|
G |
Adar |
adenosine deaminase, RNA-specific |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:175,138,391...175,178,280
|
|
G |
Arpc1b |
actin related protein 2/3 complex, subunit 1B |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:25741868 PMID:27965109 PMID:28368018 PMID:28492532 PMID:29127144 PMID:32499645 More...
|
|
NCBI chr12:14,595,939...14,609,501
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|
G |
Bcl11b |
BCL11 transcription factor B |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:25627829 PMID:27959755 |
|
NCBI chr 6:126,834,531...126,927,720
|
|
G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr19:40,425,560...40,724,810
|
|
G |
Carmil2 |
capping protein regulator and myosin 1 linker 2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:25741868 PMID:28112205 |
|
NCBI chr19:33,571,255...33,586,783
|
|
G |
Cd27 |
CD27 molecule |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:25741868 PMID:25843314 PMID:28492532 PMID:32499645 |
|
NCBI chr 4:158,030,700...158,035,862
|
|
G |
Copg1 |
COPI coat complex subunit gamma 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 4:120,366,540...120,392,502
|
|
G |
Icoslg |
inducible T-cell co-stimulator ligand |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:25741868 PMID:30498080 |
|
NCBI chr20:10,600,420...10,610,718
|
|
G |
Il2rg |
interleukin 2 receptor subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr X:66,395,330...66,399,026
|
|
G |
Man2b2 |
mannosidase, alpha, class 2B, member 2 |
|
ISO |
ClinVar Annotator: match by term: MAN2B2-related disorder |
ClinVar |
PMID:25741868 PMID:31775018 |
|
NCBI chr14:73,969,079...73,994,089
|
|
G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 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:24714796 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:28408708 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:29300372 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
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|
NCBI chr15:32,416,525...32,439,851
|
|
G |
Pold1 |
DNA polymerase delta 1, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:23770608 PMID:25741868 PMID:28492532 PMID:30023403 PMID:31278166 PMID:31449058 PMID:31629014 PMID:31750734 More...
|
|
NCBI chr 1:104,161,984...104,178,074
|
|
G |
Stat1 |
signal transducer and activator of transcription 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 PMID:25042743 PMID:25741868 PMID:26604104 PMID:26743090 PMID:27379765 PMID:27577878 PMID:28492532 PMID:28597685 More...
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|
NCBI chr 9:56,911,522...56,951,926
|
|
G |
Tfrc |
transferrin receptor |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:25741868 PMID:26642240 |
|
NCBI chr11:81,668,478...81,690,318
|
|
G |
Tmco1 |
transmembrane and coiled-coil domains 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:20018682 PMID:23320496 PMID:24033266 PMID:24194475 PMID:24424126 PMID:25627829 More...
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|
NCBI chr13:81,993,172...82,016,496
|
|
G |
Zap70 |
zeta chain of T cell receptor associated protein kinase 70 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:20301777 PMID:25627829 PMID:25741868 PMID:26783323 PMID:28492532 PMID:37313400 More...
|
|
NCBI chr 9:46,485,605...46,507,552
|
|
|
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
|
|
G |
Ada |
adenosine deaminase |
|
ISO ISS |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency OMIM:102700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
OMIM ClinVar MouseDO CTD |
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 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:33442025 PMID:33628209 PMID:33975924 PMID:34502390 PMID:34975878 PMID:35729272 PMID:35729475 PMID:36685585 More...
|
|
NCBI chr 3:152,398,745...152,422,854
|
|
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
|
|
G |
Cd247 |
Cd247 molecule |
|
ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 PMID:31681265 More...
|
|
NCBI chr13:80,576,264...80,651,422
|
|
G |
Cd3e |
CD3 epsilon subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:54,200,617...54,211,770
|
|
G |
Cd3g |
CD3 gamma subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 |
|
NCBI chr 8:54,177,572...54,184,087
|
|
G |
Cd40 |
CD40 molecule |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:174,209,113...174,224,592
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
G |
Fitm2 |
fat storage-inducing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:172,560,781...172,567,291
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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:16843266 PMID:17252020 PMID:17433830 PMID:17644747 PMID:18641513 PMID:19203666 PMID:21184155 PMID:22237106 PMID:22425895 PMID:23384681 PMID:23832011 PMID:24446122 PMID:25146434 PMID:25595890 PMID:25741868 PMID:28492532 PMID:30697212 PMID:30778343 PMID:32754152 PMID:33040328 PMID:33365035 PMID:34173127 PMID:35482138 More...
|
|
NCBI chr16:18,418,807...18,432,515
|
|
G |
Jph2 |
junctophilin 2 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:172,414,246...172,478,678
|
|
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
|
|
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
|
|
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
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:174,103,474...174,111,434
|
|
G |
Mybl2 |
MYB proto-oncogene like 2 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:172,124,765...172,153,221
|
|
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:24714796 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:28408708 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:29300372 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
|
|
NCBI chr15:32,416,525...32,439,851
|
|
G |
Nbn |
nibrin |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:25326637 PMID:26467025 PMID:28492532 PMID:30287823 |
|
NCBI chr 5:34,256,678...34,291,163
|
|
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
|
|
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
|
|
G |
Nhej1 |
nonhomologous end-joining factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:12604777 PMID:16439204 PMID:16439205 PMID:16571728 PMID:20597108 PMID:28492532 More...
|
|
NCBI chr 9:76,526,322...76,622,488
|
|
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
|
|
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
|
|
G |
Pabpc1l |
poly(A) binding protein, cytoplasmic 1-like |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:173,111,856...173,145,389
|
|
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
|
|
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
|
|
G |
Pkig |
cAMP-dependent protein kinase inhibitor gamma |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:172,749,871...172,817,514
|
|
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
|
|
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
|
|
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:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18463379 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19458910 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:28747913 PMID:28769923 PMID:28783691 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30877075 PMID:31031743 PMID:31632441 PMID:32373116 PMID:32445296 PMID:32655540 PMID:32888943 PMID:33365035 PMID:33628209 PMID:34224223 PMID:34664192 PMID:35281013 PMID:35303369 PMID:35503492 PMID:37724703 More...
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NCBI chr 3:87,917,061...87,928,158
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G |
Rag2 |
recombination activating 2 |
|
ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:15025726 PMID:24174341 PMID:25741868 PMID:26457731 PMID:28492532 PMID:28769923 PMID:29051008 PMID:29772310 PMID:30307608 PMID:30778343 PMID:31388879 PMID:32888943 More...
