rs74315408, PRNP

N. diseases: 16
Disease: Creutzfeldt-Jakob Disease, Familial ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Creutzfeldt-Jakob Disease, Familial
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
Creutzfeldt-Jakob Disease, Familial
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
0.030 GeneticVariation BEFREE Familial Creutzfeldt-Jakob disease with V180I mutation. 20592908 2010
Creutzfeldt-Jakob Disease, Familial
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