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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:B cell deficiency
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Accession:DOID:2115 term browser browse the term
Definition:A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. (DO)
Synonyms:exact_synonym: B cell (antibody) deficiencies;   immunoglobulin heavy chain deficiency;   immunoglobulin heavy chain deletion
 xref: ICD9CM:279.03
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
B cell deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighm immunoglobulin heavy constant epsilon IMP RGD PMID:21038471 RGD:150523760 Ensembl chr 6:132,329,269...133,053,426 JBrowse link
G Ighmem1Ang immunoglobulin heavy constant mu; ZFN induced mutant1, Ang IMP RGD PMID:21038471 RGD:150523760
G Ighmem2Ang immunoglobulin heavy constant mu; ZFN induced mutant2, Ang IMP RGD PMID:21038471 RGD:150523760
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency OMIM
ClinVar		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:14722525 PMID:16199547 PMID:18060736 PMID:19776401 PMID:24033266 More... NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 More... NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:8810255 PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blnk B-cell linker susceptibility ISO DNA:splice-site mutation
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10583958 RGD:1600518 NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113 		JBrowse link
G Btk Bruton tyrosine kinase susceptibility ISO DNA:insertions, point mutations
ClinVar Annotator: match by term: Agammaglobulinemia
CTD Direct Evidence: therapeutic		 ClinVar
CTD
RGD		 PMID:10352268 PMID:15142874 PMID:8162018 RGD:1600526 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975 		JBrowse link
G Cd79a CD79a molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935 		JBrowse link
G Cd79b CD79b molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14660746 RGD:1599837 NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
agammaglobulinemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 More... NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935 		JBrowse link
agammaglobulinemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spi1 Spi-1 proto-oncogene ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:33951726 NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393 		JBrowse link
agammaglobulinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora2a adenosine A2a receptor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386 		JBrowse link
G Cabin1 calcineurin binding protein 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,893,314...13,015,357
Ensembl chr20:12,893,358...13,015,357 		JBrowse link
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763 		JBrowse link
G Ddt D-dopachrome tautomerase ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,884,216...12,886,687
Ensembl chr20:12,884,243...12,888,482 		JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027 		JBrowse link
G Ggt5 gamma-glutamyltransferase 5 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:13,043,255...13,071,523
Ensembl chr20:13,043,257...13,071,450 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Gstt2 glutathione S-transferase theta 2 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,819,617...12,823,288
Ensembl chr20:12,819,170...12,823,288 		JBrowse link
G Mif macrophage migration inhibitory factor ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628 		JBrowse link
G RGD1564162 similar to Homo sapiens fetal lung specific expression unknown ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,721,738...12,725,864
Ensembl chr20:12,723,160...12,726,059 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665 		JBrowse link
G Susd2 sushi domain containing 2 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:13,017,468...13,024,903
Ensembl chr20:13,017,477...13,024,903 		JBrowse link
G Upb1 beta-ureidopropionase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590 		JBrowse link
G Vpreb3 V-set pre-B cell surrogate light chain 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr20:12,717,475...12,718,785
Ensembl chr20:12,716,779...12,719,520 		JBrowse link
agammaglobulinemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar		 PMID:10525050 PMID:11920841 PMID:24481606 PMID:24728327 PMID:25741868 More... NCBI chr 1:80,493,520...80,497,936
Ensembl chr 1:80,493,581...80,497,935 		JBrowse link
agammaglobulinemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
G Blnk B-cell linker ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113 		JBrowse link
G Cc2d2b coiled-coil and C2 domain containing 2B ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:239,561,506...239,655,771
Ensembl chr 1:239,561,987...239,682,416 		JBrowse link
G Ccnj cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:239,659,588...239,677,367 JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:239,414,004...239,425,319
Ensembl chr 1:239,415,203...239,425,272 		JBrowse link
G Zfp518a zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:28492532 NCBI chr 1:239,719,305...239,744,978
Ensembl chr 1:239,719,505...239,744,979 		JBrowse link
agammaglobulinemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202 		JBrowse link
agammaglobulinemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79b molecule ISO ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More... NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625 		JBrowse link
agammaglobulinemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive OMIM
ClinVar		 PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25741868 More... NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
agammaglobulinemia 8A 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 8, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 More... NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
agammaglobulinemia 8B 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
OMIM		 PMID:28532655 PMID:30063982 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
agammaglobulinemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive OMIM
ClinVar		 PMID:28492532 PMID:30718914 NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537 		JBrowse link
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcd protein kinase C, delta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III OMIM
ClinVar		 PMID:9536098 PMID:11976687 PMID:17576681 PMID:23319571 PMID:23430113 More... NCBI chr16:5,769,226...5,807,214
Ensembl chr16:5,769,215...5,799,352 		JBrowse link
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III ClinVar PMID:11976687 PMID:23319571 PMID:23430113 PMID:28492532 NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120 		JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 OMIM
ClinVar		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top2b DNA topoisomerase II beta ISO ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations OMIM
ClinVar		 PMID:11152140 PMID:11476068 PMID:15521984 PMID:21204224 PMID:22002929 More... NCBI chr15:9,051,661...9,111,220
Ensembl chr15:9,051,341...9,112,085 		JBrowse link
CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Cd40lg CD40 ligand disease_progression ISO ClinVar Annotator: match by term: Hyper IgM immunodeficiency, X-linked | ClinVar Annotator: match by term: IMMUNODEFICIENCY 3 | ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)		 ClinVar
RGD
CTD
OMIM		 PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,430,588...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542 		JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938 		JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328 		JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933 		JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837 		JBrowse link
G Bcl6b BCL6B, transcription repressor ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632 		JBrowse link
G Cd19 CD19 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd68 Cd68 molecule ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697 		JBrowse link
G Cd81 Cd81 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047 		JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171 		JBrowse link
G Clec10a C-type lectin domain containing 10A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435 		JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849 		JBrowse link
G Cr2 complement C3d receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781 		JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human) RGD PMID:26476407 RGD:11251730 NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153 		JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820 		JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471 		JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,384,345...54,389,853
Ensembl chr10:54,384,347...54,389,858 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656 		JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923 		JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906 		JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO protein:decreased expression:blood, monocyte RGD PMID:17900300 RGD:5147988 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967 		JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062 		JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,350,577...54,370,964
Ensembl chr10:54,350,131...54,370,964 		JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,714,834...54,717,769
Ensembl chr10:54,714,198...54,717,765 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,824,124...53,828,350
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
G Icos inducible T-cell co-stimulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416 		JBrowse link
G Il21 interleukin 21 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IL21 DEFICIENCY		 CTD
ClinVar		 PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
G Il21r interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522 		JBrowse link
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174 		JBrowse link
G Kctd11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760 		JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794 		JBrowse link
G Manba mannosidase beta ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 NCBI chr 2:223,910,432...224,002,988
Ensembl chr 2:223,910,432...224,002,983 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) RGD PMID:10652157 RGD:4889436 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mir195 microRNA 195 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924 		JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447 		JBrowse link
G Ms4a1 membrane spanning 4-domains A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512 		JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable agammaglobulinemia		 CTD
ClinVar		 PMID:25741868 PMID:29477724 PMID:32278790 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable agammaglobulinemia		 CTD
ClinVar		 PMID:24140114 PMID:25524009 PMID:25741868 PMID:28492532 PMID:28778864 More... NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213 		JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,544,588...54,557,854
Ensembl chr10:54,544,588...54,558,434 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,718,608...54,722,784
Ensembl chr10:54,717,724...54,722,782 		JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709 		JBrowse link
G Polr2a RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455 		JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 More... NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
G RGD1308134 similar to RIKEN cDNA 1110020A23 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601 		JBrowse link
G Rnasek ribonuclease K ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,954,904...54,956,622
Ensembl chr10:54,951,991...54,956,601 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphisms (human) RGD PMID:10361244 RGD:5147864 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G Sat2 spermidine/spermine N1-acetyltransferase family member 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,340,756...54,343,507
Ensembl chr10:54,340,372...54,343,224 		JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593 		JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057 		JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945 		JBrowse link
G Slc16a11 solute carrier family 16, member 11 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915 		JBrowse link
G Slc16a13 solute carrier family 16, member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565 		JBrowse link
G Slc35g3 solute carrier family 35, member G3 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,478,796...54,481,543
Ensembl chr10:54,479,770...54,481,748 		JBrowse link
G Sox15 SRY-box transcription factor 15 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,373,602...54,376,591
Ensembl chr10:54,372,403...54,376,591 		JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131 		JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058 		JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572 		JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,523,901...54,525,999
Ensembl chr10:54,523,585...54,525,990 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120 		JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447 		JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency		 CTD
ClinVar		 PMID:8072530 PMID:15077010 PMID:16007086 PMID:16007087 PMID:16299065 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive		 CTD
ClinVar		 PMID:28492532 NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517 		JBrowse link
G Tnfsf12 TNF superfamily member 12 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213 		JBrowse link
G Tnfsf13 TNF superfamily member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042 		JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331 		JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:25741868 PMID:28492532 PMID:32499645 NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892 		JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809 		JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:56,917,284...56,929,791
Ensembl chr10:56,917,121...56,929,770 		JBrowse link
G Ybx2 Y box binding protein 2 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371 		JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:28492532 NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492 		JBrowse link
common variable immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12577056 PMID:19380800 PMID:28492532 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Icos inducible T-cell co-stimulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 OMIM
ClinVar		 PMID:9536098 PMID:11343122 PMID:12577056 PMID:15507387 PMID:16199547 More... NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:24140114 NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
common variable immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb2 nuclear factor kappa B subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 OMIM
ClinVar		 PMID:9536098 PMID:16303288 PMID:17576681 PMID:22013103 PMID:24033266 More... NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213 		JBrowse link
common variable immunodeficiency 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21 interleukin 21 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 11 OMIM
ClinVar		 PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
common variable immunodeficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 OMIM
ClinVar		 PMID:9383370 PMID:11583829 PMID:16639407 PMID:25741868 PMID:26279205 More... NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G Nfkbid NFKB inhibitor delta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 ClinVar NCBI chr 1:85,679,353...85,690,415
Ensembl chr 1:85,680,861...85,690,447 		JBrowse link
common variable immunodeficiency 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 OMIM
ClinVar		 PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:28927821 More... NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416 		JBrowse link
common variable immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf2bp2 interferon regulatory factor 2 binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27016798 PMID:28492532 NCBI chr19:54,559,409...54,564,714
Ensembl chr19:54,560,128...54,566,642 		JBrowse link
common variable immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331 		JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026 		JBrowse link
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008 		JBrowse link
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975 		JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597 		JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235 		JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369 		JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,255,501...45,269,971
Ensembl chr10:45,255,507...45,269,969 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642 		JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019 		JBrowse link
G Fbxw10 F-box and WD repeat domain containing 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769 		JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970 		JBrowse link
G Gid4 GID complex subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,221,210...45,247,627
Ensembl chr10:45,245,754...45,247,621
Ensembl chr10:45,245,754...45,247,621 		JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056 		JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464 		JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:44,453,929...44,569,442
Ensembl chr10:44,453,929...44,569,118 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013 		JBrowse link
G Pld6 phospholipase D family, member 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:44,577,740...44,581,686
Ensembl chr10:44,577,675...44,581,077 		JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232 		JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,468,698...45,497,820
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637 		JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:46,352,064...46,400,795
Ensembl chr10:46,352,061...46,399,811 		JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 OMIM
ClinVar		 PMID:8072530 PMID:9536098 PMID:15077010 PMID:16007086 PMID:16007087 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517 		JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559 		JBrowse link
G Tvp23b trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203 		JBrowse link
common variable immunodeficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd19 CD19 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 3 OMIM
ClinVar		 PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 More... NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975 		JBrowse link
common variable immunodeficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase (P blood group) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071 		JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,644,557...113,659,050
Ensembl chr 7:113,644,639...113,659,050 		JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,748,026...113,759,296
Ensembl chr 7:113,747,516...113,764,258 		JBrowse link
G Chadl chondroadherin-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272 		JBrowse link
G Csdc2 cold shock domain containing C2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,451,998...113,466,464
Ensembl chr 7:113,451,998...113,466,463 		JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,306,686...114,324,247
Ensembl chr 7:114,306,685...114,324,298 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,519,974...113,542,834
Ensembl chr 7:113,519,980...113,542,845 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489 		JBrowse link
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511 		JBrowse link
G Mir33 microRNA 33 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,713,855...113,713,923
Ensembl chr 7:113,713,855...113,713,923 		JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315 		JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239 		JBrowse link
G Nfam1 NFAT activating protein with ITAM motif 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,139,318...114,175,395
Ensembl chr 7:114,139,345...114,175,442 		JBrowse link
G Pheta2 PH domain containing endocytic trafficking adaptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,855,437...113,861,910
Ensembl chr 7:113,857,249...113,861,871 		JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,378,469...113,385,035
Ensembl chr 7:113,378,471...113,385,460 		JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,466,632...113,477,004
Ensembl chr 7:113,466,632...113,477,022 		JBrowse link
G Poldip3 DNA polymerase delta interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,274,845...114,303,278
Ensembl chr 7:114,275,085...114,303,271 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778 		JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051 		JBrowse link
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,262,929...114,272,817
Ensembl chr 7:114,256,472...114,272,817 		JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,783,217...113,811,089
Ensembl chr 7:113,783,095...113,811,087 		JBrowse link
G Serhl2 serine hydrolase-like 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:114,246,056...114,272,781
Ensembl chr 7:114,246,056...114,272,781 		JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,722,408...113,727,858
Ensembl chr 7:113,722,408...113,727,858 		JBrowse link
G Smdt1 single-pass membrane protein with aspartate-rich tail 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,861,997...113,865,245
Ensembl chr 7:113,860,611...113,865,226 		JBrowse link
G Smim45 small integral membrane protein 45 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,765,468...113,773,339
Ensembl chr 7:113,765,468...113,773,339 		JBrowse link
G Snu13 small nuclear ribonucleoprotein 13 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,565,903...113,570,871
Ensembl chr 7:113,565,295...113,570,872 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848 		JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839 		JBrowse link
G Tef TEF transcription factor, PAR bZIP family member ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,317,191...113,341,783
Ensembl chr 7:113,317,283...113,341,783 		JBrowse link
G Tnfrsf13c TNF receptor superfamily member 13C ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 OMIM
ClinVar		 PMID:19666484 PMID:21041452 PMID:25741868 PMID:28492532 NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517 		JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,362,703...113,371,423
Ensembl chr 7:113,361,148...113,372,688 		JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,814,793...113,831,974
Ensembl chr 7:113,814,992...113,831,333 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr 7:112,926,154...112,978,793
Ensembl chr 7:112,926,248...112,974,878 		JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762 		JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr 7:113,262,142...113,310,399
Ensembl chr 7:113,262,165...113,310,399 		JBrowse link
common variable immunodeficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ms4a1 membrane spanning 4-domains A1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512 		JBrowse link
common variable immunodeficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd81 Cd81 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 6 OMIM
ClinVar		 PMID:20237408 PMID:25741868 PMID:28492532 NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660 		JBrowse link
common variable immunodeficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C13h1orf116 similar to human chromosome 1 open reading frame 116 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,187,442...42,201,432
Ensembl chr13:42,188,609...42,201,426 		JBrowse link
G C4bpa complement component 4 binding protein, alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,075,715...42,111,205
Ensembl chr13:42,075,717...42,111,205 		JBrowse link
G C4bpb complement component 4 binding protein, beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,120,798...42,131,515
Ensembl chr13:42,120,798...42,131,817 		JBrowse link
G Cd34 CD34 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:106,480,074...106,499,462
