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: rs1800014
rs1800014
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.020 GeneticVariation BEFREE For example, although 219E/K heterozygosity confers resistance against the development of sporadic CJD, this genotype is not entirely protective against acquired forms (iatrogenic CJD and variant CJD) or genetic forms (genetic CJD and Gerstmann-Sträussler-Scheinker syndrome) of prion diseases. 26022925 2015
dbSNP: rs1800014
rs1800014
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.020 GeneticVariation BEFREE A new variant of Gerstmann-Sträussler-Scheinker disease (GSS) was reported, which had a substitution of glutamate to lysine at codon 219 (E219K) in addition to a P102L mutation on the same allele of the PrP gene. 9153600 1997