Source: GENOMICS_ENGLAND

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 Biomarker GENOMICS_ENGLAND Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly. 31115189

2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 Biomarker GENOMICS_ENGLAND 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 Biomarker GENOMICS_ENGLAND Metopic craniosynostosis due to mutations in GLI3: A novel association. 20583172

2010
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 Biomarker GENOMICS_ENGLAND 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 Biomarker GENOMICS_ENGLAND 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: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker GENOMICS_ENGLAND Pallister-Hall syndrome is a very rare autosomal dominant genetic disorder due to mutation in GLI3 gene in the short arm of chromosome 7 with variable penetrance and expressivity. 29204208

2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker GENOMICS_ENGLAND Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly. 31115189

2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker GENOMICS_ENGLAND 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 Biomarker GENOMICS_ENGLAND 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: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker GENOMICS_ENGLAND GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. 9054938

1997
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker GENOMICS_ENGLAND GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. 9054938

1997
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		0.710 Biomarker GENOMICS_ENGLAND Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly. 31115189

2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		0.710 Biomarker GENOMICS_ENGLAND 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: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		0.710 Biomarker GENOMICS_ENGLAND

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 Biomarker GENOMICS_ENGLAND Pathogenic mutations in the GLI3 gene (glioma-associated oncogene family zinc finger 3) have been associated with both nonsyndromic and syndromic polydactyly. 31115189

2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		0.700 Biomarker GENOMICS_ENGLAND Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly. 31115189

2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		0.630 Biomarker GENOMICS_ENGLAND Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly. 31115189

2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		0.620 Biomarker GENOMICS_ENGLAND

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		0.510 Biomarker GENOMICS_ENGLAND Pallister-Hall Syndrome. 29204208

2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker GENOMICS_ENGLAND