KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease BEFREE KMT2A-MLLT10 is one of the common chimeric genes diagnosed in acute leukemia with KMT2A rearrangement (8%), especially in acute myeloid leukemia (AML; 18%). 30624859 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease BEFREE Although it is presently unclear whether these sarcomas belong to a single group, the well-established role of KMT2A fusions as drivers of acute leukaemia and a recent publication regarding identification of YAP1-KMT2A in one unclassifiable sarcoma support the significance of these fusions. 31136005 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 GeneticVariation disease BEFREE SETD2, an epigenetic tumor suppressor, is frequently mutated in MLL-rearranged (MLLr) leukemia and relapsed acute leukemia (AL). 30967619 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease BEFREE Overlap of MLL bcr sequences associated with both infant acute leukemia and therapy-related leukemia following exposure to the topoisomerase II inhibitor etoposide led to the hypothesis that exposure during pregnancy to biochemically similar compounds may promote infant acute leukemia. 30387535 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 GeneticVariation disease BEFREE Acute leukemias harboring KMT2A/MLLT10 fusion: a 10-year experience from a single genomics laboratory. 30707474 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 GeneticVariation disease BEFREE This study aimed at assessing if the cell-of-origin of t(4;11) MLL-AF4 acute leukemia is sensitive to a viral or bacterial mimic and if maternal immune activation can lead to a full-blown leukemia. 31381950 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease BEFREE Mixed lineage leukemia 1 (MLL1), an important member of histone methyltransferases (HMT) family, is closely associated with human acute leukemia. 31132972 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 GeneticVariation disease BEFREE Chromosomal rearrangements involving the mixed-lineage leukemia (MLL1) gene are common in a unique group of acute leukemias, with more than 100 fusion partners in this malignancy alone. 30548174 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 GeneticVariation disease BEFREE Acute leukemias (AL) with a Mixed Lineage Leukemia (MLL) gene rearrangement (MLLr) represent a group of leukemic entities conferring intermediate to adverse prognoses. 30446944 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease BEFREE Paediatric patients with acute leukaemia and KMT2A (MLL) rearrangement show a distinctive expression pattern of histone deacetylases. 29978456 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease BEFREE This study provides a comprehensive analysis of the MLL recombinome in acute leukemia and demonstrates that the establishment of patient-specific chromosomal fusion sites allows the design of specific PCR primers for minimal residual disease analyses for all patients. 28701730 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 AlteredExpression disease BEFREE Furthermore, compounds 1, 23 and 44 were chosen to evaluate for their antiproliferative activities on the MLL-AF4-expression acute leukemia cell line (MV4-11), other cancer cell lines (MDA-MB-231, A549, 22Rv1) and the non-cancer cell lines (HUV-EC-C, MRC5, RPTEC). 29730189 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 GeneticVariation disease BEFREE The breakpoint cluster region of the MLL gene (MLLbcr) is frequently rearranged in therapy-related and infant acute leukaemia, but the destabilizing mechanism is poorly understood. 28626219 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 GeneticVariation disease BEFREE Activating signaling mutations are common in acute leukemia with KMT2A (previously MLL) rearrangements (KMT2A-R). 29720585 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease BEFREE We demonstrate that one of the ENL YEATS-selective inhibitors, XL-13m, engages with endogenous ENL, perturbs the recruitment of ENL onto chromatin, and synergizes the BET and DOT1L inhibition-induced downregulation of oncogenes in MLL-rearranged acute leukemia. 30374167 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease BEFREE MLL gene is involved in more than 80 known genetic fusions in acute leukemia. 29384595 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease BEFREE The protein-protein interaction between menin and mixed-lineage leukemia 1 (MLL1) plays an important role in development of acute leukemia with translocations of the MLL1 gene and in solid tumors. 29738674 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 GeneticVariation disease BEFREE By contrast, MLL-translocations in acute leukemia patients are hard to treat, display a high relapse rate and the overall survival rate is still very poor. 28943239 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease BEFREE Chromosomal rearrangements of the mixed lineage leukemia (MLL/KMT2A) gene leading to oncogenic MLL-fusion proteins occur in ~10% of acute leukemias and are associated with poor clinical outcomes, emphasizing the need for new treatment modalities. 27840424 2017
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease BEFREE The mixed-lineage leukemia 1 (MLL1) gene (now renamed <i>Lysine [K]-specific MethylTransferase 2A</i> or <i>KMT2A</i>) on chromosome 11q23 is disrupted in a unique group of acute leukemias. 28232907 2017
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease BEFREE Here, using unbiased CRISPR-Cas9 technology to perform a genome-scale loss-of-function screen in an MLL-AF4-positive acute leukaemia cell line, we identify ENL as an unrecognized gene that is specifically required for proliferation in vitro and in vivo. 28241139 2017
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease BEFREE Mutations in <i>SETD2</i><i>,</i> encoding the histone 3 lysine 36 trimethyltransferase, are enriched in relapsed acute lymphoblastic leukemia and MLL-rearranged acute leukemia. 29018079 2017
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 GeneticVariation disease BEFREE PTPN11 mutation, a RAS signaling pathway mutation, is associated with MLL translocations in acute leukemia. 27859216 2017
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 GeneticVariation disease BEFREE The hallmark of the AOP is the formation of MLL gene rearrangements via topo II poisoning, leading to fusion genes and ultimately acute leukaemia by global (epi)genetic dysregulation. 28536863 2017
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.100 Biomarker disease BEFREE Its chromatin-tethering ability is linked to at least two unrelated diseases-HIV infection and MLL-rearranged acute leukemia. 27290878 2016