GLI3, GLI family zinc finger 3, 2737

N. diseases: 400; N. variants: 73
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917712
rs121917712
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.800 GeneticVariation 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
dbSNP: rs121917712
rs121917712
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.800 GeneticVariation UNIPROT De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. 12414818 2002
dbSNP: rs121917712
rs121917712
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.800 GeneticVariation UNIPROT Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 10441342 1999
dbSNP: rs121917712
rs121917712
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.800 GeneticVariation UNIPROT Point mutations in human GLI3 cause Greig syndrome. 9302279 1997
dbSNP: rs121917712
rs121917712
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121917714
rs121917714
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.710 GeneticVariation BEFREE Both nonsense truncation mutations; p.R792X (GCPS) and p.E1478X (PAP) introduce a premature stop codon leading to loss of C-terminal domains. 26508445 2016
dbSNP: rs28933372
rs28933372
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.710 GeneticVariation BEFREE A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous GLI3 mutations have also been described in syndromes with overlapping clinical manifestations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, trigonocephaly with craniosynostosis and polydactyly, oral-facial-digital syndrome, and non-syndromic polydactyly. 23633388 2013
dbSNP: rs28933372
rs28933372
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.710 GeneticVariation 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
dbSNP: rs28933372
rs28933372
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.710 GeneticVariation UNIPROT De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. 12414818 2002
dbSNP: rs28933372
rs28933372
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.710 GeneticVariation UNIPROT Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 10441342 1999
dbSNP: rs28933372
rs28933372
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		0.710 GeneticVariation UNIPROT Point mutations in human GLI3 cause Greig syndrome. 9302279 1997
dbSNP: rs121917714
rs121917714
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265306
Disease:
Greig cephalopolysyndactyly syndrome 		A 0.710 CausalMutation CLINVAR
dbSNP: rs10269139
rs10269139
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0424678
Disease:
Lean body mass 		0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
dbSNP: rs2237422
rs2237422
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs57734857
rs57734857
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2051935
rs2051935
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs10279985
rs10279985
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1060499558
rs1060499558
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C4282400
Disease:
Polydactyly, Postaxial, Type A1 		G 0.700 CausalMutation 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
dbSNP: rs1060499558
rs1060499558
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0431904
Disease:
Ulnar polydactyly of fingers 		G 0.700 CausalMutation 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
dbSNP: rs3801203
rs3801203
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C1285654
Disease:
Memory performance 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of language performance in Alzheimer's disease. 28577822 2017
dbSNP: rs3801234
rs3801234
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs3801236
rs3801236
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs4724101
rs4724101
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs6949528
rs6949528
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs6955604
rs6955604
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017