1	5255	ENSG00000067177	8925	https://pubmed.ncbi.nlm.nih.gov/?term=PHKA1	None	None	23193	52
PHKG1	phosphorylase kinase catalytic subunit gamma 1	Glycogen storage disease due to muscle phosphorylase kinase deficiency?0003858	https://raresource.nih.gov/literature/gene/PHKG1	5260	ENSG00000164776	8930	https://pubmed.ncbi.nlm.nih.gov/?term=PHKG1	None	None	5793	31
PHOX2A	paired like homeobox 2A	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	252
PHOX2B	paired like homeobox 2B	Neuroblastoma?0007185;Hirschsprung disease-ganglioneuroblastoma syndrome?0002695;Congenital central hypoventilation syndrome?0008535	https://raresource.nih.gov/literature/gene/PHOX2B	8929	ENSG00000109132	9143	https://pubmed.ncbi.nlm.nih.gov/?term=PHOX2B	None	None	5553	781
PHYH	phytanoyl-CoA 2-hydroxylase	Refsum disease?0005691	https://raresource.nih.gov/literature/gene/PHYH	5264	ENSG00000107537	8940	https://pubmed.ncbi.nlm.nih.gov/?term=PHYH	None	None	12393	367
PI4KA	phosphatidylinositol 4-kinase alpha	Bilateral perisylvian polymicrogyria?0006011	https://raresource.nih.gov/literature/gene/PI4KA	5297	ENSG00000241973	8983	https://pubmed.ncbi.nlm.nih.gov/?term=PI4KA	None	None	41439	95
PIBF1	progesterone immunomodulatory binding factor 1	Joubert syndrome?0006802	https://raresource.nih.gov/literature/gene/PIBF1	10464	ENSG00000083535	23352	https://pubmed.ncbi.nlm.nih.gov/?term=PIBF1	None	None	81265	177
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	391
PIEZO1	piezo type mechanosensitive ion channel component 1	Dehydrated hereditary stomatocytosis?0005623	https://raresource.nih.gov/literature/gene/PIEZO1	9780	ENSG00000103335	28993	https://pubmed.ncbi.nlm.nih.gov/?term=PIEZO1	None	None	30820	27596
PIEZO2	piezo type mechanosensitive ion channel component 2	Gordon syndrome?0002553;Marden-Walker syndrome?0006973;Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome?0004047	https://raresource.nih.gov/literature/gene/PIEZO2	63895	ENSG00000154864	26270	https://pubmed.ncbi.nlm.nih.gov/?term=PIEZO2	None	None	119796	392
PIGA	phosphatidylinositol glycan anchor biosynthesis class A	Paroxysmal nocturnal hemoglobinuria?0007337;Malignant migrating focal seizures of infancy?0012919;Infantile spasms syndrome?0007887;Multiple congenital anomalies-hypotonia-seizures syndrome type 2?0012777	https://raresource.nih.gov/literature/gene/PIGA	5277	ENSG00000165195	8957	https://pubmed.ncbi.nlm.nih.gov/?term=PIGA	None	None	3523	806
PIGG	phosphatidylinositol glycan anchor biosynthesis class G	Wolf-Hirschhorn syndrome?0007896	https://raresource.nih.gov/literature/gene/PIGG	54872	ENSG00000174227	25985	https://pubmed.ncbi.nlm.nih.gov/?term=PIGG	None	None	18117	491
PIGL	phosphatidylinositol glycan anchor biosynthesis class L	CHIME syndrome?0000310	https://raresource.nih.gov/literature/gene/PIGL	9487	ENSG00000108474	8966	https://pubmed.ncbi.nlm.nih.gov/?term=PIGL	None	None	34753	46
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	52
PIGN	phosphatidylinositol glycan anchor biosynthesis class N	Fryns syndrome?0003699;Multiple congenital anomalies-hypotonia-seizures syndrome?0012781	https://raresource.nih.gov/literature/gene/PIGN	23556	ENSG00000197563	8967	https://pubmed.ncbi.nlm.nih.gov/?term=PIGN	None	None	38095	103
PIGP	phosphatidylinositol glycan anchor biosynthesis class P	Early infantile epileptic encephalopathy?0009255	https://raresource.nih.gov/literature/gene/PIGP	51227	ENSG00000185808	3046	https://pubmed.ncbi.nlm.nih.gov/?term=PIGP	None	None	5040	90
PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	Early infantile epileptic encephalopathy?0009255	https://raresource.nih.gov/literature/gene/PIGQ	9091	ENSG00000007541	14135	https://pubmed.ncbi.nlm.nih.gov/?term=PIGQ	None	None	10061	62
PIGW	phosphatidylinositol glycan anchor biosynthesis class W	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency?0009965	https://raresource.nih.gov/literature/gene/PIGW	284098	ENSG00000277161	23213	https://pubmed.ncbi.nlm.nih.gov/?term=PIGW	None	None	2161	47
PIK3CA	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Megalencephaly-capillary malformation-polymicrogyria syndrome?0006950;Lynch syndrome?0009905;Adult hepatocellular carcinoma?0006608;Cowden syndrome?0006202;Meningioma?0007015;CLOVES syndrome?0010939;Hemimegalencephaly?0002637	https://raresource.nih.gov/literature/gene/PIK3CA	5290	ENSG00000121879	8975	https://pubmed.ncbi.nlm.nih.gov/?term=PIK3CA	None	None	38207	64241
PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	Activated PI3K-delta syndrome?0011983	https://raresource.nih.gov/literature/gene/PIK3CD	5293	ENSG00000171608	8977	https://pubmed.ncbi.nlm.nih.gov/?term=PIK3CD	None	None	37134	58547
PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	Activated PI3K-delta syndrome?0011983;SHORT syndrome?0007633;Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/PIK3R1	5295	ENSG00000145675	8979	https://pubmed.ncbi.nlm.nih.gov/?term=PIK3R1	None	None	40975	3047
PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	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	2085
PIK3R5	phosphoinositide-3-kinase regulatory subunit 5	Ataxia-oculomotor apraxia 3?0013112;Spinocerebellar ataxia with axonal neuropathy type 2?0012860	https://raresource.nih.gov/literature/gene/PIK3R5	23533	ENSG00000141506	30035	https://pubmed.ncbi.nlm.nih.gov/?term=PIK3R5	None	None	22071	126
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	62
PITX1	paired like homeodomain 1	Brachydactyly-elbow wrist dysplasia syndrome?0000966	https://raresource.nih.gov/literature/gene/PITX1	5307	ENSG00000069011	9004	https://pubmed.ncbi.nlm.nih.gov/?term=PITX1	None	None	4846	655
PITX2	paired like homeodomain 2	Ring dermoid of cornea?0009696;Familial atrial fibrillation?0009740;Axenfeld-Rieger syndrome?0005701;Peters anomaly?0007377;Anterior segment dysgenesis 4?0003026	https://raresource.nih.gov/literature/gene/PITX2	5308	ENSG00000164093	9005	https://pubmed.ncbi.nlm.nih.gov/?term=PITX2	None	None	10936	2295
PITX3	paired like homeodomain 3	Cataract-glaucoma syndrome?0001160	https://raresource.nih.gov/literature/gene/PITX3	5309	ENSG00000107859	9006	https://pubmed.ncbi.nlm.nih.gov/?term=PITX3	None	None	5468	2012
PKD1	polycystin 1, transient receptor potential channel interacting	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis?0009481;Autosomal dominant polycystic kidney disease?0010413	https://raresource.nih.gov/literature/gene/PKD1	5310	ENSG00000008710	9008	https://pubmed.ncbi.nlm.nih.gov/?term=PKD1	None	None	25233	3832
PKD1L1	polycystin 1 like 1, transient receptor potential channel interacting	Situs inversus totalis?0004883	https://raresource.nih.gov/literature/gene/PKD1L1	168507	ENSG00000158683	18053	https://pubmed.ncbi.nlm.nih.gov/?term=PKD1L1	None	None	64636	35
PKD2	polycystin 2, transient receptor potential cation channel	Autosomal dominant polycystic kidney disease?0010413	https://raresource.nih.gov/literature/gene/PKD2	5311	ENSG00000118762	9009	https://pubmed.ncbi.nlm.nih.gov/?term=PKD2	None	None	27851	2439
PKHD1	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	Polycystic kidney disease 4 with or without polycystic liver disease?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	432
PKLR	pyruvate kinase L/R	Hemolytic anemia due to red cell pyruvate kinase deficiency?0007514	https://raresource.nih.gov/literature/gene/PKLR	5313	ENSG00000143627	9020	https://pubmed.ncbi.nlm.nih.gov/?term=PKLR	None	None	6506	664
PKP1	plakophilin 1	Ectodermal dysplasia-skin fragility syndrome?0009705	https://raresource.nih.gov/literature/gene/PKP1	5317	ENSG00000081277	9023	https://pubmed.ncbi.nlm.nih.gov/?term=PKP1	None	None	20289	192
PKP2	plakophilin 2	Left ventricular noncompaction?0010985;Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/PKP2	5318	ENSG00000057294	9024	https://pubmed.ncbi.nlm.nih.gov/?term=PKP2	None	None	28105	454
PLA2G6	phospholipase A2 group VI	Infantile neuroaxonal dystrophy?0003957;Adult-onset dystonia-parkinsonism?0012568;Neurodegeneration with brain iron accumulation 2b?0010688	https://raresource.nih.gov/literature/gene/PLA2G6	8398	ENSG00000184381	9039	https://pubmed.ncbi.nlm.nih.gov/?term=PLA2G6	None	None	27471	5427
PLAGL1	PLAG1 like zinc finger 1	Transient neonatal diabetes mellitus?0001839	https://raresource.nih.gov/literature/gene/PLAGL1	5325	ENSG00000118495	9046	https://pubmed.ncbi.nlm.nih.gov/?term=PLAGL1	None	None	47261	361
PLAU	plasminogen activator, urokinase	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	8886
PLCB1	phospholipase C beta 1	Developmental and epileptic encephalopathy 12?0013318;Malignant migrating focal seizures of infancy?0012919;Infantile spasms syndrome?0007887	https://raresource.nih.gov/literature/gene/PLCB1	23236	ENSG00000182621	15917	https://pubmed.ncbi.nlm.nih.gov/?term=PLCB1	None	None	187074	1485
PLCB4	phospholipase C beta 4	Auriculocondylar syndrome?0009798	https://raresource.nih.gov/literature/gene/PLCB4	5332	ENSG00000101333	9059	https://pubmed.ncbi.nlm.nih.gov/?term=PLCB4	None	None	89402	1202
PLCD1	phospholipase C delta 1	Leukonychia totalis?0009759	https://raresource.nih.gov/literature/gene/PLCD1	5333	ENSG00000187091	9060	https://pubmed.ncbi.nlm.nih.gov/?term=PLCD1	None	None	9320	187
PLCE1	phospholipase C epsilon 1	Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/PLCE1	51196	ENSG00000138193	17175	https://pubmed.ncbi.nlm.nih.gov/?term=PLCE1	None	None	104021	368
PLEC	plectin	Aplasia cutis congenita?0005835;Epidermolysis bullosa simplex with muscular dystrophy?0002137;PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement?0002148	https://raresource.nih.gov/literature/gene/PLEC	5339	ENSG00000178209	9069	https://pubmed.ncbi.nlm.nih.gov/?term=PLEC	None	None	33530	1042
PLEKHG4	pleckstrin homology and RhoGEF domain containing G4	Spinocerebellar ataxia type 4?0009970	https://raresource.nih.gov/literature/gene/PLEKHG4	25894	ENSG00000196155	24501	https://pubmed.ncbi.nlm.nih.gov/?term=PLEKHG4	None	None	None	85
PLEKHM1	pleckstrin homology and RUN domain containing M1	Intermediate osteopetrosis?0004156	https://raresource.nih.gov/literature/gene/PLEKHM1	9842	ENSG00000225190	29017	https://pubmed.ncbi.nlm.nih.gov/?term=PLEKHM1	None	None	13945	970
PLEKHM2	pleckstrin homology and RUN domain containing M2	Left ventricular noncompaction?0010985	https://raresource.nih.gov/literature/gene/PLEKHM2	23207	ENSG00000116786	29131	https://pubmed.ncbi.nlm.nih.gov/?term=PLEKHM2	None	None	20975	204
PLG	plasminogen	Hypoplasminogenemia?0004380	https://raresource.nih.gov/literature/gene/PLG	5340	ENSG00000122194	9071	https://pubmed.ncbi.nlm.nih.gov/?term=PLG	None	None	22904	17279
PLK4	polo like kinase 4	Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/PLK4	10733	ENSG00000142731	11397	https://pubmed.ncbi.nlm.nih.gov/?term=PLK4	None	None	9542	702
PLN	phospholamban	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/PLN	5350	ENSG00000198523	9080	https://pubmed.ncbi.nlm.nih.gov/?term=PLN	None	None	117	2756
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	856
PLP1	proteolipid protein 1	Spastic paraplegia type 2?0004923	https://raresource.nih.gov/literature/gene/PLP1	5354	ENSG00000123560	9086	https://pubmed.ncbi.nlm.nih.gov/?term=PLP1	None	None	3247	2455
PLPBP	pyridoxal phosphate binding protein	Pyridoxine-dependent epilepsy?0009298	https://raresource.nih.gov/literature/gene/PLPBP	11212	ENSG00000147471	9457	https://pubmed.ncbi.nlm.nih.gov/?term=PLPBP	None	None	7954	39
PLXND1	plexin D1	Moebius syndrome?0008549	https://raresource.nih.gov/literature/gene/PLXND1	23129	ENSG00000004399	9107	https://pubmed.ncbi.nlm.nih.gov/?term=PLXND1	None	None	20332	136
PML	PML nuclear body scaffold	Acute promyelocytic leukemia?0000538	https://raresource.nih.gov/literature/gene/PML	5371	ENSG00000140464	9113	https://pubmed.ncbi.nlm.nih.gov/?term=PML	None	None	18139	3840
PMM2	phosphomannomutase 2	PMM2-CDG?0009826	https://raresource.nih.gov/literature/gene/PMM2	5373	ENSG00000140650	9115	https://pubmed.ncbi.nlm.nih.gov/?term=PMM2	None	None	23007	543
PMP22	peripheral myelin protein 22	Charcot-Marie-Tooth disease type 1A?0001245;Hereditary neuropathy with liability to pressure palsies?0005221;Dejerine-Sottas syndrome?0009204;Roussy-Lévy syndrome?0004741;Charcot-Marie-Tooth disease type 1E?0009190	https://raresource.nih.gov/literature/gene/PMP22	5376	ENSG00000109099	9118	https://pubmed.ncbi.nlm.nih.gov/?term=PMP22	None	None	9086	1455
PMPCA	peptidase, mitochondrial processing subunit alpha	Autosomal recessive cerebelloparenchymal disorder type 3?0001199	https://raresource.nih.gov/literature/gene/PMPCA	23203	ENSG00000165688	18667	https://pubmed.ncbi.nlm.nih.gov/?term=PMPCA	None	None	7407	214
PMS1	PMS1 homolog 1, mismatch repair system component	Lynch syndrome?0009905	https://raresource.nih.gov/literature/gene/PMS1	5378	ENSG00000064933	9121	https://pubmed.ncbi.nlm.nih.gov/?term=PMS1	None	None	34595	504
PMS2	PMS1 homolog 2, mismatch repair system component	Lynch syndrome?0009905	https://raresource.nih.gov/literature/gene/PMS2	5395	ENSG00000122512	9122	https://pubmed.ncbi.nlm.nih.gov/?term=PMS2	None	None	21047	2178
PMVK	phosphomevalonate kinase	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	159
PNKD	PNKD metallo-beta-lactamase domain containing	Paroxysmal non-kinesigenic dyskinesia?0008722	https://raresource.nih.gov/literature/gene/PNKD	25953	ENSG00000127838	9153	https://pubmed.ncbi.nlm.nih.gov/?term=PNKD	None	None	30453	2090
PNKP	polynucleotide kinase 3'-phosphatase	Ataxia-oculomotor apraxia type 4?0013111;Early infantile epileptic encephalopathy?0009255	https://raresource.nih.gov/literature/gene/PNKP	11284	ENSG00000039650	9154	https://pubmed.ncbi.nlm.nih.gov/?term=PNKP	None	None	3947	324
PNLDC1	PARN like ribonuclease domain containing exonuclease 1	Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/PNLDC1	154197	ENSG00000146453	21185	https://pubmed.ncbi.nlm.nih.gov/?term=PNLDC1	None	None	10434	23
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	5049
PNPLA1	patatin like phospholipase domain containing 1	Congenital non-bullous ichthyosiform erythroderma?0009736	https://raresource.nih.gov/literature/gene/PNPLA1	285848	ENSG00000180316	21246	https://pubmed.ncbi.nlm.nih.gov/?term=PNPLA1	None	None	27236	71
PNPLA2	patatin like phospholipase domain containing 2	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	3392
PNPLA6	patatin like phospholipase domain containing 6	Autosomal recessive spastic paraplegia type 39?0004924;Cerebellar ataxia-hypogonadism syndrome?0003314;Ataxia-hypogonadism-choroidal dystrophy syndrome?0000944;Laurence-Moon syndrome?0012635;Trichomegaly-retina pigmentary degeneration-dwarfism syndrome?0005266	https://raresource.nih.gov/literature/gene/PNPLA6	10908	ENSG00000032444	16268	https://pubmed.ncbi.nlm.nih.gov/?term=PNPLA6	None	None	10267	628
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	180
POC1B	POC1 centriolar protein B	Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/POC1B	282809	ENSG00000139323	30836	https://pubmed.ncbi.nlm.nih.gov/?term=POC1B	None	None	24050	39
POFUT1	protein O-fucosyltransferase 1	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	154
POGLUT1	protein O-glucosyltransferase 1	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	78
POLD1	DNA polymerase delta 1, catalytic subunit	Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome?0010989	https://raresource.nih.gov/literature/gene/POLD1	5424	ENSG00000062822	9175	https://pubmed.ncbi.nlm.nih.gov/?term=POLD1	None	None	19605	4169
POLE	DNA polymerase epsilon, catalytic subunit	IMAGe syndrome?0012312	https://raresource.nih.gov/literature/gene/POLE	5426	ENSG00000177084	9177	https://pubmed.ncbi.nlm.nih.gov/?term=POLE	None	None	27701	934
POLG	DNA polymerase gamma, catalytic subunit	Autosomal recessive progressive external ophthalmoplegia?0001191;Alpers-Huttenlocher syndrome?0005783;Mitochondrial neurogastrointestinal encephalomyopathy?0009920;Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome?0009998	https://raresource.nih.gov/literature/gene/POLG	5428	ENSG00000140521	9179	https://pubmed.ncbi.nlm.nih.gov/?term=POLG	None	None	9272	1015
POLH	DNA polymerase eta	Xeroderma pigmentosum variant?0005630	https://raresource.nih.gov/literature/gene/POLH	5429	ENSG00000170734	9181	https://pubmed.ncbi.nlm.nih.gov/?term=POLH	None	None	22833	585
POLR1A	RNA polymerase I subunit A	Burn-McKeown syndrome?0010041	https://raresource.nih.gov/literature/gene/POLR1A	25885	ENSG00000068654	17264	https://pubmed.ncbi.nlm.nih.gov/?term=POLR1A	None	None	33544	309
POLR1B	RNA polymerase I subunit B	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	255
POLR1C	RNA polymerase I and III subunit C	Treacher collins syndrome 3?0009125;Treacher-Collins syndrome?0009124	https://raresource.nih.gov/literature/gene/POLR1C	9533	ENSG00000171453	20194	https://pubmed.ncbi.nlm.nih.gov/?term=POLR1C	None	None	3257	109
POLR1D	RNA polymerase I and III subunit D	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	116
POLR3A	RNA polymerase III subunit A	Wiedemann-Rautenstrauch syndrome?0000330;Odontoleukodystrophy?0009632	https://raresource.nih.gov/literature/gene/POLR3A	11128	ENSG00000148606	30074	https://pubmed.ncbi.nlm.nih.gov/?term=POLR3A	None	None	24745	151
POLR3B	RNA polymerase III subunit B	Endosteal sclerosis-cerebellar hypoplasia syndrome?0001195	https://raresource.nih.gov/literature/gene/POLR3B	55703	ENSG00000013503	30348	https://pubmed.ncbi.nlm.nih.gov/?term=POLR3B	None	None	36748	95
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	37
POMC	proopiomelanocortin	Obesity due to pro-opiomelanocortin deficiency?0010823	https://raresource.nih.gov/literature/gene/POMC	5443	ENSG00000115138	9201	https://pubmed.ncbi.nlm.nih.gov/?term=POMC	None	None	3790	52455
POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	Retinitis pigmentosa?0005694;Muscle-eye-brain disease?0000156;Walker-Warburg syndrome?0002599	https://raresource.nih.gov/literature/gene/POMGNT1	55624	ENSG00000085998	19139	https://pubmed.ncbi.nlm.nih.gov/?term=POMGNT1	None	None	13776	171
POMGNT2	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	Walker-Warburg syndrome?0002599	https://raresource.nih.gov/literature/gene/POMGNT2	84892	ENSG00000144647	25902	https://pubmed.ncbi.nlm.nih.gov/?term=POMGNT2	None	None	10381	22
POMK	protein O-mannose kinase	Walker-Warburg syndrome?0002599	https://raresource.nih.gov/literature/gene/POMK	84197	ENSG00000185900	26267	https://pubmed.ncbi.nlm.nih.gov/?term=POMK	None	None	12961	26
POMT1	protein O-mannosyltransferase 1	Muscle-eye-brain disease?0000156;Walker-Warburg syndrome?0002599	https://raresource.nih.gov/literature/gene/POMT1	10585	ENSG00000130714	9202	https://pubmed.ncbi.nlm.nih.gov/?term=POMT1	None	None	10048	5545
POMT2	protein O-mannosyltransferase 2	Muscle-eye-brain disease?0000156;Walker-Warburg syndrome?0002599	https://raresource.nih.gov/literature/gene/POMT2	29954	ENSG00000009830	19743	https://pubmed.ncbi.nlm.nih.gov/?term=POMT2	None	None	11598	118
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	4523
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	500
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	258
POP1	POP1 homolog, ribonuclease P/MRP subunit	Anauxetic dysplasia?0009657	https://raresource.nih.gov/literature/gene/POP1	10940	ENSG00000104356	30129	https://pubmed.ncbi.nlm.nih.gov/?term=POP1	None	None	15998	96
POR	cytochrome p450 oxidoreductase	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	2418
PORCN	porcupine O-acyltransferase	Colobomatous microphthalmia?0003644;Focal dermal hypoplasia?0006457	https://raresource.nih.gov/literature/gene/PORCN	64840	ENSG00000102312	17652	https://pubmed.ncbi.nlm.nih.gov/?term=PORCN	None	None	2402	254
POROK4	Porokeratosis 4, disseminated superficial actinic	Porokeratosis 4, disseminated superficial actinic type?0009504	https://raresource.nih.gov/literature/gene/POROK4	353147			https://pubmed.ncbi.nlm.nih.gov/?term=POROK4	None	None	None	3
POT1	protection of telomeres 1	B-cell chronic lymphocytic leukemia?0006104;Anaplastic oligodendroglioma?0009472;Familial melanoma?0003460;Oligodendroglioma?0009953	https://raresource.nih.gov/literature/gene/POT1	25913	ENSG00000128513	17284	https://pubmed.ncbi.nlm.nih.gov/?term=POT1	None	None	37156	675
POU1F1	POU class 1 homeobox 1	Combined pituitary hormone deficiencies, genetic forms?0010602;Isolated growth hormone deficiency type II?0001696;Pituitary hormone deficiency, combined 1?0010601	https://raresource.nih.gov/literature/gene/POU1F1	5449	ENSG00000064835	9210	https://pubmed.ncbi.nlm.nih.gov/?term=POU1F1	None	None	8118	1516
POU2AF1	POU class 2 homeobox associating factor 1	Primary biliary cholangitis?0007459	https://raresource.nih.gov/literature/gene/POU2AF1	5450	ENSG00000110777	9211	https://pubmed.ncbi.nlm.nih.gov/?term=POU2AF1	None	None	32932	380
POU3F4	POU class 3 homeobox 4	Deafness, x-linked 2?0004504;Xq21 microdeletion syndrome?0000369	https://raresource.nih.gov/literature/gene/POU3F4	5456	ENSG00000196767	9217	https://pubmed.ncbi.nlm.nih.gov/?term=POU3F4	None	None	1981	215
POU6F2	POU class 6 homeobox 2	Nephroblastoma?0007892	https://raresource.nih.gov/literature/gene/POU6F2	11281	ENSG00000106536	21694	https://pubmed.ncbi.nlm.nih.gov/?term=POU6F2	None	None	173115	48
PPARG	peroxisome proliferator activated receptor gamma	PPARG-related familial partial lipodystrophy?0012600;Gliosarcoma?0005653;Congenital generalized lipodystrophy?0013388;Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/PPARG	5468	ENSG00000132170	9236	https://pubmed.ncbi.nlm.nih.gov/?term=PPARG	None	None	60716	13702
PPARGC1A	PPARG coactivator 1 alpha	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/PPARGC1A	10891	ENSG00000109819	9237	https://pubmed.ncbi.nlm.nih.gov/?term=PPARGC1A	None	None	51421	4749
PPCS	phosphopantothenoylcysteine synthetase	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/PPCS	79717	ENSG00000127125	25686	https://pubmed.ncbi.nlm.nih.gov/?term=PPCS	None	None	1987	33
PPIB	peptidylprolyl isomerase B	Osteogenesis imperfecta type 2?0010142;Osteogenesis imperfecta type 4?0008696;Osteogenesis imperfecta, type ix?0010619;Osteogenesis imperfecta type 3?0008695	https://raresource.nih.gov/literature/gene/PPIB	5479	ENSG00000166794	9255	https://pubmed.ncbi.nlm.nih.gov/?term=PPIB	None	None	2663	379
PPOX	protoporphyrinogen oxidase	Porphyria variegata?0007848	https://raresource.nih.gov/literature/gene/PPOX	5498	ENSG00000143224	9280	https://pubmed.ncbi.nlm.nih.gov/?term=PPOX	None	None	2988	3670
PPP1CB	protein phosphatase 1 catalytic subunit beta	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	1776
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	169
PPP3CA	protein phosphatase 3 catalytic subunit alpha	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/PPP3CA	5530	ENSG00000138814	9314	https://pubmed.ncbi.nlm.nih.gov/?term=PPP3CA	None	None	117284	751
PPT1	palmitoyl-protein thioesterase 1	CLN1 disease?0001219	https://raresource.nih.gov/literature/gene/PPT1	5538	ENSG00000131238	9325	https://pubmed.ncbi.nlm.nih.gov/?term=PPT1	None	None	10585	926
PRCD	photoreceptor disc component	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/PRCD	768206	ENSG00000214140	32528	https://pubmed.ncbi.nlm.nih.gov/?term=PRCD	None	None	137	42
PRDM16	PR/SET domain 16	Familial isolated dilated cardiomyopathy?0002905;Left ventricular noncompaction?0010985;1p36 deletion syndrome?0006082	https://raresource.nih.gov/literature/gene/PRDM16	63976	ENSG00000142611	14000	https://pubmed.ncbi.nlm.nih.gov/?term=PRDM16	None	None	165392	874
PRDM5	PR/SET domain 5	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	88
PRF1	perforin 1	Familial hemophagocytic lymphohistiocytosis?0006589;Idiopathic aplastic anemia?0005836	https://raresource.nih.gov/literature/gene/PRF1	5551	ENSG00000180644	9360	https://pubmed.ncbi.nlm.nih.gov/?term=PRF1	None	None	3228	3695
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	10
PRICKLE1	prickle planar cell polarity protein 1	Progressive myoclonic epilepsy type 1?0003876	https://raresource.nih.gov/literature/gene/PRICKLE1	144165	ENSG00000139174	17019	https://pubmed.ncbi.nlm.nih.gov/?term=PRICKLE1	None	None	33138	254
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	73
PRKACA	protein kinase cAMP-activated catalytic subunit alpha	Primary pigmented nodular adrenocortical disease?0010906	https://raresource.nih.gov/literature/gene/PRKACA	5566	ENSG00000072062	9380	https://pubmed.ncbi.nlm.nih.gov/?term=PRKACA	None	None	10902	427
PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease?0010728	https://raresource.nih.gov/literature/gene/PRKAG2	51422	ENSG00000106617	9386	https://pubmed.ncbi.nlm.nih.gov/?term=PRKAG2	None	None	120833	237
PRKAR1A	protein kinase cAMP-dependent type I regulatory subunit alpha	Acute promyelocytic leukemia?0000538;Carney complex?0001119;Acrodysostosis?0005724;Familial atrial myxoma?0000139;Primary pigmented nodular adrenocortical disease?0010906	https://raresource.nih.gov/literature/gene/PRKAR1A	5573	ENSG00000108946	9388	https://pubmed.ncbi.nlm.nih.gov/?term=PRKAR1A	None	None	8496	11461
PRKCD	protein kinase C delta	Autoimmune lymphoproliferative syndrome?0008686;Common variable immunodeficiency?0006140	https://raresource.nih.gov/literature/gene/PRKCD	5580	ENSG00000163932	9399	https://pubmed.ncbi.nlm.nih.gov/?term=PRKCD	None	None	13384	1000
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	748
PRKCSH	protein kinase C substrate 80K-H	Isolated polycystic liver disease?0009457	https://raresource.nih.gov/literature/gene/PRKCSH	5589	ENSG00000130175	9411	https://pubmed.ncbi.nlm.nih.gov/?term=PRKCSH	None	None	5403	162
PRKCZ	protein kinase C zeta	1p36 deletion syndrome?0006082	https://raresource.nih.gov/literature/gene/PRKCZ	5590	ENSG00000067606	9412	https://pubmed.ncbi.nlm.nih.gov/?term=PRKCZ	None	None	63676	972
