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
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Heterozygous GLI2 loss of function mutations in humans have been reported in holoprosencephaly (HPE), HPE-like phenotypes associated with pituitary anomalies and combined pituitary hormone deficiency with or without other extra-pituitary findings. 30548673 2019
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 Biomarker disease CTD_human Although normally indistinguishable from wild-type littermates, we demonstrate that mice with single-allele Gli2 mutations exhibit increased penetrance and severity of HPE in response to low-dose teratogen exposure. 27585885 2016
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 Biomarker disease BEFREE Sonic Hedgehog (SHH) and GLI2, an obligatory mediator of SHH signal transduction, are holoprosencephaly (HPE)-associated genes essential in pituitary formation. 25056824 2015
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE However, the family presented here is unique as none of the three identified individuals with a GLI2 deletion showed any typical signs of holoprosencephaly, whereas all patients reported so far were referred for genetic testing because at least one member exhibited holoprosencephaly and related features. 25820550 2015
CUI: C1835819
Disease: PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Role of GLI2 in hypopituitarism phenotype. 25878059 2015
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Pituitary insufficiency other than isolated diabetes insipidus is a rare finding of HPE, and occurs most frequently in patients with GLI2 mutations (the phenotype of which typically does not include frank neuroanatomic anomalies such as HPE); ours is the only described patient with a ZIC2 mutation and both anterior and posterior pituitary dysfunction. 24706429 2014
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. 24744436 2014
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 Biomarker disease BEFREE Genomic GLI2 aberrations that mainly result in truncated proteins have been reported to cause holoprosencephaly or holoprosencephaly-like features, sometimes associated with hypopituitarism. 23408573 2013
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Heterozygous nonsense GLI2 mutations have been reported in patients with isolated or combined pituitary hormone deficiency (CPHD), with or without holoprosencephaly. 22967285 2013
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Mutations in GLI2 have been found in association with holoprosencephaly (HPE) and HPE-like phenotype, with and without pituitary hormone deficiencies; as well as in patients with pituitary dysfunction with and without HPE craniofacial features. 23304807 2012
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 GeneticVariation disease BEFREE Mutations in the human GLI2 gene were first reported in association with defective anterior pituitary formation, panhypopituitarism, and forebrain anomalies represented by typical holoprosencephaly (HPE) and holoprosencephaly-like (HPE-L) phenotypes and postaxial polydactyly. 21204792 2012