GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Disease: Greig cephalopolysyndactyly syndrome ×
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 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 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 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 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 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 GENOMICS_ENGLAND 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 GermlineCausalMutation disease ORPHANET Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. 12794692 2003
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. 12794692 2003
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease UNIPROT Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. 12794692 2003
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 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 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 UNIPROT 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 Biomarker disease GENOMICS_ENGLAND The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. 10441570 1999
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease CLINVAR The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. 10441570 1999
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GermlineCausalMutation disease ORPHANET 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 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 UNIPROT Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 10441342 1999
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 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 CTD_human In two GCPS cases, both of which did not exhibit obvious cytogenetic rearrangements, point mutations were identified in different domains of the protein, showing for the first time that Greig syndrome can be caused by GLI3 point mutations. 9302279 1997
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE In two GCPS cases, both of which did not exhibit obvious cytogenetic rearrangements, point mutations were identified in different domains of the protein, showing for the first time that Greig syndrome can be caused by GLI3 point mutations. 9302279 1997
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 GeneticVariation disease BEFREE Deletions and translocations in GLI3 are associated with the Greig cephalopolysyndactyly syndrome. 9192261 1997
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 Biomarker disease MGD Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development. 9006072 1997