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GENE - TERM ANNOTATION REPORT

23 Annotations Found.

An association has been curated linking JAK3 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:401797315 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:15644840 PMID:30293248


    • An association has been curated linking JAK3 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:13518006 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency


    • An association has been curated linking JAK3 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:13442712 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking JAK3 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:8602904 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:17433830 PMID:21184155 PMID:28492532 PMID:30697212 PMID:33365035 PMID:9753072


    • An association has been curated linking JAK3 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:8636686 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:11668621 PMID:28492532 PMID:30778343 PMID:35482138 PMID:7481768


    • An association has been curated linking JAK3 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:8602905 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:10900158 PMID:10982185 PMID:11668610 PMID:14615376 PMID:17433830 PMID:23384681 PMID:25741868 PMID:28492532 PMID:32754152 PMID:9354668


    • An association has been curated linking JAK3 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:11649041 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency


    • An association has been curated linking JAK3 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:8602907 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:17644747 PMID:25146434 PMID:28492532


    • An association has been curated linking JAK3 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:8602906 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking JAK3 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:11665242 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency


    • An association has been curated linking JAK3 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:11631301 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency


    • An association has been curated linking JAK3 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:11631993 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking JAK3 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:11658407 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency


    • An association has been curated linking JAK3 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:8602908 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:19203666 PMID:28492532


    • An association has been curated linking JAK3 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:8602909 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:28492532


    • An association has been curated linking JAK3 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:11666316 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency


    • An association has been curated linking JAK3 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:12840878 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:18559588


    • An association has been curated linking JAK3 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:11634880 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency


    • An association has been curated linking JAK3 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:11664630 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency


    • An association has been curated linking JAK3 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 human HPO-to-gene-to-disease annotations
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Original References(s): OMIM:600802


    • An association has been curated linking JAK3 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:401867279 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:21184155


    • An association has been curated linking JAK3 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:8602910 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking JAK3 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:8602912 (Homo sapiens)
  • 44 RGD objects have been annotated to Severe combined immunodeficiency  (HP:0004430)
  • 32 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency
  • Original References(s): PMID:11668621 PMID:23384681 PMID:25741868 PMID:28492532 PMID:34173127 PMID:7481768


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