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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
RGD
PMID:10583958 RGD:1600518 NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113
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
RGD
PMID:10352268 PMID:15142874 PMID:8162018 RGD:1600526 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935
JBrowse link
G Cd79b CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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 chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
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 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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: 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 chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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 chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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 chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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 chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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:25741868 PMID:33951726 NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
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 chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
JBrowse link
G Cabin1 calcineurin binding protein 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,893,314...13,015,357
Ensembl chr20:12,893,358...13,015,357
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 chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
JBrowse link
G Ddt D-dopachrome tautomerase ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,884,216...12,886,687
Ensembl chr20:12,884,243...12,888,482
JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
JBrowse link
G Ggt5 gamma-glutamyltransferase 5 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:13,043,255...13,071,523
Ensembl chr20:13,043,257...13,071,450
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Gstt2 glutathione S-transferase, theta 2 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,819,617...12,823,288
Ensembl chr20:12,819,170...12,823,288
JBrowse link
G Mif macrophage migration inhibitory factor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
JBrowse link
G RGD1564162 similar to Homo sapiens fetal lung specific expression unknown ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,721,738...12,725,864
Ensembl chr20:12,723,160...12,726,059
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 chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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 chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
JBrowse link
G Susd2 sushi domain containing 2 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:13,017,468...13,024,903
Ensembl chr20:13,017,477...13,024,903
JBrowse link
G Upb1 beta-ureidopropionase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590
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 chr20:12,717,475...12,718,785
Ensembl chr20:12,716,779...12,719,520
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:24481606 PMID:24728327 PMID:25741868 More... NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935
JBrowse link
agammaglobulinemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
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 chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113
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 chr 1:239,561,506...239,655,771
Ensembl chr 1:239,561,987...239,682,416
JBrowse link
G Ccnj cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:239,659,588...239,677,367 JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:239,414,004...239,425,319
Ensembl chr 1:239,415,203...239,425,272
JBrowse link
G Zfp518a 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 chr 1:239,719,305...239,744,978
Ensembl chr 1:239,719,505...239,744,979
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 chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
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 chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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 chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
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 chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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 chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537
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 chr16:5,769,226...5,807,214
Ensembl chr16:5,769,215...5,799,352
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 chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120
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 chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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 chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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 chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631
JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
JBrowse link
G Bcl6b BCL6B, transcription repressor ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974
JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd68 Cd68 molecule ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
JBrowse link
G Cd81 Cd81 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
JBrowse link
G Clec10a C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435
JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
JBrowse link
G Cr2 complement C3d receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781
JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911
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 chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471
JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,384,345...54,389,853
Ensembl chr10:54,384,347...54,389,858
JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923
JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906
JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO protein:decreased expression:blood, monocyte RGD PMID:17900300 RGD:5147988 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062
JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,350,577...54,370,964
Ensembl chr10:54,350,131...54,370,964
JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,714,834...54,717,769
Ensembl chr10:54,714,198...54,717,765
JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,824,124...53,828,350
Ensembl chr10:53,825,574...53,828,097
JBrowse link
G Icos inducible T-cell co-stimulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
JBrowse link
G Il21 interleukin 21 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IL21 DEFICIENCY
CTD
ClinVar
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G Il21r interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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 chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174
JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760
JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
JBrowse link
G Manba mannosidase beta ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 NCBI chr 2:223,910,432...224,002,988
Ensembl chr 2:223,910,432...224,002,983
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 1:228,016,439...228,024,736 JBrowse link
G Mir195 microRNA 195 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable agammaglobulinemia
CTD
ClinVar
PMID:25741868 PMID:29477724 PMID:32278790 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable agammaglobulinemia
CTD
ClinVar
PMID:24140114 PMID:25524009 PMID:25741868 PMID:28492532 PMID:28778864 More... NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,544,588...54,557,854
Ensembl chr10:54,544,588...54,558,434
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,718,608...54,722,784
Ensembl chr10:54,717,724...54,722,782
JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709
JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
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 chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
JBrowse link
G RGD1308134 similar to RIKEN cDNA 1110020A23 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601
JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,954,904...54,956,622
Ensembl chr10:54,951,991...54,956,601
