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: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GermlineCausalMutation ORPHANET The Greig cephalopolysyndactyly syndrome. 18435847

2008
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GermlineCausalMutation ORPHANET Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. 12794692

2003
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GermlineCausalMutation ORPHANET Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 10441342

1999
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		0.700 GermlineCausalMutation ORPHANET Nosology and classification of genetic skeletal disorders: 2015 revision. 26394607

2015
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		0.620 GermlineCausalMutation ORPHANET Nosology and classification of genetic skeletal disorders: 2015 revision. 26394607

2015
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		0.620 GermlineCausalMutation ORPHANET A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet. 22428873

2012
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C1868120
Disease: POSTAXIAL POLYDACTYLY, TYPE B
POSTAXIAL POLYDACTYLY, TYPE B 		0.500 GermlineCausalMutation ORPHANET Nosology and classification of genetic skeletal disorders: 2015 revision. 26394607

2015
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C1868120
Disease: POSTAXIAL POLYDACTYLY, TYPE B
POSTAXIAL POLYDACTYLY, TYPE B 		0.500 GermlineCausalMutation ORPHANET Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. 18000979

2007
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
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265633
Disease: Congenital absence of tibia
Congenital absence of tibia 		0.310 GermlineCausalMutation ORPHANET Here we describe an ~5 kb deletion within the SHH repressor GLI3 in two patients with bilateral tibial hemimelia. 26791356

2016
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265553
Disease: Polysyndactyly
Polysyndactyly 		0.310 GermlineCausalMutation ORPHANET Nosology and classification of genetic skeletal disorders: 2015 revision. 26394607

2015
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C2931760
Disease: Acrocallosal syndrome, Schinzel type
Acrocallosal syndrome, Schinzel type 		0.300 GermlineCausalMutation ORPHANET A de novo GLI3 mutation in a patient with acrocallosal syndrome. 23633388

2013
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C2931760
Disease: Acrocallosal syndrome, Schinzel type
Acrocallosal syndrome, Schinzel type 		0.300 GermlineCausalMutation ORPHANET De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. 12414818

2002