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NCBI chr 3:87,902,373...87,910,227
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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 |
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NCBI chr 3:153,134,044...153,147,421
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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
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|
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
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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
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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
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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
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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
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G |
Slc2a10 |
solute carrier family 2 member 10 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:174,659,683...174,671,978
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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
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G |
Slpi |
secretory leukocyte peptidase inhibitor |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:173,501,573...173,503,822
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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
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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
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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
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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
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|
G |
Stk4 |
serine/threonine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:173,165,238...173,247,135
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|
G |
Sys1 |
Sys1 golgi trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:153,191,061...153,195,463
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G |
Tnnc2 |
troponin C2, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:153,513,272...153,516,033
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|
G |
Tomm34 |
translocase of outer mitochondrial membrane 34 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:173,148,737...173,165,689
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|
G |
Tox2 |
TOX high mobility group box family member 2 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:151,853,294...151,980,086
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G |
Tp53rka |
Tp53 tumor protein p53 regulating kinase A |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:174,638,962...174,645,198
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|
G |
Tp53tg5 |
TP53 target 5 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:153,200,792...153,204,337
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|
G |
Ttpal |
alpha tocopherol transfer protein like |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:152,278,246...152,296,550
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|
G |
Ube2c |
ubiquitin-conjugating enzyme E2C |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:173,925,975...173,928,375
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|
G |
Wfdc10a |
WAP four-disulfide core domain 10A |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:153,390,067...153,391,420
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|
G |
Wfdc11 |
WAP four-disulfide core domain 11 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:153,397,585...153,406,407
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|
G |
Wfdc12 |
WAP four-disulfide core domain 12 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:152,861,461...152,862,784
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G |
Wfdc13 |
WAP four-disulfide core domain 13 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:153,419,553...153,421,306
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G |
Wfdc2 |
WAP four-disulfide core domain 2 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:153,286,946...153,314,832
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G |
Wfdc3 |
WAP four-disulfide core domain 3 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:153,464,862...153,478,952
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|
G |
Wfdc5 |
WAP four-disulfide core domain 5 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:152,849,025...152,854,868
|
|
G |
Wfdc6a |
WAP four-disulfide core domain 6A |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:153,305,336...153,309,144
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|
G |
Wfdc8 |
WAP four-disulfide core domain 8 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:153,323,503...153,339,849
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|
G |
Wfdc9 |
WAP four-disulfide core domain 9 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:153,380,554...153,389,055
|
|
G |
Ywhab |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:173,078,904...173,101,508
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|
G |
Zfp334 |
zinc finger protein 334 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:154,112,537...154,125,087
|
|
G |
Zfp335 |
zinc finger protein 335 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:153,618,587...153,648,213
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G |
Zswim1 |
zinc finger, SWIM-type containing 1 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:153,559,104...153,562,821
|
|
G |
Zswim3 |
zinc finger, SWIM-type containing 3 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
|
NCBI chr 3:153,542,741...153,558,022
|
|
|
G |
Abcg4 |
ATP binding cassette subfamily G member 4 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,508,005...53,525,314
|
|
G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,423,945...55,425,729
|
|
G |
Apoa4 |
apolipoprotein A4 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,435,779...55,438,160
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|
G |
Apoc3 |
apolipoprotein C3 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:46,531,478...46,533,658
|
|
G |
Arcn1 |
archain 1 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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|
NCBI chr 8:53,954,401...53,979,005
|
|
G |
Arhgef12 |
Rho guanine nucleotide exchange factor 12 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:52,247,047...52,373,158
|
|
G |
Atp5mg |
ATP synthase membrane subunit G |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,122,457...54,130,407
|
|
G |
Bace1 |
beta-secretase 1 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,038,842...55,061,138
|
|
G |
Bcl9l |
BCL9 like |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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|
NCBI chr 8:53,708,770...53,738,880
|
|
G |
C1qtnf5 |
C1q and TNF related 5 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,347,754...53,349,912
|
|
G |
C2cd2l |
C2CD2-like |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,544,887...53,557,127
|
|
G |
Cbl |
Cbl proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,384,656...53,468,067
|
|
G |
Cd3d |
CD3 delta subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,184,573...54,190,112
|
|
G |
Cd3e |
CD3 epsilon subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:25741868 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,200,617...54,211,770
|
|
G |
Cd3g |
CD3 gamma subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,177,572...54,184,087
|
|
G |
Cenatac |
centrosomal AT-AC splicing factor |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,632,777...53,639,661
|
|
G |
Cep164 |
centrosomal protein 164 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:54,967,621...55,031,264
|
|
G |
Cxcr5 |
C-X-C motif chemokine receptor 5 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,738,878...53,756,813
|
|
G |
Ddx6 |
DEAD-box helicase 6 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,827,661...53,864,538
|
|
G |
Dpagt1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,560,869...53,567,625
|
|
G |
Drc12 |
dynein regulatory complex subunit 12 homolog |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,468,344...53,481,168
|
|
G |
Dscaml1 |
DS cell adhesion molecule-like 1 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:54,637,054...54,954,042
|
|
G |
Foxr1 |
forkhead box R1 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,657,388...53,669,424
|
|
G |
Fxyd2 |
FXYD domain-containing ion transport regulator 2 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:45,712,901...45,720,032
|
|
G |
Fxyd6 |
FXYD domain-containing ion transport regulator 6 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:45,679,054...45,705,958
|
|
G |
Grik4 |
glutamate ionotropic receptor kainate type subunit 4 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:42,903,043...43,331,990
|
|
G |
H2ax |
H2A.X variant histone |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,568,718...53,570,072
|
|
G |
Hinfp |
histone H4 transcription factor |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,525,576...53,541,101
|
|
G |
Hmbs |
hydroxymethylbilane synthase |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,570,364...53,577,758
|
|
G |
Hyou1 |
hypoxia up-regulated 1 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,602,882...53,614,998
|
|
G |
Ift46 |
intraflagellar transport 46 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,975,085...54,000,837
|
|
G |
Il10ra |
interleukin 10 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,459,754...54,474,786
|
|
G |
Jaml |
junction adhesion molecule like |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,281,596...54,313,655
|
|
G |
Kmt2a |
lysine methyltransferase 2A |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,013,547...54,089,219
|
|
G |
Mcam |
melanoma cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:44,479,391...44,487,575
|
|
G |
Mfrp |
membrane frizzled-related protein |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:44,445,636...44,450,859
|
|
G |
Mpzl2 |
myelin protein zero-like 2 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,244,920...54,256,064
|
|
G |
Mpzl3 |
myelin protein zero-like 3 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,257,235...54,277,422
|
|
G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:44,101,776...44,164,863
|
|
G |
Nherf4 |
NHERF family PDZ scaffold protein 4 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,481,209...53,485,793
|
|
G |
Nlrx1 |
NLR family member X1 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,486,866...53,503,498
|
|
G |
Oaf |
out at first homolog |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:43,594,362...43,612,334
|
|
G |
Pafah1b2 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:46,260,069...46,312,073
|
|
G |
Pcsk7 |
proprotein convertase subtilisin/kexin type 7 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,098,821...55,121,416
|
|
G |
Phldb1 |
pleckstrin homology-like domain, family B, member 1 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,900,338...53,948,325
|
|
G |
Pou2f3 |
POU class 2 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:43,495,408...43,577,795
|
|
G |
Rnf214 |
ring finger protein 214 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:46,166,269...46,202,048
|
|
G |
Rnf26 |
ring finger protein 26 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:44,454,551...44,456,745
|
|
G |
Rps25 |
ribosomal protein s25 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,630,333...53,632,810
|
|
G |
Sc5d |
sterol-C5-desaturase |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:42,629,649...42,641,257
|
|
G |
Scn2b |
sodium voltage-gated channel beta subunit 2 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,322,383...54,334,519
|
|
G |
Scn4b |
sodium voltage-gated channel beta subunit 4 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,343,873...54,359,046
|
|
G |
Sidt2 |
SID1 transmembrane family, member 2 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,129,091...55,146,446
|
|
G |
Sik3 |
SIK family kinase 3 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,208,969...55,419,138
|
|
G |
Slc37a4 |
solute carrier family 37 member 4 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,619,952...53,626,110
|
|
G |
Sorl1 |
sortilin related receptor 1 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,238,713...51,401,458
|
|
G |
Tagln |
transgelin |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,121,647...55,127,121
|
|
G |
Tbcel |
tubulin folding cofactor E-like |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:42,795,648...42,854,552
|
|
G |
Tecta |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:42,707,962...42,779,726
|
|
G |
Thy1 |
Thy-1 cell surface antigen |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,286,396...53,291,541
|
|
G |
Tlcd5 |
TLC domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:43,481,388...43,486,288
|
|
G |
Tmem25 |
transmembrane protein 25 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,003,907...54,009,469
|
|
G |
Tmprss13 |
transmembrane serine protease 13 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:45,625,759...45,653,943
|
|
G |
Tmprss4 |
transmembrane serine protease 4 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:45,475,819...45,508,409
|
|
G |
Trappc4 |
trafficking protein particle complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,626,382...53,630,042
|
|
G |
Treh |
trehalase |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,886,946...53,901,113
|
|
G |
Trim29 |
tripartite motif-containing 29 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:52,579,175...52,603,919
|
|
G |
Ttc36 |
tetratricopeptide repeat domain 36 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,009,522...54,013,129
|
|
G |
Ube4a |
ubiquitination factor E4A |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,132,799...54,174,921
|
|
G |
Upk2 |
uroplakin 2 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,675,994...53,677,986
|
|
G |
Usp2 |
ubiquitin specific peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,308,264...53,336,800
|
|
G |
Vps11 |
VPS11 core subunit of CORVET and HOPS complexes |
|
ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,580,939...53,595,378
|
|
|
G |
Cd40 |
CD40 molecule |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM |
ClinVar |
PMID:25741868 PMID:29884852 |
|
NCBI chr 3:174,209,113...174,224,592
|
|
G |
Cd40lg |
CD40 ligand |
disease_progression |
ISO |
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:mutations:exon, intron:multiple DNA:missense mutation:exon:p.T169N (526T>A) (human) |
ClinVar RGD CTD OMIM |
PMID:15611226 PMID:21841160 PMID:25741868 PMID:28492532 PMID:21841160 PMID:17553565 PMID:15358621 PMID:16508335 More...
