MECOM, MDS1 and EVI1 complex locus, 2122

N. diseases: 191; N. variants: 57
Disease: Agenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 Biomarker disease BEFREE We also found mutations in genes seldom reported in inherited BMF (IBMF), such as <i>SAMD9</i> and <i>SAMD9L</i> (N = 16 of the 86 patients, 18.6%), <i>MECOM/EVI1</i> (N = 6, 7.0%), and <i>ERCC6L2</i> (N = 7, 8.1%), each of which was associated with a distinct natural history; <i>SAMD9</i> and <i>SAMD9L</i> patients often experienced transient aplasia and monosomy 7, whereas <i>MECOM</i> patients presented early-onset severe aplastic anemia, and <i>ERCC6L2</i> patients, mild pancytopenia with myelodysplasia. 29146883 2018