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1 Annotations Found.

An association has been curated linking Kmt2d and CHARGE syndrome 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 KMT2D (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to CHARGE syndrome  (DOID:0050834)
  • 12 papers in RGD have been used to annotate Kmt2d
  • Curation Notes: ClinVar Annotator: match by term: CHARGE association
  • Original References(s): PMID:29300383

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