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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.

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agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blnk B cell linker susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation		 CTD
RGD		 PMID:10583958 RGD:1600518 NCBI chrNW_004936636:3,220,554...3,290,054 JBrowse link
G Btk Bruton tyrosine kinase susceptibility ISO DNA:insertions, point mutations
ClinVar Annotator: match by term: Agammaglobulinemia		 RGD
ClinVar		 PMID:8162018 PMID:10352268 RGD:1600526 NCBI chrNW_004936813:429,400...467,481 JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chrNW_004936501:11,793,903...11,807,410 JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936706:561,195...564,577 JBrowse link
G Cd79b CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936541:4,534,233...4,537,448 JBrowse link
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14660746 RGD:1599837 NCBI chrNW_004936487:16,360,672...16,387,860 JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936588:884,817...913,052 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: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency OMIM
ClinVar		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chrNW_004936530:2,217,713...2,224,070 JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 More... NCBI chrNW_004936596:3,212,593...3,224,426 JBrowse link
G LOC101972165 myosin-7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chrNW_004936722:967,443...991,530 JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 More... NCBI chrNW_004936533:1,817,135...1,827,393 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 More... NCBI chrNW_004936813:429,400...467,481 JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936706:561,195...564,577 JBrowse link
Agammaglobulinemia 10, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant OMIM
ClinVar		 PMID:33951726 NCBI chrNW_004936562:1,852,759...1,870,647 JBrowse link
Agammaglobulinemia 2, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora2a adenosine A2a receptor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:597,970...618,564 JBrowse link
G Cabin1 calcineurin binding protein 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:890,474...1,030,914 JBrowse link
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,323,247...1,325,520 JBrowse link
G CUNH22orf15 chromosome unknown C22orf15 homolog ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,325,521...1,328,009 JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,271,980...1,275,212 JBrowse link
G Ggt5 gamma-glutamyltransferase 5 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:794,876...837,748 JBrowse link
G LOC101963449 D-dopachrome decarboxylase ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,043,006...1,045,054 JBrowse link
G Mif macrophage migration inhibitory factor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,207,058...1,208,010 JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,309,013...1,320,062 JBrowse link
G Slc2a11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,228,408...1,250,772 JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,276,239...1,308,945 JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:448,304...592,981 JBrowse link
G Susd2 sushi domain containing 2 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:878,737...887,319 JBrowse link
G Upb1 beta-ureidopropionase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:668,380...713,720 JBrowse link
G Vpreb3 V-set pre-B cell surrogate light chain 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,332,863...1,334,135 JBrowse link
G Znf70 zinc finger protein 70 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936619:1,335,782...1,343,396 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:9536098 PMID:10525050 PMID:11920841 PMID:17576681 PMID:24728327 More... NCBI chrNW_004936706:561,195...564,577 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 OMIM
ClinVar		 PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chrNW_004936636:3,220,554...3,290,054 JBrowse link
G Cc2d2b coiled-coil and C2 domain containing 2B ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936636:3,422,998...3,458,276 JBrowse link
G Ccnj cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936636:3,399,803...3,418,579 JBrowse link
G LOC101975532 delta-1-pyrroline-5-carboxylate synthase ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936636:3,779,259...3,800,846 JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936636:3,722,985...3,750,440 JBrowse link
G Znf518a zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:28492532 NCBI chrNW_004936636:3,311,979...3,345,040 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:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936487:16,360,672...16,387,860 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More... NCBI chrNW_004936541:4,534,233...4,537,448 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:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25741868 More... NCBI chrNW_004936480:1,188,408...1,273,210 JBrowse link
Agammaglobulinemia 8 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 8B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant OMIM
ClinVar		 PMID:21693761 PMID:24216514 PMID:25741868 PMID:28492532 PMID:28532655 More... NCBI chrNW_004936588:884,817...913,052 JBrowse link
Agammaglobulinemia 9, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive OMIM
ClinVar		 PMID:30718914 NCBI chrNW_004936476:25,650,957...25,655,072 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:9536098 PMID:11976687 PMID:17576681 PMID:23319571 PMID:23430113 More... NCBI chrNW_004936473:3,892,625...3,923,467 JBrowse link
