MVD, mevalonate diphosphate decarboxylase, 4597

N. diseases: 101; N. variants: 11
Disease: Thrombocythemia, Essential ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.020 Biomarker disease BEFREE Therefore, the presence of JAK2V617F strongly suggests an underlying MPD and it is therefore reasonable to consider JAK2V617F-based laboratory tests for the evaluation of polycythemia, primary thrombocytosis, unexplained leukocytosis, bone marrow fibrosis, or abdominal vein thrombosis. 17124067 2006
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.020 GeneticVariation disease BEFREE The JAK2 mutation was detected in 25 patients (46%); 12 of 26 patients with essential thrombocythemia (ET), 9 of 12 patients with polycyhtemia vera (PV), one of 7 patients with chronic idiopathic myelofibrosis (CIM) and one patient with unclassifiable MPD. 17249502 2006