TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Yellow mutant oculocutaneous albinism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268500
Disease: Yellow mutant oculocutaneous albinism
Yellow mutant oculocutaneous albinism 		0.020 GeneticVariation disease BEFREE A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype. 10559577 1999
CUI: C0268500
Disease: Yellow mutant oculocutaneous albinism
Yellow mutant oculocutaneous albinism 		0.020 GeneticVariation disease BEFREE Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. 1903591 1991