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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:combined immunodeficiency
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Accession:DOID:0111962 term browser browse the term
Definition:A primary immunodeficiency disease that involves multiple components of the immune system. (DO)
Synonyms:narrow_synonym: MAN2B2-RELATED DISORDER



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combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 NCBI chr 2:175,138,391...175,178,280 JBrowse link
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:27965109 PMID:28368018 PMID:28492532 PMID:29127144 More... NCBI chr12:14,595,939...14,609,501 JBrowse link
G Bcl11b BCL11 transcription factor B ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25627829 PMID:27959755 NCBI chr 6:126,834,531...126,927,720 JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:40,425,560...40,724,810 JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:28112205 NCBI chr19:33,571,255...33,586,783 JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:25843314 PMID:28492532 PMID:32499645 NCBI chr 4:158,030,700...158,035,862 JBrowse link
G Copg1 COPI coat complex subunit gamma 1 ISS MouseDO NCBI chr 4:120,366,540...120,392,502 JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:30498080 NCBI chr20:10,600,420...10,610,718 JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 NCBI chr  X:66,395,330...66,399,026 JBrowse link
G Man2b2 mannosidase, alpha, class 2B, member 2 ISO ClinVar Annotator: match by term: MAN2B2-related disorder ClinVar PMID:25741868 PMID:31775018 NCBI chr14:73,969,079...73,994,089 JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr15:32,416,525...32,439,851 JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:23770608 PMID:25741868 PMID:28492532 PMID:30023403 PMID:31278166 More... NCBI chr 1:104,161,984...104,178,074 JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 More... NCBI chr 9:56,911,522...56,951,926 JBrowse link
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:26642240 NCBI chr11:81,668,478...81,690,318 JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:20018682 PMID:23320496 PMID:24033266 PMID:24194475 PMID:24424126 More... NCBI chr13:81,993,172...82,016,496 JBrowse link
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:20301777 PMID:25627829 PMID:25741868 PMID:26783323 PMID:28492532 More... NCBI chr 9:46,485,605...46,507,552 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 3:153,531,192...153,542,851 JBrowse link
G Ada adenosine deaminase ISO
ISS
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
OMIM:102700
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
OMIM
ClinVar
MouseDO
CTD
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr 3:152,398,745...152,422,854 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 3:152,491,247...152,502,639 JBrowse link
G Cd247 Cd247 molecule ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 More... NCBI chr13:80,576,264...80,651,422 JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:54,200,617...54,211,770 JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chr 8:54,177,572...54,184,087 JBrowse link
G Cd40 CD40 molecule 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 3:174,209,113...174,224,592 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 3:153,845,563...153,970,630 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 3:153,569,106...153,574,983 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 3:153,216,300...153,220,651 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 3:153,481,718...153,505,403 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 3:154,023,661...154,061,259 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 3:153,312,396...153,319,310 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 3:172,560,781...172,567,291 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 3:152,110,225...152,129,693 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 3:151,736,020...151,738,715 JBrowse link
G Hnf4a hepatocyte 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 3:152,186,787...152,248,320 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 3:151,672,505...151,696,975 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 chr16:18,418,807...18,432,515 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 3:172,414,246...172,478,678 JBrowse link
G Kcnk15 potassium two pore domain 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 3:152,515,237...152,521,455 JBrowse link
G Kcns1 potassium voltage-gated channel, modifier subfamily S, member 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 3:152,835,642...152,843,032 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 3:153,120,605...153,135,628 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 3:174,103,474...174,111,434 JBrowse link
G Mybl2 MYB proto-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 3:172,124,765...172,153,221 JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr15:32,416,525...32,439,851 JBrowse link
G Nbn nibrin 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:25326637 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chr 5:34,256,678...34,291,163 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 3:153,736,420...153,769,838 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 3:153,566,659...153,569,380 JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:12604777 PMID:16439204 PMID:16439205 PMID:16571728 PMID:20597108 More... NCBI chr 9:76,526,322...76,622,488 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 3:154,131,113...154,141,611 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 3:152,066,975...152,085,180 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 3:173,111,856...173,145,389 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 3:153,614,147...153,627,079 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 3:153,227,749...153,236,922 JBrowse link
G Pkig cAMP-dependent 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 3:172,749,871...172,817,514 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 3:153,574,825...153,592,647 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 3:152,171,382...152,182,151 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 3:87,917,061...87,928,158 JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:15025726 PMID:24174341 PMID:25741868 PMID:26457731 PMID:28492532 More... NCBI chr 3:87,902,373...87,910,227 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 3:153,134,044...153,147,421 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 3:152,520,982...152,585,070 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 3:153,154,888...153,173,576 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 3:152,910,033...152,912,882 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 3:152,301,882...152,321,327 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 3:153,696,517...153,735,801 JBrowse link
G Slc13a3 solute carrier family 13 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 3:154,141,878...154,204,604 JBrowse link
