PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Prion Diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs372878791
rs372878791
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0162534
Disease:
Prion Diseases 		0.020 GeneticVariation BEFREE Pathologic evidence that the T188R mutation in PRNP is associated with prion disease. 21107135 2010
dbSNP: rs372878791
rs372878791
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0162534
Disease:
Prion Diseases 		0.020 GeneticVariation BEFREE Two Creutzfeldt-Jakob disease-associated PrP mutants, PrP T188K and PrP T188R, revealed a secretory pathway to the cell membrane and PrP(Sc)-like properties, i.e. enhanced proteinase K resistance and detergent insolubility similar to other mutant PrPs associated with familial prion diseases. 11756421 2002