TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0078923
Disease: Albinism, Yellow-Mutant
Albinism, Yellow-Mutant
0.300 Biomarker phenotype CTD_human Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). 9158138 1997
CUI: C0078923
Disease: Albinism, Yellow-Mutant
Albinism, Yellow-Mutant
0.300 Biomarker phenotype CTD_human Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. 2511845 1989