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GENE - TERM ANNOTATION REPORT

10 Annotations Found.

An association has been curated linking IHH and acrocapitofemoral dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Hellemans J, etal., Am J Hum Genet. 2003 Apr;72(4):1040-6. Epub 2003 Mar 11.
  • 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)
  • 27 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 Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8560744 (Homo sapiens)
  • 1 RGD objects have been annotated to acrocapitofemoral dysplasia  (DOID:0050604)
  • 27 papers in RGD have been used to annotate IHH
  • Curation Notes: ClinVar Annotator: match by term: Acrocapitofemoral dysplasia
  • Original References(s): PMID:12632327


    • An association has been curated linking IHH and acrocapitofemoral dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to acrocapitofemoral dysplasia  (DOID:0050604)
  • 27 papers in RGD have been used to annotate IHH


    • An association has been curated linking IHH and acrocapitofemoral dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:21068927 (Homo sapiens)
  • 1 RGD objects have been annotated to acrocapitofemoral dysplasia  (DOID:0050604)
  • 27 papers in RGD have been used to annotate IHH
  • Curation Notes: ClinVar Annotator: match by term: Acrocapitofemoral dysplasia


    • An association has been curated linking IHH and acrocapitofemoral dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8560745 (Homo sapiens)
  • 1 RGD objects have been annotated to acrocapitofemoral dysplasia  (DOID:0050604)
  • 27 papers in RGD have been used to annotate IHH
  • Curation Notes: ClinVar Annotator: match by term: Acrocapitofemoral dysplasia
  • Original References(s): PMID:12632327 PMID:25741868


    • An association has been curated linking IHH and acrocapitofemoral dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:153000659 (Homo sapiens)
  • 1 RGD objects have been annotated to acrocapitofemoral dysplasia  (DOID:0050604)
  • 27 papers in RGD have been used to annotate IHH
  • Curation Notes: ClinVar Annotator: match by term: Acrocapitofemoral dysplasia
  • Original References(s): PMID:12624140 PMID:25741868


    • An association has been curated linking IHH and acrocapitofemoral dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:150451476 (Homo sapiens)
  • 1 RGD objects have been annotated to acrocapitofemoral dysplasia  (DOID:0050604)
  • 27 papers in RGD have been used to annotate IHH
  • Curation Notes: ClinVar Annotator: match by term: Acrocapitofemoral dysplasia
  • Original References(s): PMID:34530144


    • An association has been curated linking IHH and acrocapitofemoral dysplasia in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 1 RGD objects have been annotated to acrocapitofemoral dysplasia  (DOID:0050604)
  • 27 papers in RGD have been used to annotate IHH
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking IHH and acrocapitofemoral dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11590440|RGD:11593629|RGD:11597154|RGD:13833083 (Homo sapiens) & RGD:11590440|RGD:11593629|RGD:11597154|RGD:13833083 (Homo sapiens) & RGD:11590440|RGD:11593629|RGD:11597154|RGD:13833083 (Homo sapiens) & RGD:11590440|RGD:11593629|RGD:11597154|RGD:13833083 (Homo sapiens)
  • 1 RGD objects have been annotated to acrocapitofemoral dysplasia  (DOID:0050604)
  • 27 papers in RGD have been used to annotate IHH
  • Curation Notes: ClinVar Annotator: match by term: Acrocapitofemoral dysplasia
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking IHH and acrocapitofemoral dysplasia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:126726662|RGD:152985506|RGD:152985507|RGD:401720915 (Homo sapiens) & RGD:126726662|RGD:152985506|RGD:152985507|RGD:401720915 (Homo sapiens) & RGD:126726662|RGD:152985506|RGD:152985507|RGD:401720915 (Homo sapiens) & RGD:126726662|RGD:152985506|RGD:152985507|RGD:401720915 (Homo sapiens)
  • 1 RGD objects have been annotated to acrocapitofemoral dysplasia  (DOID:0050604)
  • 27 papers in RGD have been used to annotate IHH
  • Curation Notes: ClinVar Annotator: match by term: Acrocapitofemoral dysplasia
  • Original References(s): PMID:25741868


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