|
RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 |
NCBI chr X:140,164,341...140,176,057
|
|
|
G |
Iftap |
intraflagellar transport associated protein |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas |
ClinVar |
PMID:8810255 PMID:11133745 PMID:24290284 PMID:25739914 PMID:28492532 |
|
NCBI chr 3:87,812,068...87,906,517
|
|
G |
Rag1 |
recombination activating 1 |
|
ISO |
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:290284 PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:14670978 PMID:15696198 PMID:15908971 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17176792 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18223550 PMID:18442948 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19011808 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19458910 PMID:19830075 PMID:19912631 PMID:20109747 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21625022 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:23891352 PMID:24033266 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24331380 PMID:24406074 PMID:24418478 PMID:24472623 PMID:24817258 PMID:24985406 PMID:25104208 PMID:25516070 PMID:25707801 PMID:25739914 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26689875 PMID:26829731 PMID:27095930 PMID:27301863 PMID:27484032 PMID:27609655 PMID:27713031 PMID:28083621 PMID:28109013 PMID:28216420 PMID:28492532 PMID:28623282 PMID:28747913 PMID:28769923 PMID:28783691 PMID:28864286 PMID:28973083 PMID:29104089 PMID:29107076 PMID:29772310 PMID:30046960 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 PMID:31031743 PMID:31130284 PMID:31313695 PMID:31503426 PMID:31632441 PMID:31980526 PMID:32000930 PMID:32373116 PMID:32445296 PMID:32447396 PMID:32633164 PMID:32655540 PMID:32670274 PMID:32888943 PMID:33117328 PMID:33193364 PMID:33365035 PMID:33628209 PMID:33954879 PMID:34224223 PMID:34664192 PMID:34889447 PMID:35281013 PMID:35303369 PMID:35503492 PMID:35729272 PMID:35902638 PMID:36279417 PMID:37724703 PMID:39062069 More...
|
|
NCBI chr 3:87,917,061...87,928,158
|
|
G |
Rag2 |
recombination activating 2 |
|
ISO |
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2618670 PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:12200379 PMID:15025726 PMID:16111638 PMID:16960852 PMID:17476358 PMID:17572155 PMID:18025461 PMID:18033247 PMID:18463379 PMID:18682256 PMID:19178939 PMID:19333736 PMID:19414857 PMID:19763152 PMID:20234091 PMID:20307669 PMID:20603253 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21625022 PMID:21664875 PMID:22295088 PMID:22406018 PMID:22841008 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:24174341 PMID:24290284 PMID:24331380 PMID:24481607 PMID:24996264 PMID:25109802 PMID:25333069 PMID:25707801 PMID:25739914 PMID:25741868 PMID:25842288 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26692406 PMID:26915675 PMID:26996199 PMID:27730413 PMID:28492532 PMID:28600779 PMID:28747913 PMID:28769923 PMID:28970295 PMID:29051008 PMID:29095814 PMID:29658452 PMID:29772310 PMID:30305145 PMID:30307608 PMID:30778343 PMID:31031743 PMID:31058115 PMID:31334206 PMID:31388879 PMID:31838659 PMID:32445296 PMID:32531373 PMID:32581362 PMID:32655540 PMID:32888943 PMID:33505738 PMID:33628209 PMID:33954879 PMID:35281013 PMID:35902420 More...
|
|
NCBI chr 3:87,902,373...87,910,227
|
|
|
G |
Mthfd1 |
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
ClinVar OMIM |
PMID:11004530 PMID:15633187 PMID:16199547 PMID:16315005 PMID:16552426 PMID:17894836 PMID:18277167 PMID:21813566 PMID:23296427 PMID:23402911 PMID:24033266 PMID:25548164 PMID:25633902 PMID:25741868 PMID:27707659 PMID:28492532 PMID:31203817 PMID:31589614 PMID:32414565 More...
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NCBI chr 6:94,977,862...95,045,375
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G |
Acp5 |
acid phosphatase 5, tartrate resistant |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation |
OMIM CTD ClinVar |
PMID:2363422 PMID:9536098 PMID:12786759 PMID:13524805 PMID:16470600 PMID:17576681 PMID:18924170 PMID:21217752 PMID:21217755 PMID:24033266 PMID:25741868 PMID:26346816 PMID:26789720 PMID:26951490 PMID:27125509 PMID:27390188 PMID:27718324 PMID:27943079 PMID:28492532 PMID:28740483 PMID:31286717 PMID:32214327 More...
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NCBI chr 8:28,939,984...28,946,639
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G |
Adar |
adenosine deaminase, RNA-specific |
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ISO |
ClinVar Annotator: match by term: Congenital combined immunodeficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 2:175,138,391...175,178,280
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr19:40,425,560...40,724,810
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G |
Carmil2 |
capping protein regulator and myosin 1 linker 2 |
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ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
ClinVar |
PMID:25741868 |
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NCBI chr19:33,571,255...33,586,783
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G |
Cd27 |
CD27 molecule |
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ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
ClinVar |
PMID:25741868 PMID:25843314 PMID:28492532 PMID:32499645 |
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NCBI chr 4:158,030,700...158,035,862
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G |
Cd40lg |
CD40 ligand |
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ISO |
DNA:polymorphism: :p.G219R (human) |
RGD |
PMID:21543760 |
RGD:5490593 |
NCBI chr X:140,164,341...140,176,057
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G |
Il2rg |
interleukin 2 receptor subunit gamma |
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ISO IMP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Combined immunodeficiency, X-linked | ClinVar Annotator: match by term: X-Linked Combined Immunodeficiency Diseases |
OMIM CTD ClinVar RGD |
PMID:7557965 PMID:7632950 PMID:7668284 PMID:7883965 PMID:7973658 PMID:8088810 PMID:9049783 PMID:9058718 PMID:9399950 PMID:9633906 PMID:10792291 PMID:10794430 PMID:10794431 PMID:11129345 PMID:12126929 PMID:14966353 PMID:16199547 PMID:16227049 PMID:18641513 PMID:20301584 PMID:21184155 PMID:22039266 PMID:23683512 PMID:24534054 PMID:25042067 PMID:25741868 PMID:25869287 PMID:28492532 PMID:28747913 PMID:29948574 PMID:30622570 PMID:30778380 PMID:31799703 PMID:31965297 PMID:32499645 PMID:33628209 PMID:20111598 More...
