rs74315402, PRNP

N. diseases: 7
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
0.780 GeneticVariation BEFREE Here we have performed systematic studies of purified resPrP<sup>D</sup> species extracted from GSS cases with the A117V (GSS<sup>A117V</sup>) and F198S (GSS<sup>F198S</sup>) PrP gene mutations. 31142381 2019
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
0.780 GeneticVariation BEFREE A 16 kDa thermolysin-resistant signature was also found in GSS patients with P102L, A117V, H187R and F198S alleles and has coordinates similar to GSS stop codon mutations. 29338055 2018
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
0.780 GeneticVariation BEFREE We conclude that GSS A117V is indeed a prion disease although the relative contributions of (Ctm)PrP and prion propagation in neurodegeneration and their pathogenetic interaction remains to be established. 24086135 2013
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
0.780 GeneticVariation BEFREE Overall, Tg(A116V) mice recapitulate many clinicopathologic features of G</span>SS(A117V) that are distinct from CJD, supporting PrP(A116V) to carry specific phenotypic information. 19675240 2009
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
0.780 GeneticVariation BEFREE The aim of this study was to characterize PrP in brain extracts, microsomal preparations, and purified fractions from A117V patients and to determine the N terminus of PrP(sc) species in both GSS A117V and F198S. 11395398 2001
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
0.780 GeneticVariation BEFREE A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivity, is the major amyloid protein in Gerstmann-Sträussler-Scheinker disease A117V. 11087738 2001
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
0.780 GeneticVariation BEFREE Gerstmann-Sträussler-Scheinker disease with A117V mutation in a second French-Alsatian family. 9707339 1998
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
0.780 GeneticVariation BEFREE Neurofibrillary tangles in Gerstmann-Sträussler-Scheinker syndrome with the A117V prion gene mutation. 9285466 1997
Gerstmann-Straussler-Scheinker Disease
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
0.780 CausalMutation CLINVAR
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.750 GeneticVariation BEFREE Familial forms of human prion disease include those associated with the mutations G114V and A117V, which lie in the hydrophobic domain of PrP. 24352465 2014
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.750 GeneticVariation BEFREE We conclude that GSS A117V is indeed a pr</span>ion disease although the relative contributions of (Ctm)PrP and prion propagation in neurodegeneration and their pathogenetic interaction remains to be established. 24086135 2013
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.750 GeneticVariation BEFREE Molecular dynamics calculations demonstrated the conformational change in the prion protein due to Ala(117)-->Val mutation, which is related to Gerstmann-Sträussler-Sheinker disease, one of the familial prion diseases. 11964260 2002
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.750 GeneticVariation BEFREE Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family. 11385020 2001
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.750 GeneticVariation BEFREE Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene. 10506086 1999
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.750 CausalMutation CLINVAR
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Genetic PrP Prion Diseases. 28778873 2018
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Prion diseases. 28987186 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Genetics of prion diseases. 23518043 2013
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene. 21911696 2011
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR The genetics of prion diseases. 20216075 2010
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu). 16769939 2006
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Childhood onset in familial prion disease with a novel mutation in the PRNP gene. 16831973 2006
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Prion disease genetics. 16391566 2006
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia. 15824374 2005
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR High incidence of genetic human transmissible spongiform encephalopathies in Italy. 15883322 2005