GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Greig cephalopolysyndactyly syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917712
rs121917712
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.800 GeneticVariation UNIPROT Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. 12794692 2003
dbSNP: rs121917712
rs121917712
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.800 GeneticVariation UNIPROT De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. 12414818 2002
dbSNP: rs121917712
rs121917712
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.800 GeneticVariation UNIPROT Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 10441342 1999
dbSNP: rs121917712
rs121917712
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.800 GeneticVariation UNIPROT Point mutations in human GLI3 cause Greig syndrome. 9302279 1997
dbSNP: rs121917712
rs121917712
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121917714
rs121917714
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.710 GeneticVariation BEFREE Both nonsense truncation mutations; p.R792X (GCPS) and p.E1478X (PAP) introduce a premature stop codon leading to loss of C-terminal domains. 26508445 2016
dbSNP: rs28933372
rs28933372
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.710 GeneticVariation BEFREE A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous GLI3 mutations have also been described in syndromes with overlapping clinical manifestations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, trigonocephaly with craniosynostosis and polydactyly, oral-facial-digital syndrome, and non-syndromic polydactyly. 23633388 2013
dbSNP: rs28933372
rs28933372
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.710 GeneticVariation UNIPROT Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. 12794692 2003
dbSNP: rs28933372
rs28933372
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.710 GeneticVariation UNIPROT De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. 12414818 2002
dbSNP: rs28933372
rs28933372
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.710 GeneticVariation UNIPROT Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 10441342 1999
dbSNP: rs28933372
rs28933372
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.710 GeneticVariation UNIPROT Point mutations in human GLI3 cause Greig syndrome. 9302279 1997
dbSNP: rs121917714
rs121917714
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		A 0.710 CausalMutation CLINVAR
dbSNP: rs1057520063
rs1057520063
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		CA 0.700 CausalMutation CLINVAR GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families. 26508445 2016
dbSNP: rs116840766
rs116840766
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		T 0.700 CausalMutation CLINVAR Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. 27231705 2016
dbSNP: rs1057520063
rs1057520063
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		CA 0.700 CausalMutation CLINVAR New insights into genotype-phenotype correlation for GLI3 mutations. 24736735 2015
dbSNP: rs116840766
rs116840766
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		T 0.700 CausalMutation CLINVAR New insights into genotype-phenotype correlation for GLI3 mutations. 24736735 2015
dbSNP: rs116840770
rs116840770
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		A 0.700 CausalMutation CLINVAR New insights into genotype-phenotype correlation for GLI3 mutations. 24736735 2015
dbSNP: rs1554306094
rs1554306094
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		T 0.700 CausalMutation CLINVAR New insights into genotype-phenotype correlation for GLI3 mutations. 24736735 2015
dbSNP: rs1057520063
rs1057520063
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		CA 0.700 CausalMutation CLINVAR Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 20672375 2010
dbSNP: rs116840766
rs116840766
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		T 0.700 CausalMutation CLINVAR Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. 15739154 2005
dbSNP: rs1375768446
rs1375768446
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		T 0.700 GeneticVariation CLINVAR Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. 15739154 2005
dbSNP: rs1554306094
rs1554306094
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		T 0.700 CausalMutation CLINVAR Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. 15739154 2005
dbSNP: rs121917716
rs121917716
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.700 GeneticVariation UNIPROT Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. 12794692 2003
dbSNP: rs121917716
rs121917716
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.700 GeneticVariation UNIPROT De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. 12414818 2002
dbSNP: rs121917716
rs121917716
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.700 GeneticVariation UNIPROT Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 10441342 1999