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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Med12 and X-linked severe combined immunodeficiency 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 MED12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to X-linked severe combined immunodeficiency  (DOID:0060013)
  • 14 papers in RGD have been used to annotate Med12
  • Curation Notes: ClinVar Annotator: match by term: X-linked severe combined immunodeficiency
  • Original References(s): PMID:28492532


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