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 We assessed the role of low EPO level for PV diagnosis in the context of positive JAK2 mutation status as well as other diagnostic parameters. 31525610 2020
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 Biomarker disease BEFREE JAK2 inhibitors and interferon-α are the established therapies in MF and high-risk PV patients. 31741139 2020
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Inflammatory and oncogenic signaling converge in disease evolution of BCR-ABL-negative myeloproliferative neoplasms, clonal hematopoietic stem cell disorders characterized by gain-of-function mutation in JAK2 kinase (JAK2V617F), with highest prevalence in patients with polycythemia vera (PV). 30967632 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE One hundred five Philadelphia-negative MPN patients, including polycythemia vera (PV), essential thrombocythaemia (ET), and primary myelofibrosis (PMF) were initially screened for JAK2 mutations by amplification-refractory mutation system (ARMS-PCR) methodology and were further subjected to detection of CALR gene mutations by our in-house assay, a PCR based amplicon length differentiation assay (PCR-ALDA). 31248375 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE The V617F mutation in the JH2 domain of JAK2 is an oncogenic driver in several myeloproliferative neoplasms (MPNs), including essential thrombocythemia, myelofibrosis, and polycythemia vera (PV). 31697804 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE IPF analysis was performed on 22 patients with known JAK2 V617F mutation and 41 patients who were negative for this mutation previously tested because of suspicion of PV. 30601597 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 Biomarker disease BEFREE Ruxolitinib is a JAK-1/JAK-2 inhibitor indicated for the treatment of polycythemia vera and primary or secondary myelofibrosis. 30639623 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE In the absence of BCR-ABL, the conventional diagnostic algorithm recommends JAK2 V617F mutation testing to support diagnosis of other MPN diseases such as polycythemia vera, essential thrombocythemia, and primary myelofibrosis. 30772299 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE The Janus kinase 2 (<i>JAK2</i>) V617F mutation is common in patients with breakpoint cluster region-Abelson1 (<i>BCR-ABL1</i>)-negative myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in <i>BCR-ABL1-</i>positive chronic myeloid leukemia (CML) patients. 31123683 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE An activating mutation in JAK2 (V617F) is present in ~ 95% of polycythemia vera, essential thrombocythemia, and primary myelofibrosis cases. 30717771 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE We found that ASXL1 or EZH2 mutation acquisition after JAK2 leads to PV, while ASXL1 mutation acquisition before JAK2 leads to ET or PMF. 31704857 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE The advances in molecular insights, especially the discovery of the Janus kinase 2 (JAK2) V617F mutation and its role in JAK-STAT pathway dysregulation, led to the development of the JAK inhibitor ruxolitinib, which currently represents the cornerstone of medical therapy in MF and hydroxyurea-resistant/intolerant PV. 31228096 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 AlteredExpression disease BEFREE We found that JAK1/2 or JAK2 inhibition prevented the IL-6 activation of STAT3 and AKT pathways in polycythemia vera and HEL cells. 30571852 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 Biomarker disease BEFREE Blood tests and a bone marrow biopsy revealed a diagnosis of JAK2 positive primary polycythaemia rubra vera. 31101584 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Aberrant JAK2 tyrosine kinase signaling drives the development of Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia, and primary myelofibrosis. 31725895 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE In addition, the presence of JAK2 mutation is expected in PV while approximately 90% of patients with ET express mutually exclusive JAK2, CALR, or myeloproliferative leukemia mutations. 30281843 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 Biomarker disease BEFREE JAK-STAT signaling dysregulation has been noted in inflammatory disorders, and aberrant JAK2 pathway activation has been implicated in myelofibrosis and polycythemia vera. 31560729 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Deletion of miR-451 curbs JAK2(V617F)-induced erythrocytosis in polycythemia vera by oxidative stress-mediated erythroblast apoptosis and hemolysis. 31399524 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 Biomarker disease BEFREE MPN patients with VTEs were significantly more female (p = 0.028), JAK2 positive (p = 0.018), or had a polycythemia vera (p = 0.009). 30155552 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE In 2007, this 82-year-old man with essential thrombocythemia since 1994 developed primary polycythemia with the JAK2 mutation V617F. 30471421 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE It has been observed that, during a course of disease, transformation from JAK2-mutated essential thrombocythemia (ET) to overt polycythemia vera (PV) can occur. 31449697 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE In this article, we report a unique patient with polycythemia vera driven by a rare complex in-frame deletion-insertion mutation in JAK2 exon 12, and CML driven by uncommon p210 e14a3 (b3a3) BCR/ABL fusion transcript. 30463063 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE Myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), are often characterized by specific somatic mutations in any of the three genes: JAK2, CALR, or MPL. 31571131 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 Biomarker disease BEFREE The whole body <sup>18</sup>F-FDG scan of a JAK2+ PV patient before treatment (a) as compared to a matched subject (b) is found below; of note is the PV patient's elevated uptake in the pelvis, femur and spine. 30843002 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
1.000 GeneticVariation disease BEFREE We further aim to investigate Jak2 exon 12 mutations in larger number of PV patients to assess their clinical relevance and role in disease onset, progression and transformation. 30519338 2018