Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation 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
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE By real-time PCR, we showed that, upon exposure to ITF2357, JAK2(V617F) mRNA was not modified in granulocytes from PV patients while the expression of the PRV-1 gene, a known target of JAK2, was rapidly downmodulated. 18079739

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE These exon 12 mutants constituted 50% of PV JAK2 V617F-negative group and 4.4% (out of 90) of all PV patients (JAK2 V617F-positive and JAK2 V617F-negative). 27410038

2016

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE A novel mutation of MPL (Y591D), which was involved in this uniparental disomy, was found in 1 PV with JAK2 mutation. 18723266

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE The positive rate of JAK2 V617F in polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) was 82.0%, 36.6% and 51.1% respectively. 20331763

2010

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE The most common mutation-cytogenetic combinations in myeloproliferative neoplasm (MPN) were mutations of JAK2 or ASXL1 with del(20q) and were more common in patients with PMF and PV than in patients with ET. 28419183

2017

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE Finally, a significant correlation between JAK2 V617F mutational status and hematocrit (Ht), white blood cell and platelet counts in PV patients, and Ht values in ET cases, was observed by AS-PCR. 18720212

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 Biomarker CTD_human A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. 19287384

2009

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE The frequency of JAK2 V617F positivity in our PV patients was found to be 92.3%. 27039724

2016

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE JAK2 mutation analysis is now a formal component of diagnostic criteria for PV, ET, and PMF, but its prognostic utility is limited. 21220604

2011

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE In vitro expansion of PV erythroid progenitors and differentiated dendritic cells resulted in a decrease of the frequency of JAK2(V617F) allele compared with granulocytes or CD235(+) erythroid progenitors. 17379069

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE Biomarker analysis in polycythemia vera under interferon-alpha treatment: clonality, EEC, PRV-1, and JAK2 V617F. 17256145

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to the Polycythemia Vera Study Group or World Health Organization 2001 criteria. 22262773

2012

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE Polycythemia vera is a relatively common myeloproliferative neoplasm (MPN) molecularly defined by the presence of mutations in the janus kinase (JAK2) gene. 20805747

2010

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c mice induces MPD reminiscent of human PV, characterized by erythrocytosis, granulocytosis, extramedullary hematopoiesis, and bone marrow fibrosis, but not thrombocytosis. 17145859

2006

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE Therefore, in a patient with acquired erythrocytosis, it is reasonable to begin the diagnostic work-up with JAK2 mutation analysis to distinguish PV from secondary erythrocytosis. 20237866

2010

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE Therefore, in a patient with acquired erythrocytosis, it is reasonable to begin the diagnostic work-up with peripheral blood JAK2 mutation analysis and serum Epo measurement to distinguish PV from secondary erythrocytosis. 19295544

2009

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 Biomarker BEFREE Global miRNA analysis also revealed that polycythemia vera (JAKV617F) and essential thrombocythemia (JAK2 wild type) patients have significantly different miRNA expression profiles from each other. 22864358

2013

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE In polycythemia vera (PV) and essential thrombocythemia (ET) specific JAK2 mutations constitutively activate the JAK-STAT pathway, explaining biologic findings such as endogenous erythroid colony (EECs) growth or PRV-1 RNA overexpression. 18623127

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE The Janus kinase 2 (JAK2) V617F mutation was present in 34 (85.3%) PV, 2 (50%) IE, 1 (50%) apparent and no secondary erythrocytosis cases. 17454193

2007

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 Biomarker BEFREE Collectively, these data demonstrate that mast cells are involved in PV-associated pruritogenesis and that JAK2 inhibitors are potential antipruritus drugs. 24920845

2014

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation UNIPROT Here we isolated and characterized hematopoietic stem cells (HSC) and myeloid progenitors from 16 PV patient samples and 14 normal individuals, testing whether the JAK2 mutation could be found at the level of stem or progenitor cells and whether the JAK2 V617F-positive cells had altered differentiation potential. 16603627

2006

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN "The significance of bone marrow biopsy and JAK2V617F mutation in the differential diagnosis between the ""early"" prepolycythemic phase of polycythemia vera and essential thrombocythemia." 18701405

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation LHGDN Identification of an acquired JAK2 mutation in polycythemia vera. 15863514

2005

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
1.000 GeneticVariation BEFREE The JAK2 V617F somatic mutation is present in the majority of patients with myeloproliferative cancer (polycythaemia vera, essential thrombocytosis, and primary myelofibrosis). 23116358

2013