PRKG1	protein kinase cGMP-dependent 1	Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/PRKG1	5592	ENSG00000185532	9414	https://pubmed.ncbi.nlm.nih.gov/?term=PRKG1	None	None	477384	46
PRKN	parkin RBR E3 ubiquitin protein ligase	Parkinson disease 2, autosomal recessive juvenile?0009642	https://raresource.nih.gov/literature/gene/PRKN	5071	ENSG00000185345	8607	https://pubmed.ncbi.nlm.nih.gov/?term=PRKN	None	None	546420	1217
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	382
PRNP	prion protein	Kuru?0007617;Gerstmann-Straussler-Scheinker syndrome?0007690;Fatal familial insomnia?0006429	https://raresource.nih.gov/literature/gene/PRNP	5621	ENSG00000171867	9449	https://pubmed.ncbi.nlm.nih.gov/?term=PRNP	None	None	4247	10229
PROC	protein C, inactivator of coagulation factors Va and VIIIa	Thrombophilia due to protein c deficiency, autosomal recessive?0013041	https://raresource.nih.gov/literature/gene/PROC	5624	ENSG00000115718	9451	https://pubmed.ncbi.nlm.nih.gov/?term=PROC	None	None	5502	15042
PRODH	proline dehydrogenase 1	Hyperprolinemia type 1?0002847	https://raresource.nih.gov/literature/gene/PRODH	5625	ENSG00000100033	9453	https://pubmed.ncbi.nlm.nih.gov/?term=PRODH	None	None	2709	1145
PROK2	prokineticin 2	Hypogonadotropic hypogonadism 4 with or without anosmia?0010772;Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/PROK2	60675	ENSG00000163421	18455	https://pubmed.ncbi.nlm.nih.gov/?term=PROK2	None	None	6480	519
PROKR2	prokineticin receptor 2	Hypogonadotropic hypogonadism 3 with or without anosmia?0003073;Pituitary stalk interruption syndrome?0013209;Septo-optic dysplasia spectrum?0007627;Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/PROKR2	128674	ENSG00000101292	15836	https://pubmed.ncbi.nlm.nih.gov/?term=PROKR2	None	None	4398	363
PROM1	prominin 1	Stargardt disease?0000181;Retinitis pigmentosa?0005694;Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/PROM1	8842	ENSG00000007062	9454	https://pubmed.ncbi.nlm.nih.gov/?term=PROM1	None	None	46343	7016
PROP1	PROP paired-like homeobox 1	Combined pituitary hormone deficiencies, genetic forms?0010602	https://raresource.nih.gov/literature/gene/PROP1	5626	ENSG00000175325	9455	https://pubmed.ncbi.nlm.nih.gov/?term=PROP1	None	None	3220	383
PRPF3	pre-mRNA processing factor 3	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/PRPF3	9129	ENSG00000117360	17348	https://pubmed.ncbi.nlm.nih.gov/?term=PRPF3	None	None	16320	100
PRPF31	pre-mRNA processing factor 31	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/PRPF31	26121	ENSG00000105618	15446	https://pubmed.ncbi.nlm.nih.gov/?term=PRPF31	None	None	5992	249
PRPF4	pre-mRNA processing factor 4	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/PRPF4	9128	ENSG00000136875	17349	https://pubmed.ncbi.nlm.nih.gov/?term=PRPF4	None	None	7588	86
PRPF6	pre-mRNA processing factor 6	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/PRPF6	24148	ENSG00000101161	15860	https://pubmed.ncbi.nlm.nih.gov/?term=PRPF6	None	None	16354	684
PRPF8	pre-mRNA processing factor 8	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/PRPF8	10594	ENSG00000174231	17340	https://pubmed.ncbi.nlm.nih.gov/?term=PRPF8	None	None	12333	432
PRPH	peripherin	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/PRPH	5630	ENSG00000135406	9461	https://pubmed.ncbi.nlm.nih.gov/?term=PRPH	None	None	3720	89
PRPH2	peripherin 2	Retinitis pigmentosa?0005694;Stargardt disease?0000181;Adult-onset foveomacular vitelliform dystrophy?0010909;Central areolar choroidal dystrophy?0010049;Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/PRPH2	5961	ENSG00000112619	9942	https://pubmed.ncbi.nlm.nih.gov/?term=PRPH2	None	None	13628	1043
PRPS1	phosphoribosyl pyrophosphate synthetase 1	Lethal ataxia with deafness and optic atrophy?0008756	https://raresource.nih.gov/literature/gene/PRPS1	5631	ENSG00000147224	9462	https://pubmed.ncbi.nlm.nih.gov/?term=PRPS1	None	None	4399	264
PRRT2	proline rich transmembrane protein 2	Paroxysmal exertion-induced dyskinesia?0010541;Paroxysmal non-kinesigenic dyskinesia?0008722;Familial or sporadic hemiplegic migraine?0010768;Infantile convulsions and choreoathetosis?0008553;Benign familial infantile epilepsy?0000857;Paroxysmal kinesigenic dyskinesia?0008721	https://raresource.nih.gov/literature/gene/PRRT2	112476	ENSG00000167371	30500	https://pubmed.ncbi.nlm.nih.gov/?term=PRRT2	None	None	2154	27926
PRRX1	paired related homeobox 1	Agnathia-holoprosencephaly-situs inversus syndrome?0009126	https://raresource.nih.gov/literature/gene/PRRX1	5396	ENSG00000116132	9142	https://pubmed.ncbi.nlm.nih.gov/?term=PRRX1	None	None	31455	818
PRSS1	serine protease 1	Hereditary chronic pancreatitis?0006632	https://raresource.nih.gov/literature/gene/PRSS1	5644	ENSG00000204983	9475	https://pubmed.ncbi.nlm.nih.gov/?term=PRSS1	None	None	5211	1095
PRSS2	serine protease 2	Hereditary chronic pancreatitis?0006632	https://raresource.nih.gov/literature/gene/PRSS2	5645	ENSG00000275896	9483	https://pubmed.ncbi.nlm.nih.gov/?term=PRSS2	None	None	11747	264
PRTN3	proteinase 3	Granulomatosis with polyangiitis?0007880	https://raresource.nih.gov/literature/gene/PRTN3	5657	ENSG00000196415	9495	https://pubmed.ncbi.nlm.nih.gov/?term=PRTN3	None	None	5404	4906
PRX	periaxin	Dejerine-Sottas syndrome?0009204	https://raresource.nih.gov/literature/gene/PRX	57716	ENSG00000105227	13797	https://pubmed.ncbi.nlm.nih.gov/?term=PRX	None	None	8489	1485
PSAT1	phosphoserine aminotransferase 1	Phosphoserine aminotransferase deficiency, infantile/juvenile form?0013273	https://raresource.nih.gov/literature/gene/PSAT1	29968	ENSG00000135069	19129	https://pubmed.ncbi.nlm.nih.gov/?term=PSAT1	None	None	14854	13341
PSEN1	presenilin 1	Familial isolated dilated cardiomyopathy?0002905;Progressive non-fluent aphasia?0010793;Behavioral variant of frontotemporal dementia?0007392;Early-onset autosomal dominant Alzheimer disease?0012798;Semantic dementia?0010792	https://raresource.nih.gov/literature/gene/PSEN1	5663	ENSG00000080815	9508	https://pubmed.ncbi.nlm.nih.gov/?term=PSEN1	None	None	24925	29
PSEN2	presenilin 2	Familial isolated dilated cardiomyopathy?0002905;Early-onset autosomal dominant Alzheimer disease?0012798	https://raresource.nih.gov/literature/gene/PSEN2	5664	ENSG00000143801	9509	https://pubmed.ncbi.nlm.nih.gov/?term=PSEN2	None	None	10521	2540
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	398
PSMB8	proteasome 20S subunit beta 8	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	766
PSMC3IP	PSMC3 interacting protein	46,XX gonadal dysgenesis?0005671	https://raresource.nih.gov/literature/gene/PSMC3IP	29893	ENSG00000131470	17928	https://pubmed.ncbi.nlm.nih.gov/?term=PSMC3IP	None	None	2254	102
PSTPIP1	proline-serine-threonine phosphatase interacting protein 1	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome?0009176	https://raresource.nih.gov/literature/gene/PSTPIP1	9051	ENSG00000140368	9580	https://pubmed.ncbi.nlm.nih.gov/?term=PSTPIP1	None	None	13062	187
PTCH1	patched 1	Schilbach-Rott syndrome?0002930;Gorlin syndrome?0007166	https://raresource.nih.gov/literature/gene/PTCH1	5727	ENSG00000185920	9585	https://pubmed.ncbi.nlm.nih.gov/?term=PTCH1	None	None	39075	3593
PTCH2	patched 2	Gorlin syndrome?0007166	https://raresource.nih.gov/literature/gene/PTCH2	8643	ENSG00000117425	9586	https://pubmed.ncbi.nlm.nih.gov/?term=PTCH2	None	None	12795	262
PTDSS1	phosphatidylserine synthase 1	Lenz-Majewski hyperostotic dwarfism?0003223	https://raresource.nih.gov/literature/gene/PTDSS1	9791	ENSG00000156471	9587	https://pubmed.ncbi.nlm.nih.gov/?term=PTDSS1	None	None	27357	123
PTEN	phosphatase and tensin homolog	Lhermitte-Duclos disease?0006901;Cowden syndrome?0006202;Proteus-like syndrome?0012801;Bilateral frontoparietal polymicrogyria?0010784;Bannayan-Riley-Ruvalcaba syndrome?0005887;Proteus syndrome?0007475;Activated PI3K-delta syndrome?0011983	https://raresource.nih.gov/literature/gene/PTEN	5728	ENSG00000171862	9588	https://pubmed.ncbi.nlm.nih.gov/?term=PTEN	None	None	49825	24349
PTF1A	pancreas associated transcription factor 1a	Partial pancreatic agenesis?0004203	https://raresource.nih.gov/literature/gene/PTF1A	256297	ENSG00000168267	23734	https://pubmed.ncbi.nlm.nih.gov/?term=PTF1A	None	None	2570	820
PTH1R	parathyroid hormone 1 receptor	Metaphyseal chondrodysplasia, Jansen type?0000079;Ollier disease?0007251;Blomstrand lethal chondrodysplasia?0000914	https://raresource.nih.gov/literature/gene/PTH1R	5745	ENSG00000160801	9608	https://pubmed.ncbi.nlm.nih.gov/?term=PTH1R	None	None	10699	999
PTHLH	parathyroid hormone like hormone	Brachydactyly type E?0000987	https://raresource.nih.gov/literature/gene/PTHLH	5744	ENSG00000087494	9607	https://pubmed.ncbi.nlm.nih.gov/?term=PTHLH	None	None	5854	5969
PTPN11	protein tyrosine phosphatase non-receptor type 11	Noonan syndrome with multiple lentigines?0001100;Juvenile myelomonocytic leukemia?0009884;Metachondromatosis?0003560;Noonan syndrome?0010955	https://raresource.nih.gov/literature/gene/PTPN11	5781	ENSG00000179295	9644	https://pubmed.ncbi.nlm.nih.gov/?term=PTPN11	None	None	30180	6011
PTPN2	protein tyrosine phosphatase non-receptor type 2	Oligoarticular juvenile idiopathic arthritis?0004261;Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis?0003931	https://raresource.nih.gov/literature/gene/PTPN2	5771	ENSG00000175354	9650	https://pubmed.ncbi.nlm.nih.gov/?term=PTPN2	None	None	37455	704
PTPN22	protein tyrosine phosphatase non-receptor type 22	Oligoarticular juvenile idiopathic arthritis?0004261;Vogt-Koyanagi-Harada disease?0007862;Giant cell arteritis?0009615;Granulomatosis with polyangiitis?0007880;Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis?0003931	https://raresource.nih.gov/literature/gene/PTPN22	26191	ENSG00000134242	9652	https://pubmed.ncbi.nlm.nih.gov/?term=PTPN22	None	None	21696	2049
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	112
PTPRF	protein tyrosine phosphatase receptor type F	Isolated congenital breast hypoplasia/aplasia?0009489	https://raresource.nih.gov/literature/gene/PTPRF	5792	ENSG00000142949	9670	https://pubmed.ncbi.nlm.nih.gov/?term=PTPRF	None	None	41640	577
PTPRO	protein tyrosine phosphatase receptor type O	Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/PTPRO	5800	ENSG00000151490	9678	https://pubmed.ncbi.nlm.nih.gov/?term=PTPRO	None	None	67189	217
PTS	6-pyruvoyltetrahydropterin synthase	6-pyruvoyl-tetrahydropterin synthase deficiency?0005682	https://raresource.nih.gov/literature/gene/PTS	5805	ENSG00000150787	9689	https://pubmed.ncbi.nlm.nih.gov/?term=PTS	None	None	7566	1640
PUF60	poly(U) binding splicing factor 60	8q24.3 microdeletion syndrome?0012814	https://raresource.nih.gov/literature/gene/PUF60	22827	ENSG00000179950	17042	https://pubmed.ncbi.nlm.nih.gov/?term=PUF60	None	None	6869	139
PUS1	pseudouridine synthase 1	Mitochondrial myopathy and sideroblastic anemia?0003885	https://raresource.nih.gov/literature/gene/PUS1	80324	ENSG00000177192	15508	https://pubmed.ncbi.nlm.nih.gov/?term=PUS1	None	None	6065	80
PYCR1	pyrroline-5-carboxylate reductase 1	Autosomal recessive cutis laxa type 2B?0001641;Geroderma osteodysplastica?0000413	https://raresource.nih.gov/literature/gene/PYCR1	5831	ENSG00000183010	9721	https://pubmed.ncbi.nlm.nih.gov/?term=PYCR1	None	None	2742	318
PYCR2	pyrroline-5-carboxylate reductase 2	Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/PYCR2	29920	ENSG00000143811	30262	https://pubmed.ncbi.nlm.nih.gov/?term=PYCR2	None	None	224	46
PYGL	glycogen phosphorylase L	Glycogen storage disease due to liver glycogen phosphorylase deficiency?0006529	https://raresource.nih.gov/literature/gene/PYGL	5836	ENSG00000100504	9725	https://pubmed.ncbi.nlm.nih.gov/?term=PYGL	None	None	25436	139
PYGM	glycogen phosphorylase, muscle associated	Glycogen storage disease due to muscle glycogen phosphorylase deficiency?0006528	https://raresource.nih.gov/literature/gene/PYGM	5837	ENSG00000068976	9726	https://pubmed.ncbi.nlm.nih.gov/?term=PYGM	None	None	6763	477
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	3481
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	541
RAB18	RAB18, member RAS oncogene family	Micro syndrome?0005534	https://raresource.nih.gov/literature/gene/RAB18	22931	ENSG00000099246	14244	https://pubmed.ncbi.nlm.nih.gov/?term=RAB18	None	None	15623	271
RAB23	RAB23, member RAS oncogene family	Carpenter syndrome?0006003	https://raresource.nih.gov/literature/gene/RAB23	51715	ENSG00000112210	14263	https://pubmed.ncbi.nlm.nih.gov/?term=RAB23	None	None	13658	133
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	1156
RAB28	RAB28, member RAS oncogene family	Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/RAB28	9364	ENSG00000157869	9768	https://pubmed.ncbi.nlm.nih.gov/?term=RAB28	None	None	45585	42
RAB33B	RAB33B, member RAS oncogene family	Smith-McCort dysplasia?0010620	https://raresource.nih.gov/literature/gene/RAB33B	83452	ENSG00000172007	16075	https://pubmed.ncbi.nlm.nih.gov/?term=RAB33B	None	None	10320	164
RAB39B	RAB39B, member RAS oncogene family	Early-onset parkinsonism-intellectual disability syndrome?0003203	https://raresource.nih.gov/literature/gene/RAB39B	116442	ENSG00000155961	16499	https://pubmed.ncbi.nlm.nih.gov/?term=RAB39B	None	None	1965	80
RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	Cataract-intellectual disability-hypogonadism syndrome?0003406;Micro syndrome?0005534	https://raresource.nih.gov/literature/gene/RAB3GAP1	22930	ENSG00000115839	17063	https://pubmed.ncbi.nlm.nih.gov/?term=RAB3GAP1	None	None	46924	1465
RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	Cataract-intellectual disability-hypogonadism syndrome?0003406;Micro syndrome?0005534	https://raresource.nih.gov/literature/gene/RAB3GAP2	25782	ENSG00000118873	17168	https://pubmed.ncbi.nlm.nih.gov/?term=RAB3GAP2	None	None	44804	447
RAB7A	RAB7A, member RAS oncogene family	Autosomal dominant 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	1675
RABL3	RAB, member of RAS oncogene family like 3	Familial pancreatic carcinoma?0004206	https://raresource.nih.gov/literature/gene/RABL3	285282	ENSG00000144840	18072	https://pubmed.ncbi.nlm.nih.gov/?term=RABL3	None	None	19505	16
RAD21	RAD21 cohesin complex component	Cornelia 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	898
RAD51	RAD51 recombinase	Fanconi anemia?0006425;Familial congenital mirror movements?0012551	https://raresource.nih.gov/literature/gene/RAD51	5888	ENSG00000051180	9817	https://pubmed.ncbi.nlm.nih.gov/?term=RAD51	None	None	14361	10920
RAD51C	RAD51 paralog C	Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/RAD51C	5889	ENSG00000108384	9820	https://pubmed.ncbi.nlm.nih.gov/?term=RAD51C	None	None	16114	631
RAD51D	RAD51 paralog D	Familial prostate cancer?0004520	https://raresource.nih.gov/literature/gene/RAD51D	5892	ENSG00000185379	9823	https://pubmed.ncbi.nlm.nih.gov/?term=RAD51D	None	None	7691	482
RAF1	Raf-1 proto-oncogene, serine/threonine kinase	Familial isolated dilated cardiomyopathy?0002905;Noonan syndrome with multiple lentigines?0001100;Noonan syndrome?0010955	https://raresource.nih.gov/literature/gene/RAF1	5894	ENSG00000132155	9829	https://pubmed.ncbi.nlm.nih.gov/?term=RAF1	None	None	42559	5763
RAG1	recombination activating 1	Combined immunodeficiency due to partial RAG1 deficiency?0013712;Combined immunodeficiency with granulomatosis?0013587;Omenn syndrome?0008198;Severe combined immunodeficiency due to complete RAG1/2 deficiency?0010339	https://raresource.nih.gov/literature/gene/RAG1	5896	ENSG00000166349	9831	https://pubmed.ncbi.nlm.nih.gov/?term=RAG1	None	None	27099	3174
RAG2	recombination activating 2	Combined immunodeficiency with granulomatosis?0013587;Omenn syndrome?0008198;Severe combined immunodeficiency due to complete RAG1/2 deficiency?0010339	https://raresource.nih.gov/literature/gene/RAG2	5897	ENSG00000175097	9832	https://pubmed.ncbi.nlm.nih.gov/?term=RAG2	None	None	3427	818
RAI1	retinoic acid induced 1	17p11.2 microduplication syndrome?0010145;Smith-Magenis syndrome?0008197	https://raresource.nih.gov/literature/gene/RAI1	10743	ENSG00000108557	9834	https://pubmed.ncbi.nlm.nih.gov/?term=RAI1	None	None	37045	523
RANBP2	RAN binding protein 2	Familial acute necrotizing encephalopathy?0013232;Inflammatory myofibroblastic tumor?0007146	https://raresource.nih.gov/literature/gene/RANBP2	5903	ENSG00000153201	9848	https://pubmed.ncbi.nlm.nih.gov/?term=RANBP2	None	None	30826	1147
RANGRF	RAN guanine nucleotide release factor	Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/RANGRF	29098	ENSG00000108961	17679	https://pubmed.ncbi.nlm.nih.gov/?term=RANGRF	None	None	1231	44
RAPSN	receptor associated protein of the synapse	Lethal multiple pterygium syndrome?0003834;Fetal akinesia deformation sequence?0009634	https://raresource.nih.gov/literature/gene/RAPSN	5913	ENSG00000165917	9863	https://pubmed.ncbi.nlm.nih.gov/?term=RAPSN	None	None	6346	1214
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	5976
RARB	retinoic acid receptor beta	Matthew-Wood syndrome?0000713;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	1808
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	110
RASA1	RAS p21 protein activator 1	Parkes Weber syndrome?0009787;Capillary malformation-arteriovenous malformation?0011904	https://raresource.nih.gov/literature/gene/RASA1	5921	ENSG00000145715	9871	https://pubmed.ncbi.nlm.nih.gov/?term=RASA1	None	None	49977	3786
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	68
RASGRP1	RAS guanyl releasing protein 1	Autoimmune lymphoproliferative syndrome?0008686	https://raresource.nih.gov/literature/gene/RASGRP1	10125	ENSG00000172575	9878	https://pubmed.ncbi.nlm.nih.gov/?term=RASGRP1	None	None	23880	364
RAX	retina and anterior neural fold homeobox	Colobomatous microphthalmia?0003644	https://raresource.nih.gov/literature/gene/RAX	30062	ENSG00000134438	18662	https://pubmed.ncbi.nlm.nih.gov/?term=RAX	None	None	3202	355
RAX2	retina and anterior neural fold homeobox 2	Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/RAX2	84839	ENSG00000173976	18286	https://pubmed.ncbi.nlm.nih.gov/?term=RAX2	None	None	2362	29
RB1	RB transcriptional corepressor 1	Small cell lung cancer?0009344;Osteosarcoma?0007284	https://raresource.nih.gov/literature/gene/RB1	5925	ENSG00000139687	9884	https://pubmed.ncbi.nlm.nih.gov/?term=RB1	None	None	52216	16023
RBBP8	RB binding protein 8, endonuclease	Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/RBBP8	5932	ENSG00000101773	9891	https://pubmed.ncbi.nlm.nih.gov/?term=RBBP8	None	None	25097	949
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	113
RBM20	RNA binding motif protein 20	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/RBM20	282996	ENSG00000203867	27424	https://pubmed.ncbi.nlm.nih.gov/?term=RBM20	None	None	71587	172
RBM8A	RNA binding motif protein 8A	Thrombocytopenia-absent radius syndrome?0005116	https://raresource.nih.gov/literature/gene/RBM8A	9939	ENSG00000265241	9905	https://pubmed.ncbi.nlm.nih.gov/?term=RBM8A	None	None	3246	1140
RBP3	retinol binding protein 3	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/RBP3	5949	ENSG00000265203	9921	https://pubmed.ncbi.nlm.nih.gov/?term=RBP3	None	None	5416	975
RBP4	retinol binding protein 4	Colobomatous microphthalmia?0003644	https://raresource.nih.gov/literature/gene/RBP4	5950	ENSG00000138207	9922	https://pubmed.ncbi.nlm.nih.gov/?term=RBP4	None	None	510	3556
RBPJ	recombination signal binding protein for immunoglobulin kappa J region	Adams-Oliver syndrome?0005739	https://raresource.nih.gov/literature/gene/RBPJ	3516	ENSG00000168214	5724	https://pubmed.ncbi.nlm.nih.gov/?term=RBPJ	None	None	45600	1816
RCD1	Retinal cone dystrophy-1	Retinal cone dystrophy 1?0003196	https://raresource.nih.gov/literature/gene/RCD1	5953			https://pubmed.ncbi.nlm.nih.gov/?term=RCD1	None	None	None	81
RD3	RD3 regulator of GUCY2D	Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/RD3	343035	ENSG00000198570	19689	https://pubmed.ncbi.nlm.nih.gov/?term=RD3	None	None	7407	87
RDH12	retinol dehydrogenase 12	Retinitis pigmentosa?0005694;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/RDH12	145226	ENSG00000139988	19977	https://pubmed.ncbi.nlm.nih.gov/?term=RDH12	None	None	9450	157
RECQL4	RecQ like helicase 4	RAPADILINO syndrome?0004637;Baller-Gerold syndrome?0001602	https://raresource.nih.gov/literature/gene/RECQL4	9401	ENSG00000160957	9949	https://pubmed.ncbi.nlm.nih.gov/?term=RECQL4	None	None	8632	373
REEP1	receptor accessory protein 1	Autosomal dominant spastic paraplegia type 31?0010817	https://raresource.nih.gov/literature/gene/REEP1	65055	ENSG00000068615	25786	https://pubmed.ncbi.nlm.nih.gov/?term=REEP1	None	None	43741	127
REEP6	receptor accessory protein 6	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/REEP6	92840	ENSG00000115255	30078	https://pubmed.ncbi.nlm.nih.gov/?term=REEP6	None	None	3421	28
RELA	RELA proto-oncogene, NF-kB subunit	Ependymoma?0006353	https://raresource.nih.gov/literature/gene/RELA	5970	ENSG00000173039	9955	https://pubmed.ncbi.nlm.nih.gov/?term=RELA	None	None	4662	17321
RELN	reelin	Autosomal dominant epilepsy with auditory features?0002257	https://raresource.nih.gov/literature/gene/RELN	5649	ENSG00000189056	9957	https://pubmed.ncbi.nlm.nih.gov/?term=RELN	None	None	194510	2053
RELT	RELT TNF receptor	Hypoplastic amelogenesis imperfecta?0000645	https://raresource.nih.gov/literature/gene/RELT	84957	ENSG00000054967	13764	https://pubmed.ncbi.nlm.nih.gov/?term=RELT	None	None	8339	43
REN	renin	REN-related autosomal dominant tubulointerstitial kidney disease?0013461	https://raresource.nih.gov/literature/gene/REN	5972	ENSG00000143839	9958	https://pubmed.ncbi.nlm.nih.gov/?term=REN	None	None	14371	5634
RERE	arginine-glutamic acid dipeptide repeats	1p36 deletion syndrome?0006082	https://raresource.nih.gov/literature/gene/RERE	473	ENSG00000142599	9965	https://pubmed.ncbi.nlm.nih.gov/?term=RERE	None	None	195554	1103
REST	RE1 silencing transcription factor	Nephroblastoma?0007892	https://raresource.nih.gov/literature/gene/REST	5978	ENSG00000084093	9966	https://pubmed.ncbi.nlm.nih.gov/?term=REST	None	None	13858	53
RET	ret proto-oncogene	Multiple endocrine neoplasia type 2B?0010225;Sporadic pheochromocytoma/secreting paraganglioma?0007385;Hirschsprung disease?0006660;Hereditary pheochromocytoma-paraganglioma?0011984;Differentiated thyroid carcinoma?0012027;Multiple endocrine neoplasia type 2A?0004881	https://raresource.nih.gov/literature/gene/RET	5979	ENSG00000165731	9967	https://pubmed.ncbi.nlm.nih.gov/?term=RET	None	None	25510	8575
RETREG1	reticulophagy regulator 1	Hereditary sensory and autonomic neuropathy type 2?0003976	https://raresource.nih.gov/literature/gene/RETREG1	54463	ENSG00000154153	25964	https://pubmed.ncbi.nlm.nih.gov/?term=RETREG1	None	None	52121	183
REV3L	REV3 like, DNA directed polymerase zeta catalytic subunit	Moebius syndrome?0008549	https://raresource.nih.gov/literature/gene/REV3L	5980	ENSG00000009413	9968	https://pubmed.ncbi.nlm.nih.gov/?term=REV3L	None	None	71237	306
RFC2	replication factor C subunit 2	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/RFC2	5982	ENSG00000049541	9970	https://pubmed.ncbi.nlm.nih.gov/?term=RFC2	None	None	10452	112
RFT1	RFT1 homolog	RFT1-CDG?0012394	https://raresource.nih.gov/literature/gene/RFT1	91869	ENSG00000163933	30220	https://pubmed.ncbi.nlm.nih.gov/?term=RFT1	None	None	16732	155
RFWD3	ring finger and WD repeat domain 3	Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/RFWD3	55159	ENSG00000168411	25539	https://pubmed.ncbi.nlm.nih.gov/?term=RFWD3	None	None	21501	45
RFX5	regulatory factor X5	Immunodeficiency by defective expression of MHC class II?0000824	https://raresource.nih.gov/literature/gene/RFX5	5993	ENSG00000143390	9986	https://pubmed.ncbi.nlm.nih.gov/?term=RFX5	None	None	4070	154
RFX6	regulatory factor X6	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome?0005237	https://raresource.nih.gov/literature/gene/RFX6	222546	ENSG00000185002	21478	https://pubmed.ncbi.nlm.nih.gov/?term=RFX6	None	None	20197	107
RFXANK	regulatory factor X associated ankyrin containing protein	Immunodeficiency by defective expression of MHC class II?0000824	https://raresource.nih.gov/literature/gene/RFXANK	8625	ENSG00000064490	9987	https://pubmed.ncbi.nlm.nih.gov/?term=RFXANK	None	None	3201	4344
RFXAP	regulatory factor X associated protein	Immunodeficiency by defective expression of MHC class II?0000824	https://raresource.nih.gov/literature/gene/RFXAP	5994	ENSG00000133111	9988	https://pubmed.ncbi.nlm.nih.gov/?term=RFXAP	None	None	3266	69
RGR	retinal G protein coupled receptor	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/RGR	5995	ENSG00000148604	9990	https://pubmed.ncbi.nlm.nih.gov/?term=RGR	None	None	8826	129
RGS9	regulator of G protein signaling 9	Bradyopsia?0012299	https://raresource.nih.gov/literature/gene/RGS9	8787	ENSG00000108370	10004	https://pubmed.ncbi.nlm.nih.gov/?term=RGS9	None	None	45609	240
RGS9BP	regulator of G protein signaling 9 binding protein	Bradyopsia?0012299	https://raresource.nih.gov/literature/gene/RGS9BP	388531	ENSG00000186326	30304	https://pubmed.ncbi.nlm.nih.gov/?term=RGS9BP	None	None	1951	186
RHAG	Rh associated glycoprotein	Overhydrated hereditary stomatocytosis?0004183;Rh deficiency syndrome?0012916	https://raresource.nih.gov/literature/gene/RHAG	6005	ENSG00000112077	10006	https://pubmed.ncbi.nlm.nih.gov/?term=RHAG	None	None	14284	342
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	627
RHCE	Rh blood group CcEe antigens	Rh deficiency syndrome?0012916	https://raresource.nih.gov/literature/gene/RHCE	6006	ENSG00000188672	10008	https://pubmed.ncbi.nlm.nih.gov/?term=RHCE	None	None	24323	4001
