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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 IAGP
EXP
DNA:splice-site mutation
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:10583958 RGD:1600518 NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587
JBrowse link
G BTK Bruton tyrosine kinase susceptibility IAGP
EXP
DNA:insertions, point mutations
CTD Direct Evidence: therapeutic
ClinVar Annotator: match by term: Agammaglobulinemia
CTD
ClinVar
RGD
PMID:10352268 PMID:15142874 PMID:8162018 RGD:1600526 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G CD19 CD19 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD79A CD79a molecule EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
JBrowse link
G CD79B CD79b molecule EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,740...63,932,336
JBrowse link
G IGHM immunoglobulin heavy constant mu EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218
JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14660746 RGD:1599837 NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IEA OMIM:601495 | OMIM:612692 | OMIM:613500 | OMIM:613501 | OMIM:613502 | OMIM:613506 | OMIM:615214 MouseDO NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
G TCF3 transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,290...1,652,615
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 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset
ClinVar
OMIM
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G JAK3 Janus kinase 3 IAGP ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 More... NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G LOC107303343 adenosine deaminase intronic regulatory elements IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar PMID:3684597 PMID:7599635 PMID:8120281 PMID:8178821 PMID:8299233 More... NCBI chr20:44,629,004...44,651,567 JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G RAG1 recombination activating 1 IAGP ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 More... NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,709...36,593,156
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 IAGP ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 More... NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G CD79A CD79a molecule IAGP ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
JBrowse link
G IGH immunoglobulin heavy locus IAGP ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:2115996 PMID:8890099 PMID:12370281 PMID:25741868 NCBI chr14:105,586,437...106,879,844 JBrowse link
G IGHM immunoglobulin heavy constant mu IAGP ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 OMIM
ClinVar
PMID:2115996 PMID:8890099 PMID:12370281 PMID:25741868 NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218
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 IAGP 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 chr11:47,354,860...47,395,607
Ensembl chr11:47,354,860...47,378,547
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 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357
JBrowse link
G C22orf15 chromosome 22 open reading frame 15 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,762,990...23,765,863
Ensembl chr22:23,762,990...23,765,863
JBrowse link
G CABIN1 calcineurin binding protein 1 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:24,011,304...24,178,628
Ensembl chr22:24,011,192...24,178,628
JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972
JBrowse link
G DDT D-dopachrome tautomerase IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,971,370...23,980,504
Ensembl chr22:23,971,365...23,979,828
JBrowse link
G DDTL D-dopachrome tautomerase like IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,966,888...23,972,556
Ensembl chr22:23,966,888...23,972,556
Ensembl chr22:23,966,888...23,972,556
JBrowse link
G DERL3 derlin 3 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,834,503...23,839,006
Ensembl chr22:23,834,503...23,839,128
JBrowse link
G DRICH1 aspartate rich 1 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,580,880...23,632,816
Ensembl chr22:23,608,452...23,632,321
JBrowse link
G GGT5 gamma-glutamyltransferase 5 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:24,219,654...24,245,142
Ensembl chr22:24,219,654...24,245,108
JBrowse link
G GSTT1 glutathione S-transferase theta 1 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532
G GSTT2 glutathione S-transferase theta 2 (gene/pseudogene) IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,980,134...23,983,915
Ensembl chr22:23,980,058...23,983,915
JBrowse link
G GSTT2B glutathione S-transferase theta 2B IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,957,414...23,961,206
Ensembl chr22:23,957,414...23,961,195
JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive OMIM
ClinVar
PMID:9419212 PMID:9536098 PMID:17576681 PMID:25502423 PMID:25741868 More... NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
JBrowse link
G MIF macrophage migration inhibitory factor IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G MMP11 matrix metallopeptidase 11 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,772,849...23,784,316
Ensembl chr22:23,768,226...23,784,316
JBrowse link
G RGL4 ral guanine nucleotide dissociation stimulator like 4 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,691,013...23,699,168
Ensembl chr22:23,688,136...23,699,176
JBrowse link
G SLC2A11 solute carrier family 2 member 11 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,856,934...23,886,312
Ensembl chr22:23,856,703...23,886,312
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
JBrowse link
G SUSD2 sushi domain containing 2 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:24,181,487...24,189,106
Ensembl chr22:24,181,487...24,189,106
JBrowse link
G UPB1 beta-ureidopropionase 1 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390
JBrowse link
G VPREB3 V-set pre-B cell surrogate light chain 3 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,752,743...23,754,425
Ensembl chr22:23,752,743...23,754,425
JBrowse link
G ZNF70 zinc finger protein 70 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr22:23,738,682...23,751,112
