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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Abcb6 and coloboma 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 ABCB6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 133 RGD objects have been annotated to coloboma  (DOID:12270)
  • 13 papers in RGD have been used to annotate Abcb6
  • Curation Notes: ClinVar Annotator: match by term: ocular coloboma
  • Original References(s): PMID:15142123 PMID:23180570 PMID:24281366 PMID:25741868 PMID:27151991 PMID:28492532 PMID:28971506 PMID:2998465 PMID:30187933 PMID:34201899


    • An association has been curated linking Abcb6 and coloboma 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 ABCB6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 133 RGD objects have been annotated to coloboma  (DOID:12270)
  • 13 papers in RGD have been used to annotate Abcb6
  • Curation Notes: ClinVar Annotator: match by term: Congenital ocular coloboma | ClinVar Annotator: match by term: ocular coloboma
  • Original References(s): PMID:15142123 PMID:23180570 PMID:24281366 PMID:25741868 PMID:28492532 PMID:2998465


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