RHD	Rh blood group D antigen	Rh deficiency syndrome?0012916	https://raresource.nih.gov/literature/gene/RHD	6007	ENSG00000187010	10009	https://pubmed.ncbi.nlm.nih.gov/?term=RHD	None	None	22578	5064
RHO	rhodopsin	Retinitis pigmentosa?0005694;Congenital stationary night blindness?0003995	https://raresource.nih.gov/literature/gene/RHO	6010	ENSG00000163914	10012	https://pubmed.ncbi.nlm.nih.gov/?term=RHO	None	None	4571	33187
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	356
RIPK4	receptor interacting serine/threonine kinase 4	Bartsocas-Papas syndrome?0004436	https://raresource.nih.gov/literature/gene/RIPK4	54101	ENSG00000183421	496	https://pubmed.ncbi.nlm.nih.gov/?term=RIPK4	None	None	8844	164
RIPPLY2	ripply transcriptional repressor 2	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	35
RIT1	Ras like without CAAX 1	Noonan syndrome?0010955	https://raresource.nih.gov/literature/gene/RIT1	6016	ENSG00000143622	10023	https://pubmed.ncbi.nlm.nih.gov/?term=RIT1	None	None	7928	435
RLBP1	retinaldehyde binding protein 1	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/RLBP1	6017	ENSG00000140522	10024	https://pubmed.ncbi.nlm.nih.gov/?term=RLBP1	None	None	4250	363
RMD1	Rippling muscle disease 1	Rippling muscle disease 1?0009165	https://raresource.nih.gov/literature/gene/RMD1	6022			https://pubmed.ncbi.nlm.nih.gov/?term=RMD1	None	None	None	3
RMRP	RNA component of mitochondrial RNA processing endoribonuclease	Cartilage-hair hypoplasia?0006996;Omenn syndrome?0008198;Anauxetic dysplasia?0009657	https://raresource.nih.gov/literature/gene/RMRP	6023	ENSG00000277027	10031	https://pubmed.ncbi.nlm.nih.gov/?term=RMRP	None	None	146	795
RNASEH2A	ribonuclease H2 subunit A	Aicardi-Goutières syndrome?0000575	https://raresource.nih.gov/literature/gene/RNASEH2A	10535	ENSG00000104889	18518	https://pubmed.ncbi.nlm.nih.gov/?term=RNASEH2A	None	None	4160	1828
RNASEH2B	ribonuclease H2 subunit B	Aicardi-Goutières syndrome?0000575	https://raresource.nih.gov/literature/gene/RNASEH2B	79621	ENSG00000136104	25671	https://pubmed.ncbi.nlm.nih.gov/?term=RNASEH2B	None	None	20898	95
RNASEH2C	ribonuclease H2 subunit C	Aicardi-Goutières syndrome?0000575	https://raresource.nih.gov/literature/gene/RNASEH2C	84153	ENSG00000172922	24116	https://pubmed.ncbi.nlm.nih.gov/?term=RNASEH2C	None	None	1595	136
RNASEL	ribonuclease L	Familial prostate cancer?0004520	https://raresource.nih.gov/literature/gene/RNASEL	6041	ENSG00000135828	10050	https://pubmed.ncbi.nlm.nih.gov/?term=RNASEL	None	None	7998	982
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	161
RNF113A	ring finger protein 113A	Trichothiodystrophy?0012109	https://raresource.nih.gov/literature/gene/RNF113A	7737	ENSG00000125352	12974	https://pubmed.ncbi.nlm.nih.gov/?term=RNF113A	None	None	597	33
RNF139	ring finger protein 139	Hereditary clear cell renal cell carcinoma?0009571	https://raresource.nih.gov/literature/gene/RNF139	11236	ENSG00000170881	17023	https://pubmed.ncbi.nlm.nih.gov/?term=RNF139	None	None	6555	130
RNF213	ring finger protein 213	Moyamoya disease?0007064	https://raresource.nih.gov/literature/gene/RNF213	57674	ENSG00000173821	14539	https://pubmed.ncbi.nlm.nih.gov/?term=RNF213	None	None	61078	405
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	76
RNPC3	RNA binding region (RNP1, RRM) containing 3	Isolated growth hormone deficiency type IA?0007399	https://raresource.nih.gov/literature/gene/RNPC3	55599	ENSG00000185946	18666	https://pubmed.ncbi.nlm.nih.gov/?term=RNPC3	None	None	11118	713
RNU4ATAC	RNA, U4atac small nuclear (U12-dependent splicing)	Roifman syndrome?0009163;Microcephalic osteodysplastic primordial dwarfism types I and III?0005120;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	229
ROBO1	roundabout guidance receptor 1	Pituitary stalk interruption syndrome?0013209	https://raresource.nih.gov/literature/gene/ROBO1	6091	ENSG00000169855	10249	https://pubmed.ncbi.nlm.nih.gov/?term=ROBO1	None	None	437215	650
ROBO3	roundabout guidance receptor 3	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	263
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	36
ROM1	retinal outer segment membrane protein 1	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/ROM1	6094	ENSG00000149489	10254	https://pubmed.ncbi.nlm.nih.gov/?term=ROM1	None	None	1306	148
RP1	RP1 axonemal microtubule associated	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/RP1	6101	ENSG00000104237	10263	https://pubmed.ncbi.nlm.nih.gov/?term=RP1	None	None	142313	613
RP1L1	RP1 like 1	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/RP1L1	94137	ENSG00000183638	15946	https://pubmed.ncbi.nlm.nih.gov/?term=RP1L1	None	None	40714	82
RP2	RP2 activator of ARL3 GTPase	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/RP2	6102	ENSG00000102218	10274	https://pubmed.ncbi.nlm.nih.gov/?term=RP2	None	None	8860	309
RP9	RP9 pre-mRNA splicing factor	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/RP9	6100	ENSG00000164610	10288	https://pubmed.ncbi.nlm.nih.gov/?term=RP9	None	None	5705	4200
RPE65	retinoid isomerohydrolase RPE65	Retinitis pigmentosa?0005694;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/RPE65	6121	ENSG00000116745	10294	https://pubmed.ncbi.nlm.nih.gov/?term=RPE65	None	None	9258	765
RPGR	retinitis pigmentosa GTPase regulator	Cone-rod dystrophy, x-linked, 1?0010652;Primary ciliary dyskinesia?0004484;Retinitis pigmentosa?0005694;Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/RPGR	6103	ENSG00000156313	10295	https://pubmed.ncbi.nlm.nih.gov/?term=RPGR	None	None	10277	645
RPGRIP1	RPGR interacting protein 1	Leber congenital amaurosis?0000634;Meckel syndrome?0003436;Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/RPGRIP1	57096	ENSG00000092200	13436	https://pubmed.ncbi.nlm.nih.gov/?term=RPGRIP1	None	None	21354	168
RPGRIP1L	RPGRIP1 like	Joubert syndrome with hepatic defect?0001410;Meckel syndrome?0003436;Joubert syndrome with renal defect?0010169	https://raresource.nih.gov/literature/gene/RPGRIP1L	23322	ENSG00000103494	29168	https://pubmed.ncbi.nlm.nih.gov/?term=RPGRIP1L	None	None	26166	148
RPL11	ribosomal protein L11	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPL11	6135	ENSG00000142676	10301	https://pubmed.ncbi.nlm.nih.gov/?term=RPL11	None	None	4329	690
RPL15	ribosomal protein L15	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPL15	6138	ENSG00000174748	10306	https://pubmed.ncbi.nlm.nih.gov/?term=RPL15	None	None	1372	278
RPL18	ribosomal protein L18	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPL18	6141	ENSG00000063177	10310	https://pubmed.ncbi.nlm.nih.gov/?term=RPL18	None	None	1909	203
RPL21	ribosomal protein L21	Hypotrichosis simplex?0009170	https://raresource.nih.gov/literature/gene/RPL21	6144	ENSG00000122026	10313	https://pubmed.ncbi.nlm.nih.gov/?term=RPL21	None	None	2978	101
RPL26	ribosomal protein L26	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPL26	6154	ENSG00000161970	10327	https://pubmed.ncbi.nlm.nih.gov/?term=RPL26	None	None	2370	403
RPL27	ribosomal protein L27	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPL27	6155	ENSG00000131469	10328	https://pubmed.ncbi.nlm.nih.gov/?term=RPL27	None	None	2857	198
RPL31	ribosomal protein L31	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPL31	6160	ENSG00000071082	10334	https://pubmed.ncbi.nlm.nih.gov/?term=RPL31	None	None	2839	110
RPL35	ribosomal protein L35	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPL35	11224	ENSG00000136942	10344	https://pubmed.ncbi.nlm.nih.gov/?term=RPL35	None	None	1628	88
RPL35A	ribosomal protein L35a	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPL35A	6165	ENSG00000182899	10345	https://pubmed.ncbi.nlm.nih.gov/?term=RPL35A	None	None	376	75
RPL5	ribosomal protein L5	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPL5	6125	ENSG00000122406	10360	https://pubmed.ncbi.nlm.nih.gov/?term=RPL5	None	None	4963	708
RPN1	ribophorin I	Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)?0012759	https://raresource.nih.gov/literature/gene/RPN1	6184	ENSG00000163902	10381	https://pubmed.ncbi.nlm.nih.gov/?term=RPN1	None	None	25797	362
RPS10	ribosomal protein S10	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPS10	6204	ENSG00000124614	10383	https://pubmed.ncbi.nlm.nih.gov/?term=RPS10	None	None	21	371
RPS14	ribosomal protein S14	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality?0008723	https://raresource.nih.gov/literature/gene/RPS14	6208	ENSG00000164587	10387	https://pubmed.ncbi.nlm.nih.gov/?term=RPS14	None	None	4158	550
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	597
RPS15A	ribosomal protein S15a	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPS15A	6210	ENSG00000134419	10389	https://pubmed.ncbi.nlm.nih.gov/?term=RPS15A	None	None	4338	80
RPS17	ribosomal protein S17	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPS17	6218	ENSG00000182774	10397	https://pubmed.ncbi.nlm.nih.gov/?term=RPS17	None	None	23	192
RPS19	ribosomal protein S19	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPS19	6223	ENSG00000105372	10402	https://pubmed.ncbi.nlm.nih.gov/?term=RPS19	None	None	5651	1018
RPS20	ribosomal protein S20	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPS20	6224	ENSG00000008988	10405	https://pubmed.ncbi.nlm.nih.gov/?term=RPS20	None	None	6062	292
RPS24	ribosomal protein S24	Diamond-blackfan anemia 3?0010241;Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPS24	6229	ENSG00000138326	10411	https://pubmed.ncbi.nlm.nih.gov/?term=RPS24	None	None	10970	6055
RPS26	ribosomal protein S26	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPS26	6231	ENSG00000197728	10414	https://pubmed.ncbi.nlm.nih.gov/?term=RPS26	None	None	2378	120
RPS27	ribosomal protein S27	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPS27	6232	ENSG00000177954	10416	https://pubmed.ncbi.nlm.nih.gov/?term=RPS27	None	None	1629	585
RPS28	ribosomal protein S28	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPS28	6234	ENSG00000233927	10418	https://pubmed.ncbi.nlm.nih.gov/?term=RPS28	None	None	383	92
RPS29	ribosomal protein S29	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPS29	6235	ENSG00000213741	10419	https://pubmed.ncbi.nlm.nih.gov/?term=RPS29	None	None	9202	74
RPS6KA3	ribosomal protein S6 kinase A3	Coffin-Lowry syndrome?0006123	https://raresource.nih.gov/literature/gene/RPS6KA3	6197	ENSG00000177189	10432	https://pubmed.ncbi.nlm.nih.gov/?term=RPS6KA3	None	None	19900	1489
RPS7	ribosomal protein S7	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/RPS7	6201	ENSG00000171863	10440	https://pubmed.ncbi.nlm.nih.gov/?term=RPS7	None	None	4062	543
RRAS	RAS related	Juvenile myelomonocytic leukemia?0009884;Noonan syndrome?0010955	https://raresource.nih.gov/literature/gene/RRAS	6237	ENSG00000126458	10447	https://pubmed.ncbi.nlm.nih.gov/?term=RRAS	None	None	2910	1076
RRAS2	RAS related 2	Noonan syndrome?0010955	https://raresource.nih.gov/literature/gene/RRAS2	22800	ENSG00000133818	17271	https://pubmed.ncbi.nlm.nih.gov/?term=RRAS2	None	None	33870	129
RREB1	ras responsive element binding protein 1	22q11.2 deletion syndrome?0010299	https://raresource.nih.gov/literature/gene/RREB1	6239	ENSG00000124782	10449	https://pubmed.ncbi.nlm.nih.gov/?term=RREB1	None	None	61187	381
RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	Kearns-Sayre syndrome?0006817;Mitochondrial neurogastrointestinal encephalomyopathy?0009920;Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy?0013200	https://raresource.nih.gov/literature/gene/RRM2B	50484	ENSG00000048392	17296	https://pubmed.ncbi.nlm.nih.gov/?term=RRM2B	None	None	13252	278
RS1	retinoschisin 1	X-linked retinoschisis?0004690	https://raresource.nih.gov/literature/gene/RS1	6247	ENSG00000102104	10457	https://pubmed.ncbi.nlm.nih.gov/?term=RS1	None	None	5029	805
RSPH1	radial spoke head component 1	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	63
RSPH3	radial spoke head 3	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	35
RSPH4A	radial spoke head component 4A	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	43
RSPH9	radial spoke head component 9	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	38
RSPO2	R-spondin 2	Tetraamelia-multiple malformations syndrome?0000386	https://raresource.nih.gov/literature/gene/RSPO2	340419	ENSG00000147655	28583	https://pubmed.ncbi.nlm.nih.gov/?term=RSPO2	None	None	70530	221
RTEL1	regulator of telomere elongation helicase 1	Dyskeratosis congenita?0010905;Idiopathic pulmonary fibrosis?0008609;Hoyeraal-Hreidarsson syndrome?0000346	https://raresource.nih.gov/literature/gene/RTEL1	51750	ENSG00000258366	15888	https://pubmed.ncbi.nlm.nih.gov/?term=RTEL1	None	None	27409	287
RTL1	retrotransposon Gag like 1	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14?0005409	https://raresource.nih.gov/literature/gene/RTL1	388015	ENSG00000254656	14665	https://pubmed.ncbi.nlm.nih.gov/?term=RTL1	None	None	11326	498
RTN2	reticulon 2	Autosomal dominant spastic paraplegia type 12?0009586	https://raresource.nih.gov/literature/gene/RTN2	6253	ENSG00000125744	10468	https://pubmed.ncbi.nlm.nih.gov/?term=RTN2	None	None	4543	910
RUNX1	RUNX family transcription factor 1	Familial platelet disorder with associated myeloid malignancy?0010352;Chronic myeloid leukemia?0006105	https://raresource.nih.gov/literature/gene/RUNX1	861	ENSG00000159216	10471	https://pubmed.ncbi.nlm.nih.gov/?term=RUNX1	None	None	158081	5789
RUNX2	RUNX family transcription factor 2	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome?0003568;Cleidocranial dysplasia?0006118	https://raresource.nih.gov/literature/gene/RUNX2	860	ENSG00000124813	10472	https://pubmed.ncbi.nlm.nih.gov/?term=RUNX2	None	None	125733	11390
RXYLT1	ribitol xylosyltransferase 1	Walker-Warburg syndrome?0002599	https://raresource.nih.gov/literature/gene/RXYLT1	10329	ENSG00000118600	13530	https://pubmed.ncbi.nlm.nih.gov/?term=RXYLT1	None	None	9805	247
RYR1	ryanodine receptor 1	Autosomal dominant centronuclear myopathy?0012719;Lethal multiple pterygium syndrome?0003834;Malignant hyperthermia of anesthesia?0006964;King-Denborough syndrome?0008433;Autosomal recessive centronuclear myopathy?0012718;Central core disease?0006014;Congenital multicore myopathy with external ophthalmoplegia?0010316	https://raresource.nih.gov/literature/gene/RYR1	6261	ENSG00000196218	10483	https://pubmed.ncbi.nlm.nih.gov/?term=RYR1	None	None	49622	4829
RYR2	ryanodine receptor 2	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	4302
SAA1	serum amyloid A1	AA amyloidosis?0010560	https://raresource.nih.gov/literature/gene/SAA1	6288	ENSG00000173432	10513	https://pubmed.ncbi.nlm.nih.gov/?term=SAA1	None	None	3427	1014
SACS	sacsin molecular chaperone	Autosomal recessive spastic ataxia of Charlevoix-Saguenay?0004910	https://raresource.nih.gov/literature/gene/SACS	26278	ENSG00000151835	10519	https://pubmed.ncbi.nlm.nih.gov/?term=SACS	None	None	30645	213
SAG	S-antigen visual arrestin	Oguchi disease?0010118;Retinitis pigmentosa?0005694;Congenital stationary night blindness?0003995	https://raresource.nih.gov/literature/gene/SAG	6295	ENSG00000130561	10521	https://pubmed.ncbi.nlm.nih.gov/?term=SAG	None	None	16367	164
SALL1	spalt like transcription factor 1	Townes-Brocks syndrome?0007784	https://raresource.nih.gov/literature/gene/SALL1	6299	ENSG00000103449	10524	https://pubmed.ncbi.nlm.nih.gov/?term=SALL1	None	None	6936	335
SALL2	spalt like transcription factor 2	Coloboma of macula?0001436;Coloboma of eye lens?0001433;Coloboma of optic disc?0001438;Coloboma of iris?0001434	https://raresource.nih.gov/literature/gene/SALL2	6297	ENSG00000165821	10526	https://pubmed.ncbi.nlm.nih.gov/?term=SALL2	None	None	5941	82
SALL4	spalt like transcription factor 4	IVIC syndrome?0000269;Duane retraction syndrome?0006288	https://raresource.nih.gov/literature/gene/SALL4	57167	ENSG00000101115	15924	https://pubmed.ncbi.nlm.nih.gov/?term=SALL4	None	None	7611	880
SAMD9	sterile alpha motif domain containing 9	MIRAGE syndrome?0013108;Familial normophosphatemic tumoral calcinosis?0010878	https://raresource.nih.gov/literature/gene/SAMD9	54809	ENSG00000205413	1348	https://pubmed.ncbi.nlm.nih.gov/?term=SAMD9	None	None	9626	164
SAMD9L	sterile alpha motif domain containing 9 like	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	107
SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	Aicardi-Goutières syndrome?0000575	https://raresource.nih.gov/literature/gene/SAMHD1	25939	ENSG00000101347	15925	https://pubmed.ncbi.nlm.nih.gov/?term=SAMHD1	None	None	18991	730
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	90
SARDH	sarcosine dehydrogenase	Sarcosinemia?0000158	https://raresource.nih.gov/literature/gene/SARDH	1757	ENSG00000123453	10536	https://pubmed.ncbi.nlm.nih.gov/?term=SARDH	None	None	32442	4009
SASS6	SAS-6 centriolar assembly protein	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	133
SAT1	spermidine/spermine N1-acetyltransferase 1	Keratosis follicularis spinulosa decalvans?0006829	https://raresource.nih.gov/literature/gene/SAT1	6303	ENSG00000130066	10540	https://pubmed.ncbi.nlm.nih.gov/?term=SAT1	None	None	2011	1230
SATB2	SATB homeobox 2	2q32q33 microdeletion syndrome?0013206	https://raresource.nih.gov/literature/gene/SATB2	23314	ENSG00000119042	21637	https://pubmed.ncbi.nlm.nih.gov/?term=SATB2	None	None	74271	741
SBDS	SBDS ribosome maturation factor	Shwachman-Diamond syndrome?0004863;Idiopathic aplastic anemia?0005836	https://raresource.nih.gov/literature/gene/SBDS	51119	ENSG00000126524	19440	https://pubmed.ncbi.nlm.nih.gov/?term=SBDS	None	None	4274	310
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	129
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	273
SCAPER	S-phase cyclin A associated protein in the ER	Bardet-Biedl syndrome?0006866;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/SCAPER	49855	ENSG00000140386	13081	https://pubmed.ncbi.nlm.nih.gov/?term=SCAPER	None	None	179202	24
SCARB2	scavenger receptor class B member 2	Progressive myoclonic epilepsy type 1?0003876;Gaucher disease type 1?0002441	https://raresource.nih.gov/literature/gene/SCARB2	950	ENSG00000138760	1665	https://pubmed.ncbi.nlm.nih.gov/?term=SCARB2	None	None	25494	349
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	72
SCN10A	sodium voltage-gated channel alpha subunit 10	Paroxysmal extreme pain disorder?0012854;Congenital insensitivity to pain-anosmia-neuropathic arthropathy?0012267;Primary erythromelalgia?0006377;Brugada syndrome?0001030;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/SCN10A	6336	ENSG00000185313	10582	https://pubmed.ncbi.nlm.nih.gov/?term=SCN10A	None	None	49078	679
SCN11A	sodium voltage-gated channel alpha subunit 11	Primary erythromelalgia?0006377;Congenital insensitivity to pain-anosmia-neuropathic arthropathy?0012267;Hereditary sensory and autonomic neuropathy type 7?0012732;Paroxysmal extreme pain disorder?0012854	https://raresource.nih.gov/literature/gene/SCN11A	11280	ENSG00000168356	10583	https://pubmed.ncbi.nlm.nih.gov/?term=SCN11A	None	None	75520	331
SCN1A	sodium voltage-gated channel alpha subunit 1	Myoclonic-astatic epilepsy?0002169;Malignant migrating focal seizures of infancy?0012919;Familial or sporadic hemiplegic migraine?0010768;Dravet syndrome?0010430;Lennox-Gastaut syndrome?0009912	https://raresource.nih.gov/literature/gene/SCN1A	6323	ENSG00000144285	10585	https://pubmed.ncbi.nlm.nih.gov/?term=SCN1A	None	None	63808	1723
SCN1B	sodium voltage-gated channel beta subunit 1	Familial atrial fibrillation?0009740;Dravet syndrome?0010430;Brugada syndrome?0001030;Familial progressive cardiac conduction defect?0010005;Early infantile epileptic encephalopathy?0009255	https://raresource.nih.gov/literature/gene/SCN1B	6324	ENSG00000105711	10586	https://pubmed.ncbi.nlm.nih.gov/?term=SCN1B	None	None	4094	278
SCN2A	sodium voltage-gated channel alpha subunit 2	Malignant migrating focal seizures of infancy?0012919;Dravet syndrome?0010430;Benign familial neonatal-infantile seizures?0001518;Infantile spasms syndrome?0007887;Benign familial infantile epilepsy?0000857;Early infantile epileptic encephalopathy?0009255	https://raresource.nih.gov/literature/gene/SCN2A	6326	ENSG00000136531	10588	https://pubmed.ncbi.nlm.nih.gov/?term=SCN2A	None	None	69487	2241
SCN2B	sodium voltage-gated channel beta subunit 2	Familial atrial fibrillation?0009740;Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/SCN2B	6327	ENSG00000149575	10589	https://pubmed.ncbi.nlm.nih.gov/?term=SCN2B	None	None	5094	72
SCN3B	sodium voltage-gated channel beta subunit 3	Familial atrial fibrillation?0009740;Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/SCN3B	55800	ENSG00000166257	20665	https://pubmed.ncbi.nlm.nih.gov/?term=SCN3B	None	None	7127	75
SCN4A	sodium voltage-gated channel alpha subunit 4	Hypokalemic periodic paralysis?0006729;Hyperkalemic periodic paralysis?0000195;Paramyotonia congenita of Von Eulenburg?0007325	https://raresource.nih.gov/literature/gene/SCN4A	6329	ENSG00000007314	10591	https://pubmed.ncbi.nlm.nih.gov/?term=SCN4A	None	None	12416	649
SCN4B	sodium voltage-gated channel beta subunit 4	Familial atrial fibrillation?0009740;Long qt syndrome 10?0010436;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/SCN4B	6330	ENSG00000177098	10592	https://pubmed.ncbi.nlm.nih.gov/?term=SCN4B	None	None	6281	78
SCN5A	sodium voltage-gated channel alpha subunit 5	Familial isolated dilated cardiomyopathy?0002905;Long qt syndrome 3?0003286;Cardiomyopathy, dilated, 1e?0005644;Familial sick sinus syndrome?0013663;Idiopathic ventricular fibrillation, non Brugada type?0004227;Familial atrial fibrillation?0009740;Brugada syndrome?0001030;Familial progressive cardiac conduction defect?0010005;Progressive familial heart block, type ia?0001093;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/SCN5A	6331	ENSG00000183873	10593	https://pubmed.ncbi.nlm.nih.gov/?term=SCN5A	None	None	41001	2711
SCN8A	sodium voltage-gated channel alpha subunit 8	Infantile convulsions and choreoathetosis?0008553;Benign familial infantile epilepsy?0000857;Developmental and epileptic encephalopathy 13?0013085	https://raresource.nih.gov/literature/gene/SCN8A	6334	ENSG00000196876	10596	https://pubmed.ncbi.nlm.nih.gov/?term=SCN8A	None	None	50793	868
SCN9A	sodium voltage-gated channel alpha subunit 9	Paroxysmal extreme pain disorder?0012854;Hereditary sensory and autonomic neuropathy type 2?0003976;Primary erythromelalgia?0006377;Congenital insensitivity to pain-anosmia-neuropathic arthropathy?0012267;Dravet syndrome?0010430	https://raresource.nih.gov/literature/gene/SCN9A	6335	ENSG00000169432	10597	https://pubmed.ncbi.nlm.nih.gov/?term=SCN9A	None	None	69598	1096
SCNN1A	sodium channel epithelial 1 subunit alpha	Liddle syndrome?0007381;Generalized pseudohypoaldosteronism type 1?0004552;Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/SCNN1A	6337	ENSG00000111319	10599	https://pubmed.ncbi.nlm.nih.gov/?term=SCNN1A	None	None	9064	340
SCNN1B	sodium channel epithelial 1 subunit beta	Liddle syndrome?0007381;Generalized pseudohypoaldosteronism type 1?0004552	https://raresource.nih.gov/literature/gene/SCNN1B	6338	ENSG00000168447	10600	https://pubmed.ncbi.nlm.nih.gov/?term=SCNN1B	None	None	29501	260
SCNN1G	sodium channel epithelial 1 subunit gamma	Liddle syndrome?0007381;Generalized pseudohypoaldosteronism type 1?0004552	https://raresource.nih.gov/literature/gene/SCNN1G	6340	ENSG00000166828	10602	https://pubmed.ncbi.nlm.nih.gov/?term=SCNN1G	None	None	10806	201
SCO2	synthesis of cytochrome C oxidase 2	Myopia 6?0009937	https://raresource.nih.gov/literature/gene/SCO2	9997	ENSG00000284194	10604	https://pubmed.ncbi.nlm.nih.gov/?term=SCO2	None	None	1118	3038
SCP2	sterol carrier protein 2	Leukoencephalopathy-dystonia-motor neuropathy syndrome?0012471	https://raresource.nih.gov/literature/gene/SCP2	6342	ENSG00000116171	10606	https://pubmed.ncbi.nlm.nih.gov/?term=SCP2	None	None	46831	585
SDCCAG8	SHH signaling and ciliogenesis regulator SDCCAG8	Senior-Loken syndrome?0000322;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/SDCCAG8	10806	ENSG00000054282	10671	https://pubmed.ncbi.nlm.nih.gov/?term=SDCCAG8	None	None	89645	29
SDHA	succinate dehydrogenase complex flavoprotein subunit A	Familial isolated dilated cardiomyopathy?0002905;Gastrointestinal stromal tumor?0008598;Hereditary pheochromocytoma-paraganglioma?0011984;Isolated succinate-CoQ reductase deficiency?0005053	https://raresource.nih.gov/literature/gene/SDHA	6389	ENSG00000073578	10680	https://pubmed.ncbi.nlm.nih.gov/?term=SDHA	None	None	21418	1879
SDHAF1	succinate dehydrogenase complex assembly factor 1	Isolated succinate-CoQ reductase deficiency?0005053	https://raresource.nih.gov/literature/gene/SDHAF1	644096	ENSG00000205138	33867	https://pubmed.ncbi.nlm.nih.gov/?term=SDHAF1	None	None	1474	29
SDHAF2	succinate dehydrogenase complex assembly factor 2	Hereditary pheochromocytoma-paraganglioma?0011984;Paragangliomas 2?0010544	https://raresource.nih.gov/literature/gene/SDHAF2	54949	ENSG00000167985	26034	https://pubmed.ncbi.nlm.nih.gov/?term=SDHAF2	None	None	7601	187
SDHB	succinate dehydrogenase complex iron sulfur subunit B	Carney-Stratakis syndrome?0010643;Hereditary pheochromocytoma-paraganglioma?0011984;Cowden syndrome?0006202;Isolated succinate-CoQ reductase deficiency?0005053;Gastrointestinal stromal tumor?0008598;Paragangliomas 4?0010546;Sporadic pheochromocytoma/secreting paraganglioma?0007385	https://raresource.nih.gov/literature/gene/SDHB	6390	ENSG00000117118	10681	https://pubmed.ncbi.nlm.nih.gov/?term=SDHB	None	None	17885	10485
SDHC	succinate dehydrogenase complex subunit C	Carney-Stratakis syndrome?0010643;Hereditary pheochromocytoma-paraganglioma?0011984;Cowden syndrome?0006202;Gastrointestinal stromal tumor?0008598;Paragangliomas 3?0010545	https://raresource.nih.gov/literature/gene/SDHC	6391	ENSG00000143252	10682	https://pubmed.ncbi.nlm.nih.gov/?term=SDHC	None	None	26118	853
