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
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	333
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	205
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	662
AASS	aminoadipate-semialdehyde synthase	Hyperlysinemia?0002828;Saccharopinuria?0000314	https://raresource.nih.gov/literature/gene/AASS	10157	ENSG00000008311	17366	https://pubmed.ncbi.nlm.nih.gov/?term=AASS	None	None	1496
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	324
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	4107
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	1240
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	1151
ABCA4	ATP binding cassette subfamily A member 4	Cone-rod dystrophy 3?0010653;Cone rod dystrophy?0010790;Retinitis pigmentosa?0005694;Stargardt disease?0000181	https://raresource.nih.gov/literature/gene/ABCA4	24	ENSG00000198691	34	https://pubmed.ncbi.nlm.nih.gov/?term=ABCA4	None	None	1448
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	1828
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	3849
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	750
ABCB4	ATP binding cassette subfamily B member 4	Intrahepatic cholestasis of pregnancy?0009804;Progressive familial intrahepatic cholestasis type 3?0001289	https://raresource.nih.gov/literature/gene/ABCB4	5244	ENSG00000005471	45	https://pubmed.ncbi.nlm.nih.gov/?term=ABCB4	None	None	2404
ABCB6	ATP binding cassette subfamily B member 6 (Langereis blood group)	Dyschromatosis universalis hereditaria?0001996;Coloboma of iris?0001434;Coloboma of eye lens?0001433;Colobomatous microphthalmia?0003644;Coloboma of optic disc?0001438;Coloboma of macula?0001436	https://raresource.nih.gov/literature/gene/ABCB6	10058	ENSG00000115657	47	https://pubmed.ncbi.nlm.nih.gov/?term=ABCB6	None	None	644
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	278
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	859
ABCC6	ATP binding cassette subfamily C member 6	Pseudoxanthoma elasticum?0009643;Generalized arterial calcification of infancy?0008380;Pseudoxanthoma elasticum, forme fruste?0010104	https://raresource.nih.gov/literature/gene/ABCC6	368	ENSG00000091262	57	https://pubmed.ncbi.nlm.nih.gov/?term=ABCC6	None	None	1096
ABCC8	ATP binding cassette subfamily C member 8	MODY?0003697;Isolated permanent neonatal diabetes mellitus?0010457;Transient neonatal diabetes mellitus?0001839	https://raresource.nih.gov/literature/gene/ABCC8	6833	ENSG00000006071	59	https://pubmed.ncbi.nlm.nih.gov/?term=ABCC8	None	None	878
ABCC9	ATP binding cassette subfamily C member 9	Familial isolated dilated cardiomyopathy?0002905;Familial atrial fibrillation?0009740;Cantú syndrome?0008585;Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/ABCC9	10060	ENSG00000069431	60	https://pubmed.ncbi.nlm.nih.gov/?term=ABCC9	None	None	623
ABCD1	ATP binding cassette subfamily D member 1	CADDS?0012472;Adrenomyeloneuropathy?0010614;Hirschsprung disease?0006660;X-linked cerebral adrenoleukodystrophy?0009412	https://raresource.nih.gov/literature/gene/ABCD1	215	ENSG00000101986	61	https://pubmed.ncbi.nlm.nih.gov/?term=ABCD1	None	None	1263
ABCG5	ATP binding cassette subfamily G member 5	Sitosterolemia?0007653;Homozygous familial hypercholesterolemia?0010416	https://raresource.nih.gov/literature/gene/ABCG5	64240	ENSG00000138075	13886	https://pubmed.ncbi.nlm.nih.gov/?term=ABCG5	None	None	460
ABCG8	ATP binding cassette subfamily G member 8	Sitosterolemia?0007653;Homozygous familial hypercholesterolemia?0010416	https://raresource.nih.gov/literature/gene/ABCG8	64241	ENSG00000143921	13887	https://pubmed.ncbi.nlm.nih.gov/?term=ABCG8	None	None	555
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	184
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	1179
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	234
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	224
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	316
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	249
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	496
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	1574
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	235
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	285
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	536
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	294
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	343
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	200
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	591
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	164
ACTA1	actin alpha 1, skeletal muscle	Typical nemaline myopathy?0012822;Childhood-onset nemaline myopathy?0007171;Intermediate nemaline myopathy?0012823;Congenital fiber-type disproportion myopathy?0006161;Rigid spine syndrome?0004723;Severe congenital nemaline myopathy?0012821	https://raresource.nih.gov/literature/gene/ACTA1	58	ENSG00000143632	129	https://pubmed.ncbi.nlm.nih.gov/?term=ACTA1	None	None	137
ACTA2	actin alpha 2, smooth muscle	Moyamoya disease?0007064;Multisystemic smooth muscle dysfunction syndrome?0012811;Familial thoracic aortic aneurysm and aortic dissection?0002249	https://raresource.nih.gov/literature/gene/ACTA2	59	ENSG00000107796	130	https://pubmed.ncbi.nlm.nih.gov/?term=ACTA2	None	None	134
ACTB	actin beta	Baraitser-Winter cerebrofrontofacial syndrome?0005279;Becker nevus syndrome?0003856;Developmental malformations-deafness-dystonia syndrome?0009818	https://raresource.nih.gov/literature/gene/ACTB	60	ENSG00000075624	132	https://pubmed.ncbi.nlm.nih.gov/?term=ACTB	None	None	974
ACTC1	actin alpha cardiac muscle 1	Atrial septal defect, ostium secundum type?0005865;Familial isolated dilated cardiomyopathy?0002905;Left ventricular noncompaction?0010985	https://raresource.nih.gov/literature/gene/ACTC1	70	ENSG00000159251	143	https://pubmed.ncbi.nlm.nih.gov/?term=ACTC1	None	None	85
ACTG1	actin gamma 1	Baraitser-Winter cerebrofrontofacial syndrome?0005279;Coloboma of iris?0001434	https://raresource.nih.gov/literature/gene/ACTG1	71	ENSG00000184009	144	https://pubmed.ncbi.nlm.nih.gov/?term=ACTG1	None	None	375
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	131
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	498
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	450
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	221
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	250
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	24
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	257
ADA2	adenosine deaminase 2	Vasculitis due to ADA2 deficiency?0012383;Sneddon syndrome?0007664;Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/ADA2	51816	ENSG00000093072	1839	https://pubmed.ncbi.nlm.nih.gov/?term=ADA2	None	None	292
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	1367
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	597
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	2597
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	822
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	1522
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	666
ADAMTSL4	ADAMTS like 4	Isolated ectopia lentis?0012251;Ectopia lentis 2, isolated, autosomal recessive?0002060	https://raresource.nih.gov/literature/gene/ADAMTSL4	54507	ENSG00000143382	19706	https://pubmed.ncbi.nlm.nih.gov/?term=ADAMTSL4	None	None	815
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	535
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	793
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	635
ADGRG1	adhesion G protein-coupled receptor G1	Bilateral perisylvian polymicrogyria?0006011;Bilateral frontoparietal polymicrogyria?0010784	https://raresource.nih.gov/literature/gene/ADGRG1	9289	ENSG00000205336	4512	https://pubmed.ncbi.nlm.nih.gov/?term=ADGRG1	None	None	416
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	551
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	3318
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	539
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	244
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	446
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	514
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	346
AGA	aspartylglucosaminidase	Aspartylglucosaminuria?0005854	https://raresource.nih.gov/literature/gene/AGA	175	ENSG00000038002	318	https://pubmed.ncbi.nlm.nih.gov/?term=AGA	None	None	205
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	1770
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	579
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	171
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	823
AGPAT2	1-acylglycerol-3-phosphate O-acyltransferase 2	Congenital generalized lipodystrophy?0013388;Lipodystrophy, congenital generalized, type 1?0000084	https://raresource.nih.gov/literature/gene/AGPAT2	10555	ENSG00000169692	325	https://pubmed.ncbi.nlm.nih.gov/?term=AGPAT2	None	None	281
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
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	1226
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	325
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	274
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	1043
AHI1	Abelson helper integration site 1	Joubert syndrome?0006802;Retinitis pigmentosa?0005694;Joubert syndrome with ocular defect?0010168	https://raresource.nih.gov/literature/gene/AHI1	54806	ENSG00000135541	21575	https://pubmed.ncbi.nlm.nih.gov/?term=AHI1	None	None	None
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	936
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	474
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	129
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	178
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
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	177
AIP	aryl hydrocarbon receptor interacting protein	Prolactinoma?0004508;Familial isolated pituitary adenoma?0010959;Pituitary gigantism?0006506;Acromegaly?0005725	https://raresource.nih.gov/literature/gene/AIP	9049	ENSG00000110711	358	https://pubmed.ncbi.nlm.nih.gov/?term=AIP	None	None	220
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	287
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	462
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	161
AKAP9	A-kinase anchoring protein 9	Long qt syndrome 11?0010437;Romano-Ward syndrome?0003284;Brugada syndrome?0001030	https://raresource.nih.gov/literature/gene/AKAP9	10142	ENSG00000127914	379	https://pubmed.ncbi.nlm.nih.gov/?term=AKAP9	None	None	2302
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	152
AKT1	AKT serine/threonine kinase 1	Cowden syndrome?0006202;Proteus syndrome?0007475;Meningioma?0007015	https://raresource.nih.gov/literature/gene/AKT1	207	ENSG00000142208	391	https://pubmed.ncbi.nlm.nih.gov/?term=AKT1	None	None	222
AKT3	AKT serine/threonine kinase 3	Hemimegalencephaly?0002637;Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?0010341	https://raresource.nih.gov/literature/gene/AKT3	10000	ENSG00000117020	393	https://pubmed.ncbi.nlm.nih.gov/?term=AKT3	None	None	134
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	494
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	303
ALDH18A1	aldehyde dehydrogenase 18 family member A1	Autosomal dominant cutis laxa?0001639;Autosomal dominant spastic paraplegia type 9A?0009583	https://raresource.nih.gov/literature/gene/ALDH18A1	5832	ENSG00000059573	9722	https://pubmed.ncbi.nlm.nih.gov/?term=ALDH18A1	None	None	363
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	280
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	267
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	456
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	376
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	307
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	249
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	None
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	431
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	620
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	255
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	387
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	1052
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	292
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	274
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	254
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	302
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	5
ALK	ALK receptor tyrosine kinase	Inflammatory myofibroblastic tumor?0007146;Neuroblastoma?0007185;Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/ALK	238	ENSG00000171094	427	https://pubmed.ncbi.nlm.nih.gov/?term=ALK	None	None	2561
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	2552
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	404
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	440
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	337
ALS2	alsin Rho guanine nucleotide exchange factor ALS2	Juvenile primary lateral sclerosis?0004485;Juvenile amyotrophic lateral sclerosis?0011901;Infantile-onset ascending hereditary spastic paralysis?0004914	https://raresource.nih.gov/literature/gene/ALS2	57679	ENSG00000003393	443	https://pubmed.ncbi.nlm.nih.gov/?term=ALS2	None	None	740
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	308
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	226
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	300
AMELX	amelogenin X-linked	Amelogenesis imperfecta, type ie?0009943;Hypomaturation amelogenesis imperfecta?0008349	https://raresource.nih.gov/literature/gene/AMELX	265	ENSG00000125363	461	https://pubmed.ncbi.nlm.nih.gov/?term=AMELX	None	None	98
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	449
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	615
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	343
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	386
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	484
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	984
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	78
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
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	1109
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	1785
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	1287
ANKH	ANKH inorganic pyrophosphate transport regulator	Craniometaphyseal dysplasia, autosomal dominant?0001581;Familial calcium pyrophosphate deposition?0001292	https://raresource.nih.gov/literature/gene/ANKH	56172	ENSG00000154122	15492	https://pubmed.ncbi.nlm.nih.gov/?term=ANKH	None	None	240
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	617
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	456
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	2096
ANKRD26	ankyrin repeat domain containing 26	Thrombocytopenia 2?0005191;Familial platelet disorder with associated myeloid malignancy?0010352	https://raresource.nih.gov/literature/gene/ANKRD26	22852	ENSG00000107890	29186	https://pubmed.ncbi.nlm.nih.gov/?term=ANKRD26	None	None	925
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	768
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	1204
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	1973
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	477
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	519
ANOS1	anosmin 1	Kallmann syndrome?0010771;Hypogonadotropic hypogonadism 1 with or without anosmia?0003071	https://raresource.nih.gov/literature/gene/ANOS1	3730	ENSG00000011201	6211	https://pubmed.ncbi.nlm.nih.gov/?term=ANOS1	None	None	271
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	390
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	289
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	781
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	1060
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	27
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	197
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	248
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	42
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	499
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	777
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	418
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	578
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	35