G Slc2a10 solute carrier family 2 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 3:174,659,683...174,671,978 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 3:154,012,262...154,023,549 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 3:173,501,573...173,503,822 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 3:153,522,474...153,532,235 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 3:153,562,479...153,566,508 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 3:153,293,969...153,296,717 JBrowse link
G Spint4 serine peptidase 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 3:153,430,633...153,432,821 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 3:173,165,238...173,247,135 JBrowse link
G Sys1 Sys1 golgi trafficking 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 3:153,191,061...153,195,463 JBrowse link
G Tnnc2 troponin C2, fast skeletal type 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 3:153,513,272...153,516,033 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 3:173,148,737...173,165,689 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 3:151,853,294...151,980,086 JBrowse link
G Tp53rka Tp53 tumor protein p53 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 3:174,638,962...174,645,198 JBrowse link
G Tp53tg5 TP53 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 3:153,200,792...153,204,337 JBrowse link
G Ttpal alpha tocopherol 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 3:152,278,246...152,296,550 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 3:173,925,975...173,928,375 JBrowse link
G Wfdc10a WAP four-disulfide core domain 10A 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 3:153,390,067...153,391,420 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 3:153,397,585...153,406,407 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 3:152,861,461...152,862,784 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 3:153,419,553...153,421,306 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 3:153,286,946...153,314,832 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 3:153,464,862...153,478,952 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 3:152,849,025...152,854,868 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 3:153,305,336...153,309,144 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 3:153,323,503...153,339,849 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 3:153,380,554...153,389,055 JBrowse link
G Ywhab tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta 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 3:173,078,904...173,101,508 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 3:154,112,537...154,125,087 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 3:153,618,587...153,648,213 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 3:153,559,104...153,562,821 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 3:153,542,741...153,558,022 JBrowse link
CD3epsilon deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:53,508,005...53,525,314 JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:55,423,945...55,425,729 JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:55,435,779...55,438,160 JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:46,531,478...46,533,658 JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,954,401...53,979,005 JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:52,247,047...52,373,158 JBrowse link
G Atp5mg ATP synthase membrane subunit G ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,122,457...54,130,407 JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:55,038,842...55,061,138 JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,708,770...53,738,880 JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:53,347,754...53,349,912 JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:53,544,887...53,557,127 JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:53,384,656...53,468,067 JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,184,573...54,190,112 JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,200,617...54,211,770 JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,177,572...54,184,087 JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,632,777...53,639,661 JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:54,967,621...55,031,264 JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,738,878...53,756,813 JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,827,661...53,864,538 JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,560,869...53,567,625 JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:53,468,344...53,481,168 JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:54,637,054...54,954,042 JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,657,388...53,669,424 JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:45,712,901...45,720,032 JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:45,679,054...45,705,958 JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:42,903,043...43,331,990 JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,568,718...53,570,072 JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:53,525,576...53,541,101 JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,570,364...53,577,758 JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,602,882...53,614,998 JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,975,085...54,000,837 JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,459,754...54,474,786 JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,281,596...54,313,655 JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,013,547...54,089,219 JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:44,479,391...44,487,575 JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:44,445,636...44,450,859 JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,244,920...54,256,064 JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,257,235...54,277,422 JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:44,101,776...44,164,863 JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:53,481,209...53,485,793 JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:53,486,866...53,503,498 JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:43,594,362...43,612,334 JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:46,260,069...46,312,073 JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:55,098,821...55,121,416 JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,900,338...53,948,325 JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:43,495,408...43,577,795 JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:46,166,269...46,202,048 JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:44,454,551...44,456,745 JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,630,333...53,632,810 JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:42,629,649...42,641,257 JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,322,383...54,334,519 JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,343,873...54,359,046 JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:55,129,091...55,146,446 JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:55,208,969...55,419,138 JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,619,952...53,626,110 JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:51,238,713...51,401,458 JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:55,121,647...55,127,121 JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:42,795,648...42,854,552 JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:42,707,962...42,779,726 JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:53,286,396...53,291,541 JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:43,481,388...43,486,288 JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,003,907...54,009,469 JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:45,625,759...45,653,943 JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,475,819...45,508,409 JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,626,382...53,630,042 JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,886,946...53,901,113 JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:52,579,175...52,603,919 JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,009,522...54,013,129 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,132,799...54,174,921 JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,675,994...53,677,986 JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:53,308,264...53,336,800 JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,580,939...53,595,378 JBrowse link
CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM ClinVar PMID:25741868 PMID:29884852 NCBI chr 3:174,209,113...174,224,592 JBrowse link
G Cd40lg CD40 ligand disease_progression ISO ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)
ClinVar
RGD
CTD
OMIM
PMID:15611226 PMID:21841160 PMID:25741868 PMID:28492532 PMID:21841160 More... RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:140,164,341...140,176,057 JBrowse link
combined cellular and humoral immune defects with granulomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iftap intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas ClinVar PMID:8810255 PMID:11133745 PMID:24290284 PMID:25739914 PMID:28492532 NCBI chr 3:87,812,068...87,906,517 JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:290284 PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 More... NCBI chr 3:87,917,061...87,928,158 JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2618670 PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 More... NCBI chr 3:87,902,373...87,910,227 JBrowse link
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia ClinVar
OMIM
PMID:11004530 PMID:15633187 PMID:16199547 PMID:16315005 PMID:16552426 More... NCBI chr 6:94,977,862...95,045,375 JBrowse link
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation
OMIM
CTD
ClinVar
PMID:2363422 PMID:9536098 PMID:12786759 PMID:13524805 PMID:16470600 More... NCBI chr 8:28,939,984...28,946,639 JBrowse link
combined T cell and B cell immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Congenital combined immunodeficiency ClinVar PMID:25741868 NCBI chr 2:175,138,391...175,178,280 JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:40,425,560...40,724,810 JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:25741868 NCBI chr19:33,571,255...33,586,783 JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:25741868 PMID:25843314 PMID:28492532 PMID:32499645 NCBI chr 4:158,030,700...158,035,862 JBrowse link
G Cd40lg CD40 ligand ISO DNA:polymorphism: :p.G219R (human) RGD PMID:21543760 RGD:5490593 NCBI chr  X:140,164,341...140,176,057 JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO
IMP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined immunodeficiency, X-linked | ClinVar Annotator: match by term: X-Linked Combined Immunodeficiency Diseases
OMIM
CTD
ClinVar
RGD
PMID:7557965 PMID:7632950 PMID:7668284 PMID:7883965 PMID:7973658 More... RGD:2316325 NCBI chr  X:66,395,330...66,399,026 JBrowse link
G Il2rgem1Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo IMP RGD PMID:20111598 RGD:2316325
G Il2rgem2Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo IMP RGD PMID:20111598 RGD:2316325
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr15:32,416,525...32,439,851 JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 More... NCBI chr 9:56,911,522...56,951,926 JBrowse link
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:25741868 PMID:26642240 NCBI chr11:81,668,478...81,690,318 JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:20018682 PMID:23320496 PMID:24033266 PMID:24194475 PMID:24424126 More... NCBI chr13:81,993,172...82,016,496 JBrowse link
coronin-1A deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,402,275...181,407,476 JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 6:72,939,821...72,941,511 JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,552,968...181,556,902 JBrowse link
G Bola2 bolA family member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:181,291,967...181,292,833 JBrowse link
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,434,524...181,441,000 JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,583,098...181,587,409 JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8 OMIM
ClinVar
PMID:2825199 PMID:9536098 PMID:14615364 PMID:16199547 PMID:17576681 More... NCBI chr 1:181,295,561...181,300,566 JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,457,415...181,462,528 JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,373,505...181,383,063 JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION ClinVar PMID:17615540 PMID:25073507 PMID:25741868 PMID:26694549 NCBI chr15:31,181,360...31,206,820 JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,472,537...181,475,082 JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:190,891,315...190,902,902 JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,534,534...181,552,843 JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,635,347...181,650,351 JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:16199547 PMID:22608502 PMID:25741868 PMID:26206937 PMID:26768763 More... NCBI chr 2:173,919,330...174,500,536 JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:190,797,189...190,803,411 JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,629,742...181,635,193 JBrowse link
G Mcee methylmalonyl CoA epimerase ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:17823972 PMID:25073507 PMID:28492532 NCBI chr 1:117,964,576...117,987,779 JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:191,025,259...191,052,866 JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,622,698...181,625,024 JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,392,899...181,399,703 JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,625,243...181,628,833 JBrowse link
G Rhoh ras homolog family member H ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:25741868 PMID:28492532 NCBI chr14:42,694,860...42,725,690 JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,557,109...181,577,456 JBrowse link
G Slx1b SLX1 homolog B, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION ClinVar PMID:28492532 NCBI chr 1:181,286,190...181,291,739 JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:190,906,236...190,925,359 JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,387,851...181,392,762 JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,421,104...181,439,744 JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,496,195...181,509,259 JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 More... NCBI chr 1:181,384,385...181,387,706 JBrowse link
