Preferred Label : Skin/hair/eye pigmentation, variation in, 3;
Symbol : SHEP3;
CISMeF acronym : EYCL1; GEY; SHEP3;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Skin/hair/eye pigmentation 3, light/dark skin; Skin/hair/eye pigmentation 3, freckling; Skin/hair/eye pigmentation 3, blue/green eye color; Eye color 1; Eye color, green/blue; EYCL1; GEY;
Included titles and symbols : Melanoma, cutaneous malignant, susceptibility to, 8;
Inheritance : Autosomal dominant;
Molecular basis : Susceptibility conferred by mutation in the tyrosinase gene (606933.0008);
Neoplasia : Melanoma susceptibility;
Prefixed ID : #601800;
Origin ID : 601800;
UMLS CUI : C2677190;
Automatic exact mappings (from CISMeF team)
- Genes related to phenotype
- Semantic type(s)
