PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Creutzfeldt-Jakob disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation BEFREE This report suggests to consider the diagnosis of V210I genetic CJD in patients presenting with the Heidenhain form of CJD and highlights the importance of genetic testing in all patients with isolated visual manifestations at onset followed by progressive neurological signs and dementia. 26268049 2016
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation BEFREE In genetic CJD associated with V210I or R208H PrP substitutions, the pathogenic role of mutant residues is still poorly understood. 25450391 2014
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation BEFREE MRI provides useful information in E200K and V210I gCJD patients. 22407223 2013
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation BEFREE In this work, we describe the NMR solution-state structure of the truncated recombinant human PrP (HuPrP) carrying the pathological V210I mutation linked to genetic Creutzfeldt-Jakob disease. 21839748 2011
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation UNIPROT Conformational diversity in prion protein variants influences intermolecular beta-sheet formation. 19927125 2010
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation BEFREE Six percent of all patients had a PRNP mutation, mainly D178N-129M (FFI), E200K and V210I.Iatrogenic CJD was a rare phenomenon. 17472986 2007
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation BEFREE The goodness of this method is demonstrated in the analysis of three sporadic CJD patients with different genotypes at codon 129 and three inherited cases bearing different point mutations of PRNP: the Pro102Leu mutation linked to Gerstmann-Sträussler-Scheinker-syndrome, the Val210Ile mutation and a novel mutation at codon 211 (Gln211Glu) both associated to familial CJD. 10936643 2000
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation UNIPROT Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. 10790216 2000
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation BEFREE Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease. 10526198 1999
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation UNIPROT Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease. 8909447 1996
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation UNIPROT Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene. 7906019 1994
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation UNIPROT Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease. 7913755 1994
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation UNIPROT A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. 7902693 1993
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation UNIPROT Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. 8461023 1993
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation UNIPROT Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. 1439789 1992
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation UNIPROT New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred. 1671440 1991
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.870 GeneticVariation UNIPROT Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia. 1975028 1990
dbSNP: rs74315407
rs74315407
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		A 0.870 CausalMutation CLINVAR