GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Craniosynostosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933372
rs28933372
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0010278
Disease:
Craniosynostosis 		0.010 GeneticVariation BEFREE A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous GLI3 mutations have also been described in syndromes with overlapping clinical manifestations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, trigonocephaly with craniosynostosis and polydactyly, oral-facial-digital syndrome, and non-syndromic polydactyly. 23633388 2013