RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: B cell deficiency
Accession: DOID:2115
browse the term
Definition: A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. (DO)
Synonyms: exact_synonym: B cell (antibody) deficiencies; immunoglobulin heavy chain deficiency; immunoglobulin heavy chain deletion
xref: ICD9CM:279.03
For additional species annotation, visit the
Alliance of Genome Resources .
G
Ighm
immunoglobulin heavy constant epsilon
IMP
RGD
PMID:21038471
RGD:150523760
Ensembl chr 6:132,329,269...133,053,426
G
Ighmem1Ang
immunoglobulin heavy constant mu; ZFN induced mutant1, Ang
IMP
RGD
PMID:21038471
RGD:150523760
G
Ighmem2Ang
immunoglobulin heavy constant mu; ZFN induced mutant2, Ang
IMP
RGD
PMID:21038471
RGD:150523760
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
Ensembl chr 3:153,531,193...153,542,851
G
Ada
adenosine deaminase
ISO ISS
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency CTD Direct Evidence: marker/mechanism OMIM:102700
OMIM ClinVar CTD MouseDO
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1401934 PMID:1680289 PMID:1696926 PMID:1925539 PMID:1974554 PMID:2166947 PMID:2651461 PMID:2758612 PMID:2773932 PMID:2783588 PMID:3007108 PMID:3182793 PMID:3366897 PMID:3475710 PMID:3684597 PMID:3839802 PMID:6208479 PMID:7554472 PMID:7599635 PMID:7691348 PMID:8023852 PMID:8031011 PMID:8051429 PMID:8120281 PMID:8178821 PMID:8227344 PMID:8258146 PMID:8299233 PMID:8401541 PMID:8433873 PMID:8589684 PMID:8614422 PMID:8673127 PMID:9108404 PMID:9225964 PMID:9361033 PMID:9414266 PMID:9536098 PMID:9616253 PMID:9758612 PMID:9806422 PMID:10200056 PMID:11067872 PMID:11157502 PMID:11160213 PMID:11313286 PMID:11354825 PMID:11807006 PMID:14499267 PMID:16199547 PMID:16276484 PMID:16825284 PMID:17001642 PMID:17181544 PMID:17185467 PMID:17576681 PMID:18952502 PMID:19179314 PMID:19665771 PMID:19830125 PMID:20039061 PMID:20544538 PMID:21228398 PMID:21410451 PMID:21624848 PMID:21664875 PMID:21865538 PMID:22409989 PMID:22447032 PMID:22764473 PMID:22968453 PMID:23260757 PMID:23348723 PMID:24033266 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25875700 PMID:25954555 PMID:26255240 PMID:26376800 PMID:26467025 PMID:27095930 PMID:27129325 PMID:27484032 PMID:27872624 PMID:28266921 PMID:28346229 PMID:28492532 PMID:28747913 PMID:29744787 PMID:30290665 PMID:30778343 PMID:30858051 PMID:31031743 PMID:31319225 PMID:31589898 PMID:31681265 PMID:31781678 PMID:31858364 PMID:32135276 PMID:32245326 PMID:32307643 PMID:32445296 PMID:32888943 PMID:33628209 PMID:33975924 PMID:34502390 PMID:34975878 PMID:36685585 More...
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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
Ensembl chr 3:152,491,220...152,502,636
G
Cd3g
CD3 gamma subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117
NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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
Ensembl chr 3:153,845,787...153,970,588
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
Ensembl chr 3:153,568,381...153,576,215
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
Ensembl chr 3:153,191,090...153,220,651
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
Ensembl chr 3:153,481,705...153,505,759
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
Ensembl chr 3:154,023,661...154,061,185
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
Ensembl chr 3:153,312,396...153,319,310
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 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858
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
Ensembl chr 3:152,110,253...152,128,711
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
Ensembl chr 3:151,735,997...151,736,863
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
Ensembl chr 3:152,186,787...152,248,320
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
Ensembl chr 3:151,672,493...151,696,980
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 PMID:11213805 PMID:11668610 PMID:11668621 PMID:14615376 PMID:17433830 PMID:17644747 PMID:19203666 PMID:21184155 PMID:23384681 PMID:25146434 PMID:25741868 PMID:28492532 PMID:30697212 PMID:30778343 PMID:32754152 PMID:33365035 PMID:34173127 PMID:35482138 More...
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904
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
Ensembl chr 3:152,515,237...152,521,455
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
Ensembl chr 3:152,835,644...152,842,960
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
Ensembl chr 3:153,120,632...153,135,865
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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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 3:151,705,254...151,733,714
Ensembl chr 3:151,705,288...151,733,708
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 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:21310275 PMID:22857948 PMID:22975586 PMID:23233322 PMID:23283745 PMID:23299917 PMID:24038877 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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
Ensembl chr 3:153,736,420...153,769,553
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
Ensembl chr 3:153,566,660...153,569,380
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
Ensembl chr 3:154,132,328...154,136,991
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
Ensembl chr 3:152,066,975...152,085,149
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 3:152,692,825...152,725,997
Ensembl chr 3:152,693,700...152,725,997
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
Ensembl chr 3:153,614,147...153,627,079
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
Ensembl chr 3:153,227,420...153,236,887
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 3:152,330,477...152,398,085
Ensembl chr 3:152,366,041...152,398,082
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
Ensembl chr 3:153,574,825...153,592,647
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
Ensembl chr 3:152,171,382...152,182,151
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 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18463379 PMID:18768869 PMID:18822103 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19912631 PMID:20956421 PMID:21664875 PMID:22424479 PMID:23085344 PMID:23122631 PMID:23891352 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24985406 PMID:25516070 PMID:25741868 PMID:25869295 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26829731 PMID:27301863 PMID:27484032 PMID:27609655 PMID:28492532 PMID:28769923 PMID:28783691 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30877075 PMID:31632441 PMID:32445296 PMID:32655540 PMID:32888943 PMID:33365035 PMID:33628209 PMID:34224223 PMID:34664192 PMID:35281013 PMID:35303369 More...
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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
Ensembl chr 3:153,134,140...153,146,513
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
Ensembl chr 3:152,524,095...152,584,780
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
Ensembl chr 3:153,154,896...153,173,580
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
Ensembl chr 3:152,910,034...152,912,882
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
Ensembl chr 3:152,301,772...152,321,808
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
Ensembl chr 3:153,696,517...153,735,765
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
Ensembl chr 3:154,141,872...154,204,606
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 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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
Ensembl chr 3:154,012,416...154,023,488
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 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
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
Ensembl chr 3:153,522,486...153,532,221
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
Ensembl chr 3:153,562,528...153,564,480
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
Ensembl chr 3:153,294,010...153,296,779
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
Ensembl chr 3:153,430,633...153,433,439
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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 3:152,745,958...152,827,747
Ensembl chr 3:152,745,681...152,827,744
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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
Ensembl chr 3:153,191,090...153,220,651
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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
Ensembl chr 3:153,513,271...153,516,029
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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 3:152,729,345...152,746,295
Ensembl chr 3:152,729,349...152,746,373
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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
Ensembl chr 3:151,853,294...151,980,749
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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 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328
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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
Ensembl chr 3:153,200,789...153,204,349
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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
Ensembl chr 3:152,278,303...152,296,513
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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 3:153,506,636...153,509,036
Ensembl chr 3:153,506,636...153,513,339
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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
Ensembl chr 3:153,390,067...153,391,420
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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
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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
Ensembl chr 3:152,862,341...152,862,690
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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
Ensembl chr 3:153,419,648...153,421,221
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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
Ensembl chr 3:153,286,131...153,292,807
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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
Ensembl chr 3:153,464,862...153,478,952
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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
Ensembl chr 3:152,849,025...152,854,904
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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
Ensembl chr 3:153,305,336...153,309,144
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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
Ensembl chr 3:153,324,413...153,339,842
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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
Ensembl chr 3:153,380,649...153,391,261
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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 3:152,659,663...152,682,105
Ensembl chr 3:152,659,651...152,682,105
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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
Ensembl chr 3:154,113,561...154,125,057
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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
Ensembl chr 3:153,627,467...153,647,054
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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
Ensembl chr 3:153,558,970...153,562,915
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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
Ensembl chr 3:153,542,743...153,558,018
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Blnk
B-cell linker
susceptibility
ISO
DNA:splice-site mutation CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10583958
RGD:1600518
NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113
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Btk
Bruton tyrosine kinase
susceptibility
ISO
DNA:insertions, point mutations ClinVar Annotator: match by term: Agammaglobulinemia CTD Direct Evidence: therapeutic
ClinVar CTD RGD
PMID:10352268 PMID:15142874 PMID:8162018
RGD:1600526
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cd19
CD19 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16672701
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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Cd79a
CD79a molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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Cd79b
CD79b molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Lrrc8a
leucine rich repeat containing 8 VRAC subunit A
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14660746
RGD:1599837
NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
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Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1
ClinVar
PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8090769 PMID:8162056 PMID:8380905 PMID:8594569 PMID:8695804 PMID:8939985 PMID:9143921 PMID:9188445 PMID:9445504 PMID:9524120 PMID:9545398 PMID:9880544 PMID:10092645 PMID:11206059 PMID:11410123 PMID:11445810 PMID:11472359 PMID:11668622 PMID:11742281 PMID:12217331 PMID:14974089 PMID:15661032 PMID:16862044 PMID:16951917 PMID:17327079 PMID:17765309 PMID:18518992 PMID:19039656 PMID:19419768 PMID:19904586 PMID:20529312 PMID:23424595 PMID:25741868 PMID:27512878 PMID:27980540 PMID:28492532 PMID:29424453 PMID:29503650 PMID:30072168 PMID:30564228 More...