Ensembl chr22:23,738,682...23,751,112
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 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:10525050 PMID:11920841 PMID:17576681 PMID:24728327 More... NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
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 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G BLNK B cell linker IAGP ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar
OMIM
PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587
JBrowse link
G CC2D2B coiled-coil and C2 domain containing 2B IAGP ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr10:95,907,671...96,033,745
Ensembl chr10:95,907,603...96,033,745
JBrowse link
G CCNJ cyclin J IAGP ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr10:96,043,068...96,060,870
Ensembl chr10:96,043,394...96,060,870
JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266
JBrowse link
G TCTN3 tectonic family member 3 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
JBrowse link
G ZNF518A zinc finger protein 518A IAGP ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:28492532 NCBI chr10:96,129,715...96,205,291
Ensembl chr10:96,129,715...96,205,288
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 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant OMIM
ClinVar
PMID:14660746 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039
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 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More... NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,740...63,932,336
JBrowse link
G GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More... NCBI chr17:63,917,193...63,958,852 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 IAGP ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive OMIM
ClinVar
PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25741868 More... NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,756...68,301,821
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 IAGP 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 chr19:1,609,292...1,652,615
Ensembl chr19:1,609,290...1,652,615
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 IAGP ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:30718914 NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,445...33,204,439
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 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 9
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III
ClinVar
OMIM
PMID:9536098 PMID:11976687 PMID:17576681 PMID:23319571 PMID:23430113 More... NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
JBrowse link
G RFT1 RFT1 homolog IAGP ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III ClinVar PMID:11976687 PMID:23319571 PMID:23430113 PMID:28492532 NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,088,483...53,130,453
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 IAGP ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 7
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
ClinVar
OMIM
PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
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 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,336,529...7,351,477
Ensembl chr17:7,336,529...7,351,477
JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:6,996,049...7,010,754
Ensembl chr17:6,996,049...7,010,754
JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716
JBrowse link
G ALOX15B arachidonate 15-lipoxygenase type B IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,039,059...8,049,134
Ensembl chr17:8,039,034...8,049,134
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
JBrowse link
G ASGR1 asialoglycoprotein receptor 1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,173,431...7,179,370
Ensembl chr17:7,173,431...7,179,564
JBrowse link
G ASGR2 asialoglycoprotein receptor 2 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,101,322...7,115,146
Ensembl chr17:7,101,322...7,115,700
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
JBrowse link
G AURKB aurora kinase B IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,204,731...8,210,575
Ensembl chr17:8,204,733...8,210,600
JBrowse link
G BCL6B BCL6B transcription repressor IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,023,050...7,029,644
Ensembl chr17:7,023,050...7,030,290
JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,188,345...8,190,180
Ensembl chr17:8,188,345...8,190,180
JBrowse link
G C17orf49 chromosome 17 open reading frame 49 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,014,782...7,017,520
Ensembl chr17:7,014,495...7,017,525
JBrowse link
G CD19 CD19 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD40LG CD40 ligand IAGP ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD68 CD68 molecule IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
JBrowse link
G CD81 CD81 molecule EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,397
JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760
JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
JBrowse link
G CLDN7 claudin 7 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,259,903...7,263,213
Ensembl chr17:7,259,903...7,263,983
JBrowse link
G CLEC10A C-type lectin domain containing 10A IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,074,537...7,080,251
Ensembl chr17:7,074,537...7,080,307
JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,932,081...7,949,920
Ensembl chr17:7,932,101...7,949,920
JBrowse link
G CR2 complement C3d receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,454,230...207,489,895
JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,056
JBrowse link
G CTDNEP1 CTD nuclear envelope phosphatase 1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,243,591...7,251,978
Ensembl chr17:7,243,591...7,252,491
JBrowse link
G CYB5D1 cytochrome b5 domain containing 1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,858,003...7,862,282
Ensembl chr17:7,857,746...7,862,282
JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human) RGD PMID:26476407 RGD:11251730 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,841
