IHH, Indian hedgehog signaling molecule, 3549

N. diseases: 130; N. variants: 14
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
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.400 Biomarker phenotype HPO
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.300 Biomarker group CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		0.300 Biomarker disease CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C1863307
Disease: Acropectorovertebral Dysplasia, F-Form
Acropectorovertebral Dysplasia, F-Form 		0.300 Biomarker disease GENOMICS_ENGLAND Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. 25959774 2015
CUI: C0010093
Disease: Corpus Luteum Cyst
Corpus Luteum Cyst 		0.300 Biomarker disease CTD_human New insights into the pathogenesis of cystic follicles in cattle: microarray analysis of gene expression in granulosa cells. 21239663 2011
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.300 Biomarker disease CTD_human Molecular evidence for differences in endometrium in severe versus mild endometriosis. 21063030 2011
CUI: C0029927
Disease: Ovarian Cysts
Ovarian Cysts 		0.300 Biomarker disease CTD_human New insights into the pathogenesis of cystic follicles in cattle: microarray analysis of gene expression in granulosa cells. 21239663 2011
CUI: C0269102
Disease: Endometrioma
Endometrioma 		0.300 Biomarker disease CTD_human Molecular evidence for differences in endometrium in severe versus mild endometriosis. 21063030 2011
CUI: C1861380
Disease: Syndactyly, Type I
Syndactyly, Type I 		0.300 Biomarker disease GENOMICS_ENGLAND Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 21167467 2011
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.210 Biomarker disease BEFREE Despite the involvement of IHH in the development of the ENS, IHH is not a major gene in HSCR. 14651602 2003
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.210 Biomarker disease MGD Hedgehog signals regulate multiple aspects of gastrointestinal development. 10821773 2000
CUI: C0157946
Disease: Osteoarthrosis, localized, not specified whether primary or secondary
Osteoarthrosis, localized, not specified whether primary or secondary 		0.200 Biomarker disease RGD Indian hedgehog in synovial fluid is a novel marker for early cartilage lesions in human knee joint. 24786088 2014
CUI: C0149955
Disease: Annular pancreas
Annular pancreas 		0.200 Biomarker disease MGD Hedgehog signals regulate multiple aspects of gastrointestinal development. 10821773 2000
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.130 Biomarker disease BEFREE Brachydactyly A1 (BDA1) is an autosomal dominant disorder characterized by shortness of all middle phalanges of the hands and toes, shortness of the proximal phalanges of the first digit, and short stature. 20683927 2010
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.130 Biomarker disease BEFREE Mutations in the gene Indian Hedgehog (IHH) that cause Brachydactyly A-1 (BDA1) have been restricted to a specific region of the N-terminal active fragment of Indian Hedgehog involving codons 95, 100, 131, and 154. 19277064 2009
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.130 Biomarker disease BEFREE In this article, we attempt to review the current state of knowledge on the genetic features of BDA1 with its century-old history and signalling pathway of IHH, and also discuss genotype-phenotype correlation not only of BDA1, but also of all types of brachydactyly. 15225411 2004
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.130 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 GeneticVariation disease BEFREE Identified IHH variants segregate with short stature in a dominant inheritance pattern. 29155992 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 Biomarker disease BEFREE Brachydactyly A1 (BDA1) is an autosomal dominant disorder characterized by shortness of all middle phalanges of the hands and toes, shortness of the proximal phalanges of the first digit, and short stature. 20683927 2010
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 Biomarker disease HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO