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: 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