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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Spi1
Spi-1 proto-oncogene
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant
OMIM ClinVar
PMID:25741868 PMID:33951726
NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
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C20h22orf15
similar to human chromosome 22 open reading frame 15
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,723,160...12,725,864
Ensembl chr20:12,723,160...12,726,059
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Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
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Derl3
derlin 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Mif
macrophage migration inhibitory factor
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mmp11
matrix metallopeptidase 11
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Vpreb3
V-set pre-B cell surrogate light chain 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:12,717,421...12,718,785
Ensembl chr20:12,716,779...12,719,520
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Cd79a
CD79a molecule
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 PMID:24481606 PMID:24728327 PMID:25741868 PMID:28492532 PMID:33046446 PMID:34060650 More...
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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Rps19
ribosomal protein S19
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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Aldh18a1
aldehyde dehydrogenase 18 family, member A1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
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Blnk
B-cell linker
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24582315 PMID:25741868 PMID:28492532 PMID:30619340 More...
NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113
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Cc2d2b
coiled-coil and C2 domain containing 2B
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,561,506...239,655,771
Ensembl chr 1:239,561,987...239,682,416
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Ccnj
cyclin J
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,659,588...239,677,367
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Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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Tctn3
tectonic family member 3
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272
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Zfp518a
zinc finger protein 518A
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive
ClinVar
PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:25741868 PMID:28492532 More...
NCBI chr 1:239,719,305...239,744,978
Ensembl chr 1:239,719,505...239,744,979
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Lrrc8a
leucine rich repeat containing 8 VRAC subunit A
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant | ClinVar Annotator: match by term: LRRC8A-related condition
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
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Cd79b
CD79b molecule
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 More...
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive
OMIM ClinVar
PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25488983 PMID:25741868 PMID:25939554 PMID:27076228 PMID:27116393 PMID:27693481 PMID:28302518 PMID:28492532 PMID:29178053 PMID:34922003 More...
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: TCF3-related condition
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34618307
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 PMID:28492532 PMID:33905048 PMID:34618307 More...
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Slc39a7
solute carrier family 39 member 7
ISO
ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30718914
NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537
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Prkcd
protein kinase C, delta
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III
OMIM ClinVar
PMID:9536098 PMID:11976687 PMID:16199547 PMID:17576681 PMID:23319571 PMID:23430113 PMID:23666743 PMID:24033266 PMID:25741868 PMID:26546672 PMID:28492532 PMID:30257684 PMID:34264265 More...
NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
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Rft1
RFT1 homolog
ISO
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III
ClinVar
PMID:11976687 PMID:23319571 PMID:23430113 PMID:28492532
NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120
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Tnfrsf11a
TNF receptor superfamily member 11A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7
OMIM CTD ClinVar
PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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Top2b
DNA topoisomerase II beta
ISO
ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | ClinVar Annotator: match by term: TOP2B-related condition
OMIM ClinVar
PMID:9536098 PMID:11152140 PMID:11476068 PMID:15521984 PMID:17576681 PMID:21204224 PMID:22002929 PMID:25741868 PMID:28492532 PMID:31409799 PMID:32128574 PMID:33459963 More...
NCBI chr15:9,051,340...9,111,721
Ensembl chr15:9,051,341...9,112,085
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Cd40
CD40 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM
ClinVar
PMID:25741868
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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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 PMID:17553565 PMID:15358621 PMID:16508335 More...
RGD:5490298 , RGD:5490298 , RGD:11039457 , RGD:8547781 , RGD:8547779
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Acadvl
acyl-CoA dehydrogenase, very long chain
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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Acap1
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472
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Alox12
arachidonate 12-lipoxygenase, 12S type
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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Alox15b
arachidonate 15-lipoxygenase, type B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
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Aloxe3
arachidonate lipoxygenase 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Asgr1
asialoglycoprotein receptor 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631
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Asgr2
asialoglycoprotein receptor 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617
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Atp1b2
ATPase Na+/K+ transporting subunit beta 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
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Aurkb
aurora kinase B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
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Bcl6b
BCL6B, transcription repressor
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974
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Borcs6
BLOC-1 related complex subunit 6
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:11472359 PMID:18241230 PMID:25741868 PMID:28492532
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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C10h17orf49
similar to human chromosome 17 open reading frame 49
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601
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Cd19
CD19 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16672701
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:9150729 PMID:9746782 PMID:15358621 PMID:25741868
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd68
Cd68 molecule
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cd81
Cd81 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
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Chd3
chromodomain helicase DNA binding protein 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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Chrnb1
cholinergic receptor nicotinic beta 1 subunit
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
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Cldn7
claudin 7
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
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Clec10a
C-type lectin domain containing 10A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435
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Cntrob
centrobin, centriole duplication and spindle assembly protein
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
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Cr2
complement C3d receptor 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
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Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Ctdnep1
CTD nuclear envelope phosphatase 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781
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Cyb5d1
cytochrome b5 domain containing 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911
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Dclre1c
DNA cross-link repair 1C
ISO
DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human)
RGD
PMID:26476407
RGD:11251730
NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
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Dlg4
discs large MAGUK scaffold protein 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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Dnah2
dynein, axonemal, heavy chain 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
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Dvl2
dishevelled segment polarity protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
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Efnb3
ephrin B3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471
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Eif4a1
eukaryotic translation initiation factor 4A1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,384,345...54,389,855
Ensembl chr10:54,384,347...54,389,858
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Eif5a
eukaryotic translation initiation factor 5A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
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Elp5
elongator acetyltransferase complex subunit 5
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923
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Fbxo39
F-box protein 39
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906
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Fcgr2a
Fc gamma receptor 2A
ISO
protein:decreased expression:blood, monocyte
RGD
PMID:17900300
RGD:5147988
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
G
Fgf11
fibroblast growth factor 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062
G
Fxr2
FMR1 autosomal homolog 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,350,577...54,370,964
Ensembl chr10:54,350,131...54,370,964
G
Gabarap
GABA type A receptor-associated protein
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765
G
Gps2
G protein pathway suppressor 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650
G
Gucy2e
guanylate cyclase 2E
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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Hes7
hes family bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
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Icos
inducible T-cell co-stimulator
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: Common variable agammaglobulinemia
ClinVar
PMID:11590134 PMID:15229184 PMID:20529958 PMID:25741868 PMID:28993958
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
G
Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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Il21
interleukin 21
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: IL21 DEFICIENCY
CTD ClinVar
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
G
Il21r
interleukin 21 receptor
ISO
DNA:SNPs:exons:
RGD
PMID:18254984
RGD:6892941
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
G
Kcnab3
potassium voltage-gated channel subfamily A regulatory beta subunit 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174
G
Kctd11
potassium channel tetramerization domain containing 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760
G
Kdm6b
lysine demethylase 6B
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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Manba
mannosidase beta
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:25741868
NCBI chr 2:223,910,432...224,002,988
Ensembl chr 2:223,910,432...224,002,983
G
Mbl2
mannose binding lectin 2
ISO
DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human)
RGD
PMID:10652157
RGD:4889436
NCBI chr 1:228,016,439...228,024,736
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Mir195
microRNA 195
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
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Mpdu1
mannose-P-dolichol utilization defect 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
G
Ms4a1
membrane spanning 4-domains A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
G
Naa38
N(alpha)-acetyltransferase 38, NatC auxiliary subunit
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
G
Neurl4
neuralized E3 ubiquitin protein ligase 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258
G
Nfkb1
nuclear factor kappa B subunit 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common variable immunodeficiency
CTD ClinVar
PMID:16199547 PMID:25741868 PMID:26279205 PMID:28492532 PMID:29477724 PMID:32278790 PMID:32499645 PMID:32581362 PMID:32918165 More...
