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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ctps1 and immunodeficiency 24 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 CTPS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to immunodeficiency 24  (DOID:0111938)
  • 11 papers in RGD have been used to annotate Ctps1


  • An association has been curated linking Ctps1 and immunodeficiency 24 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 CTPS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to immunodeficiency 24  (DOID:0111938)
  • 11 papers in RGD have been used to annotate Ctps1
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency
  • Original References(s): PMID:16199547 PMID:17576681 PMID:24033266 PMID:24870241 PMID:25741868 PMID:27638562 PMID:28492532 PMID:32161190 PMID:9536098


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