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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking AMACR and congenital bile acid synthesis defect 4 in Sus scrofa.        

  • 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 AMACR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to congenital bile acid synthesis defect 4  (DOID:0111068)
  • 0 papers in RGD have been used to annotate AMACR


  • An association has been curated linking AMACR and congenital bile acid synthesis defect 4 in Sus scrofa.        

  • 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 AMACR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to congenital bile acid synthesis defect 4  (DOID:0111068)
  • 0 papers in RGD have been used to annotate AMACR
  • Curation Notes: ClinVar Annotator: match by term: AMACR-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 4
  • Original References(s): PMID:10655068 PMID:12438241 PMID:12512044 PMID:15249642 PMID:18032455 PMID:20818383 PMID:20821052 PMID:21576695 PMID:21686617 PMID:25133958 PMID:25741868 PMID:28492532 PMID:30369941 PMID:9584266


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