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
G
Nfkb2
nuclear factor kappa B subunit 2
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common variable immunodeficiency
CTD ClinVar MouseDO
PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28492532 PMID:28778864 PMID:29225085 PMID:30941118 More...
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
G
Nlgn2
neuroligin 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,544,461...54,557,854
Ensembl chr10:54,544,588...54,558,434
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:T cell (human)
RGD
PMID:22697005
RGD:6771226
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Per1
period circadian regulator 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
G
Phf23
PHD finger protein 23
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,718,663...54,722,784
Ensembl chr10:54,717,724...54,722,782
G
Plscr3
phospholipid scramblase 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709
G
Polr2a
RNA polymerase II subunit A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
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Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 PMID:26457731 PMID:26996199 PMID:28492532 PMID:29772310 PMID:31334206 PMID:31388879 PMID:32581362 PMID:32655540 More...
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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Rnasek
ribonuclease K
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,954,904...54,956,622
Ensembl chr10:54,951,991...54,956,601
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms (human)
RGD
PMID:10361244
RGD:5147864
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
Sat2
spermidine/spermine N1-acetyltransferase family member 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,340,756...54,343,507
Ensembl chr10:54,340,372...54,343,224
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Senp3
SUMO specific peptidase 3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593
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Shbg
sex hormone binding globulin
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
G
Slc13a5
solute carrier family 13 member 5
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
G
Slc16a11
solute carrier family 16, member 11
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915
G
Slc16a13
solute carrier family 16, member 13
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788
G
Slc2a4
solute carrier family 2 member 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
G
Slc35g3
solute carrier family 35, member G3
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,478,796...54,481,543
Ensembl chr10:54,479,770...54,481,748
G
Sox15
SRY-box transcription factor 15
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,373,045...54,374,749
Ensembl chr10:54,372,403...54,376,591
G
Spem1
spermatid maturation 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131
G
Spem2
SPEM family member 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058
G
Tekt1
tektin 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572
G
Tmem102
transmembrane protein 102
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,523,901...54,525,997
Ensembl chr10:54,523,585...54,525,990
G
Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
G
Tmem256
transmembrane protein 256
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
G
Tmem88
transmembrane protein 88
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447
G
Tmem95
transmembrane protein 95
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790
G
Tnfrsf13b
TNF receptor superfamily member 13B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset
CTD ClinVar
PMID:8072530 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 PMID:16630947 PMID:16782407 PMID:16899196 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17464555 PMID:17492055 PMID:17556024 PMID:17697196 PMID:17947292 PMID:17983875 PMID:18200502 PMID:18954329 PMID:18978466 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20156508 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21675890 PMID:21724465 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29077208 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30090215 PMID:30290665 PMID:30665703 PMID:30723478 PMID:30739909 PMID:31203817 PMID:31530980 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33046446 PMID:33258288 PMID:33726816 PMID:34093558 PMID:34426522 PMID:34975878 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Tnfrsf13c
TNF receptor superfamily member 13C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive
CTD ClinVar
PMID:28492532
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
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Tnfsf12
TNF superfamily member 12
ISO
ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532
NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213
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Tnfsf13
TNF superfamily member 13
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
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Tnk1
tyrosine kinase, non-receptor, 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Trappc1
trafficking protein particle complex subunit 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331
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Ttc7a
tetratricopeptide repeat domain 7A
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32499645 PMID:32581362 More...
NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892
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Vamp2
vesicle-associated membrane protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
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Wrap53
WD repeat containing, antisense to TP53
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Xaf1
XIAP associated factor 1
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770
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Ybx2
Y box binding protein 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371
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Zbtb4
zinc finger and BTB domain containing 4
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency
ClinVar
PMID:28492532
NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492
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Abi2
abl-interactor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699
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Als2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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C2cd6
C2 calcium dependent domain containing 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806
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Carf
calcium responsive transcription factor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
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Casp8
caspase 8
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cdk15
cyclin-dependent kinase 15
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp20a1
cytochrome P450, family 20, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
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Fam117b
family with sequence similarity 117, member B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483
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Flacc1
flagellum associated containing coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
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Fzd7
frizzled class receptor 7
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
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Ica1l
islet cell autoantigen 1-like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
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Icos
inducible T-cell co-stimulator
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
OMIM ClinVar
PMID:9536098 PMID:11343122 PMID:11956294 PMID:12353035 PMID:12577056 PMID:15507387 PMID:16199547 PMID:17576681 PMID:19380800 PMID:20817864 PMID:24033266 PMID:25213377 PMID:25329329 PMID:25741868 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 PMID:31858365 PMID:32499645 More...
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Mpp4
MAGUK p55 scaffold protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
G
Nbeal1
neurobeachin-like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
G
Ndufb3
NADH:ubiquinone oxidoreductase subunit B3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
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Nfkb2
nuclear factor kappa B subunit 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:24140114 PMID:28492532
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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Nop58
NOP58 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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Raph1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
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Stradb
STE20 related adaptor beta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
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Sumo1
small ubiquitin-like modifier 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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Tmem237
transmembrane protein 237
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25569260 PMID:25741868 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Trak2
trafficking kinesin protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
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Wdr12
WD repeat domain 12
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1
ClinVar
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469
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Nfkb2
nuclear factor kappa B subunit 2
ISO
ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16303288 PMID:17576681 PMID:22013103 PMID:24033266 PMID:24140114 PMID:24702956 PMID:24888602 PMID:25237204 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28492532 PMID:28778864 PMID:29225085 PMID:29921932 PMID:30697212 PMID:30941118 PMID:31417880 PMID:32506361 PMID:32888943 PMID:34619682 PMID:34975878 PMID:36703223 More...
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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Stim1
stromal interaction molecule 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 10
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
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Il21
interleukin 21
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 11
OMIM ClinVar
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Nfkb1
nuclear factor kappa B subunit 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 | ClinVar Annotator: match by term: NFKB1-related condition
OMIM ClinVar
PMID:9383370 PMID:11583829 PMID:16199547 PMID:16639407 PMID:25741868 PMID:26279205 PMID:27365489 PMID:28492532 PMID:29077208 PMID:29477724 PMID:31803180 PMID:32278790 PMID:32499645 PMID:32581362 PMID:32918165 PMID:34447408 PMID:36105815 More...
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nfkbid
NFKB inhibitor delta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 12
ClinVar
NCBI chr 1:85,679,353...85,690,415
Ensembl chr 1:85,680,861...85,690,447
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Ikzf1
IKAROS family zinc finger 1
ISO
ClinVar Annotator: match by term: IKZF1-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 13
OMIM ClinVar
PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:27993330 PMID:28096536 PMID:28492532 PMID:28927821 PMID:29889099 PMID:30940614 PMID:31057532 PMID:31089937 PMID:34329649 PMID:35566429 More...