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	88
APC	APC regulator of WNT signaling pathway	Cenani-Lenz syndrome?0005084;Gardner syndrome?0006482;Desmoid tumor?0001820	https://raresource.nih.gov/literature/gene/APC	324	ENSG00000134982	583	https://pubmed.ncbi.nlm.nih.gov/?term=APC	None	None	1419
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	1885
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	237
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
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	168
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	216
APOB	apolipoprotein B	Hypercholesterolemia, familial, 2?0008588;Hypobetalipoproteinemia, familial, 1?0002876;Homozygous familial hypercholesterolemia?0010416	https://raresource.nih.gov/literature/gene/APOB	338	ENSG00000084674	603	https://pubmed.ncbi.nlm.nih.gov/?term=APOB	None	None	2492
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	None
APOE	apolipoprotein E	Dysbetalipoproteinemia?0006703;Alzheimer disease 2?0012799;Sea-blue histiocytosis?0008241	https://raresource.nih.gov/literature/gene/APOE	348	ENSG00000130203	613	https://pubmed.ncbi.nlm.nih.gov/?term=APOE	None	None	250
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	589
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	416
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	723
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	162
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	695
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	168
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	186
AR	androgen receptor	Complete androgen insensitivity syndrome?0010597;Kennedy disease?0006818;Partial androgen insensitivity syndrome?0005692	https://raresource.nih.gov/literature/gene/AR	367	ENSG00000169083	644	https://pubmed.ncbi.nlm.nih.gov/?term=AR	None	None	576
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	150
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	754
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	13
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	919
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	698
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	134
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	1619
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	1257
ARID1B	AT-rich interaction domain 1B	Coffin-Siris syndrome?0006124;6q25 microdeletion syndrome?0003764	https://raresource.nih.gov/literature/gene/ARID1B	57492	ENSG00000049618	18040	https://pubmed.ncbi.nlm.nih.gov/?term=ARID1B	None	None	1801
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	1809
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	273
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	238
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	74
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	132
ARL6	ADP ribosylation factor like GTPase 6	Bardet-biedl syndrome 3?0000822;Retinitis pigmentosa?0005694;Bardet-biedl syndrome 1?0000820;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/ARL6	84100	ENSG00000113966	13210	https://pubmed.ncbi.nlm.nih.gov/?term=ARL6	None	None	86
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	422
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	638
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	1019
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	375
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	662
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	396
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	1615
ARX	aristaless related homeobox	Infantile spasms syndrome?0007887;Early infantile epileptic encephalopathy?0009255;Corpus callosum agenesis-abnormal genitalia syndrome?0004528;Intellectual developmental disorder, x-linked 29?0005614;X-linked lissencephaly with abnormal genitalia?0012491;Partington syndrome?0004235	https://raresource.nih.gov/literature/gene/ARX	170302	ENSG00000004848	18060	https://pubmed.ncbi.nlm.nih.gov/?term=ARX	None	None	252
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	150
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	2824
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	None
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	1958
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	428
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	986
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	1261
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	322
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	340
ATL1	atlastin GTPase 1	Hereditary sensory and autonomic neuropathy type 1?0006635;Autosomal dominant spastic paraplegia type 3?0005041	https://raresource.nih.gov/literature/gene/ATL1	51062	ENSG00000198513	11231	https://pubmed.ncbi.nlm.nih.gov/?term=ATL1	None	None	202
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	272
ATM	ATM serine/threonine kinase	Mantle cell lymphoma?0006969;Ataxia-telangiectasia?0005862;Familial prostate cancer?0004520;B-cell chronic lymphocytic leukemia?0006104	https://raresource.nih.gov/literature/gene/ATM	472	ENSG00000149311	795	https://pubmed.ncbi.nlm.nih.gov/?term=ATM	None	None	1622
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	865
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	1364
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	803
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	392
ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	Alternating hemiplegia of childhood?0000011;Rapid-onset dystonia-parkinsonism?0009628;Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome?0001188	https://raresource.nih.gov/literature/gene/ATP1A3	478	ENSG00000105409	801	https://pubmed.ncbi.nlm.nih.gov/?term=ATP1A3	None	None	349
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	655
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	368
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	314
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	494
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	10
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	316
ATP6V1B2	ATPase H+ transporting V1 subunit B2	DOORS syndrome?0001685;Zimmermann-Laband syndrome?0000385;Autosomal dominant deafness-onychodystrophy syndrome?0004732	https://raresource.nih.gov/literature/gene/ATP6V1B2	526	ENSG00000147416	854	https://pubmed.ncbi.nlm.nih.gov/?term=ATP6V1B2	None	None	53
ATP7A	ATPase copper transporting alpha	Menkes disease?0001521;Occipital horn syndrome?0004017;Hirschsprung disease?0006660	https://raresource.nih.gov/literature/gene/ATP7A	538	ENSG00000165240	869	https://pubmed.ncbi.nlm.nih.gov/?term=ATP7A	None	None	437
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	998
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	570
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	602
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	1023
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	927
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	664
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	638
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	286
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	707
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	828
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
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	None
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	202
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	172
AVPR2	arginine vasopressin receptor 2	Nephrogenic diabetes insipidus?0007178;Nephrogenic syndrome of inappropriate antidiuresis?0010306	https://raresource.nih.gov/literature/gene/AVPR2	554	ENSG00000126895	897	https://pubmed.ncbi.nlm.nih.gov/?term=AVPR2	None	None	347
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	610
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	45
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	279
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	366
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	300
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	319
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	705
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	256
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	214
B9D1	B9 domain containing 1	Meckel syndrome?0003436;Joubert syndrome?0006802	https://raresource.nih.gov/literature/gene/B9D1	27077	ENSG00000108641	24123	https://pubmed.ncbi.nlm.nih.gov/?term=B9D1	None	None	139
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	124
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	377
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	569
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	32
BAP1	BRCA1 associated protein 1	Meningioma?0007015;BAP1-related tumor predisposition syndrome?0013219;Uveal melanoma?0008621;Familial melanoma?0003460;Pleural mesothelioma?0007026	https://raresource.nih.gov/literature/gene/BAP1	8314	ENSG00000163930	950	https://pubmed.ncbi.nlm.nih.gov/?term=BAP1	None	None	370
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	1323
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	58
BBS1	Bardet-Biedl syndrome 1	Bardet-biedl syndrome 1?0000820;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBS1	582	ENSG00000174483	966	https://pubmed.ncbi.nlm.nih.gov/?term=BBS1	None	None	12
BBS10	Bardet-Biedl syndrome 10	Bardet-biedl syndrome 10?0010209;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBS10	79738	ENSG00000179941	26291	https://pubmed.ncbi.nlm.nih.gov/?term=BBS10	None	None	372
BBS12	Bardet-Biedl syndrome 12	Bardet-biedl syndrome 12?0010211;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBS12	166379	ENSG00000181004	26648	https://pubmed.ncbi.nlm.nih.gov/?term=BBS12	None	None	387
BBS2	Bardet-Biedl syndrome 2	Bardet-biedl syndrome 2?0000821;Retinitis pigmentosa?0005694;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBS2	583	ENSG00000125124	967	https://pubmed.ncbi.nlm.nih.gov/?term=BBS2	None	None	394
BBS4	Bardet-Biedl syndrome 4	Bardet-biedl syndrome 4?0000823;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBS4	585	ENSG00000140463	969	https://pubmed.ncbi.nlm.nih.gov/?term=BBS4	None	None	326
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	13
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	317
BBS9	Bardet-Biedl syndrome 9	Bardet-biedl syndrome 9?0010208;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/BBS9	27241	ENSG00000122507	30000	https://pubmed.ncbi.nlm.nih.gov/?term=BBS9	None	None	1929
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	86
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	826
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	84
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	310
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	764
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	230
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	727
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	1934
BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	GRACILE syndrome?0000001;Björnstad syndrome?0000022;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	223
BDNF	brain derived neurotrophic factor	WAGR syndrome?0005528;Congenital central hypoventilation syndrome?0008535	https://raresource.nih.gov/literature/gene/BDNF	627	ENSG00000176697	1033	https://pubmed.ncbi.nlm.nih.gov/?term=BDNF	None	None	211
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	359
BEST1	bestrophin 1	Autosomal dominant vitreoretinochoroidopathy?0005507;Adult-onset foveomacular vitelliform dystrophy?0010909;Best vitelliform macular dystrophy?0000182;Autosomal recessive bestrophinopathy?0010301;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/BEST1	7439	ENSG00000167995	12703	https://pubmed.ncbi.nlm.nih.gov/?term=BEST1	None	None	336
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
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	173
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	207
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	1083
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	502
BIN1	bridging integrator 1	Autosomal recessive centronuclear myopathy?0012718;Autosomal dominant centronuclear myopathy?0012719	https://raresource.nih.gov/literature/gene/BIN1	274	ENSG00000136717	1052	https://pubmed.ncbi.nlm.nih.gov/?term=BIN1	None	None	346
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	622
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	1147
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	727
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	231
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	1847
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	355
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	487
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	208
BMPR1B	bone morphogenetic protein receptor type 1B	Fibular aplasia-complex brachydactyly syndrome?0009879;Brachydactyly type A2?0000979;Brachydactyly type C?0000986;Acromesomelic dysplasia, Grebe type?0001300;Brachydactyly type A1?0000978	https://raresource.nih.gov/literature/gene/BMPR1B	658	ENSG00000138696	1077	https://pubmed.ncbi.nlm.nih.gov/?term=BMPR1B	None	None	264
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	419
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	696
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	1144
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	1384
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	427
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
BRAF	B-Raf proto-oncogene, serine/threonine kinase	Craniopharyngioma?0010486;Langerhans cell histiocytosis?0006858;Classic hairy cell leukemia?0006560;Differentiated thyroid carcinoma?0012027;Cardiofaciocutaneous syndrome?0009146;Syringocystadenoma papilliferum?0005100;Noonan syndrome with multiple lentigines?0001100	https://raresource.nih.gov/literature/gene/BRAF	673	ENSG00000157764	1097	https://pubmed.ncbi.nlm.nih.gov/?term=BRAF	None	None	236
BRCA1	BRCA1 DNA repair associated	Familial pancreatic carcinoma?0004206;Breast-ovarian cancer, familial, susceptibility to, 1?0012351;Familial prostate cancer?0004520;Cholangiocarcinoma?0009304;Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/BRCA1	672	ENSG00000012048	1100	https://pubmed.ncbi.nlm.nih.gov/?term=BRCA1	None	None	4729
BRCA2	BRCA2 DNA repair associated	Nephroblastoma?0007892;Familial pancreatic carcinoma?0004206;Breast-ovarian cancer, familial, susceptibility to, 2?0012352;Familial prostate cancer?0004520;Cholangiocarcinoma?0009304;Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/BRCA2	675	ENSG00000139618	1101	https://pubmed.ncbi.nlm.nih.gov/?term=BRCA2	None	None	1738
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	2041
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	558
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	1034
BSCL2	BSCL2 lipid droplet biogenesis associated, seipin	Autosomal dominant spastic paraplegia type 17?0004219;Congenital generalized lipodystrophy?0013388	https://raresource.nih.gov/literature/gene/BSCL2	26580	ENSG00000168000	15832	https://pubmed.ncbi.nlm.nih.gov/?term=BSCL2	None	None	272
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	218
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	382
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	134
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	556
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	470
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	1140
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	474
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	276
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	353
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	388
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	402
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	435
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	149
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	344
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	328
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	93
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	1446
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	368
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	724
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	400
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	386
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	118
