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: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Rearrangements in MLL (MLL-r) are common within very young children with leukemia and affect the prognosis and treatment. 21444110 2011
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE There is an urgent need for the development of less toxic, more selective and targeted therapies for infants with leukemia characterized by translocation of the mixed lineage leukemia (MLL) gene. 27317766 2016
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE This view is challenged by a recent observation in a case of leukemia with a complex translocation that results in MLL being fused in-frame to two different partner genes. 10700861 2000
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Harnessing the hidden antitumor power of the MLL-AF4 oncogene to fight leukemia. 24735921 2014
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE MLL rearrangements occurring in leukemia include MLL fusion genes, partial tandem duplications of MLL and MLL amplification. 15464450 2004
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Compared with acute lymphoblastic leukemia (ALL) in older children, ALL in infants has a dismal outcome because rearrangements of the mixed-lineage leukemia (MLL) gene occur in about 80% of these patients, leading to an aggressive type of leukemia. 20425430 2009
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Insights from clinical studies into the role of the MLL gene in infant and childhood leukemia. 17905612 2008
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Since the identification of the MLL gene two decades ago, a substantial amount of information has been obtained regarding the mechanisms by which MLL mutations cause leukemia. 25773519 2015
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Thus far 36 leukemia cell lines carrying the 11q23 translocation and MLL rearrangements, including two cell lines with t(6;11)(q27;q23) and an MLL-AF6 fusion gene have been described. 15951289 2005
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE The Eleven Lysine-rich Leukemia (ELL) gene undergoes translocation and fuses in frame to the Multiple Lineage Leukemia (MLL) gene in a substantial proportion of patients suffering from acute forms of leukemia. 12773566 2003
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE The inactivating NQO1 polymorphism is associated with an increased risk of de novo leukemia with MLL translocations in infants and children. 12393620 2002
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Identifying translocations of the MLL gene at chromosome band 11q23 is important for the characterization and treatment of leukemia. 10920186 2000
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Rapid and accurate methods to identify and characterize genomic breakpoint junctions and fusion transcripts resulting from the many types of MLL rearrangements are essential for risk group stratification, treatment protocol assignments, new partner gene discovery, understanding leukemia etiology and pathogenesis, and elucidating the impact of less common MLL-partner genes on biology and prognosis. 19277575 2009
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE None of the high-risk features predictive of poor treatment outcome in childhood ALL, such as older age, high white blood cell (WBC) count, organomegaly, T-lineage immunophenotype, ability of leukemic cells to cause overt leukemia in severe combined immunodeficient (SCID) mice, presence of MLL-AF4, and BCR-ABL fusion transcripts were associated with high levels of BCL-2 expression. 9160683 1997
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Only one of the four cases with MLL rearrangement showed features typical of leukemia with 11q23 aberration; other cases were indistinguishable from those without MLL rearrangement. 8616778 1996
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE The MLL/MEN fusion was consistent in all three cases of the t(11;19)(q23;p13.1)-carrying leukemia examined by RNA-based polymerase chain reaction. 7718874 1995
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Context, Context, Context: New Gene Programs Linked to Bad Behavior in MLL-AF9-Initiated Leukemia. 27411579 2016
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE A strong DNase I hypersensitive site (HS) also mapped near exon 9 in four leukemia cell lines, including two in which MLL was rearranged [a t(6;11) and a t(9;11)], and in two lymphoblastoid cell lines with normal MLL. 9808573 1998
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Including the three cases described in this report, we identified a total of 38 cases of leukemia with MLL-AF10 fusion. 11187895 2000
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE AF10 is a transcription factor that has been implicated in the development of leukemia following chromosomal rearrangements between the AF10 gene and one of at least two other genes, MLL and CALM. 23284727 2012
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Two major rearrangements of the MLL gene are found in MLL-related leukemia. 23054645 2012
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Translocations of the MLL gene at chromosome band 11q23 are the most common cytogenetic alterations in de novo leukemia in infants and in leukemia related to chemotherapy with DNA topoisomerase II inhibitors. 9523205 1998
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE The common theme in these leukemia-associated genetic rearrangements is the genetic disruption of the MLL gene. 25740345 2015
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE From our data we conclude that the scaffold protein 14-3-3θ enhances the aberrant activity of the chimeric transcription factor MLL-AF4 and, therefore, represents a new player in the molecular pathogenesis of t(4;11)-positive leukemia and a new promising therapeutic target. 31493143 2019
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE The accumulating data on acute myeloblastic leukemia demonstrate that the 5'-MLL insertion in an X-chromosome is a rare but recurrent abnormality associated with leukemia, not only in infants, but also in adults. 15721643 2005