MECOM, MDS1 and EVI1 complex locus, 2122

N. diseases: 191; N. variants: 57
Disease: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854273
Disease: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 		0.510 Biomarker disease GENOMICS_ENGLAND These functional assays suggest that transcriptional dysregulation by mutant EVI1 could be associated with the development of RUSAT. 26581901 2015
CUI: C1854273
Disease: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 		0.510 GermlineCausalMutation disease ORPHANET These functional assays suggest that transcriptional dysregulation by mutant EVI1 could be associated with the development of RUSAT. 26581901 2015
CUI: C1854273
Disease: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 		0.510 GeneticVariation disease BEFREE These functional assays suggest that transcriptional dysregulation by mutant EVI1 could be associated with the development of RUSAT. 26581901 2015