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: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.350 Biomarker group CTD_human MECOM, HBS1L-MYB, THRB-RARB, JAK2, and TERT polymorphisms defining the genetic predisposition to myeloproliferative neoplasms: A study on 939 patients. 29047144 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.350 AlteredExpression group BEFREE 3q26.2/EVI1 rearrangements resulting in EVI1 overexpression play an important role in leukemogenesis and are associated with treatment resistance and a poorer prognosis in patients with acute myeloid leukemia, myelodysplastic syndrome, chronic myeloid leukemia and BCR-ABL negative myeloproliferative neoplasms. 29288910 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.350 GeneticVariation group BEFREE However, the clinical importance of 3q26.2/EVI1 rearrangement in classical Philadelphia chromosome-negative myeloproliferative neoplasms is unknown. 28338652 2017
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.350 GeneticVariation group BEFREE Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms. 25849990 2015
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.350 AlteredExpression group BEFREE Increased EVI-1 gene expression has been detected in a number of myeloproliferative disorders including MDS, AML, blast crisis of CML, and more recently in the peripheral blood of some JMML patients. 9447818 1997
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.350 GeneticVariation group BEFREE Fusion of ETV6 to MDS1/EVI1 as a result of t(3;12)(q26;p13) in myeloproliferative disorders. 9044825 1997