DNA ligase IV deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lig4 DNA ligase 4 ISO
ISS
ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders | ClinVar Annotator: match by term: LIG4-related disorder
OMIM:606593
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.R278H (mouse)
DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human)
DNA:missense mutation: :p.Y288C (mouse)
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1779494 PMID:2489227 PMID:2523926 PMID:5333585 PMID:7063650 More... RGD:13204717, RGD:13204707, RGD:8694074 NCBI chr16:79,518,393...79,526,956 JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:157,352,364...157,372,144 JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:
OMIM
ClinVar
CTD
RGD
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:157,358,279...157,397,563 JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il7 interleukin 7 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 | ClinVar Annotator: match by term: IL7-related condition OMIM
ClinVar
PMID:25741868 PMID:25981006 PMID:28492532 PMID:31900472 PMID:39352394 NCBI chr 2:96,142,523...96,186,282 JBrowse link
immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 More... NCBI chr 1:156,656,246...156,818,777 JBrowse link
Immunodeficiency 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:54,184,573...54,190,112 JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: IL7R-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 104, SEVERE COMBINED | ClinVar Annotator: match by term: Immunodeficiency 104 OMIM
ClinVar
PMID:9536098 PMID:9843216 PMID:10899029 PMID:11023514 PMID:15615257 More... NCBI chr 2:58,452,393...58,477,757 JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 104, SEVERE COMBINED | ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:7621884 PMID:9536098 PMID:10700239 PMID:11101853 PMID:11528386 More... NCBI chr13:52,147,717...52,259,810 JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:87,917,061...87,928,158 JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:20603253 PMID:21131235 PMID:24481607 PMID:25741868 PMID:26476733 More... NCBI chr 3:87,902,373...87,910,227 JBrowse link
Immunodeficiency 105 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprc protein tyrosine phosphatase, receptor type, C ISO ClinVar Annotator: match by term: Immunodeficiency 105 | ClinVar Annotator: match by term: Immunodeficiency 105, severe combined OMIM
ClinVar
PMID:7621884 PMID:9068311 PMID:10700239 PMID:11101853 PMID:11145714 More... NCBI chr13:52,147,717...52,259,810 JBrowse link
immunodeficiency 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amz1 archaelysin family metallopeptidase 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr12:13,886,518...13,924,275 JBrowse link
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr12:13,928,889...13,951,760 JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18323416 PMID:23027925 More... NCBI chr12:18,735,088...18,872,045 JBrowse link
G Gna12 G protein subunit alpha 12 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr12:13,805,580...13,886,255 JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr12:13,943,290...13,982,708 JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr12:19,144,474...19,152,951 JBrowse link
G Ttyh3 tweety family member 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 NCBI chr12:13,996,831...14,025,457 JBrowse link
immunodeficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk2 alpha-kinase 2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:61,045,717...61,161,703 JBrowse link
G Atp8b1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:60,286,605...60,427,862 JBrowse link
G Ccbe1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:61,849,821...62,093,876 JBrowse link
G Cplx4 complexin 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:59,481,360...59,504,716 JBrowse link
G Fech ferrochelatase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:57,945,123...57,978,327 JBrowse link
G Grp gastrin releasing peptide ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:59,388,679...59,402,061 JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:59,508,996...59,530,873 JBrowse link
G Malt1 MALT1 paracaspase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency | ClinVar Annotator: match by term: Immunodeficiency 12 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr18:61,212,290...61,266,272 JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:62,689,798...62,691,685 JBrowse link
G Mir122 microRNA 122 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:61,028,817...61,028,901 JBrowse link
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:57,989,308...58,005,584 JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:58,393,759...58,726,709 JBrowse link
G Pmaip1 phorbol-12-myristate-13-acetate-induced protein 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:62,255,970...62,262,384 JBrowse link
G Rax retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:59,463,347...59,467,469 JBrowse link
G Sec11c SEC11 homolog C, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:61,590,905...61,607,247 JBrowse link
G Zfp532 zinc finger protein 532 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency ClinVar PMID:28492532 NCBI chr18:59,080,082...59,203,672 JBrowse link
immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:164,215,223...164,220,408 JBrowse link
G Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:164,527,083...164,677,037 JBrowse link
G Cenps centromere protein S ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,563,917...159,573,534 JBrowse link
G Ciroz ciliated left-right organizer protein containing ZP-N domains ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:164,358,333...164,393,758 JBrowse link
G Clstn1 calsyntenin 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,031,235...160,094,585 JBrowse link
G Cort cortistatin ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,560,591...159,562,032 JBrowse link
G Ctnnbip1 catenin, beta-interacting protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,961,961...160,010,942 JBrowse link
G Dffa DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,540,715...159,553,639 JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:164,278,414...164,302,067 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT ClinVar PMID:5448 PMID:1303173 PMID:1924316 PMID:2572288 PMID:2836867 More... NCBI chr  X:157,352,364...157,372,144 JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:164,890,778...165,025,848 JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,928,260...159,941,512 JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:164,319,017...164,332,686 JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:164,167,985...164,277,438 JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,910,242...159,928,201 JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,399,776...159,536,260 JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,582,746...159,598,945 JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO ClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive | ClinVar Annotator: match by term: p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCY OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16984281 PMID:17576681 PMID:24136356 More... NCBI chr 5:165,377,994...165,426,620 JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Activated PI3K-delta syndrome ClinVar PMID:10768093 PMID:25741868 PMID:28143957 PMID:28492532 PMID:31031754 NCBI chr 2:34,612,946...34,697,660 JBrowse link