SDHD	succinate dehydrogenase complex subunit D	Carney-Stratakis syndrome?0010643;Cowden syndrome?0006202;Isolated succinate-CoQ reductase deficiency?0005053;Hereditary pheochromocytoma-paraganglioma?0011984;Paragangliomas 1?0007324;Carcinoid syndrome?0005994;Sporadic pheochromocytoma/secreting paraganglioma?0007385	https://raresource.nih.gov/literature/gene/SDHD	6392	ENSG00000204370	10683	https://pubmed.ncbi.nlm.nih.gov/?term=SDHD	None	None	11812	1071
SDR9C7	short chain dehydrogenase/reductase family 9C member 7	Lamellar ichthyosis?0010803	https://raresource.nih.gov/literature/gene/SDR9C7	121214	ENSG00000170426	29958	https://pubmed.ncbi.nlm.nih.gov/?term=SDR9C7	None	None	4283	58
SEC23B	SEC23 homolog B, COPII coat complex component	Congenital dyserythropoietic anemia type II?0002001;Cowden syndrome?0006202	https://raresource.nih.gov/literature/gene/SEC23B	10483	ENSG00000101310	10702	https://pubmed.ncbi.nlm.nih.gov/?term=SEC23B	None	None	16043	108
SEC24C	SEC24 homolog C, COPII coat complex component	22q11.2 deletion syndrome?0010299	https://raresource.nih.gov/literature/gene/SEC24C	9632	ENSG00000176986	10705	https://pubmed.ncbi.nlm.nih.gov/?term=SEC24C	None	None	11458	54
SEC24D	SEC24 homolog D, COPII coat complex component	Cole-Carpenter syndrome?0001425;Osteogenesis imperfecta type 1?0008694	https://raresource.nih.gov/literature/gene/SEC24D	9871	ENSG00000150961	10706	https://pubmed.ncbi.nlm.nih.gov/?term=SEC24D	None	None	41956	68
SEC63	SEC63 homolog, protein translocation regulator	Isolated polycystic liver disease?0009457	https://raresource.nih.gov/literature/gene/SEC63	11231	ENSG00000025796	21082	https://pubmed.ncbi.nlm.nih.gov/?term=SEC63	None	None	39849	178
SELENON	selenoprotein N	Congenital fiber-type disproportion myopathy?0006161;Classic multiminicore myopathy?0013661;Rigid spine syndrome?0004723	https://raresource.nih.gov/literature/gene/SELENON	57190	ENSG00000162430	15999	https://pubmed.ncbi.nlm.nih.gov/?term=SELENON	None	None	8538	273
SEM1	SEM1 26S proteasome subunit	Isolated split hand-split foot malformation?0006319	https://raresource.nih.gov/literature/gene/SEM1	7979	ENSG00000127922	10845	https://pubmed.ncbi.nlm.nih.gov/?term=SEM1	None	None	73684	382
SEMA3A	semaphorin 3A	Brugada syndrome?0001030;Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/SEMA3A	10371	ENSG00000075213	10723	https://pubmed.ncbi.nlm.nih.gov/?term=SEMA3A	None	None	118989	1358
SEMA3C	semaphorin 3C	Hirschsprung disease?0006660	https://raresource.nih.gov/literature/gene/SEMA3C	10512	ENSG00000075223	10725	https://pubmed.ncbi.nlm.nih.gov/?term=SEMA3C	None	None	66456	232
SEMA3D	semaphorin 3D	Hirschsprung disease?0006660	https://raresource.nih.gov/literature/gene/SEMA3D	223117	ENSG00000153993	10726	https://pubmed.ncbi.nlm.nih.gov/?term=SEMA3D	None	None	68135	109
SEMA3E	semaphorin 3E	CHARGE syndrome?0000029	https://raresource.nih.gov/literature/gene/SEMA3E	9723	ENSG00000170381	10727	https://pubmed.ncbi.nlm.nih.gov/?term=SEMA3E	None	None	110628	177
SEMA4A	semaphorin 4A	Retinitis pigmentosa?0005694;Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/SEMA4A	64218	ENSG00000196189	10729	https://pubmed.ncbi.nlm.nih.gov/?term=SEMA4A	None	None	13164	129
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	627
SEMA5A	semaphorin 5A	Monosomy 5p?0006213	https://raresource.nih.gov/literature/gene/SEMA5A	9037	ENSG00000112902	10736	https://pubmed.ncbi.nlm.nih.gov/?term=SEMA5A	None	None	192809	150
SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	Pontocerebellar hypoplasia type 2?0010705	https://raresource.nih.gov/literature/gene/SEPSECS	51091	ENSG00000109618	30605	https://pubmed.ncbi.nlm.nih.gov/?term=SEPSECS	None	None	15262	1343
SEPTIN14	septin 14	Gliosarcoma?0005653	https://raresource.nih.gov/literature/gene/SEPTIN14	346288	ENSG00000154997	33280	https://pubmed.ncbi.nlm.nih.gov/?term=SEPTIN14	None	None	27438	34
SEPTIN9	septin 9	Amyotrophy, hereditary neuralgic?0003955;Neuralgic amyotrophy?0004228	https://raresource.nih.gov/literature/gene/SEPTIN9	10801	ENSG00000184640	7323	https://pubmed.ncbi.nlm.nih.gov/?term=SEPTIN9	None	None	82306	617
SERAC1	serine active site containing 1	MEGDEL syndrome?0012963	https://raresource.nih.gov/literature/gene/SERAC1	84947	ENSG00000122335	21061	https://pubmed.ncbi.nlm.nih.gov/?term=SERAC1	None	None	22656	60
SERPINA1	serpin family A member 1	Cystic fibrosis?0006233;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	13004
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	1659
SERPINC1	serpin family C member 1	Hereditary thrombophilia due to congenital antithrombin deficiency?0006148	https://raresource.nih.gov/literature/gene/SERPINC1	462	ENSG00000117601	775	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINC1	None	None	6183	32
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	15723
SERPINF1	serpin family F member 1	Osteogenesis imperfecta type 3?0008695;Osteogenesis imperfecta type 4?0008696;Osteogenesis imperfecta, type vi?0008700	https://raresource.nih.gov/literature/gene/SERPINF1	5176	ENSG00000132386	8824	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINF1	None	None	5873	175
SERPINF2	serpin family F member 2	Congenital alpha2-antiplasmin deficiency?0000731	https://raresource.nih.gov/literature/gene/SERPINF2	5345	ENSG00000167711	9075	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINF2	None	None	5847	2484
SERPINH1	serpin family H member 1	Osteogenesis imperfecta type 3?0008695	https://raresource.nih.gov/literature/gene/SERPINH1	871	ENSG00000149257	1546	https://pubmed.ncbi.nlm.nih.gov/?term=SERPINH1	None	None	4060	1225
SET	SET nuclear proto-oncogene	Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/SET	6418	ENSG00000119335	10760	https://pubmed.ncbi.nlm.nih.gov/?term=SET	None	None	7705	2787
SETBP1	SET binding protein 1	Schinzel-Giedion syndrome?0000117;Intellectual developmental disorder, 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	1889
SETD1B	SET domain containing 1B, histone lysine methyltransferase	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	135
SETD2	SET domain containing 2, histone lysine methyltransferase	Sotos syndrome?0010091	https://raresource.nih.gov/literature/gene/SETD2	29072	ENSG00000181555	18420	https://pubmed.ncbi.nlm.nih.gov/?term=SETD2	None	None	69645	20392
SETX	senataxin	Spinocerebellar ataxia with axonal neuropathy type 2?0012860	https://raresource.nih.gov/literature/gene/SETX	23064	ENSG00000107290	445	https://pubmed.ncbi.nlm.nih.gov/?term=SETX	None	None	42243	428
SF3B1	splicing factor 3b subunit 1	Uveal melanoma?0008621;Acquired idiopathic sideroblastic anemia?0008249	https://raresource.nih.gov/literature/gene/SF3B1	23451	ENSG00000115524	10768	https://pubmed.ncbi.nlm.nih.gov/?term=SF3B1	None	None	20979	1256
SF3B4	splicing factor 3b subunit 4	Acrofacial dysostosis, Rodríguez type?0000496;Nager syndrome?0000498	https://raresource.nih.gov/literature/gene/SF3B4	10262	ENSG00000143368	10771	https://pubmed.ncbi.nlm.nih.gov/?term=SF3B4	None	None	2892	126
SFRP4	secreted frizzled related protein 4	Pyle disease?0004612	https://raresource.nih.gov/literature/gene/SFRP4	6424	ENSG00000106483	10778	https://pubmed.ncbi.nlm.nih.gov/?term=SFRP4	None	None	3581	828
SFTPA1	surfactant protein A1	Idiopathic pulmonary fibrosis?0008609	https://raresource.nih.gov/literature/gene/SFTPA1	653509	ENSG00000122852	10798	https://pubmed.ncbi.nlm.nih.gov/?term=SFTPA1	None	None	3552	4809
SFTPA2	surfactant protein A2	Idiopathic pulmonary fibrosis?0008609	https://raresource.nih.gov/literature/gene/SFTPA2	729238	ENSG00000185303	10799	https://pubmed.ncbi.nlm.nih.gov/?term=SFTPA2	None	None	3547	3118
SFTPC	surfactant protein C	Idiopathic pulmonary fibrosis?0008609	https://raresource.nih.gov/literature/gene/SFTPC	6440	ENSG00000168484	10802	https://pubmed.ncbi.nlm.nih.gov/?term=SFTPC	None	None	2432	1714
SGCA	sarcoglycan alpha	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3?0000438	https://raresource.nih.gov/literature/gene/SGCA	6442	ENSG00000108823	10805	https://pubmed.ncbi.nlm.nih.gov/?term=SGCA	None	None	5120	356
SGCB	sarcoglycan beta	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4?0003851	https://raresource.nih.gov/literature/gene/SGCB	6443	ENSG00000163069	10806	https://pubmed.ncbi.nlm.nih.gov/?term=SGCB	None	None	8488	2622
SGCD	sarcoglycan delta	Familial isolated dilated cardiomyopathy?0002905;Delta-sarcoglycan-related limb-girdle muscular dystrophy R6?0008573	https://raresource.nih.gov/literature/gene/SGCD	6444	ENSG00000170624	10807	https://pubmed.ncbi.nlm.nih.gov/?term=SGCD	None	None	348401	237
SGCE	sarcoglycan epsilon	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	327
SGCG	sarcoglycan gamma	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5?0002429	https://raresource.nih.gov/literature/gene/SGCG	6445	ENSG00000102683	10809	https://pubmed.ncbi.nlm.nih.gov/?term=SGCG	None	None	37911	2033
SGO1	shugoshin 1	Chronic atrial and intestinal dysrhythmia syndrome?0012281	https://raresource.nih.gov/literature/gene/SGO1	151648	ENSG00000129810	25088	https://pubmed.ncbi.nlm.nih.gov/?term=SGO1	None	None	11021	225
SGSH	N-sulfoglucosamine sulfohydrolase	Sanfilippo syndrome type A?0007071	https://raresource.nih.gov/literature/gene/SGSH	6448	ENSG00000181523	10818	https://pubmed.ncbi.nlm.nih.gov/?term=SGSH	None	None	3815	216
SH2B1	SH2B adaptor protein 1	Proximal 16p11.2 microdeletion syndrome?0010740	https://raresource.nih.gov/literature/gene/SH2B1	25970	ENSG00000178188	30417	https://pubmed.ncbi.nlm.nih.gov/?term=SH2B1	None	None	14124	494
SH2B3	SH2B adaptor protein 3	Essential thrombocythemia?0006594	https://raresource.nih.gov/literature/gene/SH2B3	10019	ENSG00000111252	29605	https://pubmed.ncbi.nlm.nih.gov/?term=SH2B3	None	None	15772	449
SH3BP2	SH3 domain binding protein 2	Cherubism?0006036	https://raresource.nih.gov/literature/gene/SH3BP2	6452	ENSG00000087266	10825	https://pubmed.ncbi.nlm.nih.gov/?term=SH3BP2	None	None	21449	208
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	189
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	65
SHANK3	SH3 and multiple ankyrin repeat domains 3	Monosomy 22q13.3?0010130	https://raresource.nih.gov/literature/gene/SHANK3	85358	ENSG00000251322	14294	https://pubmed.ncbi.nlm.nih.gov/?term=SHANK3	None	None	20675	745
SHH	sonic hedgehog signaling molecule	Colobomatous microphthalmia?0003644;Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome?0008309;Solitary median maxillary central incisor?0004877;Syndactyly type 4?0004434;Radial hemimelia?0000225;Polydactyly of a triphalangeal thumb?0005289	https://raresource.nih.gov/literature/gene/SHH	6469	ENSG00000164690	10848	https://pubmed.ncbi.nlm.nih.gov/?term=SHH	None	None	6868	7025
SHOC2	SHOC2 leucine rich repeat scaffold protein	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	171
SHOX	short stature homeobox	Langer mesomelic dysplasia?0003553;Léri-Weill dyschondrosteosis?0003224	https://raresource.nih.gov/literature/gene/SHOX	6473	ENSG00000185960	10853	https://pubmed.ncbi.nlm.nih.gov/?term=SHOX	None	None	24016	2002
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	41
SI	sucrase-isomaltase	Congenital sucrase-isomaltase deficiency?0007710	https://raresource.nih.gov/literature/gene/SI	6476	ENSG00000090402	10856	https://pubmed.ncbi.nlm.nih.gov/?term=SI	None	None	44916	83
SIGMAR1	sigma non-opioid intracellular receptor 1	Distal hereditary motor neuropathy, Jerash type?0010133;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	349
SIK1	salt inducible kinase 1	Infantile spasms syndrome?0007887;Early infantile epileptic encephalopathy?0009255	https://raresource.nih.gov/literature/gene/SIK1	150094	ENSG00000142178	11142	https://pubmed.ncbi.nlm.nih.gov/?term=SIK1	None	None	3505	461
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	1311
SIN3A	SIN3 transcription regulator family member A	15q24 microdeletion syndrome?0012219	https://raresource.nih.gov/literature/gene/SIN3A	25942	ENSG00000169375	19353	https://pubmed.ncbi.nlm.nih.gov/?term=SIN3A	None	None	24439	443
SIPA1L3	signal induced proliferation associated 1 like 3	Total early-onset cataract?0001159	https://raresource.nih.gov/literature/gene/SIPA1L3	23094	ENSG00000105738	23801	https://pubmed.ncbi.nlm.nih.gov/?term=SIPA1L3	None	None	81910	18
SIX1	SIX homeobox 1	BOR syndrome?0010147;Branchiootic syndrome?0010148;Deafness, autosomal dominant 23?0001708	https://raresource.nih.gov/literature/gene/SIX1	6495	ENSG00000126778	10887	https://pubmed.ncbi.nlm.nih.gov/?term=SIX1	None	None	5628	782
SIX5	SIX homeobox 5	BOR syndrome?0010147	https://raresource.nih.gov/literature/gene/SIX5	147912	ENSG00000177045	10891	https://pubmed.ncbi.nlm.nih.gov/?term=SIX5	None	None	2456	130
SIX6	SIX homeobox 6	Colobomatous microphthalmia?0003644	https://raresource.nih.gov/literature/gene/SIX6	4990	ENSG00000184302	10892	https://pubmed.ncbi.nlm.nih.gov/?term=SIX6	None	None	2121	216
SKI	SKI proto-oncogene	Shprintzen-Goldberg syndrome?0004861;1p36 deletion syndrome?0006082	https://raresource.nih.gov/literature/gene/SKI	6497	ENSG00000157933	10896	https://pubmed.ncbi.nlm.nih.gov/?term=SKI	None	None	41583	897
SLC11A1	solute carrier family 11 member 1	Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/SLC11A1	6556	ENSG00000018280	10907	https://pubmed.ncbi.nlm.nih.gov/?term=SLC11A1	None	None	7404	1190
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	1275
SLC12A3	solute carrier family 12 member 3	Gitelman syndrome?0008547	https://raresource.nih.gov/literature/gene/SLC12A3	6559	ENSG00000070915	10912	https://pubmed.ncbi.nlm.nih.gov/?term=SLC12A3	None	None	15818	1821
SLC12A5	solute carrier family 12 member 5	Malignant migrating focal 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	1053
SLC12A6	solute carrier family 12 member 6	Corpus callosum agenesis-neuronopathy syndrome?0001537	https://raresource.nih.gov/literature/gene/SLC12A6	9990	ENSG00000140199	10914	https://pubmed.ncbi.nlm.nih.gov/?term=SLC12A6	None	None	29529	162
SLC13A5	solute carrier family 13 member 5	Pyridoxine-dependent epilepsy?0009298;Amelocerebrohypohidrotic syndrome?0003128	https://raresource.nih.gov/literature/gene/SLC13A5	284111	ENSG00000141485	23089	https://pubmed.ncbi.nlm.nih.gov/?term=SLC13A5	None	None	8766	173
SLC16A1	solute carrier family 16 member 1	Exercise-induced hyperinsulinism?0009932	https://raresource.nih.gov/literature/gene/SLC16A1	6566	ENSG00000155380	10922	https://pubmed.ncbi.nlm.nih.gov/?term=SLC16A1	None	None	18117	2048
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	550
SLC17A9	solute carrier family 17 member 9	Disseminated superficial actinic porokeratosis?0010983	https://raresource.nih.gov/literature/gene/SLC17A9	63910	ENSG00000101194	16192	https://pubmed.ncbi.nlm.nih.gov/?term=SLC17A9	None	None	6035	122
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	1010
SLC18A3	solute carrier family 18 member A3	Fetal akinesia deformation sequence?0009634	https://raresource.nih.gov/literature/gene/SLC18A3	6572	ENSG00000187714	10936	https://pubmed.ncbi.nlm.nih.gov/?term=SLC18A3	None	None	1218	1060
SLC19A2	solute carrier family 19 member 2	Thiamine-responsive megaloblastic anemia syndrome?0009210	https://raresource.nih.gov/literature/gene/SLC19A2	10560	ENSG00000117479	10938	https://pubmed.ncbi.nlm.nih.gov/?term=SLC19A2	None	None	8606	2109
SLC19A3	solute carrier family 19 member 3	Biotin-thiamine-responsive basal ganglia disease?0010237	https://raresource.nih.gov/literature/gene/SLC19A3	80704	ENSG00000135917	16266	https://pubmed.ncbi.nlm.nih.gov/?term=SLC19A3	None	None	15717	184
SLC1A1	solute carrier family 1 member 1	Dicarboxylic aminoaciduria?0001855	https://raresource.nih.gov/literature/gene/SLC1A1	6505	ENSG00000106688	10939	https://pubmed.ncbi.nlm.nih.gov/?term=SLC1A1	None	None	43471	929
SLC1A3	solute carrier family 1 member 3	Alternating hemiplegia of childhood?0000011	https://raresource.nih.gov/literature/gene/SLC1A3	6507	ENSG00000079215	10941	https://pubmed.ncbi.nlm.nih.gov/?term=SLC1A3	None	None	31203	1526
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	167
SLC20A2	solute carrier family 20 member 2	Bilateral striopallidodentate calcinosis?0006406	https://raresource.nih.gov/literature/gene/SLC20A2	6575	ENSG00000168575	10947	https://pubmed.ncbi.nlm.nih.gov/?term=SLC20A2	None	None	48985	492
SLC22A12	solute carrier family 22 member 12	Hereditary renal hypouricemia?0009496	https://raresource.nih.gov/literature/gene/SLC22A12	116085	ENSG00000197891	17989	https://pubmed.ncbi.nlm.nih.gov/?term=SLC22A12	None	None	9392	710
SLC22A18	solute carrier family 22 member 18	Embryonal rhabdomyosarcoma?0004702	https://raresource.nih.gov/literature/gene/SLC22A18	5002	ENSG00000110628	10964	https://pubmed.ncbi.nlm.nih.gov/?term=SLC22A18	None	None	10766	258
SLC22A5	solute carrier family 22 member 5	Systemic primary carnitine deficiency?0005104	https://raresource.nih.gov/literature/gene/SLC22A5	6584	ENSG00000197375	10969	https://pubmed.ncbi.nlm.nih.gov/?term=SLC22A5	None	None	10815	657
SLC24A1	solute carrier family 24 member 1	Congenital stationary night blindness?0003995	https://raresource.nih.gov/literature/gene/SLC24A1	9187	ENSG00000074621	10975	https://pubmed.ncbi.nlm.nih.gov/?term=SLC24A1	None	None	10900	122
SLC24A4	solute carrier family 24 member 4	Hypomaturation amelogenesis imperfecta?0008349	https://raresource.nih.gov/literature/gene/SLC24A4	123041	ENSG00000140090	10978	https://pubmed.ncbi.nlm.nih.gov/?term=SLC24A4	None	None	42432	139
SLC25A11	solute carrier family 25 member 11	Hereditary pheochromocytoma-paraganglioma?0011984	https://raresource.nih.gov/literature/gene/SLC25A11	8402	ENSG00000108528	10981	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A11	None	None	1295	86
SLC25A13	solute carrier family 25 member 13	Citrullinemia type II?0010215;Neonatal intrahepatic cholestasis due to citrin deficiency?0010214	https://raresource.nih.gov/literature/gene/SLC25A13	10165	ENSG00000004864	10983	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A13	None	None	72966	368
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	366
SLC25A19	solute carrier family 25 member 19	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	362
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	281
SLC25A22	solute carrier family 25 member 22	Malignant migrating focal seizures of infancy?0012919;Early infantile epileptic encephalopathy?0009255	https://raresource.nih.gov/literature/gene/SLC25A22	79751	ENSG00000177542	19954	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A22	None	None	3721	272
SLC25A24	solute carrier family 25 member 24	Progeroid syndrome, Petty type?0004497;Gorlin-Chaudhry-Moss syndrome?0000066	https://raresource.nih.gov/literature/gene/SLC25A24	29957	ENSG00000085491	20662	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A24	None	None	25791	102
SLC25A4	solute carrier family 25 member 4	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome?0001142	https://raresource.nih.gov/literature/gene/SLC25A4	291	ENSG00000151729	10990	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A4	None	None	4140	2188
SLC25A46	solute carrier family 25 member 46	Pontocerebellar hypoplasia type 1?0010704	https://raresource.nih.gov/literature/gene/SLC25A46	91137	ENSG00000164209	25198	https://pubmed.ncbi.nlm.nih.gov/?term=SLC25A46	None	None	11424	52
SLC26A2	solute carrier family 26 member 2	Multiple epiphyseal dysplasia type 4?0009793;Atelosteogenesis type II?0008329;Diastrophic dysplasia?0006275	https://raresource.nih.gov/literature/gene/SLC26A2	1836	ENSG00000155850	10994	https://pubmed.ncbi.nlm.nih.gov/?term=SLC26A2	None	None	10902	396
SLC26A3	solute carrier family 26 member 3	Congenital chloride diarrhea?0010001	https://raresource.nih.gov/literature/gene/SLC26A3	1811	ENSG00000091138	3018	https://pubmed.ncbi.nlm.nih.gov/?term=SLC26A3	None	None	17211	677
SLC26A4	solute carrier family 26 member 4	Pendred syndrome?0004271;Thyroid hypoplasia?0008426	https://raresource.nih.gov/literature/gene/SLC26A4	5172	ENSG00000091137	8818	https://pubmed.ncbi.nlm.nih.gov/?term=SLC26A4	None	None	24301	1768
SLC26A9	solute carrier family 26 member 9	Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/SLC26A9	115019	ENSG00000174502	14469	https://pubmed.ncbi.nlm.nih.gov/?term=SLC26A9	None	None	13319	114
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	4
SLC29A3	solute carrier family 29 member 3	H syndrome?0010239;Dysosteosclerosis?0002012	https://raresource.nih.gov/literature/gene/SLC29A3	55315	ENSG00000198246	23096	https://pubmed.ncbi.nlm.nih.gov/?term=SLC29A3	None	None	23556	154
SLC2A1	solute carrier family 2 member 1	Paroxysmal exertion-induced dyskinesia?0010541;Myoclonic-astatic epilepsy?0002169;Classic glucose transporter type 1 deficiency syndrome?0009265	https://raresource.nih.gov/literature/gene/SLC2A1	6513	ENSG00000117394	11005	https://pubmed.ncbi.nlm.nih.gov/?term=SLC2A1	None	None	14701	9797
SLC2A10	solute carrier family 2 member 10	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	215
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	2012
SLC2A3	solute carrier family 2 member 3	Huntington disease?0006677	https://raresource.nih.gov/literature/gene/SLC2A3	6515	ENSG00000059804	11007	https://pubmed.ncbi.nlm.nih.gov/?term=SLC2A3	None	None	8830	1496
SLC2A9	solute carrier family 2 member 9	Hereditary renal hypouricemia?0009496	https://raresource.nih.gov/literature/gene/SLC2A9	56606	ENSG00000109667	13446	https://pubmed.ncbi.nlm.nih.gov/?term=SLC2A9	None	None	109743	605
SLC30A10	solute carrier family 30 member 10	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome?0010706	https://raresource.nih.gov/literature/gene/SLC30A10	55532	ENSG00000196660	25355	https://pubmed.ncbi.nlm.nih.gov/?term=SLC30A10	None	None	105173	625
SLC34A1	solute carrier family 34 member 1	Primary Fanconi renotubular syndrome?0009118	https://raresource.nih.gov/literature/gene/SLC34A1	6569	ENSG00000131183	11019	https://pubmed.ncbi.nlm.nih.gov/?term=SLC34A1	None	None	7147	290
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	339
SLC35A1	solute carrier family 35 member A1	SLC35A1-CDG?0012409	https://raresource.nih.gov/literature/gene/SLC35A1	10559	ENSG00000164414	11021	https://pubmed.ncbi.nlm.nih.gov/?term=SLC35A1	None	None	15531	555
SLC35A2	solute carrier family 35 member A2	SLC35A2-CDG?0012403	https://raresource.nih.gov/literature/gene/SLC35A2	7355	ENSG00000102100	11022	https://pubmed.ncbi.nlm.nih.gov/?term=SLC35A2	None	None	2163	2342
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	49
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	66
SLC37A4	solute carrier family 37 member 4	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib?0002515	https://raresource.nih.gov/literature/gene/SLC37A4	2542	ENSG00000137700	4061	https://pubmed.ncbi.nlm.nih.gov/?term=SLC37A4	None	None	3274	247
SLC39A4	solute carrier family 39 member 4	Acrodermatitis enteropathica?0005723	https://raresource.nih.gov/literature/gene/SLC39A4	55630	ENSG00000147804	17129	https://pubmed.ncbi.nlm.nih.gov/?term=SLC39A4	None	None	4002	307
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	1142
SLC46A1	solute carrier family 46 member 1	Hereditary folate malabsorption?0012983	https://raresource.nih.gov/literature/gene/SLC46A1	113235	ENSG00000076351	30521	https://pubmed.ncbi.nlm.nih.gov/?term=SLC46A1	None	None	2273	446
SLC49A4	solute carrier family 49 member 4	Hereditary clear cell renal cell carcinoma?0009571	https://raresource.nih.gov/literature/gene/SLC49A4	84925	ENSG00000138463	16628	https://pubmed.ncbi.nlm.nih.gov/?term=SLC49A4	None	None	27606	10
SLC4A1	solute carrier family 4 member 1 (Diego blood group)	Hereditary spherocytosis?0006639;Dehydrated hereditary stomatocytosis?0005623;Autosomal dominant distal renal tubular acidosis?0004668;Hereditary cryohydrocytosis with normal stomatin?0010184;Distal renal tubular acidosis with anemia?0012354	https://raresource.nih.gov/literature/gene/SLC4A1	6521	ENSG00000004939	11027	https://pubmed.ncbi.nlm.nih.gov/?term=SLC4A1	None	None	7948	4562
SLC4A11	solute carrier family 4 member 11	Congenital hereditary endothelial dystrophy type II?0006196;Corneal dystrophy-perceptive deafness syndrome?0001529;Fuchs endothelial corneal dystrophy?0010018	https://raresource.nih.gov/literature/gene/SLC4A11	83959	ENSG00000088836	16438	https://pubmed.ncbi.nlm.nih.gov/?term=SLC4A11	None	None	5694	226
SLC5A1	solute carrier family 5 member 1	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	1839
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	8825
SLC6A1	solute carrier family 6 member 1	Myoclonic-astatic epilepsy?0002169	https://raresource.nih.gov/literature/gene/SLC6A1	6529	ENSG00000157103	11042	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A1	None	None	19886	56
SLC6A14	solute carrier family 6 member 14	Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/SLC6A14	11254	ENSG00000268104	11047	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A14	None	None	4365	144
SLC6A18	solute carrier family 6 member 18	Iminoglycinuria?0008424	https://raresource.nih.gov/literature/gene/SLC6A18	348932	ENSG00000164363	26441	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A18	None	None	11019	26
SLC6A19	solute carrier family 6 member 19	Iminoglycinuria?0008424;Hartnup disease?0006569	https://raresource.nih.gov/literature/gene/SLC6A19	340024	ENSG00000174358	27960	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A19	None	None	11737	195
SLC6A2	solute carrier family 6 member 2	Postural orthostatic tachycardia syndrome due to NET deficiency?0013591	https://raresource.nih.gov/literature/gene/SLC6A2	6530	ENSG00000103546	11048	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A2	None	None	13153	2750
