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: C0032461
Disease: Polycythemia
Polycythemia
0.500 GeneticVariation disease BEFREE Phenotype transformation to polycythemia was proven to be possible within the group of JAK2-mutated ET; however, cause of this effect remains uncertain. 31449697 2019
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 Biomarker disease BEFREE To test this, C57BL/6J chow-fed mice received either chronic intraperitoneal (ip) or repeated intracerebroventricular (icv) administration of the selective Jak2 inhibitor NVP-BSK805, which was proven efficacious in treating polycythemia in rodents. 29867515 2018
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 Biomarker disease BEFREE Investigation for polycythaemia and thrombocytosis showed JAK2 positive myeloproliferative neoplasm.A diagnosis of AOP infarction is often missed or delayed because it is rare and presents with variable neurological symptoms. 29592977 2018
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 GeneticVariation disease BEFREE This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozygotes is due to the loss of JAK2 regulation from VHL R200W and H191D binding to SOCS1. 23403324 2013
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 GeneticVariation disease BEFREE JAK2(V617F) failed to induce polycythemia in recipients after deletion of Stat5a/b, although the loss of STAT5 did not prevent the development of myelofibrosis. 22234689 2012
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 GeneticVariation disease 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
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 GeneticVariation disease BEFREE Nested high-resolution melting curve analysis a highly sensitive, reliable, and simple method for detection of JAK2 exon 12 mutations--clinical relevance in the monitoring of polycythemia. 21497288 2011
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 Biomarker disease BEFREE Potent and selective inhibition of polycythemia by the quinoxaline JAK2 inhibitor NVP-BSK805. 20587663 2010
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 GeneticVariation disease LHGDN JAK2 exon 12 mutation in JAK2V617F-negative polycythemia vera. 18297539 2008
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 Biomarker disease LHGDN Validity test study of JAK2 V617F and allele burden quantification in the diagnosis of myeloproliferative diseases. 18575865 2008
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 Biomarker disease CTD_human JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. 17267906 2007
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 GeneticVariation disease LHGDN JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. 17267906 2007
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 GeneticVariation disease BEFREE The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis. 17317861 2007
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 GeneticVariation disease LHGDN JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis. 18056003 2007
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 GeneticVariation disease BEFREE At the forefront are the mutually exclusive exon 14 (JAK2V617F) and exon 12 JAK2 mutations that are almost always present in PV but not in polycythemias of other causes. 17493421 2007
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 GeneticVariation disease LHGDN The JAK2 617V>F mutation triggers erythropoietin hypersensitivity and terminal erythroid amplification in primary cells from patients with polycythemia vera. 17389763 2007
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 Biomarker disease BEFREE Polycythemia and reticulocytosis responded to treatment with imatinib or a JAK2 inhibitor, but were unresponsive to the Src inhibitor dasatinib. 17183644 2006
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 GeneticVariation disease BEFREE This work demonstrates that JAK2(V617F) is sufficient for polycythemia and fibrosis development and offers an in vivo model to assess novel therapeutic approaches for JAK2(V617F)-positive pathologies. 16670266 2006
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 GeneticVariation disease BEFREE Retroviral transduction of the mutant JAK2 into murine HSC leads to the development of an MPD with polycythemia. 16304380 2005
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 Biomarker disease BEFREE Functional analysis demonstrates that this mutation confers erythropoietin-independent growth in vitro, deregulates signaling pathways downstream of JAK2, and causes polycythemia in mice. 15837617 2005
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.500 CausalMutation disease CLINVAR