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	231
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	309
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	414
CABP4	calcium binding protein 4	Congenital stationary night blindness?0003995;Autosomal dominant nocturnal frontal lobe epilepsy?0011918	https://raresource.nih.gov/literature/gene/CABP4	57010	ENSG00000175544	1386	https://pubmed.ncbi.nlm.nih.gov/?term=CABP4	None	None	240
CACNA1A	calcium voltage-gated channel subunit alpha1 A	Familial paroxysmal ataxia?0009602;Familial or sporadic hemiplegic migraine?0010768;Alternating hemiplegia of childhood?0000011;Spinocerebellar ataxia type 6?0010351;Lennox-Gastaut syndrome?0009912	https://raresource.nih.gov/literature/gene/CACNA1A	773	ENSG00000141837	1388	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1A	None	None	1577
CACNA1C	calcium voltage-gated channel subunit alpha1 C	Brugada syndrome?0001030;Brugada syndrome 3?0010361;Romano-Ward syndrome?0003284	https://raresource.nih.gov/literature/gene/CACNA1C	775	ENSG00000151067	1390	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1C	None	None	923
CACNA1F	calcium voltage-gated channel subunit alpha1 F	Congenital stationary night blindness?0003995;Cone rod dystrophy?0010790;Cone-rod dystrophy, x-linked, 3?0010654;Åland Islands eye disease?0010574	https://raresource.nih.gov/literature/gene/CACNA1F	778	ENSG00000102001	1393	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1F	None	None	735
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	2703
CACNA1S	calcium voltage-gated channel subunit alpha1 S	Thyrotoxic periodic paralysis?0010814;Hypokalemic periodic paralysis?0006729;Malignant hyperthermia of anesthesia?0006964	https://raresource.nih.gov/literature/gene/CACNA1S	779	ENSG00000081248	1397	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA1S	None	None	1180
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	1259
CACNA2D4	calcium voltage-gated channel auxiliary subunit alpha2delta 4	Retinal cone dystrophy 4?0010650;Congenital stationary night blindness?0003995;Cone rod dystrophy?0010790	https://raresource.nih.gov/literature/gene/CACNA2D4	93589	ENSG00000151062	20202	https://pubmed.ncbi.nlm.nih.gov/?term=CACNA2D4	None	None	781
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	425
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	303
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	149
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	1060
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	22
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	23
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	99
CALR	calreticulin	Budd-Chiari syndrome?0005968;Primary myelofibrosis?0008618;Essential thrombocythemia?0006594	https://raresource.nih.gov/literature/gene/CALR	811	ENSG00000179218	1455	https://pubmed.ncbi.nlm.nih.gov/?term=CALR	None	None	565
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	380
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	674
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	298
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	530
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	543
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	2398
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	791
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	994
CASK	calcium/calmodulin dependent serine protein kinase	Early infantile epileptic encephalopathy?0009255;X-linked intellectual disability, Najm type?0012669	https://raresource.nih.gov/literature/gene/CASK	8573	ENSG00000147044	1497	https://pubmed.ncbi.nlm.nih.gov/?term=CASK	None	None	146
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	319
CASP8	caspase 8	Autoimmune lymphoproliferative syndrome with recurrent viral infections?0009796;Adult hepatocellular carcinoma?0006608	https://raresource.nih.gov/literature/gene/CASP8	841	ENSG00000064012	1509	https://pubmed.ncbi.nlm.nih.gov/?term=CASP8	None	None	228
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	284
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	267
CASR	calcium sensing receptor	Familial hypocalciuric hypercalcemia type 1?0002796;Hereditary chronic pancreatitis?0006632;Neonatal severe primary hyperparathyroidism?0002838;Autosomal dominant hypocalcemia?0002877	https://raresource.nih.gov/literature/gene/CASR	846	ENSG00000036828	1514	https://pubmed.ncbi.nlm.nih.gov/?term=CASR	None	None	490
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	2873
CAT	catalase	Acatalasemia?0000363	https://raresource.nih.gov/literature/gene/CAT	847	ENSG00000121691	1516	https://pubmed.ncbi.nlm.nih.gov/?term=CAT	None	None	317
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	731
CAV1	caveolin 1	Limited cutaneous systemic sclerosis?0001053;Diffuse cutaneous systemic sclerosis?0009751;Congenital generalized lipodystrophy?0013388;Lipodystrophy, congenital generalized, type 3?0013389	https://raresource.nih.gov/literature/gene/CAV1	857	ENSG00000105974	1527	https://pubmed.ncbi.nlm.nih.gov/?term=CAV1	None	None	343
CAV3	caveolin 3	Rippling muscle disease?0009164;Romano-Ward syndrome?0003284;Long qt syndrome 9?0010435	https://raresource.nih.gov/literature/gene/CAV3	859	ENSG00000182533	1529	https://pubmed.ncbi.nlm.nih.gov/?term=CAV3	None	None	133
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	237
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	199
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	433
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	483
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	126
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	419
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	180
CC2D2A	coiled-coil and C2 domain containing 2A	Joubert syndrome with hepatic defect?0001410;Meckel syndrome?0003436;Joubert syndrome with oculorenal defect?0009455	https://raresource.nih.gov/literature/gene/CC2D2A	57545	ENSG00000048342	29253	https://pubmed.ncbi.nlm.nih.gov/?term=CC2D2A	None	None	907
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
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	292
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
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	1882
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	None
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	274
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	495
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	801
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	426
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	271
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	432
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	1375
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	944
CCN2	cellular communication network factor 2	Limited cutaneous systemic sclerosis?0001053;Diffuse cutaneous systemic sclerosis?0009751	https://raresource.nih.gov/literature/gene/CCN2	1490	ENSG00000118523	2500	https://pubmed.ncbi.nlm.nih.gov/?term=CCN2	None	None	510
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	416
CCND1	cyclin D1	Mantle cell lymphoma?0006969;Von Hippel-Lindau disease?0007855;Multiple myeloma?0007108;B-cell chronic lymphocytic leukemia?0006104	https://raresource.nih.gov/literature/gene/CCND1	595	ENSG00000110092	1582	https://pubmed.ncbi.nlm.nih.gov/?term=CCND1	None	None	363
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	129
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	1056
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	258
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	None
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	390
CCR6	C-C motif chemokine receptor 6	Limited cutaneous systemic sclerosis?0001053;Diffuse cutaneous systemic sclerosis?0009751	https://raresource.nih.gov/literature/gene/CCR6	1235	ENSG00000112486	1607	https://pubmed.ncbi.nlm.nih.gov/?term=CCR6	None	None	359
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	1726
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	302
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	97
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	253
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	363
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	133
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	87
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	396
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	141
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	112
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	142
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	332
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	884
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	665
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	244
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	167
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	206
CDH1	cadherin 1	Hereditary diffuse gastric cancer?0010900;Familial prostate cancer?0004520;Blepharo-cheilo-odontic syndrome?0002071	https://raresource.nih.gov/literature/gene/CDH1	999	ENSG00000039068	1748	https://pubmed.ncbi.nlm.nih.gov/?term=CDH1	None	None	1873
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	923
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	715
CDH23	cadherin related 23	Usher syndrome type 1?0005435;Prolactinoma?0004508;Familial isolated pituitary adenoma?0010959;Cushing disease?0012867	https://raresource.nih.gov/literature/gene/CDH23	64072	ENSG00000107736	13733	https://pubmed.ncbi.nlm.nih.gov/?term=CDH23	None	None	2407
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	549
CDHR1	cadherin related family member 1	Cone rod dystrophy?0010790;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/CDHR1	92211	ENSG00000148600	14550	https://pubmed.ncbi.nlm.nih.gov/?term=CDHR1	None	None	586
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
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	462
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	3099
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	423
CDKL5	cyclin dependent kinase like 5	Atypical Rett syndrome?0004694;Early infantile epileptic encephalopathy?0009255;Infantile spasms syndrome?0007887;CDKL5-deficiency disorder?0012173	https://raresource.nih.gov/literature/gene/CDKL5	6792	ENSG00000008086	11411	https://pubmed.ncbi.nlm.nih.gov/?term=CDKL5	None	None	311
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	240
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	181
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	345
CDKN2A	cyclin dependent kinase inhibitor 2A	Familial atypical multiple mole melanoma syndrome?0009281;Melanoma and neural system tumor syndrome?0008468;Familial pancreatic carcinoma?0004206;Familial melanoma?0003460;Li-Fraumeni syndrome?0006902	https://raresource.nih.gov/literature/gene/CDKN2A	1029	ENSG00000147889	1787	https://pubmed.ncbi.nlm.nih.gov/?term=CDKN2A	None	None	202
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	253
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	251
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	682
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	576
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	340
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	460
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	181
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	892
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	1204
CENPJ	centromere protein J	Autosomal recessive primary microcephaly?0012117;Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/CENPJ	55835	ENSG00000151849	17272	https://pubmed.ncbi.nlm.nih.gov/?term=CENPJ	None	None	747
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	570
CEP120	centrosomal protein 120	Joubert syndrome?0006802;Jeune syndrome?0003049;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	555
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	1235
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	610
CEP152	centrosomal protein 152	Autosomal recessive primary microcephaly?0012117;Seckel syndrome?0008562	https://raresource.nih.gov/literature/gene/CEP152	22995	ENSG00000103995	29298	https://pubmed.ncbi.nlm.nih.gov/?term=CEP152	None	None	903
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	878
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	98
CEP290	centrosomal protein 290	Senior-Loken syndrome?0000322;Bardet-Biedl syndrome?0006866;Leber congenital amaurosis?0000634;Joubert syndrome with oculorenal defect?0009455;Meckel syndrome?0003436	https://raresource.nih.gov/literature/gene/CEP290	80184	ENSG00000198707	29021	https://pubmed.ncbi.nlm.nih.gov/?term=CEP290	None	None	1262
CEP41	centrosomal protein 41	Joubert syndrome?0006802;Joubert syndrome with ocular defect?0010168	https://raresource.nih.gov/literature/gene/CEP41	95681	ENSG00000106477	12370	https://pubmed.ncbi.nlm.nih.gov/?term=CEP41	None	None	726
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	285
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	713
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	1545
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	343
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	214
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	1052
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	90
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	334
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	457
CFAP418	cilia and flagella associated protein 418	Cone rod dystrophy?0010790;Retinitis pigmentosa?0005694;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/CFAP418	157657	ENSG00000156172	27232	https://pubmed.ncbi.nlm.nih.gov/?term=CFAP418	None	None	None
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	2314
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	799
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	248
CFH	complement factor H	Familial drusen?0001912;Dense deposit disease?0008555;HELLP syndrome?0008528	https://raresource.nih.gov/literature/gene/CFH	3075	ENSG00000000971	4883	https://pubmed.ncbi.nlm.nih.gov/?term=CFH	None	None	648
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	487
CFI	complement factor I	Familial drusen?0001912;HELLP syndrome?0008528	https://raresource.nih.gov/literature/gene/CFI	3426	ENSG00000205403	5394	https://pubmed.ncbi.nlm.nih.gov/?term=CFI	None	None	62
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	52
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	157
CFTR	CF transmembrane conductance regulator	Aquagenic palmoplantar keratoderma?0012991;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	https://raresource.nih.gov/literature/gene/CFTR	1080	ENSG00000001626	1884	https://pubmed.ncbi.nlm.nih.gov/?term=CFTR	None	None	843
CHAMP1	chromosome alignment maintaining phosphoprotein 1	Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features?0013539;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/CHAMP1	283489	ENSG00000198824	20311	https://pubmed.ncbi.nlm.nih.gov/?term=CHAMP1	None	None	415
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	124
CHD2	chromodomain helicase DNA binding protein 2	Lennox-Gastaut syndrome?0009912;Developmental and epileptic encephalopathy 94?0013197;Myoclonic-astatic epilepsy?0002169	https://raresource.nih.gov/literature/gene/CHD2	1106	ENSG00000173575	1917	https://pubmed.ncbi.nlm.nih.gov/?term=CHD2	None	None	682
CHD7	chromodomain helicase DNA binding protein 7	CHARGE syndrome?0000029;Kallmann syndrome?0010771;Omenn syndrome?0008198;Hypogonadotropic hypogonadism 5 with or without anosmia?0010773	https://raresource.nih.gov/literature/gene/CHD7	55636	ENSG00000171316	20626	https://pubmed.ncbi.nlm.nih.gov/?term=CHD7	None	None	1444
CHEK2	checkpoint kinase 2	Osteosarcoma?0007284;Familial prostate cancer?0004520;Li-Fraumeni syndrome?0006902	https://raresource.nih.gov/literature/gene/CHEK2	11200	ENSG00000183765	16627	https://pubmed.ncbi.nlm.nih.gov/?term=CHEK2	None	None	360
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	232
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	242
CHMP2B	charged multivesicular body protein 2B	Behavioral variant of frontotemporal dementia?0007392;Semantic dementia?0010792;Amyotrophic lateral sclerosis?0005786;Progressive non-fluent aphasia?0010793	https://raresource.nih.gov/literature/gene/CHMP2B	25978	ENSG00000083937	24537	https://pubmed.ncbi.nlm.nih.gov/?term=CHMP2B	None	None	110
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	220
