Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. 22967285

2013
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. 22967285

2013
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Clinical findings in patients with GLI2 mutations--phenotypic variability. 21204792

2012
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Clinical findings in patients with GLI2 mutations--phenotypic variability. 21204792

2012
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. 20685856

2010
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. 20685856

2010
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. 15994174

2005
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. 15994174

2005
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. 14581620

2003
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. 14581620

2003