Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933385
rs28933385
0.900 GeneticVariation BEFREE This is the largest study on E200K gCJD patients in China, which would benefit to the knowledge of E200K gCJD. 30755683

2019

dbSNP: rs74315408
rs74315408
0.900 GeneticVariation BEFREE On the basis of the magnetic resonance imaging findings and the findings of previous case reports of V180I gCJD, we speculate that the characteristic extensive cerebrocortical involvement observed in V180I gCJD was implicated in the pathogenesis of the facial mimicry observed in this case. 31387445

2019

dbSNP: rs28933385
rs28933385
0.900 GeneticVariation BEFREE The most common hereditary prion disease is a genetic form of Creutzfeldt-Jakob disease in humans, in which a mutation in the prion gene results in a glutamic acid to lysine substitution at position 200 (E200K) in PrP. 30354921

2018

dbSNP: rs74315408
rs74315408
0.900 GeneticVariation BEFREE Pathological progression of genetic Creutzfeldt-Jakob disease with a PrP V180I mutation. 29264994

2018

dbSNP: rs74315408
rs74315408
0.900 GeneticVariation BEFREE Biochemical features of genetic Creutzfeldt-Jakob disease with valine-to-isoleucine substitution at codon 180 on the prion protein gene. 29382530

2018

dbSNP: rs74315408
rs74315408
0.900 GeneticVariation BEFREE These clinicopathological findings led us to several conclusions relative to the early disease pathology of V180I genetic Creutzfeldt-Jakob disease: (i) spongiform change was not found in the medial occipital cortex, which corresponds to the results of DWI; (ii) VaSNoC-type spongiform changes, extensively recognized in the cerebral cortex, corresponded to the DWI findings showing continued hyperintensity with higher brightness, and T2-weighted and FLAIR images findings showing a swelling; and (iii) spongiform changes first appear in the deeper layer and subsequently in the superficial layer in the cerebral cortex. 30216556

2018

dbSNP: rs74315408
rs74315408
0.900 GeneticVariation BEFREE First case of V180I rare mutation in a Brazilian patient with Creutzfeldt-Jakob disease. 29095671

2017

dbSNP: rs74315408
rs74315408
0.900 GeneticVariation BEFREE We believe that pathological laughing and an exaggerated startle reaction are possible pathognomonic findings of V180I genetic Creutzfeldt-Jakob disease. 28703419

2017

dbSNP: rs1799990
rs1799990
0.900 GeneticVariation BEFREE Notably, mice expressing only PrP V127 were completely resistant to all prion strains, demonstrating a different molecular mechanism to M129V, which provides its relative protection against classical CJD and kuru in the heterozygous state. 26061765

2015

dbSNP: rs1799990
rs1799990
0.900 GeneticVariation BEFREE In addition, 129M/V heterozygotes predispose to genetic CJD caused by a pathogenic PRNP mutation at codon 180. 26022925

2015

dbSNP: rs28933385
rs28933385
0.900 GeneticVariation BEFREE FFI, T188K gCJD and E200K were the three most common subtypes. 26488179

2015

dbSNP: rs28933385
rs28933385
0.900 GeneticVariation BEFREE Exome sequencing of the three CJD patients with E200K and 11 of the family of one patient (case1) were performed using the Illumina HiSeq 2000. 25149502

2014

dbSNP: rs28933385
rs28933385
0.900 GeneticVariation BEFREE Three independent reports have claimed anticipation in Creutzfeldt-Jakob disease (CJD) caused by the c.598G > A mutation in PRNP encoding a p.Glu200Lys (E200K) substitution in the prion protein. 25279981

2014

dbSNP: rs74315408
rs74315408
0.900 GeneticVariation BEFREE We conclude that the V180I mutation in PRNP produces a late-developing and slow-developing, less severe form of CJD, whose lesions are uniquely distributed compared with sporadic and other genetic forms of CJD. 24838726

2014

dbSNP: rs74315408
rs74315408
0.900 GeneticVariation BEFREE Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease. 25482600

2014

dbSNP: rs28933385
rs28933385
0.900 GeneticVariation BEFREE Molecular analysis confirmed genetic CJD (PRNP E200K mutation).One month later, she became comatose. 23296137

2013

dbSNP: rs28933385
rs28933385
0.900 GeneticVariation BEFREE To this effect, we subjected blood mRNA from E200K PrP CJD patients and corresponding family members to global arrays and found that the expression of Snord3A, a non-coding RNA transcript, was elevated several times in CJD patients as compared to controls, while asymptomatic carriers presented intermediate Snord3A levels. 23349890

2013

dbSNP: rs28933385
rs28933385
0.900 GeneticVariation BEFREE Age at Death of Creutzfeldt-Jakob disease in subsequent family generation carrying the E200K mutation of the prion protein gene. 23565236

2013

dbSNP: rs28933385
rs28933385
0.900 GeneticVariation BEFREE Three clinical phenotypes were seen: rapidly progressive Creutzfeldt-Jakob disease (CJD), which included 100% of E200K cases, 70% of M232R, and 21% of P102L; slowly progressive CJD, which included 100% of V180I and 30% of M232R; and Gerstmann-Sträussler-Scheinker disease, which included 100% of P105L and 79% of P102L. 23555862

2013

dbSNP: rs74315408
rs74315408
0.900 GeneticVariation BEFREE Three clinical phenotypes were seen: rapidly progressive Creutzfeldt-Jakob disease (CJD), which included 100% of E200K cases, 70% of M232R, and 21% of P102L; slowly progressive CJD, which included 100% of V180I and 30% of M232R; and Gerstmann-Sträussler-Scheinker disease, which included 100% of P105L and 79% of P102L. 23555862

2013

dbSNP: rs28933385
rs28933385
0.900 GeneticVariation BEFREE Recently, we reported widespread intraneuronal prion protein (PrP) immunoreactivity in genetic Creutzfeldt-Jakob disease (CJD) associated with the E200K mutation. 22318125

2012

dbSNP: rs74315408
rs74315408
0.900 GeneticVariation BEFREE From the present observations, the author speculated that pathological laughing and crying may be a comparatively frequent observation in V180I CJD patients. 22658899

2012

dbSNP: rs1799990
rs1799990
0.900 GeneticVariation BEFREE An important determinant for CJD risk and phenotype is the M129V polymorphism of the human prion protein gene (PRNP), but there are also other coding and non-coding polymorphisms inside this gene. 21600043

2011

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

2011

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

2011