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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ccbe1 and Hennekam 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 CCBE1 (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to Hennekam syndrome  (DOID:0060366)
  • 4 papers in RGD have been used to annotate Ccbe1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:19911200 PMID:19935664


    • An association has been curated linking Ccbe1 and Hennekam 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 CCBE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Hennekam syndrome  (DOID:0060366)
  • 4 papers in RGD have been used to annotate Ccbe1
  • Curation Notes: ClinVar Annotator: match by term: LYMPHATIC DYSPLASIA, GENERALIZED
  • Original References(s): PMID:19935664 PMID:25741868 PMID:25814692 PMID:28492532 PMID:28985353 PMID:32472549 PMID:32629717


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