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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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



show annotations for term's descendants           Sort by:
 
agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blnk B cell linker susceptibility ISO DNA:splice-site mutation
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:10583958 RGD:1600518 NCBI chr19:40,917,371...40,982,664
Ensembl chr19:40,917,371...40,982,978
JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase susceptibility ISO DNA:insertions, point mutations
ClinVar Annotator: match by term: Agammaglobulinemia
CTD Direct Evidence: therapeutic
ClinVar
CTD
RGD
PMID:10352268 PMID:15142874 PMID:8162018 RGD:1600526 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319
JBrowse link
G Cd19 CD19 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061
JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622
JBrowse link
G Cd79b CD79B antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588
JBrowse link
G Ighm immunoglobulin heavy constant mu ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:113,382,446...113,386,350
Ensembl chr12:113,382,178...113,386,350
JBrowse link
G Lrrc8a leucine rich repeat containing 8A VRAC subunit A ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14660746 RGD:1599837 NCBI chr 2:30,127,781...30,153,802
Ensembl chr 2:30,127,727...30,153,802
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISS OMIM:601495 | OMIM:612692 | OMIM:613500 | OMIM:613501 | OMIM:613502 | OMIM:613506 | OMIM:615214 MouseDO NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481
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
IEA
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:102700
OMIM
ClinVar
MouseDO
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr 2:163,568,491...163,592,161
Ensembl chr 2:163,568,504...163,592,159
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 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
JBrowse link
G LOC107372314 adenosine deaminase intronic regulatory elements ISO 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 chr 2:163,577,759...163,588,199 JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083
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 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846
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 agammaglobulinemia 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:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319
JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622
JBrowse link
G Ighm immunoglobulin heavy constant mu ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 OMIM
ClinVar
PMID:2115996 PMID:8890099 PMID:12370281 PMID:25741868 NCBI chr12:113,382,446...113,386,350
Ensembl chr12:113,382,178...113,386,350
JBrowse link
Agammaglobulinemia 10, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spi1 spleen focus forming virus (SFFV) proviral integration 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 2:90,912,750...90,946,104
Ensembl chr 2:90,912,735...90,946,101
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 chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618
JBrowse link
G Cabin1 calcineurin binding protein 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,481,944...75,600,194
Ensembl chr10:75,481,946...75,600,175
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 chr10:75,768,964...75,773,584
Ensembl chr10:75,768,964...75,773,581
JBrowse link
G Ddt D-dopachrome tautomerase ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,607,067...75,609,208
Ensembl chr10:75,607,064...75,609,248
JBrowse link
G Derl3 Der1-like domain family, member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,729,232...75,731,775
Ensembl chr10:75,729,247...75,731,775
JBrowse link
G Ggt5 gamma-glutamyltransferase 5 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,425,161...75,453,034
Ensembl chr10:75,425,174...75,453,034
JBrowse link
G Gm867 predicted gene 867 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,773,553...75,776,508
Ensembl chr10:75,773,557...75,776,506
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
JBrowse link
G Gstt2 glutathione S-transferase, theta 2 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,667,676...75,673,253
Ensembl chr10:75,666,948...75,673,258
JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,759,056...75,768,336
Ensembl chr10:75,759,056...75,772,330
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 chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451
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 chr10:75,047,872...75,148,234
Ensembl chr10:75,047,905...75,148,577
JBrowse link
G Susd2 sushi domain containing 2 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,472,453...75,479,842
Ensembl chr10:75,472,540...75,479,842
JBrowse link
G Upb1 ureidopropionase, beta ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,242,745...75,277,513
Ensembl chr10:75,236,949...75,277,513
JBrowse link
G Vpreb3 pre-B lymphocyte gene 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,778,859...75,785,491
Ensembl chr10:75,778,891...75,785,491
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 antigen (immunoglobulin-associated alpha) 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 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622
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 chr19:40,538,701...40,576,907
Ensembl chr19:40,538,701...40,576,907
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 chr19:40,917,371...40,982,664
Ensembl chr19:40,917,371...40,982,978
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 chr19:40,737,197...40,818,227
Ensembl chr19:40,737,197...40,816,187
JBrowse link
G Ccnj cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr19:40,819,345...40,837,016
Ensembl chr19:40,819,723...40,837,016
JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr19:40,600,810...40,730,046
Ensembl chr19:40,600,810...40,730,046
JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr19:40,584,890...40,600,768
Ensembl chr19:40,584,890...40,600,677
JBrowse link
G Zfp518a zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:28492532 NCBI chr19:40,882,472...40,906,391
Ensembl chr19:40,883,149...40,906,391
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 8A 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 2:30,127,781...30,153,802
Ensembl chr 2:30,127,727...30,153,802
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 antigen ISO ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More... NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588
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 chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
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 chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481
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 (zinc transporter), member 7 ISO ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive OMIM
ClinVar
PMID:30718914 NCBI chr17:34,247,240...34,250,664
Ensembl chr17:34,247,243...34,250,656
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 chr14:30,317,310...30,348,637
Ensembl chr14:30,317,311...30,348,167
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 chr14:30,375,041...30,413,274
Ensembl chr14:30,376,317...30,413,274
JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator 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 1:105,708,448...105,777,172
Ensembl chr 1:105,708,443...105,775,709
JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 0610010K14Rik RIKEN cDNA 0610010K14 gene ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,126,030...70,128,808
Ensembl chr11:70,126,032...70,128,740
JBrowse link
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,901,009...69,906,254
Ensembl chr11:69,901,009...69,906,237
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 chr11:69,772,393...69,786,390
Ensembl chr11:69,772,393...69,786,365
JBrowse link
G Alox12 arachidonate 12-lipoxygenase ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,132,283...70,146,206
Ensembl chr11:70,132,283...70,146,179
JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,047,898...69,060,617
Ensembl chr11:69,047,815...69,060,618
JBrowse link
G Alox8 arachidonate 8-lipoxygenase ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,074,711...69,088,669
Ensembl chr11:69,074,758...69,088,669
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,016,243...69,039,941
Ensembl chr11:69,016,722...69,039,941
JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,939,735...69,948,721
Ensembl chr11:69,944,911...69,948,720
JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,983,470...69,997,013
Ensembl chr11:69,983,470...69,997,013
JBrowse link
G Atp1b2 ATPase, Na+/K+ transporting, beta 2 polypeptide ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,490,554...69,496,786
Ensembl chr11:69,490,562...69,496,768
JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:68,936,450...68,942,490
Ensembl chr11:68,936,473...68,942,490
JBrowse link
G Bcl6b B cell CLL/lymphoma 6, member B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,114,953...70,120,624
Ensembl chr11:70,114,954...70,120,624
JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:68,950,601...68,952,402
Ensembl chr11:68,950,543...68,952,404
JBrowse link
G Cd19 CD19 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 NCBI chr  X:56,257,503...56,269,402
Ensembl chr  X:56,257,503...56,269,402
JBrowse link
G Cd68 CD68 antigen ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,555,039...69,556,996
Ensembl chr11:69,555,039...69,556,979
JBrowse link
G Cd81 CD81 antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:142,606,487...142,621,667
Ensembl chr 7:142,606,476...142,621,671
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,234,099...69,260,325
Ensembl chr11:69,234,099...69,260,232
JBrowse link
G Chrnb1 cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,674,862...69,686,791
Ensembl chr11:69,674,862...69,686,769
JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,855,605...69,858,712
