MECOM, MDS1 and EVI1 complex locus, 2122

N. diseases: 191; N. variants: 57
Disease: Fanconi Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.020 GeneticVariation disease BEFREE We suggest that partial deletion in MECOM may be a primary event associated with congenital pancytopenia. 29496554 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.020 AlteredExpression disease BEFREE We detected overexpression of EVI1 in all three FA-derived AML. 17243162 2007