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 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 Biomarker disease BEFREE Mutations in the GLI3 gene can also lead to Pallister-Hall syndrome (PHS) and isolated PAPA/B. 22903559 2012
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 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 Mutations in GLI3 have been shown to cause Greig cephalopolysyndactyly, Pallister-Hall syndrome and non-syndromic polydactyly. 25267529 2014
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker disease BEFREE GLI3 plays a predominant role in the pathogenesis of syndromic polydactyly: mutations have been identified in 68% of patients with Greig cephalopolysyndactyly syndrome and 91% of patients with Pallister-Hall syndrome. 24667698 2014
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 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 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 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 CausalMutation disease CLINVAR GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families. 26508445 2016
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 GeneticVariation disease BEFREE We also provide illustrative clinical examples from our practice including a family with a novel GLI3 mutation causing PHS. 28224613 2017
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 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 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 Biomarker disease GENOMICS_ENGLAND Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly. 31115189 2019
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.900 Biomarker disease BEFREE A robust gene-phenotype relationship between GLI3 and Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome has been well elucidated, and less is known about GLI3 mutation-caused isolated polydactyly. 30562203 2019