GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 Biomarker disease CTD_human A novel syndrome, combining features of CCM and GCPS, can be added to the group of entities that result from deleterious genetic variants involving GLI3, including GCPS, acrocallosal syndrome, Pallister-Hall syndrome, and contiguous gene syndrome. 18154020 2007
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE Since others have excluded GLI3 in ACS, we suggest that ACS may represent a heterogeneous group of disorders that, in some cases, may result from a mutation in GLI3 and represent a severe, allelic form of GCPS. 12414818 2002
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE GLI3 mutations in GCPS patients include point, frameshift, translocation, and gross deletion mutations. 14608643 2003
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 10441342 1999
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE Human GLI3 gene mutations have been identified in several phenotypes of digital abnormality such as Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly. 15811011 2005
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease UNIPROT Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 10441342 1999
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE Large deletions or translocations resulting in haploinsufficiency of the GLI3 gene have been associated with Greig cephalopolysyndactyly syndrome (GCPS; M175700) although no mutations have been identified in GCPS patients with normal karyotypes. 9054938 1997
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 Biomarker disease CTD_human Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 10441342 1999
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region. 8001967 1994
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 Biomarker disease MGD These results strongly suggest that the deficiency of GLI3 function leads to GCPS. 8387379 1993
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 CausalMutation disease CLINVAR GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families. 26508445 2016
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE Mutations in GLI3 lead to the development of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutations extra toes (Xt) and anterior digit deformity (add). 7814032 1995
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE Our findings fully support previous genotype-phenotype correlations, showing that exonic deletions, missense mutations, as well as truncating variants localised out of the middle third of the GLI3 gene result in GCPS/PPD-IV and not PHS. 22903559 2012
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 Biomarker disease BEFREE These results strongly suggest that the deficiency of GLI3 function leads to GCPS. 8387379 1993
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease CLINVAR To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. 15739154 2005
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE The present findings provide an explanation for the pathogenesis of GCPS in patients carrying C-terminal point mutations, and close the gap in our understanding of how GLI3-genotypes give rise to particular phenotypes. 19829694 2009
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 CausalMutation disease CLINVAR Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. 27231705 2016
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND 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: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 CausalMutation disease CLINVAR To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. 15739154 2005
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 Biomarker disease CTD_human GLI3 mutations in GCPS patients include point, frameshift, translocation, and gross deletion mutations. 14608643 2003
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 Biomarker disease CTD_human Greig cephalopolysyndactyly syndrome (GCPS) is a rare multiple congenital anomaly syndrome that is inherited in an autosomal dominant pattern and is caused by haploinsufficiency of the GLI3 gene. 18241058 2008
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above) and a GLI3 mutation may be diagnosed definitively with GCPS. 18435847 2008
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE The GCPS mutant protein has no effect on GLI3-activated PTCH1 transcription, consistent with the role of haploinsufficiency in this disorder. 10077605 1999
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Metopic craniosynostosis due to mutations in GLI3: A novel association. 20583172 2010
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 CausalMutation disease CLINVAR Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 20672375 2010