rs74315414, PRNP

N. diseases: 5
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 Atypical prion protein conformation in familial prion disease with PRNP P105T mutation. 20875062 2011
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.720 GeneticVariation BEFREE A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation. 18955686 2008
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.720 CausalMutation CLINVAR
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.720 CausalMutation CLINVAR
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
CUI: C1847650
Disease: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
0.700 CausalMutation CLINVAR
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
0.700 CausalMutation CLINVAR
Aphasia, Progressive
CUI: C0338457
Disease: Aphasia, Progressive
0.010 GeneticVariation BEFREE We detected a novel mutation at codon 105 of PRNP that results in a serine (S) substitution of proline (P) (P105S), in a young woman who developed progressive aphasia, behavioral changes, dementia, and parkinsonism, lasting 10 years to her death. 18955686 2008
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.010 GeneticVariation BEFREE We detected a novel mutation at codon 105 of PRNP that results in a serine (S) substitution of proline (P) (P105S), in a young woman who developed progressive aphasia, behavioral changes, dementia, and parkinsonism, lasting 10 years to her death. 18955686 2008