Oculocutaneous albinism

Disease Term Disease ID Gene Symbol Classification References Source
ALBINISM, OCULOCUTANEOUS, TYPE VII C3808786 LRMDA Causal Pathogenic evidence from ClinVar 23395477, 26818737 ClinVar
Oculocutaneous albinism type 7 352745 LRMDA Causal Pathogenic evidence from ClinVar - ClinVar
Albinism, Oculocutaneous C0078918 OCA2 Causal Pathogenic evidence from ClinVar 8302318 ClinVar
SLC24A5 Causal Pathogenic evidence from ClinVar 23364476 ClinVar
SLC45A2 Causal Pathogenic evidence from ClinVar 14722913 ClinVar
TYR Causal Pathogenic evidence from ClinVar 1429711, 1642278, 1903591, 1905879, 1970634, 2342539, 2511845, 7704033, 7902671, 8128955, 8430701, 8434585, 9158138, 9163730, 9242509, 11284711, 13680365, 15146472, 15381243, 15635296, 16056219, 16170149, 18326704, 18463683, 18821858, 19060277, 19320745, 19865097, 20806075, 20861488, 21906913, 22042571, 22294196, 22734612, 23324268, 24123366, 24721949, 25216246, 25919014, 26167114, 26818737, 27775880, 28266639, 28451379, 28629449 ClinVar
TYRP1 Causal Pathogenic evidence from ClinVar 9345097 ClinVar
HPS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9562579 -
MITF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9158138 -
Oculocutaneous albinism type 2 79432, C0268495 OCA2 Causal Pathogenic evidence from ClinVar 7762554, 7874125, 8302318, 8980282, 9259203, 10649493, 10671067, 10905897, 10987646, 12713581, 12727022, 12876664, 15712365, 17385796, 17960121, 18326704, 18463683, 18821858, 19060277, 19865097, 20426782, 20861488, 22734612, 23504663, 23744323, 24118800, 24361966, 24845642, 25513726, 25919014, 26165494, 26474496, 26818737, 27231233, 27468418, 28266639, 28451379 ClinVar
MC1R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12876664, 26197705 -
ALBINISM, OCULOCUTANEOUS, TYPE VI C3805375 SLC24A5 Causal Pathogenic evidence from ClinVar 23364476, 23985994, 26686029 ClinVar
MYEF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Oculocutaneous albinism type 6 370097, C3695272 SLC24A5 Causal Pathogenic evidence from ClinVar 23364476 ClinVar
MYEF2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Oculocutaneous albinism type 4 79435 SLC45A2 Causal Pathogenic evidence from ClinVar - ClinVar
Oculocutaneous Albinism, Type IV C1847836 SLC45A2 Causal Pathogenic evidence from ClinVar 11574907, 14722913, 14961451, 15565285, 15656822, 17768386, 19865097, 23504663, 24845642, 26818737 ClinVar
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE C1847132 TYR Causal Pathogenic evidence from ClinVar - ClinVar
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) C1847024 TYR Causal Pathogenic evidence from ClinVar 1429711, 1900309, 1903591, 2342539, 8128955, 10987646, 18326704, 21985232, 28778995 ClinVar
Oculocutaneous albinism type 1 C0268494 TYR Causal Pathogenic evidence from ClinVar 11781109, 26167114 ClinVar
Oculocutaneous albinism type 1A 79431, C4551504 TYR Causal Pathogenic evidence from ClinVar 1429711, 1487241, 1642278, 1899321, 1943686, 1970634, 2113511, 2342539, 7902671, 7955413, 8128955, 8644824, 9259202, 10571953, 10671066, 10987646, 11295837, 11781109, 11858948, 13680365, 15146472, 16570240, 18326704, 18463683, 20861488, 21458243, 21985232, 22042571, 22294196, 22981120, 23504663, 24934919, 25703744, 28778995 ClinVar
Oculocutaneous albinism type 1B 79434 TYR Causal Pathogenic evidence from ClinVar - ClinVar
ALBINISM, OCULOCUTANEOUS, TYPE III C0342683 TYRP1 Causal Pathogenic evidence from ClinVar 9345097, 10644000, 16704458, 18821858, 23504663 ClinVar
Oculocutaneous albinism type 3 79433, C2931599 TYRP1 Causal Pathogenic evidence from ClinVar - ClinVar
ALBINISM, OCULOCUTANEOUS, TYPE V C3888401 OCA5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28507374 -