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: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE JAK2(V617F) mutation can be found in a large percentage of patients with myeloproliferative neoplasms. 19734476 2009
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE JAK2 V617F mutation is a molecular marker for myeloproliferative neoplasms (MPNs). 25015634 2014
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE With the advent of JAK2 inhibitor trials in myeloproliferative disorders, tumors with JAK2 mutations or rearrangements have become candidates for targeted therapy. 18618714 2008
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE There are recent reports that a JAK2 gene haplotype (GGCC or 46/1) confers susceptibility to JAK2 mutation-positive myeloproliferative neoplasms. 21173100 2011
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The JAK2 SNP is part of a haplotype previously associated with enhanced susceptibility to myeloproliferative neoplasms, but functional consequences of the STAT3 variant had not been previously demonstrated. 20109474 2010
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Undiagnosed myeloproliferative disease in cases of intra-abdominal thrombosis: the utility of the JAK2 617F mutation. 18328792 2008
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE These data suggest that erlotinib may be used for treatment of JAK2(V617F)-positive PV and other myeloproliferative disorders. 17178722 2007
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The molecular basis of JAK2 (V617F)-negative myeloproliferative neoplasms remains largely unexplained. 20528738 2010
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Our model-based hypothesis provides a useful approach for the investigation of the phenotype-genotype relationship in myeloproliferative disorders involving JAK2. 18671703 2008
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population. 22251709 2012
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE However, activating mutations of each of the Jaks are found in association with malignant transformation, the most common being gain-of-function mutations of Jak2 in polycythemia vera and other myeloproliferative disorders. 19290934 2009
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE A role for reactive oxygen species in JAK2 V617F myeloproliferative neoplasm progression. 23558526 2013
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The recurrent V617F mutation in JAK2 (JAK2V617F) has emerged as the primary contributor to the pathogenesis of myeloproliferative neoplasms (MPN). 26755644 2016
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Gain-of-function (GOF) mutations of Janus kinase 2 (JAK2) are frequently seen in myeloproliferative disorders (MPDs). 21599579 2011
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE TERT rs2736100 A>C SNP and JAK2 46/1 haplotype significantly contribute to the occurrence of JAK2 V617F and CALR mutated myeloproliferative neoplasms - a multicentric study on 529 patients. 27061303 2016
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The introduction of JAK2 mutation testing has changed dramatically the diagnostic algorithms for myeloproliferative neoplasms (MPNs) but there is still a place for conventional cytogenetic analysis in the initial work-up of MPN cases, particularly as this group of myeloid disorders has been expanded to include chronic eosinophilic leukaemia and myeloid neoplasms with abnormalities of the PDGFRA, PDGFRB, and FGFR1 genes. 21431636 2011
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. 16675710 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Activation of JAK2 by chromosomal translocation or point mutation is a recurrent event in hematopoietic malignancies, including acute leukemias and myeloproliferative disorders. 17077140 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The ability to simultaneously detect JAK2 V617F and MPL W515K/L mutations would substantially improve the early diagnosis of myeloproliferative neoplasms (MPNs) and decrease the risk of arterial thrombosis. 28819248 2017
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Association of TNF polymorphisms with JAK2 (V617F) myeloproliferative neoplasms in Brazilian patients. 26852656 2016
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The JAK2 V617F mutation has been implicated in a variety of diseases mainly related to myeloproliferative disorders including polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis with an increased demand for testing using molecular techniques. 19877761 2010
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Identification of janus kinase 2 (JAK2) mutation even in absence of myeloproliferative disorders (MPNs) was found to be related to venous thromboembolism occurrence. 31229378 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE We propose that JAK2 mutation analysis be considered in patients with recurrent, unexplained arterial events to identify those with occult myeloproliferative disorders. 19174256 2009
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Because JAK2 exon 12-positive PV cases lack the classic myeloproliferative morphologic features, bone marrow samples from the patients may be difficult to classify as myeloproliferative neoplasms. 20472853 2010
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE We aimed to determine the relative sensitivity of four separate molecular assays used to detect the presence of the JAK2 V617F mutation in peripheral blood from patients with essential thrombocythaemia and related myeloproliferative disorders. 16916724 2006