rs398122414, PRNP

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
0.010 GeneticVariation BEFREE The patient with the shortest disease duration (27 months) carried a Y226X mutation and showed PrP-CAA without any neurofibrillary lesions, whereas the patient with the longest disease duration (72 months) had a Q227X mutation and showed an unusual Gerstmann-Sträussler-Scheinker disease phenotype with numerous cerebral multicentric amyloid plaques and severe neurofibrillary lesions without PrP-CAA. 19911184 2010
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.010 GeneticVariation BEFREE Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein. 29458424 2018
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
CUI: C3805618
Disease: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
0.700 CausalMutation CLINVAR