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	185
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	271
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	256
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	1469
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	580
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	772
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	277
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	284
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	318
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	481
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	383
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	225
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	313
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	345
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	540
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	267
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	127
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	3209
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	817
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
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	57
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	955
CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	Atrial septal defect, ostium secundum type?0005865;Tetralogy of Fallot?0002245;Atrial septal defect, sinus venosus type?0010696;Situs inversus totalis?0004883	https://raresource.nih.gov/literature/gene/CITED2	10370	ENSG00000164442	1987	https://pubmed.ncbi.nlm.nih.gov/?term=CITED2	None	None	271
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	393
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	1095
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	132
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	486
CLCN2	chloride voltage-gated channel 2	Juvenile myoclonic epilepsy?0006808;Familial hyperaldosteronism type II?0002789	https://raresource.nih.gov/literature/gene/CLCN2	1181	ENSG00000114859	2020	https://pubmed.ncbi.nlm.nih.gov/?term=CLCN2	None	None	560
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	588
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	1216
CLCNKB	chloride voltage-gated channel Kb	Gitelman syndrome?0008547;Bartter syndrome type 4?0010508;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	522
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	129
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	153
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	125
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	131
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	1431
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	716
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	315
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	288
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	985
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	375
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	180
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	145
CLTC	clathrin heavy chain	Inflammatory myofibroblastic tumor?0007146;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/CLTC	1213	ENSG00000141367	2092	https://pubmed.ncbi.nlm.nih.gov/?term=CLTC	None	None	905
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	158
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	61
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	405
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	318
CNGA3	cyclic nucleotide gated channel subunit alpha 3	Cone rod dystrophy?0010790;Achromatopsia 2?0009649	https://raresource.nih.gov/literature/gene/CNGA3	1261	ENSG00000144191	2150	https://pubmed.ncbi.nlm.nih.gov/?term=CNGA3	None	None	473
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	904
CNGB3	cyclic nucleotide gated channel subunit beta 3	Achromatopsia 3?0009650;Progressive cone dystrophy?0011897;Stargardt disease?0000181	https://raresource.nih.gov/literature/gene/CNGB3	54714	ENSG00000170289	2153	https://pubmed.ncbi.nlm.nih.gov/?term=CNGB3	None	None	2007
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	418
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	330
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	161
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	364
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
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	577
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	488
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	27
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	410
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	415
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	430
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	433
COL11A1	collagen type XI alpha 1 chain	Marshall syndrome?0006984;Fibrochondrogenesis?0002321	https://raresource.nih.gov/literature/gene/COL11A1	1301	ENSG00000060718	2186	https://pubmed.ncbi.nlm.nih.gov/?term=COL11A1	None	None	944
COL11A2	collagen type XI alpha 2 chain	Otospondylomegaepiphyseal dysplasia?0004130;Fibrochondrogenesis?0002321	https://raresource.nih.gov/literature/gene/COL11A2	1302	ENSG00000204248	2187	https://pubmed.ncbi.nlm.nih.gov/?term=COL11A2	None	None	1035
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	1687
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	2042
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	1746
COL1A1	collagen type I alpha 1 chain	Classical Ehlers-Danlos syndrome?0002088;Osteogenesis imperfecta type 3?0008695;Arthrochalasia Ehlers-Danlos syndrome?0002084;Dermatofibrosarcoma protuberans?0009569;Caffey disease?0001051;Osteogenesis imperfecta type 4?0008696;Osteogenesis imperfecta type 1?0008694;Osteogenesis imperfecta type 2?0010142	https://raresource.nih.gov/literature/gene/COL1A1	1277	ENSG00000108821	2197	https://pubmed.ncbi.nlm.nih.gov/?term=COL1A1	None	None	777
COL1A2	collagen type I alpha 2 chain	Osteogenesis imperfecta type 3?0008695;Arthrochalasia Ehlers-Danlos syndrome?0002084;Osteogenesis imperfecta type 4?0008696;Cardiac-valvular Ehlers-Danlos syndrome?0012613;Osteogenesis imperfecta type 1?0008694;Osteogenesis imperfecta type 2?0010142	https://raresource.nih.gov/literature/gene/COL1A2	1278	ENSG00000164692	2198	https://pubmed.ncbi.nlm.nih.gov/?term=COL1A2	None	None	3970
COL2A1	collagen type II alpha 1 chain	Platyspondylic dysplasia, Torrance type?0004382;Familial avascular necrosis of femoral head?0010914;Spondyloepimetaphyseal dysplasia congenita, Strudwick type?0000134;Kniest dysplasia?0006841;Spondylometaphyseal dysplasia, Schmidt type?0000504;Spondyloepiphyseal dysplasia with metatarsal shortening?0010220;Legg-Calvé-Perthes disease?0006874;Spondyloperipheral dysplasia-short ulna syndrome?0004994;Spondyloepiphyseal dysplasia congenita?0004987;Spondylometaphyseal dysplasia, 'corner fracture' type?0004991	https://raresource.nih.gov/literature/gene/COL2A1	1280	ENSG00000139219	2200	https://pubmed.ncbi.nlm.nih.gov/?term=COL2A1	None	None	757
COL3A1	collagen type III alpha 1 chain	Acrogeria?0006543;Vascular Ehlers-Danlos syndrome?0002082;Familial abdominal aortic aneurysm?0009181	https://raresource.nih.gov/literature/gene/COL3A1	1281	ENSG00000168542	2201	https://pubmed.ncbi.nlm.nih.gov/?term=COL3A1	None	None	663
COL4A1	collagen type IV alpha 1 chain	Familial porencephaly?0002258;Walker-Warburg syndrome?0002599;HANAC syndrome?0010889	https://raresource.nih.gov/literature/gene/COL4A1	1282	ENSG00000187498	2202	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A1	None	None	829
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	1005
COL4A3	collagen type IV alpha 3 chain	Autosomal recessive Alport syndrome?0000625;Genetic steroid-resistant nephrotic syndrome?0003946;Autosomal dominant Alport syndrome?0000624	https://raresource.nih.gov/literature/gene/COL4A3	1285	ENSG00000169031	2204	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A3	None	None	856
COL4A4	collagen type IV alpha 4 chain	Autosomal recessive Alport syndrome?0000625;Autosomal dominant Alport syndrome?0000624	https://raresource.nih.gov/literature/gene/COL4A4	1286	ENSG00000081052	2206	https://pubmed.ncbi.nlm.nih.gov/?term=COL4A4	None	None	2188
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	2190
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	881
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	2227
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	1670
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	895
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	1095
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	2042
COL7A1	collagen type VII alpha 1 chain	Self-improving dystrophic epidermolysis bullosa?0010010;Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form?0006308;Autosomal dominant generalized dystrophic epidermolysis bullosa?0002139;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	1779
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	475
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	669
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	688
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	352
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	177
COMP	cartilage oligomeric matrix protein	Pseudoachondroplasia?0004540;Multiple epiphyseal dysplasia type 1?0002180	https://raresource.nih.gov/literature/gene/COMP	1311	ENSG00000105664	2227	https://pubmed.ncbi.nlm.nih.gov/?term=COMP	None	None	449
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	430
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	637
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	265
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	544
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	376
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
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	323
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	72
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	91
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	299
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	181
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	167
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	37
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	25
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	40
CP	ceruloplasmin	Aceruloplasminemia?0009499	https://raresource.nih.gov/literature/gene/CP	1356	ENSG00000047457	2295	https://pubmed.ncbi.nlm.nih.gov/?term=CP	None	None	559
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	428
CPLANE1	ciliogenesis and planar polarity effector complex subunit 1	Orofaciodigital syndrome type 6?0004412;Joubert syndrome?0006802;Monomelic amyotrophy?0009697	https://raresource.nih.gov/literature/gene/CPLANE1	65250	ENSG00000197603	25801	https://pubmed.ncbi.nlm.nih.gov/?term=CPLANE1	None	None	3275
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	263
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	294
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	757
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	405
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	602
CRB1	crumbs cell polarity complex component 1	Leber congenital amaurosis?0000634;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/CRB1	23418	ENSG00000134376	2343	https://pubmed.ncbi.nlm.nih.gov/?term=CRB1	None	None	762
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	2525
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	702
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	1289
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	297
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	309
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	621
CRTAP	cartilage associated protein	Osteogenesis imperfecta, type vii?0008701;Osteogenesis imperfecta type 3?0008695;Osteogenesis imperfecta type 2?0010142;Osteogenesis imperfecta type 4?0008696	https://raresource.nih.gov/literature/gene/CRTAP	10491	ENSG00000170275	2379	https://pubmed.ncbi.nlm.nih.gov/?term=CRTAP	None	None	286
CRX	cone-rod homeobox	Cone rod dystrophy?0010790;Leber congenital amaurosis?0000634;Cone-rod dystrophy 2?0006145;Retinitis pigmentosa?0005694	https://raresource.nih.gov/literature/gene/CRX	1406	ENSG00000105392	2383	https://pubmed.ncbi.nlm.nih.gov/?term=CRX	None	None	199
CRYAA	crystallin alpha A	Total early-onset cataract?0001159;Early-onset anterior polar cataract?0001140;Cataract-microcornea syndrome?0001155	https://raresource.nih.gov/literature/gene/CRYAA	1409	ENSG00000160202	2388	https://pubmed.ncbi.nlm.nih.gov/?term=CRYAA	None	None	28
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	98
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	134
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	136
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	166
CRYBB2	crystallin beta B2	Cerulean cataract?0009508;Cataract-microcornea syndrome?0001155;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	109
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	189
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	123
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	143
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	118
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	570
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	728
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	577
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	450
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	259
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	22
CSPP1	centrosome and spindle pole associated protein 1	Meckel syndrome?0003436;Joubert syndrome?0006802	https://raresource.nih.gov/literature/gene/CSPP1	79848	ENSG00000104218	26193	https://pubmed.ncbi.nlm.nih.gov/?term=CSPP1	None	None	2522
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	125
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	58
CSTB	cystatin B	Autosomal recessive hypohidrotic ectodermal dysplasia?0002057;Progressive myoclonic epilepsy type 1?0003876	https://raresource.nih.gov/literature/gene/CSTB	1476	ENSG00000160213	2482	https://pubmed.ncbi.nlm.nih.gov/?term=CSTB	None	None	70
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	487
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	724
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	202
CTLA4	cytotoxic T-lymphocyte associated protein 4	Classic mycosis fungoides?0003863;Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency?0012316;Granulomatosis with polyangiitis?0007880;Sézary syndrome?0007629	https://raresource.nih.gov/literature/gene/CTLA4	1493	ENSG00000163599	2505	https://pubmed.ncbi.nlm.nih.gov/?term=CTLA4	None	None	90
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	362
CTNNB1	catenin beta 1	Severe intellectual disability-progressive spastic diplegia syndrome?0003505;Craniopharyngioma?0010486;Adult hepatocellular carcinoma?0006608;Pilomatrixoma?0009452;Pediatric hepatocellular carcinoma?0009331;Familial exudative vitreoretinopathy?0001613;Desmoid tumor?0001820	https://raresource.nih.gov/literature/gene/CTNNB1	1499	ENSG00000168036	2514	https://pubmed.ncbi.nlm.nih.gov/?term=CTNNB1	None	None	249
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	1010
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	1531
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	463
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
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	260
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	865
CTSC	cathepsin C	Haim-Munk syndrome?0000044;Papillon-Lefèvre syndrome?0003100	https://raresource.nih.gov/literature/gene/CTSC	1075	ENSG00000109861	2528	https://pubmed.ncbi.nlm.nih.gov/?term=CTSC	None	None	303
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	37
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	466
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	152
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	2244
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	332
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	1059
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	1749
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	1838
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	130
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	76
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	221
