Gene: PRNP ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1178466848
rs1178466848
PRNP
0.010 GeneticVariation BEFREE So, the histopathological and biochemical profile associated with the V189I mutation was indistinguishable from the MM1/MV1 subtype of sporadic CJD.Our findings support a pathogenic role for the V189I PRNP variant, confirm the heterogeneity of the clinical phenotypes associated to PRNP mutations and highlight the importance of PrP<sup>Sc</sup> detection assays as diagnostic tools to unveil prion diseases presenting with atypical phenotypes. 30606247

2019
dbSNP: rs1292160648
rs1292160648
PRNP
0.010 GeneticVariation BEFREE Amino acids that differentiate ovine and deer normal host prion protein (PrP<sup>C</sup>) and associated with structural rigidity of the loop β2-α2 (S173N, N177T) appear to confer resistance to some prion diseases. 30592012

2019
dbSNP: rs775144659
rs775144659
PRNP
0.010 GeneticVariation BEFREE Amino acids that differentiate ovine and deer normal host prion protein (PrP<sup>C</sup>) and associated with structural rigidity of the loop β2-α2 (S173N, N177T) appear to confer resistance to some prion diseases. 30592012

2019
dbSNP: rs398122414
rs398122414
PRNP
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
dbSNP: rs74315410
rs74315410
PRNP
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
dbSNP: rs768562045
rs768562045
PRNP
0.010 GeneticVariation BEFREE Thus, we illustrate the utility of harnessing multiple lines of prion disease-specific evidence in the evaluation of the T201S variant, which may be similarly applied to assess other novel variants in PRNP. 29861043

2018
dbSNP: rs747500244
rs747500244
PRNP
0.010 GeneticVariation BEFREE Binding of bovine T194A PrP(C) by PrP(Sc)-specific antibodies: potential implications for immunotherapy of familial prion diseases. 23787697

2014
dbSNP: rs751882709
rs751882709
PRNP
0.010 GeneticVariation BEFREE Since prion diseases present metal dyshomeostasis and increased oxidative stress, we described the copper-binding site located in the human C-terminal domain of PrP-HuPrP(90-231), both in the wild-type protein and in the protein carrying the pathological mutation Q212P. 22788868

2012
dbSNP: rs16990018
rs16990018
PRNP
0.010 GeneticVariation BEFREE The N171S PrP polymorphism is found mainly in humans of African descent, but its low incidence has precluded study of its possible influence on prion disease. 21980292

2011
dbSNP: rs398122370
rs398122370
PRNP
0.010 GeneticVariation BEFREE Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. 10790216

2000
dbSNP: rs776593792
rs776593792
PRNP
0.010 GeneticVariation BEFREE Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. 10790216

2000
dbSNP: rs761807915
rs761807915
PRNP
0.020 GeneticVariation BEFREE In this study we generated prion protein fragment 90-231 bearing mutations identified in familial prion diseases (D202N and E200K), to analyze their role in the induction of a neurotoxic conformation. 21094273

2011
dbSNP: rs372878791
rs372878791
PRNP
0.020 GeneticVariation BEFREE Pathologic evidence that the T188R mutation in PRNP is associated with prion disease. 21107135

2010
dbSNP: rs761807915
rs761807915
PRNP
0.020 GeneticVariation BEFREE Mutant prion protein D202N associated with familial prion disease is retained in the endoplasmic reticulum and forms 'curly' intracellular aggregates. 17873292

2007
dbSNP: rs372878791
rs372878791
PRNP
0.020 GeneticVariation BEFREE Two Creutzfeldt-Jakob disease-associated PrP mutants, PrP T188K and PrP T188R, revealed a secretory pathway to the cell membrane and PrP(Sc)-like properties, i.e. enhanced proteinase K resistance and detergent insolubility similar to other mutant PrPs associated with familial prion diseases. 11756421

2002
dbSNP: rs267606980
rs267606980
PRNP
0.030 GeneticVariation BEFREE A naturally occurring protective polymorphism G127V in human PrP has recently been found to greatly attenuate prion diseases, but the mechanism has remained elusive. 31821812

2020
dbSNP: rs267606980
rs267606980
PRNP
0.030 GeneticVariation BEFREE This work is beneficial for understanding the molecular mechanisms underlying the complete resistance of the G127V mutant to prion disease and for developing new therapeutics for prion disease. 30181558

2018
dbSNP: rs267606980
rs267606980
PRNP
0.030 GeneticVariation BEFREE In particular, it has been shown that the G127V mutation in this region of the human prion protein (huPrP) is protective against the spread of prion disease, but the mechanism of protection remains unknown. 29045139

2017
dbSNP: rs1800014
rs1800014
PRNP
0.030 GeneticVariation BEFREE For example, although 219E/K heterozygosity confers resistance against the development of sporadic CJD, this genotype is not entirely protective against acquired forms (iatrogenic CJD and variant CJD) or genetic forms (genetic CJD and Gerstmann-Sträussler-Scheinker syndrome) of prion diseases. 26022925

2015
dbSNP: rs1800014
rs1800014
PRNP
0.030 GeneticVariation BEFREE Our data indicate that (i) the E196K mutation is causally linked to human prion disease, (ii) there is a complex phenotypic spectrum of this mutation that includes nonspecific symptoms at onset and features typical of sCJD during disease progression, and (iii) the corresponding histologic picture comprises both cases with atypical neuropathology and cases that closely resemble subtypes of sCJD corresponding to the classification of Parchi et al, with subtle modifications in hippocampal regions CA1-4. 21293298

2011
dbSNP: rs1800014
rs1800014
PRNP
0.030 GeneticVariation BEFREE The antibodies may help to explore the relationship of 219Glu/Lys polymorphism to the pathogenesis of human prion diseases. 10889337

2000
dbSNP: rs2756271
rs2756271
PRNP ; RPS4XP2
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012
dbSNP: rs6107516
rs6107516
PRNP
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012
dbSNP: rs193922906
rs193922906
PRNP
CGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT 0.700 CausalMutation CLINVAR

dbSNP: rs74315406
rs74315406
PRNP
G 0.700 CausalMutation CLINVAR