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms (human) RGD PMID:10361244 RGD:5147864 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Sat2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,340,756...54,343,507
Ensembl chr10:54,340,372...54,343,224
JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593
JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
JBrowse link
G Slc16a11 solute carrier family 16, member 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915
JBrowse link
G Slc16a13 solute carrier family 16, member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788
JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
JBrowse link
G Slc35g3 solute carrier family 35, member G3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,478,796...54,481,543
Ensembl chr10:54,479,770...54,481,748
JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,373,602...54,376,591
Ensembl chr10:54,372,403...54,376,591
JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131
JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058
JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572
JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,523,901...54,525,999
Ensembl chr10:54,523,585...54,525,990
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447
JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:8072530 PMID:15077010 PMID:16007086 PMID:16007087 PMID:16299065 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive
CTD
ClinVar
PMID:28492532 NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213
JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331
JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 PMID:28492532 PMID:32499645 NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892
JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:56,917,284...56,929,791
Ensembl chr10:56,917,121...56,929,770
JBrowse link
G Ybx2 Y box binding protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371
JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492
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 chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 OMIM
ClinVar
PMID:9536098 PMID:11343122 PMID:12577056 PMID:15507387 PMID:16199547 More... NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:24140114 NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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 chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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 chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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 chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
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 chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 ClinVar NCBI chr 1:85,679,353...85,690,415
Ensembl chr 1:85,680,861...85,690,447
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 chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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 chr19:54,559,409...54,564,714
Ensembl chr19:54,560,128...54,566,642
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 chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
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 chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
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 chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026
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 chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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 chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597
JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
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 chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369
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 chr10:45,255,501...45,269,971
Ensembl chr10:45,255,507...45,269,969
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 chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642
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 chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
JBrowse link
G Fbxw10 F-box and WD repeat domain containing 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907
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 chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
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 chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
JBrowse link
G Gid4 GID complex subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,221,210...45,247,627
Ensembl chr10:45,245,754...45,247,621
Ensembl chr10:45,245,754...45,247,621
JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
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 chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094
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 chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
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 chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464
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 chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155
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 chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144
JBrowse link
G Mprip 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 chr10:44,453,929...44,569,442
Ensembl chr10:44,453,929...44,569,118
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 chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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 chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150
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 chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
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 chr10:44,577,740...44,581,686
Ensembl chr10:44,577,675...44,581,077
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 chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849
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 chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
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 chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186
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 chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699
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 chr10:45,468,698...45,497,820
Ensembl chr10:45,468,700...45,497,820
JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637
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 chr10:46,352,064...46,400,795
Ensembl chr10:46,352,061...46,399,811
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 chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876
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 chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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 chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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 chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
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 chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032
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 chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
JBrowse link
G Tvp23b trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203
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 chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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 chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
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 chr 7:113,644,557...113,659,050
Ensembl chr 7:113,644,639...113,659,050
JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,748,026...113,759,296
Ensembl chr 7:113,747,516...113,764,258
JBrowse link
G Chadl chondroadherin-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272
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 chr 7:113,451,998...113,466,464
Ensembl chr 7:113,451,998...113,466,463
JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,306,686...114,324,247
Ensembl chr 7:114,306,685...114,324,298
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,519,974...113,542,834
Ensembl chr 7:113,519,980...113,542,845
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
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 chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489
