rs28933385, PRNP

N. diseases: 25
Disease: Familial Creutzfeldt-Jakob ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial Creutzfeldt-Jakob
CUI: C4275003
Disease: Familial Creutzfeldt-Jakob
0.020 GeneticVariation BEFREE Examination of the mutation E199K in mouse PrP<sup>C</sup> (E200K in humans), responsible for inherited Creutzfeldt-Jakob disease, finds that the mutation lowers metal ion affinity and weakens the cis interaction. 30678993 2019
Familial Creutzfeldt-Jakob
CUI: C4275003
Disease: Familial Creutzfeldt-Jakob
0.020 GeneticVariation BEFREE The EEG of our E200K fCJD patients appears similar to that of the largest prion disease patient group, sporadic CJD (sCJD). 21833705 2012