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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Rbpjl and T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations 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 RBPJL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 58 RGD objects have been annotated to T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations  (DOID:9000240)
  • 6 papers in RGD have been used to annotate Rbpjl
  • Curation Notes: ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
  • Original References(s): PMID:22174160 PMID:28492532


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