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: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE The MLL gene is frequently rearranged in leukemias, and MLL chimeric proteins generated by chromosomal translocations play crucial roles in leukemogenesis. 11681416 2001
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 GeneticVariation disease BEFREE We conclude that concentrations of E2 and 4-OH-E2 that may occur during pregnancy, or during use of oral contraceptives, can cause aberrations of the MLL gene and could thus be a factor in the early events of leukemogenesis occurring in utero. 19264358 2009
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE MLL-fusion proteins, AF9 and ENL, play an essential role in the recruitment of DOT1L and the H3K79 hypermethylation of MLL target genes, which is pivotal for leukemogenesis. 30258537 2018
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE These findings suggest that the basis for the leukemogenesis of t(11; 22)-AML is the inability of p300 to regulate cell-cycle and cell differentiation after fusion with MLL. 9389684 1997
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE SET domain-containing proteins such as MLL1 play a critical role in leukemogenesis, while others such as SETD2 may function as a tumor suppressor in breast cancer and renal cell carcinoma. 23065515 2013
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE This insertion mechanism precludes the genomic recombination of AF4-MLL and supports the crucial role played by MLL-AF4 in leukemogenesis. 11368362 2001
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 AlteredExpression disease BEFREE Therefore, we postulate that the inability of C/EBPα and GATA-1 to down-regulate DACH1 expression induced by MLL-AF9 during myeloid differentiation may contribute to t(9;11) leukemogenesis. 22902925 2012
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 GeneticVariation disease BEFREE She provides an overview of leukemias that are common in pediatric malignancies but rarely observed in adults, including the TEL-AML1 (ETV6-RUNX1) fusion associated with pediatric B-cell ALL, the OTT-MAL fusion associated with infant megakaryoblastic leukemia, PTPN11 mutations in juvenile myelomonocytic leukemia, and MLL fusion genes in leukemogenesis, among others. 15561678 2004
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE In conclusion, the spectrum of MLL translocation partners in adult T-ALL much more resembles that of AML than that of BCP ALL and thus the mechanisms by which MLL contributes to leukemogenesis in adult T-ALL appear to differ from those in BCP ALL. 22927255 2012
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE This observation suggests that the N-terminal portion of MLL gene is critical for leukemogenesis in translocations involving band 11q23. 7833468 1995
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE The identification and validation of consistent changes of gene expression in human and murine MLL rearrangement leukemias provide important insights into the genetic base for MLL-associated leukemogenesis. 19155294 2009
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 GeneticVariation disease BEFREE Typically, the breakpoints are upstream of the zinc-finger region of MLL, and deletion of this region can accompany translocation, supporting the der(11) chromosome as the important component in leukemogenesis. 8378328 1993
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Our data suggest that only one form of MLL fusion gene is implicated in leukemogenesis in our case to t(1;11;4). 10700861 2000
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE In addition, a mouse model of MLL-AF9-driven leukemogenesis was used to study the role of Baf200 in malignant hematopoiesis. 29482581 2018
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE The role of MLL in leukemogenesis has previously been demonstrated, but its role in the development of other tumors or its significance in the chemoresistance process remains to be elucidated. 11135430 2001
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Our results show that not only MLL rearrangements, but also other molecular abnormalities occur before birth and may contribute to leukemogenesis. 16261608 2006
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 AlteredExpression disease BEFREE MLL(DNMT1 CXXC)-AF9 shows robust in vitro colony forming activity and in vivo leukemogenesis, similar to MLL-AF9. 23990460 2013
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE AF4 antibodies should be useful for further elucidation of the function of AF4 in normal cellular physiology, as well as the function of MLL-AF4 in leukemogenesis. 9808577 1998
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE DNA structural properties of AF9 are similar to MLL and could act as recombination hot spots resulting in MLL/AF9 translocations and leukemogenesis. 10861294 2000
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 AlteredExpression disease BEFREE Aberrant fusion proteins involving the MLL histone methyltransferase (HMT) lead to recruitment of DOT1L, to a multi-protein complex resulting in aberrant methylation of histone H3 lysine 79 at MLL target genes, and ultimately enhanced expression of critical genes for hematopoietic differentiation, including HOXA9 and MEIS1, and as such defines the established mechanism for leukemogenesis in MLL-rearrangement (MLL-r) leukemias. 28229434 2017
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 AlteredExpression disease BEFREE Using an in vivo gene targeting approach, we demonstrate that Rac2, but not Rac1, is critical to the initiation of acute myeloid leukemia in a retroviral expression model of MLL-AF9 leukemogenesis. 21940819 2011
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Partial duplication of ALL-1, in which a portion of a putative protooncogene is fused with itself, represents an additional genetic mechanism for leukemogenesis. 8016145 1994
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Conditional deletion of <i>Mof</i> in a mouse model of <i>MLL-AF9</i>-driven leukemogenesis reduced tumor burden and prolonged host survival. 28202522 2017
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 Biomarker disease BEFREE Our data reveal a molecular dependency on MLL1 function in NUP98-fusion-driven leukemogenesis. 27889185 2016
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.100 GeneticVariation disease BEFREE Thus, a single chromosomal rearrangement resulting in formation of the MLL-MLLT3 fusion gene and haplo-insufficiency of FLJ10374 may have cooperated to promote leukemogenesis in AML with t(9;11;19). 16450356 2006