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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Arid4b
AT-rich interaction domain 4B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:51,138,419...51,262,894
Ensembl chr17:51,138,535...51,262,906
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B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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Coa6
cytochrome c oxidase assembly factor 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407
G
Ggps1
geranylgeranyl diphosphate synthase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
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Gng4
G protein subunit gamma 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254
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Irf2bp2
interferon regulatory factor 2 binding protein 2
ISO
ClinVar Annotator: match by term: IRF2BP2-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:27016798 PMID:28492532 PMID:35538558
NCBI chr19:54,559,417...54,565,096
Ensembl chr19:54,560,128...54,566,642
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Kcnk1
potassium two pore domain channel subfamily K member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:53,959,411...53,997,726
Ensembl chr19:53,959,657...53,997,724
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LOC120098679
small nucleolar RNA SNORA14
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,934,225...54,934,358
Ensembl chr19:54,934,225...54,934,358
G
Lyst
lysosomal trafficking regulator
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
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Nid1
nidogen 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:86,085,133...86,158,272
Ensembl chr17:86,085,077...86,158,267
G
Rbm34
RNA binding motif protein 34
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,936,516...54,956,810
Ensembl chr19:54,936,531...54,956,715
G
Slc35f3
solute carrier family 35, member F3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,102,811...54,371,765
Ensembl chr19:54,103,120...54,372,839
G
Tarbp1
TAR (HIV-1) RNA binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,398,268...54,449,293
Ensembl chr19:54,398,253...54,449,261
G
Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
G
Tomm20
translocase of outer mitochondrial membrane 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14
ClinVar
NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198
G
Ruvbl1
RuvB-like AAA ATPase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 15
ClinVar
PMID:28782633
NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384
G
Sec61a1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 15
OMIM ClinVar
PMID:25741868 PMID:28782633
NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
G
Aldh3a2
aldehyde dehydrogenase 3 family, member A2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
G
Alkbh5
alkB homolog 5, RNA demethylase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
G
Atpaf2
ATP synthase mitochondrial F1 complex assembly factor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026
G
B9d1
B9 domain containing 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
G
Cd19
CD19 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
G
Cops3
COP9 signalosome subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597
G
Cr2
complement C3d receptor 2
ISO
ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
G
Drc3
dynein regulatory complex subunit 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369
G
Drg2
developmentally regulated GTP binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,255,512...45,269,971
Ensembl chr10:45,255,507...45,269,969
G
Epn2
epsin 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642
G
Fam83g
family with sequence similarity 83, member G
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
G
Fbxw10
F-box and WD repeat domain containing 10
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907
G
Flcn
folliculin
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
G
Flii
FLII, actin remodeling protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
G
Gid4
GID complex subunit 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,221,556...45,247,627
Ensembl chr10:45,245,754...45,247,621 Ensembl chr10:45,245,754...45,247,621
G
Grap
GRB2-related adaptor protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
G
Llgl1
LLGL scribble cell polarity complex component 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094
G
Mapk7
mitogen-activated protein kinase 7
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
G
Med9
mediator complex subunit 9
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464
G
Mfap4
microfibril associated protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155
G
Mief2
mitochondrial elongation factor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144
G
Mprip
myosin phosphatase Rho interacting protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,453,949...44,573,843
Ensembl chr10:44,453,929...44,569,118
G
Myo15a
myosin XVA
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
G
Nt5m
5',3'-nucleotidase, mitochondrial
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150
G
Pemt
phosphatidylethanolamine N-methyltransferase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
G
Pld6
phospholipase D family, member 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,578,536...44,581,187
Ensembl chr10:44,577,675...44,581,077
G
Prpsap2
phosphoribosyl pyrophosphate synthetase-associated protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849
G
Rai1
retinoic acid induced 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
G
Rasd1
ras related dexamethasone induced 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186
G
Rnf112
ring finger protein 112
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699
G
Shmt1
serine hydroxymethyltransferase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820
G
Slc47a1
solute carrier family 47 member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637
G
Slc5a10
solute carrier family 5 member 10
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:46,352,060...46,400,795
Ensembl chr10:46,352,061...46,399,811
G
Smcr8
SMCR8-C9orf72 complex subunit
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876
G
Srebf1
sterol regulatory element binding transcription factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
G
Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
OMIM ClinVar
PMID:8072530 PMID:9536098 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 PMID:16618819 PMID:16630947 PMID:16782407 PMID:16899196 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17464555 PMID:17492055 PMID:17556024 PMID:17576681 PMID:17697196 PMID:17947292 PMID:17983875 PMID:18200502 PMID:18954329 PMID:18978466 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20156508 PMID:20652909 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21675890 PMID:21724465 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22922270 PMID:22983507 PMID:23225259 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25205549 PMID:25326637 PMID:25569260 PMID:25640679 PMID:25741868 PMID:25959671 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29077208 PMID:29114388 PMID:29146883 PMID:29531467 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30090215 PMID:30290665 PMID:30301590 PMID:30665703 PMID:30723478 PMID:30739909 PMID:30993493 PMID:31203817 PMID:31530980 PMID:31618753 PMID:31681265 PMID:32135276 PMID:32185379 PMID:32499645 PMID:32581362 PMID:33046446 PMID:33258288 PMID:33425813 PMID:33726816 PMID:33859323 PMID:34093558 PMID:34426522 PMID:34441032 PMID:34573280 PMID:34975878 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
G
Tnfrsf13c
TNF receptor superfamily member 13C
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
G
Tom1l2
target of myb1 like 2 membrane trafficking protein
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032
G
Top3a
DNA topoisomerase III alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
G
Tvp23b
trans-golgi network vesicle protein 23 homolog B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2
ClinVar
PMID:28492532
NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203
G
Cd19
CD19 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 3
OMIM ClinVar
PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 PMID:25741868 PMID:28492532 PMID:34490048 More...
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
G
A4galt
alpha 1,4-galactosyltransferase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
G
Aco2
aconitase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
G
Ccdc134
coiled-coil domain containing 134
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,644,557...113,659,050
Ensembl chr 7:113,644,639...113,659,050
G
Cenpm
centromere protein M
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,748,026...113,759,296
Ensembl chr 7:113,747,516...113,764,258
G
Chadl
chondroadherin-like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272
G
Csdc2
cold shock domain containing C2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,451,998...113,466,464
Ensembl chr 7:113,451,998...113,466,463
G
Cyb5r3
cytochrome b5 reductase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,306,686...114,324,247
Ensembl chr 7:114,306,685...114,324,298
G
Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
G
Desi1
desumoylating isopeptidase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,519,974...113,542,834
Ensembl chr 7:113,519,980...113,542,845
G
Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
G
L3mbtl2
L3MBTL histone methyl-lysine binding protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489
G
Mei1
meiotic double-stranded break formation protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511
G
Mir33
microRNA 33
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,713,855...113,713,923
Ensembl chr 7:113,713,855...113,713,923
G
Naga
alpha-N-acetylgalactosaminidase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
G
Ndufa6
NADH:ubiquinone oxidoreductase subunit A6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239
G
Nfam1
NFAT activating protein with ITAM motif 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,139,318...114,175,395
Ensembl chr 7:114,139,345...114,175,442
G
Pheta2
PH domain containing endocytic trafficking adaptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,855,437...113,861,910
Ensembl chr 7:113,857,249...113,861,871
G
Phf5a
PHD finger protein 5A
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,378,469...113,385,035
Ensembl chr 7:113,378,471...113,385,460
G
Pmm1
phosphomannomutase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,466,632...113,477,004
Ensembl chr 7:113,466,632...113,477,022
G
Poldip3
DNA polymerase delta interacting protein 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,274,845...114,303,278
Ensembl chr 7:114,275,085...114,303,271
G
Polr3h
RNA polymerase III subunit H
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
G
Rangap1
RAN GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
G
Rbx1
ring-box 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051
G
Rrp7a
ribosomal RNA processing 7 homolog A
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,262,929...114,272,817
Ensembl chr 7:114,256,472...114,272,817
G
Septin3
septin 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,783,217...113,811,089
Ensembl chr 7:113,783,095...113,811,087
G
Serhl2
serine hydrolase-like 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:114,246,035...114,266,298
Ensembl chr 7:114,246,056...114,272,781
G
Shisa8
shisa family member 8
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,722,408...113,727,858
Ensembl chr 7:113,722,408...113,727,858
G
Smdt1
single-pass membrane protein with aspartate-rich tail 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,862,162...113,865,245
Ensembl chr 7:113,860,611...113,865,226
G
Smim45
small integral membrane protein 45
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,769,175...113,773,952
Ensembl chr 7:113,765,468...113,773,339
G
Snu13
small nuclear ribonucleoprotein 13
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,565,293...113,570,887
Ensembl chr 7:113,565,295...113,570,872 Ensembl chr 1:113,565,295...113,570,872
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Srebf2
sterol regulatory element binding transcription factor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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Tcf20
transcription factor 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839
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Tef
TEF transcription factor, PAR bZIP family member
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,317,191...113,341,783
Ensembl chr 7:113,317,283...113,341,783
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Tnfrsf13c
TNF receptor superfamily member 13C
ISO
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:19666484 PMID:21041452 PMID:25741868 PMID:28492532 More...
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
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Tob2
transducer of ERBB2, 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,362,703...113,371,423
Ensembl chr 7:113,361,148...113,372,688
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Wbp2nl
WBP2 N-terminal like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,814,793...113,831,974
Ensembl chr 7:113,814,992...113,831,333
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Xpnpep3
X-prolyl aminopeptidase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:28492532
NCBI chr 7:112,926,154...112,978,793
Ensembl chr 7:112,926,248...112,974,878
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Xrcc6
X-ray repair cross complementing 6
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762
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Zc3h7b
zinc finger CCCH-type containing 7B
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4
ClinVar
PMID:19666484 PMID:28492532
NCBI chr 7:113,262,142...113,310,399
Ensembl chr 7:113,262,165...113,310,399
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Ms4a1
membrane spanning 4-domains A1
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 5
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
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Cd81
Cd81 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 6
OMIM ClinVar
PMID:20237408 PMID:25741868 PMID:28492532
NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
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C13h1orf116
similar to human chromosome 1 open reading frame 116
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,187,442...42,201,432
Ensembl chr13:42,188,609...42,201,426
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C4bpa
complement component 4 binding protein, alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,075,715...42,111,205
Ensembl chr13:42,075,717...42,111,205
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C4bpb
complement component 4 binding protein, beta
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,120,798...42,131,515
Ensembl chr13:42,120,798...42,131,817
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Cd34
CD34 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,480,313...106,500,844
Ensembl chr13:106,480,043...106,499,832
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Cd46
CD46 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cd55
CD55 molecule (Cromer blood group)
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831
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Cr1l
complement C3b/C4b receptor 1 like
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,606,952...106,660,442
Ensembl chr13:106,574,858...106,660,445
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Cr2
complement C3d receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24033266 PMID:25741868 PMID:26193622 PMID:26325596 PMID:28492532 PMID:28499783 PMID:29148534 PMID:29867916 PMID:30075290 PMID:33046446 PMID:34426522 More...
NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
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Fcamr
Fc alpha and mu receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,273,891...42,288,002
Ensembl chr13:42,273,628...42,287,113
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Fcmr
Fc mu receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,337,363...42,351,706
Ensembl chr13:42,337,414...42,351,653
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Il10
interleukin 10
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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Il20
interleukin 20
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
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Il24
interleukin 24
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,353,089...42,358,487
Ensembl chr13:42,353,090...42,358,487
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Pfkfb2
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,147,473...42,174,699
Ensembl chr13:42,147,478...42,174,699
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Pigr
polymeric immunoglobulin receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,298,905...42,326,877
Ensembl chr13:42,298,914...42,326,875
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Plxna2
plexin A2
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:106,163,103...106,358,979
Ensembl chr13:106,163,103...106,358,979
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Yod1
YOD1 deubiquitinase
ISO
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7
ClinVar
PMID:28492532
NCBI chr13:42,175,047...42,181,661
Ensembl chr13:42,174,820...42,177,205
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Lrba
LPS responsive beige-like anchor protein
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608502 PMID:22721650 PMID:24033266 PMID:25468195 PMID:25640679 PMID:25741868 PMID:25931386 PMID:26122175 PMID:26206937 PMID:26768763 PMID:27379089 PMID:28197149 PMID:28473463 PMID:28492532 PMID:28720148 PMID:28956255 PMID:29867916 PMID:30363934 PMID:31432443 PMID:31876783 PMID:31887391 PMID:32084423 PMID:32135276 PMID:32154999 PMID:32499645 PMID:32531373 PMID:32707200 PMID:33225392 PMID:33359885 PMID:33481921 PMID:33717114 PMID:33864888 PMID:33942430 PMID:34093558 PMID:34573280 PMID:36074705 More...
NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
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Mab21l2
mab-21 like 2
ISO
ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity
ClinVar
PMID:25640679 PMID:26206937 PMID:26768763 PMID:28492532
NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655
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Cd40lg
CD40 ligand
ISO
Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230
RGD
PMID:7678782
RGD:1599480
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Igkc
immunoglobulin kappa constant
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3931219
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Ung
uracil-DNA glycosylase
ISO
Hyper-IgM syndrome 5, OMIM:608106
RGD
PMID:12958596
RGD:1599705
NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
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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:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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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:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 PMID:16333836 More...
RGD:12791265
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Cavin1
caveolae associated protein 1
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar
PMID:28492532
NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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Il4r
interleukin 4 receptor
no_association
ISO
DNA:mutation:cds:p.Q576R(human)
RGD
PMID:9537881
RGD:11530003
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6st
interleukin 6 cytokine family signal transducer
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar
PMID:25741868 PMID:32207811
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Stat3
signal transducer and activator of transcription 3
ISO ISS
OMIM:147060 ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: Job syndrome CTD Direct Evidence: marker/mechanism
MouseDO ClinVar CTD OMIM RGD
PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 PMID:17881745 PMID:17942886 PMID:18591410 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:19348930 PMID:19577286 PMID:20032313 PMID:20048285 PMID:20093388 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21107604 PMID:21288777 PMID:21300911 PMID:21324546 PMID:21690253 PMID:21792878 PMID:22030463 PMID:22084479 PMID:22126402 PMID:22533245 PMID:22581330 PMID:22591296 PMID:22751495 PMID:22859607 PMID:23342295 PMID:23584561 PMID:23584591 PMID:23659370 PMID:23830147 PMID:23926297 PMID:24033266 PMID:24260974 PMID:24350896 PMID:24452316 PMID:24628715 PMID:24797340 PMID:24837465 PMID:24995504 PMID:25038750 PMID:25349174 PMID:25359994 PMID:25543043 PMID:25586472 PMID:25640679 PMID:25739182 PMID:25741868 PMID:25873174 PMID:25962528 PMID:26384563 PMID:26702067 PMID:26743515 PMID:27091139 PMID:27198716 PMID:27226025 PMID:27302695 PMID:27315770 PMID:27345172 PMID:27379089 PMID:27799162 PMID:27884935 PMID:27980540 PMID:28062691 PMID:28098554 PMID:28197791 PMID:28253502 PMID:28315006 PMID:28356514 PMID:28359783 PMID:28424246 PMID:28492532 PMID:28579554 PMID:28587312 PMID:28628107 PMID:28667753 PMID:28977911 PMID:29077208 PMID:29162862 PMID:29180260 PMID:29296824 PMID:29330115 PMID:29378236 PMID:29803798 PMID:29868029 PMID:29931222 PMID:30092289 PMID:30443250 PMID:30617622 PMID:30910759 PMID:30940614 PMID:31002364 PMID:31069200 PMID:31278738 PMID:31558678 PMID:31596517 PMID:31717342 PMID:31737384 PMID:31770611 PMID:31771617 PMID:31774495 PMID:32047491 PMID:32135276 PMID:32188095 PMID:32231398 PMID:32248557 PMID:32273478 PMID:32499645 PMID:32531373 PMID:32768442 PMID:32888943 PMID:32901917 PMID:32915432 PMID:32944025 PMID:33003453 PMID:33060403 PMID:33225311 PMID:33343952 PMID:33365035 PMID:33579790 PMID:33717144 PMID:34060650 PMID:34075200 PMID:34134972 PMID:34137790 PMID:34366294 PMID:34390446 PMID:34619682 PMID:34796988 PMID:35882439 PMID:36240433 PMID:37081481 PMID:17676033 More...
RGD:6892956
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat5a
signal transducer and activator of transcription 5A
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar
PMID:28492532
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
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Stat5b
signal transducer and activator of transcription 5B
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar
PMID:28492532
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
ClinVar
PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 PMID:28492532 More...
NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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Dock8
dedicator of cytokinesis 8
ISO
ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS DNA:mutation:cds:
OMIM ClinVar RGD
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 PMID:18060736 PMID:19776401 PMID:20004785 PMID:20226292 PMID:20622910 PMID:21324546 PMID:22006977 PMID:22476911 PMID:22534316 PMID:23380217 PMID:23859592 PMID:24033266 PMID:24418481 PMID:24673638 PMID:24797421 PMID:25167861 PMID:25640679 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26467025 PMID:26573532 PMID:26659092 PMID:26680607 PMID:26744459 PMID:27379089 PMID:27398204 PMID:27457812 PMID:27872624 PMID:27890707 PMID:27980540 PMID:28070732 PMID:28191889 PMID:28492532 PMID:28750028 PMID:29058101 PMID:29483666 PMID:29867916 PMID:30425284 PMID:30564305 PMID:30697212 PMID:31242861 PMID:31596517 PMID:31980526 PMID:32108967 PMID:32135276 PMID:32531373 PMID:32888943 PMID:33251169 PMID:33290277 PMID:33587123 PMID:33809641 PMID:34093558 PMID:34662886 PMID:35753512 PMID:37592284 PMID:21763205 More...
RGD:40907054
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Kank1
KN motif and ankyrin repeat domains 1
ISO
ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
ClinVar
PMID:28492532
NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
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Zng1a
Zn regulated GTPase metalloprotein activator 1A
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
ClinVar
PMID:33290277
NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629
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Zfp341
zinc finger protein 341
ISO
ClinVar Annotator: match by term: HYPER-IgE SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691
NCBI chr 3:143,122,699...143,156,250
Ensembl chr 3:143,119,093...143,156,249
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Il6st
interleukin 6 cytokine family signal transducer
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28747427 PMID:30309848 PMID:32207811 PMID:33771552 More...
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar
PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 PMID:28492532 More...
NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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Dmrt1
doublesex and mab-3 related transcription factor 1
ISO
ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome
ClinVar
PMID:28492532
NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
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Dock8
dedicator of cytokinesis 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome
CTD ClinVar
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 PMID:18060736 PMID:19776401 PMID:20004785 PMID:20226292 PMID:20622910 PMID:22006977 PMID:22476911 PMID:22534316 PMID:23380217 PMID:23859592 PMID:24033266 PMID:24418481 PMID:24673638 PMID:24797421 PMID:25167861 PMID:25640679 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26235511 PMID:26467025 PMID:26659092 PMID:26680607 PMID:26744459 PMID:27379089 PMID:27457812 PMID:27872624 PMID:27890707 PMID:27980540 PMID:28070732 PMID:28191889 PMID:28492532 PMID:28750028 PMID:28890024 PMID:29058101 PMID:29483666 PMID:29867916 PMID:30425284 PMID:30564305 PMID:30697212 PMID:31242861 PMID:31596517 PMID:31980526 PMID:32108967 PMID:32135276 PMID:32531373 PMID:32888943 PMID:33251169 PMID:33290277 PMID:33587123 PMID:33809641 PMID:34093558 PMID:34662886 PMID:35753512 PMID:37592284 More...
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Dop1a
DOP1 leucine zipper like protein A
ISO
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
PMID:24698316
NCBI chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16112032
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Kank1
KN motif and ankyrin repeat domains 1
ISO
ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar
PMID:28492532
NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
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Pgm3
phosphoglucomutase 3
ISO
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
PMID:3500672 PMID:24698316
NCBI chr 8:87,518,317...87,536,021
Ensembl chr 8:87,517,701...87,536,022
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyper-IgE syndrome
CTD ClinVar
PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:20032313 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21792878 PMID:22751495 PMID:24033266 PMID:25038750 PMID:25741868 PMID:26384563 PMID:27226025 PMID:27799162 PMID:27980540 PMID:28098554 PMID:28315006 PMID:28492532 PMID:29077208 PMID:29868029 More...
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Zng1a
Zn regulated GTPase metalloprotein activator 1A
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar
PMID:33290277
NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629
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Aicda
activation-induced cytidine deaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Cd40
CD40 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Ung
uracil-DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
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Il6r
interleukin 6 receptor
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive
OMIM ClinVar
PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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Stat6
signal transducer and activator of transcription 6
ISO
ClinVar Annotator: match by term: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
OMIM ClinVar
PMID:36884218 PMID:37316763
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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Aicda
activation-induced cytidine deaminase
susceptibility onset
ISO
DNA:splice-site mutation:intron:IVS2+1G>T (human) DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human) DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)
RGD
PMID:11007475 PMID:15372234 PMID:11112359 PMID:17553565
RGD:1598906 , RGD:11039485 , RGD:11039483 , RGD:11039457
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Cd40
CD40 molecule
ISO
DNA:mutations:exons (human)
RGD
PMID:11675497
RGD:1599479
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Mmab
metabolism of cobalamin associated B
ISO
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type
ClinVar
PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
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Mvk
mevalonate kinase
ISO
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type
OMIM ClinVar
PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313768 PMID:11313769 PMID:12387810 PMID:12444096 PMID:12563048 PMID:12634869 PMID:13130485 PMID:15149516 PMID:15188372 PMID:15536479 PMID:15804303 PMID:16197847 PMID:16199547 PMID:16234278 PMID:16255052 PMID:16435210 PMID:16707534 PMID:16835861 PMID:17105862 PMID:17171314 PMID:17576681 PMID:18414213 PMID:18839211 PMID:18941711 PMID:19011501 PMID:19120372 PMID:19786432 PMID:19877056 PMID:20194276 PMID:21225694 PMID:21228398 PMID:21399979 PMID:21425920 PMID:21478439 PMID:21548022 PMID:21708801 PMID:22038276 PMID:22246419 PMID:22566169 PMID:22983302 PMID:23006543 PMID:23146290 PMID:23692791 PMID:23707710 PMID:23834120 PMID:23979089 PMID:23998246 PMID:24033266 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24531851 PMID:24561416 PMID:24656624 PMID:25149390 PMID:25502423 PMID:25677409 PMID:25708585 PMID:25721923 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26202976 PMID:26299986 PMID:26386126 PMID:26409462 PMID:26633545 PMID:26935981 PMID:26977311 PMID:26986117 PMID:26990548 PMID:27012807 PMID:27142780 PMID:27213830 PMID:28095071 PMID:28359055 PMID:28492532 PMID:28501347 PMID:28638818 PMID:28814775 PMID:29047407 PMID:29290516 PMID:29599418 PMID:31096039 PMID:31278138 PMID:31430439 PMID:31474985 PMID:31664448 PMID:32060250 PMID:32822427 PMID:33168400 PMID:33917151 PMID:34145613 PMID:34525209 PMID:34809655 PMID:35387795 PMID:35525811 More...
NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
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Oas1a
2'-5' oligoadenylate synthetase 1A
ISO
ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia
OMIM ClinVar
PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 PMID:34145065 More...
