Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Using a comprehensive genomic profiling, we were able to identify recurrent chromosomal aberrations associated with MS including a rare KMT2A-ELL fusion, losses of chromosomes 1p, 9, 10, 15, 18, and gain of chromosome 1q and mutations in FLT3 and PTPN11, and achived the final diagnosis of a de novo MS. 30922345 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Our results lend further support to the observation that the KMT2A-MAML2 fusion gene resulting from inv(11)(q21q23) is likely a recurrent cytogenetic abnormality in T-t-ALL and appears to be associated with pediatric cases. 31343482 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Mixed lineage leukemia (MLL/KMT2A) rearrangements (MLL-r) are one of the most frequent chromosomal aberrations in acute myeloid leukemia. 31413090 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE All four cases demonstrated certain degrees of myelodysplasia and complex cytogenetic abnormalities with - 7/7q- and/or - 5/5q- or with 11q23 (KMT2A) rearrangement. 31371806 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE AF1q is an MLL fusion partner that was identified from acute myeloid leukemia (AML) patients with t (1; 11) (q21; q23) chromosomal abnormality. 26079538 2015
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Specific subsets of MPAL are defined by chromosomal anomalies such as the t(9;22) Philadelphia chromosome BCR-ABL1 or involvement of the MLL gene on chromosome 11q23. 22372202 2012
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Prognostic significance of additional cytogenetic aberrations in 733 de novo pediatric 11q23/MLL-rearranged AML patients: results of an international study. 21551233 2011
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Chromosome translocations involving the MLL gene on 11q23 are the most frequent chromosome abnormalities in secondary leukemias associated with chemotherapy employing etoposide, a topoisomerase II poison. 21048951 2010
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE In the second biopsy the hsr and MLL amplification appears as nonreciprocal translocation of multiple copies in the form of marked amplification of MLL on chromosome 16 in a background of increasing chromosomal aberrations. 19480936 2009
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE These chromosomal aberrations fuse the mixed-lineage leukemia (MLL) gene to one of more than 50 partners. 19852741 2009
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE In acute lymphoblastic leukemia, besides age and white cell count at diagnosis, the cytogenetic abnormalities t(9;22)/BCR-ABL and t(4;11)/MLL-AF4 are important prognostic markers and are often included in the treatment stratification of patients with adult acute lymphoblastic leukemia. 18728022 2008
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE MLL rearrangement with t(6;11)(q15;q23) as a sole abnormality in a patient with de novo acute myeloid leukemia: conventional cytogenetics, FISH, and multicolor FISH analyses for detection of rare MLL-related chromosome abnormalities. 18992643 2008
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Reciprocal chromosomal translocations involving the MLL gene at chromosome region 11q23 are recurring cytogenetic abnormalities in both de novo and therapy-related acute myeloid leukemia (AML) and in acute lymphoblastic leukemia. 17854671 2007
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Screening for the prognostically important chromosome abnormalities (TEL-AML1, BCR-ABL, E2A-PBX1, and MLL) using multiplex reverse-transcription polymerase chain reaction was performed on 299 consecutive patients with ALL at 3 study centers (236 de novo, 63 at relapse), with the ethnic composition predominantly Chinese (51.8%) and Malay (34.8%). 17230064 2007
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Patients with MLL-AF4 translocation showed high WT1 overexpression (P<0.01) compared to patients with other or no chromosomal aberrations. 16341043 2006
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Among acute myeloblastic leukemia patients, frequency peaks were found for those with MLL/11q23 rearrangements (peak: first year), Down syndrome (peak: second to third year), or cytogenetic abnormalities other than translocations t(8;21), t(15;17), and inv(16)/t(16;16) (peak: first to third year). 16912588 2006
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE We have identified a new mixed lineage leukemia (MLL) gene fusion partner in a patient with treatment-related acute myeloid leukemia (AML) presenting a t(2;11)(q37;q23) as the only cytogenetic abnormality. 16682951 2006
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Southern blot analysis indicated that a rearrangement of the MLL gene was involved in the chromosomal abnormality. cDNA panhandle polymerase chain reaction (PCR) identified the fusion transcript, in which MLL exon 6 was fused in-frame with EB1 exon 5. 15751040 2005
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE In addition, seven other B-precursor ALL cases not bearing t(9;22) or t(11q23)/MLL chromosomal aberrations were analyzed. 14603332 2004
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE An overall incidence of chromosomal anomalies, including t (9;22), MLL gene rearrangements, t (12;21), and numerical chromosomal anomalies of chromosomes 4, 10, 17 and 21 was found in 33 patients (65%). 14527352 2003
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Masked MLL gene rearrangement was disclosed in the clinical course and sequential development of chromosome abnormality in a patient with therapy related acute myelogenous leukemia. 12537982 2003
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Southern blot analysis indicated that the MLL rearrangement was involved in the chromosomal abnormality. cDNA panhandle polymerase chain reaction identified the fusion transcript, in which MLL exon 6 was fused in-frame with CBL exon 8. 12696071 2003
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Infant acute lymphoblastic leukemia (ALL) is frequently characterized by the t(4;11)(q21;q23) cytogenetic abnormality encoding the MLL/AF4 oncogene, increased HOX gene expression and a pro-B/monocytoid phenotype. 14562113 2003
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE The translocation t(9;11)(p22;q23) is a recurring chromosomal abnormality in acute myeloid leukemia (AML) fusing two genes designated as MLL and AF9. 12619163 2003
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE We report a case of secondary acute myelogenous leukemia (AML) with 11q23 cytogenetic abnormality and mixed lymphoid leukemia (MLL) gene expression in a patient treated with Y90 labeled anti-CD20 antibody (Zevalin). 12539741 2002