Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation phenotype CLINVAR
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: 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: C2826025
Disease: Mixed phenotype acute leukemia
Mixed phenotype acute leukemia 		0.010 GeneticVariation disease BEFREE Mixed phenotype acute leukemia with t(11;19)(q23;p13.3)/ MLL-MLLT1(ENL), B/T-lymphoid type: A first case report. 20513125 2010
CUI: C0023418
Disease: leukemia
leukemia 		0.100 Biomarker disease BEFREE ENL, the gene fused with HRX in t(11;19) leukemias, encodes a nuclear protein with transcriptional activation potential in lymphoid and myeloid cells. 8080983 1994
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.310 Biomarker disease CTD_human A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor. 28825729 2017
CUI: C2930471
Disease: Bilateral Wilms Tumor
Bilateral Wilms Tumor 		0.300 Biomarker disease CTD_human A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor. 28825729 2017
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.010 AlteredExpression disease BEFREE Additionally, this report provides the first conclusive evidence of an MLL/ENL gene fusion characterized at a molecular level in a patient with T-cell ALL. 8527389 1995
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.060 Biomarker disease BEFREE All 17 cases of acute lymphoblastic leukemia (ALL) had MLL/ENL fusion transcripts. 8639852 1996
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.030 Biomarker disease BEFREE All 17 cases of acute lymphoblastic leukemia (ALL) had MLL/ENL fusion transcripts. 8639852 1996
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.030 Biomarker disease BEFREE All 17 cases of acute lymphoblastic leukemia (ALL) had MLL/ENL fusion transcripts. 8639852 1996
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.020 Biomarker phenotype BEFREE Although a chimeric mRNA of KOPN-1 type was rare, its presence suggested that the shared C-terminal portion of 189 amino acids of LTG19 contains important signal(s) for malignant transformation. 8378076 1993
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: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		0.100 Biomarker disease BEFREE And, although Nup98-HOXA9, MEIS1-HOXA9, and E2A-Hlf could transform ME-deficient cells, both MLL-AF9 and MLL-ENL were ineffective, indicating that the ME requirement is specific to MLL fusion leukemia. 24021671 2013
CUI: C0023418
Disease: leukemia
leukemia 		0.100 Biomarker disease BEFREE And, although Nup98-HOXA9, MEIS1-HOXA9, and E2A-Hlf could transform ME-deficient cells, both MLL-AF9 and MLL-ENL were ineffective, indicating that the ME requirement is specific to MLL fusion leukemia. 24021671 2013
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.100 Biomarker disease BEFREE And, although Nup98-HOXA9, MEIS1-HOXA9, and E2A-Hlf could transform ME-deficient cells, both MLL-AF9 and MLL-ENL were ineffective, indicating that the ME requirement is specific to MLL fusion leukemia. 24021671 2013
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA 		0.100 Biomarker disease BEFREE Chromatin immunoprecipitation assays demonstrated that EZH2 was highly enriched around the transcription-start-site of p16, together with H3K27 methylation marks in MLL/ENL and Hoxa9/Meis1 transduced cells but not in E2A/HLF transduced cells. 24612037 2014
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual 		0.010 GeneticVariation phenotype BEFREE Clinical outcome and monitoring of minimal residual disease in patients with acute lymphoblastic leukemia expressing the MLL/ENL fusion gene. 21953510 2011
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: C0023418
Disease: leukemia
leukemia 		0.100 Biomarker disease BEFREE CRISPR-Cas9-induced t(11;19)/MLL-ENL translocations initiate leukemia in human hematopoietic progenitor cells <i>in vivo</i>. 28572162 2017
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.100 Biomarker disease BEFREE CRISPR-Cas9-induced t(11;19)/MLL-ENL translocations initiate leukemia in human hematopoietic progenitor cells <i>in vivo</i>. 28572162 2017