NCBI chr12:35,669,798...35,680,505
Ensembl chr12:35,669,801...35,680,517
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Ap1m2
adaptor related protein complex 1 subunit mu 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,838,579...19,856,560
Ensembl chr 8:19,838,580...19,856,482
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Atg4d
autophagy related 4D, cysteine peptidase
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,807,733...19,817,321
Ensembl chr 8:19,807,766...19,817,321
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Cdc37
cell division cycle 37, HSP90 cochaperone
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,677,400...19,690,761
Ensembl chr 8:19,671,938...19,690,809
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Cdkn2d
cyclin dependent kinase inhibitor 2D
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,831,874...19,834,640
Ensembl chr 8:19,831,866...19,834,674
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Dnm2
dynamin 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
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Dnmt1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Fdx2
ferredoxin 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849
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Icam1
intercellular adhesion molecule 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Icam4
intercellular adhesion molecule 4, Landsteiner-Wiener blood group
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,566,075...19,567,171
Ensembl chr 8:19,566,075...19,567,171
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Icam5
intercellular adhesion molecule 5
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,567,390...19,575,588
Ensembl chr 8:19,568,600...19,575,588
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Ilf3
interleukin enhancer binding factor 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,922,409...19,960,495
Ensembl chr 8:19,922,460...19,960,350
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Keap1
Kelch-like ECH-associated protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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Kri1
KRI1 homolog
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,817,005...19,831,516
Ensembl chr 8:19,817,017...19,831,392
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Mrpl4
mitochondrial ribosomal protein L4
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,539,593...19,545,608
Ensembl chr 8:19,539,593...19,545,608
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Pde4a
phosphodiesterase 4A
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,690,816...19,753,538
Ensembl chr 8:19,703,290...19,751,961
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Qtrt1
queuine tRNA-ribosyltransferase catalytic subunit 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,965,801...19,973,843
Ensembl chr 8:19,966,336...19,973,837
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Raver1
ribonucleoprotein, PTB-binding 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,610,464...19,629,188
Ensembl chr 8:19,610,466...19,629,152
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S1pr2
sphingosine-1-phosphate receptor 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,503,276...19,514,169
Ensembl chr 8:19,502,627...19,523,574
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S1pr5
sphingosine-1-phosphate receptor 5
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,786,676...19,791,862
Ensembl chr 8:19,786,663...19,791,795
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Slc44a2
solute carrier family 44 member 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:28492532
NCBI chr 8:19,870,867...19,905,345
Ensembl chr 8:19,870,888...19,905,342
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Tyk2
tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 PMID:21680795 PMID:22402565 PMID:24033266 PMID:25388448 PMID:25741868 PMID:25849893 PMID:26288847 PMID:26304966 PMID:27615517 PMID:27872624 PMID:28492532 PMID:29725107 PMID:30578352 PMID:31118190 PMID:32537443 PMID:33260630 PMID:33667394 PMID:34569645 PMID:35708626 More...
NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
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Zglp1
zinc finger, GATA-like protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar
PMID:22402565 PMID:26304966 PMID:28492532
NCBI chr 8:19,599,871...19,604,762
Ensembl chr 8:19,599,998...19,604,547
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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 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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Sh3kbp1
SH3 domain-containing kinase-binding protein 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: AGMX2 | ClinVar Annotator: match by term: Immunodeficiency 61
OMIM CTD ClinVar
PMID:25741868 PMID:28492532 PMID:29636373
NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747
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Ank1
ankyrin 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 62
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759
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Arhgef1
Rho guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 62
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30521495
NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
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Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: Immunodeficiency 62
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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Cd40
CD40 molecule
ISO
ClinVar Annotator: match by term: CD40-related condition | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3
OMIM ClinVar
PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 PMID:15307939 PMID:15731360 PMID:17344890 PMID:17949264 PMID:18446002 PMID:20702779 PMID:24033266 PMID:24122029 PMID:25741868 PMID:28492532 PMID:35729272 More...
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Acacb
acetyl-CoA carboxylase beta
ISO
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5
ClinVar
PMID:28492532
NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
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Ung
uracil-DNA glycosylase
ISO
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5
OMIM ClinVar
PMID:9536098 PMID:12958596 PMID:15967827 PMID:16199547 PMID:17029639 PMID:17576681 PMID:21167187 PMID:22252118 PMID:22521144 PMID:23545420 PMID:25741868 PMID:28492532 PMID:29546359 More...
NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
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Aicda
activation-induced cytidine deaminase
ISO ISS
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 OMIM:605258
OMIM ClinVar MouseDO
PMID:9536098 PMID:11007475 PMID:11112359 PMID:12715918 PMID:12910268 PMID:14564357 PMID:14769937 PMID:14962793 PMID:15358621 PMID:15893695 PMID:16199547 PMID:16964591 PMID:17560278 PMID:17576681 PMID:18838546 PMID:20652909 PMID:21192628 PMID:22715099 PMID:23803409 PMID:24033266 PMID:24349193 PMID:24591601 PMID:25025377 PMID:25064858 PMID:25741868 PMID:26551569 PMID:27142677 PMID:27577878 PMID:28492532 PMID:32423680 PMID:33377626 PMID:34992599 More...
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Clec4d
C-type lectin domain family 4, member D
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
ClinVar
PMID:16964591 PMID:28492532
NCBI chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848
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Clec4e
C-type lectin domain family 4, member E
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
ClinVar
PMID:16964591 PMID:28492532
NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767
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Clec6a-ps1
C-type lectin domain family 6, member A, pseudogene 1
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
ClinVar
PMID:16964591 PMID:28492532
NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605 Ensembl chr 4:156,539,408...156,558,605
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 2
ClinVar
PMID:16007086 PMID:16007087 PMID:17392798 PMID:18981294 PMID:21547394 PMID:22884984 PMID:23956760 PMID:25741868 PMID:26046366 PMID:26100089 PMID:27123465 PMID:28492532 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: IgA, selective deficiency of, TACI related | ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20156508 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23225259 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30301590 PMID:30665703 PMID:30723478 PMID:30739909 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33046446 PMID:33258288 PMID:33726816 PMID:34426522 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Ahi1
Abelson helper integration site 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27723758
NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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Clec16a
C-type lectin domain containing 16A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20694011 PMID:27723758
NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNPs,haplotype: :rs231770,rs16840252,rs231775(human)
RGD
PMID:19020530
RGD:11344917
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Icos
inducible T-cell co-stimulator
susceptibility
ISO
DNA:SNPs,haplotype: :rs4521021,rs10172036(human)
RGD
PMID:19020530
RGD:11344917
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20694011 PMID:27723758
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Pvt1
Pvt1 oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27723758
NCBI chr 7:93,656,528...93,879,938
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RT1-Bb
RT1 class II, locus Bb
ISO
RGD
PMID:22291608 PMID:10931389
RGD:11041755 , RGD:11041756
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Arl13a
ADP ribosylation factor like GTPase 13A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,380,370...97,406,704
Ensembl chr X:97,380,390...97,406,702
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Armcx1
armadillo repeat containing, X-linked 1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,898,969...97,902,874
Ensembl chr X:97,898,883...97,903,299
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Armcx2
armadillo repeat containing, X-linked 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,980,662...97,985,523
Ensembl chr X:97,980,660...97,985,552
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Armcx3
armadillo repeat containing, X-linked 3
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,937,115...97,942,098
Ensembl chr X:97,936,999...97,942,098
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Armcx4
armadillo repeat containing, X-linked 4
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,860,526...97,870,912
Ensembl chr X:97,860,629...97,870,912
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Armcx6
armadillo repeat containing, X-linked 6
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,929,032...97,932,031
Ensembl chr X:97,929,041...97,931,977
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8013627 PMID:8090769 PMID:8162018 PMID:8162056 PMID:8164701 PMID:8164707 PMID:8332900 PMID:8332901 PMID:8380905 PMID:8562928 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8723128 PMID:8834236 PMID:8938104 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9192269 PMID:9260159 PMID:9445504 PMID:9524120 PMID:9536098 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10373551 PMID:10612838 PMID:10666480 PMID:10737994 PMID:10754312 PMID:10844531 PMID:10859027 PMID:10887125 PMID:11027452 PMID:11102984 PMID:11206059 PMID:11410123 PMID:11438999 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11555397 PMID:11668622 PMID:11742281 PMID:11809909 PMID:11892085 PMID:11956200 PMID:12175777 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:12768435 PMID:14974089 PMID:15024743 PMID:15112668 PMID:15358621 PMID:15661032 PMID:15821893 PMID:16159644 PMID:16160918 PMID:16199547 PMID:16297664 PMID:16712653 PMID:16729790 PMID:16862044 PMID:16913189 PMID:16943681 PMID:16951917 PMID:17045652 PMID:17327079 PMID:17576681 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19763152 PMID:19904586 PMID:20307669 PMID:20529312 PMID:20721470 PMID:21039741 PMID:21397315 PMID:21520333 PMID:21984432 PMID:22406018 PMID:22736418 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24383975 PMID:24477949 PMID:24586880 PMID:24658450 PMID:24869598 PMID:24885015 PMID:25082755 PMID:25189416 PMID:25270678 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25777788 PMID:26915675 PMID:26931785 PMID:26960951 PMID:27199251 PMID:27512878 PMID:27535475 PMID:27577878 PMID:27593100 PMID:27980540 PMID:28049639 PMID:28212557 PMID:28359783 PMID:28418267 PMID:28492532 PMID:29202590 PMID:29424453 PMID:29496671 PMID:29503650 PMID:29709555 PMID:29875397 PMID:29921932 PMID:30018078 PMID:30072168 PMID:30240888 PMID:30290665 PMID:30311057 PMID:30564228 PMID:30697212 PMID:30882382 PMID:31795557 PMID:32067425 PMID:32117230 PMID:32441320 PMID:32455989 PMID:32477911 PMID:32499645 PMID:32552675 PMID:32581362 PMID:32888943 PMID:33013854 PMID:33042921 PMID:33154951 PMID:33224144 PMID:33225392 PMID:33377626 PMID:33815962 PMID:34029777 PMID:34182127 PMID:34262886 PMID:34975878 PMID:35382780 PMID:36029036 PMID:36790564 More...
