Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3549
Gene Symbol: IHH
IHH
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		0.710 Biomarker GENOMICS_ENGLAND Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. 25959774

2015
Entrez Id: 3549
Gene Symbol: IHH
IHH
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		0.710 Biomarker GENOMICS_ENGLAND Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 21167467

2011
Entrez Id: 3549
Gene Symbol: IHH
IHH
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		0.710 Biomarker GENOMICS_ENGLAND Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. 12632327

2003
Entrez Id: 3549
Gene Symbol: IHH
IHH
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		0.710 Biomarker GENOMICS_ENGLAND