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RGD:2316325 |
NCBI chr X:66,395,330...66,399,026
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G |
Il2rgem1Kyo |
interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo |
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IMP |
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RGD |
PMID:20111598 |
RGD:2316325 |
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G |
Il2rgem2Kyo |
interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo |
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IMP |
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RGD |
PMID:20111598 |
RGD:2316325 |
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G |
Myh7 |
myosin heavy chain 7 |
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ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
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:24714796 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:28408708 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:29300372 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
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NCBI chr15:32,416,525...32,439,851
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G |
Stat1 |
signal transducer and activator of transcription 1 |
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ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
ClinVar |
PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 PMID:25042743 PMID:25741868 PMID:26604104 PMID:26743090 PMID:27379765 PMID:27577878 PMID:28492532 PMID:28597685 More...
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NCBI chr 9:56,911,522...56,951,926
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G |
Tfrc |
transferrin receptor |
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ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
ClinVar |
PMID:25741868 PMID:26642240 |
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NCBI chr11:81,668,478...81,690,318
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G |
Tmco1 |
transmembrane and coiled-coil domains 1 |
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ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
ClinVar |
PMID:20018682 PMID:23320496 PMID:24033266 PMID:24194475 PMID:24424126 PMID:25627829 More...
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NCBI chr13:81,993,172...82,016,496
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G |
Aldoa |
aldolase, fructose-bisphosphate A |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,402,275...181,407,476
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G |
Aldoart2 |
aldolase 1 A retrogene 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:18836449 PMID:25073507 PMID:28492532 |
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NCBI chr 6:72,939,821...72,941,511
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G |
Asphd1 |
aspartate beta-hydroxylase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,552,968...181,556,902
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G |
Bola2 |
bolA family member 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:181,291,967...181,292,833
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G |
C1h16orf92 |
similar to human chromosome 16 open reading frame 92 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,434,524...181,441,000
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G |
Cdipt |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,583,098...181,587,409
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G |
Coro1a |
coronin 1A |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8 |
OMIM ClinVar |
PMID:2825199 PMID:9536098 PMID:14615364 PMID:16199547 PMID:17576681 PMID:18836449 PMID:19097825 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:23522482 PMID:24033266 PMID:24372385 PMID:24811917 PMID:25073507 PMID:25666293 PMID:25741868 PMID:27577878 PMID:28492532 PMID:30899265 More...
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NCBI chr 1:181,295,561...181,300,566
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G |
Doc2a |
double C2 domain alpha |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,457,415...181,462,528
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G |
Gdpd3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,373,505...181,383,063
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G |
Gja3 |
gap junction protein, alpha 3 |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION |
ClinVar |
PMID:17615540 PMID:25073507 PMID:25741868 PMID:26694549 |
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NCBI chr15:31,181,360...31,206,820
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G |
Hirip3 |
HIRA interacting protein 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,472,537...181,475,082
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G |
Ino80e |
INO80 complex subunit E |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:190,891,315...190,902,902
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G |
Kctd13 |
potassium channel tetramerization domain containing 13 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,534,534...181,552,843
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G |
Kif22 |
kinesin family member 22 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,635,347...181,650,351
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G |
Lrba |
LPS responsive beige-like anchor protein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:16199547 PMID:22608502 PMID:25741868 PMID:26206937 PMID:26768763 PMID:28492532 More...
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NCBI chr 2:173,919,330...174,500,536
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G |
Mapk3 |
mitogen activated protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:190,797,189...190,803,411
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G |
Maz |
MYC associated zinc finger protein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,629,742...181,635,193
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G |
Mcee |
methylmalonyl CoA epimerase |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:17823972 PMID:25073507 PMID:28492532 |
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NCBI chr 1:117,964,576...117,987,779
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G |
Mvp |
major vault protein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:191,025,259...191,052,866
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G |
Pagr1 |
Paxip1-associated glutamate-rich protein 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,622,698...181,625,024
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G |
Ppp4c |
protein phosphatase 4, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,392,899...181,399,703
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G |
Prrt2 |
proline-rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,625,243...181,628,833
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G |
Rhoh |
ras homolog family member H |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:42,694,860...42,725,690
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G |
Sez6l2 |
seizure related 6 homolog like 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,557,109...181,577,456
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G |
Slx1b |
SLX1 homolog B, structure-specific endonuclease subunit |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,286,190...181,291,739
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G |
Taok2 |
TAO kinase 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:190,906,236...190,925,359
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G |
Tbx6 |
T-box transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,387,851...181,392,762
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G |
Tlcd3b |
TLC domain containing 3B |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,421,104...181,439,744
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G |
Tmem219 |
transmembrane protein 219 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,496,195...181,509,259
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G |
Ypel3 |
yippee-like 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:2825199 PMID:14615364 PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,384,385...181,387,706
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G |
Lig4 |
DNA ligase 4 |
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ISO ISS |
ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders | ClinVar Annotator: match by term: LIG4-related disorder OMIM:606593 CTD Direct Evidence: marker/mechanism DNA:missense mutation: :p.R278H (mouse) DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human) DNA:missense mutation: :p.Y288C (mouse) |
OMIM ClinVar MouseDO CTD RGD |
PMID:1779494 PMID:2489227 PMID:2523926 PMID:5333585 PMID:7063650 PMID:10395545 PMID:11349135 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:16358361 PMID:16358631 PMID:16585603 PMID:18845326 PMID:21664875 PMID:23337116 PMID:23372718 PMID:24027040 PMID:24033266 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:26151233 PMID:26608917 PMID:26762768 PMID:27063650 PMID:27577878 PMID:27612988 PMID:27855655 PMID:27893162 PMID:28039949 PMID:28492532 PMID:28866308 PMID:29146883 PMID:30607663 PMID:30719430 PMID:31589614 PMID:31604460 PMID:31696992 PMID:32534991 PMID:34630384 PMID:35592332 PMID:35665709 PMID:35776903 PMID:37004747 PMID:37865086 PMID:20133615 PMID:27063650 PMID:19451691 More...
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RGD:13204717, RGD:13204707, RGD:8694074 |
NCBI chr16:79,518,393...79,526,956
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:25741868 |
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NCBI chr X:157,352,364...157,372,144
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia CTD Direct Evidence: marker/mechanism DNA:mutation:splicing site: |
OMIM ClinVar CTD RGD |
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15229184 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18179816 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25068423 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 PMID:16333836 More...
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RGD:12791265 |
NCBI chr X:157,358,279...157,397,563
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G |
Il7 |
interleukin 7 |
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ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 | ClinVar Annotator: match by term: IL7-related condition |
OMIM ClinVar |
PMID:25741868 PMID:25981006 PMID:28492532 PMID:31900472 PMID:39352394 |
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NCBI chr 2:96,142,523...96,186,282
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G |
Stim1 |
stromal interaction molecule 1 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 PMID:22190180 PMID:24033266 PMID:24621671 PMID:25741868 PMID:25918394 PMID:26560041 PMID:28492532 PMID:31844136 PMID:32098964 PMID:33628209 PMID:35724962 More...
