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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CBS and hyperhomocysteinemia in Sus scrofa.        

  • 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 CBS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 121 RGD objects have been annotated to hyperhomocysteinemia  (DOID:9279)
  • 0 papers in RGD have been used to annotate CBS
  • Curation Notes: ClinVar Annotator: match by term: Hyperhomocysteinemia
  • Original References(s): PMID:12686134 PMID:16205833 PMID:16479318 PMID:21517828 PMID:22267502 PMID:22977242 PMID:25741868 PMID:28492532 PMID:29508359 PMID:29600437 PMID:7762555


    • An association has been curated linking CBS and hyperhomocysteinemia in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with CBS (Homo sapiens)
  • 121 RGD objects have been annotated to hyperhomocysteinemia  (DOID:9279)
  • 0 papers in RGD have been used to annotate CBS
  • Qualifier: susceptibility
  • Curation Notes: associated with coronary artery disease; DNA:insertion:cds: (844ins68) (human)
  • Original References(s): PMID:10704624 REF_RGD_ID:40903036


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