G Rbp7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,889,723...159,894,338 JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:164,309,002...164,312,203 JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:164,330,452...164,348,435 JBrowse link
G Ube4b ubiquitination factor E4B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:165,049,897...165,153,572 JBrowse link
immunodeficiency 15A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO
ISS
OMIM:618204
ClinVar Annotator: match by term: Immunodeficiency 15a
OMIM
MouseDO
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30337470 NCBI chr16:76,021,968...76,075,717 JBrowse link
immunodeficiency 15B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank1 ankyrin 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:68,876,294...69,054,963 JBrowse link
G Ap3m2 adaptor related protein complex 3 subunit mu 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,217,526...69,237,372 JBrowse link
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:64,697,741...64,704,441 JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:64,713,438...64,751,360 JBrowse link
G Dkk4 dickkopf WNT signaling pathway inhibitor 4 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,403,215...69,406,580 JBrowse link
G Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:66,065,131...66,083,460 JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:66,105,233...66,137,444 JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:72,656,929...72,751,696 JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B OMIM
ClinVar
PMID:9536098 PMID:10195897 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr16:76,021,968...76,075,717 JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,084,914...69,165,923 JBrowse link
G Plat plasminogen activator, tissue type ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:75,943,061...76,022,037 JBrowse link
G Polb DNA polymerase beta ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,379,438...69,402,710 JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:72,788,842...72,801,122 JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:65,928,886...65,954,092 JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,460,850...69,551,418 JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,551,507...69,564,323 JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:65,905,348...65,909,942 JBrowse link
G Vdac3 voltage-dependent anion channel 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B ClinVar PMID:28492532 NCBI chr16:69,434,982...69,451,473 JBrowse link
immunodeficiency 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,783,382...171,797,709 JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,518,470...170,519,870 JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,031,528...172,064,429 JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,680,597...171,682,854 JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,126,573...170,148,624 JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,632,545...171,652,725 JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,866,428...171,868,564 JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,833,854...171,838,229 JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,983,700...172,001,373 JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:169,867,706...169,881,820 JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,698,951...171,711,037 JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,495,042...171,521,143 JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:169,817,383...169,849,681 JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,252,907...171,328,351 JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,757,181...171,761,271 JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,738,911...171,750,967 JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,083,328...171,097,599 JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,581,960...171,584,519 JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,240,813...171,252,709 JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,357,778...171,424,489 JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,804,511...170,807,988 JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,761,370...171,779,883 JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,066,369...172,067,656 JBrowse link
G Klhl17 kelch-like family member 17 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,095,701...172,101,945 JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:169,852,926...169,862,598 JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,020,699...170,121,557 JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,526,037...171,542,479 JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,930,717...171,930,805 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,931,495...171,931,589 JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,929,682...171,929,766 JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,713,602...170,744,058 JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,521,905...171,525,007 JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,928,086...170,987,219 JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,690,664...171,695,728 JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,731,153...171,735,879 JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,427,973...171,458,586 JBrowse link
G Noc2l NOC2-like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,102,369...172,114,168 JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,807,744...170,824,478 JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,910,136...170,915,302 JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,826,543...170,885,012 JBrowse link
G Plekhn1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,087,524...172,095,566 JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,162,275...170,486,371 JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,101,774...171,212,694 JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,744,953...170,747,556 JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,773,284...171,782,893 JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,916,643...170,929,073 JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,005,566...172,008,456 JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:172,113,900...172,142,026 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,868,591...171,885,827 JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,995,851...171,064,957 JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,465,222...171,493,317 JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:169,861,751...169,867,070 JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,595,919...171,625,675 JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,750,937...171,754,993 JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,625,830...171,653,836 JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,330,948...171,332,704 JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,673,319...171,676,143 JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,768,413...170,776,749 JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,901,734...171,904,578 JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency | ClinVar Annotator: match by term: Immunodeficiency 16 OMIM
