PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Creutzfeldt-Jakob disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748929962
rs748929962
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.010 GeneticVariation BEFREE Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease. 31447551 2019