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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
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Accession:DOID:12177 term browser browse the term
Definition:An agammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. (DO)
Synonyms:exact_synonym: Acquired Hypogammaglobulinemia;   Common Variable Hypogammaglobulinemia;   Common Variable Hypogammaglobulinemias;   Common Variable Immune Deficiency;   Common Variable Immunodeficiencies;   IL21 DEFICIENCY;   Late-Onset Immunoglobulin Deficiencies;   acquired agammaglobulinemia;   acquired hypogammaglobulinemias;   common variable agammaglobulinemia;   late-onset immunoglobulin deficiency;   sporadic hypogammaglobulinemia
 narrow_synonym: COMMON VARIABLE IMMUNE DEFICIENCY, DOMINANT;   COMMON VARIABLE IMMUNE DEFICIENCY, RECESSIVE;   CVID
 primary_id: MESH:D017074
 xref: GARD:6140;   ICD10CM:D83;   ICD9CM:279.06;   NCI:C26725;   OMIM:PS607594;   ORDO:1572
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
common variable immunodeficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 1:197,815,422...197,822,123
Ensembl chr 1:197,815,413...197,821,936
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd81 Cd81 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:216,237,663...216,253,460
Ensembl chr 1:216,237,697...216,253,311
JBrowse link
G Cr2 complement C3d receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:113,890,274...113,927,824
Ensembl chr13:113,890,272...113,927,877
JBrowse link
G Dclre1c DNA cross-link repair 1C ISO DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human) RGD PMID:26476407 RGD:11251730 NCBI chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO protein:decreased expression:blood, monocyte RGD PMID:17900300 RGD:5147988 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Icos inducible T-cell co-stimulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
JBrowse link
G Il21 interleukin 21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
G Il21r interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
G Lrba LPS responsive beige-like anchor protein ISS OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767 MouseDO NCBI chr 2:185,590,983...186,110,491
Ensembl chr 2:185,524,774...186,110,495
JBrowse link
G Manba mannosidase beta ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr 2:240,668,213...240,760,264
Ensembl chr 2:240,668,195...240,760,261
JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) RGD PMID:10652157 RGD:4889436 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:227,429,241...227,441,492
Ensembl chr 1:227,429,596...227,441,442
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar Annotator: match by term: Common variable agammaglobulinemia
CTD
ClinVar
PMID:25741868 PMID:29477724 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency
CTD
ClinVar
PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28492532 PMID:28778864 PMID:29225085 PMID:30941118 NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 PMID:26457731 PMID:26996199 PMID:28492532 PMID:29772310 PMID:31334206 PMID:31388879 NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms (human) RGD PMID:10361244 RGD:5147864 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by OMIM:240500
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency 2
ClinVar
CTD
PMID:8072530 PMID:15077010 PMID:16007086 PMID:16007087 PMID:16299065 PMID:16630947 PMID:16782407 PMID:16899196 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17464555 PMID:17492055 PMID:17556024 PMID:17917015 PMID:17947292 PMID:17983875 PMID:18200502 PMID:18496551 PMID:18509552 PMID:18978466 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20006554 PMID:20156508 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21724465 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 7:123,453,799...123,456,289
Ensembl chr 7:123,453,788...123,456,268
JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr10:56,290,780...56,300,137
Ensembl chr10:56,290,780...56,300,077
JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr 6:10,912,383...11,014,279
Ensembl chr 6:10,912,383...11,014,278
JBrowse link
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcd protein kinase C, delta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III OMIM
ClinVar
PMID:11976687 PMID:23319571 PMID:23430113 PMID:23666743 PMID:25741868 PMID:28492532 PMID:30257684 NCBI chr16:6,655,131...6,675,746
Ensembl chr16:6,655,120...6,675,746
JBrowse link
Common Variable Immunodeficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Common variable immunodeficiency 1
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT
OMIM
ClinVar
PMID:11343122 PMID:12577056 PMID:15507387 PMID:19380800 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 1 ClinVar PMID:24140114 NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
JBrowse link
Common Variable Immunodeficiency 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 10 OMIM
ClinVar
PMID:16303288 PMID:22013103 PMID:24033266 PMID:24140114 PMID:24702956 PMID:24888602 PMID:25237204 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28472507 PMID:28492532 PMID:28778864 PMID:29225085 PMID:29921932 PMID:30941118 PMID:31417880 NCBI chr 1:266,050,634...266,059,277
Ensembl chr 1:266,053,002...266,059,256
JBrowse link
Common Variable Immunodeficiency 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21 interleukin 21 ISO ClinVar Annotator: match by OMIM:615767 ClinVar
OMIM
PMID:24746753 NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
Common Variable Immunodeficiency 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12
ClinVar Annotator: match by term: NFKB1 DEFICIENCY
ClinVar
OMIM
PMID:11583829 PMID:16639407 PMID:25741868 PMID:26279205 PMID:28492532 PMID:29077208 PMID:29477724 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 ClinVar NCBI chr 1:88,883,816...88,892,543
Ensembl chr 1:88,885,937...88,892,615
JBrowse link
Common Variable Immunodeficiency 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 ClinVar
OMIM
PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:28927821 PMID:31057532 PMID:31089937 NCBI chr14:91,782,281...91,867,828
Ensembl chr14:91,782,354...91,867,424
JBrowse link
Common Variable Immunodeficiency 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf2bp2 interferon regulatory factor 2 binding protein 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 14 ClinVar
OMIM
PMID:27016798 PMID:28492532 NCBI chr19:59,497,021...59,502,298
Ensembl chr19:59,499,876...59,502,161
JBrowse link
Common Variable Immunodeficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:25741868 NCBI chr13:113,890,274...113,927,824
Ensembl chr13:113,890,272...113,927,877
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Common variable immunodeficiency 2 OMIM
ClinVar
PMID:8072530 PMID:15077010 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 PMID:16630947 PMID:16782407 PMID:16899196 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17464555 PMID:17492055 PMID:17556024 PMID:17917015 PMID:17947292 PMID:17983875 PMID:18200502 PMID:18496551 PMID:18509552 PMID:18954329 PMID:18978466 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20006554 PMID:20156508 PMID:20652909 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21724465 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25569260 PMID:25741868 PMID:25959671 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27577878 PMID:28492532 PMID:29077208 PMID:29114388 PMID:29146883 PMID:29531467 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30290665 PMID:31681265 NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:123,453,799...123,456,289
Ensembl chr 7:123,453,788...123,456,268
JBrowse link
Common Variable Immunodeficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Common variable immunodeficiency 3 OMIM
ClinVar
PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:197,815,422...197,822,123
Ensembl chr 1:197,815,413...197,821,936
JBrowse link
Common Variable Immunodeficiency 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,362,471...123,376,930
Ensembl chr 7:123,364,312...123,376,221
JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,464,615...123,476,336
Ensembl chr 7:123,464,490...123,476,238
JBrowse link
G Csdc2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,168,811...123,183,336
Ensembl chr 7:123,168,811...123,183,335
JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,238,332...123,259,636
Ensembl chr 7:123,238,333...123,259,636
JBrowse link
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,308,041...123,361,391
Ensembl chr 7:123,308,041...123,361,391
JBrowse link
G Mir33 microRNA 33 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,431,612...123,431,680
Ensembl chr 7:123,431,612...123,431,680
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,095,286...123,101,851
Ensembl chr 7:123,095,288...123,101,869
JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,183,504...123,193,874
Ensembl chr 7:123,183,506...123,193,761
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,146,248...123,156,558
Ensembl chr 7:123,146,249...123,156,558
JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:122,939,266...122,967,178
Ensembl chr 7:122,940,376...122,967,178
JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,506,535...123,526,542