JBrowse link
G DNAH2 dynein axonemal heavy chain 2 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,717,744...7,833,742
Ensembl chr17:7,717,744...7,833,742
JBrowse link
G DVL2 dishevelled segment polarity protein 2 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,225,342...7,234,517
Ensembl chr17:7,225,342...7,234,517
JBrowse link
G EFNB3 ephrin B3 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,705,202...7,711,372
Ensembl chr17:7,705,202...7,711,372
JBrowse link
G EIF4A1 eukaryotic translation initiation factor 4A1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,572,825...7,579,006
Ensembl chr17:7,572,824...7,579,006
JBrowse link
G EIF5A eukaryotic translation initiation factor 5A IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463
JBrowse link
G ELP5 elongator acetyltransferase complex subunit 5 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,251,724...7,259,940
Ensembl chr17:7,251,416...7,259,940
JBrowse link
G FBXO39 F-box protein 39 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:6,776,215...6,787,646
Ensembl chr17:6,776,215...6,797,101
JBrowse link
G FCGR2A Fc gamma receptor IIa IEP protein:decreased expression:blood, monocyte RGD PMID:17900300 RGD:5147988 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
JBrowse link
G FGF11 fibroblast growth factor 11 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,438,298...7,444,937
Ensembl chr17:7,438,273...7,444,937
JBrowse link
G FXR2 FMR1 autosomal homolog 2 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,591,230...7,614,897
Ensembl chr17:7,591,230...7,614,897
JBrowse link
G GABARAP GABA type A receptor-associated protein IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,240,008...7,242,449
Ensembl chr17:7,240,008...7,242,449
JBrowse link
G GPS2 G protein pathway suppressor 2 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,312,661...7,315,360
Ensembl chr17:7,311,324...7,315,564
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342
JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphisms (human) RGD PMID:10361244 RGD:5147864 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G ICOS inducible T cell costimulator EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G IKZF1 IKAROS family zinc finger 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
JBrowse link
G IL21 interleukin 21 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IL21 DEFICIENCY
CTD
ClinVar
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL21-AS1 IL21 antisense RNA 1 IAGP ClinVar Annotator: match by term: IL21 DEFICIENCY ClinVar PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 4:122,618,983...122,689,156
Ensembl chr 4:122,618,983...122,689,156
JBrowse link
G IL21R interleukin 21 receptor IAGP DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
JBrowse link
G KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,921,859...7,929,856
Ensembl chr17:7,921,859...7,929,856
JBrowse link
G KCTD11 potassium channel tetramerization domain containing 11 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,352,162...7,354,944
Ensembl chr17:7,351,889...7,354,944
JBrowse link
G KDM6B lysine demethylase 6B IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796
JBrowse link
G LRBA LPS responsive beige-like anchor protein IEA OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767 MouseDO NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
JBrowse link
G MANBA mannosidase beta IAGP ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr 4:102,630,770...102,760,968
Ensembl chr 4:102,630,770...102,760,994
JBrowse link
G MBL2 mannose binding lectin 2 IAGP DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) RGD PMID:10652157 RGD:4889436 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
JBrowse link
G MIR195 microRNA 195 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,017,615...7,017,701
Ensembl chr17:7,017,615...7,017,701
JBrowse link
G MIR497HG mir-497-195 cluster host gene IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,015,818...7,019,654
Ensembl chr17:7,015,818...7,019,659
JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789
JBrowse link
G MS4A1 membrane spanning 4-domains A1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,856,685...7,885,420
Ensembl chr17:7,856,685...7,885,238
JBrowse link
G NEURL4 neuralized E3 ubiquitin protein ligase 4 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,315,628...7,329,335
Ensembl chr17:7,315,628...7,329,393
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar Annotator: match by term: Common variable agammaglobulinemia
CTD
ClinVar
PMID:25741868 PMID:29477724 PMID:32278790 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,331...102,617,302
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency
CTD
ClinVar
PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More... NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G NLGN2 neuroligin 2 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,404,653...7,419,860
Ensembl chr17:7,404,874...7,419,860
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 IEP protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
JBrowse link
G PER1 period circadian regulator 1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,140,472...8,152,404
Ensembl chr17:8,140,472...8,156,506
JBrowse link
G PHF23 PHD finger protein 23 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,235,038...7,240,828
Ensembl chr17:7,235,029...7,239,722
JBrowse link
G PLSCR3 phospholipid scramblase 3 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,389,727...7,394,525
Ensembl chr17:7,389,727...7,394,842
JBrowse link
G POLR2A RNA polymerase II subunit A IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616
JBrowse link
G RAG2 recombination activating 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 More... NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
JBrowse link
G RNASEK ribonuclease K IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,012,624...7,014,532
Ensembl chr17:7,012,417...7,014,532
JBrowse link
G SAT2 spermidine/spermine N1-acetyltransferase family member 2 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,626,234...7,627,876
