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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Knstrn and Roifman-Chitayat Syndrome 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 KNSTRN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Roifman-Chitayat Syndrome  (DOID:9000886)
  • 7 papers in RGD have been used to annotate Knstrn


    • An association has been curated linking Knstrn and Roifman-Chitayat 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 KNSTRN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Roifman-Chitayat Syndrome  (DOID:9000886)
  • 7 papers in RGD have been used to annotate Knstrn
  • Curation Notes: ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic
  • Original References(s): PMID:19863561 PMID:29180244


    • An association has been curated linking Knstrn and Roifman-Chitayat Syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with KNSTRN (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Roifman-Chitayat Syndrome  (DOID:9000886)
  • 7 papers in RGD have been used to annotate Knstrn
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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