|
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 |