Gene: PRNP ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE The purpose of this study was (1) to detect asymptomatic carriers of the prion protein gene mutation E200K, which is associated with Creutzfeldt-Jakob disease (CJD), in corneal donors and in the general population of Slovakia and (2) to assess the genetic testing of corneal donors as an effective preventive measure against iatrogenic infection in a country with an unusually high incidence of genetic CJD. 21508834

2011
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy. 20593190

2011
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE Pruritus is relatively common in patients with familial CJD carrying the E200K mutation. 20725737

2011
dbSNP: rs74315408
rs74315408
PRNP
0.900 GeneticVariation BEFREE Serial diffusion-weighted MRI and SPECT findings in a Creutzfeldt-Jakob disease patient with V180I mutation. 21094959

2011
dbSNP: rs74315408
rs74315408
PRNP
0.900 GeneticVariation BEFREE V180I CJD is an interesting form of genetic CJD with regards to the clinicopathologic, molecular and genetic findings. 21269331

2011
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE The CJD patient who was first reported in China has a missense mutation in codon 200 (E200K) of the PRNP, and the codon 129 is a methionine homozygous genotype. 20514992

2010
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE Animals injected with iatrogenic Creutzfeldt-Jakob disease MM1 and genetic Creutzfeldt-Jakob disease MM1 linked to the E200K mutation showed the same phenotypic features as those infected with sporadic Creutzfeldt-Jakob disease MM1 prions, whereas kuru most closely resembled the sporadic Creutzfeldt-Jakob disease VV2 or MV2 prion signature and neuropathology. 20823086

2010
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation UNIPROT Conformational diversity in prion protein variants influences intermolecular beta-sheet formation. 19927125

2010
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE Codon 129 polymorphism and the E200K mutation do not affect the cellular prion protein isoform composition in the cerebrospinal fluid from patients with Creutzfeldt-Jakob disease. 20529115

2010
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE The clinical diagnosis of possible genetic Creutzfeldt-Jakob disease (CJD) has been confirmed by PRNP gene analysis which revealed the presence of a E200K mutation. 20730466

2010
dbSNP: rs74315408
rs74315408
PRNP
0.900 GeneticVariation BEFREE We report a 75-yr-old woman with familial CJD carrying a V180I mutation which features late onset, slow progression, no periodic sharp wave complexes on electroencephalography, and extensive cortical ribboning with spared the cerebellum and the medial occipital lobes posterior to the parieto-occipital sulcus on MRI. 20592908

2010
dbSNP: rs74315408
rs74315408
PRNP
0.900 GeneticVariation BEFREE An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology. 19703264

2010
dbSNP: rs74315408
rs74315408
PRNP
0.900 GeneticVariation UNIPROT Conformational diversity in prion protein variants influences intermolecular beta-sheet formation. 19927125

2010
dbSNP: rs1799990
rs1799990
PRNP
A 0.900 GeneticVariation GWASCAT Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. 19081515

2009
dbSNP: rs1799990
rs1799990
PRNP
A 0.900 GeneticVariation GWASDB Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. 19081515

2009
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE As part of a large prospective study, we analysed early diffusion MRI scans of 14 patients with the E200K genetic form of Creutzfeldt-Jakob Disease, 20 healthy carriers of this mutation that causes the disease and 20 controls without the mutation from the same families. 19321460

2009
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE Our report supports the variability of the clinical expression of the E200K genetic CJD. 19597763

2009
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE Prions from E200K and classical CJD M129 homozygous patients, transmitted disease with equivalent efficiencies and short incubation periods in human PrP 200K, 129M transgenic mice. 19218199

2009
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE To our knowledge, this is the first description of Abeta plaques in familial CJD with the E200K mutation. 19822779

2009
dbSNP: rs74315408
rs74315408
PRNP
0.900 GeneticVariation BEFREE The present study reported DWI results in cases of familial CJD with a V180I mutation (CJD180) in the prion protein gene as well as neurological findings. 20051687

2009
dbSNP: rs1799990
rs1799990
PRNP
0.900 GeneticVariation BEFREE Our proband was MM homozygous for the M129V polymorphism within the prion protein gene (PRNP), a known risk factor for CJD. 18236005

2008
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE An identical pathogenic mutation at the homologous codon position (E200K) in the human Prnp has been described as the most common cause of genetic CJD. 18787697

2008
dbSNP: rs1799990
rs1799990
PRNP
0.900 GeneticVariation BEFREE In our study -101G polymorphism is over-represented among sCJD PRNP codon 129M/V cases compared with the control group. 17134829

2007
dbSNP: rs1799990
rs1799990
PRNP
0.900 GeneticVariation BEFREE The methionine/valine polymorphism at position 129 in the prion protein gene, PRNP M129V, is a known risk factor for Creutzfeldt-Jakob disease (CJD). 16949098

2007