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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 CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation
CTD
RGD
PMID:10583958 RGD:1600518 NCBI chr14:107,630,477...107,715,421
Ensembl chr14:107,625,803...107,715,368
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 chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link
G CD19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,879...18,603,595
JBrowse link
G CD79A CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:49,996,116...49,999,294
Ensembl chr 6:49,975,957...50,010,059
JBrowse link
G CD79B CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,441
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 1:269,209,660...269,238,529
Ensembl chr 1:269,209,671...269,238,526
JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,858,786...76,898,351
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 chr17:47,044,492...47,072,232
Ensembl chr17:47,044,495...47,072,245
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 chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
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 chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
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 2:24,565,447...24,573,853
Ensembl chr 2:24,565,449...24,602,590
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:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:49,996,116...49,999,294
Ensembl chr 6:49,975,957...50,010,059
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 chr 2:15,227,850...15,245,679
Ensembl chr 2:15,227,829...15,245,667
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 chr14:49,467,186...49,485,845
Ensembl chr14:49,468,862...49,485,841
JBrowse link
G C14H22orf15 chromosome 14 C22orf15 homolog ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,924,196...49,926,033
Ensembl chr14:49,923,613...49,926,033
JBrowse link
G CABIN1 calcineurin binding protein 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,686,196...49,787,723
Ensembl chr14:49,686,197...49,787,688
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 chr14:49,921,600...49,923,529
Ensembl chr14:49,921,594...49,928,405
JBrowse link
G DDT D-dopachrome tautomerase ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,790,794...49,793,196 JBrowse link
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,871,077...49,875,022
Ensembl chr14:49,871,218...49,877,683
JBrowse link
G GGT5 gamma-glutamyltransferase 5 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,638,184...49,663,007
Ensembl chr14:49,640,422...49,666,575
JBrowse link
G LOC100153094 glutathione S-transferase theta-1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,801,444...49,807,668 JBrowse link
G MIF macrophage migration inhibitory factor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,862,317
JBrowse link
G MMP11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,907,684...49,917,494
Ensembl chr14:49,907,694...49,917,469
JBrowse link
G SLC2A11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,845,481...49,864,912
Ensembl chr14:49,845,319...49,863,188
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 chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048
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 chr14:49,332,937...49,463,965 JBrowse link
G SUSD2 sushi domain containing 2 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,671,856...49,683,889 JBrowse link
G UPB1 beta-ureidopropionase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr14:49,533,208...49,561,518
Ensembl chr14:49,533,226...49,565,100
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 chr14:49,924,874...49,929,562
Ensembl chr14:49,925,379...49,935,617
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 chr 6:49,996,116...49,999,294
Ensembl chr 6:49,975,957...50,010,059
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 chr14:107,174,062...107,221,373
Ensembl chr14:107,170,689...107,221,215
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 chr14:107,630,477...107,715,421
Ensembl chr14:107,625,803...107,715,368
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 chr14:107,411,853...107,506,054
Ensembl chr14:107,414,080...107,541,437
JBrowse link
G CCNJ cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr14:107,518,663...107,542,767
Ensembl chr14:107,425,115...107,542,762
JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr14:107,263,546...107,390,923
Ensembl chr14:107,263,449...107,506,052
JBrowse link
G TCTN3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr14:107,230,820...107,263,364
Ensembl chr14:107,230,934...107,263,344
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 chr14:107,590,080...107,633,917
Ensembl chr14:107,590,598...107,619,779
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 1:269,209,660...269,238,529
Ensembl chr 1:269,209,671...269,238,526
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 chr12:15,052,966...15,056,441
Ensembl chr12:15,053,007...15,056,441
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 chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
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 2:76,859,079...76,906,275
Ensembl chr 2:76,858,786...76,898,351
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 chr 7:25,242,862...25,247,407
Ensembl chr 7:25,242,969...25,247,407
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 chr13:35,290,835...35,323,245
Ensembl chr13:35,290,264...35,323,356
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 chr13:35,196,844...35,257,806 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 chr 1:159,128,039...159,187,476
Ensembl chr 1:159,128,038...159,187,481
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 chr12:52,573,521...52,581,755
Ensembl chr12:52,576,401...52,581,755
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 chr12:52,683,230...52,698,746
Ensembl chr12:52,681,624...52,697,459
JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,401,861...52,414,913
Ensembl chr12:52,286,019...52,414,907
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,292,530...53,302,850
Ensembl chr12:53,292,524...53,302,993
JBrowse link
G ALOX15B arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,259,867...53,281,127
Ensembl chr12:53,259,940...53,281,520
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,309,845...53,331,780
Ensembl chr12:53,309,845...53,331,324
JBrowse link
G ASGR1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,536,738...52,540,636
Ensembl chr12:52,536,738...52,544,996
JBrowse link
G ASGR2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,479,404...52,506,569
Ensembl chr12:52,461,396...52,506,574
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,925,697...52,932,638
Ensembl chr12:52,925,693...52,932,637
JBrowse link
G AURKB aurora kinase B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,410,833...53,426,165
Ensembl chr12:53,410,176...53,423,225
JBrowse link
G BCL6B BCL6B transcription repressor ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,427,405...52,433,231
Ensembl chr12:52,426,941...52,433,231
JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,394,514...53,406,752
Ensembl chr12:53,404,339...53,406,207
JBrowse link
G C12H17orf49 chromosome 12 C17orf49 homolog ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,418,989...52,421,938
Ensembl chr12:52,418,484...52,421,955
JBrowse link
G CD19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,879...18,603,595
JBrowse link
G CD40LG CD40 ligand ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,711
JBrowse link
G CD68 CD68 molecule ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695
JBrowse link
G CD81 CD81 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:1,625,728...1,641,662
Ensembl chr 2:1,506,652...1,641,667
JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,135,767...53,163,244
Ensembl chr12:53,112,230...53,165,653
JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,749,422...52,774,642
Ensembl chr12:52,742,098...52,759,676
JBrowse link
G CLDN7 claudin 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,612,517...52,628,376
Ensembl chr12:52,612,507...52,628,362
JBrowse link
G CLEC10A C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,461,750...52,464,632 JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,181,096...53,201,670
Ensembl chr12:53,181,642...53,201,667
JBrowse link
G CTC1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,427,807...53,454,149 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 chr10:46,820,016...46,863,848
Ensembl chr10:46,820,051...46,868,030
JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,550,138...52,574,021
Ensembl chr12:52,550,141...52,575,156
JBrowse link
G DNAH2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,982,217...53,086,744 JBrowse link
G DVL2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,581,687...52,590,266
Ensembl chr12:52,579,765...52,590,292
JBrowse link
G EFNB3 ephrin B3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,970,398...52,976,260
Ensembl chr12:52,970,484...52,976,261
JBrowse link
G EIF4A1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,868,479...52,874,248
Ensembl chr12:52,868,431...52,874,249
JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,659,040...52,664,686 JBrowse link
G ELP5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,606,140...52,612,275
Ensembl chr12:52,603,833...52,612,275
JBrowse link
G FBXO39 F-box protein 39 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:50,635,915...50,723,841 JBrowse link
G FGF11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,742,090...52,749,331
Ensembl chr12:52,742,098...52,759,676
JBrowse link
G FXR2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,885,932...52,903,257
Ensembl chr12:52,882,870...52,903,477
JBrowse link
G GABARAP GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,596,130...52,598,166
Ensembl chr12:52,597,083...52,598,194
JBrowse link
G GPS2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,664,869...52,667,643
Ensembl chr12:52,664,873...52,667,610
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,200,570...53,250,566
Ensembl chr12:53,235,900...53,251,559
JBrowse link
G HES7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,334,350...53,339,336
Ensembl chr12:53,334,901...53,337,376
JBrowse link
G ICOS inducible T cell costimulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,123
JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,724...136,464,942
JBrowse link
G IL21 interleukin 21 ISO ClinVar Annotator: match by term: IL21 DEFICIENCY ClinVar PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,530,949...101,540,738
