Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.700 | GeneticVariation | UNIPROT | Conformational diversity in prion protein variants influences intermolecular beta-sheet formation. | 19927125 | 2010 |
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0.700 | GeneticVariation | UNIPROT | A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. | 11709001 | 2001 |
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0.700 | GeneticVariation | UNIPROT | Novel PRNP sequence variant associated with familial encephalopathy. | 10581485 | 1999 |
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0.700 | GeneticVariation | UNIPROT | Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity. | 9786248 | 1998 |
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0.700 | 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 |
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0.700 | GeneticVariation | UNIPROT | Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients. | 7783876 | 1995 |
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0.700 | 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 |
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0.700 | 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 |
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0.700 | GeneticVariation | UNIPROT | Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles. | 1363810 | 1992 |
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0.700 | GeneticVariation | UNIPROT | Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. | 1439789 | 1992 |
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0.700 | GeneticVariation | UNIPROT | Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome. | 2564168 | 1989 |