Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE The constitutively active Janus kinase 2 mutant Jak2-V617F is responsible for cytokine-independent growth of hematopoietic cells and the development of myeloproliferative neoplasms, such as polycythaemia vera and essential thrombocythaemia. 28365441 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE One of the major genetic insights into the pathogenesis of polycythaemia vera included the identification of the somatic point gain-of-function mutations in Janus kinase 2 gene-first <i>JAK2V617F</i> on exon 14, present in 95%-97% of the cases, and later on exon 12. 29021147 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE The World Health Organization classification system recognizes 4 variants of JAK2 mutation-enriched myeloproliferative neoplasms (for expansion of gene symbols, use search tool at www.genenames.org): essential thrombocythemia (ET), polycythemia vera (PV), primary myelofibrosis (PMF), and prefibrotic PMF. 28778261 2017
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE JAK2 is mutated (V617F) in more than 90 % of patients with polycythemia vera (PV) and approximately 60 % of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). 27468853 2017
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE We retrospectively examined the clinical and biological characteristics of 13 patients with concomitant CLL and MPN--eight primary myelofibrosis (PMF), three essential thrombocytosis (ET), and two polycythemia vera (PV)--who presented to our institution between 1998 and 2014, and tested all patients for MPN-specific aberrations, such as JAK2, MPL and CALR mutations. 26402369 2017
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE JAK2 mutations define polycythemia vera (PV), CALR and MPL mutations are specific to JAK2 unmutated essential thrombocythemia (ET) and primary myelofibrosis (PMF). 27067982 2017
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are classical myeloproliferative neoplasms (MPN), characterized by specific somatic mutations in JAK2, CALR or MPL genes. 29047144 2017
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Ruxolitinib reduces JAK2 p.V617F allele burden in patients with polycythemia vera enrolled in the RESPONSE study. 28456851 2017
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE High frequency of JAK2 exon 12 mutations in Korean patients with polycythaemia vera: novel mutations and clinical significance. 27198504 2017
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE In excess of 90% of patients with polycythaemia vera (PV) express a mutated form of Janus kinase 2 (JAK2), JAK2V617F. 28533538 2017
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE The 2005 JAK2 V617F discovery and the 2008 WHO diagnostic guideline for the JAK2 V617F mutation coincide with a 31 % increase in ET and a 21 % decrease in PV incidence rates. 25968903 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE The frequency of the V617F JAK2 mutation was highest in patients with PV where 56 out of 70 cases (80%) carried the mutation, followed by ET with 6 of 24 (25) and IMF with 2 of 16 (12.5%) . 26617890 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Two additional SNPs, rs2736100 (TERT) and rs9376092 (HBS1L/MYB), achieve genome-wide significance when including JAK2(V617F)-positive cases. rs9376092 has a stronger effect in JAK2(V617F)-negative cases with CALR and/or MPL mutations (Breslow-Day P=4.5 × 10(-7)), whereas in JAK2(V617F)-positive cases rs9376092 associates with essential thrombocythemia (ET) rather than polycythemia vera (allelic χ(2) P=7.3 × 10(-7)). 25849990 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 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
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE The granulocytes for proteomic studies were pooled in 4 groups: PV with JAK2 mutant allele burden above 80%, ET with JAK2 mutation, PMF with JAK2 mutation and ET/PMF with no JAK2 mutation. 26275051 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE The etiology of myeloproliferative neoplasms (MPN) (polycythemia vera; essential thrombocythemia; primary myelofibrosis) is unknown, however they are associated with a somatic mutation--JAK2 V617F--suggesting a potential role for environmental mutagens. 25719551 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery of JAK2 V617F. 26324368 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Incidence and risk factors for myelofibrotic transformation among 272 Chinese patients with JAK2-mutated polycythemia vera. 26370613 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE We studied samples from 1088 persons with myeloproliferative neoplasms (MPNs) including 421 JAK2(V617F) negative subjects with ET, PMF, polycythemia vera (PV), chronic myeloid leukemia (CML) and hyper-eosinophilic syndrome (HES). 25860380 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE A Case of Recurrent Ischemic Stroke Involving Subacute, Progressive Intracranial Cerebral Arterial Sclerosis Prior to Diagnosis with JAK2-mutated Polycythemia Vera. 26432562 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Expression analysis of microRNA-125 in patients with polycythemia vera and essential thrombocythemia and correlation with JAK2 allele burden and laboratory findings. 26011312 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 Biomarker disease BEFREE Five patients had long-standing ET (three were calreticulin (CALR)-positive, one janus kinase 2 (JAK2)-positive, and one JAK2-negative and CALR-negative), and one had long-standing JAK2-positive PV prior to starting Peg-IFN. 26961933 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Since the discovery of the JAK2 V617F mutation in the majority of the myeloproliferative neoplasms (MPN) of polycythemia vera, essential thrombocythemia and primary myelofibrosis ten years ago, further MPN-specific mutational events, notably in JAK2 exon 12, MPL exon 10 and CALR exon 9 have been identified. 25951317 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 Biomarker disease BEFREE The main rationale for these changes was to enhance the distinction between so-called masked PV and JAK2-mutated ET and between ET and prefibrotic early PMF. 26832847 2016
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Interferon-α has been used in PV and has shown significant activity in achieving hematologic responses and decreasing JAK2 V617F mutation allele burden. 26975864 2016