JBrowse link
G IL21R interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,344...19,489,152
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 chr12:53,171,315...53,178,924
Ensembl chr12:53,171,318...53,180,823
JBrowse link
G KCTD11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,698,155...52,700,965
Ensembl chr12:52,698,834...52,699,649
JBrowse link
G KDM6B lysine demethylase 6B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,087,072...53,108,949
Ensembl chr12:53,091,334...53,108,214
JBrowse link
G LOC100521350 transmembrane protein 256-like ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr 1:73,130,766...73,131,276 JBrowse link
G MANBA mannosidase beta ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 NCBI chr 8:118,251,122...118,361,903
Ensembl chr 8:118,251,236...118,364,856
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 chr14:97,103,926...97,107,635
Ensembl chr14:97,102,894...97,108,936
JBrowse link
G MIR195 microRNA mir-195 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,422,039...52,422,118
Ensembl chr12:52,422,039...52,422,118
JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,878,924...52,882,854
Ensembl chr12:52,878,764...52,882,863
JBrowse link
G MS4A1 membrane spanning 4-domains A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:11,216,238...11,229,060 JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,111,249...53,112,487 JBrowse link
G NEURL4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,667,826...52,680,158
Ensembl chr12:52,667,831...52,680,189
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 chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,637...118,506,691
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 chr14:113,406,412...113,414,177
Ensembl chr14:113,406,004...113,414,173
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,582,481...14,723,336
JBrowse link
G PER1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,361,863...53,376,723
Ensembl chr12:53,361,868...53,376,611
JBrowse link
G PHF23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,590,801...52,595,208
Ensembl chr12:52,590,801...52,598,175
JBrowse link
G PLSCR3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,719,060...52,724,570
Ensembl chr12:52,719,060...52,724,982
JBrowse link
G POLR2A RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,779,833...52,806,210
Ensembl chr12:52,779,825...52,810,165
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 2:24,547,605...24,553,944
Ensembl chr 2:24,546,958...24,558,430
JBrowse link
G RNASEK ribonuclease K ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,416,903...52,418,876
Ensembl chr12:52,417,135...52,418,873
JBrowse link
G SAT2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,911,725...52,913,314
Ensembl chr12:52,911,723...52,913,363
JBrowse link
G SENP3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,857,463...52,867,583 JBrowse link
G SHBG sex hormone binding globulin ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,914,711...52,919,092 JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:50,679,900...50,710,985
Ensembl chr12:50,679,252...50,710,983
JBrowse link
G SLC16A11 solute carrier family 16 member 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,434,607...52,442,476
Ensembl chr12:52,440,113...52,442,435
JBrowse link
G SLC16A13 solute carrier family 16 member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,435,519...52,439,631
Ensembl chr12:52,435,537...52,439,994
JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,628,746...52,634,965
Ensembl chr12:52,628,450...52,634,967
JBrowse link
G SLC35G6 solute carrier family 35 member G6 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,774,664...52,779,575 JBrowse link
G SOX15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,882,840...52,885,785 JBrowse link
G SPEM2 SPEM family member 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,729,001...52,731,131
Ensembl chr12:52,728,927...52,730,822
JBrowse link
G TEKT1 tektin 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:50,526,188...50,552,083
Ensembl chr12:50,526,190...50,580,553
JBrowse link
G TMEM102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,738,942...52,749,326
Ensembl chr12:52,739,238...52,741,322
JBrowse link
G TMEM107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,394,500...53,397,064
Ensembl chr12:53,393,043...53,397,051
JBrowse link
G TMEM88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,109,467...53,110,648
Ensembl chr12:53,109,621...53,110,646
JBrowse link
G TMEM95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,701,119...52,704,121
Ensembl chr12:52,701,251...52,702,717
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 chr12:61,245,976...61,270,154
Ensembl chr12:61,246,062...61,270,151
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive ClinVar PMID:28492532 NCBI chr 5:6,699,812...6,703,403
Ensembl chr 5:6,699,877...6,703,659
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 chr12:52,843,026...52,853,328
Ensembl chr12:52,842,683...52,853,326
JBrowse link
G TNFSF13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,853,646...52,857,033
Ensembl chr12:52,853,665...52,857,033
JBrowse link
G TNK1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,711,133...52,719,101