Ensembl chr 7:123,510,804...123,526,542
JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,440,163...123,445,613
Ensembl chr 7:123,440,163...123,445,613
JBrowse link
G Snu13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,282,754...123,287,721
Ensembl chr 7:123,282,754...123,287,721
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
JBrowse link
G Tef TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,033,971...123,058,606
Ensembl chr 7:123,043,503...123,058,604
JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 OMIM
ClinVar
PMID:19666484 PMID:21041452 PMID:25741868 PMID:28492532 NCBI chr 7:123,453,799...123,456,289
Ensembl chr 7:123,453,788...123,456,268
JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,079,520...123,088,240
Ensembl chr 7:123,079,537...123,088,279
JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,531,657...123,548,574
Ensembl chr 7:123,531,682...123,548,081
JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:123,259,881...123,280,613
Ensembl chr 7:123,259,761...123,280,612
JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:122,978,999...123,027,166
Ensembl chr 7:122,979,021...123,027,150
JBrowse link
Common Variable Immunodeficiency 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ms4a1 membrane spanning 4-domains A1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 5 OMIM
ClinVar
PMID:25741868 NCBI chr 1:227,429,241...227,441,492
Ensembl chr 1:227,429,596...227,441,442
JBrowse link
Common Variable Immunodeficiency 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd81 Cd81 molecule ISO ClinVar Annotator: match by term: Common variable immunodeficiency 6
ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 6
OMIM
ClinVar
PMID:20237408 PMID:25741868 NCBI chr 1:216,237,663...216,253,460
Ensembl chr 1:216,237,697...216,253,311
JBrowse link
Common Variable Immunodeficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar
OMIM
PMID:22035880 PMID:24033266 PMID:25741868 PMID:26325596 PMID:28492532 PMID:29867916 NCBI chr13:113,890,274...113,927,824
Ensembl chr13:113,890,272...113,927,877
JBrowse link
Common Variable Immunodeficiency 8, with Autoimmunity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity OMIM
ClinVar
PMID:22608502 PMID:24033266 PMID:25468195 PMID:25741868 PMID:25931386 PMID:26206937 PMID:26768763 PMID:27379089 PMID:28197149 PMID:28473463 PMID:28492532 PMID:29867916 PMID:30363934 PMID:31876783 NCBI chr 2:185,590,983...186,110,491
Ensembl chr 2:185,524,774...186,110,495
JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:28492532 NCBI chr 2:185,849,749...185,852,833
Ensembl chr 2:185,850,232...185,852,759
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      immune system disease 2961
        autoimmune disease 1699
          common variable immunodeficiency 48
            Common Variable Immunodeficiency 1 2
            Common Variable Immunodeficiency 10 1
            Common Variable Immunodeficiency 11 1
            Common Variable Immunodeficiency 12 2
            Common Variable Immunodeficiency 13 1
            Common Variable Immunodeficiency 14 1
            Common Variable Immunodeficiency 2 3
            Common Variable Immunodeficiency 3 1
            Common Variable Immunodeficiency 4 22
            Common Variable Immunodeficiency 5 1
            Common Variable Immunodeficiency 6 1
            Common Variable Immunodeficiency 7 1
            Common Variable Immunodeficiency 8, with Autoimmunity 2
            autoimmune lymphoproliferative syndrome type 3 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      Immune & Inflammatory Diseases 3598
        immune system disease 2961
          primary immunodeficiency disease 2381
            B cell deficiency 89
              agammaglobulinemia 63
                common variable immunodeficiency 48
                  Common Variable Immunodeficiency 1 2
                  Common Variable Immunodeficiency 10 1
                  Common Variable Immunodeficiency 11 1
                  Common Variable Immunodeficiency 12 2
                  Common Variable Immunodeficiency 13 1
                  Common Variable Immunodeficiency 14 1
                  Common Variable Immunodeficiency 2 3
                  Common Variable Immunodeficiency 3 1
                  Common Variable Immunodeficiency 4 22
                  Common Variable Immunodeficiency 5 1
                  Common Variable Immunodeficiency 6 1
                  Common Variable Immunodeficiency 7 1
                  Common Variable Immunodeficiency 8, with Autoimmunity 2
                  autoimmune lymphoproliferative syndrome type 3 1
paths to the root