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III ClinVar PMID:11976687 PMID:23319571 PMID:23430113 PMID:28492532 NCBI chrNW_004936473:3,807,895...3,856,760 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 OMIM
ClinVar		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chrNW_004936497:2,944,841...2,986,113 JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:514,883...520,223 JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:629,417...644,051 JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,310,556...1,321,974 JBrowse link
G Alox15b arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,279,944...1,288,321 JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,329,492...1,350,914 JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:416,013...423,872 JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:908,019...914,426 JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,435,601...1,437,423 JBrowse link
G Bcl6b BCL6B transcription repressor ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:294,622...301,134 JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,417,718...1,420,480 JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chrNW_004936501:11,793,903...11,807,410 JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 NCBI chrNW_004936513:10,607,617...10,620,403 JBrowse link
G Cd68 CD68 molecule ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:858,289...861,131 JBrowse link
G Cd81 CD81 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936794:664,089...670,294 JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,131,198...1,154,615 JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:727,907...735,783 JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:550,359...552,214 JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,174,559...1,191,171 JBrowse link
G Cr2 complement C3d receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936557:5,246,770...5,256,608 JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,456,911...1,476,331 JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:537,131...543,341 JBrowse link
G CUNH17orf49 chromosome unknown C17orf49 homolog ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:286,250...289,144 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 chrNW_004936613:1,467,797...1,501,107 JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:487,918...513,843 JBrowse link
G Dnah2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:970,004...1,076,582 JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:520,299...528,361 JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:954,383...960,573 JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:851,731...858,225 JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:604,268...609,075 JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:544,091...550,114 JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936677:1,232,228...1,235,440 JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO protein:decreased expression:blood, monocyte RGD PMID:17900300 RGD:5147988 NCBI chrNW_004937131:15,542...22,099 JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:721,295...727,845 JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:868,880...886,164 JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:608,730...611,871 JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,235,747...1,250,294 JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,352,621...1,355,177 JBrowse link
G Icos inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936631:562,650...572,263 JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936686:1,459,582...1,556,478 JBrowse link
G Il21 interleukin 21 ISO ClinVar Annotator: match by term: IL21 DEFICIENCY ClinVar PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chrNW_004936662:1,689,879...1,696,883 JBrowse link
G Il21r interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chrNW_004936501:11,100,170...11,112,112 JBrowse link
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,164,609...1,172,964 JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:644,098...647,475 JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,077,318...1,099,082 JBrowse link
G LOC101959443 cytochrome b5 domain-containing protein 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,102,009...1,103,965 JBrowse link
G LOC101966831 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:475,816...479,180 JBrowse link
G LOC101969316 GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:534,042...536,289 JBrowse link
G LOC101977665 tumor necrosis factor ligand superfamily member 12 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chrNW_004936595:831,252...839,783 JBrowse link
G Manba mannosidase beta ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 NCBI chrNW_004936520:616,762...715,010 JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:862,240...865,505 JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936581:2,466,294...2,477,530 JBrowse link
G Naa38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,100,774...1,101,909 JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:612,068...624,494 JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 PMID:29477724 PMID:32278790 NCBI chrNW_004936520:733,760...850,563 JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More... NCBI chrNW_004936600:3,465,016...3,471,258 JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:692,340...704,650 JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chrNW_004936541:4,873,459...4,919,787 JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,366,883...1,382,138 JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:528,832...533,212 JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:674,754...679,979 JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:755,585...781,692 JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 More... NCBI chrNW_004936533:1,801,207...1,807,431 JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:284,313...286,167 JBrowse link
