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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Kmt2c and Kleefstra syndrome 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with KMT2C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Kleefstra syndrome 2  (DOID:0080598)
  • 22 papers in RGD have been used to annotate Kmt2c


    • An association has been curated linking Kmt2c and Kleefstra syndrome 2 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 KMT2C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Kleefstra syndrome 2  (DOID:0080598)
  • 22 papers in RGD have been used to annotate Kmt2c
  • Curation Notes: ClinVar Annotator: match by term: KMT2C-related condition | ClinVar Annotator: match by term: Kleefstra syndrome 2 | ClinVar Annotator: match by term: Kleefstra syndrome due to a point mutation
  • Original References(s): PMID:22726846 PMID:22832583 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 PMID:29069077 PMID:29276005 PMID:29926297 PMID:30352910 PMID:30981987 PMID:33619735 PMID:36672956


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