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: C0085669
Disease: Acute leukemia
Acute leukemia
0.060 Biomarker disease BEFREE RUNX1-EVI1 induces dysplastic hematopoiesis and acute leukemia of the megakaryocytic lineage in mice. 30278283 2018
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.060 GeneticVariation disease BEFREE Seven patients developed acute leukemia [one acute myeloid leukemia (AML), four T cell acute lymphoblastic leukemia (T-ALL), and two primary T-ALL with secondary AML associated with a dominant clone with vector integration at the LMO2 (six T-ALL), MDS1 (two AML), or MN1 (one AML) locus]. 24622513 2014
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.060 GeneticVariation disease BEFREE Collaboration between AML1-D171N and Evi1 was confirmed by a BMT model where coexpression of AML1-D171N and Evi1 induced acute leukemia of the same phenotype with much shorter latencies. 18192504 2008
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.060 GeneticVariation disease BEFREE Translocations involving the EVI1/MDS1 gene at 3q26 and the TEL gene at 12p13 are comparatively common in acute leukemia, but a translocation between the two genes has been reported only in a handful of cases. 12555218 2003
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.060 AlteredExpression disease BEFREE In some acute leukaemias, activation of EVI-1 transcription is associated with translocations involving 3q26, the site of the EVI-1 gene. 8932329 1996
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.060 AlteredExpression disease BEFREE Because of this association, we examined expression of EVI1 using RNA polymerase chain reaction (PCR) in patients with myelodysplastic syndromes (MDS) and acute leukemia with and without 3q26 translocations. 8049440 1994