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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Ihh and acrocapitofemoral dysplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with IHH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to acrocapitofemoral dysplasia  (DOID:0050604)
  • 36 papers in RGD have been used to annotate Ihh


  • An association has been curated linking Ihh and acrocapitofemoral dysplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Hellemans J, etal., Am J Hum Genet. 2003 Apr;72(4):1040-6. Epub 2003 Mar 11.
  • The annotation has been inferred from sequence orthology with IHH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Hellemans J, etal., Am J Hum Genet. 2003 Apr;72(4):1040-6. Epub 2003 Mar 11.
  • 1 RGD objects have been annotated to acrocapitofemoral dysplasia  (DOID:0050604)
  • 36 papers in RGD have been used to annotate Ihh
  • Curation Notes: DNA:point mutations:CDS:p.P46L (137C>T), p.V190A (T569T>C) (human)


  • An association has been curated linking Ihh and acrocapitofemoral dysplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with IHH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to acrocapitofemoral dysplasia  (DOID:0050604)
  • 36 papers in RGD have been used to annotate Ihh
  • Curation Notes: ClinVar Annotator: match by term: Acrocapitofemoral dysplasia
  • Original References(s): PMID:12624140 PMID:12632327 PMID:25741868 PMID:28492532 PMID:34530144


  • An association has been curated linking Ihh and acrocapitofemoral dysplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with IHH (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to acrocapitofemoral dysplasia  (DOID:0050604)
  • 36 papers in RGD have been used to annotate Ihh
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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