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 GeneticVariation disease BEFREE The human PRDI-BF1 or BLIMP1 gene and its mouse homolog Blimp1 are members of the recently realized PR domain family that includes the retinoblastoma interacting zinc finger gene RIZ and the MDS1-EVI1 leukemia cancer gene. 8921366 1996
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE These findings provide a foundation for future study of potential therapeutic gene targets for EVI1-induced leukemia. 23826213 2013
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 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 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 To further define potential roles for EVI-1 in leukemia pathogenesis, we studied its regulation in acute promyelocytic leukemias (APL). 9009083 1997
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE These studies clearly indicate an essential role of PR-domain protein ME in MFP leukemia, suggesting that ME may be a novel target for therapeutic intervention for this group of leukemias. 24021671 2013
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 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 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 These data indicate that expression of the EVI1 gene is involved in progression of megakaryocytic differentiation and, thus, the dysmegakaryocytopoiesis in 3q21q26 syndrome could be partly due to an enhanced differentiation capacity of leukemia cells and/or megakaryocytes by constitutive expression of the EVI1 gene. 11922610 2002
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 These results are important in view of the fact that EVI1 and MDS1 are involved in leukemia associated with chromosomal translocation breakpoints in the region between these genes. 8643684 1996
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.100 Biomarker disease BEFREE Thus, AML1/Evi-1 may contribute to leukemogenesis by specifically blocking growth-inhibitory signaling of TGF-beta in the t(3;21) leukemia. 9834202 1998