JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 Biomarker disease BEFREE Ruxolitinib treatment in an infant with JAK2+ polycythaemia vera-associated Budd-Chiari syndrome. 28710306 2017
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation disease 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
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation disease 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
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation disease BEFREE Analysis of JAK2 mutation in the patients with idiopathic PVT or BCS showed that 20% had latent MPNs. 25698270 2015
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation disease ORPHANET Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China. 26557140 2015
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 CausalMutation disease 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
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation disease BEFREE JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients. 23980667 2014
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 CausalMutation disease CLINVAR JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients. 23980667 2014
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 CausalMutation disease CLINVAR Clinical features and etiology of Budd-Chiari syndrome in Chinese patients: a single-center study. 23425079 2013
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation disease 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
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation disease BEFREE The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis. 21364191 2011
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 Biomarker disease 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
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation disease BEFREE Here, we describe a young woman presenting with idiopathic eosinophilia, JAK2 mutation, and BCS. 21264914 2011
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 Biomarker disease CTD_human The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 19293426 2009
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 CausalMutation disease CLINVAR The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome. 19293426 2009
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation disease 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
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation disease 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
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 CausalMutation disease CLINVAR Occurrence of the JAK2 V617F mutation in the Budd-Chiari syndrome. 18600100 2008
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation disease LHGDN JAK2V617F mutation as a marker of a latent myeloproliferative disorder in a patient with Budd-Chiari syndrome and factor V Leiden mutation. 17849060 2007
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 Biomarker disease CTD_human Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 16762626 2006
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation disease 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
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 CausalMutation disease CLINVAR Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. 16762626 2006
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation disease 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
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 GeneticVariation disease 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
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.700 Biomarker disease HPO