MECOM, MDS1 and EVI1 complex locus, 2122

N. diseases: 191; N. variants: 57
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 Biomarker disease BEFREE Leukemia fusion gene analysis demonstrated positive EVI1 and negative IgH and TCR gene rearrangement. 30608452 2019
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE MDS1/EVI1 enhances TGF-beta1 signaling and strengthens its growth-inhibitory effect but the leukemia-associated fusion protein AML1/MDS1/EVI1, product of the t(3;21), abrogates growth-inhibition in response to TGF-beta1. 10086725 1999
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE EVI-1 (ecotropic virus integration site-1) was at first identified as an integration site of the murine leukemia retrovirus in murine myeloid leukemias. 10867128 2000
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 AlteredExpression disease BEFREE EVI1 expression associated with a 3q26 anomaly in a leukemia cell line derived from the blast crisis of chronic myeloid leukemia. 7808006 1994
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE Evi-1 is a transforming gene originally identified in a common integration site of murine leukemia retrovirus and mapped in human chromosome 3q26. 8656673 1996
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE A single oncogenic enhancer rearrangement causes concomitant EVI1 and GATA2 deregulation in leukemia. 24703711 2014
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE Although it is unlikely that the Rb gene is directly involved in this translocation, the loss of the Rb gene product combined with the activation of the EVI1 gene may have led to the development of leukemia. 8813093 1996
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 AlteredExpression disease BEFREE As EVI1 overexpression alone is not sufficient to induce leukemia, loss of a 7q tumour suppressor gene might be a required cooperating event. 20084277 2010
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE Characterization of the RUNX1-PRDM16 fusion protein and comparison with the RUNX1-MDS1/EVI1 protein will facilitate the understanding of the mechanisms underlying RUNX1-associated leukemia. 16015645 2005
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 AlteredExpression disease BEFREE Experimental overexpression of EVI1 by itself was insufficient to cause leukemia in animal model systems, but it cooperated with other genes in this process. 17507183 2007
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 AlteredExpression disease BEFREE Forced expression of the leukemia-associated gene EVI1 in ES cells: a model for myeloid leukemia with 3q26 rearrangements. 10557037 1999
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE Genomic dark matter sheds light on EVI1-driven leukemia. 24735919 2014
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE Here, we review the current understanding of the role of Evi1 in controlling the development of leukemia and highlight potential modalities for targeting factors involved in Evi1-regulated signaling. 21795762 2011
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 AlteredExpression disease BEFREE High EVI1 expression was detected mainly in myelomonocytic-lineage (designated as e-M4/M5 subtype) leukemia with MLL rearrangements and in megakaryocytic-lineage (designated as e-M7 subtype) leukemia, and its prognostic association was observed in the e-M4/M5 subtype but not in the e-M7 subtype. 25567132 2015
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 AlteredExpression disease BEFREE Histone deacetyltransferase could be a target in molecular therapy of RUNX1-EVI1-expressing leukemia. 19016745 2008
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 AlteredExpression disease BEFREE However, aberrantly high expression of EVI1 has potent oncogenic properties and confers poor prognosis and chemo-resistance in leukemia and solid tumors. 29939287 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 AlteredExpression disease BEFREE In contrast, EVI-1 is barely expressed in normal hematopoietic cells, but it is overexpressed in chronic myelocytic leukemia in blastic crisis and myelodysplastic syndrome-derived leukemia. 15156182 2004
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE In this paper, we have analyzed chromosomal rearrangements in two leukemia cell lines derived from CML-BC with inv(3)(q21q26) and have identified the breakpoints within the EVI1 coding area. 9192861 1997
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE In this review, the clinical implications of expression of the GATA family, SCL, and EVI1 gene in various types of human leukemia are discussed. 9031072 1996
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 AlteredExpression disease BEFREE Our results suggest that the leukemogenic role of EVI1 expression may differ between post-MDS AML and leukemia, with EVI1 expression associated with a 3q26 abnormality. 7780155 1995
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 AlteredExpression disease BEFREE Overexpression of EVI-1 also occurs with high frequency in leukemia patients without 3q26 abnormalities, and importantly, high EVI-1 expression is an independent negative prognostic indicator irrespective of the presence of 3q26 rearrangements. 19385966 2009
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE Specific gene activation (N-myc, evi-1) or fusion genes such as the alpha retinoic acid receptor (alpha RAR) and pml have been identified as the specific cause of some cases of leukemia. 1434816 1992
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE Steady-state evi-1 transcripts were detected in UCSD/AML1 and murine leukemia M1 cells, but were not present in HL60 or Namalwa human leukemia cells. 1593910 1992
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 GeneticVariation disease BEFREE The AML1-EVI-1 fusion transcript was consistent in all three cases of the t(3;21)-carrying leukemia examined by RNA-based PCR. 8313895 1994
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE The functions of EVI1/MEL1 members as transcription factors and the concept of EVI1-positive leukemia as a stem cell disease are also reviewed. 17483069 2007