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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:agammaglobulinemia
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Accession:DOID:2583 term browser browse the term
Definition:A B cell deficiency that is caused by a reduction in all types of gamma globulins. (DO)
Synonyms:exact_synonym: agammaglobulinemias;   hypogammaglobulinemia;   hypogammaglobulinemias;   mu heavy chain deficiency
 narrow_synonym: IGHM
 primary_id: MESH:D000361
 xref: ICD10CM:D80.1;   ICD9CM:279.00;   MIM:PS601495;   NCI:C26931
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blnk B cell linker susceptibility ISO DNA:splice-site mutation
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10583958 RGD:1600518 NCBI chr19:40,917,371...40,982,664
Ensembl chr19:40,917,371...40,982,978 		JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase susceptibility ISO DNA:insertions, point mutations
ClinVar Annotator: match by term: Agammaglobulinemia
CTD Direct Evidence: therapeutic		 ClinVar
CTD
RGD		 PMID:10352268 PMID:15142874 PMID:8162018 RGD:1600526 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		JBrowse link
G Cd19 CD19 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061 		JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622 		JBrowse link
G Cd79b CD79B antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588 		JBrowse link
G Ighm immunoglobulin heavy constant mu ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:113,382,446...113,386,350
Ensembl chr12:113,382,178...113,386,350 		JBrowse link
G Igll1 immunoglobulin lambda-like polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:16,678,535...16,681,849
Ensembl chr16:16,678,535...16,681,849 		JBrowse link
G Lrrc8a leucine rich repeat containing 8A VRAC subunit A ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14660746 RGD:1599837 NCBI chr 2:30,127,781...30,153,802
Ensembl chr 2:30,127,727...30,153,802 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481 		JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acot8 acyl-CoA thioesterase 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,634,688...164,662,132
Ensembl chr 2:164,634,685...164,646,802 		JBrowse link
G Ada adenosine deaminase ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:102700		 OMIM
ClinVar
CTD
MouseDO		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Ccn5 cellular communication network factor 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,662,724...163,675,066
Ensembl chr 2:163,662,781...163,675,066 		JBrowse link
G Cd247 CD247 antigen ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 More... NCBI chr 1:165,607,514...165,698,722
Ensembl chr 1:165,616,250...165,704,846 		JBrowse link
G Cd3g CD3 antigen, gamma polypeptide ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chr 9:44,880,870...44,891,729
Ensembl chr 9:44,880,870...44,891,729 		JBrowse link
G Cd40 CD40 antigen ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cdh22 cadherin 22 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,953,421...165,076,892
Ensembl chr 2:164,953,427...165,076,773 		JBrowse link
G Ctsa cathepsin A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,674,792...164,682,952
Ensembl chr 2:164,674,793...164,682,952 		JBrowse link
G Dbndd2 dysbindin domain containing 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,309,073...164,335,243
Ensembl chr 2:164,328,026...164,335,239 		JBrowse link
G Dnttip1 deoxynucleotidyltransferase, terminal, interacting protein 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,587,935...164,610,140
Ensembl chr 2:164,587,903...164,610,527 		JBrowse link
G Elmo2 engulfment and cell motility 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:165,129,951...165,168,421
Ensembl chr 2:165,129,951...165,168,399 		JBrowse link
G Eppin epididymal peptidase inhibitor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,430,263...164,435,491
Ensembl chr 2:164,430,263...164,435,514 		JBrowse link
G Fitm2 fat storage-inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,310,623...163,314,549
Ensembl chr 2:163,308,299...163,314,549 		JBrowse link
G Gdap1l1 ganglioside-induced differentiation-associated protein 1-like 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,280,387...163,297,264
Ensembl chr 2:163,280,396...163,297,244 		JBrowse link
G Gtsf1l gametocyte specific factor 1-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:162,928,956...162,931,529
Ensembl chr 2:162,928,954...162,929,775 		JBrowse link
G Hnf4a hepatic nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830 		JBrowse link
G Ift52 intraflagellar transport 52 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:162,859,200...162,888,075
Ensembl chr 2:162,859,274...162,888,061 		JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Jph2 junctophilin 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,178,162...163,239,969
Ensembl chr 2:163,178,162...163,239,913 		JBrowse link
G Kcnk15 potassium channel, subfamily K, member 15 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,695,670...163,700,794
Ensembl chr 2:163,695,571...163,701,666 		JBrowse link
G Kcns1 K+ voltage-gated channel, subfamily S, 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,005,539...164,013,865
Ensembl chr 2:164,005,539...164,013,033 		JBrowse link
G LOC107372314 adenosine deaminase intronic regulatory elements ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:1696926 PMID:3366897 PMID:3684597 PMID:7599635 PMID:8031011 More... NCBI chr 2:163,577,759...163,588,199 JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,231,313...164,247,080
Ensembl chr 2:164,231,313...164,247,080 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mybl2 myeloblastosis oncogene-like 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:162,896,246...162,926,608
Ensembl chr 2:162,896,607...162,926,608 		JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
G Ncoa5 nuclear receptor coactivator 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,842,273...164,876,794
Ensembl chr 2:164,842,277...164,876,787 		JBrowse link
G Neurl2 neuralized E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,672,650...164,675,516
Ensembl chr 2:164,672,652...164,675,376 		JBrowse link
G Ocstamp osteoclast stimulatory transmembrane protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:165,237,370...165,242,314
Ensembl chr 2:165,235,680...165,242,325 		JBrowse link
G Oser1 oxidative stress responsive serine rich 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,247,742...163,266,422
Ensembl chr 2:163,247,742...163,266,617 		JBrowse link
G Pabpc1l poly(A) binding protein, cytoplasmic 1-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,866,685...163,892,458
Ensembl chr 2:163,867,370...163,892,458 		JBrowse link
G Pcif1 phosphorylated CTD interacting factor 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,721,288...164,733,360
Ensembl chr 2:164,721,224...164,736,374 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,339,461...164,350,221
Ensembl chr 2:164,339,440...164,350,221 		JBrowse link
G Pkig protein kinase inhibitor, gamma ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,500,306...163,568,078
Ensembl chr 2:163,500,306...163,568,078 		JBrowse link
G Pltp phospholipid transfer protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,681,441...164,699,564
Ensembl chr 2:164,681,438...164,699,631 		JBrowse link
G R3hdml R3H domain containing-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,333,364...163,344,532
Ensembl chr 2:163,334,238...163,344,532 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		 ClinVar PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 PMID:10891452 More... NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846 		JBrowse link
G Rbpjl recombination signal binding protein for immunoglobulin kappa J region-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,244,996...164,257,368
Ensembl chr 2:164,245,061...164,257,368 		JBrowse link
G Rims4 regulating synaptic membrane exocytosis 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,701,676...163,760,893
Ensembl chr 2:163,701,671...163,760,603 		JBrowse link
G Sdc4 syndecan 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,266,167...164,285,512
Ensembl chr 2:164,266,167...164,285,807 		JBrowse link
G Semg1 semenogelin 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,077,849...164,080,261
Ensembl chr 2:164,077,849...164,080,386 		JBrowse link
G Serinc3 serine incorporator 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,466,577...163,487,767
