Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.860 | GeneticVariation | BEFREE | Paradoxically, the 129M/V polymorphism suggestive of heterozygote advantage is one of the most clear cut disease associated traits of the human population, yet prion disease is extraordinarily rare. | 24398570 | 2015 |
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0.860 | GeneticVariation | BEFREE | The M129V polymorphism influences the risk of prion diseases and may modulate the rate of neurodegeneration with age. | 23406923 | 2014 |
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0.860 | GeneticVariation | GWASDB | Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. | 22210626 | 2012 |
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0.860 | GeneticVariation | GWASCAT | Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. | 22210626 | 2012 |
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0.860 | GeneticVariation | BEFREE | The characterization of the PRNP gene should always include the description of the pathogenic mutation, as well as the status at each allele of the polymorphic codon 129 (M129V), a well-established susceptibility marker and phenotypic variability factor for different types of human prion diseases. | 19684471 | 2010 |
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0.860 | GeneticVariation | BEFREE | A single nucleotide polymorphism (SNP) in codon 129 of the human prion gene, leading to a change from methionine to valine at residue 129 of prion protein (PrP), has been shown to be a determinant in the susceptibility to prion disease. | 20685658 | 2010 |
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0.860 | GeneticVariation | BEFREE | The genetic variant at codon 129 (M129V) of the prion protein gene (PRNP) is considered to be a major genetic risk factor for prion diseases. | 20592456 | 2010 |
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0.860 | GeneticVariation | BEFREE | Knowledge of M129V polymorphism in normal populations may contribute to a better understanding of prion diseases. | 18720902 | 2008 |