Ensembl chr17:7,626,234...7,627,876
JBrowse link
G SENP3 SUMO specific peptidase 3 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,561,919...7,571,969
Ensembl chr17:7,561,919...7,571,969
JBrowse link
G SHBG sex hormone binding globulin IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,614,064...7,633,372
Ensembl chr17:7,613,946...7,633,382
JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377
JBrowse link
G SLC16A11 solute carrier family 16 member 11 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,041,621...7,044,092
Ensembl chr17:7,041,621...7,044,092
JBrowse link
G SLC16A13 solute carrier family 16 member 13 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,036,015...7,040,117
Ensembl chr17:7,036,015...7,040,117
JBrowse link
G SLC2A4 solute carrier family 2 member 4 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
JBrowse link
G SLC35G6 solute carrier family 35 member G6 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,481,446...7,483,496
Ensembl chr17:7,481,446...7,483,496
JBrowse link
G SOX15 SRY-box transcription factor 15 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,588,178...7,590,094
Ensembl chr17:7,588,178...7,590,094
JBrowse link
G SPEM1 spermatid maturation 1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,420,324...7,421,632
Ensembl chr17:7,420,324...7,421,632
JBrowse link
G SPEM2 SPEM family member 2 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,425,616...7,427,568
Ensembl chr17:7,425,616...7,427,568
JBrowse link
G TEKT1 tektin 1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:6,797,993...6,831,729
Ensembl chr17:6,789,133...6,831,761
JBrowse link
G TMEM102 transmembrane protein 102 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,435,435...7,437,679
Ensembl chr17:7,435,435...7,437,679
JBrowse link
G TMEM107 transmembrane protein 107 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
G TMEM256 transmembrane protein 256 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,402,975...7,404,097
Ensembl chr17:7,402,975...7,404,097
JBrowse link
G TMEM88 transmembrane protein 88 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,855,066...7,856,099
Ensembl chr17:7,855,066...7,856,099
JBrowse link
G TMEM95 transmembrane protein 95 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,355,156...7,357,219
Ensembl chr17:7,355,123...7,357,219
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP
EXP
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 Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency 2
ClinVar
CTD
PMID:8072530 PMID:15077010 PMID:16007086 PMID:16007087 PMID:16299065 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive
CTD
ClinVar
PMID:28492532 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
JBrowse link
G TNFSF12 TNF superfamily member 12 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chr17:7,549,058...7,557,881
Ensembl chr17:7,549,058...7,557,890
JBrowse link
G TNFSF12-TNFSF13 TNFSF12-TNFSF13 readthrough IAGP ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chr17:7,549,058...7,561,601
Ensembl chr17:7,549,099...7,561,601
JBrowse link
G TNFSF13 TNF superfamily member 13 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,558,282...7,561,601
Ensembl chr17:7,558,292...7,561,608
JBrowse link
G TNK1 tyrosine kinase non receptor 1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,380,047...7,389,742
Ensembl chr17:7,380,534...7,389,774
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TRAPPC1 trafficking protein particle complex subunit 1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,930,345...7,931,999
Ensembl chr17:7,930,345...7,932,123
JBrowse link
G TRG-GCC2-6 tRNA-Gly (anticodon GCC) 2-6 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,125,746...8,125,816 JBrowse link
G TRK-TTT3-5 tRNA-Lys (anticodon TTT) 3-5 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,119,155...8,119,227 JBrowse link
G TRL-TAG1-1 tRNA-Leu (anticodon TAG) 1-1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,120,314...8,120,395 JBrowse link
G TRQ-CTG1-5 tRNA-Gln (anticodon CTG) 1-5 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,119,752...8,119,823 JBrowse link
G TRR-TCT2-1 tRNA-Arg (anticodon TCT) 2-1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,120,925...8,121,012 JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,916,157...47,076,137
JBrowse link
G VAMP2 vesicle associated membrane protein 2 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:8,159,147...8,162,948
Ensembl chr17:8,159,149...8,163,546
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
JBrowse link
G XAF1 XIAP associated factor 1 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:6,755,447...6,775,647
Ensembl chr17:6,755,447...6,775,647
JBrowse link
G YBX2 Y-box binding protein 2 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,288,263...7,294,639
Ensembl chr17:7,288,263...7,294,639
JBrowse link
G ZBTB4 zinc finger and BTB domain containing 4 IAGP ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr17:7,459,378...7,484,249
Ensembl chr17:7,459,366...7,484,263
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 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 1 ClinVar PMID:11343122 PMID:12577056 PMID:19380800 PMID:28492532 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G ICOS inducible T cell costimulator IAGP ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar Annotator: match by term: Common variable immunodeficiency 1
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT
OMIM
ClinVar
PMID:9536098 PMID:11343122 PMID:12577056 PMID:15507387 PMID:17576681 More... NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 1 ClinVar PMID:24140114 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
Common Variable Immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC121815964 Sharpr-MPRA regulatory region 13585 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 10
ClinVar Annotator: match by term: Immunodeficiency, common variable, 10
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:102,397,772...102,398,066 JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP ClinVar Annotator: match by term: Immunodeficiency, common variable, 10
