SON, SON DNA binding protein, 6651

N. diseases: 154; N. variants: 27
Disease: Thrombocytopenia Robin sequence ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931364
Disease: Thrombocytopenia Robin sequence
Thrombocytopenia Robin sequence 		0.010 Biomarker disease BEFREE Therefore, we suggest that the intellectual disability observed in Braddock-Carey syndrome could be accounted for by haploinsufficiency of SON. 27256762 2016