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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking AHI1 and COACH syndrome 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 AHI1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to COACH syndrome  (DOID:0111589)
  • 0 papers in RGD have been used to annotate AHI1
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome with ocular defect
  • Original References(s): PMID:15322546 PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 PMID:25525159 PMID:25741868 PMID:26092869 PMID:28442542 PMID:28492532 PMID:29186038


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