ClinVar Annotator: match by term: Common variable immunodeficiency 10
OMIM
ClinVar
PMID:9536098 PMID:16303288 PMID:17576681 PMID:22013103 PMID:24033266 More... NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
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 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 11 ClinVar
OMIM
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL21-AS1 IL21 antisense RNA 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 11 ClinVar PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 4:122,618,983...122,689,156
Ensembl chr 4:122,618,983...122,689,156
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 IAGP ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 ClinVar
OMIM
PMID:11583829 PMID:16639407 PMID:25741868 PMID:26279205 PMID:27365489 More... NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,331...102,617,302
JBrowse link
G NFKBID NFKB inhibitor delta IAGP ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 ClinVar NCBI chr19:35,887,952...35,902,303
Ensembl chr19:35,887,653...35,902,303
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 IAGP ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 ClinVar
OMIM
PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:28927821 More... NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
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 IAGP ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 14
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:27016798 PMID:28492532 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
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 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760
JBrowse link
G ALKBH5 alkB homolog 5, RNA demethylase IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,183,828...18,209,954
Ensembl chr17:18,183,078...18,209,954
JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209
JBrowse link
G B9D1 B9 domain containing 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
JBrowse link
G COPS3 COP9 signalosome subunit 3 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:17,246,616...17,281,246
Ensembl chr17:17,246,616...17,281,273
JBrowse link
G CR2 complement C3d receptor 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:25741868 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,454,230...207,489,895
JBrowse link
G DRC3 dynein regulatory complex subunit 3 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:17,972,813...18,016,889
Ensembl chr17:17,972,813...18,016,889
JBrowse link
G DRG2 developmentally regulated GTP binding protein 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,087,948...18,107,969
Ensembl chr17:18,087,892...18,107,970
JBrowse link
G EPN2 epsin 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:19,237,366...19,336,715
Ensembl chr17:19,215,615...19,336,715
JBrowse link
G EVPLL envoplakin like IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,377,778...18,389,647
Ensembl chr17:18,377,778...18,389,647
JBrowse link
G FAM83G family with sequence similarity 83 member G IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,968,789...19,006,116
Ensembl chr17:18,968,789...19,004,764
JBrowse link
G FBXW10 F-box and WD repeat domain containing 10 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,744,054...18,779,349
Ensembl chr17:18,744,026...18,779,349
JBrowse link
G FLCN folliculin IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188
JBrowse link
G FLII FLII actin remodeling protein IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
JBrowse link
G GID4 GID complex subunit 4 homolog IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,039,408...18,068,405
Ensembl chr17:18,039,408...18,068,405
JBrowse link
G GRAP GRB2 related adaptor protein IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:19,020,656...19,051,373
Ensembl chr17:19,020,656...19,047,011
JBrowse link
G GRAPL GRB2 related adaptor protein like IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:19,127,589...19,159,187
Ensembl chr17:19,127,535...19,159,187
JBrowse link
G LGALS9C galectin 9C IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,476,789...18,494,945
Ensembl chr17:18,476,737...18,494,945
JBrowse link
G LLGL1 LLGL scribble cell polarity complex component 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,225,635...18,244,875
Ensembl chr17:18,225,635...18,244,875
JBrowse link
G MAPK7 mitogen-activated protein kinase 7 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:19,377,750...19,383,544
Ensembl chr17:19,377,721...19,383,544
JBrowse link
G MED9 mediator complex subunit 9 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:17,477,000...17,493,221
Ensembl chr17:17,476,994...17,493,221
JBrowse link
G MFAP4 microfibril associated protein 4 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:19,383,445...19,387,190
Ensembl chr17:19,383,442...19,387,190
JBrowse link
G MIEF2 mitochondrial elongation factor 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,260,662...18,266,552
Ensembl chr17:18,260,597...18,266,552
JBrowse link
G MIR33B microRNA 33b IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:17,813,836...17,813,931
Ensembl chr17:17,813,836...17,813,931
JBrowse link
G MPRIP myosin phosphatase Rho interacting protein IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:17,042,457...17,192,643
Ensembl chr17:17,042,457...17,217,679
JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802
JBrowse link
G NT5M 5',3'-nucleotidase, mitochondrial IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:17,303,373...17,347,663
Ensembl chr17:17,303,335...17,347,663
JBrowse link
G PEMT phosphatidylethanolamine N-methyltransferase IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:17,505,563...17,592,142
Ensembl chr17:17,505,563...17,591,708
JBrowse link
G PLD6 phospholipase D family member 6 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:17,200,995...17,206,333
Ensembl chr17:17,200,995...17,206,333
JBrowse link
G PRPSAP2 phosphoribosyl pyrophosphate synthetase associated protein 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,856,299...18,931,287
