Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 Biomarker disease MGD
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease 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
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE Essential thrombocythemia (ET) is rare in children, and little or no information is available about clonality or JAK2 mutations. 16849644 2006
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 Biomarker disease LHGDN JAK2 V617F mutation analysis in different myeloid lineages (granulocytes, platelets, CFU-MK, BFU-E and CFU-GM) in essential thrombocythemia patients. 16888614 2006
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE JAK2(V617F), a mutant of tyrosine kinase JAK2, is found in most patients with polycythemia vera (PV) and a substantial proportion of patients with idiopathic myelofibrosis or essential thrombocythemia. 17178722 2007
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 Biomarker disease LHGDN JAK2 617V>F homozygosity associated with more frequent evolution into secondary myelofibrosis in both PV and ET. 17379742 2007
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 Biomarker disease BEFREE JAK2 617V>F homozygosity associated with more frequent evolution into secondary myelofibrosis in both PV and ET. 17379742 2007
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE JAK2(V617F) positive early stage myeloproliferative disease (essential thrombocythemia) as the cause of portal vein thrombosis in two middle-aged women: therapeutic implications in view of the literature. 17687555 2007
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease LHGDN JAK2 V617F, hemostatic polymorphisms, and clinical features as risk factors for arterial thrombotic events in essential thrombocythemia. 18365193 2008
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE JAK2 DNA mutational analysis was done on diagnostic bone marrow samples obtained from 88 patients with Down's syndrome-associated acute lymphoblastic leukaemia; and 216 patients with sporadic acute lymphoblastic leukaemia, Down's syndrome-associated acute megakaryoblastic leukaemia, and essential thrombocythaemia. 18805579 2008
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE JAK2 mutational status assessment was valuable to distinguish two populations of patients with ET, showing distinctive hematologic and clinical features. 19235016 2009
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE JAK2 V617F-positive latent essential thrombocythemia and splanchnic vein thrombosis: the role of bone marrow biopsy for the diagnosis of myeloproliferative disease. 19478480 2009
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE JAK2 (V617F)-positive ET may evolve in few instances into JAK2-negative leukemia. 19691103 2009
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE JAK2(V617F) mutation has been recognized as a possible thrombotic risk factor in essential thrombocythaemia (ET). 20104275 2010
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE JAK2 V617F-positive essential thrombocythemia in a patient with Klinefelter syndrome: a case report. 20362232 2010
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE JAK2 and MPL mutations appear to exert a phenotype-modifying effect and are distinctly associated with polycythemia vera, essential thrombocythemia and primary myelofibrosis; the corresponding mutational frequencies are approximately 99, 55 and 65% for JAK2 and 0, 3 and 10% for MPL mutations. 20428194 2010
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE JAK2 V617F mutation was found in 51 of 75 cases (68%) of CMPD, 82 per cent in PV, 70 per cent in ET and 52 per cent of IMF. 20966521 2010
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 Biomarker disease BEFREE JAK2 inhibition in polycythemia vera (PV) and essential thrombocythemia (ET) for this class of agents appears promising to reduce myeloproliferations, symptoms, and perhaps prevent thrombohemorrhagic events. 21599574 2011
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE JAK2 exon 12 mutations were detected in 40.0% JAK2V617F-negative suspected polycythemia vera, MPLW515 mutations in 13.2%JAK2V617F-negative primary myelofibrosis and 7.1% JAK2V617F-negative essential thrombocythemia. 22511494 2012
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE JAK2 V617F positive essential thrombocythemia developing in a patient with CD5⁻ chronic lymphocytic leukemia. 22884083 2012
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE JAK2 and MPL mutations also occur in essential thrombocythemia (ET) and primary myelofibrosis (PMF), but their diagnostic value is limited by suboptimal sensitivity and specificity. 24441292 2014
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE Janus kinase-2 (JAK2) is mutated in a high proportion of patients with polycythemia vera and in a smaller number with essential thrombocythemia and primary myelofibrosis. 24511651 2013
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 GeneticVariation disease BEFREE JAK2 V617F mutation allele burden and miR-143 expression level resulted higher in PV and IM respect to ET patients. 25527813 2015
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 Biomarker disease BEFREE JAK2/CALR mutational status does not affect survival in ET. 25611051 2015
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.800 Biomarker disease BEFREE JAK2+ Essential Thrombocythemia in a Young Girl With Budd-Chiari Syndrome: Diagnostic and Therapeutic Considerations When Adult Disease Strikes the Young. 26523382 2016