Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 CausalMutation CLINVAR Molecular and clinical characterization of albinism in a large cohort of Italian patients. 20861488 2011
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. 15381243 2004
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. 9163730 1997