Ensembl chr11:69,855,605...69,858,711
JBrowse link
G Clec10a C-type lectin domain family 10, member A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,057,449...70,061,662
Ensembl chr11:70,047,023...70,061,660
JBrowse link
G Cntrob centrobin, centrosomal BRCA2 interacting protein ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,188,735...69,214,720
Ensembl chr11:69,190,313...69,214,601
JBrowse link
G Cr2 complement receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:194,819,120...194,859,096
Ensembl chr 1:194,819,119...194,859,024
JBrowse link
G Ctc1 CTS telomere maintenance complex component 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299
JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,871,994...69,881,427
Ensembl chr11:69,871,982...69,881,427
JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,281,756...69,287,005
Ensembl chr11:69,282,751...69,286,457
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 chr 2:3,425,112...3,475,248
Ensembl chr 2:3,425,168...3,465,167
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,908,029...69,938,107
Ensembl chr11:69,907,768...69,938,348
JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,311,635...69,439,934
Ensembl chr11:69,311,635...69,439,936
JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,891,418...69,900,935
Ensembl chr11:69,891,421...69,903,127
JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,444,918...69,452,428
Ensembl chr11:69,444,918...69,451,031
JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,557,762...69,563,249
Ensembl chr11:69,557,762...69,563,249
JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,807,538...69,812,784
Ensembl chr11:69,807,540...69,812,784
JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,859,050...69,872,352
Ensembl chr11:69,859,048...69,873,343
JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:72,205,270...72,210,245
Ensembl chr11:72,205,270...72,210,242
JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,686,894...69,693,775
Ensembl chr11:69,686,894...69,692,683
JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,523,788...69,544,123
Ensembl chr11:69,523,816...69,544,123
JBrowse link
G Gabarap gamma-aminobutyric acid receptor associated protein ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,882,196...69,885,775
Ensembl chr11:69,881,969...69,885,777
JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,804,805...69,807,882
Ensembl chr11:69,804,714...69,807,417
JBrowse link
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms (human) RGD PMID:10361244 RGD:5147864 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,009,783...69,014,880
Ensembl chr11:69,011,230...69,014,881
JBrowse link
G Icos inducible T cell co-stimulator IEA
ISO
OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926
JBrowse link
G Il21 interleukin 21 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IL21 DEFICIENCY
CTD
ClinVar
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
JBrowse link
G Il21r interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742
JBrowse link
G Kcnab3 potassium voltage-gated channel, shaker-related subfamily, beta member 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,217,084...69,223,867
Ensembl chr11:69,217,084...69,223,868
JBrowse link
G Kctd11 potassium channel tetramerisation domain containing 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,769,090...69,771,811
Ensembl chr11:69,769,087...69,772,232
JBrowse link
G Kdm6b KDM1 lysine (K)-specific demethylase 6B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,289,334...69,311,188
Ensembl chr11:69,289,334...69,304,501
JBrowse link
G Lrba LPS-responsive beige-like anchor ISS OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767 MouseDO NCBI chr 3:86,130,763...86,690,001
Ensembl chr 3:86,131,987...86,689,999
JBrowse link
G Manba mannosidase, beta A, lysosomal ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 NCBI chr 3:135,191,367...135,277,165
Ensembl chr 3:135,191,372...135,277,165
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) RGD PMID:10652157 RGD:4889436 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
JBrowse link
G Mir195a microRNA 195a ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,125,868...70,125,961
Ensembl chr11:70,125,868...70,125,961
JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,547,523...69,553,475
Ensembl chr11:69,547,523...69,553,468
JBrowse link
G Ms4a1 membrane-spanning 4-domains, subfamily A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:11,227,043...11,243,513
Ensembl chr19:11,227,039...11,243,605
JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,286,617...69,287,497
Ensembl chr11:69,286,313...69,287,506
JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,792,545...69,804,650
Ensembl chr11:69,791,898...69,804,646
JBrowse link
G Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable agammaglobulinemia
CTD
ClinVar
PMID:25741868 PMID:29477724 PMID:32278790 NCBI chr 3:135,290,416...135,397,728
Ensembl chr 3:135,290,416...135,397,308
JBrowse link
