DGCR8, DGCR8 microprocessor complex subunit, 54487

N. diseases: 101; N. variants: 8
Disease: Shprintzen syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.310 Biomarker disease BEFREE The expression profile of Dgcr8 in developing mouse embryos is consistent with the clinical phenotypes including congenital heart defects and palate clefts associated with DiGeorge syndrome (DGS)/conotruncal anomaly face syndrome (CAFS)/velocardiofacial syndrome (VCFS), which are caused by monoallelic microdeletion of chromosome 22q11.2. 12705904 2003
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.310 Biomarker disease CTD_human