IHH, Indian hedgehog signaling molecule, 3549

N. diseases: 130; N. variants: 14
Disease: BRACHYDACTYLY, TYPE A1 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 GeneticVariation disease BEFREE Brachydactyly type A1 (BDA1, OMIM 112500) is a rare inherited malformation characterized primarily by shortness or absence of middle bones of fingers and toes. 30651074 2019
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 GeneticVariation disease BEFREE None of them have classic features of brachydactyly type A1, which was previously associated with IHH mutations. 29155992 2018
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 Biomarker disease GENOMICS_ENGLAND Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. 25959774 2015
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 Biomarker disease GENOMICS_ENGLAND Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 21167467 2011
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 GeneticVariation disease UNIPROT Heterozygous missense mutations in the Indian Hedgehog (IHH) gene have been identified as a cause of BDA1; however, the biochemical consequences of these mutations are unclear. 21537345 2011
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 GeneticVariation disease BEFREE Heterozygous missense mutations in the Indian Hedgehog (IHH) gene have been identified as a cause of BDA1; however, the biochemical consequences of these mutations are unclear. 21537345 2011
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 GeneticVariation disease BEFREE Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene. 19464397 2009
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 Biomarker disease MGD A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. 19252479 2009
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 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: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 GeneticVariation disease BEFREE A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. 12384778 2002
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 GeneticVariation disease UNIPROT A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. 12384778 2002
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 GeneticVariation disease BEFREE Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges (Fig.1a). 11455389 2001
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 GermlineCausalMutation disease ORPHANET Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. 11455389 2001
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 GeneticVariation disease UNIPROT Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. 11455389 2001
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 CausalMutation disease CLINVAR
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 Biomarker disease GENOMICS_ENGLAND
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		0.960 Biomarker disease CTD_human