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
G
Cenpi
centromere protein I
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,515,919...97,567,671
Ensembl chr X:97,515,972...97,567,657
G
Cstf2
cleavage stimulation factor subunit 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,253,559...97,279,476
Ensembl chr X:97,253,586...97,279,476
G
Drp2
dystrophin related protein 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684
G
Gla
galactosidase, alpha
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557 More...
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
G
Hnrnph2
heterogeneous nuclear ribonucleoprotein H2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557 More...
NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
G
Nox1
NADPH oxidase 1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
G
Nxf7
nuclear RNA export factor 7
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:98,535,374...98,552,562
Ensembl chr X:98,535,375...98,552,526
G
Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
G
Rpl36a
ribosomal protein L36A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 PMID:28492532 PMID:31795557 More...
NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892
G
Srpx2
sushi-repeat-containing protein, X-linked 2
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,106,455...97,132,197
Ensembl chr X:97,106,561...97,132,195
G
Sytl4
synaptotagmin-like 4
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,135,496...97,185,867
Ensembl chr X:97,135,500...97,185,854
G
Taf7l
TATA-box binding protein associated factor 7-like
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023
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Timm8a1
translocase of inner mitochondrial membrane 8A1
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 PMID:22736418 PMID:28492532 More...
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
G
Tmem35a
transmembrane protein 35A
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,503,350...97,514,198
Ensembl chr X:97,503,350...97,514,197
G
Tnmd
tenomodulin
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,057,137...97,072,634
Ensembl chr X:97,057,137...97,072,634
G
Trmt2b
tRNA methyltransferase 2 homolog B
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,425,712...97,483,821
G
Tspan6
tetraspanin 6
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,092,394...97,099,659
Ensembl chr X:97,092,388...97,099,309
G
Xkrx
XK related, X-linked
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar
PMID:28492532
NCBI chr X:97,341,158...97,353,175
Ensembl chr X:97,341,152...97,354,759
G
Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: IgAD1
ClinVar
PMID:17697196 PMID:18200502 PMID:18978466 PMID:18981294 PMID:19629655 PMID:21419480 PMID:21458042 PMID:21850030 PMID:22627058 PMID:22697072 PMID:22884984 PMID:25741868 PMID:27123465 PMID:28492532 PMID:30290665 PMID:31681265 PMID:34975878 More...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Ifng
interferon gamma
ISO
mRNA:decreased expression:peripheral blood leukocyte:
RGD
PMID:9042436
RGD:10755693
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Btk
Bruton tyrosine kinase
ameliorates
ISO ISS
ClinVar Annotator: match by term: X-linked agammaglobulinemia OMIM:300755 CTD Direct Evidence: marker/mechanism Human gene in mouse model human gene in a mouse model DNA:mutations:exon, intron:multiple
OMIM ClinVar MouseDO CTD RGD
PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 PMID:7627183 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8090769 PMID:8162018 PMID:8162056 PMID:8164701 PMID:8164707 PMID:8332900 PMID:8332901 PMID:8380905 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8938104 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9260159 PMID:9445504 PMID:9524120 PMID:9536098 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10373551 PMID:10678660 PMID:10737994 PMID:10754312 PMID:10844531 PMID:10859027 PMID:10887125 PMID:11102984 PMID:11206059 PMID:11410123 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11555397 PMID:11564824 PMID:11586956 PMID:11668622 PMID:11742281 PMID:11809909 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:12768435 PMID:14974089 PMID:15024743 PMID:15112668 PMID:15661032 PMID:16053733 PMID:16159644 PMID:16160918 PMID:16199547 PMID:16712653 PMID:16751014 PMID:16862044 PMID:16913189 PMID:16951917 PMID:17045652 PMID:17164954 PMID:17327079 PMID:17576681 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19904586 PMID:20529312 PMID:21397315 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24383975 PMID:24820629 PMID:24885015 PMID:25142992 PMID:25525159 PMID:25741868 PMID:25777788 PMID:26915675 PMID:26981933 PMID:27512878 PMID:27577878 PMID:27980540 PMID:28492532 PMID:29424453 PMID:29503650 PMID:29921932 PMID:30072168 PMID:30240888 PMID:30290665 PMID:30311057 PMID:30564228 PMID:30627929 PMID:30697212 PMID:31803177 PMID:32499645 PMID:32581362 PMID:32888943 PMID:33042921 PMID:33224144 PMID:33377626 PMID:34029777 PMID:34975878 PMID:20574453 PMID:15142874 PMID:12655572 PMID:15024743 More...
RGD:124715475 , RGD:124713551 , RGD:11040698 , RGD:11040588
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
G
Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: X-linked agammaglobulinemia
ClinVar
PMID:26809805 PMID:28492532 PMID:34120753 PMID:36100708
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISS
OMIM:300310 | OMIM:300755
MouseDO
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
G
Adgrg4
adhesion G protein-coupled receptor G4
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449
G
Aicda
activation-induced cytidine deaminase
ISO
ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Arhgef6
Rac/Cdc42 guanine nucleotide exchange factor 6
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
G
Brs3
bombesin receptor subtype 3
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
G
Cd40
CD40 molecule
ISO
ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome
ClinVar
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome
ClinVar
PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 PMID:7679801 PMID:7717401 PMID:7906987 PMID:7907793 PMID:7916370 PMID:8094231 PMID:8550833 PMID:8589998 PMID:8889581 PMID:9150729 PMID:9536098 PMID:9605317 PMID:9746782 PMID:10366125 PMID:10484640 PMID:10559240 PMID:10651941 PMID:11038461 PMID:11158612 PMID:11850600 PMID:14514918 PMID:14641931 PMID:15319456 PMID:15358621 PMID:15623492 PMID:15924140 PMID:16019685 PMID:16169277 PMID:16199547 PMID:16509032 PMID:17146684 PMID:17351759 PMID:17553565 PMID:17576681 PMID:18342287 PMID:18805740 PMID:18955577 PMID:19575287 PMID:20301576 PMID:20591076 PMID:20652909 PMID:20981468 PMID:21465648 PMID:21543760 PMID:22009004 PMID:22193914 PMID:22750225 PMID:22928961 PMID:22963373 PMID:23622016 PMID:23653974 PMID:24123890 PMID:24402618 PMID:24768948 PMID:24929972 PMID:25215306 PMID:25541662 PMID:25741868 PMID:26545377 PMID:26997321 PMID:27189378 PMID:27324886 PMID:27484504 PMID:28492532 PMID:28916186 PMID:29077208 PMID:29525420 PMID:30053428 PMID:30405923 PMID:31117086 PMID:31179555 PMID:31331973 PMID:32888943 PMID:33060515 PMID:34335625 PMID:35570134 PMID:35572607 PMID:35753512 PMID:35874699 PMID:36478253 More...
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Fhl1
four and a half LIM domains 1
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
G
Gpr101
G protein-coupled receptor 101
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
G
Htatsf1
HIV-1 Tat specific factor 1
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
G
Map7d3
MAP7 domain containing 3
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841
G
Rbmx
RNA binding motif protein, X-linked
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
G
Slc9a6
solute carrier family 9 member A6
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
G
Ung
uracil-DNA glycosylase
ISO
ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome
ClinVar
NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
G
Vgll1
vestigial-like family member 1
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,979,657...134,996,007
G
Zic3
Zic family member 3
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
G
Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Hypogammaglobulinemia, X-linked
ClinVar
PMID:8758136
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all