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: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.820 GeneticVariation BEFREE A 16 kDa thermolysin-resistant signature was also found in GSS patients with P102L, A117V, H187R and F198S alleles and has coordinates similar to GSS stop codon mutations. 29338055 2018
dbSNP: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.820 GeneticVariation UNIPROT Conformational diversity in prion protein variants influences intermolecular beta-sheet formation. 19927125 2010
dbSNP: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.820 GeneticVariation BEFREE These results are relevant to the pathogenic H187R mutation found in humans, which is associated with an inherited prion disease [also termed Gerstmann-Sträussler-Scheinker (GSS) syndrome] with unusual features such as childhood neuropsychiatric illness. 20718410 2010
dbSNP: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.820 GeneticVariation UNIPROT A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. 11709001 2001
dbSNP: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.820 GeneticVariation UNIPROT Novel PRNP sequence variant associated with familial encephalopathy. 10581485 1999
dbSNP: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.820 GeneticVariation UNIPROT Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity. 9786248 1998
dbSNP: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.820 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: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.820 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: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.820 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: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.820 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: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.820 GeneticVariation UNIPROT Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles. 1363810 1992
dbSNP: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.820 GeneticVariation UNIPROT Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. 1439789 1992
dbSNP: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		0.820 GeneticVariation UNIPROT Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome. 2564168 1989
dbSNP: rs74315413
rs74315413
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0017495
Disease:
Gerstmann-Straussler-Scheinker Disease 		G 0.820 CausalMutation CLINVAR