rs398122414, PRNP

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
CUI: C3805618
Disease: CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
0.700 CausalMutation CLINVAR
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
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