G Sat2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:891,380...892,937 JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:844,073...850,951 JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:894,048...897,249 JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936677:1,288,637...1,316,884 JBrowse link
G Slc16a11 solute carrier family 16 member 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:306,925...309,591 JBrowse link
G Slc16a13 solute carrier family 16 member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:300,713...306,644 JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:567,267...574,051 JBrowse link
G Slc35g6 solute carrier family 35 member G6 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:752,605...755,370 JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:865,878...868,241 JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:704,717...706,357 JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:708,694...710,810 JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936677:1,195,283...1,216,993 JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:718,513...720,553 JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,404,017...1,406,756 JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:686,786...687,926 JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,099,126...1,100,226 JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:647,735...649,152 JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:8072530 PMID:15077010 PMID:16007086 PMID:16007087 PMID:16299065 More... NCBI chrNW_004936741:626,814...637,317 JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive ClinVar PMID:28492532 NCBI chrNW_004936492:98,878...101,920 JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:839,877...842,962 JBrowse link
G Tnk1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:667,956...674,681 JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:919,807...935,367 JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,172,957...1,174,517 JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936508:5,275,779...5,390,224 JBrowse link
G Vamp2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:1,385,692...1,389,484 JBrowse link
G Wrap53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:936,184...952,784 JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936677:1,239,501...1,256,332 JBrowse link
G Ybx2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:574,264...579,959 JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chrNW_004936595:736,873...753,386 JBrowse link
Common Variable Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12577056 PMID:19380800 PMID:28492532 NCBI chrNW_004936631:484,356...489,643 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:12577056 PMID:15507387 PMID:17576681 More... NCBI chrNW_004936631:562,650...572,263 JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:24140114 NCBI chrNW_004936600:3,465,016...3,471,258 JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chrNW_004936741:626,814...637,317 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: Immunodeficiency, common variable, 10 OMIM
ClinVar		 PMID:9536098 PMID:16303288 PMID:17576681 PMID:22013103 PMID:24033266 More... NCBI chrNW_004936600:3,465,016...3,471,258 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 term: Common variable immunodeficiency 11 OMIM
ClinVar		 PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chrNW_004936662:1,689,879...1,696,883 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 OMIM
ClinVar		 PMID:11583829 PMID:16639407 PMID:25741868 PMID:26279205 PMID:27365489 More... NCBI chrNW_004936520:733,760...850,563 JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 ClinVar NCBI chrNW_004936570:464,513...471,333 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 OMIM
ClinVar		 PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:28927821 More... NCBI chrNW_004936686:1,459,582...1,556,478 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 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27016798 PMID:28492532 NCBI chrNW_004936484:17,653,519...17,661,811 JBrowse link
Common Variable Immunodeficiency 2 term browser
Symbol Object Name Qualifiers 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:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936881:127,090...150,269 JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,729,707...1,756,108 JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,596,520...1,614,095 JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936881:396,930...411,059 JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:905,593...931,148 JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 NCBI chrNW_004936557:5,246,770...5,256,608 JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,555,981...1,595,077 JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,646,840...1,663,128 JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936881:417,348...504,650 JBrowse link
G Fam83g family with sequence similarity 83 member G ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936881:623,048...651,065 JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:881,150...901,296 JBrowse link
G Flii FLII actin remodeling protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,784,802...1,796,176 JBrowse link
G Gid4 GID complex subunit 4 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,618,522...1,635,776 JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,770,797...1,784,716 JBrowse link
