GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Pallister-Hall syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520063
rs1057520063
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall 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: C0265220
Disease:
Pallister-Hall 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: C0265220
Disease:
Pallister-Hall 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: C0265220
Disease:
Pallister-Hall 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: C0265220
Disease:
Pallister-Hall 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: C0265220
Disease:
Pallister-Hall 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: C0265220
Disease:
Pallister-Hall 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: C0265220
Disease:
Pallister-Hall 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: C0265220
Disease:
Pallister-Hall 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: C0265220
Disease:
Pallister-Hall 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: C0265220
Disease:
Pallister-Hall syndrome 		T 0.700 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
dbSNP: rs116840742
rs116840742
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs116840743
rs116840743
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs116840744
rs116840744
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs116840745
rs116840745
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs116840746
rs116840746
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs116840747
rs116840747
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs116840748
rs116840748
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs116840749
rs116840749
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs116840750
rs116840750
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs116840751
rs116840751
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs116840752
rs116840752
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs116840753
rs116840753
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs116840754
rs116840754
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs116840755
rs116840755
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome 		G 0.700 CausalMutation CLINVAR