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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Smad3 and Loeys-Dietz syndrome 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 SMAD3 (Homo sapiens) [(EXP) inferred from experiment]
  • 42 RGD objects have been annotated to Loeys-Dietz syndrome  (DOID:0050466)
  • 52 papers in RGD have been used to annotate Smad3
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:22772368


    • An association has been curated linking Smad3 and Loeys-Dietz syndrome 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 SMAD3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 42 RGD objects have been annotated to Loeys-Dietz syndrome  (DOID:0050466)
  • 52 papers in RGD have been used to annotate Smad3
  • Curation Notes: ClinVar Annotator: match by term: Loeys-Dietz syndrome
  • Original References(s): PMID:17576681 PMID:21217753 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25644172 PMID:25741868 PMID:28492532 PMID:29392890 PMID:30661052 PMID:31085000 PMID:9536098


    • An association has been curated linking Smad3 and Loeys-Dietz syndrome 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 SMAD3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 42 RGD objects have been annotated to Loeys-Dietz syndrome  (DOID:0050466)
  • 52 papers in RGD have been used to annotate Smad3
  • Curation Notes: ClinVar Annotator: match by term: Loeys-Dietz syndrome
  • Original References(s): PMID:21217753 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25644172 PMID:25741868 PMID:28492532 PMID:29392890 PMID:30661052 PMID:30787465 PMID:31085000


    • An association has been curated linking Smad3 and Loeys-Dietz syndrome 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 SMAD3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 42 RGD objects have been annotated to Loeys-Dietz syndrome  (DOID:0050466)
  • 52 papers in RGD have been used to annotate Smad3
  • Curation Notes: ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
  • Original References(s): PMID:21217753 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25644172 PMID:25741868 PMID:28492532 PMID:29392890 PMID:30661052 PMID:30787465 PMID:31085000 PMID:31915033


    • An association has been curated linking Smad3 and Loeys-Dietz syndrome 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 SMAD3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 42 RGD objects have been annotated to Loeys-Dietz syndrome  (DOID:0050466)
  • 52 papers in RGD have been used to annotate Smad3
  • Curation Notes: ClinVar Annotator: match by term: Loeys-Dietz syndrome
  • Original References(s): PMID:16199547 PMID:17576681 PMID:21217753 PMID:21778426 PMID:24033266 PMID:24711937 PMID:24804794 PMID:25644172 PMID:25741868 PMID:28492532 PMID:29392890 PMID:30661052 PMID:30787465 PMID:31085000 PMID:31915033 PMID:9536098


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