Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.900 GeneticVariation BEFREE FFI, T188K gCJD and E200K were the three most common subtypes. 26488179

2015

dbSNP: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.900 GeneticVariation BEFREE Molecular analysis confirmed genetic CJD (PRNP E200K mutation).One month later, she became comatose. 23296137

2013

dbSNP: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.900 GeneticVariation BEFREE Fatal prion disease in a mouse model of genetic E200K Creutzfeldt-Jakob disease. 22072968

2011

dbSNP: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.900 GeneticVariation BEFREE Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy. 20593190

2011

dbSNP: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.900 GeneticVariation BEFREE Pruritus is relatively common in patients with familial CJD carrying the E200K mutation. 20725737

2011

dbSNP: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.900 GeneticVariation UNIPROT Conformational diversity in prion protein variants influences intermolecular beta-sheet formation. 19927125

2010

dbSNP: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.900 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010

dbSNP: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
0.900 GeneticVariation BEFREE Our report supports the variability of the clinical expression of the E200K genetic CJD. 19597763

2009

dbSNP: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
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