| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Hereditary hemorrhagic telangiectasia in Japanese patients. | 24196379 | 2014 |
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T | 0.700 | GeneticVariation | CLINVAR | Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. | 23722869 | 2014 |
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T | 0.700 | GeneticVariation | CLINVAR | Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. | 23919827 | 2013 |
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T | 0.700 | GeneticVariation | CLINVAR | Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia. | 18673552 | 2008 |
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T | 0.700 | GeneticVariation | CLINVAR | Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. | 17384219 | 2007 |
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T | 0.700 | GeneticVariation | CLINVAR | Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. | 17786384 | 2007 |
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T | 0.700 | GeneticVariation | CLINVAR | DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. | 16429404 | 2006 |
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T | 0.700 | GeneticVariation | CLINVAR | Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. | 15517393 | 2005 |
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T | 0.700 | GeneticVariation | CLINVAR | Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. | 15024723 | 2004 |
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T | 0.700 | GeneticVariation | CLINVAR | Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. | 15065824 | 2004 |