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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking SMAD4 and genetic disease 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:8602142 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 71 papers in RGD have been used to annotate SMAD4
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:11977156 PMID:22158539 PMID:22243968 PMID:22585601 PMID:22683461 PMID:24398790 PMID:25741868 PMID:26636501 PMID:27302097 PMID:28406602 PMID:28492532 PMID:29230941 PMID:30921096 PMID:31837202 PMID:32175297 PMID:36194927


    • An association has been curated linking SMAD4 and genetic disease 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:8639004 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 71 papers in RGD have been used to annotate SMAD4
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:22158539 PMID:24033266 PMID:24398790 PMID:24424121 PMID:24580733 PMID:24715504 PMID:24841914 PMID:25741868 PMID:26633542 PMID:27302097 PMID:28492532 PMID:28628100 PMID:30968316 PMID:31474762 PMID:31595668 PMID:31654632 PMID:31837202 PMID:33428109


    • An association has been curated linking SMAD4 and genetic disease 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:13511167|RGD:34896889 (Homo sapiens) & RGD:13511167|RGD:34896889 (Homo sapiens)
  • 33187 RGD objects have been annotated to genetic disease  (DOID:630)
  • 71 papers in RGD have been used to annotate SMAD4
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:25741868 PMID:28492532


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