GLI2, GLI family zinc finger 2, 2736

N. diseases: 351; N. variants: 37
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917708
rs121917708
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C1835819
Disease:
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		0.800 GeneticVariation UNIPROT Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. 20685856 2010
dbSNP: rs121917708
rs121917708
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C1835819
Disease:
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		0.800 GeneticVariation UNIPROT GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum? 17096318 2006
dbSNP: rs121917708
rs121917708
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C1835819
Disease:
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. 14581620 2003
dbSNP: rs121917708
rs121917708
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C1835819
Disease:
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs13392139
rs13392139
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs35362712
rs35362712
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs35539500
rs35539500
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10192454
rs10192454
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0005890
Disease:
Body Height 		C 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs35539500
rs35539500
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0005890
Disease:
Body Height 		T 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs2166898
rs2166898
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0005890
Disease:
Body Height 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. 25429064 2015
dbSNP: rs1553471273
rs1553471273
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. 22967285 2013
dbSNP: rs1553477189
rs1553477189
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0000772
Disease:
Multiple congenital anomalies 		AC 0.700 CausalMutation CLINVAR Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. 22967285 2013
dbSNP: rs1553479405
rs1553479405
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. 22967285 2013
dbSNP: rs1553479405
rs1553479405
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. 22967285 2013
dbSNP: rs1553479405
rs1553479405
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. 22967285 2013
dbSNP: rs869312965
rs869312965
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. 22967285 2013
dbSNP: rs869312965
rs869312965
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. 22967285 2013
dbSNP: rs1553471273
rs1553471273
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Clinical findings in patients with GLI2 mutations--phenotypic variability. 21204792 2012
dbSNP: rs1553477189
rs1553477189
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0000772
Disease:
Multiple congenital anomalies 		AC 0.700 CausalMutation CLINVAR Clinical findings in patients with GLI2 mutations--phenotypic variability. 21204792 2012
dbSNP: rs1553479405
rs1553479405
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Clinical findings in patients with GLI2 mutations--phenotypic variability. 21204792 2012
dbSNP: rs1553479405
rs1553479405
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Clinical findings in patients with GLI2 mutations--phenotypic variability. 21204792 2012
dbSNP: rs1553479405
rs1553479405
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Clinical findings in patients with GLI2 mutations--phenotypic variability. 21204792 2012
dbSNP: rs869312965
rs869312965
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Clinical findings in patients with GLI2 mutations--phenotypic variability. 21204792 2012
dbSNP: rs869312965
rs869312965
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Clinical findings in patients with GLI2 mutations--phenotypic variability. 21204792 2012
dbSNP: rs1553471273
rs1553471273
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. 20685856 2010