ClinVar
PMID:9536098 PMID:9683594 PMID:10862081 PMID:16199547 PMID:17576681 More... NCBI chr 5:171,889,134...171,891,824 JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:169,903,801...169,988,075 JBrowse link
G Tprg1l tumor protein p63 regulated 1-like ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,004,577...170,007,784 JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:170,693,410...170,711,215 JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,912,371...171,937,733 JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,815,607...171,830,037 JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:171,659,694...171,664,880 JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:169,988,538...170,004,071 JBrowse link
immunodeficiency 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:53,508,005...53,525,314 JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:55,423,945...55,425,729 JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:55,435,779...55,438,160 JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:46,531,478...46,533,658 JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,954,401...53,979,005 JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:52,247,047...52,373,158 JBrowse link
G Atp5mg ATP synthase membrane subunit G ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,122,457...54,130,407 JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:55,038,842...55,061,138 JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,708,770...53,738,880 JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:53,347,754...53,349,912 JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:53,544,887...53,557,127 JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:53,384,656...53,468,067 JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Immunodeficiency 19 | ClinVar Annotator: match by term: SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE OMIM
ClinVar
PMID:1635567 PMID:8490660 PMID:9536098 PMID:10935641 PMID:14602880 More... NCBI chr 8:54,184,573...54,190,112 JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,200,617...54,211,770 JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,177,572...54,184,087 JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,632,777...53,639,661 JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:54,967,621...55,031,264 JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,738,878...53,756,813 JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,827,661...53,864,538 JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,560,869...53,567,625 JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:53,468,344...53,481,168 JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:54,637,054...54,954,042 JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,657,388...53,669,424 JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:45,712,901...45,720,032 JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:45,679,054...45,705,958 JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:42,903,043...43,331,990 JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,568,718...53,570,072 JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:53,525,576...53,541,101 JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,570,364...53,577,758 JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,602,882...53,614,998 JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,975,085...54,000,837 JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,459,754...54,474,786 JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,281,596...54,313,655 JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,013,547...54,089,219 JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:44,479,391...44,487,575 JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:44,445,636...44,450,859 JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,244,920...54,256,064 JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,257,235...54,277,422 JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:44,101,776...44,164,863 JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:53,481,209...53,485,793 JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:53,486,866...53,503,498 JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:43,594,362...43,612,334 JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:46,260,069...46,312,073 JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:55,098,821...55,121,416 JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,900,338...53,948,325 JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:43,495,408...43,577,795 JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:46,166,269...46,202,048 JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:44,454,551...44,456,745 JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,630,333...53,632,810 JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:42,629,649...42,641,257 JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,322,383...54,334,519 JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,343,873...54,359,046 JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:55,129,091...55,146,446 JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:55,208,969...55,419,138 JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,619,952...53,626,110 JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:51,238,713...51,401,458 JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:55,121,647...55,127,121 JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:42,795,648...42,854,552 JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:42,707,962...42,779,726 JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:53,286,396...53,291,541 JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:43,481,388...43,486,288 JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,003,907...54,009,469 JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:45,625,759...45,653,943 JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,475,819...45,508,409 JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,626,382...53,630,042 JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,886,946...53,901,113 JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:52,579,175...52,603,919 JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,009,522...54,013,129 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:54,132,799...54,174,921 JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,675,994...53,677,986 JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 8:53,308,264...53,336,800 JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:53,580,939...53,595,378 JBrowse link
