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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SMAD3 and Familial Thoracic Aortic Aneurysm 1 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:155959288 (Homo sapiens)
  • 15 RGD objects have been annotated to Familial Thoracic Aortic Aneurysm 1  (DOID:9008615)
  • 23 papers in RGD have been used to annotate SMAD3
  • Curation Notes: ClinVar Annotator: match by term: Familial thoracic aortic aneurysm
  • Original References(s): PMID:28492532


    • An association has been curated linking SMAD3 and Familial Thoracic Aortic Aneurysm 1 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:13785494 (Homo sapiens)
  • 15 RGD objects have been annotated to Familial Thoracic Aortic Aneurysm 1  (DOID:9008615)
  • 23 papers in RGD have been used to annotate SMAD3
  • Curation Notes: ClinVar Annotator: match by term: Annuloaortic ectasia


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