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NCBI chr 1:156,656,246...156,818,777
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G |
Cd3d |
CD3 delta subunit of T-cell receptor complex |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 104 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:54,184,573...54,190,112
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G |
Il7r |
interleukin 7 receptor |
|
ISO |
ClinVar Annotator: match by term: IL7R-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 104, SEVERE COMBINED | ClinVar Annotator: match by term: Immunodeficiency 104 |
OMIM ClinVar |
PMID:9536098 PMID:9843216 PMID:10899029 PMID:11023514 PMID:15615257 PMID:15661025 PMID:16199547 PMID:16492442 PMID:17201233 PMID:17576681 PMID:17827065 PMID:18403192 PMID:18442948 PMID:18641513 PMID:19763152 PMID:19890784 PMID:20021794 PMID:20307669 PMID:21664875 PMID:22406018 PMID:23810098 PMID:24033266 PMID:24578017 PMID:24728327 PMID:24759676 PMID:25046553 PMID:25255367 PMID:25741868 PMID:26123418 PMID:27577878 PMID:27807805 PMID:27833609 PMID:28436970 PMID:28492532 PMID:28747913 PMID:29551298 PMID:30290665 PMID:30778343 PMID:30858051 PMID:31031743 PMID:32445296 PMID:32576985 PMID:32765500 PMID:32888943 PMID:33084842 PMID:33628209 PMID:35418989 PMID:38274105 More...
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NCBI chr 2:58,452,393...58,477,757
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G |
Ptprc |
protein tyrosine phosphatase, receptor type, C |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 104, SEVERE COMBINED | ClinVar Annotator: match by term: Immunodeficiency 104 |
ClinVar |
PMID:7621884 PMID:9536098 PMID:10700239 PMID:11101853 PMID:11528386 PMID:11548742 PMID:11841494 PMID:12373647 PMID:15372250 PMID:16199547 PMID:16505159 PMID:17576681 PMID:19111528 PMID:21507955 PMID:25741868 PMID:26915675 PMID:28492532 PMID:31848144 More...
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NCBI chr13:52,147,717...52,259,810
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G |
Rag1 |
recombination activating 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 104 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:87,917,061...87,928,158
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|
G |
Rag2 |
recombination activating 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 104 |
ClinVar |
PMID:20603253 PMID:21131235 PMID:24481607 PMID:25741868 PMID:26476733 PMID:26515615 PMID:28492532 PMID:29772310 More...
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NCBI chr 3:87,902,373...87,910,227
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G |
Ptprc |
protein tyrosine phosphatase, receptor type, C |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 105 | ClinVar Annotator: match by term: Immunodeficiency 105, severe combined |
OMIM ClinVar |
PMID:7621884 PMID:9068311 PMID:10700239 PMID:11101853 PMID:11145714 PMID:11528386 PMID:11548742 PMID:11841494 PMID:12373647 PMID:15372250 PMID:16505159 PMID:19111528 PMID:21507955 PMID:22689986 PMID:25741868 PMID:26915675 PMID:28492532 More...
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NCBI chr13:52,147,717...52,259,810
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G |
Amz1 |
archaelysin family metallopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency |
ClinVar |
PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 |
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NCBI chr12:13,886,518...13,924,275
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G |
Brat1 |
BRCA1-associated ATM activator 1 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency |
ClinVar |
PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 |
|
NCBI chr12:13,928,889...13,951,760
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G |
Card11 |
caspase recruitment domain family, member 11 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18323416 PMID:23027925 PMID:23129749 PMID:23149938 PMID:23374270 PMID:23561803 PMID:24033266 PMID:24728327 PMID:25087226 PMID:25352053 PMID:25741868 PMID:25930198 PMID:26289640 PMID:26861442 PMID:28492532 PMID:28628108 PMID:28824638 PMID:28826773 PMID:29472930 PMID:30170123 PMID:30894704 PMID:32581362 PMID:33202260 PMID:33425813 PMID:34573280 PMID:34975878 PMID:35753512 More...
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NCBI chr12:18,735,088...18,872,045
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G |
Gna12 |
G protein subunit alpha 12 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency |
ClinVar |
PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 |
|
NCBI chr12:13,805,580...13,886,255
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G |
Iqce |
IQ motif containing E |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency |
ClinVar |
PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 |
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NCBI chr12:13,943,290...13,982,708
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G |
Lfng |
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency |
ClinVar |
PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 |
|
NCBI chr12:19,144,474...19,152,951
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G |
Ttyh3 |
tweety family member 3 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency |
ClinVar |
PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 PMID:32581362 |
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NCBI chr12:13,996,831...14,025,457
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G |
Alpk2 |
alpha-kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:61,045,717...61,161,703
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G |
Atp8b1 |
ATPase phospholipid transporting 8B1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:60,286,605...60,427,862
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|
G |
Ccbe1 |
collagen and calcium binding EGF domains 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:61,849,821...62,093,876
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G |
Cplx4 |
complexin 4 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:59,481,360...59,504,716
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|
G |
Fech |
ferrochelatase |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:57,945,123...57,978,327
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|
G |
Grp |
gastrin releasing peptide |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:59,388,679...59,402,061
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|
G |
Lman1 |
lectin, mannose-binding, 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:59,508,996...59,530,873
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|
G |
Malt1 |
MALT1 paracaspase |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency | ClinVar Annotator: match by term: Immunodeficiency 12 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23727036 PMID:24332264 PMID:25627829 PMID:25741868 PMID:27068814 PMID:28492532 PMID:35079916 More...
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NCBI chr18:61,212,290...61,266,272
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G |
Mc4r |
melanocortin 4 receptor |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:62,689,798...62,691,685
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|
G |
Mir122 |
microRNA 122 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:61,028,817...61,028,901
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|
G |
Nars1 |
asparaginyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:57,989,308...58,005,584
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|
G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:58,393,759...58,726,709
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|
G |
Pmaip1 |
phorbol-12-myristate-13-acetate-induced protein 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:62,255,970...62,262,384
|
|
G |
Rax |
retina and anterior neural fold homeobox |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:59,463,347...59,467,469
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|
G |
Sec11c |
SEC11 homolog C, signal peptidase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:61,590,905...61,607,247
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|
G |
Zfp532 |
zinc finger protein 532 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr18:59,080,082...59,203,672
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|
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G |
Angptl7 |
angiopoietin like 7 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:164,215,223...164,220,408
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|
G |
Casz1 |
castor zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:164,527,083...164,677,037
|
|
G |
Cenps |
centromere protein S |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,563,917...159,573,534
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|
G |
Ciroz |
ciliated left-right organizer protein containing ZP-N domains |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:164,358,333...164,393,758
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|
G |
Clstn1 |
calsyntenin 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:160,031,235...160,094,585
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|
G |
Cort |
cortistatin |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,560,591...159,562,032
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|
G |
Ctnnbip1 |
catenin, beta-interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,961,961...160,010,942
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|
G |
Dffa |
DNA fragmentation factor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,540,715...159,553,639
|
|
G |
Exosc10 |
exosome component 10 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:164,278,414...164,302,067
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|
G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT |
ClinVar |
PMID:5448 PMID:1303173 PMID:1924316 PMID:2572288 PMID:2836867 PMID:3393536 PMID:4359638 PMID:5641629 PMID:6015571 PMID:7959686 PMID:8860013 PMID:10734064 PMID:11852882 PMID:16356170 PMID:17018380 PMID:18677765 PMID:21153663 PMID:21479984 PMID:21931771 PMID:23006493 PMID:23057857 PMID:23144702 PMID:24033266 PMID:24505519 PMID:25201310 PMID:25741868 PMID:27040960 PMID:28492532 PMID:28756180 PMID:29300386 PMID:30045279 PMID:32387609 PMID:33636823 PMID:34620237 More...
