Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.070 | GeneticVariation | BEFREE | The JAK2 V617F mutation was identified in six of 28 patients (21.4%) with idiopathic PVT or BCS and in eight of 45 patients (17.8%) with PVT or BCS secondary to a known prothrombotic factor, but in only one of 38 patients (2.6%) with PVT and cirrhosis (p=0.049). | 25698270 | 2015 |
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0.070 | GeneticVariation | BEFREE | This study provides evidence that a relevant proportion of cirrhotic patients with PVT harbours a JAK2 V617F mutation. | 25115839 | 2015 |
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0.070 | GeneticVariation | BEFREE | The aim of this study was to describe the prevalence of main hereditary thrombophilias, Janus kinase 2 (JAK2) V617F mutation, antiphospholipid antibody syndrome (APS), and hyperhomocysteinemia in Brazilian children and adolescents diagnosed with portal vein thrombosis (PVT) without associated hepatic disease. | 22684349 | 2012 |
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0.070 | GeneticVariation | BEFREE | In this group, 4 out of 7 of the patients with PVT carried the JAK2 V617F mutation with or without overt MPD. | 21893442 | 2011 |
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0.070 | GeneticVariation | BEFREE | The JAK2 V617F point mutation was found in 3 patients with extrahepatic portal vein thrombosis who had multiple thrombotic events but did not fulfill the traditional diagnostic criteria for MPDs. | 18328792 | 2008 |
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0.070 | GeneticVariation | BEFREE | We recommend testing for JAK2(V617F) in all patients with unexplained HVT or PVT, to identify latent MPDs and prevent potential complications. | 19046316 | 2008 |
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0.070 | GeneticVariation | BEFREE | JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause of portal vein thrombosis in two middle-aged women: therapeutic implications in view of the literature. | 17687555 | 2007 |