Ensembl chr12:52,711,921...52,722,017
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TRAPPC1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,179,257...53,180,981 JBrowse link
G TTC7A tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:93,457,623...93,591,982
Ensembl chr 3:93,457,622...93,592,348
JBrowse link
G VAMP2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:53,378,407...53,382,243 JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,954,674...52,968,371
Ensembl chr12:52,954,669...52,974,741
JBrowse link
G YBX2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,635,383...52,642,443
Ensembl chr12:52,635,383...52,641,651
JBrowse link
G ZBTB4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr12:52,759,912...52,775,725 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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
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 chr15:107,350,253...107,370,123
Ensembl chr15:107,350,203...107,370,123
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:24140114 NCBI chr14:113,406,412...113,414,177
Ensembl chr14:113,406,004...113,414,173
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 chr12:61,245,976...61,270,154
Ensembl chr12:61,246,062...61,270,151
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 chr14:113,406,412...113,414,177
Ensembl chr14:113,406,004...113,414,173
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 8:101,532,742...101,540,712
Ensembl chr 8:101,530,949...101,540,738
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 8:118,391,010...118,478,927
Ensembl chr 8:118,390,637...118,506,691
JBrowse link
G NFKBID NFKB inhibitor delta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 ClinVar NCBI chr 6:45,298,289...45,307,471
Ensembl chr 6:45,296,039...45,306,317
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 chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,724...136,464,942
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 chr14:56,545,792...56,551,131
Ensembl chr14:56,545,189...56,551,125
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 chr12:59,936,838...59,953,677
Ensembl chr12:59,936,848...59,954,596
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 chr12:60,507,662...60,530,239
Ensembl chr12:60,507,662...60,529,534
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 chr12:60,617,642...60,633,210
Ensembl chr12:60,617,648...60,633,272
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 chr12:60,162,656...60,171,586
Ensembl chr12:60,162,707...60,171,961
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 chr12:61,000,562...61,023,920
Ensembl chr12:60,994,310...61,045,396
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 chr12:60,633,166...60,651,821
Ensembl chr12:60,633,170...60,651,681
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 chr12:60,586,222...60,598,290
Ensembl chr12:60,586,209...60,598,284
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 chr12:60,171,916...60,249,539
Ensembl chr12:60,171,918...60,234,199
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 chr12:60,296,749...60,322,653
Ensembl chr12:60,296,820...60,322,650
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 chr12:61,029,186...61,045,400
Ensembl chr12:61,001,321...61,045,396
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 chr12:60,475,722...60,487,376
Ensembl chr12:60,475,733...60,487,415
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 chr12:60,600,993...60,617,601
Ensembl chr12:60,600,998...60,617,454
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 chr12:60,261,560...60,281,886
Ensembl chr12:60,260,981...60,281,884
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 chr12:60,487,337...60,500,423
Ensembl chr12:60,487,341...60,500,451
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 chr12:60,144,138...60,148,743
Ensembl chr12:60,128,686...60,149,270
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 chr12:60,925,161...60,933,999
Ensembl chr12:60,906,718...60,933,945
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 chr12:60,141,488...60,144,214
Ensembl chr12:60,137,566...60,144,201
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 chr12:60,461,373...60,475,695
Ensembl chr12:60,466,190...60,475,092
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 chr12:61,077,617...61,185,906
Ensembl chr12:61,077,628...61,186,129
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 chr12:60,533,502...60,582,645 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 chr12:60,979,496...60,994,577
Ensembl chr12:60,979,499...60,994,582
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 chr12:60,880,367...60,919,279 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 chr12:61,057,896...61,060,681
Ensembl chr12:61,057,944...61,060,679
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 chr12:60,340,879...60,387,856
Ensembl chr12:60,281,878...60,396,630
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 chr12:60,751,159...60,854,710
Ensembl chr12:60,750,091...60,855,287
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 chr12:60,922,466...60,924,255
Ensembl chr12:60,922,473...60,924,255
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 chr12:60,117,452...60,124,071
Ensembl chr12:60,117,460...60,126,173
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 chr12:60,414,421...60,435,451
