rs28933385, PRNP

N. diseases: 25
Disease: Familial (FPAH) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.020 GeneticVariation BEFREE Previous studies reported conflicting results regarding possible anticipation in familial E200K Creutzfeldt-Jakob disease (fCJD). 31814268 2020
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.020 GeneticVariation BEFREE To our knowledge, this is the first description of Abeta plaques in familial CJD with the E200K mutation. 19822779 2009