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