Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.350 GeneticVariation disease BEFREE Additionally, chromatin modification genes (ASXL1 and EZH2) were frequently mutated in PMF patients (0·50) and, to a significantly lesser extent, in ET (0·13) and PV (0·07). 27447873 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.350 GeneticVariation disease BEFREE Elevated expression of the EZH2 gene in CALR-mutated patients with primary myelofibrosis. 29560522 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.350 GeneticVariation disease BEFREE We conclude that EZH2 mutations are independently associated with shorter survival in patients with PMF. 21921040 2011
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.350 GeneticVariation disease BEFREE EZH2 mutations correlate with aberrant erythropoiesis in PMF patients, exemplified by impaired maturation and cell cycle arrest of erythroid progenitors. 29907810 2019
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.350 Biomarker disease BEFREE Bone marrow fibrosis and mutations in ASXL1, SRSF2, EZH2, and IDH1/2 have been found to be additional prognostic factors in primary myelofibrosis (PMF). 28948488 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.350 Biomarker disease CTD_human Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. 20601953 2010