DGCR8, DGCR8 microprocessor complex subunit, 54487

N. diseases: 101; N. variants: 8
Disease: DiGeorge Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.340 GeneticVariation disease BEFREE DiGeorge syndrome chromosomal region 8 (DGCR8), a double-stranded-RNA-binding protein, participates in the miRNA biogenesis pathway and contributes to miRNA maturation by interacting with the RNAase III enzyme Drosha in cell nuclei. 29362439 2018
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.340 GeneticVariation disease BEFREE Additionally, 100 mg/L NaF significantly elevated the expression levels of miR-124, miR-132, and DiGeorge syndrome chromosomal region 8 (DGCR8) in hippocampus of mouse pups at postnatal day (PND) 21. 29334651 2018
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.340 Biomarker disease BEFREE Microprocessor contains Drosha, an RNase III endonuclease, and DGCR8, a gene deleted in DiGeorge syndrome. 15867338 2005
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.340 AlteredExpression 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: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.340 Biomarker disease CTD_human