PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Gerstmann-Straussler-Scheinker Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315406
rs74315406
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.810 GeneticVariation UNIPROT Conformational diversity in prion protein variants influences intermolecular beta-sheet formation. 19927125 2010
dbSNP: rs74315406
rs74315406
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.810 GeneticVariation UNIPROT A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. 11709001 2001
dbSNP: rs74315406
rs74315406
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.810 GeneticVariation BEFREE We have now studied the folding and turnover of PrP32 to understand the mechanism by which abnormal PrP forms cause cellular toxicity in our cell culture model and in the human brain carrying the Gerstmann-Sträussler-Scheinker disease Q217R mutation. 10970892 2000
dbSNP: rs74315406
rs74315406
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.810 GeneticVariation UNIPROT Novel PRNP sequence variant associated with familial encephalopathy. 10581485 1999
dbSNP: rs74315406
rs74315406
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.810 GeneticVariation UNIPROT Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity. 9786248 1998
dbSNP: rs74315406
rs74315406
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.810 GeneticVariation UNIPROT Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation). 8797472 1996
dbSNP: rs74315406
rs74315406
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.810 GeneticVariation UNIPROT Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients. 7783876 1995
dbSNP: rs74315406
rs74315406
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.810 GeneticVariation UNIPROT A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study. 7699395 1994
dbSNP: rs74315406
rs74315406
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.810 GeneticVariation UNIPROT A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease. 7902972 1993
dbSNP: rs74315406
rs74315406
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.810 GeneticVariation UNIPROT Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles. 1363810 1992
dbSNP: rs74315406
rs74315406
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.810 GeneticVariation UNIPROT Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. 1439789 1992
dbSNP: rs74315406
rs74315406
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.810 GeneticVariation UNIPROT Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome. 2564168 1989
dbSNP: rs74315406
rs74315406
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		G 0.810 CausalMutation CLINVAR