rs74315413, PRNP

N. diseases: 8
Disease: Prion Diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.720 GeneticVariation BEFREE These results are relevant to the pathogenic H187R mutation found in humans, which is associated with an inherited prion disease [also termed Gerstmann-Sträussler-Scheinker (GSS) syndrome] with unusual features such as childhood neuropsychiatric illness. 20718410 2010
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.720 GeneticVariation BEFREE A variant of prion encephalopathy associated with the novel H187R mutation in the PRNP gene displays distinctive clinical and immunostaining characteristics that further expand the boundaries of human prion disease. 10953183 2000
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.720 CausalMutation CLINVAR