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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Kmt2a and Wiedemann-Steiner 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 KMT2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Wiedemann-Steiner syndrome  (DOID:9002112)
  • 18 papers in RGD have been used to annotate Kmt2a


    • An association has been curated linking Kmt2a and Wiedemann-Steiner 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 KMT2A (Homo sapiens) [(EXP) inferred from experiment]
  • 4 RGD objects have been annotated to Wiedemann-Steiner syndrome  (DOID:9002112)
  • 18 papers in RGD have been used to annotate Kmt2a
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Kmt2a and Wiedemann-Steiner 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 KMT2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Wiedemann-Steiner syndrome  (DOID:9002112)
  • 18 papers in RGD have been used to annotate Kmt2a
  • Curation Notes: ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18414213 PMID:22795537 PMID:24088041 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25574841 PMID:25724810 PMID:25741868 PMID:25741869 PMID:25741915 PMID:25741916 PMID:25810209 PMID:26633545 PMID:26690532 PMID:27441994 PMID:27959697 PMID:28120103 PMID:28330790 PMID:28492532 PMID:28600779 PMID:29203834 PMID:29255178 PMID:29276005 PMID:29276034 PMID:29453417 PMID:29574747 PMID:30305169 PMID:30315573 PMID:30549396 PMID:31157197 PMID:31337854 PMID:31785789 PMID:32860008 PMID:33004838 PMID:33043602 PMID:33783954 PMID:37025457 PMID:38177409 PMID:5519603 PMID:9536098


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