Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE The combination of NPM1, DNMT3A, and IDH1/2 mutations leads to inferior overall survival in AML. 31145495 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE Somatic DNMT3A mutations at R882 are frequently observed in AML patients including the very abundant R882H, but also R882C, R882P and R882S. 31620784 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 Biomarker disease BEFREE Here, we develop independently regulatable mutations in DNA methyltransferase 3A (Dnmt3a) and nucleophosmin 1 (Npm1), observed in human CH and AML, respectively. 30692594 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE In addition, DNMT3A R882 mutations were associated with an inferior response to induction therapy with aclarubicin in Chinese AML patients. 31291961 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE A 22-year-old male was diagnosed with acute monocytic leukemia with FLT3-ITD and DNMT3A mutations and pulmonary infection. 29843647 2018
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE The DNA methyltransferase DNMT3A R882H mutation is observed in 25% of all AML patients. 30185810 2018
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE Dominating the Negative: How DNMT3A Mutations Contribute to AML Pathogenesis. 28061354 2017
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE We detected the mutations in DNMT3A exon 23 by polymerase chain reaction and direct sequencing in 342 children with AML (0-16 years old) from January 2005 to June 2013, treated on BCH-2003 AML protocol. 28767575 2017
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 Biomarker disease BEFREE CpG Island Hypermethylation Mediated by DNMT3A Is a Consequence of AML Progression. 28215704 2017
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE In summary, the present cohort study demonstrated that FLT3-ITD and DNMT3A R882 double mutation predicts poor prognosis in Chinese AML patients receiving chemotherapy or allo-HSCT treatment. 28616699 2017
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE Evaluation of DNMT3A genetic polymorphisms as outcome predictors in AML patients. 27528035 2016
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE DNMT3A R882 Mutations Predict a Poor Prognosis in AML: A Meta-Analysis From 4474 Patients. 27149454 2016
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE In multivariate analyses including a comprehensive set of molecular and clinical variables, we identified DNMT3A and RUNX1 mutations as important predictors of shorter overall survival (OS) in AML patients <60 years, and particularly in those with intermediate-risk cytogenetics. 27288520 2016
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE DNMT3A mutations are associated with FLT3 ITD mutations but do not affect clinical outcome significantly in Korean NK AML patients. 25650308 2015
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE Persistence of DNMT3A mutations at long-term remission in adult patients with AML. 25371149 2014
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE We show that GATA2(low) AML lack the prototypical R882 mutation in DNMT3A frequently observed in NK-AML patients and that The Cancer Genome Atlas AML specimens with DNMT3A R882 mutations are characterized by CpG hypomethylation of GATA2. 24514424 2014
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers. 24656771 2014
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 Biomarker disease BEFREE DNMT3A mutation is a poor prognosis biomarker in AML: results of a meta-analysis of 4500 AML patients. 23962568 2013
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE Clinical impact of DNMT3A mutations in younger adult patients with acute myeloid leukemia: results of the AML Study Group (AMLSG). 23632886 2013
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 Biomarker disease CTD_human Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. 21399634 2011
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE This study shows that DNMT3A mutations have no impact on outcome but could be a predictive factor for response to idarubicin and thus, could have a direct influence in the way AML patients should be managed. 22081665 2011
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.400 GeneticVariation disease BEFREE Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. 21399634 2011