Source: CLINVAR

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 CausalMutation CLINVAR GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families. 26508445

2016
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 CausalMutation CLINVAR Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. 27231705

2016
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 CausalMutation CLINVAR Here we report on the molecular and clinical study of 76 cases from 55 families with either a GLI3 mutation (49 GCPS and 21 PHS), or a large deletion encompassing the GLI3 gene (6 GCPS cases). 24736735

2015
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 CausalMutation CLINVAR Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 20672375

2010
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation CLINVAR To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. 15739154

2005
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 CausalMutation CLINVAR To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. 15739154

2005
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation CLINVAR The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. 10441570

1999
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 CausalMutation CLINVAR Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. 27231705

2016
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 CausalMutation CLINVAR GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families. 26508445

2016
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 CausalMutation CLINVAR New insights into genotype-phenotype correlation for GLI3 mutations. 24736735

2015
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 CausalMutation CLINVAR Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 20672375

2010
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 CausalMutation CLINVAR To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. 15739154

2005
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation CLINVAR To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. 15739154

2005
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation CLINVAR We studied the involvement of GLI3 in additional phenotypes of digital abnormalities in one family (UR003) with preaxial polydactyly type-IV (PPD-IV), three families (UR014, UR015, and UR016) with dominant PAP-A/B (with PPD-A and -B in the same family), and one family with PHS. 10441570

1999
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		0.710 CausalMutation CLINVAR Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation. 28315472

2017
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		0.710 CausalMutation CLINVAR Mutation in GLI3 in postaxial polydactyly type A. 9354785

1997
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		0.700 CausalMutation CLINVAR

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		0.490 GeneticVariation CLINVAR

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		0.100 CausalMutation CLINVAR Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation. 28315472

2017
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		0.100 SusceptibilityMutation CLINVAR

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 CausalMutation CLINVAR

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.100 SusceptibilityMutation CLINVAR

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 CausalMutation CLINVAR

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation CLINVAR