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|
NCBI chr X:157,352,364...157,372,144
|
|
G |
Kif1b |
kinesin family member 1B |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:164,890,778...165,025,848
|
|
G |
Lzic |
leucine zipper and CTNNBIP1 domain containing |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,928,260...159,941,512
|
|
G |
Masp2 |
MBL associated serine protease 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:164,319,017...164,332,686
|
|
G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:164,167,985...164,277,438
|
|
G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,910,242...159,928,201
|
|
G |
Pex14 |
peroxisomal biogenesis factor 14 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,399,776...159,536,260
|
|
G |
Pgd |
phosphogluconate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,582,746...159,598,945
|
|
G |
Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
|
ISO |
ClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive | ClinVar Annotator: match by term: p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCY |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16984281 PMID:17576681 PMID:24136356 PMID:24165795 PMID:24610295 PMID:25352054 PMID:25741868 PMID:26437962 PMID:26732860 PMID:27426521 PMID:27555459 PMID:27577878 PMID:27697496 PMID:28104464 PMID:28167755 PMID:28190860 PMID:28414062 PMID:28428270 PMID:28492532 PMID:29330011 PMID:29921932 PMID:30138677 PMID:30499059 PMID:30639166 PMID:31031754 PMID:31045771 PMID:31537641 PMID:32084423 PMID:32581362 PMID:32681977 PMID:32888943 PMID:33225392 PMID:33995405 PMID:34039074 PMID:34115277 PMID:34692603 PMID:35189965 PMID:35753512 PMID:36703223 More...
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|
NCBI chr 5:165,377,994...165,426,620
|
|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Activated PI3K-delta syndrome |
ClinVar |
PMID:10768093 PMID:25741868 PMID:28143957 PMID:28492532 PMID:31031754 |
|
NCBI chr 2:34,612,946...34,697,660
|
|
G |
Rbp7 |
retinol binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:159,889,723...159,894,338
|
|
G |
Srm |
spermidine synthase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:164,309,002...164,312,203
|
|
G |
Tardbp |
TAR DNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:164,330,452...164,348,435
|
|
G |
Ube4b |
ubiquitination factor E4B |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,049,897...165,153,572
|
|
|
G |
Ikbkb |
inhibitor of nuclear factor kappa B kinase subunit beta |
|
ISO ISS |
OMIM:618204 ClinVar Annotator: match by term: Immunodeficiency 15a |
OMIM MouseDO ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30337470 |
|
NCBI chr16:76,021,968...76,075,717
|
|
|
G |
Ank1 |
ankyrin 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:68,876,294...69,054,963
|
|
G |
Ap3m2 |
adaptor related protein complex 3 subunit mu 2 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:69,217,526...69,237,372
|
|
G |
Chrna6 |
cholinergic receptor nicotinic alpha 6 subunit |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:64,697,741...64,704,441
|
|
G |
Chrnb3 |
cholinergic receptor nicotinic beta 3 subunit |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:64,713,438...64,751,360
|
|
G |
Dkk4 |
dickkopf WNT signaling pathway inhibitor 4 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:69,403,215...69,406,580
|
|
G |
Fnta |
farnesyltransferase, CAAX box, subunit alpha |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:66,065,131...66,083,460
|
|
G |
Hgsnat |
heparan-alpha-glucosaminide N-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:66,105,233...66,137,444
|
|
G |
Hook3 |
hook microtubule-tethering protein 3 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:72,656,929...72,751,696
|
|
G |
Ikbkb |
inhibitor of nuclear factor kappa B kinase subunit beta |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
OMIM ClinVar |
PMID:9536098 PMID:10195897 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24369075 PMID:24679846 PMID:25139357 PMID:25216719 PMID:25741868 PMID:26122175 PMID:28492532 PMID:30335863 PMID:30337470 PMID:32117824 More...
|
|
NCBI chr16:76,021,968...76,075,717
|
|
G |
Kat6a |
lysine acetyltransferase 6A |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:69,084,914...69,165,923
|
|
G |
Plat |
plasminogen activator, tissue type |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:75,943,061...76,022,037
|
|
G |
Polb |
DNA polymerase beta |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:69,379,438...69,402,710
|
|
G |
Pomk |
protein-O-mannose kinase |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:72,788,842...72,801,122
|
|
G |
Rnf170 |
ring finger protein 170 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:65,928,886...65,954,092
|
|
G |
Slc20a2 |
solute carrier family 20 member 2 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:69,460,850...69,551,418
|
|
G |
Smim19 |
small integral membrane protein 19 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:69,551,507...69,564,323
|
|
G |
Thap1 |
THAP domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:65,905,348...65,909,942
|
|
G |
Vdac3 |
voltage-dependent anion channel 3 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
|
NCBI chr16:69,434,982...69,451,473
|
|
|
G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,783,382...171,797,709
|
|
G |
Actrt2 |
actin-related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,518,470...170,519,870
|
|
G |
Agrn |
agrin |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:172,031,528...172,064,429
|
|
G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,680,597...171,682,854
|
|
G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,126,573...170,148,624
|
|
G |
Atad3a |
ATPase family, AAA domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,632,545...171,652,725
|
|
G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,866,428...171,868,564
|
|
G |
C1qtnf12 |
C1q and TNF related 12 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,833,854...171,838,229
|
|
G |
C5h1orf159 |
similar to human chromosome 1 open reading frame 159 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,983,700...172,001,373
|
|
G |
Ccdc27 |
coiled-coil domain containing 27 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:169,867,706...169,881,820
|
|
G |
Ccnl2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,698,951...171,711,037
|
|
G |
Cdk11b |
cyclin-dependent kinase 11B |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,495,042...171,521,143
|
|
G |
Cep104 |
centrosomal protein 104 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:169,817,383...169,849,681
|
|
G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,252,907...171,328,351
|
|
G |
Cptp |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,757,181...171,761,271
|
|
G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,738,911...171,750,967
|
|
G |
Faap20 |
FA core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,083,328...171,097,599
|
|
G |
Fndc10 |
fibronectin type III domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,581,960...171,584,519
|
|
G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,240,813...171,252,709
|
|
G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,357,778...171,424,489
|
|
G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,804,511...170,807,988
|
|
G |
Ints11 |
integrator complex subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,761,370...171,779,883
|
|
G |
Isg15 |
ISG15 ubiquitin-like modifier |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:172,066,369...172,067,656
|
|
G |
Klhl17 |
kelch-like family member 17 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:172,095,701...172,101,945
|
|
G |
Lrrc47 |
leucine rich repeat containing 47 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:169,852,926...169,862,598
|
|
G |
Megf6 |
multiple EGF-like-domains 6 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,020,699...170,121,557
|
|
G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,526,037...171,542,479
|
|
G |
Mir200a |
microRNA 200a |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,930,717...171,930,805
|
|
G |
Mir200b |
microRNA 200b |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,931,495...171,931,589
|
|
G |
Mir429 |
microRNA 429 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,929,682...171,929,766
|
|
G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,713,602...170,744,058
|
|
G |
Mmp23 |
matrix metallopeptidase 23 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,521,905...171,525,007
|
|
G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,928,086...170,987,219
|
|
G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,690,664...171,695,728
|
|
G |
Mxra8 |
matrix remodeling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,731,153...171,735,879
|
|
G |
Nadk |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,427,973...171,458,586
|
|
G |
Noc2l |
NOC2-like nucleolar associated transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:172,102,369...172,114,168
