JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Primary Myelofibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 CausalMutation disease CGI
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 CausalMutation disease CLINVAR
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 SomaticCausalMutation disease ORPHANET
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease HPO
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease CTD_human A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. 15781101 2005
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. 15781101 2005
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Three studies now report an amino acid substitution in the JAK2 kinase in most patients with polycythemia vera as well as in some cases of essential thrombocythemia and chronic idiopathic myelofibrosis. 15837617 2005
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease LHGDN Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. 15837627 2005
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease CTD_human A gain-of-function mutation of JAK2 in myeloproliferative disorders. 15858187 2005
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. 15860661 2005
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE We therefore analyzed the Janus kinase 2 (Jak2) DNA sequence, EEC growth, PRV-1 expression, and c-Mpl (myeloproliferative) levels in a cohort of 78 myeloproliferative disorder (MPD) patients (42 ET, 22 PV, and 14 IMF). 15985544 2005
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE In addition, five specific areas are discussed in detail: the role of the trephine biopsy, the disease entity prefibrotic myelofibrosis; the recently described Janus kinase 2 (JAK2) mutations; the leukaemogenicity of hydroxyurea (hydroxycarbamide); and lastly, the implications of the results of the Medical Research Council Primary Thrombocythaemia 1 study are explored. 16029444 2005
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Recently, we and others identified a single recurrent somatic activating mutation (JAK2V617F) in the Janus kinase 2 (JAK2) tyrosine kinase in the myeloproliferative disorders (MPDs) polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. 16081687 2005
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE In order to explore the correlation between these two biological markers and compare their diagnostic utility, mutation analysis for JAK2(V617F) and quantitative measurement of granulocyte PRV-1 expression were performed on the same study sample from 100 participants: 38 with PV, 22 with essential thrombocythaemia (ET), 10 with agnogenic myeloid metaplasia (AMM), 19 with secondary polycythaemia (SP) and 11 healthy volunteers. 16197445 2005
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2 V617F) was found in 65% to 97% of polycythemia vera (PV) patients, as well as in approximately 50% of essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) patients. 16210033 2005
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE However, it is very clear that some patients with classical PV lack the JAK2 V617F mutation, while some patients with other chronic myeloproliferative disorders such as idiopathic myelofibrosis (IMF) and essential thrombocytosis (ET) also express the JAK2 V617F mutation. 16210034 2005
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE In the current study, mutation analysis for JAK2(V617F) was performed in peripheral blood mononuclear cells (PBMC) from 157 patients with myelofibrosis with myeloid metaplasia (MMM) including 117 with agnogenic (AMM), 22 with postpolycythaemic (PPMM), and 18 with post-thrombocythaemic (PTMM) myeloid metaplasia. 16225651 2005
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. 16293597 2006
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease CLINVAR V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. 16293597 2006
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE An acquired V617F mutation in JAK2 occurs in most patients with polycythaemia vera, but is seen in only half those with essential thrombocythaemia and idiopathic myelofibrosis. 16325696 2005
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE In polycythemia vera, JAK2 (V617F) was detected in 23 of 25 subjects at diagnosis and in 16 of 16 patients whose disease had evolved into myelofibrosis; median percentages of mutant alleles in these subgroups were significantly different (32% versus 95%, P < .001). 16373657 2006
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE High levels of circulating CD34 cells, dacrocytes, clonal hematopoiesis, and JAK2 mutation differentiate myelofibrosis with myeloid metaplasia from secondary myelofibrosis associated with pulmonary hypertension. 16418333 2006
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease LHGDN X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis. 16434490 2006
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease BEFREE To date, the presence of JAK2 in myelofibrosis with myeloid metaplasia has not been shown to have prognostic relevance. 16456374 2006