JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE In 2007, this 82-year-old man with essential thrombocythemia since 1994 developed primary polycythemia with the JAK2 mutation V617F. 30471421 2019
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation 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
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE A JAK2 variant in addition to JAK2 V617F (n = 13) in myelofibrosis was associated with an increased cumulative risk of transformation into AML (P = .003). 30811597 2019
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation 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
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE An activating mutation in JAK2 (V617F) is present in ~ 95% of polycythemia vera, essential thrombocythemia, and primary myelofibrosis cases. 30717771 2019
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation 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
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation 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
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE Deletion of miR-451 curbs JAK2(V617F)-induced erythrocytosis in polycythemia vera by oxidative stress-mediated erythroblast apoptosis and hemolysis. 31399524 2019
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE Moreover, leukocytes > 18 × 10<sup>9</sup>/L and V617F burden allele > 25.7% were statistically significantly different in PV</span> patients (P = .019 and borderline significant at P = .055, respectively), while in ET patients leukocytes > 9.2 × 10<sup>9</sup>/L (P < .001) and age at diagnosis of > 55 years were statistically significantly different (P = .002). 30301673 2019
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation 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
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE These observations of our case raise two possibilities: either transient posttreatment thrombocythemia is a feature of AML with JAK2 V617F mutation, or this was a case of secondary AML. 29979407 2018
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE The results suggested that plasma Dkk-1 levels could differentiate ET from pre-PMF, in JAK2 V617F-positive as well as in CALR-positive patients, and also ET from PV in JAK2 V617F-positive patients. 29975001 2018
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE Overall response rates (ORRs) in patients with JAK2 V617F-mutated PV, ET, and MF were 95%, 90.5%, and 9.1%, respectively, while patients with ET and MF without the JAK2 V617F mutations had ORRs of 43.7% and 0%, respectively. 30025280 2018
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE The prevalence of JAK2 V617F mutations is higher than 95% in PV, 50%-75% in ET and 40%-75% in PMF. 30502850 2018
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE A point mutation in exon 14 of the JAK2 gene resulting in the formation of the JAK2 V617F transcript occurs in 95% of PV patients and around 50% of ET and PMF patients driving constitutive activation of the JAK/STAT pathway. 30558676 2018
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE These findings in this largest study of JAK2 V617F-mutated AMLs indicate that AML-DN is distinct from AML-MPN. 29767839 2018
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE Evaluations revealed right renal artery stenosis causing renovascular hypertension and polycythemia vera with JAK2 V617F mutation. 29656438 2018
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE However, when a patient presents with isolated thrombocytosis and a positive JAK2 V617F assay, particularly a young woman, the possibility of PV must always be considered because of plasma volume expansion. 29516275 2018
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE Detection of Exon 12 and 14 Mutations in Janus Kinase 2 Gene Including a Novel Mutant in V617F Negative Polycythemia Vera Patients from Pakistan. 30519338 2018
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE The JAK2 V617F mutation was positive before and after the diagnosis of PV; however, new chromosomal abnormalities were detected during the progression. 28700486 2017
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation 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 2017
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE In multivariable analysis, younger age (P=0.002), platelet count (P<0.001), hemoglobin level (P=0.01) and JAK2 V617F mutation (P=0.01) independently predicted the development of AVWS among ET patients; whereas only platelet count predicted its development among PV patients (P<0.001). 27919526 2017
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE Here we show that retroviral overexpression of Jak2 V617F mutant into wild-type p53 murine bone marrow cells induced polycythemia vera (PV) in the recipient mice, whereas Jak2 V617F-transduced p53-null mice developed lethal leukemia after the preceding PV phase. 28068330 2017
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE The discovery of the JAK2 V617F mutation and consequently targeted therapy with Janus kinase inhibitors, in particular ruxolitinib, has extended the spectrum of agents that can be used as second or third line in PV. 28491265 2017
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0032463
Disease:
Polycythemia Vera
0.900 GeneticVariation BEFREE The discovery of a JAK2 point mutation (JAK2 V617F) as the main cause of polycythemia vera lead to the development and FDA approval of a JAK1/2 inhibitor, ruxolitinib, in 2011. 28277287 2017