Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 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: 3717
Gene Symbol: JAK2
JAK2
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 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: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 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: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 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: 2153
Gene Symbol: F5
F5
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation ORPHANET Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients. 26238013

2016

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 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: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation BEFREE Analysis of JAK2 mutation in the patients with idiopathic PVT or BCS showed that 20% had latent MPNs. 25698270

2015

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation ORPHANET Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China. 26557140

2015

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 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

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation ORPHANET Risk of Budd-Chiari syndrome associated with factor V Leiden and G20210A prothrombin mutation: a meta-analysis. 24755609

2014

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation BEFREE Primary Budd-Chiari syndrome in a 3-year-old boy with homozygous factor V Leiden G1691A mutation. 23677252

2014

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 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: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation BEFREE Risk of Budd-Chiari syndrome associated with factor V Leiden and G20210A prothrombin mutation: a meta-analysis. 24755609

2014

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 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: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 CausalMutation CLINVAR JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients. 23980667

2014

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 CausalMutation CLINVAR Clinical features and etiology of Budd-Chiari syndrome in Chinese patients: a single-center study. 23425079

2013

Entrez Id: 2153
Gene Symbol: F5
F5
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 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: 3717
Gene Symbol: JAK2
JAK2
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 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: 3717
Gene Symbol: JAK2
JAK2
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 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: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 Biomarker BEFREE The presence of JAK2V617F in both ECs and hematopoietic cells belonging to BCS patients with PV indicates that ECs from these patients are involved by the malignant process and that in this subpopulation of patients the disease may originate from a cell common to hematopoietic and endothelial cells. 21761323

2011

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation BEFREE Here, we describe a young woman presenting with idiopathic eosinophilia, JAK2 mutation, and BCS. 21264914

2011

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 Biomarker CTD_human The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 19293426

2009

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 CausalMutation CLINVAR The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 19293426

2009

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 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: 3717
Gene Symbol: JAK2
JAK2
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 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