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 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 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 GermlineCausalMutation disease ORPHANET The Greig cephalopolysyndactyly syndrome. 18435847 2008
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		0.700 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2015 revision. 26394607 2015
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		0.620 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2015 revision. 26394607 2015
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		0.620 GermlineCausalMutation disease ORPHANET A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet. 22428873 2012
CUI: C1868120
Disease: POSTAXIAL POLYDACTYLY, TYPE B
POSTAXIAL POLYDACTYLY, TYPE B 		0.500 GermlineCausalMutation disease ORPHANET Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. 18000979 2007
CUI: C1868120
Disease: POSTAXIAL POLYDACTYLY, TYPE B
POSTAXIAL POLYDACTYLY, TYPE B 		0.500 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2015 revision. 26394607 2015
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.350 GermlineCausalMutation disease ORPHANET Here, we describe a second patient with acrocallosal syndrome, who has a de novo, novel c.2786T>C mutation in GLI3, which predicts p.Leu929Pro. 23633388 2013
CUI: C0796147
Disease: Acrocallosal Syndrome
Acrocallosal Syndrome 		0.350 GermlineCausalMutation disease ORPHANET 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: C0265553
Disease: Polysyndactyly
Polysyndactyly 		0.310 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2015 revision. 26394607 2015
CUI: C0265633
Disease: Congenital absence of tibia
Congenital absence of tibia 		0.310 GermlineCausalMutation disease ORPHANET Here we describe an ~5 kb deletion within the SHH repressor GLI3 in two patients with bilateral tibial hemimelia. 26791356 2016
CUI: C2931760
Disease: Acrocallosal syndrome, Schinzel type
Acrocallosal syndrome, Schinzel type 		0.300 GermlineCausalMutation disease ORPHANET De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. 12414818 2002
CUI: C2931760
Disease: Acrocallosal syndrome, Schinzel type
Acrocallosal syndrome, Schinzel type 		0.300 GermlineCausalMutation disease ORPHANET A de novo GLI3 mutation in a patient with acrocallosal syndrome. 23633388 2013
CUI: C0265306
Disease: Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome 		1.000 CausalMutation disease CLINVAR 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 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 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 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 CausalMutation disease CLINVAR Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 20672375 2010
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 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 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 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 CausalMutation disease CLINVAR Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 20672375 2010
CUI: C4282400
Disease: Polydactyly, Postaxial, Type A1
Polydactyly, Postaxial, Type A1 		0.710 CausalMutation disease CLINVAR Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation. 28315472 2017