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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking JAK3 and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive in Pan paniscus.        

  • 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 JAK3 (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)
  • 0 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | 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:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:11741532 PMID:11781709 PMID:14615376 PMID:16199547 PMID:16843266 PMID:17252020 PMID:17433830 PMID:17456055 PMID:17576681 PMID:17644747 PMID:18270328 PMID:18397343 PMID:18845095 PMID:19203666 PMID:19282076 PMID:20132407 PMID:20372971 PMID:20400977 PMID:20417861 PMID:21050946 PMID:21184155 PMID:21228398 PMID:21599579 PMID:21821710 PMID:21868263 PMID:22237106 PMID:22425895 PMID:23384681 PMID:23832011 PMID:24033266 PMID:24139496 PMID:24446122 PMID:24728327 PMID:25146434 PMID:25157968 PMID:25193870 PMID:25333069 PMID:25395141 PMID:25505553 PMID:25595890 PMID:25672756 PMID:25741868 PMID:25815310 PMID:26915675 PMID:27484032 PMID:27577878 PMID:27593409 PMID:28109013 PMID:28492532 PMID:28747913 PMID:28916186 PMID:29375547 PMID:30697212 PMID:31440277 PMID:31589898 PMID:32445296 PMID:33040328 PMID:33365035 PMID:7481768 PMID:7659163 PMID:9354668 PMID:9536098 PMID:9753072


    • An association has been curated linking JAK3 and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive in Pan paniscus.        

  • 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 JAK3 (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)
  • 0 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | 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:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:11741532 PMID:11781709 PMID:14615376 PMID:16199547 PMID:16843266 PMID:17252020 PMID:17433830 PMID:17456055 PMID:17576681 PMID:17644747 PMID:18270328 PMID:18397343 PMID:18845095 PMID:19203666 PMID:19282076 PMID:20132407 PMID:20372971 PMID:20400977 PMID:20417861 PMID:21050946 PMID:21184155 PMID:21228398 PMID:21599579 PMID:21821710 PMID:21868263 PMID:22237106 PMID:22425895 PMID:23384681 PMID:23832011 PMID:24033266 PMID:24139496 PMID:24446122 PMID:24728327 PMID:25146434 PMID:25157968 PMID:25193870 PMID:25333069 PMID:25395141 PMID:25505553 PMID:25595890 PMID:25672756 PMID:25741868 PMID:25815310 PMID:28109013 PMID:28492532 PMID:28916186 PMID:29375547 PMID:30697212 PMID:30778343 PMID:31440277 PMID:31589898 PMID:32445296 PMID:33040328 PMID:33365035 PMID:7481768 PMID:7659163 PMID:9354668 PMID:9536098 PMID:9753072


    • An association has been curated linking JAK3 and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive in Pan paniscus.        

  • 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 JAK3 (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)
  • 0 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | 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:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:11741532 PMID:11781709 PMID:14615376 PMID:16190968 PMID:16199547 PMID:16843266 PMID:17252020 PMID:17433830 PMID:17456055 PMID:17576681 PMID:17644747 PMID:18270328 PMID:18397343 PMID:18845095 PMID:19203666 PMID:19282076 PMID:19659508 PMID:19763152 PMID:19889552 PMID:20132407 PMID:20307669 PMID:20372971 PMID:20400977 PMID:20417861 PMID:21050946 PMID:21184155 PMID:21228398 PMID:21599579 PMID:21821710 PMID:21868263 PMID:22237106 PMID:22406018 PMID:22425895 PMID:23069490 PMID:23384681 PMID:23832011 PMID:24033266 PMID:24139496 PMID:24446122 PMID:24728327 PMID:25146434 PMID:25157968 PMID:25193870 PMID:25333069 PMID:25395141 PMID:25505553 PMID:25595890 PMID:25672756 PMID:25741868 PMID:25815310 PMID:26321643 PMID:26545580 PMID:26769277 PMID:26915675 PMID:27174491 PMID:27484032 PMID:27577878 PMID:27593409 PMID:28109013 PMID:28492532 PMID:28747913 PMID:28916186 PMID:28917720 PMID:29049190 PMID:29375547 PMID:30032486 PMID:30177960 PMID:30290665 PMID:30697212 PMID:30778343 PMID:31031743 PMID:31440277 PMID:31589898 PMID:32135276 PMID:32215810 PMID:32445296 PMID:32754152 PMID:32888943 PMID:32921793 PMID:33040328 PMID:33365035 PMID:33628209 PMID:34173127 PMID:34539671 PMID:35482138 PMID:7481768 PMID:7659163 PMID:8704236 PMID:9354668 PMID:9536098 PMID:9753072


    • An association has been curated linking JAK3 and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive in Pan paniscus.        

