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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:agammaglobulinemia
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Accession:DOID:2583 term browser browse the term
Definition:A B cell deficiency that is caused by a reduction in all types of gamma globulins. (DO)
Synonyms:exact_synonym: agammaglobulinemias;   hypogammaglobulinemia;   hypogammaglobulinemias;   mu heavy chain deficiency
 narrow_synonym: IGHM
 primary_id: MESH:D000361
 xref: ICD10CM:D80.1;   ICD9CM:279.00;   NCI:C26931;   OMIM:PS601495
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blnk B-cell linker susceptibility ISO DNA:splice-site mutation
CTD Direct Evidence: marker/mechanism		 CTD PMID:10583958 RGD:1600518 NCBI chr 1:260,187,023...260,254,490
Ensembl chr 1:260,186,967...260,254,600 		JBrowse link
G Btk Bruton tyrosine kinase susceptibility ISO DNA:insertions, point mutations
ClinVar Annotator: match by term: Agammaglobulinemia
CTD Direct Evidence: therapeutic		 ClinVar
CTD		 PMID:10352268 PMID:15142874, PMID:8162018 RGD:1600526 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580 		JBrowse link
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 Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:81,763,609...81,768,039
Ensembl chr 1:81,763,614...81,767,980 		JBrowse link
G Cd79b CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591 		JBrowse link
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660746 RGD:1599837 NCBI chr 3:8,801,544...8,829,506
Ensembl chr 3:8,802,852...8,828,533 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISS OMIM:601495 | OMIM:612692 | OMIM:613500 | OMIM:613501 | OMIM:613502 | OMIM:613506 | OMIM:615214 MouseDO NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Hypogammaglobulinemia ClinVar PMID:25741868 PMID:28782633 NCBI chr 4:120,453,577...120,467,932
Ensembl chr 4:120,453,581...120,467,932 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410 		JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency
ClinVar Annotator: match by term: SCID DUE TO ADA DEFICIENCY, EARLY-ONSET
ClinVar Annotator: match by OMIM:102700
ClinVar Annotator: match by synonym: SCID due to ADA deficiency, delayed onset		 OMIM
ClinVar		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1680289 PMID:1696926 PMID:1974554 PMID:2166947 PMID:2651461 PMID:2758612 PMID:2773932 PMID:2783588 PMID:3007108 PMID:3182793 PMID:3366897 PMID:3475710 PMID:3684597 PMID:3839802 PMID:6208479 PMID:7554472 PMID:7599635 PMID:8023852 PMID:8031011 PMID:8051429 PMID:8120281 PMID:8178821 PMID:8227344 PMID:8258146 PMID:8299233 PMID:8401541 PMID:8589684 PMID:8614422 PMID:8673127 PMID:9108404 PMID:9225964 PMID:9361033 PMID:9414266 PMID:9616253 PMID:9758612 PMID:9806422 PMID:10200056 PMID:11067872 PMID:11160213 PMID:11313286 PMID:11354825 PMID:11807006 PMID:14499267 PMID:16276484 PMID:16825284 PMID:17181544 PMID:17185467 PMID:18952502 PMID:19179314 PMID:19665771 PMID:19830125 PMID:20544538 PMID:21228398 PMID:21410451 PMID:21624848 PMID:21664875 PMID:21865538 PMID:22409989 PMID:22447032 PMID:22764473 PMID:22968453 PMID:23260757 PMID:24033266 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25875700 PMID:25954555 PMID:26255240 PMID:26376800 PMID:27095930 PMID:27129325 PMID:27484032 PMID:27872624 PMID:28266921 PMID:28492532 PMID:29744787 PMID:30290665 PMID:30858051 PMID:31319225 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:22857948 PMID:23233322 PMID:23283745 PMID:24033266 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28615295 PMID:28790153 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:11133745 PMID:21664875 PMID:24290284 PMID:24406074 PMID:26476733 PMID:26596586 PMID:28492532 PMID:30290665 NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491 		JBrowse link
Agammaglobulinemia 1, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8090769 PMID:8162056 PMID:8380905 PMID:8594569 PMID:8695804 PMID:8939985 PMID:9143921 PMID:9188445 PMID:9445504 PMID:9524120 PMID:9545398 PMID:9880544 PMID:10092645 PMID:11206059 PMID:11410123 PMID:11445810 PMID:11472359 PMID:11668622 PMID:11742281 PMID:12217331 PMID:14974089 PMID:15661032 PMID:16951917 PMID:17327079 PMID:17765309 PMID:18518992 PMID:19039656 PMID:19904586 PMID:20529312 PMID:23424595 PMID:25741868 PMID:27512878 PMID:27980540 PMID:28492532 PMID:29424453 PMID:29503650 PMID:30072168 PMID:30564228 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580 		JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 NCBI chr 1:81,763,609...81,768,039
