TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Congenital hypopigmentation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0333008
Disease: Congenital hypopigmentation
Congenital hypopigmentation 		0.010 Biomarker disease BEFREE Oculo-cutaneous albinism type 1 (OCA1) is characterized by congenital hypopigmentation and is due to mutations in the TYROSINASE gene (TYR). 19436266 2009