Ensembl chr 2:163,465,192...163,487,051 		JBrowse link
G Slc12a5 solute carrier family 12, member 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,802,766...164,841,651
Ensembl chr 2:164,802,722...164,841,651 		JBrowse link
G Slc13a3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:165,247,215...165,315,117
Ensembl chr 2:165,246,948...165,315,150 		JBrowse link
G Slc2a10 solute carrier family 2 (facilitated glucose transporter), member 10 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:165,345,817...165,361,837
Ensembl chr 2:165,345,707...165,361,837 		JBrowse link
G Slc35c2 solute carrier family 35, member C2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:165,118,442...165,129,808
Ensembl chr 2:165,118,474...165,129,789 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,195,990...164,231,086
Ensembl chr 2:164,195,990...164,231,015 		JBrowse link
G Snx21 sorting nexin family member 21 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,627,535...164,635,730
Ensembl chr 2:164,627,743...164,635,736 		JBrowse link
G Spata25 spermatogenesis associated 25 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,669,302...164,670,454
Ensembl chr 2:164,668,309...164,670,457 		JBrowse link
G Spint3 serine peptidase inhibitor, Kunitz type, 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,411,641...164,415,355
Ensembl chr 2:164,411,615...164,415,379 		JBrowse link
G Spint4 serine protease inhibitor, Kunitz type 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,540,421...164,544,368
Ensembl chr 2:164,540,421...164,544,373 		JBrowse link
G Stk4 serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,916,033...163,997,444
Ensembl chr 2:163,912,242...163,997,444 		JBrowse link
G Sys1 SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,297,736...164,322,141
Ensembl chr 2:164,298,884...164,321,558 		JBrowse link
G Tnnc2 troponin C2, fast ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,619,081...164,621,654
Ensembl chr 2:164,619,081...164,621,887 		JBrowse link
G Tomm34 translocase of outer mitochondrial membrane 34 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,895,458...163,913,168
Ensembl chr 2:163,895,460...163,913,089 		JBrowse link
G Tox2 TOX high mobility group box family member 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,045,047...163,166,092
Ensembl chr 2:163,045,045...163,166,090 		JBrowse link
G Trp53rka transformation related protein 53 regulating kinase A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:165,332,032...165,335,244
Ensembl chr 2:165,332,030...165,335,244 		JBrowse link
G Trp53tg5 transformation related protein 53 target 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,308,303...164,315,787
Ensembl chr 2:164,312,221...164,315,644 		JBrowse link
G Ttpal tocopherol (alpha) transfer protein-like ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,444,206...163,460,933
Ensembl chr 2:163,444,234...163,460,933 		JBrowse link
G Ube2c ubiquitin-conjugating enzyme E2C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,611,849...164,614,822
Ensembl chr 2:164,611,818...164,620,742 		JBrowse link
G Wfdc10 WAP four-disulfide core domain 10 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,497,966...164,499,288
Ensembl chr 2:164,497,966...164,499,288 		JBrowse link
G Wfdc11 WAP four-disulfide core domain 11 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,504,814...164,516,011
Ensembl chr 2:164,504,814...164,516,007 		JBrowse link
G Wfdc12 WAP four-disulfide core domain 12 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,031,151...164,032,528
Ensembl chr 2:164,031,151...164,032,528 		JBrowse link
G Wfdc13 WAP four-disulfide core domain 13 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,527,027...164,529,626
Ensembl chr 2:164,527,027...164,529,626 		JBrowse link
G Wfdc2 WAP four-disulfide core domain 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,404,635...164,410,430
Ensembl chr 2:164,404,333...164,410,430 		JBrowse link
G Wfdc3 WAP four-disulfide core domain 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,573,222...164,587,914
Ensembl chr 2:164,573,100...164,587,851 		JBrowse link
G Wfdc5 WAP four-disulfide core domain 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,018,245...164,024,662
Ensembl chr 2:164,018,247...164,024,662 		JBrowse link
G Wfdc6a WAP four-disulfide core domain 6A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,421,439...164,427,704
Ensembl chr 2:164,421,439...164,427,367 		JBrowse link
G Wfdc8 WAP four-disulfide core domain 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,438,378...164,455,545
Ensembl chr 2:164,438,378...164,455,546 		JBrowse link
G Wfdc9 WAP four-disulfide core domain 9 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,491,547...164,499,263
Ensembl chr 2:164,491,551...164,498,503 		JBrowse link
G Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:163,837,082...163,860,508
Ensembl chr 2:163,836,880...163,860,508 		JBrowse link
G Zfp334 zinc finger protein 334 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:165,216,184...165,230,234
Ensembl chr 2:165,216,184...165,230,179 		JBrowse link
G Zfp335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,733,802...164,756,034
Ensembl chr 2:164,733,802...164,753,677 		JBrowse link
G Zswim1 zinc finger SWIM-type containing 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,664,933...164,668,791
Ensembl chr 2:164,664,606...164,668,791 		JBrowse link
G Zswim3 zinc finger SWIM-type containing 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar PMID:26255240 PMID:26376800 PMID:28492532 NCBI chr 2:164,647,034...164,664,047
Ensembl chr 2:164,647,018...164,664,050 		JBrowse link
agammaglobulinemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton agammaglobulinemia tyrosine kinase ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 More... NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		JBrowse link
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622 		JBrowse link
G Ighm immunoglobulin heavy constant mu ISO ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 OMIM
ClinVar		 PMID:2115996 PMID:8890099 PMID:12370281 PMID:25741868 NCBI chr12:113,382,446...113,386,350
Ensembl chr12:113,382,178...113,386,350 		JBrowse link
agammaglobulinemia 10 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 2:90,912,750...90,946,104
Ensembl chr 2:90,912,735...90,946,101 		JBrowse link
agammaglobulinemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,768,964...75,773,584
Ensembl chr10:75,768,964...75,773,581 		JBrowse link
G Derl3 Der1-like domain family, member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,729,232...75,731,775
Ensembl chr10:75,729,247...75,731,775 		JBrowse link
G Gm867 predicted gene 867 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,773,553...75,776,508
Ensembl chr10:75,773,557...75,776,506 		JBrowse link
G Igll1 immunoglobulin lambda-like polypeptide 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive OMIM
ClinVar		 PMID:9419212 PMID:9536098 PMID:17576681 PMID:25502423 PMID:25741868 More... NCBI chr16:16,678,535...16,681,849
Ensembl chr16:16,678,535...16,681,849 		JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,759,056...75,768,336
Ensembl chr10:75,759,056...75,772,330 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
G Vpreb3 V-set pre-B cell surrogate light chain 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive ClinVar PMID:28492532 NCBI chr10:75,778,859...75,785,491
Ensembl chr10:75,778,891...75,785,491 		JBrowse link
agammaglobulinemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79a CD79A antigen (immunoglobulin-associated alpha) ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 More... NCBI chr 7:24,596,922...24,601,283
Ensembl chr 7:24,596,806...24,601,622 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive ClinVar PMID:28492532 NCBI chr 7:24,584,013...24,589,236
Ensembl chr 7:24,583,796...24,589,231 		JBrowse link
agammaglobulinemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr19:40,538,701...40,576,907
Ensembl chr19:40,538,701...40,576,907 		JBrowse link
G Blnk B cell linker ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr19:40,917,371...40,982,664
Ensembl chr19:40,917,371...40,982,978 		JBrowse link
G Cc2d2b coiled-coil and C2 domain containing 2B ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr19:40,737,197...40,818,227
Ensembl chr19:40,737,197...40,816,187 		JBrowse link
G Ccnj cyclin J ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr19:40,819,345...40,837,016
