Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Childhood Craniopharyngioma
CUI: C0278652
Disease: Childhood Craniopharyngioma
0.010 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065 2009