SLC6A20	solute carrier family 6 member 20	Iminoglycinuria?0008424	https://raresource.nih.gov/literature/gene/SLC6A20	54716	ENSG00000163817	30927	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A20	None	None	16101	145
SLC6A3	solute carrier family 6 member 3	Infantile dystonia-parkinsonism?0010484	https://raresource.nih.gov/literature/gene/SLC6A3	6531	ENSG00000142319	11049	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A3	None	None	24535	5717
SLC6A5	solute carrier family 6 member 5	Hereditary hyperekplexia?0003129	https://raresource.nih.gov/literature/gene/SLC6A5	9152	ENSG00000165970	11051	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A5	None	None	24778	514
SLC6A8	solute carrier family 6 member 8	X-linked creatine transporter deficiency?0001608	https://raresource.nih.gov/literature/gene/SLC6A8	6535	ENSG00000130821	11055	https://pubmed.ncbi.nlm.nih.gov/?term=SLC6A8	1	186	3800	1537
SLC7A14	solute carrier family 7 member 14	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/SLC7A14	57709	ENSG00000013293	29326	https://pubmed.ncbi.nlm.nih.gov/?term=SLC7A14	None	None	40046	21
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	283
SLC9A3	solute carrier family 9 member A3	Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/SLC9A3	6550	ENSG00000066230	11073	https://pubmed.ncbi.nlm.nih.gov/?term=SLC9A3	None	None	27149	1559
SLC9A6	solute carrier family 9 member A6	Christianson syndrome?0010572	https://raresource.nih.gov/literature/gene/SLC9A6	10479	ENSG00000198689	11079	https://pubmed.ncbi.nlm.nih.gov/?term=SLC9A6	None	None	12656	152
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	2013
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	929
SLCO2A1	solute carrier organic anion transporter family member 2A1	Pachydermoperiostosis?0007299	https://raresource.nih.gov/literature/gene/SLCO2A1	6578	ENSG00000174640	10955	https://pubmed.ncbi.nlm.nih.gov/?term=SLCO2A1	None	None	44807	381
SLITRK6	SLIT and NTRK like family member 6	High myopia-sensorineural deafness syndrome?0012844	https://raresource.nih.gov/literature/gene/SLITRK6	84189	ENSG00000184564	23503	https://pubmed.ncbi.nlm.nih.gov/?term=SLITRK6	None	None	5339	41
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	130
SLURP1	secreted LY6/PLAUR domain containing 1	Mal de Meleda?0000092	https://raresource.nih.gov/literature/gene/SLURP1	57152	ENSG00000126233	18746	https://pubmed.ncbi.nlm.nih.gov/?term=SLURP1	None	None	2756	1446
SLX4	SLX4 structure-specific endonuclease subunit	Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/SLX4	84464	ENSG00000188827	23845	https://pubmed.ncbi.nlm.nih.gov/?term=SLX4	None	None	11764	279
SMAD2	SMAD family member 2	Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/SMAD2	4087	ENSG00000175387	6768	https://pubmed.ncbi.nlm.nih.gov/?term=SMAD2	None	None	47401	8799
SMAD3	SMAD family member 3	Aneurysm-osteoarthritis syndrome?0010997;Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/SMAD3	4088	ENSG00000166949	6769	https://pubmed.ncbi.nlm.nih.gov/?term=SMAD3	None	None	33613	7774
SMAD4	SMAD family member 4	Myhre syndrome?0002572;Hereditary hemorrhagic telangiectasia?0006626;Familial thoracic aortic aneurysm and aortic dissection?0002249;Familial pancreatic carcinoma?0004206	https://raresource.nih.gov/literature/gene/SMAD4	4089	ENSG00000141646	6770	https://pubmed.ncbi.nlm.nih.gov/?term=SMAD4	None	None	22130	5555
SMARCA2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	Blepharophimosis-intellectual disability syndrome, Ohdo type?0003348;Nicolaides-Baraitser syndrome?0000270	https://raresource.nih.gov/literature/gene/SMARCA2	6595	ENSG00000080503	11098	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCA2	None	None	80628	1440
SMARCA4	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	Small cell carcinoma of the ovary?0010411;Coffin-Siris syndrome?0006124	https://raresource.nih.gov/literature/gene/SMARCA4	6597	ENSG00000127616	11100	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCA4	None	None	43226	2717
SMARCAD1	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	Huriez syndrome?0008517;Absence of fingerprints-congenital milia syndrome?0002336;Isolated congenital adermatoglyphia?0012550	https://raresource.nih.gov/literature/gene/SMARCAD1	56916	ENSG00000163104	18398	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCAD1	None	None	35398	98
SMARCAL1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 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	240
SMARCB1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	Schwannomatosis?0004768;Meningioma?0007015;Coffin-Siris syndrome?0006124	https://raresource.nih.gov/literature/gene/SMARCB1	6598	ENSG00000099956	11103	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCB1	None	None	21045	1940
SMARCC2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2	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	131
SMARCD1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	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	107
SMARCD2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	Recurrent infection due to specific granule deficiency?0010778	https://raresource.nih.gov/literature/gene/SMARCD2	6603	ENSG00000108604	11107	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCD2	None	None	4732	38
SMARCE1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	Meningioma?0007015;Coffin-Siris syndrome?0006124	https://raresource.nih.gov/literature/gene/SMARCE1	6605	ENSG00000073584	11109	https://pubmed.ncbi.nlm.nih.gov/?term=SMARCE1	None	None	7385	170
SMC1A	structural maintenance of chromosomes 1A	Atypical Rett syndrome?0004694;Cornelia 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	591
SMC3	structural maintenance of chromosomes 3	Cornelia 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	1054
SMCHD1	structural maintenance of chromosomes flexible hinge domain containing 1	Facioscapulohumeral dystrophy?0009941	https://raresource.nih.gov/literature/gene/SMCHD1	23347	ENSG00000101596	29090	https://pubmed.ncbi.nlm.nih.gov/?term=SMCHD1	None	None	44332	192
SMN1	survival of motor neuron 1, telomeric	Proximal spinal muscular atrophy type 2?0004945;Proximal spinal muscular atrophy type 1?0007883;Proximal spinal muscular atrophy type 3?0000198	https://raresource.nih.gov/literature/gene/SMN1	6606	ENSG00000172062	11117	https://pubmed.ncbi.nlm.nih.gov/?term=SMN1	None	None	5760	16614
SMN2	survival of motor neuron 2, centromeric	Proximal spinal muscular atrophy type 2?0004945;Proximal spinal muscular atrophy type 1?0007883;Proximal spinal muscular atrophy type 3?0000198	https://raresource.nih.gov/literature/gene/SMN2	6607	ENSG00000205571	11118	https://pubmed.ncbi.nlm.nih.gov/?term=SMN2	None	None	5224	1279
SMO	smoothened, frizzled class receptor	Meningioma?0007015;Hirschsprung disease?0006660;Curry-Jones syndrome?0005584	https://raresource.nih.gov/literature/gene/SMO	6608	ENSG00000128602	11119	https://pubmed.ncbi.nlm.nih.gov/?term=SMO	None	None	10499	29728
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	534
SMPD1	sphingomyelin phosphodiesterase 1	Infantile neurovisceral acid sphingomyelinase deficiency?0007206;Chronic visceral acid sphingomyelinase deficiency?0010729	https://raresource.nih.gov/literature/gene/SMPD1	6609	ENSG00000166311	11120	https://pubmed.ncbi.nlm.nih.gov/?term=SMPD1	None	None	3722	1655
SMS	spermine synthase	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	1325
SNAI2	snail family transcriptional repressor 2	Waardenburg syndrome type 2?0005520;Piebaldism?0004344	https://raresource.nih.gov/literature/gene/SNAI2	6591	ENSG00000019549	11094	https://pubmed.ncbi.nlm.nih.gov/?term=SNAI2	None	None	2975	3774
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	184
SNCA	synuclein alpha	Parkinsonian-pyramidal syndrome?0009175	https://raresource.nih.gov/literature/gene/SNCA	6622	ENSG00000145335	11138	https://pubmed.ncbi.nlm.nih.gov/?term=SNCA	None	None	51273	694
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	140
SNRNP200	small nuclear ribonucleoprotein U5 subunit 200	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/SNRNP200	23020	ENSG00000144028	30859	https://pubmed.ncbi.nlm.nih.gov/?term=SNRNP200	None	None	12658	144
SNRPB	small nuclear ribonucleoprotein polypeptides B and B1	Cerebrocostomandibular syndrome?0006026	https://raresource.nih.gov/literature/gene/SNRPB	6628	ENSG00000125835	11153	https://pubmed.ncbi.nlm.nih.gov/?term=SNRPB	None	None	3449	166
SNRPE	small nuclear ribonucleoprotein polypeptide E	Hypotrichosis simplex?0009170	https://raresource.nih.gov/literature/gene/SNRPE	6635	ENSG00000182004	11161	https://pubmed.ncbi.nlm.nih.gov/?term=SNRPE	None	None	5513	94
SNTA1	syntrophin alpha 1	Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/SNTA1	6640	ENSG00000101400	11167	https://pubmed.ncbi.nlm.nih.gov/?term=SNTA1	None	None	10513	86
SOD1	superoxide dismutase 1	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/SOD1	6647	ENSG00000142168	11179	https://pubmed.ncbi.nlm.nih.gov/?term=SOD1	None	None	3351	60867
SOHLH1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/SOHLH1	402381	ENSG00000165643	27845	https://pubmed.ncbi.nlm.nih.gov/?term=SOHLH1	None	None	4335	75
SON	SON DNA and RNA binding protein	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome?0013489	https://raresource.nih.gov/literature/gene/SON	6651	ENSG00000159140	11183	https://pubmed.ncbi.nlm.nih.gov/?term=SON	None	None	12591	523
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	547
SOS1	SOS Ras/Rac guanine nucleotide exchange factor 1	Fibromatosis, gingival, 1?0006509;Noonan syndrome?0010955	https://raresource.nih.gov/literature/gene/SOS1	6654	ENSG00000115904	11187	https://pubmed.ncbi.nlm.nih.gov/?term=SOS1	None	None	59194	13157
SOS2	SOS Ras/Rho guanine nucleotide exchange factor 2	Noonan syndrome?0010955	https://raresource.nih.gov/literature/gene/SOS2	6655	ENSG00000100485	11188	https://pubmed.ncbi.nlm.nih.gov/?term=SOS2	None	None	34165	318
SOST	sclerostin	Craniodiaphyseal dysplasia, autosomal dominant?0000249;Craniodiaphyseal dysplasia?0001567;Hyperostosis corticalis generalisata?0002833;Sclerosteosis?0004771	https://raresource.nih.gov/literature/gene/SOST	50964	ENSG00000167941	13771	https://pubmed.ncbi.nlm.nih.gov/?term=SOST	None	None	2314	2911
SOX10	SRY-box transcription factor 10	Waardenburg syndrome type 2?0005520;Waardenburg-Shah syndrome?0005524;Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/SOX10	6663	ENSG00000100146	11190	https://pubmed.ncbi.nlm.nih.gov/?term=SOX10	None	None	3264	2367
SOX11	SRY-box transcription factor 11	Coffin-Siris syndrome?0006124	https://raresource.nih.gov/literature/gene/SOX11	6664	ENSG00000176887	11191	https://pubmed.ncbi.nlm.nih.gov/?term=SOX11	None	None	7680	620
SOX18	SRY-box transcription factor 18	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome?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	249
SOX2	SRY-box transcription factor 2	Anophthalmia/microphthalmia-esophageal atresia syndrome?0001443;Colobomatous microphthalmia?0003644;Septo-optic dysplasia spectrum?0007627	https://raresource.nih.gov/literature/gene/SOX2	6657	ENSG00000181449	11195	https://pubmed.ncbi.nlm.nih.gov/?term=SOX2	None	None	3194	10113
SOX3	SRY-box transcription factor 3	46,XX testicular disorder of sex development?0000399;X-linked congenital generalized hypertrichosis?0002863;Septo-optic dysplasia spectrum?0007627;Panhypopituitarism, x-linked?0006737	https://raresource.nih.gov/literature/gene/SOX3	6658	ENSG00000134595	11199	https://pubmed.ncbi.nlm.nih.gov/?term=SOX3	None	None	1576	665
SOX4	SRY-box transcription factor 4	Coffin-Siris syndrome?0006124	https://raresource.nih.gov/literature/gene/SOX4	6659	ENSG00000124766	11200	https://pubmed.ncbi.nlm.nih.gov/?term=SOX4	None	None	4750	943
SOX9	SRY-box transcription factor 9	46,XX testicular disorder of sex development?0000399;46,XY complete gonadal dysgenesis?0005068;Campomelic dysplasia?0010027;Isolated Pierre Robin syndrome?0004347	https://raresource.nih.gov/literature/gene/SOX9	6662	ENSG00000125398	11204	https://pubmed.ncbi.nlm.nih.gov/?term=SOX9	None	None	3677	6408
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	106
SP7	Sp7 transcription factor	Osteogenesis imperfecta type 4?0008696	https://raresource.nih.gov/literature/gene/SP7	121340	ENSG00000170374	17321	https://pubmed.ncbi.nlm.nih.gov/?term=SP7	None	None	3240	3265
SPAG1	sperm associated antigen 1	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	95
SPARC	secreted protein acidic and cysteine rich	Osteogenesis imperfecta type 4?0008696	https://raresource.nih.gov/literature/gene/SPARC	6678	ENSG00000113140	11219	https://pubmed.ncbi.nlm.nih.gov/?term=SPARC	None	None	11042	2600
SPART	spartin	Autosomal recessive spastic paraplegia type 20?0005372	https://raresource.nih.gov/literature/gene/SPART	23111	ENSG00000133104	18514	https://pubmed.ncbi.nlm.nih.gov/?term=SPART	None	None	18115	90
SPAST	spastin	Autosomal dominant spastic paraplegia type 4?0004925	https://raresource.nih.gov/literature/gene/SPAST	6683	ENSG00000021574	11233	https://pubmed.ncbi.nlm.nih.gov/?term=SPAST	None	None	48620	162
SPATA16	spermatogenesis associated 16	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	46
SPATA7	spermatogenesis associated 7	Retinitis pigmentosa?0005694;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/SPATA7	55812	ENSG00000042317	20423	https://pubmed.ncbi.nlm.nih.gov/?term=SPATA7	None	None	None	75
SPECC1L	sperm antigen with calponin homology and coiled-coil domains 1 like	SPECC1L-related hypertelorism syndrome?0000957	https://raresource.nih.gov/literature/gene/SPECC1L	23384	ENSG00000100014	29022	https://pubmed.ncbi.nlm.nih.gov/?term=SPECC1L	None	None	42917	57
SPEF2	sperm flagellar 2	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	66
SPEG	striated muscle enriched protein kinase	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	173
SPEN	spen family transcriptional repressor	1p36 deletion syndrome?0006082	https://raresource.nih.gov/literature/gene/SPEN	23013	ENSG00000065526	17575	https://pubmed.ncbi.nlm.nih.gov/?term=SPEN	None	None	40316	269
SPG11	SPG11 vesicle trafficking associated, spatacsin	Autosomal recessive spastic paraplegia type 11?0004919;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	270
SPG7	SPG7 matrix AAA peptidase subunit, paraplegin	Primary lateral sclerosis?0010684;Spastic paraplegia type 7?0004927	https://raresource.nih.gov/literature/gene/SPG7	6687	ENSG00000197912	11237	https://pubmed.ncbi.nlm.nih.gov/?term=SPG7	None	None	26595	10918
SPIB	Spi-B transcription factor	Primary biliary cholangitis?0007459	https://raresource.nih.gov/literature/gene/SPIB	6689	ENSG00000269404	11242	https://pubmed.ncbi.nlm.nih.gov/?term=SPIB	None	None	4997	255
SPIDR	scaffold protein involved in DNA repair	46,XX gonadal dysgenesis?0005671	https://raresource.nih.gov/literature/gene/SPIDR	23514	ENSG00000164808	28971	https://pubmed.ncbi.nlm.nih.gov/?term=SPIDR	None	None	181961	22
SPINK1	serine peptidase inhibitor Kazal type 1	Hereditary chronic pancreatitis?0006632	https://raresource.nih.gov/literature/gene/SPINK1	6690	ENSG00000164266	11244	https://pubmed.ncbi.nlm.nih.gov/?term=SPINK1	None	None	3796	2958
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	1230
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	639
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	264
SPRED2	sprouty related EVH1 domain containing 2	Noonan syndrome?0010955	https://raresource.nih.gov/literature/gene/SPRED2	200734	ENSG00000198369	17722	https://pubmed.ncbi.nlm.nih.gov/?term=SPRED2	None	None	48227	111
SPRY4	sprouty RTK signaling antagonist 4	Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/SPRY4	81848	ENSG00000187678	15533	https://pubmed.ncbi.nlm.nih.gov/?term=SPRY4	None	None	7804	288
SPTA1	spectrin alpha, erythrocytic 1	Hereditary spherocytosis?0006639;Hereditary elliptocytosis?0006621	https://raresource.nih.gov/literature/gene/SPTA1	6708	ENSG00000163554	11272	https://pubmed.ncbi.nlm.nih.gov/?term=SPTA1	None	None	33676	450
SPTAN1	spectrin alpha, non-erythrocytic 1	Infantile spasms syndrome?0007887	https://raresource.nih.gov/literature/gene/SPTAN1	6709	ENSG00000197694	11273	https://pubmed.ncbi.nlm.nih.gov/?term=SPTAN1	None	None	34289	354
SPTB	spectrin beta, erythrocytic	Hereditary spherocytosis?0006639;Hereditary elliptocytosis?0006621	https://raresource.nih.gov/literature/gene/SPTB	6710	ENSG00000070182	11274	https://pubmed.ncbi.nlm.nih.gov/?term=SPTB	None	None	33475	34
SPTBN2	spectrin beta, non-erythrocytic 2	Spinocerebellar ataxia type 5?0004953	https://raresource.nih.gov/literature/gene/SPTBN2	6712	ENSG00000173898	11276	https://pubmed.ncbi.nlm.nih.gov/?term=SPTBN2	None	None	19224	120
SPTLC1	serine palmitoyltransferase long chain base subunit 1	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	242
SPTLC2	serine palmitoyltransferase long chain base subunit 2	Hereditary sensory and autonomic neuropathy type 1?0006635	https://raresource.nih.gov/literature/gene/SPTLC2	9517	ENSG00000100596	11278	https://pubmed.ncbi.nlm.nih.gov/?term=SPTLC2	None	None	31736	197
SQSTM1	sequestosome 1	Behavioral variant of frontotemporal dementia?0007392;Distal myopathy, Welander type?0005552;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/SQSTM1	8878	ENSG00000161011	11280	https://pubmed.ncbi.nlm.nih.gov/?term=SQSTM1	None	None	14677	11133
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	329
SRD5A2	steroid 5 alpha-reductase 2	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency?0005680;Familial prostate cancer?0004520	https://raresource.nih.gov/literature/gene/SRD5A2	6716	ENSG00000277893	11285	https://pubmed.ncbi.nlm.nih.gov/?term=SRD5A2	None	None	23544	595
SRD5A3	steroid 5 alpha-reductase 3	SRD5A3-CDG?0012397	https://raresource.nih.gov/literature/gene/SRD5A3	79644	ENSG00000128039	25812	https://pubmed.ncbi.nlm.nih.gov/?term=SRD5A3	None	None	12195	92
SREBF1	sterol regulatory element binding transcription factor 1	Hirschsprung disease?0006660	https://raresource.nih.gov/literature/gene/SREBF1	6720	ENSG00000072310	11289	https://pubmed.ncbi.nlm.nih.gov/?term=SREBF1	None	None	10742	2721
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	59
SRP54	signal recognition particle 54	Shwachman-Diamond syndrome?0004863;Autosomal dominant severe congenital neutropenia?0009558	https://raresource.nih.gov/literature/gene/SRP54	6729	ENSG00000100883	11301	https://pubmed.ncbi.nlm.nih.gov/?term=SRP54	None	None	22651	261
SRPX2	sushi repeat containing protein X-linked 2	Bilateral perisylvian polymicrogyria?0006011;Rolandic epilepsy?0010287	https://raresource.nih.gov/literature/gene/SRPX2	27286	ENSG00000102359	30668	https://pubmed.ncbi.nlm.nih.gov/?term=SRPX2	None	None	5756	327
SRSF2	serine and arginine rich splicing factor 2	Chronic myelomonocytic leukemia?0008225	https://raresource.nih.gov/literature/gene/SRSF2	6427	ENSG00000161547	10783	https://pubmed.ncbi.nlm.nih.gov/?term=SRSF2	None	None	1459	1154
SRY	sex determining region Y	46,XX testicular disorder of sex development?0000399;46,XY complete gonadal dysgenesis?0005068	https://raresource.nih.gov/literature/gene/SRY	6736	ENSG00000184895	11311	https://pubmed.ncbi.nlm.nih.gov/?term=SRY	None	None	337	4985
SS18	SS18 subunit of BAF chromatin remodeling complex	Synovial sarcoma?0007721	https://raresource.nih.gov/literature/gene/SS18	6760	ENSG00000141380	11340	https://pubmed.ncbi.nlm.nih.gov/?term=SS18	None	None	25833	386
SSR4	signal sequence receptor subunit 4	SSR4-CDG?0012405	https://raresource.nih.gov/literature/gene/SSR4	6748	ENSG00000180879	11326	https://pubmed.ncbi.nlm.nih.gov/?term=SSR4	None	None	1221	33
SSUH2	ssu-2 homolog	Dentin dysplasia type I?0001807	https://raresource.nih.gov/literature/gene/SSUH2	51066	ENSG00000125046	24809	https://pubmed.ncbi.nlm.nih.gov/?term=SSUH2	None	None	49296	8
SSX1	SSX family member 1	Synovial sarcoma?0007721	https://raresource.nih.gov/literature/gene/SSX1	6756	ENSG00000126752	11335	https://pubmed.ncbi.nlm.nih.gov/?term=SSX1	None	None	5769	301
SSX2	SSX family member 2	Synovial sarcoma?0007721	https://raresource.nih.gov/literature/gene/SSX2	6757	ENSG00000241476	11336	https://pubmed.ncbi.nlm.nih.gov/?term=SSX2	None	None	507	589
ST14	ST14 transmembrane serine protease matriptase	Ichthyosis-hypotrichosis syndrome?0010116	https://raresource.nih.gov/literature/gene/ST14	6768	ENSG00000149418	11344	https://pubmed.ncbi.nlm.nih.gov/?term=ST14	None	None	14240	381
ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	Infantile spasms syndrome?0007887	https://raresource.nih.gov/literature/gene/ST3GAL3	6487	ENSG00000126091	10866	https://pubmed.ncbi.nlm.nih.gov/?term=ST3GAL3	None	None	82584	131
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	255
STAC3	SH3 and cysteine rich domain 3	Native American myopathy?0008432	https://raresource.nih.gov/literature/gene/STAC3	246329	ENSG00000185482	28423	https://pubmed.ncbi.nlm.nih.gov/?term=STAC3	None	None	4022	443
STAR	steroidogenic acute regulatory protein	Familial glucocorticoid deficiency?0002498	https://raresource.nih.gov/literature/gene/STAR	6770	ENSG00000147465	11359	https://pubmed.ncbi.nlm.nih.gov/?term=STAR	None	None	4802	4379
STAT1	signal transducer and activator of transcription 1	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	10564
STAT3	signal transducer and activator of transcription 3	Isolated permanent neonatal diabetes mellitus?0010457;T-cell large granular lymphocyte leukemia?0009812;Autosomal dominant hyper-IgE syndrome?0006800;Acute promyelocytic leukemia?0000538	https://raresource.nih.gov/literature/gene/STAT3	6774	ENSG00000168610	11364	https://pubmed.ncbi.nlm.nih.gov/?term=STAT3	None	None	21703	32836
STAT4	signal transducer and activator of transcription 4	Behçet disease?0000848;Oligoarticular juvenile idiopathic arthritis?0004261;Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis?0003931	https://raresource.nih.gov/literature/gene/STAT4	6775	ENSG00000138378	11365	https://pubmed.ncbi.nlm.nih.gov/?term=STAT4	None	None	42678	1706
STAT5B	signal transducer and activator of transcription 5B	Acute promyelocytic leukemia?0000538	https://raresource.nih.gov/literature/gene/STAT5B	6777	ENSG00000173757	11367	https://pubmed.ncbi.nlm.nih.gov/?term=STAT5B	None	None	22491	6294
STIL	STIL centriolar assembly protein	Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/STIL	6491	ENSG00000123473	10879	https://pubmed.ncbi.nlm.nih.gov/?term=STIL	None	None	26902	390
STIM1	stromal interaction molecule 1	Tubular aggregate myopathy?0003884;Stormorken-Sjaastad-Langslet syndrome?0005188;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	2512
STING1	stimulator of interferon response cGAMP interactor 1	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	4682
STK11	serine/threonine kinase 11	Peutz-Jeghers syndrome?0007378	https://raresource.nih.gov/literature/gene/STK11	6794	ENSG00000118046	11389	https://pubmed.ncbi.nlm.nih.gov/?term=STK11	None	None	12989	3674
STK36	serine/threonine kinase 36	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	161
STN1	STN1 subunit of CST complex	Idiopathic pulmonary fibrosis?0008609	https://raresource.nih.gov/literature/gene/STN1	79991	ENSG00000107960	26200	https://pubmed.ncbi.nlm.nih.gov/?term=STN1	None	None	16099	266
STRA6	signaling receptor and transporter of retinol STRA6	Matthew-Wood syndrome?0000713;Colobomatous microphthalmia?0003644	https://raresource.nih.gov/literature/gene/STRA6	64220	ENSG00000137868	30650	https://pubmed.ncbi.nlm.nih.gov/?term=STRA6	None	None	9071	224
STRADA	STE20 related adaptor alpha	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome?0012913	https://raresource.nih.gov/literature/gene/STRADA	92335	ENSG00000266173	30172	https://pubmed.ncbi.nlm.nih.gov/?term=STRADA	None	None	11466	133
STRC	stereocilin	Deafness-infertility syndrome?0011911	https://raresource.nih.gov/literature/gene/STRC	161497	ENSG00000242866	16035	https://pubmed.ncbi.nlm.nih.gov/?term=STRC	None	None	5076	114
STS	steroid sulfatase	Recessive X-linked ichthyosis?0007904	https://raresource.nih.gov/literature/gene/STS	412	ENSG00000101846	11425	https://pubmed.ncbi.nlm.nih.gov/?term=STS	None	None	108578	5922
STX11	syntaxin 11	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	159
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	139
STX1A	syntaxin 1A	Williams syndrome?0007891;Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/STX1A	6804	ENSG00000106089	11433	https://pubmed.ncbi.nlm.nih.gov/?term=STX1A	None	None	8876	2190
STX3	syntaxin 3	Microvillus inclusion disease?0007039	https://raresource.nih.gov/literature/gene/STX3	6809	ENSG00000166900	11438	https://pubmed.ncbi.nlm.nih.gov/?term=STX3	None	None	33283	226
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	1555
STXBP2	syntaxin binding protein 2	Familial hemophagocytic lymphohistiocytosis?0006589	https://raresource.nih.gov/literature/gene/STXBP2	6813	ENSG00000076944	11445	https://pubmed.ncbi.nlm.nih.gov/?term=STXBP2	None	None	5908	174
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	1750
SUCLG1	succinate-CoA ligase GDP/ADP-forming subunit alpha	Fatal infantile lactic acidosis with methylmalonic aciduria?0003163	https://raresource.nih.gov/literature/gene/SUCLG1	8802	ENSG00000163541	11449	https://pubmed.ncbi.nlm.nih.gov/?term=SUCLG1	None	None	13926	561
SUFU	SUFU negative regulator of hedgehog signaling	Joubert syndrome?0006802;Meningioma?0007015;Gorlin syndrome?0007166	https://raresource.nih.gov/literature/gene/SUFU	51684	ENSG00000107882	16466	https://pubmed.ncbi.nlm.nih.gov/?term=SUFU	None	None	58635	456
SUGCT	succinyl-CoA:glutarate-CoA transferase	Glutaric acidemia type 3?0012469	https://raresource.nih.gov/literature/gene/SUGCT	79783	ENSG00000175600	16001	https://pubmed.ncbi.nlm.nih.gov/?term=SUGCT	None	None	262306	74
