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 		0.330 Biomarker disease BEFREE Although the UFD1L gene has been mapped in the region commonly deleted in patients with DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), correlation between its haploinsufficiency and the phenotype has not yet been established. 11574150 2001
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.330 Biomarker disease BEFREE UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes? 10390621 1999
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.330 AlteredExpression disease BEFREE UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. 9063746 1997
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.330 ChromosomalRearrangement disease ORPHANET