MECOM, MDS1 and EVI1 complex locus, 2122

N. diseases: 191; N. variants: 57
Disease: Congenital amegakaryocytic thrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		0.010 Biomarker disease BEFREE Heterozygous mutations in <i>MECOM</i> (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. 29540340 2018