TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Abnormality of the eye ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation phenotype CLINVAR Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1). 16098056 2005