Ensembl chr19:40,819,723...40,837,016 		JBrowse link
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr19:40,600,810...40,730,046
Ensembl chr19:40,600,810...40,730,046 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:28492532 NCBI chr19:40,584,890...40,600,768
Ensembl chr19:40,584,890...40,600,677 		JBrowse link
G Zfp518a zinc finger protein 518A ISO ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive ClinVar PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:25741868 More... NCBI chr19:40,882,472...40,906,391
Ensembl chr19:40,883,149...40,906,391 		JBrowse link
agammaglobulinemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc8a leucine rich repeat containing 8A VRAC subunit A ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant | ClinVar Annotator: match by term: LRRC8A-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:30,127,781...30,153,802
Ensembl chr 2:30,127,727...30,153,802 		JBrowse link
agammaglobulinemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79B antigen ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More... NCBI chr11:106,202,167...106,205,388
Ensembl chr11:106,202,167...106,205,588 		JBrowse link
agammaglobulinemia 7 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, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive OMIM
ClinVar		 PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25488983 More... NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725 		JBrowse link
Agammaglobulinemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: TCF3-related condition ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34618307 NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481 		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 8A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 More... NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481 		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, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307 NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481 		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 (zinc transporter), member 7 ISO ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30718914 NCBI chr17:34,247,240...34,250,664
Ensembl chr17:34,247,243...34,250,656 		JBrowse link
autoimmune lymphoproliferative syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkcd protein kinase C, delta ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III OMIM
ClinVar		 PMID:9536098 PMID:11976687 PMID:16199547 PMID:17576681 PMID:23319571 More... NCBI chr14:30,317,310...30,348,637
Ensembl chr14:30,317,311...30,348,167 		JBrowse link
G Rft1 RFT1 homolog ISO ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III ClinVar PMID:11976687 PMID:23319571 PMID:23430113 PMID:28492532 NCBI chr14:30,375,041...30,413,274
Ensembl chr14:30,376,317...30,413,274 		JBrowse link
autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a tumor necrosis factor receptor superfamily, member 11a, NFKB activator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 More... NCBI chr 1:105,708,443...105,777,172
Ensembl chr 1:105,708,443...105,775,709 		JBrowse link
common variable immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 0610010K14Rik RIKEN cDNA 0610010K14 gene ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:70,126,030...70,128,808
Ensembl chr11:70,126,032...70,128,740 		JBrowse link
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,901,009...69,906,254
Ensembl chr11:69,901,009...69,906,237 		JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,772,393...69,786,390
Ensembl chr11:69,772,393...69,786,365 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:70,132,283...70,146,206
Ensembl chr11:70,132,283...70,146,179 		JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,047,898...69,060,617
Ensembl chr11:69,047,815...69,060,618 		JBrowse link
G Alox8 arachidonate 8-lipoxygenase ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,074,711...69,088,669
Ensembl chr11:69,074,758...69,088,669 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,016,243...69,039,941
Ensembl chr11:69,016,722...69,039,941 		JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,939,735...69,948,721
Ensembl chr11:69,944,911...69,948,720 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,983,470...69,997,013
Ensembl chr11:69,983,470...69,997,013 		JBrowse link
G Atp1b2 ATPase, Na+/K+ transporting, beta 2 polypeptide ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,490,554...69,496,786
Ensembl chr11:69,490,562...69,496,768 		JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:68,936,477...68,942,490
Ensembl chr11:68,936,473...68,942,490 		JBrowse link
G Bcl6b B cell CLL/lymphoma 6, member B ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:70,114,953...70,120,624
Ensembl chr11:70,114,954...70,120,624 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:68,950,601...68,952,402
Ensembl chr11:68,950,543...68,952,404 		JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:11472359 PMID:18241230 PMID:25741868 PMID:28492532 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		JBrowse link
G Cd19 CD19 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:16672701 NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:9150729 PMID:9746782 PMID:15358621 PMID:25741868 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cd68 CD68 antigen ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,555,039...69,556,996
Ensembl chr11:69,555,039...69,556,979 		JBrowse link
G Cd81 CD81 antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:142,606,487...142,621,667
Ensembl chr 7:142,606,476...142,621,671 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,234,099...69,260,325
Ensembl chr11:69,234,099...69,260,232 		JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,674,862...69,686,742
Ensembl chr11:69,674,862...69,686,769 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,855,605...69,858,712
Ensembl chr11:69,855,605...69,858,711 		JBrowse link
G Clec10a C-type lectin domain family 10, member A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:70,057,449...70,061,662
Ensembl chr11:70,047,023...70,061,660 		JBrowse link
G Cntrob centrobin, centrosomal BRCA2 interacting protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,188,735...69,214,720
Ensembl chr11:69,190,313...69,214,601 		JBrowse link
G Cr2 complement receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:194,819,120...194,859,096
Ensembl chr 1:194,819,119...194,859,024 		JBrowse link
G Ctc1 CTS telomere maintenance complex component 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,871,994...69,881,427
Ensembl chr11:69,871,982...69,881,427 		JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,281,756...69,287,005
Ensembl chr11:69,282,751...69,286,457 		JBrowse link
G Dclre1c DNA cross-link repair 1A, PSO2 homolog (S. cerevisiae) ISO DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human) RGD PMID:26476407 RGD:11251730 NCBI chr 2:3,425,112...3,475,248
Ensembl chr 2:3,425,168...3,465,167 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,908,029...69,938,107
Ensembl chr11:69,907,768...69,938,348 		JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,311,635...69,439,934
Ensembl chr11:69,311,635...69,439,936 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,891,418...69,900,935
Ensembl chr11:69,891,421...69,903,127 		JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,444,918...69,452,428
Ensembl chr11:69,444,918...69,451,031 		JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,557,762...69,563,249
Ensembl chr11:69,557,762...69,563,249 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,807,538...69,812,784
Ensembl chr11:69,807,540...69,812,784 		JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,859,050...69,872,352
Ensembl chr11:69,859,048...69,873,343 		JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:72,205,270...72,210,245
Ensembl chr11:72,205,270...72,210,242 		JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,686,894...69,693,775
Ensembl chr11:69,686,894...69,692,683 		JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,523,788...69,544,123
Ensembl chr11:69,523,816...69,544,123 		JBrowse link
G Gabarap gamma-aminobutyric acid receptor associated protein ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,882,196...69,885,775
Ensembl chr11:69,881,969...69,885,777 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,804,805...69,807,882
Ensembl chr11:69,804,714...69,807,417 		JBrowse link
