Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 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

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE We report the case of a young patient with a coagulation disorder secondary to a mutation of factor V Leiden, who presented with upper digestive bleeding as the first manifestation of Budd Chiari syndrome and who also was associated with myocardial infarction in his past medical history. 23799222

2013

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE Factor V Leiden was the most common risk factor, i.e., 14 of 53 (26.4%) in BCS cases followed by protein C, as compared with PVT cases, i.e., 2 of 33 (6.06%) and controls, i.e., 5 of 223 (2.3%). 11584361

2001

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE Associations of coagulation factor V Leiden and prothrombin G20210A mutations with Budd-Chiari syndrome and portal vein thrombosis: a systematic review and meta-analysis. 24793031

2014

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 Biomarker BEFREE Ruxolitinib treatment in an infant with JAK2+ polycythaemia vera-associated Budd-Chiari syndrome. 28710306

2017

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 Biomarker BEFREE The relationship between the levels and function of endothelial progenitor cells and factor V Leiden and protein C deficiency in patients with primary Budd-Chiari syndrome. 29771426

2018

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE This study aimed to evaluate the association of factor V Leiden (FVL), Janus kinase 2 (JAK2), prothrombin, and methylene tetrahydrofolate reductase (MTHFR) mutations with primary BCS. 26238013

2016

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE This study aimed to evaluate the association of factor V Leiden (FVL), Janus kinase 2 (JAK2), prothrombin, and methylene tetrahydrofolate reductase (MTHFR) mutations with primary BCS. 26238013

2016

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE Risk of Budd-Chiari syndrome associated with factor V Leiden and G20210A prothrombin mutation: a meta-analysis. 24755609

2014

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE By resolving the sensitivity bias of the JAK2 mutation with the results of BM histology and clonality assay, CMPD was diagnosed in 53% of patients with EHPVO or BCS. 17133457

2006

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients. 23980667

2014

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 Biomarker BEFREE To assess the specific features of factor V Leiden related Budd-Chiari syndrome. 11156651

2001

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE A clonal mutation in JAK2 tyrosine kinase (JAK2V617F) occurs in a high proportion of patients with MPD and is of use in the characterization of latent MPD in BCS. 16762626

2006

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE Analysis of JAK2 mutation in the patients with idiopathic PVT or BCS showed that 20% had latent MPNs. 25698270

2015

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 Biomarker BEFREE We describe the first case of Budd-Chiari syndrome due to homozygosity for factor V Leiden resulting in resistance to activated protein C. This is now recognized as the most common procoagulant disorder, and may account for many cases of Budd-Chiari syndrome previously though to be idiopathic or due to a latent myeloproliferative disorder. 8889463

1996

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis. 21364191

2011

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE The incidence and clinical outcomes of JAK2 mutations, novel ten-eleven translocation 2 (TET2) mutations, and the 46/1 haplotype in BCS are unknown for liver transplantation (LT). 22467227

2012

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 Biomarker BEFREE To avoid unnecessary long-term anticoagulation after liver transplantation, factor V Leiden should be considered as a pathogenic factor in BCS. 10980068

2000

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE The cause of the BCS still being unknown, in October 1996 we performed extensive laboratory investigations concerning states of thrombophilia and found moderately elevated IgG anticardiolipin antibodies (19.7 U/ml) and a resistance against activated protein C caused by heterozygosity for a point mutation of the factor V gene (1691G-->A; factor V Leiden). 10378363

1999

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE We here report a case of subacute Budd-Chiari syndrome (BCS) related to Factor V Leiden (FVL) mutation in the presence of visceral leishmaniasis. 15815883

2004

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE Here, we describe a young woman presenting with idiopathic eosinophilia, JAK2 mutation, and BCS. 21264914

2011

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.600 GeneticVariation BEFREE Primary Budd-Chiari syndrome in a 3-year-old boy with homozygous factor V Leiden G1691A mutation. 23677252

2014