Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.350 GermlineCausalMutation ORPHANET Here, we describe a second patient with acrocallosal syndrome, who has a de novo, novel c.2786T>C mutation in GLI3, which predicts p.Leu929Pro. 23633388

2013
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.350 GermlineCausalMutation ORPHANET Since others have excluded GLI3 in ACS, we suggest that ACS may represent a heterogeneous group of disorders that, in some cases, may result from a mutation in GLI3 and represent a severe, allelic form of GCPS. 12414818

2002