GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Scaphycephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.110 GeneticVariation disease BEFREE In all five children, the diagnosis of GCPS was confirmed by molecular analysis of GLI3 (two had intragenic mutations and three had complete gene deletions detected on array comparative genomic hybridisation), thus highlighting the importance of trigonocephaly or overt metopic or sagittal synostosis as a distinct presenting feature of GCPS. 21326280 2011
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.110 Biomarker disease HPO