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: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker disease HPO
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE The observed biological difference in circulating granulocyte involvement by the JAK2 V617F clone necessitates a sensitive molecular assay for the diagnostic investigation of thrombocytosis. 16916724 2006
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease LHGDN High occurrence of JAK2 V617 mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis. 16990759 2006
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease 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
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause ET, but qualitative platelet abnormalities induced by JAK2 V617F may contribute to the hemostatic complications of PV. 17183644 2006
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE MPL W515 and JAK2 V617 mutation analysis in patients with refractory anemia with ringed sideroblasts and an elevated platelet count. 17194663 2006
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Therefore, JAK2 mutation screening holds the promise of a decisive diagnostic test in PV while being complementary to histology for the diagnosis of ET and PMF; the combination of molecular testing and histologic review should also facilitate diagnosis of ET associated with borderline thrombocytosis. 17488875 2007
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease LHGDN The quantitative JAK2 V617F neutrophil allele burden does not correlate with thrombotic risk in essential thrombocytosis. 17507997 2007
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Furthermore, JAK2 mutation screening has now become a front-line diagnostic test in the evaluation of both "erythrocytosis" and thrombocytosis and the 2001 World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis have now been revised to incorporate JAK2V617F mutation screening. 18032973 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease LHGDN MPL 515 and JAK2 mutation analysis in MDS presenting with a platelet count of more than 500 x 10(9)/l. 18040685 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease LHGDN Prognostic interaction between thrombocytosis and JAK2 V617F mutation in the WHO subcategories of myelodysplastic/myeloproliferative disease-unclassifiable and refractory anemia with ringed sideroblasts and marked thrombocytosis. 18059483 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Higher levels of JAK2-V617F in mouse bone marrow by retroviral transduction caused a PV-like phenotype without thrombocytosis. 18160670 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease LHGDN In 6/11 RARS-T patients the allelic ratio of JAK2-V617F was above 50%, indicating the presence of cells homozygous for the mutation. 18166783 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE His postoperative management included the examination of his peripheral blood as well as bone marrow, which confirmed that the cause of his elevated platelet count was due to JAK2 V617F mutation that is treated by hydroxyurea and aspirin after being discharged from the hospital. 18534315 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease LHGDN JAK2 and MPL mutations in myeloproliferative neoplasms. 18566540 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker disease BEFREE JAK2 617 HP is an adequate test in differential diagnosis for both erythrocytosis and thrombocytosis. 18575865 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker disease LHGDN JAK2 617 HP is an adequate test in differential diagnosis for both erythrocytosis and thrombocytosis. 18575865 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE The two patients who developed thrombocythemia during infancy were JAK2 V617F-negative. 18802948 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker disease CTD_human JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. 19287382 2009
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker disease CTD_human A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. 19287384 2009
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE The V617F JAK2 mutation was absent within the patients with secondary erythrocytosis or thrombocytosis. 19939582 2011
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker disease BEFREE Efficacy of the JAK2 inhibitor INCB16562 in a murine model of MPLW515L-induced thrombocytosis and myelofibrosis. 20154217 2010
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. 20194893 2010
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was diagnosed to have essential thrombocythemia upon the demonstration of JAK2 V617F mutation. 20633767 2010
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE These data also support the hypothesis that level of JAK2(V617F) expression influences the MPN phenotype: higher levels favor erythrocytosis whereas lower levels favor thrombocytosis. 21242185 2011