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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Abca1 and familial hypercholesterolemia in Mus musculus.        

  • 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 ABCA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 48 RGD objects have been annotated to familial hypercholesterolemia  (DOID:13810)
  • 41 papers in RGD have been used to annotate Abca1
  • Curation Notes: ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
  • Original References(s): PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 PMID:28492532


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