Ensembl chr13:106,480,043...106,499,832 		JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831 		JBrowse link
G Cr1l complement C3b/C4b receptor 1 like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:106,606,952...106,660,442
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cr2 complement C3d receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24033266 More... NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235 		JBrowse link
G Fcamr Fc alpha and mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,273,891...42,288,002
Ensembl chr13:42,273,628...42,287,113 		JBrowse link
G Fcmr Fc mu receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,337,363...42,351,706
Ensembl chr13:42,337,414...42,351,653 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473 		JBrowse link
G Il20 interleukin 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625 		JBrowse link
G Il24 interleukin 24 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,353,089...42,358,487
Ensembl chr13:42,353,090...42,358,487 		JBrowse link
G Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,147,473...42,174,699
Ensembl chr13:42,147,478...42,174,699 		JBrowse link
G Pigr polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,298,905...42,326,877
Ensembl chr13:42,298,914...42,326,875 		JBrowse link
G Plxna2 plexin A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:106,163,103...106,358,979
Ensembl chr13:106,163,103...106,358,979 		JBrowse link
G Yod1 YOD1 deubiquitinase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr13:42,175,313...42,177,030
Ensembl chr13:42,174,820...42,177,205 		JBrowse link
common variable immunodeficiency 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608502 PMID:22721650 More... NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724 		JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:26206937 PMID:26768763 PMID:28492532 NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655 		JBrowse link
dysgammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand ISO Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230 RGD PMID:7678782 RGD:1599480 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Igkc immunoglobulin kappa constant ISO CTD Direct Evidence: marker/mechanism CTD PMID:3931219
G Ung uracil-DNA glycosylase ISO Hyper-IgM syndrome 5, OMIM:608106 RGD PMID:12958596 RGD:1599705 NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
DNA:mutation:splicing site:		 OMIM
ClinVar
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4r interleukin 4 receptor no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 ClinVar PMID:25741868 PMID:32207811 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 ClinVar
OMIM
RGD		 PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 More... RGD:6892956 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
hyper IgE recurrent infection syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1h9orf66 similar to human chromosome 9 open reading frame 66 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:9536098 PMID:14722525 PMID:16199547 PMID:17576681 PMID:19776401 More...
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
DNA:mutation:cds:		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... RGD:40907054 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:14722525 PMID:19776401 PMID:20622910 PMID:27398204 PMID:28492532 More... NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514 		JBrowse link
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:33290277 NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629 		JBrowse link
hyper IgE recurrent infection syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp341 zinc finger protein 341 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691 NCBI chr 3:143,122,699...143,156,250
Ensembl chr 3:143,119,093...143,156,249 		JBrowse link
hyper IgE recurrent infection syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28747427 PMID:30309848 PMID:32207811 More... NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
hyper IgE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1h9orf66 similar to human chromosome 9 open reading frame 66 ISO ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:9536098 PMID:14722525 PMID:16199547 PMID:17576681 PMID:19776401 More...
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome | ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive		 CTD
ClinVar		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:14722525 PMID:19776401 PMID:20622910 PMID:27398204 PMID:28492532 More... NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 8:87,517,931...87,536,034
Ensembl chr 8:87,517,701...87,536,022 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome		 CTD
ClinVar		 PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 More... NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:33290277 NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629 		JBrowse link
hyper IgM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM ClinVar PMID:9746782 PMID:15358621 PMID:17351759 PMID:19575287 PMID:20301576 More... NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Ung uracil-DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206 		JBrowse link
Hyper-IgE Recurrent Infection Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive OMIM
ClinVar		 PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
hyperimmunoglobulin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase susceptibility
onset		 ISO DNA:splice-site mutation:intron:IVS2+1G>T (human)
DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human)
DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)		 RGD PMID:11007475 PMID:15372234 PMID:11112359 PMID:17553565 RGD:1598906, RGD:11039485, RGD:11039483, RGD:11039457 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Cd40 CD40 molecule ISO DNA:mutations:exons (human) RGD PMID:11675497 RGD:1599479 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oas1a 2'-5' oligoadenylate synthetase 1A ISO ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia OMIM
ClinVar		 PMID:25741868 PMID:29185156 PMID:29455859 PMID:34145065 NCBI chr12:35,669,798...35,680,505
