GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Pallister-Hall syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation disease BEFREE Here we report on the molecular and clinical study of 76 cases from 55 families with either a GLI3 mutation (49 GCPS and 21 PHS), or a large deletion encompassing the GLI3 gene (6 GCPS cases). 24736735 2015
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker disease GENOMICS_ENGLAND Pallister-Hall syndrome is a very rare autosomal dominant genetic disorder due to mutation in GLI3 gene in the short arm of chromosome 7 with variable penetrance and expressivity. 29204208 2019
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker disease GENOMICS_ENGLAND GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. 9054938 1997
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation disease CLINVAR We studied the involvement of GLI3 in additional phenotypes of digital abnormalities in one family (UR003) with preaxial polydactyly type-IV (PPD-IV), three families (UR014, UR015, and UR016) with dominant PAP-A/B (with PPD-A and -B in the same family), and one family with PHS. 10441570 1999
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation disease BEFREE Here, we report that cochleae from a mouse model of PHS (Gli3(Delta699)), which produces only the truncated, repressor form of GLI3, have a variably penetrant phenotype that includes an increase in the size of the sensory epithelium and the development of large ectopic sensory patches in Kölliker's organ (KO). 18632939 2008
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation disease BEFREE In addition to GCPS, Pallister-Hall syndrome (PHS; MIM 146510) and post-axial polydactyly type A (PAP-A; MIM 174200), two other disorders of human development, are caused by GLI3 mutations. 10441342 1999
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 AlteredExpression disease BEFREE Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor. 26604140 2016
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker disease CTD_human Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. 21532573 2011
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation disease BEFREE Mutations in different domains of the GLI3 gene underlie several congenital diseases including Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). 29368652 2018
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker disease BEFREE We studied the involvement of GLI3 in additional phenotypes of digital abnormalities in one family (UR003) with preaxial polydactyly type-IV (PPD-IV), three families (UR014, UR015, and UR016) with dominant PAP-A/B (with PPD-A and -B in the same family), and one family with PHS. 10441570 1999
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker disease GENOMICS_ENGLAND GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. 9054938 1997
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation disease BEFREE Approximately 5% of HH cases are associated with Pallister-Hall syndrome (PHS), which is caused by haploinsufficiency of GLI3. 18252217 2008
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker disease GENOMICS_ENGLAND We studied the involvement of GLI3 in additional phenotypes of digital abnormalities in one family (UR003) with preaxial polydactyly type-IV (PPD-IV), three families (UR014, UR015, and UR016) with dominant PAP-A/B (with PPD-A and -B in the same family), and one family with PHS. 10441570 1999
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 CausalMutation disease CLINVAR New insights into genotype-phenotype correlation for GLI3 mutations. 24736735 2015
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation disease BEFREE Mutations that lead to loss of function of the protein and to haploinsufficiency cause GCPS, while truncating mutations that result in constitutive repressor function of GLI3 lead to PHS. 19829694 2009
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation disease BEFREE Pallister-Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3. 28429635 2019
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 CausalMutation disease CLINVAR Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. 27231705 2016
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker disease BEFREE Genotype/phenotype correlations have led to fine mapping of GLI3 and the recognition that PHS is caused by dominant negative mutations in the middle third of the gene. 25424727 2014
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation disease BEFREE The most important issue might be that GCPS and PHS exhibit an autosomal dominant trait, but mouse homologs, such as Pdn/Pdn, Xt(H)/Xt(H), Xt(J)/Xt(J) and Gli3(tmlUrt)/Gli3(tmlUrt), are autosomal recessive traits in the manifestation of similar phenotypes to human diseases. 20201963 2010
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 CausalMutation disease CLINVAR To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. 15739154 2005
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker disease MGD Mouse limbs expressing only the Gli3 repressor resemble those of Sonic hedgehog mutants. 23644062 2013
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation disease BEFREE GLI3 mutations have been implicated in the mouse mutant extra toes, as well as in human Greig cephalopolydactaly syndrome and the autosomal dominant form of Pallister-Hall syndrome. 9440116 1997
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation disease BEFREE Most of the time, this hamartoma occurs in Pallister-Hall syndrome (PHS), due to heterozygous GLI3 mutations. 19449422 2009
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation disease BEFREE We have previously shown GLI3 mutations in two other small, moderately affected families with Pallister-Hall syndrome. 9192261 1997
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation disease BEFREE Mutations in GLI3 have been shown to cause Greig cephalopolysyndactyly, Pallister-Hall syndrome and non-syndromic polydactyly. 25267529 2014