Source: INFERRED

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: C0152427
Disease: Polydactyly
Polydactyly 		0.700 Biomarker HPO

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: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		0.630 Biomarker HPO

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: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.310 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.300 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.160 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		0.130 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.120 Biomarker HPO