immunodeficiency 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lck LCK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency OMIM
ClinVar
PMID:9325251 PMID:9536098 PMID:11904433 PMID:16199547 PMID:17576681 More... NCBI chr 5:147,172,642...147,201,267 JBrowse link
immunodeficiency 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 More... NCBI chr 8:87,415,266...87,517,935 JBrowse link
G Me1 malic enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr 8:96,429,057...96,540,244 JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 OMIM
ClinVar
PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chr 8:87,518,317...87,536,021 JBrowse link
G Prss35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:87,714,449...87,731,009 JBrowse link
G Rwdd2a RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 NCBI chr 8:87,536,153...87,539,301 JBrowse link
G Snap91 synaptosome associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:87,738,056...87,852,690 JBrowse link
G Tpbg trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:86,793,953...86,797,324 JBrowse link
G Ube3d ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:87,245,503...87,413,104 JBrowse link
immunodeficiency 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctps1 CTP synthase 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24870241 More... NCBI chr 5:134,125,022...134,154,155 JBrowse link
G Scmh1 Scm polycomb group protein homolog 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency ClinVar PMID:28492532 NCBI chr 5:139,276,352...139,401,118 JBrowse link
G Slfnl1 schlafen-like 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency ClinVar PMID:28492532 NCBI chr 5:134,117,634...134,122,105 JBrowse link
immunodeficiency 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clxn calaxin ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr11:85,977,231...85,996,561 JBrowse link
G Mcm4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr11:98,762,599...98,776,300 JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO ClinVar Annotator: match by term: PRKDC-related condition | ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19075392 PMID:23722905 More... NCBI chr11:98,544,952...98,762,499 JBrowse link
G Snai2 snail family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr11:99,686,934...99,690,349 JBrowse link
G Ube2v2 ubiquitin conjugating enzyme E2 V2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr11:98,808,681...98,842,583 JBrowse link
immunodeficiency 32B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fendrr FOXF1 adjacent non-coding developmental regulatory RNA ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr19:49,127,225...49,152,780 JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr19:66,094,718...66,097,420 JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr19:49,153,949...49,157,741 JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Immunodeficiency 32B OMIM
ClinVar
PMID:6279813 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21524210 More... NCBI chr19:48,790,581...48,812,363 JBrowse link
G Mthfsd methenyltetrahydrofolate synthetase domain containing ISO ClinVar Annotator: match by term: Immunodeficiency 32B ClinVar PMID:28492532 NCBI chr19:49,164,266...49,178,233 JBrowse link
immunodeficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,428,334...151,450,115 JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,636,071...151,651,528 JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,216,483...151,289,069 JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,231,243...157,238,323 JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,785,009...156,787,477 JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,397,567...151,429,666 JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,197,296...151,209,458 JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr 9:2,073,927...2,076,469 JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr10:63,646,532...63,647,695 JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr20:154,630...169,655 JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr18:125,308...132,163 JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:143,531,907...143,533,201 JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,056,942...152,065,518 JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,351,897...151,355,822 JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,038,990...152,042,190 JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr18:140,848...172,330 JBrowse link
G F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:150,957,357...150,958,871 JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,317,993...157,326,640 JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,246,533...157,253,650 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,159,051...157,185,559 JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr18:128,473...138,232 JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,352,364...157,372,144 JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,238,900...157,245,562 JBrowse link
G H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:86,566,994...86,567,568 JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,154,979...151,174,441 JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,839,100...156,864,132 JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,666,573...156,675,482 JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Immunodeficiency 33
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8169255 PMID:11047757 PMID:11179023 PMID:11484156 PMID:11590134 More... NCBI chr  X:157,358,279...157,397,563 JBrowse link
G Il9r interleukin 9 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr10:15,431,706...15,444,144 JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,919,927...156,929,825 JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,597,270...151,623,776 JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,138,209...152,139,632 JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,932,481...156,995,981 JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
G Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr18:142,416...144,482 JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,807,378...156,812,632 JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,056,355...157,076,716 JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,530,390...151,560,779 JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,115,699...152,131,608 JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,645,505...156,660,011 JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,520,751...156,524,828 JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,812,785...156,821,860 JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,205,850...157,208,057 JBrowse link
G Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,154,757...152,158,563 JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,384,675...151,393,979 JBrowse link
