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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Abcd3 and congenital bile acid synthesis defect 5 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 ABCD3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital bile acid synthesis defect 5  (DOID:0111066)
  • 21 papers in RGD have been used to annotate Abcd3


  • An association has been curated linking Abcd3 and congenital bile acid synthesis defect 5 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 ABCD3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital bile acid synthesis defect 5  (DOID:0111066)
  • 21 papers in RGD have been used to annotate Abcd3
  • Curation Notes: ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 5
  • Original References(s): PMID:25168382


  • An association has been curated linking Abcd3 and congenital bile acid synthesis defect 5 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 ABCD3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital bile acid synthesis defect 5  (DOID:0111066)
  • 21 papers in RGD have been used to annotate Abcd3
  • Curation Notes: ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 5
  • Original References(s): PMID:25741868


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