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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Il2rg and X-linked severe combined immunodeficiency 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 IL2RG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to X-linked severe combined immunodeficiency  (DOID:0060013)
  • 15 papers in RGD have been used to annotate Il2rg


    • An association has been curated linking Il2rg and X-linked severe combined immunodeficiency in Rattus norvegicus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Mashimo T, etal., PLoS One. 2010 Jan 25;5(1):e8870.
  • 16 additional annotations were made from Mashimo T, etal., PLoS One. 2010 Jan 25;5(1):e8870.
  • 12 RGD objects have been annotated to X-linked severe combined immunodeficiency  (DOID:0060013)
  • 15 papers in RGD have been used to annotate Il2rg


    • An association has been curated linking Il2rg 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 IL2RG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to X-linked severe combined immunodeficiency  (DOID:0060013)
  • 15 papers in RGD have been used to annotate Il2rg
  • Curation Notes: ClinVar Annotator: match by term: X-linked severe combined immunodeficiency
  • Original References(s): PMID:10444186 PMID:10784449 PMID:10792291 PMID:10794430 PMID:10794431 PMID:11129345 PMID:11213805 PMID:11260071 PMID:11874464 PMID:11961146 PMID:12070011 PMID:12126929 PMID:14722921 PMID:14966353 PMID:16199547 PMID:16227049 PMID:16293754 PMID:16760466 PMID:17576681 PMID:17598841 PMID:18615703 PMID:18641513 PMID:18688286 PMID:18728247 PMID:18941169 PMID:19398866 PMID:20301584 PMID:21184155 PMID:2169613 PMID:21732012 PMID:21865537 PMID:22039266 PMID:23250629 PMID:23374275 PMID:23683512 PMID:24534054 PMID:24612091 PMID:25042067 PMID:25109802 PMID:25326637 PMID:25741868 PMID:25843602 PMID:25869287 PMID:26525228 PMID:26547715 PMID:27484032 PMID:27566612 PMID:28109013 PMID:28359783 PMID:28492532 PMID:28747913 PMID:29658452 PMID:2984567 PMID:29948574 PMID:30290665 PMID:30622570 PMID:30778380 PMID:30850927 PMID:31024866 PMID:31031743 PMID:31799703 PMID:31965297 PMID:32265911 PMID:32499645 PMID:32888943 PMID:33412294 PMID:33628209 PMID:34060650 PMID:35874699 PMID:7557965 PMID:7632950 PMID:7668284 PMID:7683423 PMID:7860773 PMID:7883965 PMID:7973658 PMID:7973659 PMID:8027558 PMID:8088810 PMID:8298124 PMID:8299698 PMID:8401490 PMID:8462096 PMID:8522327 PMID:8541866 PMID:8557662 PMID:8605324 PMID:8712778 PMID:8781427 PMID:8900089 PMID:8961626 PMID:9049783 PMID:9058718 PMID:9150730 PMID:9150740 PMID:9399950 PMID:9536098 PMID:9633906 PMID:9885222


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