GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Trigonocephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.120 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: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.120 Biomarker disease BEFREE To date, trigonocephaly has not been associated with abnormalities of GLI3 and craniosynostosis is not a feature of GCPS. 20583172 2010
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.120 Biomarker disease HPO