Ensembl chr12:60,414,446...60,435,450
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 chr12:60,021,176...60,114,488
Ensembl chr12:60,019,208...60,056,939
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 chr12:60,281,883...60,332,141
Ensembl chr12:60,281,878...60,396,630
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 chr12:60,435,276...60,443,525
Ensembl chr12:60,435,273...60,443,520
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 chr12:60,733,967...60,750,951
Ensembl chr12:60,733,907...60,751,265
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 chr12:61,245,976...61,270,154
Ensembl chr12:61,246,062...61,270,151
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 5:6,699,812...6,703,403
Ensembl chr 5:6,699,877...6,703,659
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 chr12:60,652,153...60,729,257
Ensembl chr12:60,652,189...60,729,259
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 chr12:60,443,592...60,468,968
Ensembl chr12:60,443,731...60,469,040
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 chr12:58,879,198...58,894,040
Ensembl chr12:58,816,344...58,923,072
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 3:18,592,785...18,601,273
Ensembl chr 3:18,592,879...18,603,595
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 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 5:6,083,793...6,105,921
Ensembl chr 5:6,083,444...6,105,924
JBrowse link
G ACO2 aconitase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 5:7,014,383...7,071,023
Ensembl chr 5:7,002,124...7,070,999
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 5:6,785,957...6,800,816
Ensembl chr 5:6,785,945...6,799,913
JBrowse link
G CENPM centromere protein M ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 5:6,677,607...6,690,322
Ensembl chr 5:6,677,716...6,690,308
JBrowse link
G CHADL chondroadherin like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 5:7,246,892...7,258,962
Ensembl chr 5:7,247,909...7,253,379
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 5:6,976,121...6,988,604
Ensembl chr 5:6,975,840...6,988,422
JBrowse link
G CYB5R3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 5:6,146,230...6,170,209
Ensembl chr 5:6,146,279...6,170,202
JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,643
JBrowse link
G DESI1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 5:6,929,302...6,954,040
Ensembl chr 5:6,929,329...6,954,037
JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
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 5:7,257,806...7,277,633
Ensembl chr 5:7,253,644...7,277,576
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 5:6,785,957...6,870,599
Ensembl chr 5:6,800,959...6,870,837
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 5:6,580,141...6,587,550
Ensembl chr 5:6,571,037...6,590,546
JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 5:6,562,074...6,567,321
Ensembl chr 5:6,562,011...6,567,647
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 5:6,296,921...6,333,371
Ensembl chr 5:6,298,573...6,336,731
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 5:6,571,628...6,576,993
Ensembl chr 5:6,571,556...6,576,870
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 5:7,071,145...7,080,046
Ensembl chr 5:7,071,271...7,082,696
JBrowse link
G PMM1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 5:6,964,999...6,975,904
Ensembl chr 5:6,964,999...6,975,904
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 5:6,174,442...6,201,941
Ensembl chr 5:6,169,398...6,201,940
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 5:6,999,690...7,014,471
Ensembl chr 5:6,997,444...7,014,422
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 5:7,210,974...7,240,965
Ensembl chr 5:7,210,980...7,241,003
JBrowse link
G RBX1 ring-box 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 5:7,500,492...7,515,388
Ensembl chr 5:7,500,487...7,515,370
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 5:6,208,495...6,217,381
Ensembl chr 5:6,208,452...6,217,374
JBrowse link
G SEPTIN3 septin 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 5:6,631,750...6,657,837
Ensembl chr 5:6,589,864...6,662,432
JBrowse link
G SERHL2 serine hydrolase like 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 5:6,216,323...6,239,811
Ensembl chr 5:6,216,326...6,230,464
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 5:6,711,089...6,716,644
Ensembl chr 5:6,711,535...6,716,364
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 5:6,568,430...6,571,370
Ensembl chr 5:6,568,079...6,571,235
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 5:6,891,014...6,900,026
Ensembl chr 5:6,885,067...6,900,023
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 5:6,719,484...6,784,724
Ensembl chr 5:6,719,487...6,784,672
JBrowse link
G TCF20 transcription factor 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 5:6,430,217...6,534,948
Ensembl chr 5:6,346,473...6,528,053
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 5:7,119,354...7,135,171
Ensembl chr 5:7,119,356...7,144,498
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 5:6,699,812...6,703,403
Ensembl chr 5:6,699,877...6,703,659
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 5:7,086,397...7,098,643
Ensembl chr 5:7,086,587...7,098,627
JBrowse link
