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GENE - TERM ANNOTATION REPORT

35 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 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]
  • 5 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:8401490


  • 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]
  • 5 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:28492532


  • 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]
  • 5 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]
  • 5 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:10792291 PMID:21184155 PMID:25741868 PMID:28492532 PMID:28747913 PMID:9049783 PMID:9058718 PMID:9633906


  • 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]
  • 5 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:10794431 PMID:28492532 PMID:9633906


  • 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]
  • 5 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:19398866 PMID:28492532


  • 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]
  • 5 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:21184155 PMID:22039266 PMID:28492532 PMID:7557965 PMID:9058718 PMID:9150740


  • 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]
  • 5 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:7860773


  • 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]
  • 5 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:28492532 PMID:28747913 PMID:9058718


  • 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]
  • 5 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:12126929 PMID:28492532 PMID:7883965 PMID:7973658


  • 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.
  • 5 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]
  • 5 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


  • 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]
  • 5 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:18941169 PMID:2984567


  • 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]
  • 5 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:10784449 PMID:11213805 PMID:11961146 PMID:18641513 PMID:18941169 PMID:7557965 PMID:7668284 PMID:8027558 PMID:8462096 PMID:8712778 PMID:8781427 PMID:8961626 PMID:9058718 PMID:9150730


  • 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]
  • 5 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:11213805 PMID:16760466 PMID:17598841 PMID:21184155 PMID:22039266 PMID:28492532 PMID:9058718


  • 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]
  • 5 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:8900089


  • 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]
  • 5 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:11129345 PMID:25326637 PMID:8557662 PMID:8961626


  • 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]
  • 5 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:18728247 PMID:8900089


  • 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]
  • 5 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:8961626


  • 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]
  • 5 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:18941169


  • 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]
  • 5 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:10794430 PMID:28492532


  • 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]
  • 5 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:10794430 PMID:28492532 PMID:28747913 PMID:29658452 PMID:9058718


  • 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]
  • 5 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:26525228 PMID:28492532


  • 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]
  • 5 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:14966353 PMID:18641513 PMID:2169613 PMID:22039266 PMID:23683512 PMID:25741868 PMID:25869287 PMID:28492532 PMID:28747913 PMID:7632950 PMID:7668284 PMID:8961626 PMID:9058718


  • 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]
  • 5 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:28492532 PMID:8027558 PMID:9885222


  • 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]
  • 5 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:10794430 PMID:28492532 PMID:9058718


  • 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]
  • 5 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:25741868


  • 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]
  • 5 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:11129345 PMID:12070011 PMID:23374275 PMID:7557965 PMID:8522327 PMID:9058718


  • 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]
  • 5 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:11129345 PMID:24534054 PMID:25741868 PMID:28492532 PMID:8088810


  • 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]
  • 5 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:18615703


  • 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]
  • 5 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:10794430 PMID:14722921 PMID:18641513


  • 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]
  • 5 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:28492532 PMID:9633906


  • 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]
  • 5 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:17576681 PMID:28492532 PMID:30850927 PMID:9536098


  • 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]
  • 5 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:28492532 PMID:9058718


  • 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]
  • 5 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:17576681 PMID:28492532 PMID:9536098


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