Ensembl chr17:18,840,085...18,931,287
JBrowse link
G RAI1 retinoic acid induced 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RASD1 ras related dexamethasone induced 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:17,494,437...17,496,395
Ensembl chr17:17,494,437...17,496,395
JBrowse link
G RNF112 ring finger protein 112 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:19,411,232...19,417,276
Ensembl chr17:19,411,125...19,417,276
JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,327,873...18,363,550
Ensembl chr17:18,327,860...18,363,563
JBrowse link
G SLC47A1 solute carrier family 47 member 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:19,533,854...19,579,034
Ensembl chr17:19,495,385...19,579,034
JBrowse link
G SLC5A10 solute carrier family 5 member 10 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,950,676...19,022,565
Ensembl chr17:18,950,345...19,022,595
JBrowse link
G SMCR8 SMCR8-C9orf72 complex subunit IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,315,293...18,328,056
Ensembl chr17:18,315,293...18,328,056
JBrowse link
G SNORD3A small nucleolar RNA, C/D box 3A IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:19,188,016...19,188,232
Ensembl chr17:19,188,016...19,188,714
JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
JBrowse link
G TBC1D28 TBC1 domain family member 28 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,634,247...18,644,391
Ensembl chr17:18,634,247...18,644,427
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar Annotator: match by term: Common variable immunodeficiency 2
OMIM
ClinVar
PMID:8072530 PMID:9536098 PMID:15077010 PMID:16007086 PMID:16007087 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
JBrowse link
G TOM1L2 target of myb1 like 2 membrane trafficking protein IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:17,843,511...17,972,400
Ensembl chr17:17,843,511...17,972,422
JBrowse link
G TOP3A DNA topoisomerase III alpha IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007
JBrowse link
G TRIM16L tripartite motif containing 16 like IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,697,998...18,736,112
Ensembl chr17:18,697,998...18,736,118
JBrowse link
G TVP23B trans-golgi network vesicle protein 23 homolog B IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr17:18,781,183...18,806,714
Ensembl chr17:18,781,111...18,806,714
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 IAGP ClinVar Annotator: match by term: Immunodeficiency, common variable, 3
ClinVar Annotator: match by term: Common variable immunodeficiency 3
OMIM
ClinVar
PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 More... NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
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) IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:42,692,121...42,721,301
Ensembl chr22:42,692,121...42,721,298
JBrowse link
G ACO2 aconitase 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,469,117...41,528,974
Ensembl chr22:41,447,830...41,529,273
JBrowse link
G AL023553.1 novel transcript, antisense to TSPO IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,551,709...41,560,883
Ensembl chr22:41,551,710...41,560,905
JBrowse link
G ATP5MGL ATP synthase membrane subunit g like IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:42,639,803...42,640,601
Ensembl chr22:42,639,803...42,640,601
JBrowse link
G CCDC134 coiled-coil domain containing 134 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,679...41,832,164
JBrowse link
G CENPM centromere protein M IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,927,196...41,947,152
Ensembl chr22:41,938,737...41,947,152
JBrowse link
G CHADL chondroadherin like IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:41,229,513...41,240,931
Ensembl chr22:41,229,510...41,240,931
JBrowse link
G CSDC2 cold shock domain containing C2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,561,010...41,576,666
Ensembl chr22:41,561,010...41,577,741
JBrowse link
G CYB5R3 cytochrome b5 reductase 3 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:42,617,840...42,649,392
Ensembl chr22:42,615,730...42,720,870
JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,865
JBrowse link
G DESI1 desumoylating isopeptidase 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,598,028...41,621,043
Ensembl chr22:41,598,028...41,621,043
JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:41,205,312...41,231,271
Ensembl chr22:41,205,282...41,231,271
JBrowse link
G L3MBTL2-AS1 L3MBTL2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:41,209,122...41,217,627 JBrowse link
G LOC108348030 CAGE-defined B cell enhancer downstream of CENPM IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,935,818...41,936,890 JBrowse link
G LOC110740341 CYP2D6 downstream enhancer IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:42,015,689...42,018,126 JBrowse link
G LOC111562373 HNF4 motif-containing MPRA enhancer 178 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,402,468...41,402,612 JBrowse link
G LOC112695098 Sharpr-MPRA regulatory region 731 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,512,845...41,513,139 JBrowse link
G LOC121627945 Sharpr-MPRA regulatory region 9842 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,381,625...41,381,919 JBrowse link
G LOC121627946 Sharpr-MPRA regulatory region 3167 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,565,625...41,565,919 JBrowse link
G MEI1 meiotic double-stranded break formation protein 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,699,503...41,799,454
Ensembl chr22:41,699,503...41,799,456
JBrowse link
G MIR33A microRNA 33a IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,900,944...41,901,012
Ensembl chr22:41,900,944...41,901,012
JBrowse link
G MIR378I microRNA 378i IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,923,222...41,923,297
Ensembl chr22:41,923,222...41,923,297
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842
JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884
JBrowse link