G XPNPEP3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 5:7,530,993...7,582,981
Ensembl chr 5:7,530,996...7,582,964
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 5:6,903,496...6,929,162
Ensembl chr 5:6,903,496...6,929,083
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 5:7,148,624...7,201,429
Ensembl chr 5:7,148,633...7,201,056
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 2:11,216,238...11,229,060 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 2:1,625,728...1,641,662
Ensembl chr 2:1,506,652...1,641,667
JBrowse link
Common Variable Immunodeficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4BPA complement component 4 binding protein, alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:67,815,544...67,827,509
Ensembl chr 9:67,726,154...67,829,220
JBrowse link
G C4BPB complement component 4 binding protein beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:67,716,205...67,725,785
Ensembl chr 9:67,698,797...67,725,783
JBrowse link
G C9H1orf116 chromosome 9 C1orf116 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:67,648,333...67,661,384
Ensembl chr 9:67,648,161...67,661,372
JBrowse link
G CD34 CD34 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:134,912,793...134,937,763
Ensembl chr 9:134,913,121...134,937,762
JBrowse link
G CD46 CD46 molecule, complement regulatory protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:135,025,439...135,078,910 JBrowse link
G CD55 CD55 molecule (Cromer blood group) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:67,933,069...67,960,380 JBrowse link
G CR1 complement C3b/C4b receptor 1 (Knops blood group) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:68,025,673...68,132,162 JBrowse link
G FCAMR Fc alpha and mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:67,585,117...67,601,655 JBrowse link
G FCMR Fc mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:67,530,944...67,546,441
Ensembl chr 9:67,532,083...67,546,403
JBrowse link
G IL10 interleukin 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL19 interleukin 19 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:67,469,519...67,479,597
Ensembl chr 9:67,469,350...67,479,662
JBrowse link
G IL20 interleukin 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:67,498,788...67,502,110
Ensembl chr 9:67,498,813...67,502,586
JBrowse link
G IL24 interleukin 24 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:67,525,246...67,532,407
Ensembl chr 9:67,525,557...67,530,738
JBrowse link
G MIR29C microRNA mir-29c ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:135,019,638...135,019,725
Ensembl chr 9:135,019,638...135,019,725
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 chr 9:67,681,786...67,716,921
Ensembl chr 9:67,680,507...67,709,522
JBrowse link
G PIGR polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:67,553,094...67,574,698
Ensembl chr 9:67,552,765...67,574,668
JBrowse link
G PLXNA2 plexin A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:134,584,760...134,800,471
Ensembl chr 9:134,584,406...134,796,064
JBrowse link
G YOD1 YOD1 deubiquitinase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 9:67,672,640...67,681,889
Ensembl chr 9:67,672,648...67,681,843
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 8:77,970,087...78,680,307
Ensembl chr 8:77,970,069...78,680,275
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 8:78,385,176...78,388,008
Ensembl chr 8:78,381,994...78,387,069
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 9:46,264,929...46,277,056
Ensembl chr 9:46,264,929...46,276,996
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:15,887,131...16,229,212
Ensembl chr  X:15,885,412...16,224,238
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 chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
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 chr  X:82,978,128...82,981,038
Ensembl chr  X:82,974,270...82,980,769
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 chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
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:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14311
    syndrome 8454
      primary immunodeficiency disease 3233
        lymphoproliferative syndrome 817
          agammaglobulinemia 223
            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 7
            agammaglobulinemia 5 1
            autosomal recessive osteopetrosis 7 1
            common variable immunodeficiency + 184
            immunodeficiency 59 1
            isolated growth hormone deficiency type III 2
            transient hypogammaglobulinemia + 0
Path 2
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  disease 14311
    disease of anatomical entity 14037
      Immune & Inflammatory Diseases 4374
        immune system disease 3829
          Immunoproliferative Disorders 826
            lymphoproliferative syndrome 817
              agammaglobulinemia 223
                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 7
                agammaglobulinemia 5 1
                autosomal recessive osteopetrosis 7 1
                common variable immunodeficiency + 184
                immunodeficiency 59 1
                isolated growth hormone deficiency type III 2
                transient hypogammaglobulinemia + 0
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