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1 Annotations Found.

An association has been curated linking Chat and congenital myasthenic syndrome 4C in Rattus norvegicus.        

  • 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 CHAT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to congenital myasthenic syndrome 4C  (DOID:0110679)
  • 27 papers in RGD have been used to annotate Chat
  • Curation Notes: ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
  • Original References(s): PMID:25741868

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