G Spry3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr12:16,663,188...16,673,124 JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:156,661,888...156,666,537 JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,524,191...151,528,218 JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,065,539...152,076,178 JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,076,824...157,110,988 JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:157,105,455...157,138,510 JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr20:91,234...138,942 JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:151,151,862...151,153,470 JBrowse link
G Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr  X:152,151,242...152,154,094 JBrowse link
G Vamp7 vesicle-associated membrane protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868 NCBI chr12:16,728,486...16,764,261 JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 33 ClinVar PMID:25741868
immunodeficiency 36 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: IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 36 OMIM
ClinVar
PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:11135494 More... NCBI chr 2:34,612,946...34,697,660 JBrowse link
immunodeficiency 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: Immunodeficiency 37 OMIM
ClinVar
PMID:9536098 PMID:9989495 PMID:10380920 PMID:10408400 PMID:17576681 More... NCBI chr 2:237,501,181...237,510,821 JBrowse link
immunodeficiency 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h5orf58 similar to human chromosome 5 open reading frame 58 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:18,690,958...18,697,224 JBrowse link
G Dock2 dedicator of cytokinesis 2 ISO ClinVar Annotator: match by term: DOCK2 deficiency | ClinVar Annotator: match by term: Immunodeficiency 40 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26083206 More... NCBI chr10:19,331,412...19,748,987 JBrowse link
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:18,806,292...18,810,231 JBrowse link
G Gabrp gamma-aminobutyric acid type A receptor subunit pi ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:28492532 NCBI chr10:18,143,031...18,169,595 JBrowse link
G Insyn2b inhibitory synaptic factor family member 2B ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:25741868 PMID:26083206 PMID:28492532 NCBI chr10:18,916,721...19,023,859 JBrowse link
G Kcnip1 potassium voltage-gated channel interacting protein 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:28492532 NCBI chr10:18,219,519...18,588,833 JBrowse link
G Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:28492532 NCBI chr10:19,062,014...19,119,005 JBrowse link
G Lcp2 lymphocyte cytosolic protein 2 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:28492532 NCBI chr10:19,146,846...19,193,750 JBrowse link
G Mir103a1 microRNA 103a-1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:20,244,412...20,244,497 JBrowse link
G Pank3 pantothenate kinase 3 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:20,733,191...20,757,017 JBrowse link
G Rars1 arginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:20,270,744...20,295,192 JBrowse link
G Slit3 slit guidance ligand 3 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:20,075,929...20,660,704 JBrowse link
G Spdl1 spindle apparatus coiled-coil protein 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:19,269,125...19,294,213 JBrowse link
G Wwc1 WW and C2 domain containing 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr10:20,300,735...20,454,393 JBrowse link
immunodeficiency 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency ClinVar PMID:28492532 NCBI chr17:66,749,506...66,787,590 JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency ClinVar PMID:28492532 NCBI chr17:66,802,300...66,831,973 JBrowse link
G Il2ra interleukin 2 receptor subunit alpha susceptibility ISO ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:9096364 PMID:9536098 PMID:16199547 PMID:17196245 PMID:17576681 More... NCBI chr17:66,849,974...66,898,665 JBrowse link
immunodeficiency 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: Immunodeficiency 46 | ClinVar Annotator: match by term: TFRC-related combined immunodeficiency | ClinVar Annotator: match by term: TFRC-related condition OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26642240 PMID:28492532 NCBI chr11:81,668,478...81,690,318 JBrowse link
immunodeficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency | ClinVar Annotator: match by term: Immunodeficiency 48 | ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency OMIM
ClinVar
PMID:8124727 PMID:8202712 PMID:8202713 PMID:9536098 PMID:10574909 More... NCBI chr 9:46,485,605...46,507,552 JBrowse link
immunodeficiency 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11b BCL11 transcription factor B ISO ClinVar Annotator: match by term: BCL11B-related BAFopathy | ClinVar Annotator: match by term: Immunodeficiency 49 OMIM
ClinVar
PMID:25627829 PMID:25741868 PMID:27959755 PMID:28492532 PMID:29985992 More... NCBI chr 6:126,834,531...126,927,720 JBrowse link
immunodeficiency 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msn moesin ISO ClinVar Annotator: match by term: Combined immunodeficiency due to moesin deficiency | ClinVar Annotator: match by term: MSN-related condition OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:27405666 PMID:28378256 PMID:28492532 More... NCBI chr  X:60,996,043...61,064,011 JBrowse link
immunodeficiency 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Relb RELB proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Immunodeficiency 53 | ClinVar Annotator: match by term: RELB-related condition OMIM
ClinVar
PMID:25741868 PMID:26385063 PMID:28492532 NCBI chr 1:88,385,717...88,413,380 JBrowse link
immunodeficiency 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gins1 GINS complex subunit 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to GINS1 deficiency | ClinVar Annotator: match by term: GINS1-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 55 OMIM
ClinVar
PMID:25741868 PMID:28414293 PMID:28492532 PMID:31630891 NCBI chr 3:160,184,920...160,206,334 JBrowse link
immunodeficiency 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21r interleukin 21 receptor ISO ClinVar Annotator: match by term: IL21R immunodeficiency OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22235133 PMID:23440042 More... NCBI chr 1:180,168,028...180,195,690 JBrowse link
immunodeficiency 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acd ACD, shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency ClinVar PMID:25741868 NCBI chr19:33,586,739...33,589,481 JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: CARMIL2-related condition | ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency OMIM
ClinVar
PMID:16199547 PMID:25741868 PMID:27647349 PMID:27896283 PMID:28112205 More... NCBI chr19:33,571,255...33,586,783 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 8:53,602,882...53,614,998 JBrowse link
immunodeficiency 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bach2 BTB domain and CNC homolog 2 ISO ClinVar Annotator: match by term: BACH2-related condition | ClinVar Annotator: match by term: Immunodeficiency 60 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28530713 NCBI chr 5:46,632,338...46,982,676