|
|
G |
Pank4 |
pantothenate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,807,744...170,824,478
|
|
G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,910,136...170,915,302
|
|
G |
Plch2 |
phospholipase C, eta 2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,826,543...170,885,012
|
|
G |
Plekhn1 |
pleckstrin homology domain containing N1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:172,087,524...172,095,566
|
|
G |
Prdm16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,162,275...170,486,371
|
|
G |
Prkcz |
protein kinase C, zeta |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,101,774...171,212,694
|
|
G |
Prxl2b |
peroxiredoxin like 2B |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,744,953...170,747,556
|
|
G |
Pusl1 |
pseudouridine synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,773,284...171,782,893
|
|
G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,916,643...170,929,073
|
|
G |
Rnf223 |
ring finger protein 223 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:172,005,566...172,008,456
|
|
G |
Samd11 |
sterile alpha motif domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:172,113,900...172,142,026
|
|
G |
Sdf4 |
stromal cell derived factor 4 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,868,591...171,885,827
|
|
G |
Ski |
Ski proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,995,851...171,064,957
|
|
G |
Slc35e2b |
solute carrier family 35, member E2B |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,465,222...171,493,317
|
|
G |
Smim1 |
small integral membrane protein 1 (Vel blood group) |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:169,861,751...169,867,070
|
|
G |
Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,595,919...171,625,675
|
|
G |
Tas1r3 |
taste 1 receptor member 3 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,750,937...171,754,993
|
|
G |
Tmem240 |
transmembrane protein 240 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,625,830...171,653,836
|
|
G |
Tmem52 |
transmembrane protein 52 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,330,948...171,332,704
|
|
G |
Tmem88b |
transmembrane protein 88B |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,673,319...171,676,143
|
|
G |
Tnfrsf14 |
TNF receptor superfamily member 14 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,768,413...170,776,749
|
|
G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,901,734...171,904,578
|
|
G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency | ClinVar Annotator: match by term: Immunodeficiency 16 |
OMIM ClinVar |
PMID:9536098 PMID:9683594 PMID:10862081 PMID:16199547 PMID:17576681 PMID:19492091 PMID:21031596 PMID:23897980 PMID:24033266 PMID:25741868 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,889,134...171,891,824
|
|
G |
Tp73 |
tumor protein p73 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:169,903,801...169,988,075
|
|
G |
Tprg1l |
tumor protein p63 regulated 1-like |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,004,577...170,007,784
|
|
G |
Ttc34 |
tetratricopeptide repeat domain 34 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:170,693,410...170,711,215
|
|
G |
Ttll10 |
tubulin tyrosine ligase like 10 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,912,371...171,937,733
|
|
G |
Ube2j2 |
ubiquitin-conjugating enzyme E2, J2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,815,607...171,830,037
|
|
G |
Vwa1 |
von Willebrand factor A domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:171,659,694...171,664,880
|
|
G |
Wrap73 |
WD repeat containing, antisense to TP73 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:169,988,538...170,004,071
|
|
|
G |
Abcg4 |
ATP binding cassette subfamily G member 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,508,005...53,525,314
|
|
G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,423,945...55,425,729
|
|
G |
Apoa4 |
apolipoprotein A4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,435,779...55,438,160
|
|
G |
Apoc3 |
apolipoprotein C3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:46,531,478...46,533,658
|
|
G |
Arcn1 |
archain 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,954,401...53,979,005
|
|
G |
Arhgef12 |
Rho guanine nucleotide exchange factor 12 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:52,247,047...52,373,158
|
|
G |
Atp5mg |
ATP synthase membrane subunit G |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,122,457...54,130,407
|
|
G |
Bace1 |
beta-secretase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,038,842...55,061,138
|
|
G |
Bcl9l |
BCL9 like |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,708,770...53,738,880
|
|
G |
C1qtnf5 |
C1q and TNF related 5 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,347,754...53,349,912
|
|
G |
C2cd2l |
C2CD2-like |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,544,887...53,557,127
|
|
G |
Cbl |
Cbl proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,384,656...53,468,067
|
|
G |
Cd3d |
CD3 delta subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 | ClinVar Annotator: match by term: SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE |
OMIM ClinVar |
PMID:1635567 PMID:8490660 PMID:9536098 PMID:10935641 PMID:14602880 PMID:15546002 PMID:16199547 PMID:17277165 PMID:17576681 PMID:21883749 PMID:21926461 PMID:22039266 PMID:23336327 PMID:24216686 PMID:24290291 PMID:24910257 PMID:25344390 PMID:25373860 PMID:25741868 PMID:26822028 PMID:27807805 PMID:28492532 PMID:31031743 More...
|
|
NCBI chr 8:54,184,573...54,190,112
|
|
G |
Cd3e |
CD3 epsilon subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,200,617...54,211,770
|
|
G |
Cd3g |
CD3 gamma subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,177,572...54,184,087
|
|
G |
Cenatac |
centrosomal AT-AC splicing factor |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,632,777...53,639,661
|
|
G |
Cep164 |
centrosomal protein 164 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:54,967,621...55,031,264
|
|
G |
Cxcr5 |
C-X-C motif chemokine receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,738,878...53,756,813
|
|
G |
Ddx6 |
DEAD-box helicase 6 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,827,661...53,864,538
|
|
G |
Dpagt1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,560,869...53,567,625
|
|
G |
Drc12 |
dynein regulatory complex subunit 12 homolog |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,468,344...53,481,168
|
|
G |
Dscaml1 |
DS cell adhesion molecule-like 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:54,637,054...54,954,042
|
|
G |
Foxr1 |
forkhead box R1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,657,388...53,669,424
|
|
G |
Fxyd2 |
FXYD domain-containing ion transport regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:45,712,901...45,720,032
|
|
G |
Fxyd6 |
FXYD domain-containing ion transport regulator 6 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:45,679,054...45,705,958
|
|
G |
Grik4 |
glutamate ionotropic receptor kainate type subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:42,903,043...43,331,990
|
|
G |
H2ax |
H2A.X variant histone |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,568,718...53,570,072
|
|
G |
Hinfp |
histone H4 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,525,576...53,541,101
|
|
G |
Hmbs |
hydroxymethylbilane synthase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,570,364...53,577,758
|
|
G |
Hyou1 |
hypoxia up-regulated 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,602,882...53,614,998
|
|
G |
Ift46 |
intraflagellar transport 46 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,975,085...54,000,837
|
|
G |
Il10ra |
interleukin 10 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,459,754...54,474,786
|
|
G |
Jaml |
junction adhesion molecule like |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,281,596...54,313,655
|
|
G |
Kmt2a |
lysine methyltransferase 2A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,013,547...54,089,219
|
|
G |
Mcam |
melanoma cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:44,479,391...44,487,575
|
|
G |
Mfrp |
membrane frizzled-related protein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:44,445,636...44,450,859
|
|
G |
Mpzl2 |
myelin protein zero-like 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,244,920...54,256,064
|
|
G |
Mpzl3 |
myelin protein zero-like 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,257,235...54,277,422
|
|
G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:44,101,776...44,164,863
|
|
G |
Nherf4 |
NHERF family PDZ scaffold protein 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,481,209...53,485,793
|
|
G |
Nlrx1 |
NLR family member X1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,486,866...53,503,498
|
|
G |
Oaf |
out at first homolog |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:43,594,362...43,612,334
|
|
G |
Pafah1b2 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:46,260,069...46,312,073