G Nfkb2 nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 IEA
ISO
OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767
ClinVar Annotator: match by term: Common variable agammaglobulinemia
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More... NCBI chr19:46,285,478...46,300,839
Ensembl chr19:46,292,759...46,300,824
JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,713,949...69,728,610
Ensembl chr11:69,713,948...69,728,610
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
JBrowse link
G Per1 period circadian clock 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:68,985,934...69,000,791
Ensembl chr11:68,986,043...69,000,786
JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,886,592...69,890,837
Ensembl chr11:69,886,603...69,890,835
JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,734,937...69,742,884
Ensembl chr11:69,737,202...69,742,884
JBrowse link
G Polr2a polymerase (RNA) II (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,624,823...69,649,459
Ensembl chr11:69,624,823...69,649,463
JBrowse link
G Rag2 recombination activating gene 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 More... NCBI chr 2:101,455,057...101,462,873
Ensembl chr 2:101,455,063...101,462,874
JBrowse link
G Rnasek ribonuclease, RNase K ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,128,949...70,130,678
Ensembl chr11:70,126,032...70,130,656
Ensembl chr11:70,126,032...70,130,656
JBrowse link
G Sat2 spermidine/spermine N1-acetyl transferase 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,512,824...69,514,857
Ensembl chr11:69,512,850...69,514,696
JBrowse link
G Senp3 SUMO/sentrin specific peptidase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,563,936...69,572,910
Ensembl chr11:69,563,941...69,572,910
JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,501,108...69,508,852
Ensembl chr11:69,505,630...69,508,731
JBrowse link
G Slc13a5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:72,132,816...72,158,092
Ensembl chr11:72,132,815...72,158,048
JBrowse link
G Slc16a11 solute carrier family 16 (monocarboxylic acid transporters), member 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,104,713...70,107,240
Ensembl chr11:70,103,578...70,107,243
JBrowse link
G Slc16a13 solute carrier family 16 (monocarboxylic acid transporters), member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:70,107,615...70,113,638
Ensembl chr11:70,107,615...70,111,890
JBrowse link
G Slc2a4 solute carrier family 2 (facilitated glucose transporter), member 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,833,112...69,839,040
Ensembl chr11:69,833,365...69,839,014
JBrowse link
G Sox15 SRY (sex determining region Y)-box 15 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,545,863...69,547,553
Ensembl chr11:69,546,140...69,547,553
JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,711,697...69,712,991
Ensembl chr11:69,711,702...69,713,006
JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,707,386...69,709,313
Ensembl chr11:69,707,392...69,709,291
JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:72,235,543...72,253,268
Ensembl chr11:72,235,548...72,253,268
JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,694,421...69,696,450
Ensembl chr11:69,694,429...69,696,450
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:68,961,635...68,964,119
Ensembl chr11:68,961,632...68,964,119
JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,729,198...69,730,444
Ensembl chr11:69,729,340...69,730,444
JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,287,342...69,289,060
Ensembl chr11:69,287,345...69,289,060
JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,766,880...69,768,997
Ensembl chr11:69,766,883...69,768,879
JBrowse link
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency
CTD
ClinVar
PMID:8072530 PMID:15077010 PMID:16007086 PMID:16007087 PMID:16299065 More... NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198
JBrowse link
G Tnfrsf13c tumor necrosis factor receptor superfamily, member 13c ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive
CTD
ClinVar
PMID:28492532 NCBI chr15:82,105,943...82,108,581
Ensembl chr15:82,105,944...82,108,570
JBrowse link
G Tnfsf12 tumor necrosis factor (ligand) superfamily, member 12 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chr11:69,577,066...69,586,924
Ensembl chr11:69,577,076...69,586,675
JBrowse link
G Tnfsf13 tumor necrosis factor (ligand) superfamily, member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,573,403...69,576,380
Ensembl chr11:69,573,672...69,576,610
JBrowse link
G Tnfsfm13 tumor necrosis factor (ligand) superfamily, membrane-bound member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chr11:69,573,403...69,586,924
Ensembl chr11:69,573,403...69,586,924
JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,741,389...69,749,556
Ensembl chr11:69,741,831...69,749,556
JBrowse link
G Trappc1 trafficking protein particle complex 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,214,812...69,216,619
Ensembl chr11:69,214,806...69,216,619
JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link
G Ttc7 tetratricopeptide repeat domain 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:87,590,245...87,689,198
Ensembl chr17:87,590,314...87,689,197
JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:68,979,354...68,983,207
Ensembl chr11:68,979,316...68,983,210
JBrowse link
G Wrap53 WD repeat containing, antisense to Trp53 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,452,580...69,471,076
Ensembl chr11:69,452,584...69,471,081
JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:72,192,229...72,204,560
Ensembl chr11:72,192,455...72,204,559
JBrowse link
G Ybx2 Y box protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,826,711...69,832,429
Ensembl chr11:69,826,622...69,832,431
JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr11:69,656,738...69,674,852
Ensembl chr11:69,656,738...69,674,849
JBrowse link
Common Variable Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12577056 PMID:19380800 PMID:28492532 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
JBrowse link
G Icos inducible T cell co-stimulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 OMIM
ClinVar
PMID:9536098 PMID:11343122 PMID:12577056 PMID:15507387 PMID:17576681 More... NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479
JBrowse link
G Nfkb2 nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:24140114 NCBI chr19:46,285,478...46,300,839
Ensembl chr19:46,292,759...46,300,824
JBrowse link
G Tnfrsf13b tumor necrosis factor 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 chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198
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 of kappa light polypeptide gene enhancer in B cells 2, p49/p100 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 OMIM
ClinVar
PMID:9536098 PMID:16303288 PMID:17576681 PMID:22013103 PMID:24033266 More... NCBI chr19:46,285,478...46,300,839
Ensembl chr19:46,292,759...46,300,824
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 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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 of kappa light polypeptide gene enhancer in B cells 1, p105 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 3:135,290,416...135,397,728
Ensembl chr 3:135,290,416...135,397,308
JBrowse link
G Nfkbid nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, delta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 ClinVar NCBI chr 7:30,121,156...30,128,173
Ensembl chr 7:30,121,157...30,128,171
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 chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926
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 chr 8:127,315,035...127,320,725
Ensembl chr 8:127,315,035...127,320,725
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 family 3, subfamily A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,114,243...61,158,354
Ensembl chr11:61,114,243...61,158,290
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 chr11:60,428,509...60,449,338
Ensembl chr11:60,427,207...60,449,338
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 chr11:60,291,450...60,311,306
Ensembl chr11:60,291,452...60,309,283
JBrowse link
G B9d1 B9 protein domain 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757
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 chr11:59,708,621...59,739,071
Ensembl chr11:59,708,621...59,730,664
JBrowse link
G Cr2 complement receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 NCBI chr 1:194,819,120...194,859,096
Ensembl chr 1:194,819,119...194,859,024
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 chr11:60,243,063...60,285,168
Ensembl chr11:60,244,155...60,285,167
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 chr11:60,345,414...60,359,580
Ensembl chr11:60,345,417...60,359,580
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 chr11:61,406,709...61,470,560
Ensembl chr11:61,408,075...61,470,513
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 chr11:61,574,908...61,600,776
Ensembl chr11:61,574,917...61,600,777
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 chr11:59,682,234...59,706,138
Ensembl chr11:59,682,234...59,700,842
JBrowse link
G Flii flightless I actin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,604,969...60,618,089
Ensembl chr11:60,604,949...60,618,089
JBrowse link
G Gid4 GID complex subunit 4, VID24 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,307,971...60,336,103
Ensembl chr11:60,307,971...60,341,753
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 chr11:61,544,081...61,563,610
Ensembl chr11:61,544,091...61,563,610
JBrowse link
G Llgl1 LLGL1 scribble cell polarity complex component ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,590,501...60,605,012
Ensembl chr11:60,590,549...60,605,012
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 chr11:61,379,638...61,385,101
Ensembl chr11:61,379,638...61,385,232
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 chr11:59,839,040...59,854,132
Ensembl chr11:59,839,032...59,853,031
JBrowse link
