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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking EDN3 and congenital central hypoventilation 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 EDN3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to congenital central hypoventilation syndrome  (DOID:0060731)
  • 0 papers in RGD have been used to annotate EDN3
  • Curation Notes: ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome
  • Original References(s): PMID:19556619 PMID:24033266 PMID:25741868 PMID:28492532 PMID:8696331


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