  • 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 JAK3 (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)
  • 0 papers in RGD have been used to annotate JAK3
  • Curation Notes: 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:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:11741532 PMID:11781709 PMID:14615376 PMID:16199547 PMID:16843266 PMID:17252020 PMID:17433830 PMID:17456055 PMID:17576681 PMID:17644747 PMID:18270328 PMID:18397343 PMID:18845095 PMID:19203666 PMID:19282076 PMID:20132407 PMID:20372971 PMID:20400977 PMID:20417861 PMID:21050946 PMID:21184155 PMID:21228398 PMID:21599579 PMID:21821710 PMID:21868263 PMID:22237106 PMID:22425895 PMID:23069490 PMID:23384681 PMID:23832011 PMID:24033266 PMID:24139496 PMID:24446122 PMID:24728327 PMID:25146434 PMID:25157968 PMID:25193870 PMID:25333069 PMID:25395141 PMID:25505553 PMID:25595890 PMID:25672756 PMID:25741868 PMID:25815310 PMID:26321643 PMID:26545580 PMID:26769277 PMID:26915675 PMID:27484032 PMID:27577878 PMID:27593409 PMID:28109013 PMID:28492532 PMID:28747913 PMID:28916186 PMID:29049190 PMID:29375547 PMID:30177960 PMID:30697212 PMID:30778343 PMID:31440277 PMID:31589898 PMID:32135276 PMID:32215810 PMID:32445296 PMID:32754152 PMID:33040328 PMID:33365035 PMID:35482138 PMID:7481768 PMID:7659163 PMID:9354668 PMID:9536098 PMID:9753072


    • An association has been curated linking JAK3 and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive in Pan paniscus.        

  • 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 JAK3 (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)
  • 0 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | 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:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:11741532 PMID:11781709 PMID:14615376 PMID:16199547 PMID:16843266 PMID:17252020 PMID:17433830 PMID:17456055 PMID:17576681 PMID:17644747 PMID:18270328 PMID:18397343 PMID:18845095 PMID:19203666 PMID:19282076 PMID:19763152 PMID:20132407 PMID:20307669 PMID:20372971 PMID:20400977 PMID:20417861 PMID:21050946 PMID:21184155 PMID:21228398 PMID:21599579 PMID:21821710 PMID:21868263 PMID:22237106 PMID:22406018 PMID:22425895 PMID:23069490 PMID:23384681 PMID:23832011 PMID:24033266 PMID:24139496 PMID:24446122 PMID:24728327 PMID:25146434 PMID:25157968 PMID:25193870 PMID:25333069 PMID:25395141 PMID:25505553 PMID:25595890 PMID:25672756 PMID:25741868 PMID:25815310 PMID:26321643 PMID:26545580 PMID:26769277 PMID:26915675 PMID:27174491 PMID:27484032 PMID:27577878 PMID:27593409 PMID:28109013 PMID:28492532 PMID:28747913 PMID:28916186 PMID:29049190 PMID:29375547 PMID:30032486 PMID:30177960 PMID:30697212 PMID:30778343 PMID:31031743 PMID:31440277 PMID:31589898 PMID:32135276 PMID:32215810 PMID:32445296 PMID:32754152 PMID:33040328 PMID:33365035 PMID:34173127 PMID:35482138 PMID:7481768 PMID:7659163 PMID:8704236 PMID:9354668 PMID:9536098 PMID:9753072


    • An association has been curated linking JAK3 and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive in Pan paniscus.        

  • 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 JAK3 (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)
  • 0 papers in RGD have been used to annotate JAK3
  • Curation Notes: 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:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:11741532 PMID:11781709 PMID:14615376 PMID:16190968 PMID:16199547 PMID:16843266 PMID:17252020 PMID:17433830 PMID:17456055 PMID:17576681 PMID:17644747 PMID:18270328 PMID:18397343 PMID:18641513 PMID:18845095 PMID:19203666 PMID:19282076 PMID:19659508 PMID:19763152 PMID:19889552 PMID:20132407 PMID:20307669 PMID:20372971 PMID:20400977 PMID:20417861 PMID:21050946 PMID:21184155 PMID:21228398 PMID:21599579 PMID:21821710 PMID:21868263 PMID:22237106 PMID:22406018 PMID:22425895 PMID:23069490 PMID:23384681 PMID:23832011 PMID:24033266 PMID:24139496 PMID:24446122 PMID:24728327 PMID:25146434 PMID:25157968 PMID:25193870 PMID:25333069 PMID:25395141 PMID:25505553 PMID:25595890 PMID:25672756 PMID:25741868 PMID:25815310 PMID:26321643 PMID:26545580 PMID:26769277 PMID:26915675 PMID:27174491 PMID:27484032 PMID:27577878 PMID:27593409 PMID:28109013 PMID:28492532 PMID:28747913 PMID:28916186 PMID:28917720 PMID:29049190 PMID:29375547 PMID:30032486 PMID:30177960 PMID:30290665 PMID:30697212 PMID:30778343 PMID:31031743 PMID:31440277 PMID:31589898 PMID:32135276 PMID:32215810 PMID:32373116 PMID:32445296 PMID:32754152 PMID:32888943 PMID:32921793 PMID:33040328 PMID:33365035 PMID:33628209 PMID:34173127 PMID:34539671 PMID:35482138 PMID:7481768 PMID:7659163 PMID:8704236 PMID:9354668 PMID:9536098 PMID:9753072


