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 		0.320 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: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.320 GeneticVariation disease BEFREE We describe here a new gene called NLVCF, which maps to the critical region for VCFS on 22q11 between the genes HIRA and UFD1L. 9790763 1998
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.320 ChromosomalRearrangement disease ORPHANET