SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
0.300 Biomarker disease CTD_human Refining analyses of copy number variation identifies specific genes associated with developmental delay. 25217958 2014
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
0.300 Biomarker disease CTD_human De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010