SULT2B1	sulfotransferase family 2B member 1	Lamellar ichthyosis?0010803	https://raresource.nih.gov/literature/gene/SULT2B1	6820	ENSG00000088002	11459	https://pubmed.ncbi.nlm.nih.gov/?term=SULT2B1	None	None	21427	136
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	183
SUOX	sulfite oxidase	Isolated 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	553
SUZ12	SUZ12 polycomb repressive complex 2 subunit	Endometrial stromal sarcoma?0006339;Weaver syndrome?0007878	https://raresource.nih.gov/literature/gene/SUZ12	23512	ENSG00000178691	17101	https://pubmed.ncbi.nlm.nih.gov/?term=SUZ12	None	None	25241	680
SYCE1	synaptonemal complex central element protein 1	Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/SYCE1	93426	ENSG00000171772	28852	https://pubmed.ncbi.nlm.nih.gov/?term=SYCE1	None	None	7601	53
SYCP3	synaptonemal complex protein 3	Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/SYCP3	50511	ENSG00000139351	18130	https://pubmed.ncbi.nlm.nih.gov/?term=SYCP3	None	None	3963	601
SYNE1	spectrin repeat containing nuclear envelope protein 1	Autosomal recessive ataxia, Beauce type?0012234	https://raresource.nih.gov/literature/gene/SYNE1	23345	ENSG00000131018	17089	https://pubmed.ncbi.nlm.nih.gov/?term=SYNE1	None	None	238504	465
SYNGAP1	synaptic Ras GTPase activating protein 1	Autosomal dominant non-syndromic intellectual disability?0012107;Myoclonic-astatic epilepsy?0002169;Intellectual developmental disorder, 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	573
SZT2	SZT2 subunit of KICSTOR complex	Developmental and epileptic encephalopathy 18?0013676	https://raresource.nih.gov/literature/gene/SZT2	23334	ENSG00000198198	29040	https://pubmed.ncbi.nlm.nih.gov/?term=SZT2	None	None	26660	44
TACC1	transforming acidic coiled-coil containing protein 1	Gliosarcoma?0005653	https://raresource.nih.gov/literature/gene/TACC1	6867	ENSG00000147526	11522	https://pubmed.ncbi.nlm.nih.gov/?term=TACC1	None	None	45185	204
TACC3	transforming acidic coiled-coil containing protein 3	Gliosarcoma?0005653	https://raresource.nih.gov/literature/gene/TACC3	10460	ENSG00000013810	11524	https://pubmed.ncbi.nlm.nih.gov/?term=TACC3	None	None	12406	15
TACR3	tachykinin receptor 3	Kallmann syndrome?0010771	https://raresource.nih.gov/literature/gene/TACR3	6870	ENSG00000169836	11528	https://pubmed.ncbi.nlm.nih.gov/?term=TACR3	None	None	60242	2141
TACSTD2	tumor associated calcium signal transducer 2	Gelatinous drop-like corneal dystrophy?0009647	https://raresource.nih.gov/literature/gene/TACSTD2	4070	ENSG00000184292	11530	https://pubmed.ncbi.nlm.nih.gov/?term=TACSTD2	None	None	2553	610
TAF1	TATA-box binding protein associated factor 1	X-linked dystonia-parkinsonism?0010533	https://raresource.nih.gov/literature/gene/TAF1	6872	ENSG00000147133	11535	https://pubmed.ncbi.nlm.nih.gov/?term=TAF1	None	None	37328	1274
TAF13	TATA-box binding protein associated factor 13	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	19
TAF15	TATA-box binding protein associated factor 15	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/TAF15	8148	ENSG00000270647	11547	https://pubmed.ncbi.nlm.nih.gov/?term=TAF15	None	None	16145	306
TAF1A	TATA-box binding protein associated factor, RNA polymerase I subunit A	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/TAF1A	9015	ENSG00000143498	11532	https://pubmed.ncbi.nlm.nih.gov/?term=TAF1A	None	None	11763	205
TAF4B	TATA-box binding protein associated factor 4b	Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/TAF4B	6875	ENSG00000141384	11538	https://pubmed.ncbi.nlm.nih.gov/?term=TAF4B	None	None	44241	75
TAFAZZIN	tafazzin, phospholipid-lysophospholipid transacylase	Familial isolated dilated cardiomyopathy?0002905;Barth syndrome?0005890	https://raresource.nih.gov/literature/gene/TAFAZZIN	6901	ENSG00000102125	11577	https://pubmed.ncbi.nlm.nih.gov/?term=TAFAZZIN	None	None	None	622
TALDO1	transaldolase 1	Transaldolase deficiency?0010445	https://raresource.nih.gov/literature/gene/TALDO1	6888	ENSG00000177156	11559	https://pubmed.ncbi.nlm.nih.gov/?term=TALDO1	None	None	10359	824
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	45
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	124
TAP1	transporter 1, ATP binding cassette subfamily B member	Immunodeficiency by defective expression of MHC class I?0008427	https://raresource.nih.gov/literature/gene/TAP1	6890	ENSG00000168394	43	https://pubmed.ncbi.nlm.nih.gov/?term=TAP1	None	None	3455	1313
TAP2	transporter 2, ATP binding cassette subfamily B member	Immunodeficiency by defective expression of MHC class I?0008427	https://raresource.nih.gov/literature/gene/TAP2	6891	ENSG00000204267	44	https://pubmed.ncbi.nlm.nih.gov/?term=TAP2	None	None	7125	858
TAPBP	TAP binding protein	Immunodeficiency by defective expression of MHC class I?0008427	https://raresource.nih.gov/literature/gene/TAPBP	6892	ENSG00000231925	11566	https://pubmed.ncbi.nlm.nih.gov/?term=TAPBP	None	None	6247	607
TARDBP	TAR DNA binding protein	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/TARDBP	23435	ENSG00000120948	11571	https://pubmed.ncbi.nlm.nih.gov/?term=TARDBP	None	None	6824	4541
TARS1	threonyl-tRNA synthetase 1	Trichothiodystrophy?0012109	https://raresource.nih.gov/literature/gene/TARS1	6897	ENSG00000113407	11572	https://pubmed.ncbi.nlm.nih.gov/?term=TARS1	None	None	12956	136
TAT	tyrosine aminotransferase	Tyrosinemia type 2?0003105	https://raresource.nih.gov/literature/gene/TAT	6898	ENSG00000198650	11573	https://pubmed.ncbi.nlm.nih.gov/?term=TAT	None	None	5241	12717
TBC1D20	TBC1 domain family member 20	Micro syndrome?0005534	https://raresource.nih.gov/literature/gene/TBC1D20	128637	ENSG00000125875	16133	https://pubmed.ncbi.nlm.nih.gov/?term=TBC1D20	None	None	8896	32
TBC1D24	TBC1 domain family member 24	DOORS syndrome?0001685;Malignant migrating focal seizures of infancy?0012919	https://raresource.nih.gov/literature/gene/TBC1D24	57465	ENSG00000162065	29203	https://pubmed.ncbi.nlm.nih.gov/?term=TBC1D24	None	None	7429	202
TBC1D8B	TBC1 domain family member 8B	Genetic steroid-resistant nephrotic syndrome?0003946	https://raresource.nih.gov/literature/gene/TBC1D8B	54885	ENSG00000133138	24715	https://pubmed.ncbi.nlm.nih.gov/?term=TBC1D8B	None	None	13179	12
TBCE	tubulin folding cofactor E	Sanjad-Sakati syndrome?0000411;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	318
TBK1	TANK binding kinase 1	Herpes simplex virus encephalitis?0006649;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/TBK1	29110	ENSG00000183735	11584	https://pubmed.ncbi.nlm.nih.gov/?term=TBK1	None	None	13178	2393
TBL1XR1	TBL1X receptor 1	Acute promyelocytic leukemia?0000538	https://raresource.nih.gov/literature/gene/TBL1XR1	79718	ENSG00000177565	29529	https://pubmed.ncbi.nlm.nih.gov/?term=TBL1XR1	None	None	84608	333
TBL2	transducin beta like 2	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/TBL2	26608	ENSG00000106638	11586	https://pubmed.ncbi.nlm.nih.gov/?term=TBL2	None	None	6003	34
TBP	TATA-box binding protein	Spinocerebellar ataxia type 17?0010469	https://raresource.nih.gov/literature/gene/TBP	6908	ENSG00000112592	11588	https://pubmed.ncbi.nlm.nih.gov/?term=TBP	None	None	7972	3945
TBR1	T-box brain transcription factor 1	2q24 microdeletion syndrome?0003746	https://raresource.nih.gov/literature/gene/TBR1	10716	ENSG00000136535	11590	https://pubmed.ncbi.nlm.nih.gov/?term=TBR1	None	None	5503	321
TBX1	T-box transcription factor 1	22q11.2 deletion syndrome?0010299;Tetralogy of Fallot?0002245;22q11.2 duplication syndrome?0010557	https://raresource.nih.gov/literature/gene/TBX1	6899	ENSG00000184058	11592	https://pubmed.ncbi.nlm.nih.gov/?term=TBX1	None	None	9444	1895
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	113
TBX19	T-box transcription factor 19	Congenital isolated ACTH deficiency?0005727	https://raresource.nih.gov/literature/gene/TBX19	9095	ENSG00000143178	11596	https://pubmed.ncbi.nlm.nih.gov/?term=TBX19	None	None	13608	166
TBX20	T-box transcription factor 20	Atrial septal defect, ostium secundum type?0005865	https://raresource.nih.gov/literature/gene/TBX20	57057	ENSG00000164532	11598	https://pubmed.ncbi.nlm.nih.gov/?term=TBX20	None	None	18184	228
TBX22	T-box transcription factor 22	X-linked cleft palate and ankyloglossia?0001394;Abruzzo-Erickson syndrome?0000360	https://raresource.nih.gov/literature/gene/TBX22	50945	ENSG00000122145	11600	https://pubmed.ncbi.nlm.nih.gov/?term=TBX22	None	None	4445	464
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	597
TBX4	T-box transcription factor 4	17q23.1q23.2 microdeletion syndrome?0010936;Coxopodopatellar syndrome?0003030	https://raresource.nih.gov/literature/gene/TBX4	9496	ENSG00000121075	11603	https://pubmed.ncbi.nlm.nih.gov/?term=TBX4	None	None	9522	174
TBX5	T-box transcription factor 5	Holt-Oram syndrome?0006666;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/TBX5	6910	ENSG00000089225	11604	https://pubmed.ncbi.nlm.nih.gov/?term=TBX5	None	None	16253	1113
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	3609
TBXT	T-box transcription factor T	Chordoma?0001303	https://raresource.nih.gov/literature/gene/TBXT	6862	ENSG00000164458	11515	https://pubmed.ncbi.nlm.nih.gov/?term=TBXT	None	None	6019	5688
TCAP	titin-cap	Familial isolated dilated cardiomyopathy?0002905;Telethonin-related limb-girdle muscular dystrophy R7?0010471	https://raresource.nih.gov/literature/gene/TCAP	8557	ENSG00000173991	11610	https://pubmed.ncbi.nlm.nih.gov/?term=TCAP	None	None	933	257
TCF3	transcription factor 3	Autosomal agammaglobulinemia?0009640	https://raresource.nih.gov/literature/gene/TCF3	6929	ENSG00000071564	11633	https://pubmed.ncbi.nlm.nih.gov/?term=TCF3	None	None	25745	4588
TCF4	transcription factor 4	Autosomal dominant non-syndromic intellectual disability?0012107;Pitt-Hopkins syndrome?0004372;Primary sclerosing cholangitis?0001280;Fuchs endothelial corneal dystrophy?0010018	https://raresource.nih.gov/literature/gene/TCF4	6925	ENSG00000196628	11634	https://pubmed.ncbi.nlm.nih.gov/?term=TCF4	None	None	96324	2382
TCIRG1	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	Osteopetrosis, autosomal recessive 1?0002579;Autosomal dominant severe congenital neutropenia?0009558;Intermediate osteopetrosis?0004156;Dysosteosclerosis?0002012	https://raresource.nih.gov/literature/gene/TCIRG1	10312	ENSG00000110719	11647	https://pubmed.ncbi.nlm.nih.gov/?term=TCIRG1	None	None	6735	15
TCOF1	treacle ribosome biogenesis factor 1	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	428
TCTN1	tectonic family member 1	Joubert syndrome?0006802;Meckel syndrome?0003436	https://raresource.nih.gov/literature/gene/TCTN1	79600	ENSG00000204852	26113	https://pubmed.ncbi.nlm.nih.gov/?term=TCTN1	None	None	8888	35
TCTN2	tectonic family member 2	Joubert syndrome?0006802;Meckel syndrome?0003436	https://raresource.nih.gov/literature/gene/TCTN2	79867	ENSG00000168778	25774	https://pubmed.ncbi.nlm.nih.gov/?term=TCTN2	None	None	11652	29
TCTN3	tectonic family member 3	Meckel syndrome?0003436;Orofaciodigital syndrome type 4?0000816;Orofaciodigital syndrome type 6?0004412	https://raresource.nih.gov/literature/gene/TCTN3	26123	ENSG00000119977	24519	https://pubmed.ncbi.nlm.nih.gov/?term=TCTN3	None	None	13220	18
TDO2	tryptophan 2,3-dioxygenase	Hypertryptophanemia?0002871	https://raresource.nih.gov/literature/gene/TDO2	6999	ENSG00000151790	11708	https://pubmed.ncbi.nlm.nih.gov/?term=TDO2	None	None	22089	2968
TDP1	tyrosyl-DNA phosphodiesterase 1	Spinocerebellar ataxia with axonal neuropathy type 1?0010000	https://raresource.nih.gov/literature/gene/TDP1	55775	ENSG00000042088	18884	https://pubmed.ncbi.nlm.nih.gov/?term=TDP1	None	None	22847	367
TDRD9	tudor domain containing 9	Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/TDRD9	122402	ENSG00000156414	20122	https://pubmed.ncbi.nlm.nih.gov/?term=TDRD9	None	None	43605	58
TECPR2	tectonin beta-propeller repeat containing 2	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation?0013568	https://raresource.nih.gov/literature/gene/TECPR2	9895	ENSG00000196663	19957	https://pubmed.ncbi.nlm.nih.gov/?term=TECPR2	None	None	39357	46
TECRL	trans-2,3-enoyl-CoA reductase like	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	67
TEK	TEK receptor tyrosine kinase	Congenital glaucoma?0002485;Blue rubber bleb nevus?0005940	https://raresource.nih.gov/literature/gene/TEK	7010	ENSG00000120156	11724	https://pubmed.ncbi.nlm.nih.gov/?term=TEK	None	None	53878	3328
TENM1	teneurin transmembrane protein 1	Isolated congenital anosmia?0009486	https://raresource.nih.gov/literature/gene/TENM1	10178	ENSG00000009694	8117	https://pubmed.ncbi.nlm.nih.gov/?term=TENM1	None	None	93522	249
TENM3	teneurin transmembrane protein 3	Colobomatous microphthalmia?0003644	https://raresource.nih.gov/literature/gene/TENM3	55714	ENSG00000218336	29944	https://pubmed.ncbi.nlm.nih.gov/?term=TENM3	None	None	235928	78
TENT5A	terminal nucleotidyltransferase 5A	Osteogenesis imperfecta type 3?0008695	https://raresource.nih.gov/literature/gene/TENT5A	55603	ENSG00000112773	18345	https://pubmed.ncbi.nlm.nih.gov/?term=TENT5A	None	None	4720	45
TERC	telomerase RNA component	Dyskeratosis congenita, autosomal dominant 1?0006299;Dyskeratosis congenita?0010905;Idiopathic pulmonary fibrosis?0008609;Idiopathic aplastic anemia?0005836	https://raresource.nih.gov/literature/gene/TERC	7012	ENSG00000270141	11727	https://pubmed.ncbi.nlm.nih.gov/?term=TERC	None	None	23	4648
TERF2IP	TERF2 interacting protein	Familial melanoma?0003460	https://raresource.nih.gov/literature/gene/TERF2IP	54386	ENSG00000166848	19246	https://pubmed.ncbi.nlm.nih.gov/?term=TERF2IP	None	None	31902	2581
TERT	telomerase reverse transcriptase	Idiopathic pulmonary fibrosis?0008609;Dyskeratosis congenita?0010905;Idiopathic aplastic anemia?0005836;Meningioma?0007015;Hoyeraal-Hreidarsson syndrome?0000346;Familial melanoma?0003460;Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/TERT	7015	ENSG00000164362	11730	https://pubmed.ncbi.nlm.nih.gov/?term=TERT	None	None	35311	19424
TET2	tet methylcytosine dioxygenase 2	Essential thrombocythemia?0006594;Polycythemia vera?0007422;Acute myeloid leukaemia with myelodysplasia-related features?0012761;Primary myelofibrosis?0008618;Acquired idiopathic sideroblastic anemia?0008249	https://raresource.nih.gov/literature/gene/TET2	54790	ENSG00000168769	25941	https://pubmed.ncbi.nlm.nih.gov/?term=TET2	None	None	57838	2824
TEX11	testis expressed 11	Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/TEX11	56159	ENSG00000120498	11733	https://pubmed.ncbi.nlm.nih.gov/?term=TEX11	None	None	73367	279
TEX14	testis expressed 14, intercellular bridge forming factor	Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/TEX14	56155	ENSG00000121101	11737	https://pubmed.ncbi.nlm.nih.gov/?term=TEX14	None	None	49207	59
TEX15	testis expressed 15, meiosis and synapsis associated	Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/TEX15	56154	ENSG00000133863	11738	https://pubmed.ncbi.nlm.nih.gov/?term=TEX15	None	None	34815	34
TF	transferrin	Congenital atransferrinemia?0009595	https://raresource.nih.gov/literature/gene/TF	7018	ENSG00000091513	11740	https://pubmed.ncbi.nlm.nih.gov/?term=TF	None	None	14348	32447
TFAP2A	transcription factor AP-2 alpha	Branchio-oculo-facial syndrome?0003212	https://raresource.nih.gov/literature/gene/TFAP2A	7020	ENSG00000137203	11742	https://pubmed.ncbi.nlm.nih.gov/?term=TFAP2A	None	None	11771	2329
TFAP2B	transcription factor AP-2 beta	Char syndrome?0001237	https://raresource.nih.gov/literature/gene/TFAP2B	7021	ENSG00000008196	11743	https://pubmed.ncbi.nlm.nih.gov/?term=TFAP2B	None	None	12950	257
TFE3	transcription factor binding to IGHM enhancer 3	Alveolar soft tissue sarcoma?0005654	https://raresource.nih.gov/literature/gene/TFE3	7030	ENSG00000068323	11752	https://pubmed.ncbi.nlm.nih.gov/?term=TFE3	None	None	5351	1230
TFG	trafficking from ER to golgi regulator	Hereditary motor and sensory neuropathy, Okinawa type?0010131;Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/TFG	10342	ENSG00000114354	11758	https://pubmed.ncbi.nlm.nih.gov/?term=TFG	None	None	15965	430
TFR2	transferrin receptor 2	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	541
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	35
TGFB1	transforming growth factor beta 1	Cystic fibrosis?0006233;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	27391
TGFB2	transforming growth factor beta 2	Loeys-dietz syndrome 4?0010588;Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/TGFB2	7042	ENSG00000092969	11768	https://pubmed.ncbi.nlm.nih.gov/?term=TGFB2	None	None	38403	1998
TGFB3	transforming growth factor beta 3	Loeys-dietz syndrome 5?0012356;Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/TGFB3	7043	ENSG00000119699	11769	https://pubmed.ncbi.nlm.nih.gov/?term=TGFB3	None	None	6391	1195
TGFBI	transforming growth factor beta induced	Reis-Bücklers corneal dystrophy?0009276;Corneal dystrophy, lattice type iiia?0010320;Granular corneal dystrophy type II?0009278;Granular corneal dystrophy type I?0009677;Lattice corneal dystrophy type I?0009678;Epithelial basement membrane dystrophy?0009732;Thiel-Behnke corneal dystrophy?0009275	https://raresource.nih.gov/literature/gene/TGFBI	7045	ENSG00000120708	11771	https://pubmed.ncbi.nlm.nih.gov/?term=TGFBI	None	None	13856	1208
TGFBR1	transforming growth factor beta receptor 1	Multiple self-healing squamous epithelioma?0003090;Loeys-Dietz syndrome?0010788;Loeys-dietz syndrome 1?0009458;Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/TGFBR1	7046	ENSG00000106799	11772	https://pubmed.ncbi.nlm.nih.gov/?term=TGFBR1	None	None	20137	2251
TGFBR2	transforming growth factor beta receptor 2	Loeys-Dietz syndrome?0010788;Loeys-dietz syndrome 2?0010586;Lynch syndrome?0009905;Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/TGFBR2	7048	ENSG00000163513	11773	https://pubmed.ncbi.nlm.nih.gov/?term=TGFBR2	None	None	40361	1951
TGM1	transglutaminase 1	Congenital non-bullous ichthyosiform erythroderma?0009736;Lamellar ichthyosis?0010803;Ichthyosis, congenital, autosomal recessive 1?0003170	https://raresource.nih.gov/literature/gene/TGM1	7051	ENSG00000092295	11777	https://pubmed.ncbi.nlm.nih.gov/?term=TGM1	None	None	5091	1437
TGM3	transglutaminase 3	Uncombable hair syndrome?0005404	https://raresource.nih.gov/literature/gene/TGM3	7053	ENSG00000125780	11779	https://pubmed.ncbi.nlm.nih.gov/?term=TGM3	None	None	17	181
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	110
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	21990
THAP1	THAP domain containing 1	Primary dystonia, DYT6 type?0009630	https://raresource.nih.gov/literature/gene/THAP1	55145	ENSG00000131931	20856	https://pubmed.ncbi.nlm.nih.gov/?term=THAP1	None	None	4284	230
THPO	thrombopoietin	Congenital amegakaryocytic thrombocytopenia?0000640	https://raresource.nih.gov/literature/gene/THPO	7066	ENSG00000090534	11795	https://pubmed.ncbi.nlm.nih.gov/?term=THPO	None	None	3269	5952
TIA1	TIA1 cytotoxic granule associated RNA binding protein	Distal myopathy, Welander type?0005552	https://raresource.nih.gov/literature/gene/TIA1	7072	ENSG00000116001	11802	https://pubmed.ncbi.nlm.nih.gov/?term=TIA1	None	None	18441	1086
TICAM1	toll like receptor adaptor molecule 1	Herpes simplex virus encephalitis?0006649	https://raresource.nih.gov/literature/gene/TICAM1	148022	ENSG00000127666	18348	https://pubmed.ncbi.nlm.nih.gov/?term=TICAM1	None	None	8182	1984
TIMM8A	translocase of inner mitochondrial membrane 8A	Mohr-Tranebjaerg syndrome?0008331	https://raresource.nih.gov/literature/gene/TIMM8A	1678	ENSG00000126953	11817	https://pubmed.ncbi.nlm.nih.gov/?term=TIMM8A	None	None	1165	1342
TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/TIMMDC1	51300	ENSG00000113845	1321	https://pubmed.ncbi.nlm.nih.gov/?term=TIMMDC1	None	None	9378	27
TIMP3	TIMP metallopeptidase inhibitor 3	Sorsby fundus dystrophy?0010511	https://raresource.nih.gov/literature/gene/TIMP3	7078	ENSG00000100234	11822	https://pubmed.ncbi.nlm.nih.gov/?term=TIMP3	None	None	345	2342
TINF2	TERF1 interacting nuclear factor 2	Revesz syndrome?0004695;Dyskeratosis congenita?0010905;Hoyeraal-Hreidarsson syndrome?0000346	https://raresource.nih.gov/literature/gene/TINF2	26277	ENSG00000092330	11824	https://pubmed.ncbi.nlm.nih.gov/?term=TINF2	None	None	2278	263
TJP2	tight junction protein 2	Progressive familial intrahepatic cholestasis type 4?0009803	https://raresource.nih.gov/literature/gene/TJP2	9414	ENSG00000119139	11828	https://pubmed.ncbi.nlm.nih.gov/?term=TJP2	None	None	7598	195
TK2	thymidine kinase 2	Autosomal recessive progressive external ophthalmoplegia?0001191	https://raresource.nih.gov/literature/gene/TK2	7084	ENSG00000166548	11831	https://pubmed.ncbi.nlm.nih.gov/?term=TK2	None	None	11406	368
TKFC	triokinase and FMN cyclase	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome?0001142	https://raresource.nih.gov/literature/gene/TKFC	26007	ENSG00000149476	24552	https://pubmed.ncbi.nlm.nih.gov/?term=TKFC	None	None	6314	97
TLCD3B	TLC domain containing 3B	Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/TLCD3B	83723	ENSG00000149926	25295	https://pubmed.ncbi.nlm.nih.gov/?term=TLCD3B	None	None	5104	503
TLL1	tolloid like 1	Atrial septal defect, ostium secundum type?0005865;Atrial septal defect, ostium primum type?0010695	https://raresource.nih.gov/literature/gene/TLL1	7092	ENSG00000038295	11843	https://pubmed.ncbi.nlm.nih.gov/?term=TLL1	None	None	89582	278
TLR3	toll like receptor 3	Herpes simplex virus encephalitis?0006649	https://raresource.nih.gov/literature/gene/TLR3	7098	ENSG00000164342	11849	https://pubmed.ncbi.nlm.nih.gov/?term=TLR3	None	None	8349	5634
TLR4	toll like receptor 4	Behçet disease?0000848	https://raresource.nih.gov/literature/gene/TLR4	7099	ENSG00000136869	11850	https://pubmed.ncbi.nlm.nih.gov/?term=TLR4	None	None	4720	34085
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	143
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	89
TMCO1	transmembrane and coiled-coil domains 1	Cerebrofaciothoracic dysplasia?0001210	https://raresource.nih.gov/literature/gene/TMCO1	54499	ENSG00000143183	18188	https://pubmed.ncbi.nlm.nih.gov/?term=TMCO1	None	None	41174	66
TMEM106B	transmembrane protein 106B	Behavioral variant of frontotemporal dementia?0007392;Progressive non-fluent aphasia?0010793;Semantic dementia?0010792	https://raresource.nih.gov/literature/gene/TMEM106B	54664	ENSG00000106460	22407	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM106B	None	None	14697	208
TMEM107	transmembrane protein 107	Meckel syndrome?0003436	https://raresource.nih.gov/literature/gene/TMEM107	84314	ENSG00000179029	28128	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM107	None	None	3973	18
TMEM126B	transmembrane protein 126B	Isolated complex I deficiency?0003908	https://raresource.nih.gov/literature/gene/TMEM126B	55863	ENSG00000171204	30883	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM126B	None	None	2627	18
TMEM127	transmembrane protein 127	Hereditary pheochromocytoma-paraganglioma?0011984	https://raresource.nih.gov/literature/gene/TMEM127	55654	ENSG00000135956	26038	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM127	None	None	7304	133
TMEM138	transmembrane protein 138	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	14
TMEM165	transmembrane protein 165	TMEM165-CDG?0012413	https://raresource.nih.gov/literature/gene/TMEM165	55858	ENSG00000134851	30760	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM165	None	None	16599	69
TMEM216	transmembrane protein 216	Meckel syndrome, type 2?0008743;Meckel syndrome?0003436;Joubert syndrome 2?0010167;Orofaciodigital syndrome type 6?0004412;Joubert syndrome with oculorenal defect?0009455	https://raresource.nih.gov/literature/gene/TMEM216	51259	ENSG00000187049	25018	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM216	None	None	3847	22
TMEM231	transmembrane protein 231	Orofaciodigital syndrome type 3?0010518;Meckel syndrome?0003436;Joubert syndrome with oculorenal defect?0009455	https://raresource.nih.gov/literature/gene/TMEM231	79583	ENSG00000205084	37234	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM231	None	None	6899	17
TMEM237	transmembrane protein 237	Joubert syndrome?0006802;Meckel syndrome?0003436;Joubert syndrome with oculorenal defect?0009455;Joubert syndrome with renal defect?0010169	https://raresource.nih.gov/literature/gene/TMEM237	65062	ENSG00000155755	14432	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM237	None	None	8686	16
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	19
TMEM270	transmembrane protein 270	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/TMEM270	135886	ENSG00000175877	23018	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM270	None	None	4001	4
TMEM38B	transmembrane protein 38B	Osteogenesis imperfecta type 4?0008696	https://raresource.nih.gov/literature/gene/TMEM38B	55151	ENSG00000095209	25535	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM38B	None	None	32952	64
TMEM67	transmembrane protein 67	Meckel syndrome?0003436;Joubert syndrome with hepatic defect?0001410;RHYNS syndrome?0009681;Joubert syndrome?0006802;Meckel syndrome, type 3?0008744	https://raresource.nih.gov/literature/gene/TMEM67	91147	ENSG00000164953	28396	https://pubmed.ncbi.nlm.nih.gov/?term=TMEM67	None	None	25674	131
TMPO	thymopoietin	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/TMPO	7112	ENSG00000120802	11875	https://pubmed.ncbi.nlm.nih.gov/?term=TMPO	None	None	15221	2199
TMPRSS6	transmembrane serine protease 6	IRIDA syndrome?0010957	https://raresource.nih.gov/literature/gene/TMPRSS6	164656	ENSG00000187045	16517	https://pubmed.ncbi.nlm.nih.gov/?term=TMPRSS6	None	None	16582	1325
TMTC3	transmembrane O-mannosyltransferase targeting cadherins 3	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	52
