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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ccbe1 and Hennekam Lymphangiectasia-Lymphedema Syndrome 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with CCBE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Hennekam Lymphangiectasia-Lymphedema Syndrome 1  (DOID:9003821)
  • 4 papers in RGD have been used to annotate Ccbe1


    • An association has been curated linking Ccbe1 and Hennekam Lymphangiectasia-Lymphedema Syndrome 1 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]
  • 2 RGD objects have been annotated to Hennekam Lymphangiectasia-Lymphedema Syndrome 1  (DOID:9003821)
  • 4 papers in RGD have been used to annotate Ccbe1
  • Curation Notes: ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 1
  • Original References(s): PMID:16199547 PMID:17576681 PMID:19911200 PMID:19935664 PMID:21778431 PMID:22239599 PMID:23653581 PMID:24033266 PMID:24167460 PMID:25741868 PMID:25814692 PMID:26686525 PMID:27323140 PMID:28073151 PMID:28492532 PMID:28985353 PMID:31345219 PMID:31453292 PMID:32472549 PMID:32629717 PMID:9536098


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