G LOC101961675 myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:757,618...864,051 JBrowse link
G LOC101971396 GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936881:580,713...607,553 JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936881:372,713...377,655 JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,083,822...1,119,967 JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936881:369,161...372,628 JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,797,717...1,803,367 JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,669,680...1,724,929 JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:950,681...999,290 JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,131,792...1,207,460 JBrowse link
G Pld6 phospholipase D family member 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:867,501...872,899 JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase associated protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936881:682,011...716,082 JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,332,353...1,408,116 JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,120,527...1,123,326 JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936881:343,625...349,564 JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,849,239...1,877,724 JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936881:607,818...661,573 JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,838,974...1,848,742 JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,408,669...1,419,717 JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 OMIM
ClinVar		 PMID:8072530 PMID:9536098 PMID:15077010 PMID:16007086 PMID:16007087 More... NCBI chrNW_004936741:626,814...637,317 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_004936492:98,878...101,920 JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,436,845...1,555,533 JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chrNW_004936741:1,809,371...1,838,711 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: Immunodeficiency, common variable, 3 OMIM
ClinVar		 PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 More... NCBI chrNW_004936501:11,793,903...11,807,410 JBrowse link
Common Variable Immunodeficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase (P blood group) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936718:594,462...630,926 JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:407,482...452,538 JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:180,135...195,599 JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:75,196...88,446 JBrowse link
G Chadl chondroadherin like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936492:633,443...643,550 JBrowse link
G Csdc2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:368,211...371,834 JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:326,029...348,219 JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936492:696,982...778,132 JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936492:642,434...666,402 JBrowse link
G LOC101960563 uncharacterized LOC101960563 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:10,208...13,477 JBrowse link
G LOC101961588 cytochrome P450 2D17 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936718:153,340...157,966 JBrowse link
G LOC101962805 NADH-cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936718:552,369...564,195 JBrowse link
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:196,829...277,052 JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936718:31,946...55,822 JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936718:60,797...67,614 JBrowse link
G Nfam1 NFAT activating protein with ITAM motif 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936718:367,996...399,030 JBrowse link
G Pheta2 PH domain containing endocytic trafficking adaptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936718:50,354...55,699 JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:452,628...461,915 JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:357,732...368,042 JBrowse link
G Poldip3 DNA polymerase delta interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936718:516,609...538,275 JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:395,348...407,588 JBrowse link
G Rangap1 Ran GTPase activating protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:595,905...626,219 JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936492:872,316...890,860 JBrowse link
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936718:498,841...506,972 JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:31,182...55,866 JBrowse link
G Serhl2 serine hydrolase like 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936718:482,102...499,855 JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:108,751...113,765 JBrowse link
G Smdt1 single-pass membrane protein with aspartate rich tail 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936718:55,879...59,547 JBrowse link
G Snu13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:289,834...295,883 JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:115,923...174,614 JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936718:180,145...233,037 JBrowse link
G Tef TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:505,978...528,087 JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 OMIM
ClinVar		 PMID:19666484 PMID:21041452 PMID:25741868 PMID:28492532 NCBI chrNW_004936492:98,878...101,920 JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:467,221...477,838 JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chrNW_004936492:919,963...976,926 JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:303,843...325,812 JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chrNW_004936492:532,883...584,142 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: Immunodeficiency, common variable, 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004936581:2,466,294...2,477,530 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: Immunodeficiency, common variable, 6 OMIM
