Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation 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

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
Greig cephalopolysyndactyly syndrome
1.000 GeneticVariation CLINVAR To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. 15739154

2005

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome
0.900 GeneticVariation CLINVAR We studied the involvement of GLI3 in additional phenotypes of digital abnormalities in one family (UR003) with preaxial polydactyly type-IV (PPD-IV), three families (UR014, UR015, and UR016) with dominant PAP-A/B (with PPD-A and -B in the same family), and one family with PHS. 10441570

1999

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome
0.900 GeneticVariation CLINVAR To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. 15739154

2005

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL
0.490 GeneticVariation CLINVAR

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.110 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.100 GeneticVariation GWASDB Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0424678
Disease: Lean body mass
Lean body mass
0.100 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698

2019

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.100 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396

2018

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C1285654
Disease: Memory performance
Memory performance
0.100 GeneticVariation GWASCAT Genome-wide association study of language performance in Alzheimer's disease. 28577822

2017

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0152427
Disease: Polydactyly
Polydactyly
0.700 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas
0.630 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
0.310 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0848558
Disease: Hypospadias
Hypospadias
0.300 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.160 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis
0.130 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.120 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
0.120 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
0.110 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0017638
Disease: Glioma
Glioma
0.110 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly
0.110 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.110 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly
0.110 Biomarker HPO

Entrez Id: 2737
Gene Symbol: GLI3
GLI3
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra
0.110 Biomarker HPO