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
A 0.700 CausalMutation CLINVAR A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset. 27803826

2016
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR Quantifying prion disease penetrance using large population control cohorts. 26791950

2016
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD. 25522698

2015
dbSNP: rs74315405
rs74315405
PRNP
C 0.700 CausalMutation CLINVAR Structural effects of multiple pathogenic mutations suggest a model for the initiation of misfolding of the prion protein. 25959220

2015
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR A pilot study of a genetic CJD risk factor (E200K) in the general Slovak population. 25064618

2014
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR In silico analysis of prion protein mutants: a comparative study by molecular dynamics approach. 23723004

2013
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR Teaching neuroimages: Pseudohypertrophic cerebral cortex in end-stage Creutzfeldt-Jakob disease. 23296137

2013
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR Codon 200 mutation of the prion gene: genotype-phenotype correlations. 22584955

2012
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR Disease-associated mutations in the prion protein impair laminin-induced process outgrowth and survival. 23132868

2012
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR Intraneuronal immunoreactivity for the prion protein distinguishes a subset of E200K genetic from sporadic Creutzfeldt-Jakob Disease. 22318125

2012
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR Familial CJD associated PrP mutants within transmembrane region induced Ctm-PrP retention in ER and triggered apoptosis by ER stress in SH-SY5Y cells. 21298055

2011
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy. 20593190

2011
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR Fatal prion disease in a mouse model of genetic E200K Creutzfeldt-Jakob disease. 22072968

2011
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR Fragment molecular orbital calculations reveal that the E200K mutation markedly alters local structural stability in the human prion protein. 20139714

2010
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PRNP. 20514992

2010
dbSNP: rs74315405
rs74315405
PRNP
C 0.700 CausalMutation CLINVAR The unfolded state of the murine prion protein and properties of single-point mutants related to human prion diseases. 20541558

2010
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR Defective retrotranslocation causes loss of anti-Bax function in human familial prion protein mutants. 17494694

2007
dbSNP: rs74315405
rs74315405
PRNP
C 0.700 CausalMutation CLINVAR Early intermediate in human prion protein folding as evidenced by ultrarapid mixing experiments. 16939293

2006
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR "[Creutzfeldt-Jakob encephalopathy with mutation E200K. Report of a ""sporadic"" case]." 15366237

2004
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR When sporadic disease is not sporadic: the potential for genetic etiology. 14967768

2004
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease. 11839833

2002
dbSNP: rs74315405
rs74315405
PRNP
C 0.700 CausalMutation CLINVAR Disease-associated F198S mutation increases the propensity of the recombinant prion protein for conformational conversion to scrapie-like form. 12372829

2002
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR Inherited prion disease caused by the V210I mutation: transmission to transgenic mice. 11756597

2001
dbSNP: rs28933385
rs28933385
PRNP
A 0.700 CausalMutation CLINVAR A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein. 10360778

1999
dbSNP: rs74315405
rs74315405
PRNP
C 0.700 CausalMutation CLINVAR Influence of amino acid substitutions related to inherited human prion diseases on the thermodynamic stability of the cellular prion protein. 10079068

1999