G Mfap4 microfibrillar-associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,376,257...61,379,536
Ensembl chr11:61,376,257...61,379,726
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 chr11:60,619,224...60,623,777
Ensembl chr11:60,619,224...60,623,777
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 chr11:59,552,973...59,671,688
Ensembl chr11:59,552,131...59,671,686
JBrowse link
G Myo15 myosin XV ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195
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 chr11:59,738,692...59,767,359
Ensembl chr11:59,730,273...59,771,794
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 chr11:59,861,440...59,937,394
Ensembl chr11:59,861,440...59,937,315
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 chr11:59,674,719...59,678,483
Ensembl chr11:59,674,723...59,678,471
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 chr11:61,620,476...61,652,924
Ensembl chr11:61,620,476...61,652,914
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 chr11:59,995,743...60,090,023
Ensembl chr11:59,995,839...60,090,023
JBrowse link
G Rasd1 RAS, dexamethasone-induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:59,854,007...59,855,770
Ensembl chr11:59,854,007...59,855,770
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 chr11:61,339,243...61,345,014
Ensembl chr11:61,339,268...61,344,957
JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 (soluble) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,678,933...60,702,091
Ensembl chr11:60,678,930...60,702,544
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 chr11:61,234,226...61,269,668
Ensembl chr11:61,234,227...61,269,171
JBrowse link
G Slc5a10 solute carrier family 5 (sodium/glucose cotransporter), member 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:61,563,608...61,611,641
Ensembl chr11:61,563,607...61,611,652
JBrowse link
G Smcr8 Smith-Magenis syndrome chromosome region, candidate 8 homolog (human) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,668,351...60,679,113
Ensembl chr11:60,668,350...60,679,113
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 chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407
JBrowse link
G Tnfrsf13b tumor necrosis factor 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 chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198
JBrowse link
G Tnfrsf13c tumor necrosis factor receptor superfamily, member 13c ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:82,105,943...82,108,581
Ensembl chr15:82,105,944...82,108,570
JBrowse link
G Tom1l2 target of myb1-like 2 (chicken) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,114,622...60,243,766
Ensembl chr11:60,117,540...60,243,731
JBrowse link
G Top3a topoisomerase (DNA) III alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:60,629,035...60,668,191
Ensembl chr11:60,630,884...60,668,191
JBrowse link
G Tvp23b trans-golgi network vesicle protein 23B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr11:62,770,281...62,786,012
Ensembl chr11:62,770,281...62,807,606
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 antigen 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 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061
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 chr15:83,110,923...83,135,930
Ensembl chr15:83,110,923...83,135,975
JBrowse link
G Aco2 aconitase 2, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,756,664...81,799,338
Ensembl chr15:81,756,510...81,799,334
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 chr15:82,012,101...82,026,404
Ensembl chr15:82,012,123...82,026,404
JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,115,694...82,128,974
Ensembl chr15:82,117,980...82,128,949
JBrowse link
G Chadl chondroadherin-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,570,366...81,581,564
Ensembl chr15:81,562,497...81,581,488
JBrowse link
G Csdc2 cold shock domain containing C2, RNA binding ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,820,960...81,835,142
Ensembl chr15:81,820,960...81,835,142
JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:83,037,696...83,060,641
Ensembl chr15:83,037,695...83,056,793
JBrowse link
G Cyp2d22 cytochrome P450, family 2, subfamily d, polypeptide 22 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461
JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,876,724...81,900,424
Ensembl chr15:81,876,724...81,918,063
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,470,329...81,536,278
Ensembl chr15:81,469,552...81,536,278
JBrowse link
G L3mbtl2 L3MBTL2 polycomb repressive complex 1 subunit ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,548,090...81,572,516
Ensembl chr15:81,548,090...81,572,516
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 chr15:81,954,275...82,011,018
Ensembl chr15:81,954,197...82,011,015
JBrowse link
G Mir33 microRNA 33 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,082,323...82,082,391
Ensembl chr15:82,082,323...82,082,391
JBrowse link
G Naga N-acetyl galactosaminidase, alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,213,733...82,223,076
