Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.320 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
0.320 GeneticVariation disease BEFREE EZH2 mutational status predicts poor survival in myelofibrosis. 21921040 2012
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.320 Biomarker disease CTD_human Screening of a total of 614 individuals with myeloid disorders revealed 49 monoallelic or biallelic EZH2 mutations in 42 individuals; the mutations were found most commonly in those with myelodysplastic/myeloproliferative neoplasms (27 out of 219 individuals, or 12%) and in those with myelofibrosis (4 out of 30 individuals, or 13%). 20601953 2010