Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.710 GeneticVariation disease BEFREE A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling. 30629636 2019
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.710 GeneticVariation disease UNIPROT GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome. 28973407 2017
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.710 Biomarker disease GENOMICS_ENGLAND Role of GLI2 in hypopituitarism phenotype. 25878059 2015
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.710 GermlineCausalMutation disease ORPHANET Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. 24744436 2014
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.710 GeneticVariation disease UNIPROT Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency. 23408573 2013
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.710 Biomarker disease GENOMICS_ENGLAND 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 		0.710 GeneticVariation disease UNIPROT 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 		0.710 GeneticVariation disease 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 		0.710 GeneticVariation disease UNIPROT 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 		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
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		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
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.710 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.710 CausalMutation disease CLINVAR
Entrez Id: 2736
Gene Symbol: GLI2
GLI2 		0.710 Biomarker disease CTD_human
Entrez Id: 6608
Gene Symbol: SMO
SMO 		0.020 GeneticVariation disease BEFREE The blaschkoid pattern implies mosaicism, and indeed CJS was found in 2016 to be caused by a recurrent postzygotic mutation in a gene of the hedgehog signalling pathway, namely SMO, c.1234C>T, p.Leu412Phe. 31120550 2020
Entrez Id: 6608
Gene Symbol: SMO
SMO 		0.020 GeneticVariation disease BEFREE A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. 28386950 2017