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