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphisms (human) RGD PMID:10361244 RGD:5147864 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881 		JBrowse link
G Icos inducible T cell co-stimulator IAGP
ISO		 OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD		 NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479 		JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia ClinVar PMID:11590134 PMID:15229184 PMID:20529958 PMID:25741868 PMID:28993958 NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926 		JBrowse link
G Il21 interleukin 21 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IL21 DEFICIENCY		 CTD
ClinVar		 PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785 		JBrowse link
G Il21r interleukin 21 receptor ISO DNA:SNPs:exons: RGD PMID:18254984 RGD:6892941 NCBI chr 7:125,202,424...125,232,742
Ensembl chr 7:125,202,601...125,232,742 		JBrowse link
G Kcnab3 potassium voltage-gated channel, shaker-related subfamily, beta member 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,217,084...69,223,867
Ensembl chr11:69,217,084...69,223,868 		JBrowse link
G Kctd11 potassium channel tetramerisation domain containing 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,769,090...69,771,811
Ensembl chr11:69,769,087...69,772,232 		JBrowse link
G Kdm6b KDM1 lysine (K)-specific demethylase 6B ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,289,334...69,311,188
Ensembl chr11:69,289,334...69,304,501 		JBrowse link
G Manba mannosidase, beta A, lysosomal ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:25741868 NCBI chr 3:135,191,367...135,277,165
Ensembl chr 3:135,191,372...135,277,165 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) RGD PMID:10652157 RGD:4889436 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mir195a microRNA 195a ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:70,125,868...70,125,961
Ensembl chr11:70,125,868...70,125,961 		JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,547,523...69,553,475
Ensembl chr11:69,547,523...69,553,468 		JBrowse link
G Ms4a1 membrane-spanning 4-domains, subfamily A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:11,227,043...11,243,513
Ensembl chr19:11,227,039...11,243,605 		JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,286,617...69,287,497
Ensembl chr11:69,286,313...69,287,506 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,792,545...69,804,648
Ensembl chr11:69,791,898...69,804,646 		JBrowse link
G Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common variable immunodeficiency		 CTD
ClinVar		 PMID:16199547 PMID:25741868 PMID:26279205 PMID:28492532 PMID:29477724 More... NCBI chr 3:135,290,416...135,397,422
Ensembl chr 3:135,290,416...135,397,308 		JBrowse link
G Nfkb2 nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 IAGP
ISO		 OMIM:240500 | OMIM:607594 | OMIM:613493 | OMIM:613494 | OMIM:613495 | OMIM:613496 | OMIM:614699 | OMIM:614700 | OMIM:615577 | OMIM:615767
ClinVar Annotator: match by term: Common variable immunodeficiency
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD		 PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 More... NCBI chr19:46,285,478...46,300,839
Ensembl chr19:46,292,759...46,300,824 		JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,713,949...69,728,610
Ensembl chr11:69,713,948...69,728,610 		JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 ISO protein:decreased expression:T cell (human) RGD PMID:22697005 RGD:6771226 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454 		JBrowse link
G Per1 period circadian clock 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:68,985,934...69,000,791
Ensembl chr11:68,986,043...69,000,786 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,886,592...69,890,837
Ensembl chr11:69,886,603...69,890,835 		JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,734,937...69,742,884
Ensembl chr11:69,737,202...69,742,884 		JBrowse link
G Polr2a polymerase (RNA) II (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,624,823...69,649,459
Ensembl chr11:69,624,823...69,649,463 		JBrowse link
G Rag2 recombination activating gene 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 More... NCBI chr 2:101,455,057...101,462,873
Ensembl chr 2:101,455,063...101,462,874 		JBrowse link
G Rnasek ribonuclease, RNase K ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:70,128,949...70,130,678
Ensembl chr11:70,126,032...70,130,656
Ensembl chr11:70,126,032...70,130,656 		JBrowse link
G Sat2 spermidine/spermine N1-acetyl transferase 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,512,824...69,514,857
Ensembl chr11:69,512,850...69,514,696 		JBrowse link
G Senp3 SUMO/sentrin specific peptidase 3 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,563,936...69,572,910
Ensembl chr11:69,563,941...69,572,910 		JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,501,108...69,508,852
Ensembl chr11:69,505,630...69,508,731 		JBrowse link
G Slc13a5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:72,132,816...72,158,092
Ensembl chr11:72,132,815...72,158,048 		JBrowse link
G Slc16a11 solute carrier family 16 (monocarboxylic acid transporters), member 11 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:70,104,717...70,107,239
Ensembl chr11:70,103,578...70,107,243 		JBrowse link
G Slc16a13 solute carrier family 16 (monocarboxylic acid transporters), member 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:70,107,615...70,113,638
Ensembl chr11:70,107,615...70,111,890 		JBrowse link
G Slc2a4 solute carrier family 2 (facilitated glucose transporter), member 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,833,112...69,839,040
Ensembl chr11:69,833,365...69,839,014 		JBrowse link
G Sox15 SRY (sex determining region Y)-box 15 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,545,863...69,547,553
Ensembl chr11:69,546,140...69,547,553 		JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,711,697...69,712,991
Ensembl chr11:69,711,702...69,713,006 		JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,707,386...69,709,313
Ensembl chr11:69,707,392...69,709,291 		JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:72,235,543...72,253,268
Ensembl chr11:72,235,548...72,253,268 		JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,694,421...69,696,450
Ensembl chr11:69,694,429...69,696,450 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:68,961,635...68,964,119
Ensembl chr11:68,961,632...68,964,119 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,729,375...69,730,813
Ensembl chr11:69,729,340...69,730,444 		JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,287,342...69,289,060
Ensembl chr11:69,287,345...69,289,060 		JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,766,880...69,768,997
Ensembl chr11:69,766,883...69,768,879 		JBrowse link
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset		 CTD
ClinVar		 PMID:8072530 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 More... NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		JBrowse link
G Tnfrsf13c tumor necrosis factor receptor superfamily, member 13c ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive		 CTD
ClinVar		 PMID:28492532 NCBI chr15:82,105,943...82,108,581
Ensembl chr15:82,105,944...82,108,570 		JBrowse link
G Tnfsf12 tumor necrosis factor (ligand) superfamily, member 12 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chr11:69,577,066...69,586,924
Ensembl chr11:69,577,076...69,586,675 		JBrowse link
G Tnfsf13 tumor necrosis factor (ligand) superfamily, member 13 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,573,403...69,576,380
Ensembl chr11:69,573,672...69,576,610 		JBrowse link
G Tnfsfm13 tumor necrosis factor (ligand) superfamily, membrane-bound member 13 ISO ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 NCBI chr11:69,573,403...69,586,924
Ensembl chr11:69,573,403...69,586,924 		JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,741,389...69,749,556
Ensembl chr11:69,741,831...69,749,556 		JBrowse link
G Trappc1 trafficking protein particle complex 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,214,812...69,216,619
Ensembl chr11:69,214,806...69,216,619 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Ttc7 tetratricopeptide repeat domain 7 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32499645 More... NCBI chr17:87,590,328...87,689,197
Ensembl chr17:87,590,314...87,689,197 		JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:68,979,354...68,983,207
Ensembl chr11:68,979,316...68,983,210 		JBrowse link
G Wrap53 WD repeat containing, antisense to Trp53 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,452,580...69,471,076