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 chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511
JBrowse link
G Mir33 microRNA 33 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,713,855...113,713,923
Ensembl chr 7:113,713,855...113,713,923
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239
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 chr 7:114,139,318...114,175,395
Ensembl chr 7:114,139,345...114,175,442
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 chr 7:113,855,437...113,861,910
Ensembl chr 7:113,857,249...113,861,871
JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,378,469...113,385,035
Ensembl chr 7:113,378,471...113,385,460
JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,466,632...113,477,004
Ensembl chr 7:113,466,632...113,477,022
JBrowse link
G Poldip3 DNA polymerase delta interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,274,845...114,303,278
Ensembl chr 7:114,275,085...114,303,271
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 chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
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 chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051
JBrowse link
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,262,929...114,272,817
Ensembl chr 7:114,256,472...114,272,817
JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,783,217...113,811,089
Ensembl chr 7:113,783,095...113,811,087
JBrowse link
G Serhl2 serine hydrolase-like 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,246,056...114,272,781
Ensembl chr 7:114,246,056...114,272,781
JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,722,408...113,727,858
Ensembl chr 7:113,722,408...113,727,858
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 chr 7:113,861,997...113,865,245
Ensembl chr 7:113,860,611...113,865,226
JBrowse link
G Smim45 small integral membrane protein 45 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,765,468...113,773,339
Ensembl chr 7:113,765,468...113,773,339
JBrowse link
G Snu13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,565,903...113,570,871
Ensembl chr 7:113,565,295...113,570,872
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 chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839
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 chr 7:113,317,191...113,341,783
Ensembl chr 7:113,317,283...113,341,783
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 chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,362,703...113,371,423
Ensembl chr 7:113,361,148...113,372,688
JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,814,793...113,831,974
Ensembl chr 7:113,814,992...113,831,333
JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:112,926,154...112,978,793
Ensembl chr 7:112,926,248...112,974,878
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 chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762
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 chr 7:113,262,142...113,310,399
Ensembl chr 7:113,262,165...113,310,399
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 chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
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 chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
JBrowse link
Common Variable Immunodeficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C13h1orf116 similar to human chromosome 1 open reading frame 116 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,187,442...42,201,432
Ensembl chr13:42,188,609...42,201,426
JBrowse link
G C4bpa complement component 4 binding protein, alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,075,715...42,111,205
Ensembl chr13:42,075,717...42,111,205
JBrowse link
G C4bpb complement component 4 binding protein, beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,120,798...42,131,515
Ensembl chr13:42,120,798...42,131,817
JBrowse link
G Cd34 CD34 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:106,480,074...106,499,462
Ensembl chr13:106,480,043...106,499,832
JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831
JBrowse link
G Cr1l complement C3b/C4b receptor 1 like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:106,606,952...106,660,442
Ensembl chr13:106,574,858...106,660,445
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 chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
JBrowse link
G Fcamr Fc alpha and mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,273,891...42,288,002
Ensembl chr13:42,273,628...42,287,113
JBrowse link
G Fcmr Fc mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,337,363...42,351,706
Ensembl chr13:42,337,414...42,351,653
JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
JBrowse link
G Il20 interleukin 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
JBrowse link
G Il24 interleukin 24 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,353,089...42,358,487
Ensembl chr13:42,353,090...42,358,487
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 chr13:42,147,473...42,174,699
Ensembl chr13:42,147,478...42,174,699
JBrowse link
G Pigr polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,298,905...42,326,877
Ensembl chr13:42,298,914...42,326,875
JBrowse link
G Plxna2 plexin A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:106,163,103...106,358,979
Ensembl chr13:106,163,103...106,358,979
JBrowse link
G Yod1 YOD1 deubiquitinase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,175,313...42,177,030
Ensembl chr13:42,174,820...42,177,205
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 chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
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 chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655
JBrowse link
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oas1a 2'-5' oligoadenylate synthetase 1A ISO ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia ClinVar
OMIM
PMID:34145065 NCBI chr12:35,669,798...35,680,505
Ensembl chr12:35,669,801...35,680,517
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 chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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 chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747
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:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 More... NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:11956200 PMID:21984432 PMID:22736418 PMID:28492532 NCBI chr  X:97,717,932...97,721,918
Ensembl chr  X:97,717,920...97,721,960
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
DNA:mutations:exon, intron:multiple
OMIM
ClinVar
RGD
PMID:2896233 PMID:4697357 PMID:7554467 PMID:7633429 PMID:7678697 More... RGD:124715475, RGD:124713551, RGD:11040698, RGD:11040588 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISS OMIM:300310 | OMIM:300755 MouseDO NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
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 chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      primary immunodeficiency disease 3831
        lymphoproliferative syndrome 898
          agammaglobulinemia 236
            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
            IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA 1
            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 5
            agammaglobulinemia 4 7
            agammaglobulinemia 5 1
            autosomal recessive osteopetrosis 7 1
            common variable immunodeficiency + 195
            immunodeficiency 59 1
            isolated growth hormone deficiency type III 2
            transient hypogammaglobulinemia + 0
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Immune & Inflammatory Diseases 5178
        immune system disease 4487
          Immunoproliferative Disorders 909
            lymphoproliferative syndrome 898
              agammaglobulinemia 236
                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
                IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA 1
                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 5
                agammaglobulinemia 4 7
                agammaglobulinemia 5 1
                autosomal recessive osteopetrosis 7 1
                common variable immunodeficiency + 195
                immunodeficiency 59 1
                isolated growth hormone deficiency type III 2
                transient hypogammaglobulinemia + 0
paths to the root