| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | GeneticVariation | CLINVAR | Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | 25157968 | 2014 |
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|
G | 0.700 | GeneticVariation | CLINVAR | Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | 25157968 | 2014 |
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|
0.700 | GeneticVariation | UNIPROT | |||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
0.010 | GeneticVariation | BEFREE | A known polymorphisms (A to G substitution; rs879647) was identified in 9/80 parathyroid tumors but no tumor-specific somatic mutational aberrations, such as nonsense, frameshift, or other inactivating mutations were identified. | 20972721 | 2010 |
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|
0.010 | GeneticVariation | BEFREE | The Asp379Asn mutation is likely to disrupt interaction with the human homologue of the yeast Paf1 complex, and the demonstration of combined germline and somatic HRPT2 mutations in a parathyroid tumour provide further evidence for the tumour suppressor role of the HRPT2 gene. | 16487440 | 2006 |
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|
0.010 | GeneticVariation | BEFREE | The Asp379Asn mutation is likely to disrupt interaction with the human homologue of the yeast Paf1 complex, and the demonstration of combined germline and somatic HRPT2 mutations in a parathyroid tumour provide further evidence for the tumour suppressor role of the HRPT2 gene. | 16487440 | 2006 |
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|
0.010 | GeneticVariation | BEFREE | Transient overexpression of wild-type parafibromin, but not its Leu64Pro missense mutant implicated in parathyroid cancer and familial isolated hyperparathyroidism, inhibited cell proliferation, and blocked expression of cyclin D1, a key cell cycle regulator previously implicated in parathyroid neoplasia. | 15580289 | 2005 |
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0.010 | GeneticVariation | BEFREE | The variant A986S may possibly represent a risk factor for the development of parathyroid neoplasia in men. | 11580999 | 2001 |