TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Oculocutaneous albinism type 1 ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0268494
Disease: Oculocutaneous albinism type 1
Oculocutaneous albinism type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 2 0.700 limited 1.000 34 2 1991 2018