PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Gerstmann-Straussler-Scheinker Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315408
rs74315408
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.010 GeneticVariation BEFREE Three clinical phenotypes were seen: rapidly progressive Creutzfeldt-Jakob disease (CJD), which included 100% of E200K cases, 70% of M232R, and 21% of P102L; slowly progressive CJD, which included 100% of V180I and 30% of M232R; and Gerstmann-Sträussler-Scheinker disease, which included 100% of P105L and 79% of P102L. 23555862 2013