PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Creutzfeldt-Jakob Disease, Familial ×
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: C0751254
Disease:
Creutzfeldt-Jakob Disease, Familial 		0.030 GeneticVariation BEFREE The clinical features of familial Creutzfeldt-Jakob disease (fCJD) with a mutation at codon 180 (V180I) are less typical than those of patients with sporadic CJD. 22999564 2013
dbSNP: rs74315408
rs74315408
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0751254
Disease:
Creutzfeldt-Jakob Disease, Familial 		0.030 GeneticVariation BEFREE Familial Creutzfeldt-Jakob disease with V180I mutation. 20592908 2010
dbSNP: rs74315408
rs74315408
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0751254
Disease:
Creutzfeldt-Jakob Disease, Familial 		0.030 GeneticVariation BEFREE Familial Creutzfeldt-Jakob disease with a V180I mutation: comparative analysis with pathological findings and diffusion-weighted images. 20051687 2009