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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 chrNW_004955467:141,592...162,376
Ensembl chrNW_004955467:140,760...162,742 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,104,445...11,128,980
Ensembl chrNW_004955478:11,105,920...11,128,222 		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 chrNW_004955478:11,249,073...11,264,249
Ensembl chrNW_004955478:11,248,781...11,267,158 		JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:405,487...415,887
Ensembl chrNW_004955467:405,490...416,116 		JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955493:6,540,160...6,544,077 JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:639,616...664,390
Ensembl chrNW_004955577:638,749...664,390 		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 chrNW_004955406:42,877,041...42,910,970
Ensembl chrNW_004955406:42,876,966...42,911,564 		JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,193,245...11,210,917
Ensembl chrNW_004955478:11,193,245...11,210,914 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:419,342...505,909
Ensembl chrNW_004955467:419,289...506,092 		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 chrNW_004955467:594,921...623,661
Ensembl chrNW_004955467:595,490...623,566 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:672,774...694,140
Ensembl chrNW_004955577:672,410...694,140 		JBrowse link
G Flii FLII actin remodeling protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,061,728...11,075,370
Ensembl chrNW_004955478:11,062,707...11,075,117 		JBrowse link
G Gid4 GID complex subunit 4 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,223,083...11,242,986
Ensembl chrNW_004955478:11,226,449...11,243,935 		JBrowse link
G Grap GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:559,411...581,098
Ensembl chrNW_004955467:559,397...581,098 		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 chrNW_004955478:11,075,399...11,089,818
Ensembl chrNW_004955478:11,075,399...11,089,839 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:381,801...387,078
Ensembl chrNW_004955467:378,156...386,532 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:455,879...470,126
Ensembl chrNW_004955577:454,715...470,152 		JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:378,389...381,593
Ensembl chrNW_004955467:377,887...381,593 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,056,489...11,063,142
Ensembl chrNW_004955478:11,057,462...11,061,852 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:705,435...838,948
Ensembl chrNW_004955577:705,435...838,948 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,131,908...11,186,465
Ensembl chrNW_004955478:11,132,719...11,186,378 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:582,206...608,614 JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:365,031...443,138
Ensembl chrNW_004955577:367,288...443,138 		JBrowse link
G Pld6 phospholipase D family member 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:698,741...702,977 JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase associated protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:676,845...722,175
Ensembl chrNW_004955467:676,195...722,233 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:185,404...296,613
Ensembl chrNW_004955577:183,051...200,139 		JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955577:452,993...454,659
Ensembl chrNW_004955577:452,993...454,713 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:349,703...355,922
Ensembl chrNW_004955467:349,256...355,922 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:10,972,791...11,001,535
Ensembl chrNW_004955478:10,978,139...11,001,202 		JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955467:581,120...654,441
Ensembl chrNW_004955467:581,129...654,639 		JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,002,174...11,015,123
Ensembl chrNW_004955478:11,002,174...11,015,123 		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 chrNW_004955577:171,425...183,669
Ensembl chrNW_004955577:171,425...186,046 		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 chrNW_004955577:930,612...971,698 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 chrNW_004955413:27,341,977...27,344,009 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 chrNW_004955577:93,877...153,381
Ensembl chrNW_004955577:93,480...153,437 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chrNW_004955478:11,015,378...11,045,717
Ensembl chrNW_004955478:11,015,378...11,045,717 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14030
      immune system disease 4283
        autoimmune disease 1908
          common variable immunodeficiency 220
            common variable immunodeficiency 2 36
Path 2
Term Annotations click to browse term
  disease 14336
    Developmental Disease 12608
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11871
        genetic disease 11599
          monogenic disease 9961
            autosomal genetic disease 9565
              autosomal recessive disease 6507
                common variable immunodeficiency 220
                  common variable immunodeficiency 2 36
paths to the root