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	194
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	752
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	266
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	None
CYP11B1	cytochrome P450 family 11 subfamily B member 1	Familial hyperaldosteronism type I?0002790;Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency?0005658	https://raresource.nih.gov/literature/gene/CYP11B1	1584	ENSG00000160882	2591	https://pubmed.ncbi.nlm.nih.gov/?term=CYP11B1	None	None	1389
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	1210
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	235
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	273
CYP1B1	cytochrome P450 family 1 subfamily B member 1	Congenital glaucoma?0002485;Peters anomaly?0007377	https://raresource.nih.gov/literature/gene/CYP1B1	1545	ENSG00000138061	2597	https://pubmed.ncbi.nlm.nih.gov/?term=CYP1B1	None	None	430
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	364
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	329
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	315
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	302
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	419
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	407
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	1395
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	668
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	1250
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	490
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	450
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	332
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
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	1308
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	289
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	228
DCC	DCC netrin 1 receptor	Familial congenital mirror movements?0012551;Kallmann syndrome?0010771;Horizontal gaze palsy with progressive scoliosis?0012682	https://raresource.nih.gov/literature/gene/DCC	1630	ENSG00000187323	2701	https://pubmed.ncbi.nlm.nih.gov/?term=DCC	None	None	874
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	1901
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	429
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	660
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	508
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	368
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	234
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	205
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	1074
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	245
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	289
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	336
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	439
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	651
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	739
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	362
DEAF1	DEAF1 transcription factor	Intellectual disability-epilepsy-extrapyramidal syndrome?0013474;Smith-Magenis syndrome?0008197;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/DEAF1	10522	ENSG00000177030	14677	https://pubmed.ncbi.nlm.nih.gov/?term=DEAF1	None	None	506
DEPDC5	DEP domain containing 5, GATOR1 subcomplex subunit	Familial focal epilepsy with variable foci?0013295;Autosomal dominant nocturnal frontal lobe epilepsy?0011918;Autosomal dominant epilepsy with auditory features?0002257	https://raresource.nih.gov/literature/gene/DEPDC5	9681	ENSG00000100150	18423	https://pubmed.ncbi.nlm.nih.gov/?term=DEPDC5	None	None	791
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	294
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
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
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
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
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
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	175
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	246
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	383
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	164
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	66
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	195
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	300
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	1577
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	1504
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	704
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	752
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	None
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	604
DKC1	dyskerin pseudouridine synthase 1	Dyskeratosis congenita?0010905;Hoyeraal-Hreidarsson syndrome?0000346;Dyskeratosis congenita, x-linked?0002007	https://raresource.nih.gov/literature/gene/DKC1	1736	ENSG00000130826	2890	https://pubmed.ncbi.nlm.nih.gov/?term=DKC1	None	None	116
DKK1	dickkopf WNT signaling pathway inhibitor 1	Arnold-Chiari malformation type I?0009233;Idiopathic juvenile osteoporosis?0006760	https://raresource.nih.gov/literature/gene/DKK1	22943	ENSG00000107984	2891	https://pubmed.ncbi.nlm.nih.gov/?term=DKK1	None	None	338
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	1008
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	537
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	1002
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	479
DLL4	delta like canonical Notch ligand 4	Adams-Oliver syndrome?0005739;Aplasia cutis congenita?0005835	https://raresource.nih.gov/literature/gene/DLL4	54567	ENSG00000128917	2910	https://pubmed.ncbi.nlm.nih.gov/?term=DLL4	None	None	339
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	596
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	148
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	518
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	362
DMD	dystrophin	Duchenne muscular dystrophy?0006291;Becker muscular dystrophy?0005900;Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/DMD	1756	ENSG00000198947	2928	https://pubmed.ncbi.nlm.nih.gov/?term=DMD	None	None	1589
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	641
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	1306
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	611
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
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	628
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	412
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	294
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	308
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
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	5717
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	5500
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	11115
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	2726
DNAH9	dynein axonemal heavy chain 9	Primary ciliary dyskinesia?0004484;Situs inversus totalis?0004883	https://raresource.nih.gov/literature/gene/DNAH9	1770	ENSG00000007174	2953	https://pubmed.ncbi.nlm.nih.gov/?term=DNAH9	None	None	5619
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	1628
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	409
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	363
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	179
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	55
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	633
DNAJC30	DnaJ heat shock protein family (Hsp40) member C30	Leber hereditary optic neuropathy?0006870;Williams syndrome?0007891	https://raresource.nih.gov/literature/gene/DNAJC30	84277	ENSG00000176410	16410	https://pubmed.ncbi.nlm.nih.gov/?term=DNAJC30	None	None	399
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	108
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	87
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	62
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	197
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	5604
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	57
DNM1L	dynamin 1 like	Autosomal dominant optic atrophy, classic form?0009890;Optic atrophy 5?0010201	https://raresource.nih.gov/literature/gene/DNM1L	10059	ENSG00000087470	2973	https://pubmed.ncbi.nlm.nih.gov/?term=DNM1L	None	None	211
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	475
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	1576
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	730
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	898
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	463
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	828
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	1483
DOCK8	dedicator of cytokinesis 8	Combined immunodeficiency due to DOCK8 deficiency?0002816;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/DOCK8	81704	ENSG00000107099	19191	https://pubmed.ncbi.nlm.nih.gov/?term=DOCK8	None	None	1433
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	755
DOLK	dolichol kinase	DK1-CDG?0012393;Familial isolated dilated cardiomyopathy?0002905	https://raresource.nih.gov/literature/gene/DOLK	22845	ENSG00000175283	23406	https://pubmed.ncbi.nlm.nih.gov/?term=DOLK	None	None	282
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	169
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	350
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	155
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	58
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	46
DPP6	dipeptidyl peptidase like 6	Autosomal dominant primary microcephaly?0003605;Idiopathic ventricular fibrillation, non Brugada type?0004227	https://raresource.nih.gov/literature/gene/DPP6	1804	ENSG00000130226	3010	https://pubmed.ncbi.nlm.nih.gov/?term=DPP6	None	None	1786
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	1169
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	431
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	583
DPYS	dihydropyrimidinase	Dihydropyrimidinuria?0012347	https://raresource.nih.gov/literature/gene/DPYS	1807	ENSG00000147647	3013	https://pubmed.ncbi.nlm.nih.gov/?term=DPYS	None	None	997
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	140
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	458
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	490
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	438
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	572
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	1614
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	546
DSP	desmoplakin	Skin fragility-woolly hair-palmoplantar keratoderma syndrome?0005231;Carvajal syndrome?0005595;Familial isolated dilated cardiomyopathy?0002905;Idiopathic pulmonary fibrosis?0008609;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	1657
DSPP	dentin sialophosphoprotein	Dentinogenesis imperfecta type 3?0010144;Dentinogenesis imperfecta type 2?0012796;Dentin dysplasia type II?0001806;Dentin dysplasia type I?0001807	https://raresource.nih.gov/literature/gene/DSPP	1834	ENSG00000152591	3054	https://pubmed.ncbi.nlm.nih.gov/?term=DSPP	None	None	2136
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	457
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	592
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	199
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	653
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
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	434
DYNC1H1	dynein cytoplasmic 1 heavy chain 1	DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy?0013519;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/DYNC1H1	1778	ENSG00000197102	2961	https://pubmed.ncbi.nlm.nih.gov/?term=DYNC1H1	None	None	1498
DYNC2H1	dynein cytoplasmic 2 heavy chain 1	Short rib-polydactyly syndrome, Majewski type?0004833;Short rib-polydactyly syndrome, Verma-Naumoff type?0004835;Short rib-polydactyly syndrome, Saldino-Noonan type?0004834;Jeune syndrome?0003049	https://raresource.nih.gov/literature/gene/DYNC2H1	79659	ENSG00000187240	2962	https://pubmed.ncbi.nlm.nih.gov/?term=DYNC2H1	None	None	2202
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
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
DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	Ellis Van Creveld syndrome?0001301;Jeune syndrome?0003049	https://raresource.nih.gov/literature/gene/DYNC2LI1	51626	ENSG00000138036	24595	https://pubmed.ncbi.nlm.nih.gov/?term=DYNC2LI1	None	None	215
DYSF	dysferlin	Dysferlin-related limb-girdle muscular dystrophy R2?0008574;Miyoshi myopathy?0009676	https://raresource.nih.gov/literature/gene/DYSF	8291	ENSG00000135636	3097	https://pubmed.ncbi.nlm.nih.gov/?term=DYSF	None	None	1324
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	868
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	319
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	23
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	414
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	188
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	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	133
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	277
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	272
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	114
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	114
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	160
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	144
EDNRB	endothelin receptor type B	Hirschsprung disease?0006660;Waardenburg-Shah syndrome?0005524;Waardenburg syndrome type 2?0005520	https://raresource.nih.gov/literature/gene/EDNRB	1910	ENSG00000136160	3180	https://pubmed.ncbi.nlm.nih.gov/?term=EDNRB	None	None	201
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	328
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	186
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	543
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	215
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	261
EFHC1	EF-hand domain containing 1	Juvenile myoclonic epilepsy?0006808;Juvenile absence epilepsy?0002162	https://raresource.nih.gov/literature/gene/EFHC1	114327	ENSG00000096093	16406	https://pubmed.ncbi.nlm.nih.gov/?term=EFHC1	None	None	837
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	1144
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	122
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	381
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	608
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	3845
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	223
EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	Bifunctional enzyme deficiency?0004539;Primary Fanconi renotubular syndrome?0009118	https://raresource.nih.gov/literature/gene/EHHADH	1962	ENSG00000113790	3247	https://pubmed.ncbi.nlm.nih.gov/?term=EHHADH	None	None	431
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	37
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	570
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	493
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	837
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	78
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	139
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	217
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	526
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	201
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	287
ELN	elastin	Autosomal dominant cutis laxa?0001639;Supravalvular aortic stenosis?0000743;Williams syndrome?0007891;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	287
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	134
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	1614
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	148
EML1	EMAP like 1	Subcortical band heterotopia?0001904;Band heterotopia?0002250	https://raresource.nih.gov/literature/gene/EML1	2009	ENSG00000066629	3330	https://pubmed.ncbi.nlm.nih.gov/?term=EML1	None	None	367
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	154
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	586
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	2087
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	298
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	532
