GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
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 Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 20672375 2010
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: 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: 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
dbSNP: rs116840756
rs116840756
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs116840757
rs116840757
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs116840758
rs116840758
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs116840759
rs116840759
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs116840760
rs116840760
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs116840761
rs116840761
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs116840762
rs116840762
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs116840763
rs116840763
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease:
Pallister-Hall syndrome
C 0.700 CausalMutation CLINVAR