TNFRSF11A	TNF receptor superfamily member 11a	Juvenile Paget disease?0002831;Familial expansile osteolysis?0009168;Dysosteosclerosis?0002012;Osteopetrosis-hypogammaglobulinemia syndrome?0010106	https://raresource.nih.gov/literature/gene/TNFRSF11A	8792	ENSG00000141655	11908	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF11A	None	None	17974	3650
TNFRSF11B	TNF receptor superfamily member 11b	Juvenile Paget disease?0002831;Familial calcium pyrophosphate deposition?0001292	https://raresource.nih.gov/literature/gene/TNFRSF11B	4982	ENSG00000164761	11909	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF11B	None	None	11476	9057
TNFRSF13B	TNF receptor superfamily member 13B	Common variable immunodeficiency?0006140	https://raresource.nih.gov/literature/gene/TNFRSF13B	23495	ENSG00000240505	18153	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF13B	None	None	12643	637
TNFRSF13C	TNF receptor superfamily member 13C	Common variable immunodeficiency?0006140	https://raresource.nih.gov/literature/gene/TNFRSF13C	115650	ENSG00000159958	17755	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF13C	None	None	2965	744
TNFRSF1A	TNF receptor superfamily member 1A	Tumor necrosis factor receptor 1 associated periodic syndrome?0008457	https://raresource.nih.gov/literature/gene/TNFRSF1A	7132	ENSG00000067182	11916	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF1A	None	None	4634	7094
TNFRSF1B	TNF receptor superfamily member 1B	Classic mycosis fungoides?0003863;Sézary syndrome?0007629	https://raresource.nih.gov/literature/gene/TNFRSF1B	7133	ENSG00000028137	11917	https://pubmed.ncbi.nlm.nih.gov/?term=TNFRSF1B	None	None	17964	5070
TNFSF11	TNF superfamily member 11	Osteopetrosis, autosomal recessive 2?0004157	https://raresource.nih.gov/literature/gene/TNFSF11	8600	ENSG00000120659	11926	https://pubmed.ncbi.nlm.nih.gov/?term=TNFSF11	None	None	12415	13151
TNFSF12	TNF superfamily member 12	Common variable immunodeficiency?0006140	https://raresource.nih.gov/literature/gene/TNFSF12	8742	ENSG00000239697	11927	https://pubmed.ncbi.nlm.nih.gov/?term=TNFSF12	None	None	154	942
TNFSF15	TNF superfamily member 15	Primary biliary cholangitis?0007459	https://raresource.nih.gov/literature/gene/TNFSF15	9966	ENSG00000181634	11931	https://pubmed.ncbi.nlm.nih.gov/?term=TNFSF15	None	None	7997	631
TNFSF4	TNF superfamily member 4	Narcolepsy type 1?0007162	https://raresource.nih.gov/literature/gene/TNFSF4	7292	ENSG00000117586	11934	https://pubmed.ncbi.nlm.nih.gov/?term=TNFSF4	None	None	9061	390
TNNC1	troponin C1, slow skeletal and cardiac type	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/TNNC1	7134	ENSG00000114854	11943	https://pubmed.ncbi.nlm.nih.gov/?term=TNNC1	None	None	1903	2205
TNNI2	troponin I2, fast skeletal type	Arthrogryposis, distal, type 2b1?0009909;Distal arthrogryposis type 1?0000787	https://raresource.nih.gov/literature/gene/TNNI2	7136	ENSG00000130598	11946	https://pubmed.ncbi.nlm.nih.gov/?term=TNNI2	None	None	2720	115
TNNI3	troponin I3, cardiac type	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/TNNI3	7137	ENSG00000129991	11947	https://pubmed.ncbi.nlm.nih.gov/?term=TNNI3	None	None	2852	4797
TNNT1	troponin T1, slow skeletal type	Amish nemaline myopathy?0008334	https://raresource.nih.gov/literature/gene/TNNT1	7138	ENSG00000105048	11948	https://pubmed.ncbi.nlm.nih.gov/?term=TNNT1	None	None	9078	1272
TNNT2	troponin T2, cardiac type	Familial isolated dilated cardiomyopathy?0002905;Left ventricular noncompaction?0010985	https://raresource.nih.gov/literature/gene/TNNT2	7139	ENSG00000118194	11949	https://pubmed.ncbi.nlm.nih.gov/?term=TNNT2	None	None	8593	3000
TNNT3	troponin T3, fast skeletal type	Distal arthrogryposis type 1?0000787	https://raresource.nih.gov/literature/gene/TNNT3	7140	ENSG00000130595	11950	https://pubmed.ncbi.nlm.nih.gov/?term=TNNT3	None	None	10915	118
TNPO3	transportin 3	Primary biliary cholangitis?0007459	https://raresource.nih.gov/literature/gene/TNPO3	23534	ENSG00000064419	17103	https://pubmed.ncbi.nlm.nih.gov/?term=TNPO3	None	None	37781	125
TNXB	tenascin XB	Classical-like Ehlers-Danlos syndrome type 1?0008507	https://raresource.nih.gov/literature/gene/TNXB	7148	ENSG00000168477	11976	https://pubmed.ncbi.nlm.nih.gov/?term=TNXB	None	None	27004	51
TOM1	target of myb1 membrane trafficking protein	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome?0012314	https://raresource.nih.gov/literature/gene/TOM1	10043	ENSG00000100284	11982	https://pubmed.ncbi.nlm.nih.gov/?term=TOM1	None	None	18872	149
TOMM40	translocase of outer mitochondrial membrane 40	Early-onset autosomal dominant Alzheimer disease?0012798	https://raresource.nih.gov/literature/gene/TOMM40	10452	ENSG00000130204	18001	https://pubmed.ncbi.nlm.nih.gov/?term=TOMM40	None	None	5923	644
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	50
TOP2A	DNA topoisomerase II alpha	Neuroblastoma?0007185	https://raresource.nih.gov/literature/gene/TOP2A	7153	ENSG00000131747	11989	https://pubmed.ncbi.nlm.nih.gov/?term=TOP2A	None	None	11060	4215
TOPORS	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	Retinitis pigmentosa?0005694;Orofaciodigital syndrome type 6?0004412	https://raresource.nih.gov/literature/gene/TOPORS	10210	ENSG00000197579	21653	https://pubmed.ncbi.nlm.nih.gov/?term=TOPORS	None	None	6005	85
TOR1A	torsin family 1 member A	Early-onset generalized limb-onset dystonia?0002027;Myoclonus-dystonia syndrome?0007139	https://raresource.nih.gov/literature/gene/TOR1A	1861	ENSG00000136827	3098	https://pubmed.ncbi.nlm.nih.gov/?term=TOR1A	None	None	5881	1113
TP53	tumor protein p53	Small cell lung cancer?0009344;Adult hepatocellular carcinoma?0006608;Choroid plexus carcinoma?0008238;Essential thrombocythemia?0006594;Osteosarcoma?0007284;Adrenocortical carcinoma?0000558;B-cell chronic lymphocytic leukemia?0006104;Papilloma of choroid plexus?0004214;Alveolar rhabdomyosarcoma?0004701;Embryonal rhabdomyosarcoma?0004702;Gliosarcoma?0005653;Li-Fraumeni syndrome?0006902;Familial pancreatic carcinoma?0004206	https://raresource.nih.gov/literature/gene/TP53	7157	ENSG00000141510	11998	https://pubmed.ncbi.nlm.nih.gov/?term=TP53	None	None	16733	113641
TP53RK	TP53 regulating kinase	Galloway-Mowat syndrome?0000065	https://raresource.nih.gov/literature/gene/TP53RK	112858	ENSG00000172315	16197	https://pubmed.ncbi.nlm.nih.gov/?term=TP53RK	None	None	2625	79
TP63	tumor protein p63	ADULT syndrome?0000384;Limb-mammary syndrome?0010051;Bladder exstrophy?0006398;Isolated split hand-split foot malformation?0006319;EEC syndrome?0002076;Ankyloblepharon filiforme adnatum-cleft palate syndrome?0000696	https://raresource.nih.gov/literature/gene/TP63	8626	ENSG00000073282	15979	https://pubmed.ncbi.nlm.nih.gov/?term=TP63	None	None	103296	8779
TP73	tumor protein p73	Small cell lung cancer?0009344	https://raresource.nih.gov/literature/gene/TP73	7161	ENSG00000078900	12003	https://pubmed.ncbi.nlm.nih.gov/?term=TP73	None	None	37871	2569
TPI1	triosephosphate isomerase 1	Triose phosphate-isomerase deficiency?0005287	https://raresource.nih.gov/literature/gene/TPI1	7167	ENSG00000111669	12009	https://pubmed.ncbi.nlm.nih.gov/?term=TPI1	None	None	1590	3261
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	209
TPM1	tropomyosin 1	Familial isolated dilated cardiomyopathy?0002905;Left ventricular noncompaction?0010985	https://raresource.nih.gov/literature/gene/TPM1	7168	ENSG00000140416	12010	https://pubmed.ncbi.nlm.nih.gov/?term=TPM1	None	None	9428	609
TPM2	tropomyosin 2	Cap myopathy?0011915;Congenital fiber-type disproportion myopathy?0006161;Childhood-onset nemaline myopathy?0007171;Typical nemaline myopathy?0012822;Distal arthrogryposis type 1?0000787	https://raresource.nih.gov/literature/gene/TPM2	7169	ENSG00000198467	12011	https://pubmed.ncbi.nlm.nih.gov/?term=TPM2	None	None	3746	438
TPM3	tropomyosin 3	Cap myopathy?0011915;Congenital fiber-type disproportion myopathy?0006161;Inflammatory myofibroblastic tumor?0007146;Childhood-onset nemaline myopathy?0007171;Intermediate nemaline myopathy?0012823	https://raresource.nih.gov/literature/gene/TPM3	7170	ENSG00000143549	12012	https://pubmed.ncbi.nlm.nih.gov/?term=TPM3	None	None	15936	2170
TPM4	tropomyosin 4	Inflammatory myofibroblastic tumor?0007146	https://raresource.nih.gov/literature/gene/TPM4	7171	ENSG00000167460	12013	https://pubmed.ncbi.nlm.nih.gov/?term=TPM4	None	None	15384	199
TPP1	tripeptidyl peptidase 1	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia?0012232;CLN2 disease?0003045	https://raresource.nih.gov/literature/gene/TPP1	1200	ENSG00000166340	2073	https://pubmed.ncbi.nlm.nih.gov/?term=TPP1	None	None	3685	921
TPR	translocated promoter region, nuclear basket protein	Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/TPR	7175	ENSG00000047410	12017	https://pubmed.ncbi.nlm.nih.gov/?term=TPR	None	None	24012	785
TPRKB	TP53RK binding protein	Galloway-Mowat syndrome?0000065	https://raresource.nih.gov/literature/gene/TPRKB	51002	ENSG00000144034	24259	https://pubmed.ncbi.nlm.nih.gov/?term=TPRKB	None	None	5447	43
TRAF3	TNF receptor associated factor 3	Herpes simplex virus encephalitis?0006649	https://raresource.nih.gov/literature/gene/TRAF3	7187	ENSG00000131323	12033	https://pubmed.ncbi.nlm.nih.gov/?term=TRAF3	None	None	49058	1525
TRAF3IP1	TRAF3 interacting protein 1	Senior-Loken syndrome?0000322;Short rib-polydactyly syndrome, Majewski type?0004833	https://raresource.nih.gov/literature/gene/TRAF3IP1	26146	ENSG00000204104	17861	https://pubmed.ncbi.nlm.nih.gov/?term=TRAF3IP1	None	None	32036	35
TRAF3IP2	TRAF3 interacting protein 2	Chronic mucocutaneous candidiasis?0001077	https://raresource.nih.gov/literature/gene/TRAF3IP2	10758	ENSG00000056972	1343	https://pubmed.ncbi.nlm.nih.gov/?term=TRAF3IP2	None	None	19447	649
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	3405
TRAF7	TNF receptor associated factor 7	Meningioma?0007015	https://raresource.nih.gov/literature/gene/TRAF7	84231	ENSG00000131653	20456	https://pubmed.ncbi.nlm.nih.gov/?term=TRAF7	None	None	11435	144
TRAIP	TRAF interacting protein	Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/TRAIP	10293	ENSG00000183763	30764	https://pubmed.ncbi.nlm.nih.gov/?term=TRAIP	None	None	11778	123
TRANK1	tetratricopeptide repeat and ankyrin repeat containing 1	Kleine-Levin syndrome?0003117	https://raresource.nih.gov/literature/gene/TRANK1	9881	ENSG00000168016	29011	https://pubmed.ncbi.nlm.nih.gov/?term=TRANK1	None	None	47684	39
TRAPPC11	trafficking protein particle complex subunit 11	Triple A syndrome?0000457	https://raresource.nih.gov/literature/gene/TRAPPC11	60684	ENSG00000168538	25751	https://pubmed.ncbi.nlm.nih.gov/?term=TRAPPC11	None	None	22234	45
TRAPPC14	trafficking protein particle complex subunit 14	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?0010624	https://raresource.nih.gov/literature/gene/TRAPPC2	6399	ENSG00000196459	23068	https://pubmed.ncbi.nlm.nih.gov/?term=TRAPPC2	None	None	4478	69
TRDN	triadin	Romano-Ward syndrome?0003284;Catecholaminergic polymorphic ventricular tachycardia?0004421	https://raresource.nih.gov/literature/gene/TRDN	10345	ENSG00000186439	12261	https://pubmed.ncbi.nlm.nih.gov/?term=TRDN	None	None	166768	264
TREH	trehalase	Trehalase deficiency?0010372	https://raresource.nih.gov/literature/gene/TREH	11181	ENSG00000118094	12266	https://pubmed.ncbi.nlm.nih.gov/?term=TREH	None	None	8375	1173
TREM2	triggering receptor expressed on myeloid cells 2	Progressive non-fluent aphasia?0010793;Behavioral variant of frontotemporal dementia?0007392;Nasu-Hakola disease?0009921;Amyotrophic lateral sclerosis?0005786;Early-onset autosomal dominant Alzheimer disease?0012798;Semantic dementia?0010792	https://raresource.nih.gov/literature/gene/TREM2	54209	ENSG00000095970	17761	https://pubmed.ncbi.nlm.nih.gov/?term=TREM2	None	None	3125	1736
TREX1	three prime repair exonuclease 1	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations?0001217;Aicardi-Goutières syndrome?0000575	https://raresource.nih.gov/literature/gene/TREX1	11277	ENSG00000213689	12269	https://pubmed.ncbi.nlm.nih.gov/?term=TREX1	None	None	1030	493
TRIM24	tripartite motif containing 24	Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/TRIM24	8805	ENSG00000122779	11812	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM24	None	None	48563	466
TRIM27	tripartite motif containing 27	Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/TRIM27	5987	ENSG00000204713	9975	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM27	None	None	9950	1544
TRIM28	tripartite motif containing 28	Nephroblastoma?0007892	https://raresource.nih.gov/literature/gene/TRIM28	10155	ENSG00000130726	16384	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM28	None	None	5154	813
TRIM32	tripartite motif containing 32	Bardet-Biedl syndrome?0006866;TRIM32-related limb-girdle muscular dystrophy R8?0003844;Bardet-biedl syndrome 11?0010210	https://raresource.nih.gov/literature/gene/TRIM32	22954	ENSG00000119401	16380	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM32	None	None	1147	281
TRIM33	tripartite motif containing 33	Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/TRIM33	51592	ENSG00000197323	16290	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM33	None	None	46406	329
TRIM37	tripartite motif containing 37	Mulibrey nanism?0000095	https://raresource.nih.gov/literature/gene/TRIM37	4591	ENSG00000108395	7523	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM37	None	None	36226	172
TRIM44	tripartite motif containing 44	Isolated aniridia?0005816	https://raresource.nih.gov/literature/gene/TRIM44	54765	ENSG00000166326	19016	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM44	None	None	56363	156
TRIM8	tripartite motif containing 8	Early infantile epileptic encephalopathy?0009255	https://raresource.nih.gov/literature/gene/TRIM8	81603	ENSG00000171206	15579	https://pubmed.ncbi.nlm.nih.gov/?term=TRIM8	None	None	8004	102
TRIP11	thyroid hormone receptor interactor 11	Odontochondrodysplasia?0008717	https://raresource.nih.gov/literature/gene/TRIP11	9321	ENSG00000100815	12305	https://pubmed.ncbi.nlm.nih.gov/?term=TRIP11	None	None	25388	83
TRIP13	thyroid hormone receptor interactor 13	Nephroblastoma?0007892;Mosaic variegated aneuploidy syndrome?0003007	https://raresource.nih.gov/literature/gene/TRIP13	9319	ENSG00000071539	12307	https://pubmed.ncbi.nlm.nih.gov/?term=TRIP13	None	None	10028	221
TRIP4	thyroid hormone receptor interactor 4	Spinal muscular atrophy with congenital bone fractures 1?0004947	https://raresource.nih.gov/literature/gene/TRIP4	9325	ENSG00000103671	12310	https://pubmed.ncbi.nlm.nih.gov/?term=TRIP4	None	None	20127	205
TRMU	tRNA mitochondrial 2-thiouridylase	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins?0010593	https://raresource.nih.gov/literature/gene/TRMU	55687	ENSG00000100416	25481	https://pubmed.ncbi.nlm.nih.gov/?term=TRMU	None	None	7963	99
TRPA1	transient receptor potential cation channel subfamily A member 1	Cramp-fasciculation syndrome?0006205	https://raresource.nih.gov/literature/gene/TRPA1	8989	ENSG00000104321	497	https://pubmed.ncbi.nlm.nih.gov/?term=TRPA1	None	None	21497	3651
TRPC6	transient receptor potential cation channel subfamily C member 6	Genetic 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	1349
TRPM1	transient receptor potential cation channel subfamily M member 1	Congenital stationary night blindness?0003995	https://raresource.nih.gov/literature/gene/TRPM1	4308	ENSG00000134160	7146	https://pubmed.ncbi.nlm.nih.gov/?term=TRPM1	None	None	41338	283
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	312
TRPM4	transient receptor potential cation channel subfamily M member 4	Progressive familial heart block, type ib?0002610;Brugada syndrome?0001030;Familial progressive cardiac conduction defect?0010005	https://raresource.nih.gov/literature/gene/TRPM4	54795	ENSG00000130529	17993	https://pubmed.ncbi.nlm.nih.gov/?term=TRPM4	None	None	22146	566
TRPM6	transient receptor potential cation channel subfamily M member 6	Primary hypomagnesemia with secondary hypocalcemia?0013072	https://raresource.nih.gov/literature/gene/TRPM6	140803	ENSG00000119121	17995	https://pubmed.ncbi.nlm.nih.gov/?term=TRPM6	None	None	65655	395
TRPM7	transient receptor potential cation channel subfamily M member 7	Parkinson-dementia complex of Guam?0009239	https://raresource.nih.gov/literature/gene/TRPM7	54822	ENSG00000092439	17994	https://pubmed.ncbi.nlm.nih.gov/?term=TRPM7	None	None	55256	962
TRPS1	transcriptional repressor GATA binding 1	Trichorhinophalangeal syndrome, type i?0007800;Trichorhinophalangeal syndrome, type iii?0007802;Trichorhinophalangeal syndrome type 2?0007801	https://raresource.nih.gov/literature/gene/TRPS1	7227	ENSG00000104447	12340	https://pubmed.ncbi.nlm.nih.gov/?term=TRPS1	None	None	93559	354
TRPV3	transient receptor potential cation channel subfamily V member 3	Mutilating palmoplantar keratoderma with periorificial keratotic plaques?0004075	https://raresource.nih.gov/literature/gene/TRPV3	162514	ENSG00000167723	18084	https://pubmed.ncbi.nlm.nih.gov/?term=TRPV3	None	None	15863	487
TRPV4	transient receptor potential cation channel subfamily V member 4	Autosomal dominant congenital benign spinal muscular atrophy?0001474;Parastremmatic dwarfism?0004222;Metatropic dysplasia?0003571;Autosomal dominant brachyolmia?0010429;Spondyloepiphyseal dysplasia, Maroteaux type?0000994;Spondylometaphyseal dysplasia, Kozlowski type?0003047;Scapuloperoneal spinal muscular atrophy?0010314;Familial avascular necrosis of femoral head?0010914	https://raresource.nih.gov/literature/gene/TRPV4	59341	ENSG00000111199	18083	https://pubmed.ncbi.nlm.nih.gov/?term=TRPV4	None	None	14096	2226
TRPV6	transient receptor potential cation channel subfamily V member 6	Neonatal severe primary hyperparathyroidism?0002838	https://raresource.nih.gov/literature/gene/TRPV6	55503	ENSG00000165125	14006	https://pubmed.ncbi.nlm.nih.gov/?term=TRPV6	None	None	5882	1283
TSC1	TSC complex subunit 1	Adult hepatocellular carcinoma?0006608;Lymphangioleiomyomatosis?0003319;Tuberous sclerosis complex?0007830	https://raresource.nih.gov/literature/gene/TSC1	7248	ENSG00000165699	12362	https://pubmed.ncbi.nlm.nih.gov/?term=TSC1	None	None	23116	3099
TSC2	TSC complex subunit 2	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis?0009481;Lymphangioleiomyomatosis?0003319;Adult hepatocellular carcinoma?0006608;Tuberous sclerosis complex?0007830	https://raresource.nih.gov/literature/gene/TSC2	7249	ENSG00000103197	12363	https://pubmed.ncbi.nlm.nih.gov/?term=TSC2	None	None	25919	3490
TSEN15	tRNA splicing endonuclease subunit 15	Pontocerebellar hypoplasia type 2?0010705	https://raresource.nih.gov/literature/gene/TSEN15	116461	ENSG00000198860	16791	https://pubmed.ncbi.nlm.nih.gov/?term=TSEN15	None	None	24647	15
TSEN2	tRNA splicing endonuclease subunit 2	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	28
TSEN34	tRNA splicing endonuclease subunit 34	Pontocerebellar hypoplasia type 2?0010705	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 4?0000343;Pontocerebellar hypoplasia type 2?0010705	https://raresource.nih.gov/literature/gene/TSEN54	283989	ENSG00000182173	27561	https://pubmed.ncbi.nlm.nih.gov/?term=TSEN54	None	None	2788	52
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	378
TSHR	thyroid stimulating hormone receptor	Familial hyperthyroidism due to mutations in TSH receptor?0002858;Thyroid hypoplasia?0008426	https://raresource.nih.gov/literature/gene/TSHR	7253	ENSG00000165409	12373	https://pubmed.ncbi.nlm.nih.gov/?term=TSHR	None	None	55438	3580
TSPAN12	tetraspanin 12	Familial exudative vitreoretinopathy?0001613	https://raresource.nih.gov/literature/gene/TSPAN12	23554	ENSG00000106025	21641	https://pubmed.ncbi.nlm.nih.gov/?term=TSPAN12	None	None	24639	154
TSPOAP1	TSPO associated protein 1	Autosomal recessive dopa-responsive dystonia?0001902	https://raresource.nih.gov/literature/gene/TSPOAP1	9256	ENSG00000005379	16831	https://pubmed.ncbi.nlm.nih.gov/?term=TSPOAP1	None	None	11357	34
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	27
TSR2	TSR2 ribosome maturation factor	Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/TSR2	90121	ENSG00000158526	25455	https://pubmed.ncbi.nlm.nih.gov/?term=TSR2	None	None	1267	28
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	92
TTC12	tetratricopeptide repeat domain 12	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	29
TTC19	tetratricopeptide repeat domain 19	Isolated complex III deficiency?0008295	https://raresource.nih.gov/literature/gene/TTC19	54902	ENSG00000011295	26006	https://pubmed.ncbi.nlm.nih.gov/?term=TTC19	None	None	7414	30
TTC21B	tetratricopeptide repeat domain 21B	Jeune syndrome?0003049	https://raresource.nih.gov/literature/gene/TTC21B	79809	ENSG00000123607	25660	https://pubmed.ncbi.nlm.nih.gov/?term=TTC21B	None	None	40485	83
TTC7A	tetratricopeptide repeat domain 7A	Multiple intestinal atresia?0003013	https://raresource.nih.gov/literature/gene/TTC7A	57217	ENSG00000068724	19750	https://pubmed.ncbi.nlm.nih.gov/?term=TTC7A	None	None	69507	69
TTC8	tetratricopeptide repeat domain 8	Bardet-Biedl syndrome?0006866;Retinitis pigmentosa?0005694;Bardet-biedl syndrome 8?0010207	https://raresource.nih.gov/literature/gene/TTC8	123016	ENSG00000165533	20087	https://pubmed.ncbi.nlm.nih.gov/?term=TTC8	None	None	13034	62
TTLL5	tubulin tyrosine ligase like 5	Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/TTLL5	23093	ENSG00000119685	19963	https://pubmed.ncbi.nlm.nih.gov/?term=TTLL5	None	None	70353	61
TTN	titin	Familial isolated dilated cardiomyopathy?0002905;Classic multiminicore myopathy?0013661;Familial atrial fibrillation?0009740;Autosomal recessive centronuclear myopathy?0012718;Hereditary myopathy with early respiratory failure?0012591	https://raresource.nih.gov/literature/gene/TTN	7273	ENSG00000155657	12403	https://pubmed.ncbi.nlm.nih.gov/?term=TTN	None	None	133926	2982
TTPA	alpha tocopherol transfer protein	Ataxia with vitamin E deficiency?0008595	https://raresource.nih.gov/literature/gene/TTPA	7274	ENSG00000137561	12404	https://pubmed.ncbi.nlm.nih.gov/?term=TTPA	None	None	14771	602
TUB	TUB bipartite transcription factor	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/TUB	7275	ENSG00000166402	12406	https://pubmed.ncbi.nlm.nih.gov/?term=TUB	None	None	33777	907
TUBB	tubulin beta class I	Multiple benign circumferential skin creases on limbs?0003589	https://raresource.nih.gov/literature/gene/TUBB	203068	ENSG00000196230	20778	https://pubmed.ncbi.nlm.nih.gov/?term=TUBB	None	None	3347	392
TUBB2B	tubulin beta 2B class IIb	Dysequilibrium syndrome?0001998;Congenital fibrosis of extraocular muscles?0012590	https://raresource.nih.gov/literature/gene/TUBB2B	347733	ENSG00000137285	30829	https://pubmed.ncbi.nlm.nih.gov/?term=TUBB2B	None	None	3365	119
TUBB3	tubulin beta 3 class III	Congenital fibrosis of extraocular muscles?0012590;Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation?0013032	https://raresource.nih.gov/literature/gene/TUBB3	10381	ENSG00000258947	20772	https://pubmed.ncbi.nlm.nih.gov/?term=TUBB3	None	None	1018	1059
TUBB4A	tubulin beta 4A class IVa	Primary dystonia, DYT4 type?0010138;Hypomyelination with atrophy of basal ganglia and cerebellum?0010917	https://raresource.nih.gov/literature/gene/TUBB4A	10382	ENSG00000104833	20774	https://pubmed.ncbi.nlm.nih.gov/?term=TUBB4A	None	None	4999	205
TUBG1	tubulin gamma 1	15q11.2 microdeletion syndrome?0010525	https://raresource.nih.gov/literature/gene/TUBG1	7283	ENSG00000131462	12417	https://pubmed.ncbi.nlm.nih.gov/?term=TUBG1	None	None	2161	65
TUKLS	Tukel syndrome	Tukel syndrome?0009814	https://raresource.nih.gov/literature/gene/TUKLS	574049			https://pubmed.ncbi.nlm.nih.gov/?term=TUKLS	None	None	None	None
TULP1	TUB like protein 1	Retinitis pigmentosa?0005694;Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/TULP1	7287	ENSG00000112041	12423	https://pubmed.ncbi.nlm.nih.gov/?term=TULP1	None	None	6840	122
TWIST1	twist family bHLH transcription factor 1	Saethre-Chotzen syndrome?0007598	https://raresource.nih.gov/literature/gene/TWIST1	7291	ENSG00000122691	12428	https://pubmed.ncbi.nlm.nih.gov/?term=TWIST1	None	None	2671	4523
TWIST2	twist family bHLH transcription factor 2	Barber-Say syndrome?0000819;Ablepharon macrostomia syndrome?0000003;Focal facial dermal dysplasia type III?0000121	https://raresource.nih.gov/literature/gene/TWIST2	117581	ENSG00000233608	20670	https://pubmed.ncbi.nlm.nih.gov/?term=TWIST2	None	None	31468	494
TWNK	twinkle mtDNA helicase	Perrault syndrome?0002542;Infantile-onset spinocerebellar ataxia?0004062;Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome?0009998	https://raresource.nih.gov/literature/gene/TWNK	56652	ENSG00000107815	1160	https://pubmed.ncbi.nlm.nih.gov/?term=TWNK	None	None	3308	272
TXNDC15	thioredoxin domain containing 15	Meckel syndrome?0003436	https://raresource.nih.gov/literature/gene/TXNDC15	79770	ENSG00000113621	20652	https://pubmed.ncbi.nlm.nih.gov/?term=TXNDC15	None	None	11534	162
TXNL4A	thioredoxin like 4A	Burn-McKeown syndrome?0010041	https://raresource.nih.gov/literature/gene/TXNL4A	10907	ENSG00000141759	30551	https://pubmed.ncbi.nlm.nih.gov/?term=TXNL4A	None	None	16296	77
TXNRD2	thioredoxin reductase 2	Familial glucocorticoid deficiency?0002498;Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/TXNRD2	10587	ENSG00000184470	18155	https://pubmed.ncbi.nlm.nih.gov/?term=TXNRD2	None	None	26700	75
TYK2	tyrosine kinase 2	Lymphomatoid papulosis?0006944	https://raresource.nih.gov/literature/gene/TYK2	7297	ENSG00000105397	12440	https://pubmed.ncbi.nlm.nih.gov/?term=TYK2	None	None	12834	1440
TYMP	thymidine phosphorylase	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	2797