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	328
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	550
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	391
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	432
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	368
EPCAM	epithelial cell adhesion molecule	Lynch syndrome?0009905;Congenital tufting enteropathy?0010630	https://raresource.nih.gov/literature/gene/EPCAM	4072	ENSG00000119888	11529	https://pubmed.ncbi.nlm.nih.gov/?term=EPCAM	None	None	222
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	1315
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	648
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	955
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	1576
EPHB4	EPH receptor B4	Capillary malformation-arteriovenous malformation?0011904;Vein of Galen aneurysmal malformation?0005467;Meige disease?0003324	https://raresource.nih.gov/literature/gene/EPHB4	2050	ENSG00000196411	3395	https://pubmed.ncbi.nlm.nih.gov/?term=EPHB4	None	None	1142
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	274
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	279
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	1025
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	789
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	520
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	1130
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	1464
ERBB3	erb-b2 receptor tyrosine kinase 3	Lethal congenital contracture syndrome type 2?0009177;Hirschsprung disease?0006660	https://raresource.nih.gov/literature/gene/ERBB3	2065	ENSG00000065361	3431	https://pubmed.ncbi.nlm.nih.gov/?term=ERBB3	None	None	692
ERBB4	erb-b2 receptor tyrosine kinase 4	Amyotrophic lateral sclerosis?0005786;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/ERBB4	2066	ENSG00000178568	3432	https://pubmed.ncbi.nlm.nih.gov/?term=ERBB4	None	None	617
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	1208
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	199
ERCC2	ERCC excision repair 2, TFIIH core complex helicase subunit	COFS syndrome?0006027;Xeroderma pigmentosum?0007910;Trichothiodystrophy?0012109	https://raresource.nih.gov/literature/gene/ERCC2	2068	ENSG00000104884	3434	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC2	None	None	601
ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	Xeroderma pigmentosum?0007910;Trichothiodystrophy?0012109	https://raresource.nih.gov/literature/gene/ERCC3	2071	ENSG00000163161	3435	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC3	None	None	414
ERCC4	ERCC excision repair 4, endonuclease catalytic subunit	Cockayne syndrome type 1?0001415;Xeroderma pigmentosum?0007910;Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/ERCC4	2072	ENSG00000175595	3436	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC4	None	None	570
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	19
ERCC6	ERCC excision repair 6, chromatin remodeling factor	Cockayne syndrome type 2?0001420;Cockayne syndrome type 1?0001415;UV-sensitive syndrome?0010947;Cockayne syndrome type 3?0001417;COFS syndrome?0006027	https://raresource.nih.gov/literature/gene/ERCC6	2074	ENSG00000225830	3438	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC6	None	None	809
ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	Cockayne syndrome type 3?0001417;Cockayne syndrome type 2?0001420;UV-sensitive syndrome?0010947;Cockayne syndrome type 1?0001415	https://raresource.nih.gov/literature/gene/ERCC8	1161	ENSG00000049167	3439	https://pubmed.ncbi.nlm.nih.gov/?term=ERCC8	None	None	240
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	347
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	478
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	307
ERLIN2	ER lipid raft associated 2	Juvenile primary lateral sclerosis?0004485;Autosomal recessive spastic paraplegia type 18?0004922	https://raresource.nih.gov/literature/gene/ERLIN2	11160	ENSG00000147475	1356	https://pubmed.ncbi.nlm.nih.gov/?term=ERLIN2	None	None	127
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	1184
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	1199
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	755
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	123
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	580
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	653
ETV6	ETS variant transcription factor 6	Fibrosarcoma?0002327;Familial platelet disorder with associated myeloid malignancy?0010352;Chronic myelomonocytic leukemia?0008225;Differentiated thyroid carcinoma?0012027;Congenital mesoblastic nephroma?0001493	https://raresource.nih.gov/literature/gene/ETV6	2120	ENSG00000139083	3495	https://pubmed.ncbi.nlm.nih.gov/?term=ETV6	None	None	212
EVC	EvC ciliary complex subunit 1	Ellis Van Creveld syndrome?0001301;Acrofacial dysostosis, Weyers type?0000497	https://raresource.nih.gov/literature/gene/EVC	2121	ENSG00000072840	3497	https://pubmed.ncbi.nlm.nih.gov/?term=EVC	None	None	805
EVC2	EvC ciliary complex subunit 2	Ellis Van Creveld syndrome?0001301;Acrofacial dysostosis, Weyers type?0000497	https://raresource.nih.gov/literature/gene/EVC2	132884	ENSG00000173040	19747	https://pubmed.ncbi.nlm.nih.gov/?term=EVC2	None	None	1050
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	305
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	824
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	635
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	145
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	528
EXT1	exostosin glycosyltransferase 1	Exostoses, multiple, type i?0002204;Trichorhinophalangeal syndrome type 2?0007801;Chondrosarcoma?0006055;Multiple osteochondromas?0007035	https://raresource.nih.gov/literature/gene/EXT1	2131	ENSG00000182197	3512	https://pubmed.ncbi.nlm.nih.gov/?term=EXT1	None	None	359
EXT2	exostosin glycosyltransferase 2	Exostoses, multiple, type ii?0002205;Multiple osteochondromas?0007035;Potocki-Shaffer syndrome?0009762	https://raresource.nih.gov/literature/gene/EXT2	2132	ENSG00000151348	3513	https://pubmed.ncbi.nlm.nih.gov/?term=EXT2	None	None	405
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
EYA1	EYA transcriptional coactivator and phosphatase 1	BOR syndrome?0010147;Branchiootic syndrome?0010148;Otofaciocervical syndrome?0004169	https://raresource.nih.gov/literature/gene/EYA1	2138	ENSG00000104313	3519	https://pubmed.ncbi.nlm.nih.gov/?term=EYA1	None	None	None
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	2134
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	188
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	350
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	375
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	359
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	432
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	349
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	307
F5	coagulation factor V	Congenital factor V deficiency?0002237;Budd-Chiari syndrome?0005968	https://raresource.nih.gov/literature/gene/F5	2153	ENSG00000198734	3542	https://pubmed.ncbi.nlm.nih.gov/?term=F5	None	None	1228
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	305
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	250
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	282
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	378
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	423
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	1166
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	667
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	434
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	372
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	427
FAN1	FANCD2 and FANCI associated nuclease 1	Lynch syndrome?0009905;Karyomegalic interstitial nephritis?0011003	https://raresource.nih.gov/literature/gene/FAN1	22909	ENSG00000198690	29170	https://pubmed.ncbi.nlm.nih.gov/?term=FAN1	None	None	656
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	1374
FANCB	FA complementation group B	VACTERL with hydrocephalus?0000272;Fanconi anemia?0006425	https://raresource.nih.gov/literature/gene/FANCB	2187	ENSG00000181544	3583	https://pubmed.ncbi.nlm.nih.gov/?term=FANCB	None	None	780
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	2260
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	847
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	359
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	273
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	1437
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	784
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	232
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	2391
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	173
FAS	Fas cell surface death receptor	Behçet disease?0000848;Vogt-Koyanagi-Harada disease?0007862;Autoimmune lymphoproliferative syndrome?0008686	https://raresource.nih.gov/literature/gene/FAS	355	ENSG00000026103	11920	https://pubmed.ncbi.nlm.nih.gov/?term=FAS	None	None	149
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	141
FAT4	FAT atypical cadherin 4	Hennekam syndrome?0003318;Cerebrofacioarticular syndrome?0005456	https://raresource.nih.gov/literature/gene/FAT4	79633	ENSG00000196159	23109	https://pubmed.ncbi.nlm.nih.gov/?term=FAT4	None	None	2570
FBLN5	fibulin 5	Autosomal recessive cutis laxa type 1?0008480;Hereditary sensorimotor neuropathy with hyperelastic skin?0011010;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	254
FBN1	fibrillin 1	Isolated ectopia lentis?0012251;Weill-Marchesani syndrome?0004936;Geleophysic dysplasia?0002449;Shprintzen-Goldberg syndrome?0004861;Stiff skin syndrome?0005025;Familial thoracic aortic aneurysm and aortic dissection?0002249;Acromicric dysplasia?0000007;Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome?0002452;Marfan syndrome type 1?0006975	https://raresource.nih.gov/literature/gene/FBN1	2200	ENSG00000166147	3603	https://pubmed.ncbi.nlm.nih.gov/?term=FBN1	None	None	1196
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	1538
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	192
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	336
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	305
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	None
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	202
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	214
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	374
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	814
FGA	fibrinogen alpha chain	Familial afibrinogenemia?0005761;Familial hypofibrinogenemia?0002887;Familial dysfibrinogenemia?0002004	https://raresource.nih.gov/literature/gene/FGA	2243	ENSG00000171560	3661	https://pubmed.ncbi.nlm.nih.gov/?term=FGA	None	None	871
FGB	fibrinogen beta chain	Familial afibrinogenemia?0005761;Familial hypofibrinogenemia?0002887;Familial dysfibrinogenemia?0002004	https://raresource.nih.gov/literature/gene/FGB	2244	ENSG00000171564	3662	https://pubmed.ncbi.nlm.nih.gov/?term=FGB	None	None	656
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	353
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	87
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	143
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	99
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	344
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	147
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	189
FGF8	fibroblast growth factor 8	Kallmann syndrome?0010771;Hypogonadotropic hypogonadism 6 with or without anosmia?0010774	https://raresource.nih.gov/literature/gene/FGF8	2253	ENSG00000107831	3686	https://pubmed.ncbi.nlm.nih.gov/?term=FGF8	None	None	132
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	79
FGFR1	fibroblast growth factor receptor 1	Osteoglosphonic dysplasia?0004142;Hypogonadotropic hypogonadism 2 with or without anosmia?0003070;Septo-optic dysplasia spectrum?0007627;Gliosarcoma?0005653;Kallmann syndrome?0010771;Encephalocraniocutaneous lipomatosis?0002108;Hartsfield syndrome?0002725	https://raresource.nih.gov/literature/gene/FGFR1	2260	ENSG00000077782	3688	https://pubmed.ncbi.nlm.nih.gov/?term=FGFR1	None	None	1832
FGFR2	fibroblast growth factor receptor 2	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome?0000332;Familial scaphocephaly syndrome, McGillivray type?0003426;Crouzon syndrome?0006206;Apert syndrome?0005833;Lacrimoauriculodentodigital syndrome?0006848;Saethre-Chotzen syndrome?0007598;FGFR2-related bent bone dysplasia?0010965;Jackson-Weiss syndrome?0006796	https://raresource.nih.gov/literature/gene/FGFR2	2263	ENSG00000066468	3689	https://pubmed.ncbi.nlm.nih.gov/?term=FGFR2	None	None	346
FGFR3	fibroblast growth factor receptor 3	Thanatophoric dysplasia type 2?0001402;Severe achondroplasia-developmental delay-acanthosis nigricans syndrome?0009443;Lacrimoauriculodentodigital syndrome?0006848;Saethre-Chotzen syndrome?0007598;Hypochondroplasia?0006724;Camptodactyly-tall stature-scoliosis-hearing loss syndrome?0010012;Muenke syndrome?0007097;Achondroplasia?0008173;Gliosarcoma?0005653;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	721
FGG	fibrinogen gamma chain	Familial afibrinogenemia?0005761;Familial hypofibrinogenemia?0002887;Familial dysfibrinogenemia?0002004	https://raresource.nih.gov/literature/gene/FGG	2266	ENSG00000171557	3694	https://pubmed.ncbi.nlm.nih.gov/?term=FGG	None	None	538
FH	fumarate hydratase	Hereditary pheochromocytoma-paraganglioma?0011984;Hereditary leiomyomatosis and renal cell cancer?0010096;Fumaric aciduria?0006476	https://raresource.nih.gov/literature/gene/FH	2271	ENSG00000091483	3700	https://pubmed.ncbi.nlm.nih.gov/?term=FH	None	None	265
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	292
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	100
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	382
FIG4	FIG4 phosphoinositide 5-phosphatase	Yunis-Varon syndrome?0000331;Amyotrophic lateral sclerosis?0005786;Bilateral parasagittal parieto-occipital polymicrogyria?0010785	https://raresource.nih.gov/literature/gene/FIG4	9896	ENSG00000112367	16873	https://pubmed.ncbi.nlm.nih.gov/?term=FIG4	None	None	1856
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	250
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	413
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	372
FKRP	fukutin related protein	Muscle-eye-brain disease?0000156;Walker-Warburg syndrome?0002599;FKRP-related limb-girdle muscular dystrophy R9?0012533	https://raresource.nih.gov/literature/gene/FKRP	79147	ENSG00000181027	17997	https://pubmed.ncbi.nlm.nih.gov/?term=FKRP	None	None	348
FKTN	fukutin	Congenital muscular dystrophy, Fukuyama type?0006475;Muscle-eye-brain disease?0000156;Familial isolated dilated cardiomyopathy?0002905;Walker-Warburg syndrome?0002599	https://raresource.nih.gov/literature/gene/FKTN	2218	ENSG00000106692	3622	https://pubmed.ncbi.nlm.nih.gov/?term=FKTN	None	None	None
FLCN	folliculin	Hereditary clear cell renal cell carcinoma?0009571;Familial spontaneous pneumothorax?0004997;Birt-Hogg-Dubé syndrome?0002322	https://raresource.nih.gov/literature/gene/FLCN	201163	ENSG00000154803	27310	https://pubmed.ncbi.nlm.nih.gov/?term=FLCN	None	None	364
FLI1	Fli-1 proto-oncogene, ETS transcription factor	Paris-Trousseau thrombocytopenia?0004224;Skeletal Ewing sarcoma?0006390;Jacobsen syndrome?0000307	https://raresource.nih.gov/literature/gene/FLI1	2313	ENSG00000151702	3749	https://pubmed.ncbi.nlm.nih.gov/?term=FLI1	None	None	523
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	1902
FLNA	filamin A	Periventricular nodular heterotopia 1?0007371;Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked?0003017;Melnick-Needles syndrome?0007011;Frontometaphyseal dysplasia?0000826;Otopalatodigital syndrome type 2?0005802;Otopalatodigital syndrome type 1?0005121;Periventricular nodular heterotopia?0012724;Neuronal intestinal pseudoobstruction?0003928;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	3337
FLNB	filamin B	Boomerang dysplasia?0000933;Spondylocarpotarsal synostosis?0004974;Atelosteogenesis type III?0010608;Atelosteogenesis type I?0009287;Larsen syndrome?0006860	https://raresource.nih.gov/literature/gene/FLNB	2317	ENSG00000136068	3755	https://pubmed.ncbi.nlm.nih.gov/?term=FLNB	None	None	1509
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	267