Ensembl chr11:69,452,584...69,471,081 		JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:72,192,229...72,204,560
Ensembl chr11:72,192,455...72,204,559 		JBrowse link
G Ybx2 Y box protein 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,826,652...69,832,430
Ensembl chr11:69,826,622...69,832,431 		JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Common variable immunodeficiency ClinVar PMID:28492532 NCBI chr11:69,656,738...69,674,852
Ensembl chr11:69,656,738...69,674,849 		JBrowse link
common variable immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi2 abl-interactor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:60,444,927...60,521,104
Ensembl chr 1:60,448,778...60,520,317 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:59,201,915...59,276,390
Ensembl chr 1:59,202,085...59,276,390 		JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173 		JBrowse link
G C2cd6 C2 calcium dependent domain containing 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:59,036,275...59,134,283
Ensembl chr 1:59,036,275...59,134,059 		JBrowse link
G Carf calcium response factor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:60,137,380...60,193,112
Ensembl chr 1:60,137,406...60,193,112 		JBrowse link
G Casp8 caspase 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662 		JBrowse link
G Cd28 CD28 antigen ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518 		JBrowse link
G Cdk15 cyclin dependent kinase 15 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:59,296,029...59,391,656
Ensembl chr 1:59,296,065...59,392,152 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:58,750,353...58,798,043
Ensembl chr 1:58,750,667...58,798,043 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Cyp20a1 cytochrome P450, family 20, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:60,382,459...60,427,219
Ensembl chr 1:60,382,482...60,427,219 		JBrowse link
G Fam117b family with sequence similarity 117, member B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:59,952,165...60,024,507
Ensembl chr 1:59,952,165...60,024,505 		JBrowse link
G Flacc1 flagellum associated containing coiled-coil domains 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:58,696,085...58,735,167
Ensembl chr 1:58,686,062...58,735,148 		JBrowse link
G Fzd7 frizzled class receptor 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:59,521,306...59,526,114
Ensembl chr 1:59,521,583...59,526,114 		JBrowse link
G Ica1l islet cell autoantigen 1-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:60,024,955...60,082,646
Ensembl chr 1:60,021,649...60,082,343 		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:11956294 PMID:12353035 PMID:12577056 More... NCBI chr 1:60,999,909...61,039,481
Ensembl chr 1:61,017,086...61,039,479 		JBrowse link
G Mpp4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:59,160,094...59,202,548
Ensembl chr 1:59,160,094...59,202,548 		JBrowse link
G Nbeal1 neurobeachin like 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:60,217,910...60,377,487
Ensembl chr 1:60,219,758...60,377,487 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:58,625,556...58,635,123
Ensembl chr 1:58,625,543...58,635,123 		JBrowse link
G Nfkb2 nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:24140114 PMID:28492532 NCBI chr19:46,285,478...46,300,839
Ensembl chr19:46,292,759...46,300,824 		JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:59,724,165...59,751,352
Ensembl chr 1:59,724,130...59,758,203 		JBrowse link
G Raph1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:60,509,997...60,606,233
Ensembl chr 1:60,521,451...60,606,263 		JBrowse link
G Stradb STE20-related kinase adaptor beta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:59,012,681...59,034,281
Ensembl chr 1:59,012,681...59,034,874 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:59,678,593...59,709,993
Ensembl chr 1:59,625,717...59,709,993 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:59,139,743...59,159,567
Ensembl chr 1:59,139,749...59,159,567 		JBrowse link
G Tnfrsf13b tumor necrosis factor 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 chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		JBrowse link
G Trak2 trafficking protein, kinesin binding 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:58,939,608...59,013,509
Ensembl chr 1:58,939,608...59,012,589 		JBrowse link
G Wdr12 WD repeat domain 12 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 ClinVar PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 More... NCBI chr 1:60,110,520...60,137,659
Ensembl chr 1:60,108,944...60,137,804 		JBrowse link
common variable immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb2 nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 ISO ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16303288 PMID:17576681 PMID:22013103 More... NCBI chr19:46,285,478...46,300,839
Ensembl chr19:46,292,759...46,300,824 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:101,909,279...102,086,525
Ensembl chr 7:101,917,013...102,086,526 		JBrowse link
common variable immunodeficiency 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21 interleukin 21 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 11 OMIM
ClinVar		 PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785 		JBrowse link
common variable immunodeficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 | ClinVar Annotator: match by term: NFKB1-related condition OMIM
ClinVar		 PMID:9383370 PMID:11583829 PMID:16199547 PMID:16639407 PMID:25741868 More... NCBI chr 3:135,290,416...135,397,422
Ensembl chr 3:135,290,416...135,397,308 		JBrowse link
G Nfkbid nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, delta ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 ClinVar NCBI chr 7:30,121,156...30,128,173
Ensembl chr 7:30,121,157...30,128,171 		JBrowse link
common variable immunodeficiency 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: IKZF1-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 OMIM
ClinVar		 PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:27993330 More... NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926 		JBrowse link
common variable immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid4b AT-rich interaction domain 4B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr13:14,238,334...14,374,188
Ensembl chr13:14,237,817...14,374,188 		JBrowse link
G B3galnt2 UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr13:14,129,059...14,173,688
Ensembl chr13:14,129,054...14,173,688 		JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr 8:127,149,267...127,152,174
Ensembl chr 8:127,149,254...127,152,172 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr13:14,224,375...14,238,319
Ensembl chr13:14,225,244...14,238,073 		JBrowse link
G Gm26397 predicted gene, 26397 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr 8:127,671,597...127,671,730
Ensembl chr 8:127,671,597...127,671,730 		JBrowse link
G Gng4 guanine nucleotide binding protein (G protein), gamma 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr13:13,958,644...14,002,480
Ensembl chr13:13,958,644...14,002,481 		JBrowse link
G Irf2bp2 interferon regulatory factor 2 binding protein 2 ISO ClinVar Annotator: match by term: IRF2BP2-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:27016798 PMID:28492532 PMID:35538558 NCBI chr 8:127,315,035...127,320,725
Ensembl chr 8:127,315,035...127,320,725 		JBrowse link
G Kcnk1 potassium channel, subfamily K, member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr 8:126,718,692...126,757,424
Ensembl chr 8:126,721,909...126,757,424 		JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr13:13,764,896...13,953,388
Ensembl chr13:13,764,982...13,953,388 		JBrowse link
G Nid1 nidogen 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr13:13,612,252...13,686,849
Ensembl chr13:13,612,136...13,686,854 		JBrowse link
G Rbm34 RNA binding motif protein 34 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr 8:127,673,922...127,697,799
Ensembl chr 8:127,673,922...127,697,821 		JBrowse link
G Slc35f3 solute carrier family 35, member F3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr 8:126,865,155...127,122,726
Ensembl chr 8:126,865,734...127,122,717 		JBrowse link
G Tarbp1 TAR RNA binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr 8:127,152,053...127,201,837
Ensembl chr 8:127,152,068...127,201,804 		JBrowse link
G Tbce tubulin-specific chaperone E ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr13:14,172,532...14,214,235