Ensembl chr12:35,669,801...35,680,517 		JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyk2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17088085 PMID:17576681 PMID:21680795 More... NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044 		JBrowse link
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality OMIM
ClinVar		 PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
immunodeficiency 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 61 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29636373 NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747 		JBrowse link
immunodeficiency 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 62 OMIM
ClinVar		 PMID:30521495 NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953 		JBrowse link
immunodeficiency with hyper IgM type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 OMIM
ClinVar		 PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 More... NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
immunodeficiency with hyper IgM type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acacb acetyl-CoA carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655 		JBrowse link
G Ung uracil-DNA glycosylase ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5 OMIM
ClinVar		 PMID:9536098 PMID:12958596 PMID:15967827 PMID:16199547 PMID:17029639 More... NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206 		JBrowse link
immunodeficiency with hyper-IgM type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 OMIM
ClinVar		 PMID:9536098 PMID:11007475 PMID:12910268 PMID:14564357 PMID:14769937 More... NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 4:156,589,591...156,598,969
Ensembl chr 4:156,589,792...156,598,848 		JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767 		JBrowse link
G Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:25741868 NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363 		JBrowse link
Immunoglobulin A Deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: IgA, selective deficiency of, TACI related | ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 OMIM
ClinVar		 PMID:8072530 PMID:15077010 PMID:16007086 PMID:16007087 PMID:16299065 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
immunoglobulin alpha deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27723758 NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694011 PMID:27723758 NCBI chr10:4,927,804...5,123,749
Ensembl chr10:4,928,030...5,123,578 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNPs,haplotype: :rs231770,rs16840252,rs231775(human) RGD PMID:19020530 RGD:11344917 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Icos inducible T-cell co-stimulator susceptibility ISO DNA:SNPs,haplotype: :rs4521021,rs10172036(human) RGD PMID:19020530 RGD:11344917 NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694011 PMID:27723758 NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456 		JBrowse link
G Pvt1 Pvt1 oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:27723758 NCBI chr 7:93,656,249...93,879,938 JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:22291608 PMID:10931389 RGD:11041755, RGD:11041756 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency OMIM
ClinVar		 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 More... NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:11956200 PMID:21984432 PMID:22736418 PMID:28492532 NCBI chr  X:97,717,932...97,721,918
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
selective IgG deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO mRNA:decreased expression:peripheral blood leukocyte: RGD PMID:9042436 RGD:10755693 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
X-linked agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ameliorates ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia
Human gene in mouse model
human gene in a mouse model
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
RGD		 PMID:2896233 PMID:4697357 PMID:7554467 PMID:7633429 PMID:7678697 More... RGD:124715475, RGD:124713551, RGD:11040698, RGD:11040588 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISS OMIM:300310 | OMIM:300755 MouseDO NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
X-linked hyper IgM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983 		JBrowse link
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1 | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841 		JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,430,588...134,486,747
Ensembl chr  X:134,420,756...134,485,375 		JBrowse link
G Ung uracil-DNA glycosylase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206 		JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746 		JBrowse link
X-Linked Hypogammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked ClinVar PMID:8758136 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      primary immunodeficiency disease 3867
        B cell deficiency 282
          B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 1
          agammaglobulinemia + 237
          congenital hypogammaglobulinemia 0
          hyperimmunoglobulin syndrome + 35
          immunodeficiency 61 1
          immunodeficiency 62 1
          immunoglobulin alpha deficiency + 8
          immunoglobulin beta deficiency 0
          lambda 5 deficiency 0
          selective immunoglobulin deficiency disease + 44
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      Immune & Inflammatory Diseases 5217
        immune system disease 4522
          primary immunodeficiency disease 3867
            B cell deficiency 282
              B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 1
              agammaglobulinemia + 237
              congenital hypogammaglobulinemia 0
              hyperimmunoglobulin syndrome + 35
              immunodeficiency 61 1
              immunodeficiency 62 1
              immunoglobulin alpha deficiency + 8
              immunoglobulin beta deficiency 0
              lambda 5 deficiency 0
              selective immunoglobulin deficiency disease + 44
paths to the root