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: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 GeneticVariation disease BEFREE The amplification was presented as: amplification including only the 5' segment of the MLL gene (1 patient), trisomy 11 (3 patients), partial trisomy 11q (2 patients), isochromosome 11q (1 patient), and multiple amplification of specific regions (3 patients). 20471515 2010
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 GeneticVariation disease BEFREE MLL rearrangements are usually evident as overt balanced chromosomal translocations by conventional cytogenetic analysis but up to one-third are cryptic rearrangements and occur in leukemias with del(11)(q23), a normal karyotype, or trisomy 11, the latter two of which sometimes are associated with partial tandem duplications of MLL itself (Proc Natl Acad Sci USA 97:2814-2819, 2000; Proc Natl Acad Sci USA 94:3899-3902, 1997). 19277575 2009
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 Biomarker disease BEFREE Concomitant presence of MLL and FLT3 anomalies could be relevant in determining the poor outcome of patients with acute myeloid leukemia with trisomy 11. 15710585 2005
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 GeneticVariation disease BEFREE In addition to the MLL translocation, FISH detected submicroscopic amplification, partial deletion of the MLL gene and trisomy 11 in 12 patients without cytogenetic evidence. 12472570 2002
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 Biomarker disease BEFREE We investigated copy number of MLL in seven patients with trisomy 11 to see if duplication could be assessed by the detection of two separate signals on fluorescence in situ hybridization (FISH). 11566351 2001
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 GeneticVariation disease BEFREE Performing a one-step RT-PCR with 35 cycles using an exon 9 forward primer and an exon 3 reverse primer partial tandem duplications of the MLL gene were demonstrated in 3/8 (37.5%) patients with trisomy 11. 10803509 2000
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 Biomarker disease BEFREE Partial-tandem duplication (PTD) of an internal portion of MLL occurs in some cases of acute myelogenous leukemia (AML) with trisomy 11 or a normal karyotype. 9790509 1998
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 GeneticVariation disease BEFREE The partial tandem duplication of the ALL1 (MLL) gene is found in patients with AML and trisomy 11 as a sole cytogenetic abnormality and in 11% of patients with AML and normal cytogenetics. 9482895 1998
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 GeneticVariation disease BEFREE As recent studies showed that MLL gene duplication in fact occurs more often as a primary mutation in the absence of trisomy 11, it is possible that in our case the MLL gene duplication might be the common underlying mutation. 9352791 1997
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 GeneticVariation disease BEFREE Of 16 acute myeloid leukemia patients with trisomy 11 and rearrangement of MLL reported, our patient was the youngest in age and the only one with AMoL. 9209466 1997
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 GeneticVariation disease BEFREE We recently discovered that approximately 90% of adult patients with de novo AML and trisomy 11 (+11) as a sole abnormality and 11% of adult patients with de novo AML and normal cytogenetics carry a molecular rearrangement of the ALL1 (MLL, HRX, or HTRX) gene. 9108076 1997
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 GeneticVariation disease BEFREE We describe a 72-year-old woman suffering from MDS-derived overt leukemia with trisomy 11 and a tandem duplication of the MLL gene. 9136917 1997
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 Biomarker disease BEFREE Unexpectedly, MLL gene rearrangements were observed in two of four cases characterized by trisomy 11 as the sole karyotypic abnormality; however, MLL aberrations were not identified in three cases with trisomy 11 accompanied by other karyotypic anomalies. 7794746 1995
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 GeneticVariation disease BEFREE We detected molecular rearrangements of the ALL-1 gene in 3 of 4 patients with de novo AML and trisomy 11 as a sole chromosomal abnormality. 8275471 1994
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 Biomarker disease BEFREE Rearrangement of the ALL-1 genes in two of the patients with trisomy 11 was shown to result from a direct tandem duplication of a portion of the gene spanning exons 2-6. 8044771 1994
CUI: C0432409
Disease: Trisomy 11
Trisomy 11
0.100 GeneticVariation disease BEFREE To characterize the abnormal ALL-1 genes, we cloned the ALL-1 rearrangements from two patients with trisomy 11. 8016145 1994