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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Rag1 and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive in Chinchilla lanigera.        

  • 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 RAG1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  (DOID:0090013)
  • 2 papers in RGD have been used to annotate Rag1


  • An association has been curated linking Rag1 and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive in Chinchilla lanigera.        

  • 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 RAG1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  (DOID:0090013)
  • 2 papers in RGD have been used to annotate Rag1
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
  • Original References(s): PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:16276422 PMID:16960852 PMID:17572155 PMID:17890453 PMID:18592361 PMID:18701881 PMID:19178939 PMID:19246248 PMID:19912631 PMID:20956421 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24033266 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:25516070 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26457731 PMID:26476733 PMID:26596586 PMID:27301863 PMID:27609655 PMID:28083621 PMID:28492532 PMID:28769923 PMID:28783691 PMID:290284 PMID:29107076 PMID:30290665 PMID:30307608 PMID:31503426 PMID:32447396 PMID:8810255 PMID:9630231


  • An association has been curated linking Rag1 and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive in Chinchilla lanigera.        

  • 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 RAG1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  (DOID:0090013)
  • 2 papers in RGD have been used to annotate Rag1
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
  • Original References(s): PMID:10891452 PMID:11133745 PMID:11313270 PMID:11520796 PMID:16276422 PMID:16960852 PMID:17572155 PMID:18701881 PMID:19178939 PMID:19458910 PMID:19912631 PMID:20956421 PMID:21184155 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24033266 PMID:24122031 PMID:24290284 PMID:24406074 PMID:24418478 PMID:25516070 PMID:25741868 PMID:25869295 PMID:25976673 PMID:26457731 PMID:26476733 PMID:26596586 PMID:27301863 PMID:27609655 PMID:28492532 PMID:28783691 PMID:290284 PMID:29107076 PMID:30290665 PMID:31503426 PMID:32447396 PMID:8810255 PMID:9630231


  • An association has been curated linking Rag1 and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive in Chinchilla lanigera.        

  • 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 RAG1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  (DOID:0090013)
  • 2 papers in RGD have been used to annotate Rag1
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
  • Original References(s): PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17572155 PMID:17890453 PMID:18592361 PMID:18701881 PMID:19011808 PMID:19178939 PMID:19246248 PMID:19912631 PMID:20956421 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24033266 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:25516070 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26457731 PMID:26476733 PMID:26596586 PMID:27301863 PMID:27609655 PMID:28083621 PMID:28492532 PMID:28769923 PMID:28783691 PMID:290284 PMID:29107076 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30877075 PMID:31503426 PMID:32445296 PMID:32447396 PMID:33365035 PMID:33628209 PMID:8810255 PMID:9630231


  • An association has been curated linking Rag1 and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive in Chinchilla lanigera.        

  • 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 RAG1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  (DOID:0090013)
  • 2 papers in RGD have been used to annotate Rag1
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
  • Original References(s): PMID:10606976 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:14670978 PMID:15696198 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17176792 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18223550 PMID:18442948 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19011808 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19458910 PMID:19830075 PMID:19912631 PMID:20109747 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:23891352 PMID:24033266 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24472623 PMID:24985406 PMID:25516070 PMID:25707801 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26689875 PMID:2682973 PMID:26829731 PMID:27095930 PMID:27301863 PMID:27484032 PMID:27609655 PMID:27713031 PMID:2808362 PMID:28083621 PMID:28109013 PMID:28216420 PMID:28492532 PMID:28623282 PMID:28747913 PMID:28769923 PMID:28783691 PMID:290284 PMID:29107076 PMID:30046960 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 PMID:31031743 PMID:31503426 PMID:31632441 PMID:32000930 PMID:32373116 PMID:32445296 PMID:32447396 PMID:32655540 PMID:32670274 PMID:32888943 PMID:33193364 PMID:33365035 PMID:33628209 PMID:34224223 PMID:34664192 PMID:35281013 PMID:35303369 PMID:8810255 PMID:9630231


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