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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:common variable immunodeficiency 1
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Accession:DOID:0081144 term browser browse the term
Definition:A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33. (DO)
Synonyms:exact_synonym: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT;   CVID1
 primary_id: MIM:607594
 alt_id: DOID:9002425

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common variable immunodeficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi2 abl interactor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936631:30,109...101,748
Ensembl chrNW_004936631:30,199...98,511 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:1,543,263...1,711,422
Ensembl chrNW_004936726:1,543,245...1,704,541 		JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:734,269...867,709 JBrowse link
G Carf calcium responsive transcription factor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:1,958,561...2,010,972
Ensembl chrNW_004936726:1,922,060...2,010,981 		JBrowse link
G Casp10 caspase 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:460,556...489,550
Ensembl chrNW_004936726:460,518...485,624 		JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922 		JBrowse link
G Cd28 CD28 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936631:335,411...363,407
Ensembl chrNW_004936631:335,411...363,407 		JBrowse link
G Cdk15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:1,037,614...1,129,961
Ensembl chrNW_004936726:1,037,636...1,130,571 		JBrowse link
G Cflar CASP8 and FADD like apoptosis regulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:381,888...425,565
Ensembl chrNW_004936726:381,835...423,311 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Fam117b family with sequence similarity 117 member B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:1,753,318...1,846,977
Ensembl chrNW_004936726:1,753,652...1,843,405 		JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:600,213...631,513
Ensembl chrNW_004936726:600,420...625,853 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:1,256,684...1,275,324
Ensembl chrNW_004936726:1,256,678...1,275,467 		JBrowse link
G Ica1l islet cell autoantigen 1 like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:1,853,178...1,922,684
Ensembl chrNW_004936726:1,853,868...1,902,788 		JBrowse link
G Icos inducible T cell costimulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 OMIM
ClinVar		 PMID:9536098 PMID:11343122 PMID:11956294 PMID:12353035 PMID:12577056 More... NCBI chrNW_004936631:562,650...572,263
Ensembl chrNW_004936631:551,394...570,804 		JBrowse link
G LOC101964504 cytochrome P450 20A1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:2,234,611...2,295,527
Ensembl chrNW_004936726:2,235,361...2,298,775 		JBrowse link
G Mpp4 MAGUK p55 scaffold protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:893,411...938,876
Ensembl chrNW_004936726:892,550...938,969 		JBrowse link
G Nbeal1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:2,045,202...2,224,477
Ensembl chrNW_004936726:2,045,191...2,224,251 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:338,384...349,943
Ensembl chrNW_004936726:338,423...349,943 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:24140114 PMID:28492532 NCBI chrNW_004936600:3,465,016...3,471,258
Ensembl chrNW_004936600:3,465,162...3,471,205 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:1,457,038...1,487,374
Ensembl chrNW_004936726:1,457,002...1,486,530 		JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936631:100,072...196,557
Ensembl chrNW_004936631:108,310...196,563 		JBrowse link
G Stradb STE20 related adaptor beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:709,037...728,696
Ensembl chrNW_004936726:709,038...731,338 		JBrowse link
G Sumo1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:1,402,977...1,413,974
Ensembl chrNW_004936726:1,399,050...1,429,205 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:872,368...892,185
Ensembl chrNW_004936726:869,238...891,283 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chrNW_004936741:626,814...637,317 JBrowse link
G Trak2 trafficking kinesin protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:649,413...708,816
Ensembl chrNW_004936726:649,418...708,820 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chrNW_004936726:1,931,221...1,958,457
Ensembl chrNW_004936726:1,931,183...1,958,215 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14501
    syndrome 9550
      primary immunodeficiency disease 3551
        autoimmune disease 1902
          common variable immunodeficiency 226
            common variable immunodeficiency 1 29
Path 2
Term Annotations click to browse term
  disease 14501
    disease of anatomical entity 14165
      Immune & Inflammatory Diseases 4733
        immune system disease 4119
          lymphatic system disease 1516
            lymphoproliferative syndrome 944
              agammaglobulinemia 282
                common variable immunodeficiency 226
                  common variable immunodeficiency 1 29
paths to the root