PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: HUNTINGTON DISEASE-LIKE 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Quantifying prion disease penetrance using large population control cohorts. 26791950 2016
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset. 27803826 2016
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 GermlineCausalMutation disease ORPHANET Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation. 24275071 2015
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Structural effects of multiple pathogenic mutations suggest a model for the initiation of misfolding of the prion protein. 25959220 2015
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD. 25522698 2015
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR A pilot study of a genetic CJD risk factor (E200K) in the general Slovak population. 25064618 2014
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR In silico analysis of prion protein mutants: a comparative study by molecular dynamics approach. 23723004 2013
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Teaching neuroimages: Pseudohypertrophic cerebral cortex in end-stage Creutzfeldt-Jakob disease. 23296137 2013
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Codon 200 mutation of the prion gene: genotype-phenotype correlations. 22584955 2012
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Intraneuronal immunoreactivity for the prion protein distinguishes a subset of E200K genetic from sporadic Creutzfeldt-Jakob Disease. 22318125 2012
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Disease-associated mutations in the prion protein impair laminin-induced process outgrowth and survival. 23132868 2012
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Fatal prion disease in a mouse model of genetic E200K Creutzfeldt-Jakob disease. 22072968 2011
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy. 20593190 2011
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease 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
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PRNP. 20514992 2010
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR The unfolded state of the murine prion protein and properties of single-point mutants related to human prion diseases. 20541558 2010
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Fragment molecular orbital calculations reveal that the E200K mutation markedly alters local structural stability in the human prion protein. 20139714 2010
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Defective retrotranslocation causes loss of anti-Bax function in human familial prion protein mutants. 17494694 2007
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 Biomarker disease GENOMICS_ENGLAND Childhood onset in familial prion disease with a novel mutation in the PRNP gene. 16831973 2006
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Early intermediate in human prion protein folding as evidenced by ultrarapid mixing experiments. 16939293 2006
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR When sporadic disease is not sporadic: the potential for genetic etiology. 14967768 2004
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR "[Creutzfeldt-Jakob encephalopathy with mutation E200K. Report of a ""sporadic"" case]." 15366237 2004
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Disease-associated F198S mutation increases the propensity of the recombinant prion protein for conformational conversion to scrapie-like form. 12372829 2002
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease. 11839833 2002
CUI: C1864112
Disease: HUNTINGTON DISEASE-LIKE 1
HUNTINGTON DISEASE-LIKE 1 		0.700 CausalMutation disease CLINVAR Inherited prion disease caused by the V210I mutation: transmission to transgenic mice. 11756597 2001