Ensembl chr13:14,172,534...14,214,223 		JBrowse link
G Tomm20 translocase of outer mitochondrial membrane 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 ClinVar NCBI chr 8:127,657,414...127,672,671
Ensembl chr 8:127,657,417...127,672,594 		JBrowse link
Common Variable Immunodeficiency 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ruvbl1 RuvB-like AAA ATPase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 ClinVar PMID:28782633 NCBI chr 6:88,442,391...88,474,548
Ensembl chr 6:88,442,391...88,474,554 		JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 OMIM
ClinVar		 PMID:25741868 PMID:28782633 NCBI chr 6:88,480,589...88,495,782
Ensembl chr 6:88,480,561...88,495,887 		JBrowse link
common variable immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh3a2 aldehyde dehydrogenase family 3, subfamily A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:61,114,240...61,158,267
Ensembl chr11:61,114,243...61,158,290 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:60,428,509...60,449,338
Ensembl chr11:60,427,207...60,449,338 		JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:60,291,450...60,309,427
Ensembl chr11:60,291,452...60,309,283 		JBrowse link
G B9d1 B9 protein domain 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757 		JBrowse link
G Cd19 CD19 antigen ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061 		JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:59,708,621...59,739,080
Ensembl chr11:59,708,621...59,730,664 		JBrowse link
G Cr2 complement receptor 2 ISO ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:194,819,120...194,859,096
Ensembl chr 1:194,819,119...194,859,024 		JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:60,243,063...60,285,168
Ensembl chr11:60,244,155...60,285,167 		JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:60,345,442...60,359,589
Ensembl chr11:60,345,417...60,359,580 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:61,406,709...61,470,560
Ensembl chr11:61,408,075...61,470,513 		JBrowse link
G Fam83g family with sequence similarity 83, member G ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:61,574,908...61,600,776
Ensembl chr11:61,574,917...61,600,777 		JBrowse link
G Fbxw10 F-box and WD-40 domain protein 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:62,737,893...62,768,290
Ensembl chr11:62,737,895...62,768,291 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:59,682,234...59,706,138
Ensembl chr11:59,682,234...59,700,842 		JBrowse link
G Flii flightless I actin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:60,604,969...60,618,089
Ensembl chr11:60,604,949...60,618,089 		JBrowse link
G Gid4 GID complex subunit 4, VID24 homolog ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:60,307,971...60,336,103
Ensembl chr11:60,307,971...60,341,753 		JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:61,544,081...61,563,610
Ensembl chr11:61,544,091...61,563,610 		JBrowse link
G Llgl1 LLGL1 scribble cell polarity complex component ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:60,590,501...60,605,012
Ensembl chr11:60,590,549...60,605,012 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:61,379,638...61,385,101
Ensembl chr11:61,379,638...61,385,232 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:59,839,040...59,854,132
Ensembl chr11:59,839,032...59,853,031 		JBrowse link
G Mfap4 microfibrillar-associated protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:61,376,257...61,379,536
Ensembl chr11:61,376,257...61,379,726 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:60,619,224...60,623,777
Ensembl chr11:60,619,224...60,623,777 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:59,552,973...59,671,686
Ensembl chr11:59,552,131...59,671,686 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:59,730,233...59,767,359
Ensembl chr11:59,730,273...59,771,794 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:59,861,440...59,937,394
Ensembl chr11:59,861,440...59,937,315 		JBrowse link
G Pld6 phospholipase D family member 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:59,674,719...59,678,483
Ensembl chr11:59,674,723...59,678,471 		JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase-associated protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:61,620,476...61,652,924
Ensembl chr11:61,620,476...61,652,914 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:59,995,743...60,090,023
Ensembl chr11:59,995,839...60,090,023 		JBrowse link
G Rasd1 RAS, dexamethasone-induced 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:59,854,007...59,855,770
Ensembl chr11:59,854,007...59,855,770 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:61,339,243...61,345,014
Ensembl chr11:61,339,268...61,344,957 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 (soluble) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:60,679,723...60,702,062
Ensembl chr11:60,678,930...60,702,544 		JBrowse link
G Slc47a1 solute carrier family 47, member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:61,234,226...61,269,668
Ensembl chr11:61,234,227...61,269,171 		JBrowse link
G Slc5a10 solute carrier family 5 (sodium/glucose cotransporter), member 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:61,563,608...61,611,641
Ensembl chr11:61,563,607...61,611,652 		JBrowse link
G Smcr8 Smith-Magenis syndrome chromosome region, candidate 8 homolog (human) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:60,668,351...60,679,113
Ensembl chr11:60,668,350...60,679,113 		JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:60,089,910...60,113,407
Ensembl chr11:60,089,915...60,113,407 		JBrowse link
G Tnfrsf13b tumor necrosis factor receptor superfamily, member 13b ISO ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 OMIM
ClinVar		 PMID:8072530 PMID:9536098 PMID:16007086 PMID:16007087 PMID:16199547 More... NCBI chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		JBrowse link
G Tnfrsf13c tumor necrosis factor receptor superfamily, member 13c ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:82,105,943...82,108,581
Ensembl chr15:82,105,944...82,108,570 		JBrowse link
G Tom1l2 target of myb1-like 2 (chicken) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:60,114,622...60,243,766
Ensembl chr11:60,117,540...60,243,731 		JBrowse link
G Top3a topoisomerase (DNA) III alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:60,629,014...60,668,099
Ensembl chr11:60,630,884...60,668,191 		JBrowse link
G Tvp23b trans-golgi network vesicle protein 23B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 ClinVar PMID:28492532 NCBI chr11:62,770,281...62,786,012
Ensembl chr11:62,770,281...62,807,606 		JBrowse link
common variable immunodeficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd19 CD19 antigen ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 3 OMIM
ClinVar		 PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 More... NCBI chr 7:126,007,620...126,016,401
Ensembl chr 7:126,007,622...126,014,061 		JBrowse link
common variable immunodeficiency 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:83,110,923...83,135,930
Ensembl chr15:83,110,923...83,135,975 		JBrowse link
G Aco2 aconitase 2, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,756,664...81,799,338
Ensembl chr15:81,756,510...81,799,334 		JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,012,101...82,026,404
Ensembl chr15:82,012,123...82,026,404 		JBrowse link
G Cenpm centromere protein M ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,115,694...82,128,974
Ensembl chr15:82,117,980...82,128,949 		JBrowse link
G Chadl chondroadherin-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,570,366...81,581,564
Ensembl chr15:81,562,497...81,581,488 		JBrowse link
G Csdc2 cold shock domain containing C2, RNA binding ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,820,960...81,835,142
Ensembl chr15:81,820,960...81,835,142 		JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:83,037,696...83,060,641
Ensembl chr15:83,037,695...83,056,793 		JBrowse link
G Cyp2d22 cytochrome P450, family 2, subfamily d, polypeptide 22 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461 		JBrowse link
G Desi1 desumoylating isopeptidase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,876,724...81,900,364
Ensembl chr15:81,876,724...81,918,063 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G L3mbtl2 L3MBTL2 polycomb repressive complex 1 subunit ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,548,090...81,572,516
