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: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 GeneticVariation BEFREE To understand how V210I or R208H PrP mutations facilitate the development of the disease, we determined by mass spectrometry the quantitative ratio of mutant/wild-type PrP(CJD) allotypes in brains from affected subjects. 25450391 2014
dbSNP: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 GeneticVariation BEFREE The first Chinese case of Creutzfeldt-Jakob disease patient with R208H mutation in PRNP. 21791975 2013
dbSNP: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 GeneticVariation UNIPROT Conformational diversity in prion protein variants influences intermolecular beta-sheet formation. 19927125 2010
dbSNP: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
dbSNP: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 GeneticVariation BEFREE This study strengthens the linkage of the R208H mutation to Creutzfeldt-Jakob disease and points to some particular features such as Kuru plaques and long-standing psychiatric signs. 16533975 2006
dbSNP: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 GeneticVariation BEFREE Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene. 15753435 2005
dbSNP: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 GeneticVariation BEFREE Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment. 15739100 2005
dbSNP: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 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: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 GeneticVariation UNIPROT Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease. 8909447 1996
dbSNP: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 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: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 GeneticVariation UNIPROT Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene. 7906019 1994
dbSNP: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 GeneticVariation UNIPROT A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. 7902693 1993
dbSNP: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 GeneticVariation UNIPROT Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. 8461023 1993
dbSNP: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 GeneticVariation UNIPROT Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. 1439789 1992
dbSNP: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 GeneticVariation UNIPROT New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred. 1671440 1991
dbSNP: rs74315412
rs74315412
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0022336
Disease:
Creutzfeldt-Jakob disease 		0.750 GeneticVariation UNIPROT Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia. 1975028 1990