Ensembl chr 1:81,763,614...81,767,980 		JBrowse link
Agammaglobulinemia 3, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar		 PMID:10525050 PMID:11920841 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 1:81,763,609...81,768,039
Ensembl chr 1:81,763,614...81,767,980 		JBrowse link
agammaglobulinemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blnk B-cell linker ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar Annotator: match by OMIM:613502		 OMIM
ClinVar		 PMID:10583958 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:260,187,023...260,254,490
Ensembl chr 1:260,186,967...260,254,600 		JBrowse link
G Zfp518a zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:260,152,881...260,178,360
Ensembl chr 1:260,153,645...260,178,349 		JBrowse link
agammaglobulinemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant OMIM
ClinVar		 PMID:14660746 PMID:28492532 NCBI chr 3:8,801,544...8,829,506
Ensembl chr 3:8,802,852...8,828,533 		JBrowse link
Agammaglobulinemia 6, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79b molecule ISO ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive
ClinVar Annotator: match by OMIM:612692		 OMIM
ClinVar		 PMID:17675462 PMID:17709424 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591 		JBrowse link
Agammaglobulinemia 7, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive OMIM
ClinVar		 PMID:22351933 PMID:25133428 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867 		JBrowse link
Agammaglobulinemia 8, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant ClinVar
OMIM		 PMID:21693761 PMID:24216514 PMID:25741868 PMID:28492532 NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410 		JBrowse link
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name Qualifiers 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
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 7
ClinVar Annotator: match by OMIM:612301		 OMIM
ClinVar		 PMID:15231021 PMID:18606301 PMID:19940926 PMID:28492532 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957 		JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers 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
Common Variable Immunodeficiency 1 term browser
Symbol Object Name Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality OMIM
ClinVar		 PMID:27913302 NCBI chr 8:48,699,796...48,711,912
Ensembl chr 8:48,699,769...48,711,910 		JBrowse link
immunodeficiency 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia X-linked type 2 OMIM
ClinVar		 PMID:29636373 NCBI chr  X:37,790,004...38,196,365
Ensembl chr  X:37,790,586...38,196,204 		JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar Annotator: match by term: IGHD III
ClinVar Annotator: match by OMIM:307200		 OMIM
ClinVar		 PMID:3486747 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8013627 PMID:8090769 PMID:8162018 PMID:8162056 PMID:8332900 PMID:8332901 PMID:8380905 PMID:8562928 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8723128 PMID:8834236 PMID:8938104 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9192269 PMID:9260159 PMID:9445504 PMID:9524120 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10373551 PMID:10737994 PMID:10844531 PMID:10859027 PMID:11206059 PMID:11410123 PMID:11438999 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11668622 PMID:11742281 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:14974089 PMID:15661032 PMID:16159644 PMID:16297664 PMID:16712653 PMID:16862044 PMID:16943681 PMID:16951917 PMID:17045652 PMID:17327079 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19904586 PMID:20529312 PMID:21039741 PMID:21520333 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24586880 PMID:24869598 PMID:24885015 PMID:25082755 PMID:25189416 PMID:25270678 PMID:25741868 PMID:25777788 PMID:26915675 PMID:27199251 PMID:27512878 PMID:27577878 PMID:27593100 PMID:27980540 PMID:28049639 PMID:28212557 PMID:28359783 PMID:28398200 PMID:28418267 PMID:28492532 PMID:29424453 PMID:29496671 PMID:29503650 PMID:29875397 PMID:30018078 PMID:30072168 PMID:30290665 PMID:30311057 PMID:30564228 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580 		JBrowse link
X-linked agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1
ClinVar Annotator: match by term: Hypoagammaglobulinemia, X-linked
ClinVar Annotator: match by OMIM:300755
