| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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0.800 | GeneticVariation | UNIPROT | HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. | 12960210 | 2003 | |||||||
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0.800 | GeneticVariation | UNIPROT | The parafibromin tumor suppressor protein is part of a human Paf1 complex. | 15632063 | 2005 | |||||||
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|
|
0.800 | GeneticVariation | UNIPROT | Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. | 16487440 | 2006 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. | 12434154 | 2002 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. | 18755853 | 2008 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. | 12434154 | 2002 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. | 18755853 | 2008 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | The parafibromin tumor suppressor protein is part of a human Paf1 complex. | 15632063 | 2005 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. | 12960210 | 2003 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. | 16487440 | 2006 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
0.700 | GeneticVariation | GWASCAT | Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis. | 28333195 | 2017 | |||||||
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|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.710 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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CT | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism. | 23293331 | 2013 |