Ensembl chr15:81,548,090...81,572,516 		JBrowse link
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,954,275...82,011,018
Ensembl chr15:81,954,197...82,011,015 		JBrowse link
G Mir33 microRNA 33 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,082,323...82,082,391
Ensembl chr15:82,082,323...82,082,391 		JBrowse link
G Naga N-acetyl galactosaminidase, alpha ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,213,746...82,222,983
Ensembl chr15:82,213,733...82,223,126 		JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,234,342...82,238,438
Ensembl chr15:82,234,341...82,238,523 		JBrowse link
G Nfam1 Nfat activating molecule with ITAM motif 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,880,937...82,917,598
Ensembl chr15:82,877,174...82,917,507 		JBrowse link
G Pheta2 PH domain containing endocytic trafficking adaptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,223,148...82,229,911
Ensembl chr15:82,223,143...82,229,944 		JBrowse link
G Phf5a PHD finger protein 5A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,748,717...81,756,093
Ensembl chr15:81,748,721...81,756,112 		JBrowse link
G Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,835,307...81,845,131
Ensembl chr15:81,835,309...81,845,131 		JBrowse link
G Poldip3 polymerase (DNA-directed), delta interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:83,010,169...83,033,579
Ensembl chr15:83,010,177...83,033,585 		JBrowse link
G Polr3h polymerase (RNA) III (DNA directed) polypeptide H ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,799,231...81,813,824
Ensembl chr15:81,772,429...81,810,441 		JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,588,449...81,614,120
Ensembl chr15:81,588,449...81,629,731 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,350,517...81,360,570
Ensembl chr15:81,350,497...81,360,570 		JBrowse link
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:83,000,047...83,007,002
Ensembl chr15:82,997,634...83,007,002 		JBrowse link
G Septin3 septin 3 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,153,003...82,178,775
Ensembl chr15:82,153,003...82,178,775 		JBrowse link
G Serhl serine hydrolase-like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,984,394...83,000,876
Ensembl chr15:82,973,707...83,000,875 		JBrowse link
G Shisa8 shisa family member 8 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,091,153...82,097,004
Ensembl chr15:82,090,369...82,097,016 		JBrowse link
G Smdt1 single-pass membrane protein with aspartate rich tail 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,229,901...82,233,266
Ensembl chr15:82,223,160...82,233,292 		JBrowse link
G Smim45 small integral membrane protein 45 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,136,673...82,144,947
Ensembl chr15:82,136,598...82,144,954 		JBrowse link
G Snu13 SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5) ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,925,546...81,931,799
Ensembl chr15:81,924,726...81,931,799 		JBrowse link
G Srebf2 sterol regulatory element binding factor 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,031,455...82,089,580
Ensembl chr15:82,031,382...82,089,580 		JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:82,692,648...82,872,304
Ensembl chr15:82,692,637...82,872,073 		JBrowse link
G Tef thyrotroph embryonic factor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,686,874...81,711,064
Ensembl chr15:81,686,622...81,711,064 		JBrowse link
G Tnfrsf13c tumor necrosis factor receptor superfamily, member 13c ISO ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19666484 PMID:21041452 PMID:25741868 More... NCBI chr15:82,105,943...82,108,581
Ensembl chr15:82,105,944...82,108,570 		JBrowse link
G Tob2 transducer of ERBB2, 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,732,471...81,744,742
Ensembl chr15:81,732,473...81,742,997 		JBrowse link
G Wbp2nl WBP2 N-terminal like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:82,183,126...82,198,848
Ensembl chr15:82,183,155...82,198,824 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:28492532 NCBI chr15:81,284,282...81,341,683
Ensembl chr15:81,284,339...81,341,683 		JBrowse link
G Xrcc6 X-ray repair complementing defective repair in Chinese hamster cells 6 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,868,805...81,924,286
Ensembl chr15:81,872,036...81,924,286 		JBrowse link
G Zc3h7b zinc finger CCCH type containing 7B ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 ClinVar PMID:19666484 PMID:28492532 NCBI chr15:81,629,299...81,680,470
Ensembl chr15:81,629,258...81,680,461 		JBrowse link
common variable immunodeficiency 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ms4a1 membrane-spanning 4-domains, subfamily A, member 1 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr19:11,227,043...11,243,513
Ensembl chr19:11,227,039...11,243,605 		JBrowse link
common variable immunodeficiency 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd81 CD81 antigen ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 6 OMIM
ClinVar		 PMID:20237408 PMID:25741868 PMID:28492532 NCBI chr 7:142,606,487...142,621,667
Ensembl chr 7:142,606,476...142,621,671 		JBrowse link
common variable immunodeficiency 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AA986860 expressed sequence AA986860 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,659,707...130,672,359
Ensembl chr 1:130,659,713...130,672,359 		JBrowse link
G Cd34 CD34 antigen ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,621,239...194,643,587
Ensembl chr 1:194,621,127...194,643,587 		JBrowse link
G Cd46 CD46 antigen, complement regulatory protein ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557 		JBrowse link
G Cd55 CD55 molecule, decay accelerating factor for complement ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,357,526...130,390,513
Ensembl chr 1:130,366,764...130,390,481 		JBrowse link
G Cr1l complement C3b/C4b receptor 1 like ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,781,019...194,813,878
Ensembl chr 1:194,779,690...194,813,894 		JBrowse link
G Cr2 complement receptor 2 susceptibility ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24033266 More... NCBI chr 1:194,819,120...194,859,096
Ensembl chr 1:194,819,119...194,859,024 		JBrowse link
G Fcamr Fc receptor, IgA, IgM, high affinity ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,712,444...130,753,641
Ensembl chr 1:130,728,639...130,742,477 		JBrowse link
G Fcmr Fc fragment of IgM receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,793,514...130,808,528
Ensembl chr 1:130,793,406...130,808,528 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il19 interleukin 19 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,860,393...130,873,194
Ensembl chr 1:130,860,393...130,867,852 		JBrowse link
G Il20 interleukin 20 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,834,722...130,839,033
Ensembl chr 1:130,834,722...130,839,188 		JBrowse link
G Il24 interleukin 24 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,809,801...130,815,153
Ensembl chr 1:130,809,811...130,815,191 		JBrowse link
G Mir29c microRNA 29c ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,719,855...194,719,942
Ensembl chr 1:194,719,855...194,719,942 		JBrowse link
G Pfkfb2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,616,780...130,656,990
Ensembl chr 1:130,616,919...130,656,990
Ensembl chr 1:130,616,919...130,656,990 		JBrowse link
G Pigr polymeric immunoglobulin receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,754,421...130,779,986
Ensembl chr 1:130,754,421...130,779,986 		JBrowse link
G Plxna2 plexin A2 ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:194,302,020...194,499,177
Ensembl chr 1:194,300,526...194,499,177 		JBrowse link
G Yod1 YOD1 deubiquitinase ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,645,064...130,652,093
Ensembl chr 1:130,645,064...130,652,095 		JBrowse link
G Zp3r zona pellucida 3 receptor ISO ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 ClinVar PMID:28492532 NCBI chr 1:130,474,847...130,557,371
Ensembl chr 1:130,504,450...130,557,358 		JBrowse link
common variable immunodeficiency 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrba LPS-responsive beige-like anchor ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608502 PMID:22721650 More... NCBI chr 3:86,130,763...86,690,001
Ensembl chr 3:86,131,987...86,689,999 		JBrowse link
G Mab21l2 mab-21-like 2 ISO ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity ClinVar PMID:25640679 PMID:26206937 PMID:26768763 PMID:28492532 NCBI chr 3:86,453,357...86,455,590
