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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Akr1d1 and congenital bile acid synthesis defect in Ictidomys tridecemlineatus.        

  • 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 AKR1D1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to congenital bile acid synthesis defect  (DOID:0050674)
  • 0 papers in RGD have been used to annotate Akr1d1
  • Curation Notes: ClinVar Annotator: match by term: Congenital bile acid synthesis defect


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