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	1101
FLT4	fms related receptor tyrosine kinase 4	Tetralogy of Fallot?0002245;Lymphatic malformation 1?0003328;Milroy disease?0007220	https://raresource.nih.gov/literature/gene/FLT4	2324	ENSG00000037280	3767	https://pubmed.ncbi.nlm.nih.gov/?term=FLT4	None	None	872
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	299
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	328
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	122
FN1	fibronectin 1	Spondylometaphyseal dysplasia, 'corner fracture' type?0004991;Glomerulopathy with fibronectin deposits 2?0009914	https://raresource.nih.gov/literature/gene/FN1	2335	ENSG00000115414	3778	https://pubmed.ncbi.nlm.nih.gov/?term=FN1	None	None	1306
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	113
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	450
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	745
FOXC1	forkhead box C1	Isolated aniridia?0005816;Axenfeld-Rieger syndrome?0005701;Anterior segment dysgenesis 3?0002978;Peters anomaly?0007377	https://raresource.nih.gov/literature/gene/FOXC1	2296	ENSG00000054598	3800	https://pubmed.ncbi.nlm.nih.gov/?term=FOXC1	None	None	628
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	440
FOXE1	forkhead box E1	Familial papillary or follicular thyroid carcinoma?0008488;Bamforth-Lazarus syndrome?0000414;Differentiated thyroid carcinoma?0012027	https://raresource.nih.gov/literature/gene/FOXE1	2304	ENSG00000178919	3806	https://pubmed.ncbi.nlm.nih.gov/?term=FOXE1	None	None	323
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	273
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	289
FOXI1	forkhead box I1	Pendred syndrome?0004271;Autosomal recessive distal renal tubular acidosis?0004666	https://raresource.nih.gov/literature/gene/FOXI1	2299	ENSG00000168269	3815	https://pubmed.ncbi.nlm.nih.gov/?term=FOXI1	None	None	572
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	574
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	437
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	755
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	282
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	1137
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	143
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	299
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	4998
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	1613
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	4132
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	446
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	812
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	498
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	63
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	405
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	552
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	106
FTL	ferritin light chain	Neuroferritinopathy?0010686;Hereditary hyperferritinemia-cataract syndrome?0002806	https://raresource.nih.gov/literature/gene/FTL	2512	ENSG00000087086	3999	https://pubmed.ncbi.nlm.nih.gov/?term=FTL	None	None	104
FUCA1	alpha-L-fucosidase 1	Fucosidosis?0006473	https://raresource.nih.gov/literature/gene/FUCA1	2517	ENSG00000179163	4006	https://pubmed.ncbi.nlm.nih.gov/?term=FUCA1	None	None	263
FUS	FUS RNA binding protein	Juvenile amyotrophic lateral sclerosis?0011901;Amyotrophic lateral sclerosis?0005786;Myxoid/round cell liposarcoma?0007157	https://raresource.nih.gov/literature/gene/FUS	2521	ENSG00000089280	4010	https://pubmed.ncbi.nlm.nih.gov/?term=FUS	None	None	337
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	273
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	285
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	7
FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	Total early-onset cataract?0001159;Cataract 18?0009892	https://raresource.nih.gov/literature/gene/FYCO1	79443	ENSG00000163820	14673	https://pubmed.ncbi.nlm.nih.gov/?term=FYCO1	None	None	864
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	600
FZD4	frizzled class receptor 4	Familial exudative vitreoretinopathy?0001613;Retinopathy of prematurity?0005695	https://raresource.nih.gov/literature/gene/FZD4	8322	ENSG00000174804	4042	https://pubmed.ncbi.nlm.nih.gov/?term=FZD4	None	None	260
FZD5	frizzled class receptor 5	Coloboma of optic disc?0001438;Coloboma of macula?0001436;Coloboma of eye lens?0001433;Coloboma of iris?0001434	https://raresource.nih.gov/literature/gene/FZD5	7855	ENSG00000163251	4043	https://pubmed.ncbi.nlm.nih.gov/?term=FZD5	None	None	761
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
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	647
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	846
GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	Juvenile myoclonic epilepsy?0006808;Dravet syndrome?0010430	https://raresource.nih.gov/literature/gene/GABRA1	2554	ENSG00000022355	4075	https://pubmed.ncbi.nlm.nih.gov/?term=GABRA1	None	None	155
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	114
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	291
GABRD	gamma-aminobutyric acid type A receptor subunit delta	1p36 deletion syndrome?0006082;Juvenile myoclonic epilepsy?0006808	https://raresource.nih.gov/literature/gene/GABRD	2563	ENSG00000187730	4084	https://pubmed.ncbi.nlm.nih.gov/?term=GABRD	None	None	747
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	155
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	261
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	430
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	318
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	1284
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	245
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	391
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	496
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	1222
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	1294
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	396
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
GATA1	GATA binding protein 1	Congenital erythropoietic porphyria?0004446;Transient myeloproliferative syndrome?0012765;Blackfan-Diamond anemia?0006274	https://raresource.nih.gov/literature/gene/GATA1	2623	ENSG00000102145	4170	https://pubmed.ncbi.nlm.nih.gov/?term=GATA1	None	None	143
GATA2	GATA binding protein 2	Monocytopenia with susceptibility to infections?0010934;Deafness-lymphedema-leukemia syndrome?0013030	https://raresource.nih.gov/literature/gene/GATA2	2624	ENSG00000179348	4171	https://pubmed.ncbi.nlm.nih.gov/?term=GATA2	None	None	259
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	258
GATA4	GATA binding protein 4	Atrial septal defect, ostium secundum type?0005865;Tetralogy of Fallot?0002245;Familial atrial fibrillation?0009740;8p23.1 microdeletion syndrome?0003769	https://raresource.nih.gov/literature/gene/GATA4	2626	ENSG00000136574	4173	https://pubmed.ncbi.nlm.nih.gov/?term=GATA4	None	None	1264
GATA5	GATA binding protein 5	Tetralogy of Fallot?0002245;Familial atrial fibrillation?0009740	https://raresource.nih.gov/literature/gene/GATA5	140628	ENSG00000130700	15802	https://pubmed.ncbi.nlm.nih.gov/?term=GATA5	None	None	647
GATA6	GATA binding protein 6	Familial atrial fibrillation?0009740;Congenital diaphragmatic hernia?0001481;Atrial septal defect, ostium secundum type?0005865;Pancreatic hypoplasia-diabetes-congenital heart disease syndrome?0000347;Tetralogy of Fallot?0002245	https://raresource.nih.gov/literature/gene/GATA6	2627	ENSG00000141448	4174	https://pubmed.ncbi.nlm.nih.gov/?term=GATA6	None	None	594
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	506
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	213
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	169
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	390
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	302
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	670
GCH1	GTP cyclohydrolase 1	Autosomal dominant dopa-responsive dystonia?0009817;GTP cyclohydrolase I deficiency?0002844	https://raresource.nih.gov/literature/gene/GCH1	2643	ENSG00000131979	4193	https://pubmed.ncbi.nlm.nih.gov/?term=GCH1	None	None	134
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	1659
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	230
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	348
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	177
GDF1	growth differentiation factor 1	Tetralogy of Fallot?0002245;Right sided atrial isomerism?0006795	https://raresource.nih.gov/literature/gene/GDF1	2657	ENSG00000130283	4214	https://pubmed.ncbi.nlm.nih.gov/?term=GDF1	None	None	359
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	299
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	198
GDF5	growth differentiation factor 5	Fibular aplasia-complex brachydactyly syndrome?0009879;Brachydactyly type A2?0000979;Proximal symphalangism?0008182;Multiple synostoses syndrome?0003836;Brachydactyly type C?0000986;Acromesomelic dysplasia, Hunter-Thompson type?0000506;Multiple synostoses syndrome 2?0009916;Angel-shaped phalango-epiphyseal dysplasia?0000671;Acromesomelic dysplasia, Grebe type?0001300;Brachydactyly type A1?0000978	https://raresource.nih.gov/literature/gene/GDF5	8200	ENSG00000125965	4220	https://pubmed.ncbi.nlm.nih.gov/?term=GDF5	None	None	306
GDF6	growth differentiation factor 6	Isolated Klippel-Feil syndrome?0010280;Leber congenital amaurosis?0000634;Colobomatous microphthalmia?0003644	https://raresource.nih.gov/literature/gene/GDF6	392255	ENSG00000156466	4221	https://pubmed.ncbi.nlm.nih.gov/?term=GDF6	None	None	1023
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	116
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	165
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	220
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	None
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
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	839
GH1	growth hormone 1	Isolated growth hormone deficiency type IA?0007399;Short stature due to growth hormone qualitative anomaly?0000408;Isolated growth hormone deficiency type IB?0003919;Isolated growth hormone deficiency type II?0001696	https://raresource.nih.gov/literature/gene/GH1	2688	ENSG00000259384	4261	https://pubmed.ncbi.nlm.nih.gov/?term=GH1	None	None	192
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	326
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	652
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
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
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
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	525
GJA1	gap junction protein alpha 1	Oculodentodigital dysplasia?0007239;Hypoplastic left heart syndrome?0006739;Autosomal dominant palmoplantar keratoderma and congenital alopecia?0000604;Craniometaphyseal dysplasia, autosomal recessive?0001582;Syndactyly type 3?0005088	https://raresource.nih.gov/literature/gene/GJA1	2697	ENSG00000152661	4274	https://pubmed.ncbi.nlm.nih.gov/?term=GJA1	None	None	207
GJA5	gap junction protein alpha 5	Tetralogy of Fallot?0002245;Familial atrial fibrillation?0009740	https://raresource.nih.gov/literature/gene/GJA5	2702	ENSG00000265107	4279	https://pubmed.ncbi.nlm.nih.gov/?term=GJA5	None	None	167
GJA8	gap junction protein alpha 8	Total early-onset cataract?0001159;Cataract-microcornea syndrome?0001155	https://raresource.nih.gov/literature/gene/GJA8	2703	ENSG00000121634	4281	https://pubmed.ncbi.nlm.nih.gov/?term=GJA8	None	None	309
GJB2	gap junction protein beta 2	KID syndrome?0003113;Deafness, autosomal recessive 1a?0001697;Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome?0003125;Keratoderma hereditarium mutilans?0003092;Palmoplantar keratoderma-deafness syndrome?0003094;Deafness, autosomal dominant 3a?0009933	https://raresource.nih.gov/literature/gene/GJB2	2706	ENSG00000165474	4284	https://pubmed.ncbi.nlm.nih.gov/?term=GJB2	None	None	204
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	213
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	160
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	348
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	1033
GLB1	galactosidase beta 1	GM1 gangliosidosis type 1?0006479;Mucopolysaccharidosis type 4B?0003786;GM1 gangliosidosis type 3?0002431;GM1 gangliosidosis type 2?0010126	https://raresource.nih.gov/literature/gene/GLB1	2720	ENSG00000170266	4298	https://pubmed.ncbi.nlm.nih.gov/?term=GLB1	None	None	403
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
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	353
GLI1	GLI family zinc finger 1	Ellis Van Creveld syndrome?0001301;Polydactyly of a biphalangeal thumb?0004417	https://raresource.nih.gov/literature/gene/GLI1	2735	ENSG00000111087	4317	https://pubmed.ncbi.nlm.nih.gov/?term=GLI1	None	None	1344
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	1092
GLI3	GLI family zinc finger 3	Polysyndactyly?0009903;Pallister-Hall syndrome?0007305;Tibial hemimelia?0008707;Acrocallosal syndrome?0005721;Greig cephalopolysyndactyly syndrome?0006550	https://raresource.nih.gov/literature/gene/GLI3	2737	ENSG00000106571	4319	https://pubmed.ncbi.nlm.nih.gov/?term=GLI3	None	None	3536
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	213
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	254
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	386
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	229
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	157
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	361
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	91
GMPPA	GDP-mannose pyrophosphorylase A	Alacrima, achalasia, and mental retardation syndrome?0012404;Triple A syndrome?0000457	https://raresource.nih.gov/literature/gene/GMPPA	29926	ENSG00000144591	22923	https://pubmed.ncbi.nlm.nih.gov/?term=GMPPA	None	None	255
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	206
GNA11	G protein subunit alpha 11	Familial hypocalciuric hypercalcemia type 2?0009758;Uveal melanoma?0008621;Autosomal dominant hypocalcemia?0002877	https://raresource.nih.gov/literature/gene/GNA11	2767	ENSG00000088256	4379	https://pubmed.ncbi.nlm.nih.gov/?term=GNA11	None	None	200
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	518
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	140
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	None
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	118
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	280
GNAS	GNAS complex locus	Pseudopseudohypoparathyroidism?0007860;Pseudohypoparathyroidism type 1C?0010681;Pseudohypoparathyroidism type 1B?0010680;Pseudohypoparathyroidism type 1A?0007486;Polyostotic fibrous dysplasia?0004213;McCune-Albright syndrome?0006995;Progressive osseous heteroplasia?0000109;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	1300
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	200
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	196
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	196
GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	Sialuria?0004865;GNE myopathy?0009493	https://raresource.nih.gov/literature/gene/GNE	10020	ENSG00000159921	23657	https://pubmed.ncbi.nlm.nih.gov/?term=GNE	None	None	304
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	186
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	596
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	184
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	151
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	245
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	772
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	434
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	265
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	185
GP1BA	glycoprotein Ib platelet subunit alpha	Bernard-Soulier syndrome?0002470;Pseudo-von Willebrand disease?0008312;Fetal and neonatal alloimmune thrombocytopenia?0002295	https://raresource.nih.gov/literature/gene/GP1BA	2811	ENSG00000185245	4439	https://pubmed.ncbi.nlm.nih.gov/?term=GP1BA	None	None	507
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	180
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	505
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	134
GPC3	glypican 3	Nephroblastoma?0007892;Simpson-Golabi-Behmel syndrome?0007649	https://raresource.nih.gov/literature/gene/GPC3	2719	ENSG00000147257	4451	https://pubmed.ncbi.nlm.nih.gov/?term=GPC3	None	None	193
