| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Other Creutzfeldt-Jakob disease
|
0.100 | 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 | |||||
Other Creutzfeldt-Jakob disease
|
0.100 | GeneticVariation | BEFREE | The aim of the present study was to investigate possible selection biases or confounding factors related to anticipation in E200K CJD patients belonging to a cluster in Southern Italy. | 23565236 | 2013 | |||||
Other Creutzfeldt-Jakob disease
|
0.100 | 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 | |||||
Other Creutzfeldt-Jakob disease
|
0.100 | GeneticVariation | BEFREE | An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene. | 20730466 | 2010 | |||||
Other Creutzfeldt-Jakob disease
|
0.100 | 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 | |||||
Other Creutzfeldt-Jakob disease
|
0.100 | GeneticVariation | BEFREE | To our knowledge, this is the first description of Abeta plaques in familial CJD with the E200K mutation. | 19822779 | 2009 | |||||
Other Creutzfeldt-Jakob disease
|
0.100 | 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 | |||||
Other Creutzfeldt-Jakob disease
|
0.100 | 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 | |||||
Other Creutzfeldt-Jakob disease
|
0.100 | GeneticVariation | BEFREE | Insomnia may be a prominent early symptom in cases of CJD linked to the E200K-129M haplotype in which the thalamus is severely affected. | 11839833 | 2002 | |||||
Other Creutzfeldt-Jakob disease
|
0.100 | GeneticVariation | BEFREE | A novel phenotype of familial Creutzfeldt-Jakob disease (CJD) with mutated codon 200 of the prion protein gene (PRNP) coupled with the valine codon 129 (E200K-129V haplotype) has two features never observed in subjects carrying the pathogenic mutation coupled with the methionine codon 129 (E200K-129M haplotype): (1) plaque-like prion protein (PrP) deposits in the cerebellum and (2) type 2 protease-resistant prion protein (PrP(res)). | 10360778 | 1999 | |||||
Other Creutzfeldt-Jakob disease
|
0.100 | GeneticVariation | BEFREE | We studied prion proteins (PrP) in skin and brains of Libyan Jews carrying the E200K mutation who died of familial Creutzfeldt-Jakob disease (CJD). | 8564843 | 1996 |