Ensembl chr 3:86,452,888...86,455,590 		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 Oas1g 2'-5' oligoadenylate synthetase 1G ISO ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia OMIM
ClinVar		 PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 More... NCBI chr 5:121,014,205...121,025,676
Ensembl chr 5:121,014,205...121,025,676 		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 | ClinVar Annotator: match by term: HYOU1-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr 9:44,290,840...44,303,662
Ensembl chr 9:44,290,787...44,303,666 		JBrowse link
immunodeficiency 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh3kbp1 SH3-domain kinase binding protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AGMX2 | ClinVar Annotator: match by term: Immunodeficiency 61		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:29636373 NCBI chr  X:158,409,888...158,758,916
Ensembl chr  X:158,410,268...158,761,065 		JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13a ADP-ribosylation factor-like 13A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,088,250...133,108,779
Ensembl chr  X:133,088,250...133,108,777 		JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,618,615...133,623,487
Ensembl chr  X:133,618,712...133,622,666 		JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,704,891...133,709,970
Ensembl chr  X:133,704,894...133,709,970 		JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,657,301...133,662,206
Ensembl chr  X:133,657,344...133,662,204 		JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,586,399...133,598,524
Ensembl chr  X:133,587,268...133,597,506 		JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,649,204...133,657,236
Ensembl chr  X:133,649,210...133,652,166 		JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 More... NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,206,777...133,263,853
Ensembl chr  X:133,208,833...133,263,388 		JBrowse link
G Cstf2 cleavage stimulation factor, 3' pre-RNA subunit 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:132,959,925...132,987,571
Ensembl chr  X:132,959,936...132,987,568 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,304,868...133,357,323
Ensembl chr  X:133,305,300...133,357,322 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:133,488,912...133,501,707
Ensembl chr  X:133,488,898...133,501,874 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:133,501,928...133,507,809
Ensembl chr  X:133,501,928...133,507,809 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:132,987,170...133,038,455
Ensembl chr  X:132,987,170...133,122,705 		JBrowse link
G Nxf2 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,845,275...133,865,503
Ensembl chr  X:133,845,275...133,865,503 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:132,483,609...132,589,802
Ensembl chr  X:132,483,609...132,589,736 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:133,486,403...133,488,811
Ensembl chr  X:133,486,403...133,488,811 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:132,809,155...132,833,195
Ensembl chr  X:132,809,175...132,833,195 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:132,837,134...132,882,569
Ensembl chr  X:132,837,134...132,882,561 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,360,865...133,377,254
Ensembl chr  X:133,360,867...133,377,239 		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:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More... NCBI chr  X:133,438,005...133,442,419
Ensembl chr  X:133,438,005...133,442,614 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,195,974...133,206,718
Ensembl chr  X:133,195,974...133,206,718 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:132,751,757...132,766,326
Ensembl chr  X:132,751,729...132,766,326 		JBrowse link
G Trmt2b TRM2 tRNA methyltransferase 2B ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,123,704...133,177,770
Ensembl chr  X:133,123,088...133,177,733 		JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:132,791,817...132,801,957
Ensembl chr  X:132,791,817...132,799,178 		JBrowse link
G Xkrx X-linked Kx blood group related, X-linked ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,049,786...133,086,747
Ensembl chr  X:133,049,792...133,062,825 		JBrowse link
X-linked agammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton agammaglobulinemia tyrosine kinase ameliorates ISO
IAGP		 ClinVar Annotator: match by term: X-linked agammaglobulinemia
CTD Direct Evidence: marker/mechanism
Human gene in mouse model
human gene in a mouse model
OMIM:300310 | OMIM:300755
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 PMID:7627183 More... RGD:124715475, RGD:124713551, RGD:11040698, RGD:11040588 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		JBrowse link
G Col4a3 collagen, type IV, alpha 3 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia ClinVar PMID:26809805 PMID:28492532 PMID:34120753 PMID:36100708 NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 IAGP OMIM:300310 | OMIM:300755 MouseDO NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725 		JBrowse link
X-Linked Hypogammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton agammaglobulinemia tyrosine kinase ISO ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked ClinVar PMID:8758136 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16177
    syndrome 10682
      primary immunodeficiency disease 4024
        lymphoproliferative syndrome 1115
          agammaglobulinemia 365
            Achondroplasia and Swiss Type Agammaglobulinemia 0
            Agammaglobulinemia 8 + 1
            Agammaglobulinemia, Microcephaly, and Severe Dermatitis 0
            Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant 0
            Agammaglobulinemia, non-Bruton type 0
            Frenkel Russe Syndrome 0
            Good syndrome 0
            IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA 1
            Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 0
            Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
            Say-Barber-Miller Syndrome 0
            X-Linked Hypogammaglobulinemia 1
            X-linked agammaglobulinemia + 4
            adenosine deaminase deficiency 75
            agammaglobulinemia 1 3
            agammaglobulinemia 10 1
            agammaglobulinemia 2 8
            agammaglobulinemia 3 2
            agammaglobulinemia 4 7
            agammaglobulinemia 5 1
            agammaglobulinemia 6 1
            agammaglobulinemia 7 1
            agammaglobulinemia 9 1
            autosomal recessive osteopetrosis 7 1
            common variable immunodeficiency + 237
            immunodeficiency 59 1
            isolated growth hormone deficiency type III 25
            transient hypogammaglobulinemia + 0
Path 2
Term Annotations click to browse term
  disease 16177
    disease of anatomical entity 15790
      Immune & Inflammatory Diseases 5355
        immune system disease 4629
          Immunoproliferative Disorders 1123
            lymphoproliferative syndrome 1115
              agammaglobulinemia 365
                Achondroplasia and Swiss Type Agammaglobulinemia 0
                Agammaglobulinemia 8 + 1
                Agammaglobulinemia, Microcephaly, and Severe Dermatitis 0
                Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant 0
                Agammaglobulinemia, non-Bruton type 0
                Frenkel Russe Syndrome 0
                Good syndrome 0
                IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA 1
                Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 0
                Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
                Say-Barber-Miller Syndrome 0
                X-Linked Hypogammaglobulinemia 1
                X-linked agammaglobulinemia + 4
                adenosine deaminase deficiency 75
                agammaglobulinemia 1 3
                agammaglobulinemia 10 1
                agammaglobulinemia 2 8
                agammaglobulinemia 3 2
                agammaglobulinemia 4 7
                agammaglobulinemia 5 1
                agammaglobulinemia 6 1
                agammaglobulinemia 7 1
                agammaglobulinemia 9 1
                autosomal recessive osteopetrosis 7 1
                common variable immunodeficiency + 237
                immunodeficiency 59 1
                isolated growth hormone deficiency type III 25
                transient hypogammaglobulinemia + 0
paths to the root