    • An association has been curated linking JAK3 and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive in Pan paniscus.        

  • 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 JAK3 (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)
  • 0 papers in RGD have been used to annotate JAK3
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | 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:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:11741532 PMID:11781709 PMID:14615376 PMID:16190968 PMID:16199547 PMID:16843266 PMID:17252020 PMID:17433830 PMID:17456055 PMID:17576681 PMID:17644747 PMID:18270328 PMID:18397343 PMID:18641513 PMID:18845095 PMID:19203666 PMID:19282076 PMID:19659508 PMID:19763152 PMID:19889552 PMID:20132407 PMID:20307669 PMID:20400977 PMID:20417861 PMID:21050946 PMID:21184155 PMID:21228398 PMID:21599579 PMID:21821710 PMID:21868263 PMID:22237106 PMID:22406018 PMID:22425895 PMID:23069490 PMID:23384681 PMID:23832011 PMID:24033266 PMID:24139496 PMID:24446122 PMID:24728327 PMID:25146434 PMID:25193870 PMID:25333069 PMID:25395141 PMID:25505553 PMID:25595890 PMID:25672756 PMID:25741868 PMID:25815310 PMID:26321643 PMID:26545580 PMID:26769277 PMID:26915675 PMID:27174491 PMID:27484032 PMID:27577878 PMID:27593409 PMID:28109013 PMID:28492532 PMID:28747913 PMID:28916186 PMID:28917720 PMID:29049190 PMID:29375547 PMID:30032486 PMID:30177960 PMID:30290665 PMID:30697212 PMID:30778343 PMID:31031743 PMID:31440277 PMID:31589898 PMID:32135276 PMID:32215810 PMID:32373116 PMID:32445296 PMID:32754152 PMID:32888943 PMID:32921793 PMID:33040328 PMID:33365035 PMID:33628209 PMID:34173127 PMID:34539671 PMID:35482138 PMID:7481768 PMID:7659163 PMID:8704236 PMID:9354668 PMID:9536098 PMID:9753072


    • An association has been curated linking JAK3 and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive in Pan paniscus.        

  • 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 JAK3 (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)
  • 0 papers in RGD have been used to annotate JAK3
  • 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:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:11741532 PMID:11781709 PMID:14615376 PMID:15644840 PMID:16190968 PMID:16199547 PMID:16843266 PMID:17252020 PMID:17433830 PMID:17456055 PMID:17576681 PMID:17644747 PMID:18270328 PMID:18397343 PMID:18641513 PMID:18845095 PMID:19203666 PMID:19282076 PMID:19659508 PMID:19763152 PMID:19889552 PMID:20132407 PMID:20307669 PMID:20400977 PMID:20417861 PMID:21050946 PMID:21184155 PMID:21228398 PMID:21599579 PMID:21821710 PMID:21868263 PMID:22237106 PMID:22406018 PMID:22425895 PMID:23069490 PMID:23384681 PMID:23832011 PMID:24033266 PMID:24139496 PMID:24446122 PMID:24728327 PMID:25146434 PMID:25193870 PMID:25333069 PMID:25395141 PMID:25505553 PMID:25595890 PMID:25672756 PMID:25741868 PMID:25815310 PMID:26321643 PMID:26545580 PMID:26769277 PMID:26915675 PMID:27174491 PMID:27484032 PMID:27577878 PMID:27593409 PMID:28109013 PMID:28492532 PMID:28747913 PMID:28916186 PMID:28917720 PMID:29049190 PMID:29375547 PMID:30032486 PMID:30177960 PMID:30290665 PMID:30293248 PMID:30697212 PMID:30778343 PMID:31031743 PMID:31440277 PMID:31589898 PMID:32135276 PMID:32215810 PMID:32373116 PMID:32445296 PMID:32754152 PMID:32888943 PMID:32921793 PMID:33040328 PMID:33365035 PMID:33628209 PMID:34173127 PMID:34539671 PMID:35482138 PMID:7481768 PMID:7659163 PMID:8704236 PMID:9354668 PMID:9536098 PMID:9753072


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