G NFAM1 NFAT activating protein with ITAM motif 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:42,380,407...42,437,986
Ensembl chr22:42,380,407...42,432,403
JBrowse link
G PHETA2 PH domain containing endocytic trafficking adaptor 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:42,074,248...42,079,438
Ensembl chr22:42,074,248...42,079,438
JBrowse link
G PHF5A PHD finger protein 5A IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,459,717...41,468,692
Ensembl chr22:41,459,717...41,468,692
JBrowse link
G PMM1 phosphomannomutase 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,576,900...41,589,840
Ensembl chr22:41,576,900...41,589,871
JBrowse link
G POLDIP3 DNA polymerase delta interacting protein 3 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:42,583,721...42,614,883
Ensembl chr22:42,583,721...42,614,962
JBrowse link
G POLR3H RNA polymerase III subunit H IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606
JBrowse link
G RANGAP1 Ran GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,244,779...41,302,369
Ensembl chr22:41,244,779...41,286,187
JBrowse link
G RBX1 ring-box 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:40,951,378...40,973,309
Ensembl chr22:40,951,347...40,973,309
JBrowse link
G RRP7A ribosomal RNA processing 7 homolog A IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:42,508,344...42,519,796
Ensembl chr22:42,508,344...42,519,796
JBrowse link
G SEPTIN3 septin 3 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,969,443...41,998,221
Ensembl chr22:41,969,443...41,998,221
JBrowse link
G SERHL2 serine hydrolase like 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:42,553,956...42,574,382
Ensembl chr22:42,553,617...42,574,382
JBrowse link
G SHISA8 shisa family member 8 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,909,543...41,915,074
Ensembl chr22:41,909,543...41,915,074
JBrowse link
G SMDT1 single-pass membrane protein with aspartate rich tail 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:42,079,700...42,084,284
Ensembl chr22:42,079,691...42,084,284
JBrowse link
G SMIM45 small integral membrane protein 45 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,946,949...41,958,939
Ensembl chr22:41,952,174...41,958,933
JBrowse link
G SNU13 small nuclear ribonucleoprotein 13 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,673,933...41,690,480
Ensembl chr22:41,673,933...41,690,504
JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,833,105...41,907,305
Ensembl chr22:41,833,079...41,907,307
JBrowse link
G SREBF2-AS1 SREBF2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,827,481...41,834,665
Ensembl chr22:41,831,215...41,834,665
JBrowse link
G TCF20 transcription factor 20 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:42,160,013...42,343,537
Ensembl chr22:42,160,013...42,343,616
JBrowse link
G TEF TEF transcription factor, PAR bZIP family member IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,367,455...41,399,326
Ensembl chr22:41,367,333...41,399,326
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar Annotator: match by term: Common variable immunodeficiency 4
OMIM
ClinVar
PMID:19666484 PMID:21041452 PMID:25741868 PMID:28492532 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
JBrowse link
G TOB2 transducer of ERBB2, 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,433,494...41,446,801
Ensembl chr22:41,433,494...41,446,801
JBrowse link
G WBP2NL WBP2 N-terminal like IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,998,788...42,058,371
Ensembl chr22:41,998,725...42,058,456
JBrowse link
G XPNPEP3 X-prolyl aminopeptidase 3 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:28492532 NCBI chr22:40,857,148...40,932,815
Ensembl chr22:40,857,077...40,932,815
JBrowse link
G XRCC6 X-ray repair cross complementing 6 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,621,295...41,664,041
Ensembl chr22:41,621,163...41,664,048
JBrowse link
G ZC3H7B zinc finger CCCH-type containing 7B IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr22:41,301,525...41,360,147
Ensembl chr22:41,301,525...41,360,147
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 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 5 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
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 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 6
ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 6
OMIM
ClinVar
PMID:20237408 PMID:25741868 PMID:28492532 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,397
JBrowse link
Common Variable Immunodeficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1orf116 chromosome 1 open reading frame 116 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:207,018,522...207,032,756
Ensembl chr 1:207,018,522...207,032,756
JBrowse link
G C4BPA complement component 4 binding protein alpha IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:207,104,233...207,144,972
Ensembl chr 1:207,104,233...207,144,972
JBrowse link
G C4BPB complement component 4 binding protein beta IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:207,088,860...207,099,993
Ensembl chr 1:207,088,860...207,099,993
JBrowse link
G CD34 CD34 molecule IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:207,880,972...207,911,125
Ensembl chr 1:207,880,972...207,911,402
JBrowse link
G CD46 CD46 molecule IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G CD55 CD55 molecule (Cromer blood group) IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804
JBrowse link
G CR1 complement C3b/C4b receptor 1 (Knops blood group) IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:207,496,157...207,641,765
Ensembl chr 1:207,496,147...207,641,765
JBrowse link
G CR1L complement C3b/C4b receptor 1 like IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:207,645,133...207,723,703
Ensembl chr 1:207,645,113...207,738,416
JBrowse link
G CR2 complement C3d receptor 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24033266 More... NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,454,230...207,489,895
JBrowse link
G FCAMR Fc alpha and mu receptor IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:206,957,967...206,970,638
