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: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis
0.110 GeneticVariation disease BEFREE Radioulnar synostosis and B-cell deficiency were observed only in patients with mutations affecting a short region in the C-terminal zinc finger domain of EVI1. 29540340 2018
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis
0.110 Biomarker disease HPO