GLI2, GLI family zinc finger 2, 2736

N. diseases: 351; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME
0.710 GeneticVariation disease BEFREE A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling. 30629636 2019
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME
0.710 GeneticVariation disease UNIPROT GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome. 28973407 2017
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME
0.710 Biomarker disease GENOMICS_ENGLAND Role of GLI2 in hypopituitarism phenotype. 25878059 2015
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME
0.710 GermlineCausalMutation disease ORPHANET Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. 24744436 2014
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME
0.710 GeneticVariation disease UNIPROT Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency. 23408573 2013
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME
0.710 Biomarker disease GENOMICS_ENGLAND Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. 20685856 2010
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME
0.710 GeneticVariation disease UNIPROT Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. 20685856 2010
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME
0.710 GeneticVariation disease CLINVAR Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. 20685856 2010
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME
0.710 GeneticVariation disease UNIPROT A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. 15994174 2005
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME
0.710 GeneticVariation disease CLINVAR Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. 14581620 2003
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME
0.710 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. 14581620 2003
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME
0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME
0.710 CausalMutation disease CLINVAR
CUI: C4014479
Disease: CULLER-JONES SYNDROME
CULLER-JONES SYNDROME
0.710 Biomarker disease CTD_human