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: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker group LHGDN Methods for the detection of the JAK2 V617F mutation in human myeloproliferative disorders. 16502590 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. 16537803 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker group BEFREE Recently, several groups identified a recurrent somatic point mutation constitutively activating the hematopoietic growth factor receptor-associated JAK2 tyrosine kinase in diverse chronic myeloid disorders - most commonly classic myeloproliferative disorders (MPD), especially polycythemia vera. 16598306 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE DNA from 161 samples was isolated from peripheral blood granulocytes and formalin-fixed bone marrow clot sections in patients with CMPDs and without myeloproliferative disorders previously genotyped for the JAK2 V617F (G-->T) mutation, which included 114 wild types (GG) and 47 mutants (GT and TT). 16627272 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The V617F activating point mutation in Jak2 has recently been associated with myeloproliferative disorders. 16632470 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Questions remain regarding the exact contribution of JAK2(V617F) in other myeloproliferative disorders. 16670266 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Recent information regarding disease pathogenesis, including a contribution to the myeloproliferative disorder phenotype by a gain-of-function JAK2 mutation (JAK2(V617F)), has revived the prospect of targeted therapeutics as well as molecular monitoring of treatment response. 16675707 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. 16675710 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE New insights into the pathogenesis of JAK2 V617F-positive myeloproliferative disorders and consequences for the management of patients. 16810610 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The main conclusion is that JAK2 V617F is a 100% specific clue to a new distinct clonal myeloproliferative disorder. 16810614 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE A point mutation in the JAK2 gene, a member of the tyrosine kinase family, was recently identified and shown to be associated with several myeloproliferative disorders. 16825505 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE JAK2(V617F) was identified in patients previously diagnosed with a myeloproliferative disorder or acute myeloid leukemia transformed from myeloproliferative disorder, whereas a wild-type genotype was identified in patients with reactive conditions or de novo acute myeloid leukemia. 16831057 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation. 16873677 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker group BEFREE We review evidence that the pseudokinase STRAD controls the function of the tumour suppressor kinase LKB1 and that a single amino acid substitution within the pseudokinase domain of the tyrosine kinase JAK2 leads to several malignant myeloproliferative disorders. 16879967 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The acquired mutation Val617Phe in the tyrosine kinase JAK2 was recently identified in most but not all patients with classical myeloproliferative disorders. 16885051 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group LHGDN JAK2V617F mutation can occur exclusively in the erythroid lineage and be absent in granulocytes and progenitor cells in classic myeloproliferative disorders. 16886215 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The first international meeting on V617F JAK2 mutation and its relevance in Philadelphia-negative myeloproliferative disorders. 16901656 2007
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE We aimed to determine the relative sensitivity of four separate molecular assays used to detect the presence of the JAK2 V617F mutation in peripheral blood from patients with essential thrombocythaemia and related myeloproliferative disorders. 16916724 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Recently, the JAK2(V617F) mutation was found in patients with myeloproliferative disorders (MPDs), including most with polycythemia vera (PV). 16946305 2007
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The authors studied the biologic significance of the JAK2 (V617F) mutation in familial myeloproliferative disorders. 16998940 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker group BEFREE We therefore believe that the assay will contribute to early diagnosis of myeloproliferative disorders and to disease management, especially when JAK2-specific inhibitors have become available for therapeutic use. 17006961 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE A common point mutation in the JAK2 tyrosine kinase leads to constitutive hematopoietic growth factor receptor signaling and was recently described in many patients with myeloproliferative disorders (MPDs). 17013813 2007
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Detection of acquired Janus kinase 2 V617F mutation in myeloproliferative disorders by fluorescence melting curve analysis. 17022694 2006
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Correlations of JAK2-V617F mutation with clinical and laboratory findings in patients with myeloproliferative disorders. 17045648 2007
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group LHGDN Correlations of JAK2-V617F mutation with clinical and laboratory findings in patients with myeloproliferative disorders. 17045648 2007