TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Ocular albinism, type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		0.030 Biomarker disease BEFREE Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1. 27720922 2017
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		0.030 Biomarker disease BEFREE In this study we recruited 321 albino patients and screened them for the genes known to cause oculocutaneous albinism (OCA1-4 and OCA6) and ocular albinism (OA1). 27734839 2017
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		0.030 GeneticVariation disease BEFREE We screened 172 index patients with a clinical diagnosis of OA or OCA based on the classical findings, to evaluate the frequency of sequence variants in tyrosinase (TYR), P-gene, P-protein (OCA2), and the G-protein-coupled receptor 143 gene, OA1 (GPR143). 21541274 2011