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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Kmt2a and Cornelia de Lange syndrome 1 in Mus musculus.        

  • 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 KMT2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to Cornelia de Lange syndrome 1  (DOID:0080505)
  • 23 papers in RGD have been used to annotate Kmt2a
  • Curation Notes: ClinVar Annotator: match by term: Cornelia de Lange syndrome 1
  • Original References(s): PMID:25574841


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