Ensembl chr15:82,213,733...82,223,126
JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,234,340...82,238,492
Ensembl chr15:82,234,341...82,238,523
JBrowse link
G Nfam1 Nfat activating molecule with ITAM motif 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,880,937...82,917,598
Ensembl chr15:82,877,174...82,917,507
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 chr15:82,223,148...82,229,911
Ensembl chr15:82,223,143...82,229,944
JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,748,717...81,756,093
Ensembl chr15:81,748,721...81,756,112
JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,835,307...81,845,131
Ensembl chr15:81,835,309...81,845,131
JBrowse link
G Poldip3 polymerase (DNA-directed), delta interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:83,010,169...83,033,579
Ensembl chr15:83,010,177...83,033,585
JBrowse link
G Polr3h polymerase (RNA) III (DNA directed) polypeptide H ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,799,231...81,813,824
Ensembl chr15:81,772,429...81,810,441
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 chr15:81,588,449...81,614,120
Ensembl chr15:81,588,449...81,629,731
JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,350,517...81,360,570
Ensembl chr15:81,350,497...81,360,570
JBrowse link
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:83,000,047...83,007,002
Ensembl chr15:82,997,634...83,007,002
JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,153,003...82,178,775
Ensembl chr15:82,153,003...82,178,775
JBrowse link
G Serhl serine hydrolase-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,984,394...83,000,876
Ensembl chr15:82,973,707...83,000,875
JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,090,369...82,097,049
Ensembl chr15:82,090,369...82,097,016
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 chr15:82,229,901...82,233,266
Ensembl chr15:82,223,160...82,233,292
JBrowse link
G Smim45 small integral membrane protein 45 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,136,673...82,144,947
Ensembl chr15:82,136,598...82,144,954
JBrowse link
G Snu13 SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,925,546...81,931,799
Ensembl chr15:81,924,726...81,931,799
JBrowse link
G Srebf2 sterol regulatory element binding factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,031,470...82,089,580
Ensembl chr15:82,031,382...82,089,580
JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,692,648...82,872,304
Ensembl chr15:82,692,637...82,872,073
JBrowse link
G Tef thyrotroph embryonic factor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,686,874...81,711,064
Ensembl chr15:81,686,622...81,711,064
JBrowse link
G Tnfrsf13c tumor necrosis factor 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 chr15:82,105,943...82,108,581
Ensembl chr15:82,105,944...82,108,570
JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,732,471...81,744,742
Ensembl chr15:81,732,473...81,742,997
JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,183,126...82,198,848
Ensembl chr15:82,183,155...82,198,824
JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,284,282...81,341,683
Ensembl chr15:81,284,339...81,341,683
JBrowse link
G Xrcc6 X-ray repair complementing defective repair in Chinese hamster cells 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,868,805...81,924,286
Ensembl chr15:81,872,036...81,924,286
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 chr15:81,629,299...81,680,470
Ensembl chr15:81,629,258...81,680,461
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, subfamily A, member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr19:11,227,043...11,243,513
Ensembl chr19:11,227,039...11,243,605
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 antigen ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 6 OMIM
ClinVar
PMID:20237408 PMID:25741868 PMID:28492532 NCBI chr 7:142,606,487...142,621,667
Ensembl chr 7:142,606,476...142,621,671
JBrowse link
Common Variable Immunodeficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AA986860 expressed sequence AA986860 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,659,713...130,672,359
Ensembl chr 1:130,659,713...130,672,359
JBrowse link
G Cd34 CD34 antigen ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,621,129...194,643,600
Ensembl chr 1:194,621,127...194,643,587
JBrowse link
G Cd46 CD46 antigen, complement regulatory protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557
JBrowse link
G Cd55 CD55 molecule, decay accelerating factor for complement ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,357,526...130,392,746
Ensembl chr 1:130,366,764...130,390,481
JBrowse link
G Cr1l complement component (3b/4b) receptor 1-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,781,019...194,813,878
Ensembl chr 1:194,779,690...194,813,894
JBrowse link
G Cr2 complement receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24033266 More... NCBI chr 1:194,819,120...194,859,096
Ensembl chr 1:194,819,119...194,859,024
JBrowse link
