Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.310 GeneticVariation disease BEFREE These data support a model whereby activating MLLT1 mutations early in renal development result in the development of Wilms tumour. 26635203 2015
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0023418
Disease: leukemia
leukemia 		0.100 GeneticVariation disease LHGDN Spliced MLL fusions: a novel mechanism to generate functional chimeric MLL-MLLT1 transcripts in t(11;19)(q23;p13.3) leukemia. 17252016 2007
CUI: C0023418
Disease: leukemia
leukemia 		0.100 GeneticVariation disease BEFREE The predicted MLLT3 protein demonstrated a significant homology to that of the MLLT1 gene at 19p13 involved in t(11;19) leukemia. 8414510 1993
CUI: C0023418
Disease: leukemia
leukemia 		0.100 GeneticVariation disease BEFREE However, Flt3 is not required for immortalization of bone marrow cells in vitro by MLL-ENL and does not affect colony formation by MLL-ENL LSCs in vitro, suggesting that in vitro models do not reflect the in vivo biology of MLL-ENL leukemia with respect to Flt3 requirement. 24269847 2014
CUI: C0023418
Disease: leukemia
leukemia 		0.100 GeneticVariation disease LHGDN Moreover, ENL is a fusion partner for the gene product of MLL that is a common target for chromosomal translocations in human acute leukemia. 12665591 2003
CUI: C0023418
Disease: leukemia
leukemia 		0.100 GeneticVariation disease BEFREE Recently, we identified the YEATS domain of AF9 (ALL1 fused gene from chromosome 9) as a novel acetyl-lysine-binding module and showed that the ENL (eleven-nineteen leukemia) YEATS domain is an essential acetyl-histone reader in acute myeloid leukemias. 29437725 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease BEFREE Our results indicate that MLLT1 and AFDN account for the majority (63%) of KMT2A gene partners in pediatric/young adult T-ALL/LBL, while no KMT2A/AFF1 or KMT2A/MLLT3 fusions were observed despite their common identification in B-ALL and acute myeloid leukemia, respectively. 30203571 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease BEFREE In summary, this is a pediatric case of AML presenting a novel complex t(11;16;19) variant with overexpression of ELL and MLLT1. 30974445 2019
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.100 GeneticVariation disease BEFREE However, Flt3 is not required for immortalization of bone marrow cells in vitro by MLL-ENL and does not affect colony formation by MLL-ENL LSCs in vitro, suggesting that in vitro models do not reflect the in vivo biology of MLL-ENL leukemia with respect to Flt3 requirement. 24269847 2014
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.100 GeneticVariation disease BEFREE The leukemia-associated gene Mllt1/ENL: characterization of a murine homolog and demonstration of an essential role in embryonic development. 12367585 2003
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.100 GeneticVariation disease BEFREE Recently, we identified the YEATS domain of AF9 (ALL1 fused gene from chromosome 9) as a novel acetyl-lysine-binding module and showed that the ENL (eleven-nineteen leukemia) YEATS domain is an essential acetyl-histone reader in acute myeloid leukemias. 29437725 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.100 GeneticVariation disease BEFREE The predicted MLLT3 protein demonstrated a significant homology to that of the MLLT1 gene at 19p13 involved in t(11;19) leukemia. 8414510 1993
CUI: C1854114
Disease: Short nose
Short nose 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		0.100 GeneticVariation phenotype CLINVAR
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.100 GeneticVariation disease CLINVAR
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		0.100 GeneticVariation disease BEFREE Consistent with earlier purifications of ENL and AF4 from 293 cells, the 90 amino acid C-terminal domain of AF9 associates with many other MLL translocation partners including Enl, Af4, Laf4, Af5q31, Ell, and Af10. 20854876 2011
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.060 GeneticVariation disease BEFREE Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11) (p12;p13.3;q23). 20113834 2010
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.060 GeneticVariation disease BEFREE Analysis of acute leukemias with MLL/ENL fusion transcripts: identification of two novel breakpoints in ENL. 17145626 2007
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.060 GeneticVariation disease BEFREE We therefore used reverse transcriptase-polymerase chain reaction (RT-PCR) assays to analyze 26 cases of childhood acute leukemia containing t(11;19) to determine the frequencies of ENL and ELL involvement. 8639852 1996