TYR	tyrosinase	Waardenburg syndrome type 2?0005520;Oculocutaneous albinism type 1B?0000594	https://raresource.nih.gov/literature/gene/TYR	7299	ENSG00000077498	12442	https://pubmed.ncbi.nlm.nih.gov/?term=TYR	None	None	32642	1602
TYROBP	transmembrane immune signaling adaptor TYROBP	Nasu-Hakola disease?0009921	https://raresource.nih.gov/literature/gene/TYROBP	7305	ENSG00000011600	12449	https://pubmed.ncbi.nlm.nih.gov/?term=TYROBP	None	None	1886	802
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	5547
UBA1	ubiquitin like modifier activating enzyme 1	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	455
UBAC2	UBA domain containing 2	Behçet disease?0000848	https://raresource.nih.gov/literature/gene/UBAC2	337867	ENSG00000134882	20486	https://pubmed.ncbi.nlm.nih.gov/?term=UBAC2	None	None	59616	27
UBAP1	ubiquitin associated protein 1	Autosomal dominant spastic paraplegia type 12?0009586	https://raresource.nih.gov/literature/gene/UBAP1	51271	ENSG00000165006	12461	https://pubmed.ncbi.nlm.nih.gov/?term=UBAP1	None	None	31554	90
UBE2T	ubiquitin conjugating enzyme E2 T	Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/UBE2T	29089	ENSG00000077152	25009	https://pubmed.ncbi.nlm.nih.gov/?term=UBE2T	None	None	5667	158
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	54
UBE4B	ubiquitination factor E4B	1p36 deletion syndrome?0006082	https://raresource.nih.gov/literature/gene/UBE4B	10277	ENSG00000130939	12500	https://pubmed.ncbi.nlm.nih.gov/?term=UBE4B	None	None	57885	1539
UBIAD1	UbiA prenyltransferase domain containing 1	Schnyder corneal dystrophy?0009277	https://raresource.nih.gov/literature/gene/UBIAD1	29914	ENSG00000120942	30791	https://pubmed.ncbi.nlm.nih.gov/?term=UBIAD1	None	None	9903	101
UBQLN2	ubiquilin 2	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	283
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	192
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	462
UFD1	ubiquitin recognition factor in ER associated degradation 1	22q11.2 deletion syndrome?0010299	https://raresource.nih.gov/literature/gene/UFD1	7353	ENSG00000070010	12520	https://pubmed.ncbi.nlm.nih.gov/?term=UFD1	None	None	8828	241
UFM1	ubiquitin fold modifier 1	Hypomyelination with atrophy of basal ganglia and cerebellum?0010917	https://raresource.nih.gov/literature/gene/UFM1	51569	ENSG00000120686	20597	https://pubmed.ncbi.nlm.nih.gov/?term=UFM1	None	None	5562	208
UFSP2	UFM1 specific peptidase 2	Hip dysplasia, Beukes type?0002690	https://raresource.nih.gov/literature/gene/UFSP2	55325	ENSG00000109775	25640	https://pubmed.ncbi.nlm.nih.gov/?term=UFSP2	None	None	11585	80
UGT1A1	UDP glucuronosyltransferase family 1 member A1	Transient familial neonatal hyperbilirubinemia?0002791;Crigler-Najjar syndrome type 2?0008683;Crigler-Najjar syndrome type 1?0000047	https://raresource.nih.gov/literature/gene/UGT1A1	54658	ENSG00000241635	12530	https://pubmed.ncbi.nlm.nih.gov/?term=UGT1A1	None	None	581	3643
UMOD	uromodulin	UMOD-related autosomal dominant tubulointerstitial kidney disease?0010679	https://raresource.nih.gov/literature/gene/UMOD	7369	ENSG00000169344	12559	https://pubmed.ncbi.nlm.nih.gov/?term=UMOD	None	None	8096	1198
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	717
UNC119	unc-119 lipid binding chaperone	Cone rod dystrophy?0010790;Idiopathic CD4 lymphocytopenia?0012375	https://raresource.nih.gov/literature/gene/UNC119	9094	ENSG00000109103	12565	https://pubmed.ncbi.nlm.nih.gov/?term=UNC119	None	None	2362	86
UNC13A	unc-13 homolog A	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/UNC13A	23025	ENSG00000130477	23150	https://pubmed.ncbi.nlm.nih.gov/?term=UNC13A	None	None	35666	268
UNC13D	unc-13 homolog D	Familial hemophagocytic lymphohistiocytosis?0006589	https://raresource.nih.gov/literature/gene/UNC13D	201294	ENSG00000092929	23147	https://pubmed.ncbi.nlm.nih.gov/?term=UNC13D	None	None	7009	361
UNC93B1	unc-93 homolog B1, TLR signaling regulator	Herpes simplex virus encephalitis?0006649	https://raresource.nih.gov/literature/gene/UNC93B1	81622	ENSG00000110057	13481	https://pubmed.ncbi.nlm.nih.gov/?term=UNC93B1	None	None	7570	163
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	1527
UPF3B	UPF3B regulator of nonsense mediated mRNA decay	Lujan-Fryns syndrome?0003307	https://raresource.nih.gov/literature/gene/UPF3B	65109	ENSG00000125351	20439	https://pubmed.ncbi.nlm.nih.gov/?term=UPF3B	None	None	4507	107
UQCC2	ubiquinol-cytochrome c reductase complex assembly factor 2	Isolated complex III deficiency?0008295	https://raresource.nih.gov/literature/gene/UQCC2	84300	ENSG00000137288	21237	https://pubmed.ncbi.nlm.nih.gov/?term=UQCC2	None	None	5938	45
UQCC3	ubiquinol-cytochrome c reductase complex assembly factor 3	Isolated complex III deficiency?0008295	https://raresource.nih.gov/literature/gene/UQCC3	790955	ENSG00000204922	34399	https://pubmed.ncbi.nlm.nih.gov/?term=UQCC3	None	None	1320	11
UQCRB	ubiquinol-cytochrome c reductase binding protein	Isolated complex III deficiency?0008295	https://raresource.nih.gov/literature/gene/UQCRB	7381	ENSG00000156467	12582	https://pubmed.ncbi.nlm.nih.gov/?term=UQCRB	None	None	5154	90
UQCRC2	ubiquinol-cytochrome c reductase core protein 2	Isolated complex III deficiency?0008295	https://raresource.nih.gov/literature/gene/UQCRC2	7385	ENSG00000140740	12586	https://pubmed.ncbi.nlm.nih.gov/?term=UQCRC2	None	None	7301	130
UQCRFS1	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	Isolated complex III deficiency?0008295	https://raresource.nih.gov/literature/gene/UQCRFS1	7386	ENSG00000169021	12587	https://pubmed.ncbi.nlm.nih.gov/?term=UQCRFS1	None	None	3879	1593
UQCRQ	ubiquinol-cytochrome c reductase complex III subunit VII	Isolated complex III deficiency?0008295	https://raresource.nih.gov/literature/gene/UQCRQ	27089	ENSG00000164405	29594	https://pubmed.ncbi.nlm.nih.gov/?term=UQCRQ	None	None	1700	56
UROC1	urocanate hydratase 1	Urocanic aciduria?0008539	https://raresource.nih.gov/literature/gene/UROC1	131669	ENSG00000159650	26444	https://pubmed.ncbi.nlm.nih.gov/?term=UROC1	None	None	16681	13
UROD	uroporphyrinogen decarboxylase	Hepatoerythropoietic porphyria?0006169	https://raresource.nih.gov/literature/gene/UROD	7389	ENSG00000126088	12591	https://pubmed.ncbi.nlm.nih.gov/?term=UROD	None	None	1681	76
UROS	uroporphyrinogen III synthase	Congenital erythropoietic porphyria?0004446	https://raresource.nih.gov/literature/gene/UROS	7390	ENSG00000188690	12592	https://pubmed.ncbi.nlm.nih.gov/?term=UROS	None	None	13193	209
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	225
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	8
USH1C	USH1 protein network component harmonin	Usher syndrome type 1?0005435	https://raresource.nih.gov/literature/gene/USH1C	10083	ENSG00000006611	12597	https://pubmed.ncbi.nlm.nih.gov/?term=USH1C	None	None	20466	8
USH1E	Usher syndrome-1E, autosomal recessive, severe	Usher syndrome type 1?0005435	https://raresource.nih.gov/literature/gene/USH1E	7396			https://pubmed.ncbi.nlm.nih.gov/?term=USH1E	None	None	None	3
USH1G	USH1 protein network component sans	Usher syndrome type 1?0005435	https://raresource.nih.gov/literature/gene/USH1G	124590	ENSG00000182040	16356	https://pubmed.ncbi.nlm.nih.gov/?term=USH1G	None	None	3329	94
USH1H	Usher syndrome, type 1H	Usher syndrome type 1?0005435	https://raresource.nih.gov/literature/gene/USH1H	100271837			https://pubmed.ncbi.nlm.nih.gov/?term=USH1H	None	None	None	2
USH1K	Usher syndrome, type IK	Usher syndrome type 1?0005435	https://raresource.nih.gov/literature/gene/USH1K	101180907			https://pubmed.ncbi.nlm.nih.gov/?term=USH1K	None	None	None	1
USH2A	usherin	Usher syndrome type 2?0005440;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/USH2A	7399	ENSG00000042781	12601	https://pubmed.ncbi.nlm.nih.gov/?term=USH2A	None	None	312075	665
USP45	ubiquitin specific peptidase 45	Leber congenital amaurosis?0000634	https://raresource.nih.gov/literature/gene/USP45	85015	ENSG00000123552	20080	https://pubmed.ncbi.nlm.nih.gov/?term=USP45	None	None	32130	105
USP8	ubiquitin specific peptidase 8	Cushing disease?0012867	https://raresource.nih.gov/literature/gene/USP8	9101	ENSG00000138592	12631	https://pubmed.ncbi.nlm.nih.gov/?term=USP8	None	None	28533	339
USP9X	ubiquitin specific peptidase 9 X-linked	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability?0013638	https://raresource.nih.gov/literature/gene/USP9X	8239	ENSG00000124486	12632	https://pubmed.ncbi.nlm.nih.gov/?term=USP9X	None	None	37376	514
UVSSA	UV stimulated scaffold protein A	UV-sensitive syndrome?0010947	https://raresource.nih.gov/literature/gene/UVSSA	57654	ENSG00000163945	29304	https://pubmed.ncbi.nlm.nih.gov/?term=UVSSA	None	None	23364	46
VAC14	VAC14 component of PIKFYVE complex	Yunis-Varon syndrome?0000331	https://raresource.nih.gov/literature/gene/VAC14	55697	ENSG00000103043	25507	https://pubmed.ncbi.nlm.nih.gov/?term=VAC14	None	None	28892	2718
VANGL1	VANGL planar cell polarity protein 1	Caudal regression syndrome?0006007	https://raresource.nih.gov/literature/gene/VANGL1	81839	ENSG00000173218	15512	https://pubmed.ncbi.nlm.nih.gov/?term=VANGL1	None	None	22695	186
VAPB	VAMP associated protein B and C	Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/VAPB	9217	ENSG00000124164	12649	https://pubmed.ncbi.nlm.nih.gov/?term=VAPB	None	None	20035	356
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	1819
VCL	vinculin	Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/VCL	7414	ENSG00000035403	12665	https://pubmed.ncbi.nlm.nih.gov/?term=VCL	None	None	43804	3912
VCP	valosin containing protein	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia?0010899;Progressive non-fluent aphasia?0010793;Behavioral variant of frontotemporal dementia?0007392;Amyotrophic lateral sclerosis?0005786	https://raresource.nih.gov/literature/gene/VCP	7415	ENSG00000165280	12666	https://pubmed.ncbi.nlm.nih.gov/?term=VCP	None	None	8217	2531
VHL	von Hippel-Lindau tumor suppressor	Hereditary pheochromocytoma-paraganglioma?0011984;Von Hippel-Lindau disease?0007855;Sporadic pheochromocytoma/secreting paraganglioma?0007385	https://raresource.nih.gov/literature/gene/VHL	7428	ENSG00000134086	12687	https://pubmed.ncbi.nlm.nih.gov/?term=VHL	None	None	10427	4550
VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	Arthrogryposis-renal dysfunction-cholestasis syndrome?0000794	https://raresource.nih.gov/literature/gene/VIPAS39	63894	ENSG00000151445	20347	https://pubmed.ncbi.nlm.nih.gov/?term=VIPAS39	None	None	7918	42
VLDLR	very low density lipoprotein receptor	Dysequilibrium syndrome?0001998	https://raresource.nih.gov/literature/gene/VLDLR	7436	ENSG00000147852	12698	https://pubmed.ncbi.nlm.nih.gov/?term=VLDLR	None	None	18304	913
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	59
VPS13A	vacuolar protein sorting 13 homolog A	Choreoacanthocytosis?0003956	https://raresource.nih.gov/literature/gene/VPS13A	23230	ENSG00000197969	1908	https://pubmed.ncbi.nlm.nih.gov/?term=VPS13A	None	None	98882	273
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	383
VPS13D	vacuolar protein sorting 13 homolog D	Autosomal recessive cerebellar ataxia-movement disorder syndrome?0004952	https://raresource.nih.gov/literature/gene/VPS13D	55187	ENSG00000048707	23595	https://pubmed.ncbi.nlm.nih.gov/?term=VPS13D	None	None	102061	48
VPS33B	VPS33B late endosome and lysosome associated	Arthrogryposis-renal dysfunction-cholestasis syndrome?0000794	https://raresource.nih.gov/literature/gene/VPS33B	26276	ENSG00000184056	12712	https://pubmed.ncbi.nlm.nih.gov/?term=VPS33B	None	None	8078	108
VPS37D	VPS37D subunit of ESCRT-I	Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/VPS37D	155382	ENSG00000176428	18287	https://pubmed.ncbi.nlm.nih.gov/?term=VPS37D	None	None	3491	4
VPS41	VPS41 subunit of HOPS complex	Autosomal recessive cerebellar ataxia-movement disorder syndrome?0004952	https://raresource.nih.gov/literature/gene/VPS41	27072	ENSG00000006715	12713	https://pubmed.ncbi.nlm.nih.gov/?term=VPS41	None	None	62669	119
VPS4B	vacuolar protein sorting 4 homolog B	Dentin dysplasia type I?0001807	https://raresource.nih.gov/literature/gene/VPS4B	9525	ENSG00000119541	10895	https://pubmed.ncbi.nlm.nih.gov/?term=VPS4B	None	None	12119	354
VRK1	VRK serine/threonine kinase 1	Pontocerebellar hypoplasia type 1?0010704	https://raresource.nih.gov/literature/gene/VRK1	7443	ENSG00000100749	12718	https://pubmed.ncbi.nlm.nih.gov/?term=VRK1	None	None	20151	240
VSX2	visual system homeobox 2	Colobomatous microphthalmia?0003644	https://raresource.nih.gov/literature/gene/VSX2	338917	ENSG00000119614	1975	https://pubmed.ncbi.nlm.nih.gov/?term=VSX2	None	None	8927	359
WAS	WASP actin nucleation promoting factor	X-linked thrombocytopenia with normal platelets?0005176;X-linked severe congenital neutropenia?0003981;Wiskott-Aldrich syndrome?0007895	https://raresource.nih.gov/literature/gene/WAS	7454	ENSG00000015285	12731	https://pubmed.ncbi.nlm.nih.gov/?term=WAS	None	None	2756	1556
WASHC5	WASH complex subunit 5	3C syndrome?0005666;Autosomal dominant spastic paraplegia type 8?0009591	https://raresource.nih.gov/literature/gene/WASHC5	9897	ENSG00000164961	28984	https://pubmed.ncbi.nlm.nih.gov/?term=WASHC5	None	None	25117	73
WDPCP	WD repeat containing planar cell polarity effector	Heart defect-tongue hamartoma-polysyndactyly syndrome?0004166;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/WDPCP	51057	ENSG00000143951	28027	https://pubmed.ncbi.nlm.nih.gov/?term=WDPCP	None	None	252282	33
WDR11	WD repeat domain 11	Kallmann syndrome?0010771;Pituitary stalk interruption syndrome?0013209	https://raresource.nih.gov/literature/gene/WDR11	55717	ENSG00000120008	13831	https://pubmed.ncbi.nlm.nih.gov/?term=WDR11	None	None	22073	160
WDR19	WD repeat domain 19	Senior-Loken syndrome?0000322;Jeune syndrome?0003049;Cranioectodermal dysplasia?0000359	https://raresource.nih.gov/literature/gene/WDR19	57728	ENSG00000157796	18340	https://pubmed.ncbi.nlm.nih.gov/?term=WDR19	None	None	40134	96
WDR35	WD repeat domain 35	Cranioectodermal dysplasia?0000359;Short rib-polydactyly syndrome, Verma-Naumoff type?0004835	https://raresource.nih.gov/literature/gene/WDR35	57539	ENSG00000118965	29250	https://pubmed.ncbi.nlm.nih.gov/?term=WDR35	None	None	29539	68
WDR4	WD repeat domain 4	Galloway-Mowat syndrome?0000065	https://raresource.nih.gov/literature/gene/WDR4	10785	ENSG00000160193	12756	https://pubmed.ncbi.nlm.nih.gov/?term=WDR4	None	None	17087	86
WDR45	WD repeat domain 45	Infantile spasms syndrome?0007887;Beta-propeller protein-associated neurodegeneration?0012570	https://raresource.nih.gov/literature/gene/WDR45	11152	ENSG00000196998	28912	https://pubmed.ncbi.nlm.nih.gov/?term=WDR45	None	None	6524	160
WDR62	WD repeat domain 62	Autosomal recessive primary microcephaly?0012117	https://raresource.nih.gov/literature/gene/WDR62	284403	ENSG00000075702	24502	https://pubmed.ncbi.nlm.nih.gov/?term=WDR62	None	None	15476	127
WDR72	WD repeat domain 72	Hypomaturation amelogenesis imperfecta?0008349;Distal renal tubular acidosis?0004667	https://raresource.nih.gov/literature/gene/WDR72	256764	ENSG00000166415	26790	https://pubmed.ncbi.nlm.nih.gov/?term=WDR72	None	None	64454	65
WDR73	WD repeat domain 73	CAMOS syndrome?0009977;Galloway-Mowat syndrome?0000065	https://raresource.nih.gov/literature/gene/WDR73	84942	ENSG00000177082	25928	https://pubmed.ncbi.nlm.nih.gov/?term=WDR73	None	None	5061	21
WDR81	WD repeat domain 81	Dysequilibrium syndrome?0001998	https://raresource.nih.gov/literature/gene/WDR81	124997	ENSG00000167716	26600	https://pubmed.ncbi.nlm.nih.gov/?term=WDR81	None	None	8938	32
WFS1	wolframin ER transmembrane glycoprotein	Wolfram syndrome?0007898	https://raresource.nih.gov/literature/gene/WFS1	7466	ENSG00000109501	12762	https://pubmed.ncbi.nlm.nih.gov/?term=WFS1	None	None	18221	615
WHRN	whirlin	Usher syndrome type 2?0005440	https://raresource.nih.gov/literature/gene/WHRN	25861	ENSG00000095397	16361	https://pubmed.ncbi.nlm.nih.gov/?term=WHRN	None	None	38766	139
WIPF1	WAS/WASL interacting protein family member 1	Wiskott-Aldrich syndrome?0007895	https://raresource.nih.gov/literature/gene/WIPF1	7456	ENSG00000115935	12736	https://pubmed.ncbi.nlm.nih.gov/?term=WIPF1	None	None	43260	211
WNK1	WNK lysine deficient protein kinase 1	Hereditary sensory and autonomic neuropathy type 2?0003976	https://raresource.nih.gov/literature/gene/WNK1	65125	ENSG00000060237	14540	https://pubmed.ncbi.nlm.nih.gov/?term=WNK1	None	None	45622	14622
WNT1	Wnt family member 1	Osteogenesis imperfecta type 3?0008695;Osteogenesis imperfecta type 4?0008696;Idiopathic juvenile osteoporosis?0006760	https://raresource.nih.gov/literature/gene/WNT1	7471	ENSG00000125084	12774	https://pubmed.ncbi.nlm.nih.gov/?term=WNT1	None	None	2710	2247
WNT10A	Wnt family member 10A	Autosomal recessive hypohidrotic ectodermal dysplasia?0002057;Odonto-onycho-dermal dysplasia?0004054	https://raresource.nih.gov/literature/gene/WNT10A	80326	ENSG00000135925	13829	https://pubmed.ncbi.nlm.nih.gov/?term=WNT10A	None	None	8039	435
WNT10B	Wnt family member 10B	Isolated split hand-split foot malformation?0006319	https://raresource.nih.gov/literature/gene/WNT10B	7480	ENSG00000169884	12775	https://pubmed.ncbi.nlm.nih.gov/?term=WNT10B	None	None	3021	593
WNT3	Wnt family member 3	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	623
WNT3A	Wnt family member 3A	Idiopathic juvenile osteoporosis?0006760	https://raresource.nih.gov/literature/gene/WNT3A	89780	ENSG00000154342	15983	https://pubmed.ncbi.nlm.nih.gov/?term=WNT3A	None	None	21325	2709
WNT4	Wnt family member 4	SERKAL syndrome?0010302	https://raresource.nih.gov/literature/gene/WNT4	54361	ENSG00000162552	12783	https://pubmed.ncbi.nlm.nih.gov/?term=WNT4	None	None	10562	1162
WNT7A	Wnt family member 7A	Fuhrmann syndrome?0002410;Phocomelia, Schinzel type?0009212	https://raresource.nih.gov/literature/gene/WNT7A	7476	ENSG00000154764	12786	https://pubmed.ncbi.nlm.nih.gov/?term=WNT7A	None	None	28161	639
WRAP53	WD repeat containing antisense to TP53	Dyskeratosis congenita?0010905	https://raresource.nih.gov/literature/gene/WRAP53	55135	ENSG00000141499	25522	https://pubmed.ncbi.nlm.nih.gov/?term=WRAP53	None	None	6666	122
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	97
WT1	WT1 transcription factor	Nephroblastoma?0007892;WAGR syndrome?0005528;Desmoplastic small round cell tumor?0006265;Frasier syndrome?0002375;46,XY complete gonadal dysgenesis?0005068;Genetic steroid-resistant nephrotic syndrome?0003946;Meacham syndrome?0003432;Denys-Drash syndrome?0005576	https://raresource.nih.gov/literature/gene/WT1	7490	ENSG00000184937	12796	https://pubmed.ncbi.nlm.nih.gov/?term=WT1	None	None	22897	5758
XDH	xanthine dehydrogenase	Xanthinuria type I?0005621	https://raresource.nih.gov/literature/gene/XDH	7498	ENSG00000158125	12805	https://pubmed.ncbi.nlm.nih.gov/?term=XDH	None	None	34872	4208
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	47
XK	X-linked Kx blood group	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	6415
XPA	XPA, DNA damage recognition and repair factor	Xeroderma pigmentosum?0007910	https://raresource.nih.gov/literature/gene/XPA	7507	ENSG00000136936	12814	https://pubmed.ncbi.nlm.nih.gov/?term=XPA	None	None	9690	1081
XPC	XPC complex subunit, DNA damage recognition and repair factor	Xeroderma pigmentosum?0007910	https://raresource.nih.gov/literature/gene/XPC	7508	ENSG00000154767	12816	https://pubmed.ncbi.nlm.nih.gov/?term=XPC	None	None	15119	1519
XPR1	xenotropic and polytropic retrovirus receptor 1	Bilateral striopallidodentate calcinosis?0006406	https://raresource.nih.gov/literature/gene/XPR1	9213	ENSG00000143324	12827	https://pubmed.ncbi.nlm.nih.gov/?term=XPR1	None	None	102376	191
XRCC2	X-ray repair cross complementing 2	Fanconi anemia?0006425;Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/XRCC2	7516	ENSG00000196584	12829	https://pubmed.ncbi.nlm.nih.gov/?term=XRCC2	None	None	14817	420
XYLT1	xylosyltransferase 1	Desbuquois syndrome?0001818	https://raresource.nih.gov/literature/gene/XYLT1	64131	ENSG00000103489	15516	https://pubmed.ncbi.nlm.nih.gov/?term=XYLT1	None	None	100677	140
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	5601
YARS2	tyrosyl-tRNA synthetase 2	Mitochondrial myopathy and sideroblastic anemia?0003885	https://raresource.nih.gov/literature/gene/YARS2	51067	ENSG00000139131	24249	https://pubmed.ncbi.nlm.nih.gov/?term=YARS2	None	None	3166	211
YWHAE	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	Endometrial stromal sarcoma?0006339;Miller-Dieker syndrome?0003669	https://raresource.nih.gov/literature/gene/YWHAE	7531	ENSG00000108953	12851	https://pubmed.ncbi.nlm.nih.gov/?term=YWHAE	None	None	29295	414
YY1	YY1 transcription factor	Insulinoma?0003010	https://raresource.nih.gov/literature/gene/YY1	7528	ENSG00000100811	12856	https://pubmed.ncbi.nlm.nih.gov/?term=YY1	None	None	18653	5796
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	2587
ZBTB16	zinc finger and BTB domain containing 16	Acute promyelocytic leukemia?0000538	https://raresource.nih.gov/literature/gene/ZBTB16	7704	ENSG00000109906	12930	https://pubmed.ncbi.nlm.nih.gov/?term=ZBTB16	None	None	48354	1080
ZBTB20	zinc finger and BTB domain containing 20	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome?0004488	https://raresource.nih.gov/literature/gene/ZBTB20	26137	ENSG00000181722	13503	https://pubmed.ncbi.nlm.nih.gov/?term=ZBTB20	None	None	294742	188
ZBTB24	zinc finger and BTB domain containing 24	ICF syndrome?0002945	https://raresource.nih.gov/literature/gene/ZBTB24	9841	ENSG00000112365	21143	https://pubmed.ncbi.nlm.nih.gov/?term=ZBTB24	None	None	7815	59
ZC4H2	zinc finger C4H2-type containing	Intellectual disability-developmental delay-contractures syndrome?0007890	https://raresource.nih.gov/literature/gene/ZC4H2	55906	ENSG00000126970	24931	https://pubmed.ncbi.nlm.nih.gov/?term=ZC4H2	None	None	25090	103
ZDHHC9	zinc finger DHHC-type palmitoyltransferase 9	Lujan-Fryns syndrome?0003307	https://raresource.nih.gov/literature/gene/ZDHHC9	51114	ENSG00000188706	18475	https://pubmed.ncbi.nlm.nih.gov/?term=ZDHHC9	None	None	7543	60
ZEB1	zinc finger E-box binding homeobox 1	Fuchs endothelial corneal dystrophy?0010018	https://raresource.nih.gov/literature/gene/ZEB1	6935	ENSG00000148516	11642	https://pubmed.ncbi.nlm.nih.gov/?term=ZEB1	None	None	81317	3538
ZFP57	ZFP57 zinc finger protein	Transient neonatal diabetes mellitus?0001839	https://raresource.nih.gov/literature/gene/ZFP57	346171	ENSG00000204644	18791	https://pubmed.ncbi.nlm.nih.gov/?term=ZFP57	None	None	5074	139
ZFPM2	zinc finger protein, FOG family member 2	Congenital diaphragmatic hernia?0001481;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/ZFPM2	23414	ENSG00000169946	16700	https://pubmed.ncbi.nlm.nih.gov/?term=ZFPM2	None	None	440764	299
ZFTA	zinc finger translocation associated	Ependymoma?0006353	https://raresource.nih.gov/literature/gene/ZFTA	65998	ENSG00000188070	28449	https://pubmed.ncbi.nlm.nih.gov/?term=ZFTA	None	None	None	79
ZFYVE26	zinc finger FYVE-type containing 26	Autosomal recessive spastic paraplegia type 15?0009581	https://raresource.nih.gov/literature/gene/ZFYVE26	23503	ENSG00000072121	20761	https://pubmed.ncbi.nlm.nih.gov/?term=ZFYVE26	None	None	19239	85
ZMPSTE24	zinc metallopeptidase STE24	Mandibuloacral dysplasia with type B lipodystrophy?0009989;Restrictive dermopathy?0001516;Hutchinson-Gilford progeria syndrome?0007467	https://raresource.nih.gov/literature/gene/ZMPSTE24	10269	ENSG00000084073	12877	https://pubmed.ncbi.nlm.nih.gov/?term=ZMPSTE24	None	None	16551	369
ZMYND10	zinc finger MYND-type containing 10	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	229
ZMYND11	zinc finger MYND-type containing 11	Autosomal dominant non-syndromic intellectual disability?0012107;Intellectual developmental disorder, 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	102
ZMYND15	zinc finger MYND-type containing 15	Male infertility with azoospermia or oligozoospermia due to single gene mutation?0008530	https://raresource.nih.gov/literature/gene/ZMYND15	84225	ENSG00000141497	20997	https://pubmed.ncbi.nlm.nih.gov/?term=ZMYND15	None	None	2844	14
ZNF365	zinc finger protein 365	Narcolepsy type 1?0007162	https://raresource.nih.gov/literature/gene/ZNF365	22891	ENSG00000138311	18194	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF365	None	None	60745	57
ZNF408	zinc finger protein 408	Retinitis pigmentosa?0005694;Familial exudative vitreoretinopathy?0001613	https://raresource.nih.gov/literature/gene/ZNF408	79797	ENSG00000175213	20041	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF408	None	None	3385	25
ZNF423	zinc finger protein 423	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	191
ZNF469	zinc finger protein 469	Brittle cornea syndrome?0001019	https://raresource.nih.gov/literature/gene/ZNF469	84627	ENSG00000225614	23216	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF469	None	None	26147	138
ZNF513	zinc finger protein 513	Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/ZNF513	130557	ENSG00000163795	26498	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF513	None	None	2165	35
ZNF592	zinc finger protein 592	CAMOS syndrome?0009977	https://raresource.nih.gov/literature/gene/ZNF592	9640	ENSG00000166716	28986	https://pubmed.ncbi.nlm.nih.gov/?term=ZNF592	None	None	22428	756
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	38
ZSWIM6	zinc finger SWIM-type containing 6	Acromelic frontonasal dysplasia?0005539	https://raresource.nih.gov/literature/gene/ZSWIM6	57688	ENSG00000130449	29316	https://pubmed.ncbi.nlm.nih.gov/?term=ZSWIM6	None	None	79201	17
ZSWIM7	zinc finger SWIM-type containing 7	46,XX gonadal dysgenesis?0005671	https://raresource.nih.gov/literature/gene/ZSWIM7	125150	ENSG00000214941	26993	https://pubmed.ncbi.nlm.nih.gov/?term=ZSWIM7	None	None	8815	191