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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 2
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Accession:DOID:0081145 term browser browse the term
Definition:A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2. (DO)
Synonyms:exact_synonym: ANTIBODY DEFICIENCY DUE TO TACI DEFECT;   CVID2;   HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY
 alt_id: DOID:9007351
 xref: MIM:240500;   MONDO:0009413


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common variable immunodeficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:31,455,386...31,482,985
Ensembl chr17:36,599,835...36,628,102 		JBrowse link
G ALKBH5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:32,725,632...32,753,021
Ensembl chr17:38,003,362...38,030,715 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:33,256,239...33,280,360
Ensembl chr17:38,203,888...38,224,911 		JBrowse link
G B9D1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:31,735,065...31,779,454
Ensembl chr17:36,914,969...36,941,391 		JBrowse link
G CD19 CD19 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 Ensembl chr16:29,320,734...29,327,481 JBrowse link
G COPS3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:34,013,180...34,047,546
Ensembl chr17:38,944,618...38,978,235 		JBrowse link
G CR2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:183,052,798...183,088,385
Ensembl chr 1:187,330,483...187,366,069 		JBrowse link
G DRC3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:33,278,528...33,324,351
Ensembl chr17:38,226,305...38,272,013 		JBrowse link
G EPN2 epsin 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:31,777,430...31,874,469
Ensembl chr17:36,942,381...37,038,509 		JBrowse link
G FAM83G family with sequence similarity 83 member G ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:32,237,065...32,273,015
Ensembl chr17:37,169,509...37,204,872 		JBrowse link
G FBXW10 F-box and WD repeat domain containing 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532
G FLCN folliculin ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:34,057,127...34,081,637
Ensembl chr17:38,988,518...39,013,160 		JBrowse link
G FLII FLII actin remodeling protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:32,789,717...32,803,661
Ensembl chr17:37,949,994...37,965,414 		JBrowse link
G GID4 GID complex subunit 4 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:33,226,374...33,256,146 JBrowse link
G GRAP GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:32,215,214...32,219,802 JBrowse link
G LLGL1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:32,770,511...32,789,756
Ensembl chr17:37,966,100...37,985,103 		JBrowse link
G LOC100971960 unconventional myosin-XV ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:32,661,499...32,723,320 JBrowse link
G LOC100994060 developmentally-regulated GTP-binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:33,187,571...33,206,833 JBrowse link
G MAPK7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:31,729,429...31,736,216
Ensembl chr17:36,894,146...36,899,969 		JBrowse link
G MED9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:33,802,916...33,819,107
Ensembl chr17:38,749,397...38,765,618 		JBrowse link
G MFAP4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:31,725,732...31,729,528
Ensembl chr17:36,890,778...36,893,230 		JBrowse link
G MIEF2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:32,805,453...32,810,668
Ensembl chr17:37,944,215...37,949,451 		JBrowse link
G MPRIP myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:34,101,451...34,251,475
Ensembl chr17:39,040,719...39,182,578 		JBrowse link
G NT5M 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:33,948,270...33,991,485 JBrowse link
G PEMT phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:33,703,800...33,790,470
Ensembl chr17:38,651,024...38,737,202 		JBrowse link
G PLD6 phospholipase D family member 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:34,084,634...34,091,470
Ensembl chr17:39,016,859...39,023,398 		JBrowse link
G PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:32,316,289...32,392,531
Ensembl chr17:37,247,504...37,320,704 		JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:33,484,543...33,614,608
Ensembl chr17:38,431,946...38,461,861 		JBrowse link
G RASD1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:33,799,204...33,801,652
Ensembl chr17:38,744,157...38,748,134 		JBrowse link
G RNF112 ring finger protein 112 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:31,688,381...31,701,675
Ensembl chr17:36,860,202...36,894,877 		JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:32,870,949...32,905,690
Ensembl chr17:37,849,206...37,884,220 		JBrowse link
G SLC47A1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:31,532,821...31,577,523
Ensembl chr17:36,695,965...36,741,618 		JBrowse link
G SLC5A10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:32,219,877...32,289,598
Ensembl chr17:37,152,047...37,221,554 		JBrowse link
G SMCR8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:32,858,205...32,871,132
Ensembl chr17:37,884,037...37,896,972 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 OMIM
ClinVar		 PMID:8072530 PMID:9536098 PMID:16007086 PMID:16007087 PMID:16199547 More... NCBI chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053 		JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:22,816,504...22,819,584 JBrowse link
G TOM1L2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:33,324,590...33,451,688
Ensembl chr17:38,272,362...38,399,178 		JBrowse link
G TOP3A DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr17:32,814,448...32,858,076
Ensembl chr17:37,897,037...37,936,135 		JBrowse link
G TVP23B trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15838
    disease of anatomical entity 15494
      immune system disease 4708
        autoimmune disease 2084
          common variable immunodeficiency 239
            common variable immunodeficiency 2 40
Path 2
Term Annotations click to browse term
  disease 15838
    Developmental Disease 13862
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12952
        genetic disease 12652
          monogenic disease 10862
            autosomal genetic disease 10401
              autosomal recessive disease 7111
                common variable immunodeficiency 239
                  common variable immunodeficiency 2 40
paths to the root