Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Budd-Chiari Syndrome
|
0.770 | GeneticVariation | BEFREE | Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. | 16762626 | 2006 | |||||
Budd-Chiari Syndrome
|
0.770 | CausalMutation | CLINVAR | Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. | 16762626 | 2006 | |||||
Budd-Chiari Syndrome
|
0.770 | GeneticVariation | BEFREE | The purpose of this study was to use JAK2 V617F analysis to re-evaluate the validity of elevated Epo levels as a PV-exclusion criterion in patients with hepatic vein thrombosis [Budd-Chiari syndrome (BCS)]. | 16827884 | 2006 | |||||
Budd-Chiari Syndrome
|
0.770 | GeneticVariation | BEFREE | JAK2 V617F was identified in 35.6% of 73 patients with EHPVO and in 40% of 20 patients with BCS. | 17133457 | 2006 | |||||
Budd-Chiari Syndrome
|
0.770 | GeneticVariation | BEFREE | Determination of the JAK2 V617F mutation may be useful to recognize patients with Budd-Chiari syndrome with or at risk for the subsequent development of overt myeloproliferative diseases. | 18600100 | 2008 | |||||
Budd-Chiari Syndrome
|
0.770 | CausalMutation | CLINVAR | Determination of the JAK2 V617F mutation may be useful to recognize patients with Budd-Chiari syndrome with or at risk for the subsequent development of overt myeloproliferative diseases. | 18600100 | 2008 | |||||
Budd-Chiari Syndrome
|
0.770 | CausalMutation | CLINVAR | The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. | 19293426 | 2009 | |||||
Budd-Chiari Syndrome
|
0.770 | GeneticVariation | BEFREE | These results suggest that the JAK2-V617F mutation occurs after the onset of monoclonal haematopoiesis; thus the V617F mutation of JAK2 may not be the primary event in the induction of BCS. | 19308656 | 2009 | |||||
Budd-Chiari Syndrome
|
0.770 | CausalMutation | CLINVAR | Clinical features and etiology of Budd-Chiari syndrome in Chinese patients: a single-center study. | 23425079 | 2013 | |||||
Budd-Chiari Syndrome
|
0.770 | CausalMutation | CLINVAR | JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients. | 23980667 | 2014 | |||||
Budd-Chiari Syndrome
|
0.770 | CausalMutation | CLINVAR | Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis. | 25698270 | 2015 | |||||
Budd-Chiari Syndrome
|
0.770 | 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 | |||||
Budd-Chiari Syndrome
|
0.770 | GeneticVariation | BEFREE | Here, a 22 year old female with angiographically proven BCS secondary to JAK2/V617F positive Polycythemia vera on therapeutic warfarin presented with acute liver failure (ALF). | 26626649 | 2016 |