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GENE - TERM ANNOTATION REPORT

21 Annotations Found.

An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Schwarz K, etal., Science. 1996 Oct 4;274(5284):97-9.
  • 5 additional annotations were made from Schwarz K, etal., Science. 1996 Oct 4;274(5284):97-9.
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Villa A, etal., Cell. 1998 May 29;93(5):885-96.
  • 5 additional annotations were made from Villa A, etal., Cell. 1998 May 29;93(5):885-96.
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: missense mutations in both genes Omenn syndrome, OMIM:179615 , OMIM:179616


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11613842 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency disease
  • Original References(s): PMID:25741868 PMID:26186701 PMID:28492532 PMID:31980526 PMID:33193364


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Zschemisch NH, etal., BMC Immunol. 2012 Nov 8;13:60. doi: 10.1186/1471-2172-13-60.
  • The annotation has been inferred from sequence orthology with Rag1 (Rattus norvegicus) [(IMP) inferred from mutant phenotype]
  • 13 additional annotations were made from Zschemisch NH, etal., BMC Immunol. 2012 Nov 8;13:60. doi: 10.1186/1471-2172-13-60.
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11645984 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe Combined Immune Deficiency


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8569714 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe Combined Immunodeficiency
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Menoret S, etal., FASEB J. 2012 Nov 12.
  • The annotation has been inferred from sequence orthology with Rag1 (Rattus norvegicus) [(IMP) inferred from mutant phenotype]
  • 19 additional annotations were made from Menoret S, etal., FASEB J. 2012 Nov 12.
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11649356 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe Combined Immune Deficiency


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11657209 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe Combined Immune Deficiency


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11665736 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe Combined Immune Deficiency


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11646626 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe Combined Immune Deficiency


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11604904 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe Combined Immune Deficiency


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8569710 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe Combined Immunodeficiency
  • Original References(s): PMID:28492532


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8569711 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency disease
  • Original References(s): PMID:24290284 PMID:28492532


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:11578494 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency disease
  • Original References(s): PMID:10891452 PMID:11121059 PMID:11313270 PMID:17572155 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24290284 PMID:24418478 PMID:25516070 PMID:26457731 PMID:27301863 PMID:28492532 PMID:9630231


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13509147 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe Combined Immune Deficiency
  • Original References(s): PMID:11133745 PMID:11520796 PMID:11908269 PMID:17075247 PMID:24144642 PMID:24290284 PMID:24406074 PMID:25516070 PMID:28492532 PMID:8810255


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8624475 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency disease
  • Original References(s): PMID:11133745 PMID:11213808 PMID:11971977 PMID:17572155 PMID:18463379 PMID:18768869 PMID:20956421 PMID:25869295 PMID:27484032 PMID:28492532


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8624466 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency disease
  • Original References(s): PMID:11133745 PMID:11313270 PMID:28492532 PMID:30778343 PMID:30877075 PMID:33365035 PMID:33628209


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8569713 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency disease
  • Original References(s): PMID:11133745 PMID:21664875 PMID:24290284 PMID:24406074 PMID:25741868 PMID:26476733 PMID:26596586 PMID:28492532 PMID:28783691 PMID:30290665


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred from electronic annotation (IEA)
  •  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1


  • An association has been curated linking RAG1 and severe combined immunodeficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8624462 (Homo sapiens)
  • 474 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 12 papers in RGD have been used to annotate RAG1
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency disease
  • Original References(s): PMID:11133745 PMID:11213808 PMID:17572155 PMID:17890453 PMID:19178939 PMID:24290284 PMID:25741868 PMID:28492532 PMID:28769923


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