Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.080 GeneticVariation group BEFREE Therefore, atypical chromosomal aberrations and/or mechanisms are involved in MECOM rearrangement. 31109591 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.080 GeneticVariation group BEFREE In this study, we aim to explore the clinicopathological features of myelodysplastic/myeloproliferative (MDS/MPN) neoplasms with 3q26.2/EVI1 rearrangements and determine the potential impact of these cytogenetic abnormalities on treatment response and survival. 29288910 2018
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.080 Biomarker group BEFREE Besides inv(3)/t(3;3), EVI1(+) was significantly associated with chromosome abnormalities monosomy 7 and t(11q23), conferring prognostic impact within these two cytogenetic subsets. 20308656 2010
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.080 AlteredExpression group BEFREE Typically, these chromosome aberrations contribute to ectopic expression of or to the formation of fusion genes involving the EVI1 proto-oncogene. 15085164 2004
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.080 AlteredExpression group BEFREE Acute myeloid leukaemia (AML) with 3q26 cytogenetic abnormalities is associated with overexpression of EVI1, dysmegakaryopoiesis and poor prognosis. 11167805 2001
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.080 GeneticVariation group BEFREE In addition, a majority of cytogenetic abnormalities involved chromosome 3 at bands 3q21 and 3q26, which corresponds to the locus of EVI1, a gene implicated in the development or progression of human myeloid leukemias. 10484986 1999
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.080 AlteredExpression group BEFREE The Kasumi-4 cells had the following characteristic features: undifferentiated blasts which were positive from CD34, CD33 and CD13 surface markers, but negative for myeloperoxidase platelet peroxidase, CD36, CD41 and CD42; chromosome abnormalities of t(9;22;11) (q34;q11;q13), inv(3)(q21q26); and elevated expression of EVI1 gene which is located at chromosome band 3q26. 8611478 1996
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.080 AlteredExpression group BEFREE Patients with CML/BC and other nonrandom chromosome abnormalities involving chromosome 3q26 should be evaluated for EVI1 expression. 8412328 1993