IHH, Indian hedgehog signaling molecule, 3549

N. diseases: 130; N. variants: 14
Disease: Acrocapitofemoral Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		0.710 Biomarker disease GENOMICS_ENGLAND Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. 25959774 2015
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		0.710 Biomarker disease GENOMICS_ENGLAND Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 21167467 2011
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		0.710 GeneticVariation disease BEFREE All of the BDA1 mutations occur in a restricted area of the N-terminal active fragment of the IHH and are in contrast to those mutations causing an autosomal recessive acrocapitofemoral dysplasia, whose mutations are located at the distal N- and C-terminal regions of IHH-N and are physically separated from the BDA1-causing mutations. 19277064 2009
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		0.710 GermlineCausalMutation disease ORPHANET Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. 12632327 2003
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		0.710 GeneticVariation disease UNIPROT Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. 12632327 2003
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		0.710 Biomarker disease GENOMICS_ENGLAND Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. 12632327 2003
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		0.710 CausalMutation disease CLINVAR
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		0.710 Biomarker disease CTD_human
CUI: C1843096
Disease: Acrocapitofemoral Dysplasia
Acrocapitofemoral Dysplasia 		0.710 Biomarker disease GENOMICS_ENGLAND