ClinVar		 PMID:20237408 PMID:25741868 PMID:28492532 NCBI chrNW_004936794:664,089...670,294 JBrowse link
Common Variable Immunodeficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4bpb complement component 4 binding protein beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:5,546,692...5,561,531 JBrowse link
G Cd34 CD34 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:5,030,788...5,051,864 JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:5,136,784...5,175,543 JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:5,344,373...5,364,234 JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24033266 More... NCBI chrNW_004936557:5,246,770...5,256,608 JBrowse link
G CUNH1orf116 chromosome unknown C1orf116 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:5,586,969...5,615,159 JBrowse link
G Fcamr Fc alpha and mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:5,663,621...5,673,687 JBrowse link
G Fcmr Fc fragment of IgM receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:5,707,138...5,718,192 JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:5,765,093...5,769,853 JBrowse link
G Il20 interleukin 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:5,749,419...5,751,776 JBrowse link
G Il24 interleukin 24 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:5,719,592...5,727,113 JBrowse link
G LOC101964865 complement receptor type 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:5,185,831...5,284,999 JBrowse link
G Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:5,559,993...5,584,912 JBrowse link
G Pigr polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:5,690,895...5,701,822 JBrowse link
G Plxna2 plexin A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chrNW_004936557:4,808,371...4,920,453 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:9536098 PMID:16199547 PMID:17576681 PMID:22608502 PMID:22721650 More... NCBI chrNW_004936689:429,907...1,080,226 JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:26206937 PMID:26768763 PMID:28492532 NCBI chrNW_004936689:694,119...696,840 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:25741868 PMID:27913302 PMID:28492532 NCBI chrNW_004936542:4,005,616...4,018,135 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: Immunodeficiency 61 OMIM
ClinVar		 PMID:29636373 NCBI chrNW_004936624:4,327,100...4,616,724 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 OMIM
ClinVar		 PMID:3486747 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 More... NCBI chrNW_004936813:429,400...467,481 JBrowse link
G Timm8a translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:11956200 PMID:21984432 PMID:22736418 PMID:28492532 NCBI chrNW_004936813:425,613...428,722 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 ameliorates ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia
Human gene in mouse model
human gene in a mouse model		 OMIM
ClinVar
RGD		 PMID:2896233 PMID:4697357 PMID:7554467 PMID:7633429 PMID:7678697 More... RGD:124713551 RGD:124715475 NCBI chrNW_004936813:429,400...467,481 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 term: Hypogammaglobulinemia, X-linked ClinVar PMID:8758136 NCBI chrNW_004936813:429,400...467,481 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13624
    syndrome 8132
      primary immunodeficiency disease 3109
        lymphoproliferative syndrome 781
          agammaglobulinemia 221
            Achondroplasia and Swiss Type Agammaglobulinemia 0
            Agammaglobulinemia 1, Autosomal Recessive 2
            Agammaglobulinemia 10, Autosomal Dominant 1
            Agammaglobulinemia 2, Autosomal Recessive 16
            Agammaglobulinemia 3, Autosomal Recessive 1
            Agammaglobulinemia 6, Autosomal Recessive 1
            Agammaglobulinemia 7, Autosomal Recessive 1
            Agammaglobulinemia 8 1
            Agammaglobulinemia 9, Autosomal Recessive 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 + 2
            adenosine deaminase deficiency 4
            agammaglobulinemia 4 6
            agammaglobulinemia 5 1
            autosomal recessive osteopetrosis 7 1
            common variable immunodeficiency + 183
            immunodeficiency 59 1
            isolated growth hormone deficiency type III 2
            transient hypogammaglobulinemia + 0
Path 2
Term Annotations click to browse term
  disease 13624
    disease of anatomical entity 13360
      Immune & Inflammatory Diseases 4176
        immune system disease 3684
          Immunoproliferative Disorders 789
            lymphoproliferative syndrome 781
              agammaglobulinemia 221
                Achondroplasia and Swiss Type Agammaglobulinemia 0
                Agammaglobulinemia 1, Autosomal Recessive 2
                Agammaglobulinemia 10, Autosomal Dominant 1
                Agammaglobulinemia 2, Autosomal Recessive 16
                Agammaglobulinemia 3, Autosomal Recessive 1
                Agammaglobulinemia 6, Autosomal Recessive 1
                Agammaglobulinemia 7, Autosomal Recessive 1
                Agammaglobulinemia 8 1
                Agammaglobulinemia 9, Autosomal Recessive 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 + 2
                adenosine deaminase deficiency 4
                agammaglobulinemia 4 6
                agammaglobulinemia 5 1
                autosomal recessive osteopetrosis 7 1
                common variable immunodeficiency + 183
                immunodeficiency 59 1
                isolated growth hormone deficiency type III 2
                transient hypogammaglobulinemia + 0
paths to the root