Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Myelodysplastic-Myeloproliferative Diseases
0.310 GeneticVariation group BEFREE To gain more insight into EZH2 pathology, we sought to genetically characterize a cohort of 41 EZH2-mutated MDS/MPN patients using targeted deep next-generation sequencing (NGS), colony-forming progenitor assays and transcriptome analysis. 28626218 2017
Myelodysplastic-Myeloproliferative Diseases
0.310 Biomarker group 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