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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking CCBE1 and Hennekam syndrome 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:8594992 (Homo sapiens)
  • 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:32472549 PMID:32629717


    • An association has been curated linking CCBE1 and Hennekam syndrome in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 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 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:28901450 (Homo sapiens)
  • 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:25741868 PMID:28492532 PMID:28985353


    • An association has been curated linking CCBE1 and Hennekam syndrome 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:11628647|RGD:126728488 (Homo sapiens) & RGD:11628647|RGD:126728488 (Homo sapiens)
  • 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:25741868 PMID:28492532


    • An association has been curated linking CCBE1 and Hennekam syndrome 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:11623496|RGD:28907808 (Homo sapiens) & RGD:11623496|RGD:28907808 (Homo sapiens)
  • 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


    • An association has been curated linking CCBE1 and Hennekam syndrome 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:11622434|RGD:11622846|RGD:11632378|RGD:15194463|RGD:28894536|RGD:28903743 (Homo sapiens) & RGD:11622434|RGD:11622846|RGD:11632378|RGD:15194463|RGD:28894536|RGD:28903743 (Homo sapiens) & RGD:11622434|RGD:11622846|RGD:11632378|RGD:15194463|RGD:28894536|RGD:28903743 (Homo sapiens) & RGD:11622434|RGD:11622846|RGD:11632378|RGD:15194463|RGD:28894536|RGD:28903743 (Homo sapiens) & RGD:11622434|RGD:11622846|RGD:11632378|RGD:15194463|RGD:28894536|RGD:28903743 (Homo sapiens) & RGD:11622434|RGD:11622846|RGD:11632378|RGD:15194463|RGD:28894536|RGD:28903743 (Homo sapiens)
  • 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:28492532


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