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar		 PMID:2896233 PMID:4697357 PMID:7554467 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8090769 PMID:8162056 PMID:8164701 PMID:8164707 PMID:8380905 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9260159 PMID:9445504 PMID:9524120 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10678660 PMID:10737994 PMID:10859027 PMID:10887125 PMID:11102984 PMID:11206059 PMID:11410123 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11555397 PMID:11564824 PMID:11586956 PMID:11668622 PMID:11742281 PMID:11809909 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:12768435 PMID:14974089 PMID:15661032 PMID:16160918 PMID:16712653 PMID:16751014 PMID:16862044 PMID:16951917 PMID:17045652 PMID:17164954 PMID:17327079 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19904586 PMID:21397315 PMID:24001798 PMID:24033266 PMID:24820629 PMID:24885015 PMID:25741868 PMID:26915675 PMID:27512878 PMID:27577878 PMID:28492532 PMID:29424453 PMID:29503650 PMID:30072168 PMID:30564228 PMID:30627929, PMID:12655572, PMID:15024743 RGD:11040698, RGD:11040588 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISS OMIM:300310 | OMIM:300755 MouseDO NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867 		JBrowse link
X-Linked Hypogammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by null ClinVar PMID:8758136 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      primary immunodeficiency disease 2373
        lymphoproliferative syndrome 681
          agammaglobulinemia 63
            Achondroplasia and Swiss Type Agammaglobulinemia 0
            Agammaglobulinemia 1, Autosomal Recessive 2
            Agammaglobulinemia 2, Autosomal Recessive 0
            Agammaglobulinemia 3, Autosomal Recessive 1
            Agammaglobulinemia 6, Autosomal Recessive 1
            Agammaglobulinemia 7, Autosomal Recessive 1
            Agammaglobulinemia 8, Autosomal Dominant 1
            Agammaglobulinemia, Microcephaly, and Severe Dermatitis 0
            Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant 0
            Agammaglobulinemia, non-Bruton type 0
            Frenkel Russe Syndrome 0
            Good syndrome 0
            Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 0
            Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
            Say Barber Miller Syndrome 0
            X-Linked Hypogammaglobulinemia 1
            X-linked agammaglobulinemia + 3
            adenosine deaminase deficiency 3
            agammaglobulinemia 4 2
            agammaglobulinemia 5 1
            autosomal recessive osteopetrosis 7 1
            common variable immunodeficiency + 48
            immunodeficiency 59 1
            isolated growth hormone deficiency type III 1
            transient hypogammaglobulinemia + 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Immune & Inflammatory Diseases 3585
        immune system disease 2954
          Immunoproliferative Disorders 690
            lymphoproliferative syndrome 681
              agammaglobulinemia 63
                Achondroplasia and Swiss Type Agammaglobulinemia 0
                Agammaglobulinemia 1, Autosomal Recessive 2
                Agammaglobulinemia 2, Autosomal Recessive 0
                Agammaglobulinemia 3, Autosomal Recessive 1
                Agammaglobulinemia 6, Autosomal Recessive 1
                Agammaglobulinemia 7, Autosomal Recessive 1
                Agammaglobulinemia 8, Autosomal Dominant 1
                Agammaglobulinemia, Microcephaly, and Severe Dermatitis 0
                Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant 0
                Agammaglobulinemia, non-Bruton type 0
                Frenkel Russe Syndrome 0
                Good syndrome 0
                Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 0
                Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
                Say Barber Miller Syndrome 0
                X-Linked Hypogammaglobulinemia 1
                X-linked agammaglobulinemia + 3
                adenosine deaminase deficiency 3
                agammaglobulinemia 4 2
                agammaglobulinemia 5 1
                autosomal recessive osteopetrosis 7 1
                common variable immunodeficiency + 48
                immunodeficiency 59 1
                isolated growth hormone deficiency type III 1
                transient hypogammaglobulinemia + 0
paths to the root