G Fcamr Fc receptor, IgA, IgM, high affinity ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,712,444...130,753,641
Ensembl chr 1:130,728,639...130,742,477
JBrowse link
G Fcmr Fc fragment of IgM receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,793,514...130,808,527
Ensembl chr 1:130,793,406...130,808,528
JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852
JBrowse link
G Il20 interleukin 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,834,722...130,839,033
Ensembl chr 1:130,834,722...130,839,188
JBrowse link
G Il24 interleukin 24 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,809,811...130,815,148
Ensembl chr 1:130,809,811...130,815,191
JBrowse link
G Mir29c microRNA 29c ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,719,855...194,719,942
Ensembl chr 1:194,719,855...194,719,942
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 1:130,616,780...130,656,990
Ensembl chr 1:130,616,919...130,656,990
Ensembl chr 1:130,616,919...130,656,990
JBrowse link
G Pigr polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,754,421...130,779,986
Ensembl chr 1:130,754,421...130,779,986
JBrowse link
G Plxna2 plexin A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,302,020...194,499,177
Ensembl chr 1:194,300,526...194,499,177
JBrowse link
G Yod1 YOD1 deubiquitinase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,645,064...130,649,810
Ensembl chr 1:130,645,064...130,652,095
JBrowse link
G Zp3r zona pellucida 3 receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,474,847...130,557,371
Ensembl chr 1:130,504,450...130,557,358
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 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 3:86,130,763...86,690,001
Ensembl chr 3:86,131,987...86,689,999
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 3:86,453,357...86,455,590
Ensembl chr 3:86,452,888...86,455,936
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 9:44,290,787...44,303,666
Ensembl chr 9:44,290,787...44,303,666
JBrowse link
immunodeficiency 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3kbp1 SH3-domain kinase binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 61 OMIM
ClinVar
PMID:29636373 NCBI chr  X:158,409,888...158,758,916
Ensembl chr  X:158,410,268...158,761,065
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 agammaglobulinemia 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:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319
JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:11956200 PMID:21984432 PMID:22736418 PMID:28492532 NCBI chr  X:133,438,005...133,442,419
Ensembl chr  X:133,438,005...133,442,614
JBrowse link
X-linked agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton agammaglobulinemia tyrosine kinase ameliorates ISO
IEA
ClinVar Annotator: match by term: X-linked agammaglobulinemia
Human gene in mouse model
human gene in a mouse model
OMIM:300310 | OMIM:300755
DNA:mutations:exon, intron:multiple
OMIM
ClinVar
MouseDO
RGD
PMID:2896233 PMID:4697357 PMID:7554467 PMID:7633429 PMID:7678697 More... RGD:124715475, RGD:124713551, RGD:11040698, RGD:11040588 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 IEA OMIM:300310 | OMIM:300755 MouseDO NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
JBrowse link
X-Linked Hypogammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton agammaglobulinemia tyrosine kinase ISO ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked ClinVar PMID:8758136 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15169
    syndrome 8945
      primary immunodeficiency disease 3423
        lymphoproliferative syndrome 868
          agammaglobulinemia 234
            Achondroplasia and Swiss Type Agammaglobulinemia 0
            Agammaglobulinemia 1, Autosomal Recessive 3
            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 + 3
            adenosine deaminase deficiency 5
            agammaglobulinemia 4 7
            agammaglobulinemia 5 1
            autosomal recessive osteopetrosis 7 1
            common variable immunodeficiency + 193
            immunodeficiency 59 1
            isolated growth hormone deficiency type III 2
            transient hypogammaglobulinemia + 0
Path 2
Term Annotations click to browse term
  disease 15169
    disease of anatomical entity 14826
      Immune & Inflammatory Diseases 4648
        immune system disease 4060
          Immunoproliferative Disorders 878
            lymphoproliferative syndrome 868
              agammaglobulinemia 234
                Achondroplasia and Swiss Type Agammaglobulinemia 0
                Agammaglobulinemia 1, Autosomal Recessive 3
                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 + 3
                adenosine deaminase deficiency 5
                agammaglobulinemia 4 7
                agammaglobulinemia 5 1
                autosomal recessive osteopetrosis 7 1
                common variable immunodeficiency + 193
                immunodeficiency 59 1
                isolated growth hormone deficiency type III 2
                transient hypogammaglobulinemia + 0
paths to the root