Ensembl chr 1:206,957,965...206,970,625
JBrowse link
G FCMR Fc mu receptor IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:206,903,317...206,921,941
Ensembl chr 1:206,903,317...206,923,247
JBrowse link
G IL10 interleukin 10 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL19 interleukin 19 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981
JBrowse link
G IL20 interleukin 20 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:206,863,565...206,869,223
Ensembl chr 1:206,865,623...206,869,223
JBrowse link
G IL24 interleukin 24 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:206,897,443...206,904,139
Ensembl chr 1:206,897,443...206,904,139
JBrowse link
G MIR29B2CHG MIR29B2 and MIR29C host gene IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:207,801,518...207,822,703
Ensembl chr 1:207,801,518...207,879,115
JBrowse link
G MIR29C microRNA 29c IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:207,801,852...207,801,939
Ensembl chr 1:207,801,852...207,801,939
JBrowse link
G PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:207,034,416...207,081,027
Ensembl chr 1:207,034,366...207,081,024
JBrowse link
G PIGR polymeric immunoglobulin receptor IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:206,928,522...206,946,466
Ensembl chr 1:206,928,522...206,946,466
JBrowse link
G PLXNA2 plexin A2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:208,022,242...208,244,384
Ensembl chr 1:208,022,242...208,244,384
JBrowse link
G YOD1 YOD1 deubiquitinase IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 7 ClinVar PMID:28492532 NCBI chr 1:207,043,849...207,053,116
Ensembl chr 1:207,043,849...207,052,980
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 LOC108281188 LRBA intron ENCODE-defined enhancer IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:22608502 PMID:28492532 NCBI chr 4:151,004,096...151,004,710 JBrowse link
G LOC123493216 Sharpr-MPRA regulatory region 13510 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:28492532 NCBI chr 4:150,337,817...150,338,111 JBrowse link
G LOC123493218 Sharpr-MPRA regulatory region 7547 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:28492532 NCBI chr 4:150,722,957...150,723,251 JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608502 PMID:22721650 More... NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
JBrowse link
G MAB21L2 mab-21 like 2 IAGP ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:26206937 PMID:26768763 PMID:28492532 NCBI chr 4:150,582,151...150,584,693
Ensembl chr 4:150,582,151...150,584,693
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 IAGP ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality OMIM
ClinVar
PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227
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 IAGP ClinVar Annotator: match by term: Agammaglobulinemia X-linked type 2 OMIM
ClinVar
PMID:29636373 NCBI chr  X:19,533,977...19,887,600
Ensembl chr  X:19,533,977...19,887,600
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 IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar
OMIM
PMID:3486747 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 More... NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:11956200 PMID:21984432 PMID:22736418 PMID:28492532 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742
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 IAGP
IMP
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: X-linked agammaglobulinemia
Human gene in mouse model
human gene in a mouse model
ClinVar Annotator: match by term: Hypoagammaglobulinemia, X-linked
ClinVar
OMIM
RGD
PMID:2896233 PMID:4697357 PMID:7554467 PMID:7633429 PMID:7678697 More... RGD:11040588, RGD:124715475, RGD:124713551, RGD:11040698 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISS OMIM:300310 | OMIM:300755 MouseDO NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,756...68,301,821
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 IAGP ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked ClinVar PMID:8758136 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21669
    syndrome 10816
      primary immunodeficiency disease 3764
        lymphoproliferative syndrome 930
          agammaglobulinemia 278
            Achondroplasia and Swiss Type Agammaglobulinemia 0
            Agammaglobulinemia 1, Autosomal Recessive 4
            Agammaglobulinemia 10, Autosomal Dominant 1
            Agammaglobulinemia 2, Autosomal Recessive 23
            Agammaglobulinemia 3, Autosomal Recessive 1
            Agammaglobulinemia 6, Autosomal Recessive 2
            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 + 3
            adenosine deaminase deficiency 5
            agammaglobulinemia 4 7
            agammaglobulinemia 5 1
            autosomal recessive osteopetrosis 7 1
            common variable immunodeficiency + 228
            immunodeficiency 59 1
            isolated growth hormone deficiency type III 2
            transient hypogammaglobulinemia + 0
Path 2
Term Annotations click to browse term
  disease 21669
    disease of anatomical entity 20319
      Immune & Inflammatory Diseases 5133
        immune system disease 4496
          Immunoproliferative Disorders 941
            lymphoproliferative syndrome 930
              agammaglobulinemia 278
                Achondroplasia and Swiss Type Agammaglobulinemia 0
                Agammaglobulinemia 1, Autosomal Recessive 4
                Agammaglobulinemia 10, Autosomal Dominant 1
                Agammaglobulinemia 2, Autosomal Recessive 23
                Agammaglobulinemia 3, Autosomal Recessive 1
                Agammaglobulinemia 6, Autosomal Recessive 2
                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 + 3
                adenosine deaminase deficiency 5
                agammaglobulinemia 4 7
                agammaglobulinemia 5 1
                autosomal recessive osteopetrosis 7 1
                common variable immunodeficiency + 228
                immunodeficiency 59 1
                isolated growth hormone deficiency type III 2
                transient hypogammaglobulinemia + 0
paths to the root