GPC4	glypican 4	Keipert syndrome?0000267;Simpson-Golabi-Behmel syndrome?0007649	https://raresource.nih.gov/literature/gene/GPC4	2239	ENSG00000076716	4452	https://pubmed.ncbi.nlm.nih.gov/?term=GPC4	None	None	178
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	305
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	195
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	290
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	424
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	248
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	173
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	767
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	1401
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	509
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	239
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	683
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	175
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	386
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	214
GRIN1	glutamate ionotropic receptor NMDA type subunit 1	Bilateral generalized polymicrogyria?0010786;Early infantile epileptic encephalopathy?0009255;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant?0013686;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/GRIN1	2902	ENSG00000176884	4584	https://pubmed.ncbi.nlm.nih.gov/?term=GRIN1	None	None	312
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	864
GRIN2B	glutamate ionotropic receptor NMDA type subunit 2B	Intellectual developmental disorder, autosomal dominant 6, with or without seizures?0012851;Infantile spasms syndrome?0007887;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/GRIN2B	2904	ENSG00000273079	4586	https://pubmed.ncbi.nlm.nih.gov/?term=GRIN2B	None	None	580
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	1188
GRK1	G protein-coupled receptor kinase 1	Congenital stationary night blindness?0003995;Oguchi disease?0010118	https://raresource.nih.gov/literature/gene/GRK1	6011	ENSG00000185974	10013	https://pubmed.ncbi.nlm.nih.gov/?term=GRK1	None	None	429
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	711
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	1175
GRN	granulin precursor	Behavioral variant of frontotemporal dementia?0007392;Semantic dementia?0010792;Progressive non-fluent aphasia?0010793	https://raresource.nih.gov/literature/gene/GRN	2896	ENSG00000030582	4601	https://pubmed.ncbi.nlm.nih.gov/?term=GRN	None	None	380
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	561
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	286
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	470
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	142
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	734
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	1115
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	1120
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	103
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	129
GUCY2D	guanylate cyclase 2D, retinal	Central areolar choroidal dystrophy?0010049;Cone rod dystrophy?0010790;Leber congenital amaurosis?0000634;Cone-rod dystrophy 6?0010656	https://raresource.nih.gov/literature/gene/GUCY2D	3000	ENSG00000132518	4689	https://pubmed.ncbi.nlm.nih.gov/?term=GUCY2D	None	None	794
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	384
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	329
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	229
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	460
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	447
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	None
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
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	678
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	389
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	414
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	1206
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	175
HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	Mitochondrial trifunctional protein deficiency?0003684;Acute fatty liver of pregnancy?0009578;Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency?0006867	https://raresource.nih.gov/literature/gene/HADHA	3030	ENSG00000084754	4801	https://pubmed.ncbi.nlm.nih.gov/?term=HADHA	None	None	398
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	243
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	396
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	52
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	294
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	580
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	276
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	371
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	168
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	96
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	68
HBB	hemoglobin subunit beta	Sickle cell-hemoglobin D disease syndrome?0012458;Hemoglobin E disease?0002641;Hemoglobin M disease?0013007;Sickle cell-hemoglobin C disease syndrome?0006584;Sickle cell-beta-thalassemia disease syndrome?0010333;Hemoglobin C disease?0002640;Sickle cell anemia?0008614	https://raresource.nih.gov/literature/gene/HBB	3043	ENSG00000244734	4827	https://pubmed.ncbi.nlm.nih.gov/?term=HBB	None	None	134
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	86
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	732
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	106
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	1262
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	259
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	None
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	319
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	224
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	163
HESX1	HESX homeobox 1	Septo-optic dysplasia spectrum?0007627;Combined pituitary hormone deficiencies, genetic forms?0010602;Kallmann syndrome?0010771;Pituitary stalk interruption syndrome?0013209	https://raresource.nih.gov/literature/gene/HESX1	8820	ENSG00000163666	4877	https://pubmed.ncbi.nlm.nih.gov/?term=HESX1	None	None	115
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	313
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	498
HFE	homeostatic iron regulator	Symptomatic form of hemochromatosis type 1?0010417;Cystic fibrosis?0006233	https://raresource.nih.gov/literature/gene/HFE	3077	ENSG00000010704	4886	https://pubmed.ncbi.nlm.nih.gov/?term=HFE	None	None	217
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	274
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	398
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
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
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	196
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	1066
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	55
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	1000
HIVEP2	HIVEP zinc finger 2	Intellectual developmental disorder, autosomal dominant 43?0013179;Autosomal dominant non-syndromic intellectual disability?0012107	https://raresource.nih.gov/literature/gene/HIVEP2	3097	ENSG00000010818	4921	https://pubmed.ncbi.nlm.nih.gov/?term=HIVEP2	None	None	1228
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	574
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	408
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	2525
HLA-B	major histocompatibility complex, class I, B	Reactive arthritis?0005693;Behçet disease?0000848;Giant cell arteritis?0009615;Takayasu arteritis?0007730;Stevens-Johnson syndrome?0007700	https://raresource.nih.gov/literature/gene/HLA-B	3106	ENSG00000234745	4932	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-B	None	None	2383
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	365
HLA-DPB1	major histocompatibility complex, class II, DP beta 1	Granulomatosis with polyangiitis?0007880;Chronic beryllium disease?0000867	https://raresource.nih.gov/literature/gene/HLA-DPB1	3115	ENSG00000223865	4940	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-DPB1	None	None	423
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	1028
HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	Bullous pemphigoid?0005972;Narcolepsy type 1?0007162;Idiopathic achalasia?0005708;Pediatric multiple sclerosis?0010443	https://raresource.nih.gov/literature/gene/HLA-DQB1	3119	ENSG00000179344	4944	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-DQB1	None	None	521
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	258
HLA-DRB1	major histocompatibility complex, class II, DR beta 1	Diffuse cutaneous systemic sclerosis?0009751;Bullous pemphigoid?0005972;Narcolepsy type 1?0007162;Autoimmune pulmonary alveolar proteinosis?0007499;Pediatric multiple sclerosis?0010443;Systemic-onset juvenile idiopathic arthritis?0010966;Giant cell arteritis?0009615;Limited systemic sclerosis?0009749;Limited cutaneous systemic sclerosis?0001053;Follicular lymphoma?0002356;Sarcoidosis?0007607	https://raresource.nih.gov/literature/gene/HLA-DRB1	3123	ENSG00000196126	4948	https://pubmed.ncbi.nlm.nih.gov/?term=HLA-DRB1	None	None	1566
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	455
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	200
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	299
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	191
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	295
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	192
HNF1A	HNF1 homeobox A	MODY?0003697;Chromophobe renal cell carcinoma?0006064	https://raresource.nih.gov/literature/gene/HNF1A	6927	ENSG00000135100	11621	https://pubmed.ncbi.nlm.nih.gov/?term=HNF1A	None	None	385
HNF1B	HNF1 homeobox B	17q12 microdeletion syndrome?0013297;Medullary sponge kidney?0000232;Bilateral multicystic dysplastic kidney?0009517;Familial prostate cancer?0004520	https://raresource.nih.gov/literature/gene/HNF1B	6928	ENSG00000275410	11630	https://pubmed.ncbi.nlm.nih.gov/?term=HNF1B	None	None	275
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	284
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	151
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	645
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	364
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	138
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	713
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	770
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	831
HOXD13	homeobox D13	VACTERL/VATER association?0005443;Syndactyly type 5?0005089;Brachydactyly type E?0000987	https://raresource.nih.gov/literature/gene/HOXD13	3239	ENSG00000128714	5136	https://pubmed.ncbi.nlm.nih.gov/?term=HOXD13	None	None	265
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	84
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	251
HPGD	15-hydroxyprostaglandin dehydrogenase	Pachydermoperiostosis?0007299;Cranio-osteoarthropathy?0001564	https://raresource.nih.gov/literature/gene/HPGD	3248	ENSG00000164120	5154	https://pubmed.ncbi.nlm.nih.gov/?term=HPGD	None	None	156
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	183
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	327
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	None
HRAS	HRas proto-oncogene, GTPase	Thyroid cancer, nonmedullary, 2?0005206;Differentiated thyroid carcinoma?0012027;Woolly hair nevus?0013025;Costello syndrome?0001550;Linear nevus sebaceus syndrome?0010291;Phakomatosis pigmentokeratotica?0004311	https://raresource.nih.gov/literature/gene/HRAS	3265	ENSG00000174775	5173	https://pubmed.ncbi.nlm.nih.gov/?term=HRAS	None	None	124
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	298
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	120
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	259
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	191
HSD17B4	hydroxysteroid 17-beta dehydrogenase 4	Bifunctional enzyme deficiency?0004539;Perrault syndrome?0002542	https://raresource.nih.gov/literature/gene/HSD17B4	3295	ENSG00000133835	5213	https://pubmed.ncbi.nlm.nih.gov/?term=HSD17B4	None	None	437
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	224
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	258
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	314
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	786
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	440
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	197
HSPG2	heparan sulfate proteoglycan 2	Schwartz-Jampel syndrome?0000250;1p36 deletion syndrome?0006082;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	3132
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	349
HTT	huntingtin	Huntington disease?0006677;Juvenile Huntington disease?0010510	https://raresource.nih.gov/literature/gene/HTT	3064	ENSG00000197386	4851	https://pubmed.ncbi.nlm.nih.gov/?term=HTT	None	None	1700
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	970
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	3132
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	159
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
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	77
IDH1	isocitrate dehydrogenase (NADP(+)) 1	Gliosarcoma?0005653;Ollier disease?0007251;Maffucci syndrome?0006958	https://raresource.nih.gov/literature/gene/IDH1	3417	ENSG00000138413	5382	https://pubmed.ncbi.nlm.nih.gov/?term=IDH1	None	None	481
IDH2	isocitrate dehydrogenase (NADP(+)) 2	Oligoastrocytoma?0009769;D-2-hydroxyglutaric aciduria?0005661;Ollier disease?0007251;Anaplastic astrocytoma?0005860;Oligodendroglioma?0009953;Anaplastic oligoastrocytoma?0010637;Maffucci syndrome?0006958;Anaplastic oligodendroglioma?0009472	https://raresource.nih.gov/literature/gene/IDH2	3418	ENSG00000182054	5383	https://pubmed.ncbi.nlm.nih.gov/?term=IDH2	None	None	281
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	342
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	207
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	560
IFIH1	interferon induced with helicase C domain 1	Aicardi-Goutières syndrome?0000575;Singleton-Merten dysplasia?0000122	https://raresource.nih.gov/literature/gene/IFIH1	64135	ENSG00000115267	18873	https://pubmed.ncbi.nlm.nih.gov/?term=IFIH1	None	None	627
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	145
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	60
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	258
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	392
IFT122	intraflagellar transport 122	Short rib-polydactyly syndrome, Beemer-Langer type?0004832;Cranioectodermal dysplasia?0000359	https://raresource.nih.gov/literature/gene/IFT122	55764	ENSG00000163913	13556	https://pubmed.ncbi.nlm.nih.gov/?term=IFT122	None	None	745
IFT140	intraflagellar transport 140	Jeune syndrome?0003049;Leber congenital amaurosis?0000634;Autosomal dominant polycystic kidney disease?0010413;Retinitis pigmentosa?0005694;Saldino-Mainzer syndrome?0008600	https://raresource.nih.gov/literature/gene/IFT140	9742	ENSG00000187535	29077	https://pubmed.ncbi.nlm.nih.gov/?term=IFT140	None	None	1133
IFT172	intraflagellar transport 172	Retinitis pigmentosa?0005694;Jeune syndrome?0003049;Saldino-Mainzer syndrome?0008600;Bardet-Biedl syndrome?0006866	https://raresource.nih.gov/literature/gene/IFT172	26160	ENSG00000138002	30391	https://pubmed.ncbi.nlm.nih.gov/?term=IFT172	None	None	936
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	104
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	205
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	230
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	None
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	336
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	934
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	111
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	85
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	732
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	127
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	186
IGH	immunoglobulin heavy locus	Mantle cell lymphoma?0006969;Follicular lymphoma?0002356;MALT lymphoma?0006485	https://raresource.nih.gov/literature/gene/IGH	3492		5477	https://pubmed.ncbi.nlm.nih.gov/?term=IGH	None	None