|
|
G |
Pcsk7 |
proprotein convertase subtilisin/kexin type 7 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,098,821...55,121,416
|
|
G |
Phldb1 |
pleckstrin homology-like domain, family B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,900,338...53,948,325
|
|
G |
Pou2f3 |
POU class 2 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:43,495,408...43,577,795
|
|
G |
Rnf214 |
ring finger protein 214 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:46,166,269...46,202,048
|
|
G |
Rnf26 |
ring finger protein 26 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:44,454,551...44,456,745
|
|
G |
Rps25 |
ribosomal protein s25 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,630,333...53,632,810
|
|
G |
Sc5d |
sterol-C5-desaturase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:42,629,649...42,641,257
|
|
G |
Scn2b |
sodium voltage-gated channel beta subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,322,383...54,334,519
|
|
G |
Scn4b |
sodium voltage-gated channel beta subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,343,873...54,359,046
|
|
G |
Sidt2 |
SID1 transmembrane family, member 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,129,091...55,146,446
|
|
G |
Sik3 |
SIK family kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,208,969...55,419,138
|
|
G |
Slc37a4 |
solute carrier family 37 member 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,619,952...53,626,110
|
|
G |
Sorl1 |
sortilin related receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:51,238,713...51,401,458
|
|
G |
Tagln |
transgelin |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:55,121,647...55,127,121
|
|
G |
Tbcel |
tubulin folding cofactor E-like |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:42,795,648...42,854,552
|
|
G |
Tecta |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:42,707,962...42,779,726
|
|
G |
Thy1 |
Thy-1 cell surface antigen |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,286,396...53,291,541
|
|
G |
Tlcd5 |
TLC domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:43,481,388...43,486,288
|
|
G |
Tmem25 |
transmembrane protein 25 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,003,907...54,009,469
|
|
G |
Tmprss13 |
transmembrane serine protease 13 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:45,625,759...45,653,943
|
|
G |
Tmprss4 |
transmembrane serine protease 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:45,475,819...45,508,409
|
|
G |
Trappc4 |
trafficking protein particle complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,626,382...53,630,042
|
|
G |
Treh |
trehalase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,886,946...53,901,113
|
|
G |
Trim29 |
tripartite motif-containing 29 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:52,579,175...52,603,919
|
|
G |
Ttc36 |
tetratricopeptide repeat domain 36 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,009,522...54,013,129
|
|
G |
Ube4a |
ubiquitination factor E4A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:54,132,799...54,174,921
|
|
G |
Upk2 |
uroplakin 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,675,994...53,677,986
|
|
G |
Usp2 |
ubiquitin specific peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:53,308,264...53,336,800
|
|
G |
Vps11 |
VPS11 core subunit of CORVET and HOPS complexes |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
|
|
NCBI chr 8:53,580,939...53,595,378
|
|
|
G |
Lck |
LCK proto-oncogene, Src family tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency |
OMIM ClinVar |
PMID:9325251 PMID:9536098 PMID:11904433 PMID:16199547 PMID:17576681 PMID:22985903 PMID:25741868 PMID:27087313 PMID:28096507 PMID:28492532 PMID:36910149 PMID:37962568 PMID:38112969 PMID:38225415 More...
|
|
NCBI chr 5:147,172,642...147,201,267
|
|
|
G |
Dop1a |
DOP1 leucine zipper like protein A |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:9536098 PMID:14981714 PMID:17548465 PMID:17576681 PMID:24033266 PMID:24589341 PMID:24698316 PMID:24931394 PMID:25741868 PMID:28492532 PMID:33098103 PMID:35040011 More...
|
|
NCBI chr 8:87,415,266...87,517,935
|
|
G |
Me1 |
malic enzyme 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 |
|
NCBI chr 8:96,429,057...96,540,244
|
|
G |
Pgm3 |
phosphoglucomutase 3 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 |
OMIM ClinVar |
PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 PMID:17548465 PMID:17576681 PMID:24033266 PMID:24589341 PMID:24698316 PMID:24931394 PMID:25741868 PMID:26409661 PMID:26482871 PMID:28492532 PMID:28543917 PMID:29967067 PMID:30157810 PMID:31980526 PMID:32506361 PMID:33098103 PMID:35040011 More...
|
|
NCBI chr 8:87,518,317...87,536,021
|
|
G |
Prss35 |
serine protease 35 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
|
NCBI chr 8:87,714,449...87,731,009
|
|
G |
Rwdd2a |
RWD domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:17548465 PMID:24589341 PMID:24931394 PMID:28492532 |
|
NCBI chr 8:87,536,153...87,539,301
|
|
G |
Snap91 |
synaptosome associated protein 91 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
|
NCBI chr 8:87,738,056...87,852,690
|
|
G |
Tpbg |
trophoblast glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
|
NCBI chr 8:86,793,953...86,797,324
|
|
G |
Ube3d |
ubiquitin protein ligase E3D |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
|
NCBI chr 8:87,245,503...87,413,104
|
|
|
G |
Ctps1 |
CTP synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24870241 PMID:25741868 PMID:27638562 PMID:28492532 PMID:30899265 PMID:32161190 More...
|
|
NCBI chr 5:134,125,022...134,154,155
|
|
G |
Scmh1 |
Scm polycomb group protein homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:139,276,352...139,401,118
|
|
G |
Slfnl1 |
schlafen-like 1 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:134,117,634...134,122,105
|
|
|
G |
Clxn |
calaxin |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr11:85,977,231...85,996,561
|
|
G |
Mcm4 |
minichromosome maintenance complex component 4 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr11:98,762,599...98,776,300
|
|
G |
Prkdc |
protein kinase, DNA-activated, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: PRKDC-related condition | ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19075392 PMID:23722905 PMID:25640679 PMID:25741868 PMID:25842288 PMID:26122175 PMID:28492532 PMID:29987844 PMID:30121298 PMID:30778343 PMID:37580814 More...
|
|
NCBI chr11:98,544,952...98,762,499
|
|
G |
Snai2 |
snail family transcriptional repressor 2 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr11:99,686,934...99,690,349
|
|
G |
Ube2v2 |
ubiquitin conjugating enzyme E2 V2 |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr11:98,808,681...98,842,583
|
|
|
G |
Fendrr |
FOXF1 adjacent non-coding developmental regulatory RNA |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 32B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:49,127,225...49,152,780
|
|
G |
Foxc2 |
forkhead box C2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 32B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:66,094,718...66,097,420
|
|
G |
Foxf1 |
forkhead box F1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 32B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:49,153,949...49,157,741
|
|
G |
Irf8 |
interferon regulatory factor 8 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 32B |
OMIM ClinVar |
PMID:6279813 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21524210 PMID:24435047 PMID:25122610 PMID:25741868 PMID:26038974 PMID:27893462 PMID:28492532 PMID:30840779 PMID:32499645 PMID:32901917 PMID:35753512 More...
|
|
NCBI chr19:48,790,581...48,812,363
|
|
G |
Mthfsd |
methenyltetrahydrofolate synthetase domain containing |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 32B |
ClinVar |
PMID:28492532 |
|
NCBI chr19:49,164,266...49,178,233
|
|
|
G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:151,428,334...151,450,115
|
|
G |
Arhgap4 |
Rho GTPase activating protein 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:151,636,071...151,651,528
|
|
G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:151,216,483...151,289,069
|
|
G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,231,243...157,238,323
|
|
G |
Avpr2 |
arginine vasopressin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,785,009...156,787,477
|
|
G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:151,397,567...151,429,666
|
|
G |
Bgn |
biglycan |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:151,197,296...151,209,458
|
|
G |
Brcc3 |
BRCA1/BRCA2-containing complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:2,073,927...2,076,469
|
|
G |
Ccnq |
cyclin Q |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr10:63,646,532...63,647,695
|
|
G |
Clic2 |
chloride intracellular channel 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr20:154,630...169,655
|
|
G |
Cmc4 |
C-X9-C motif containing 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr18:125,308...132,163
|
|
G |
Ctag2 |
cancer/testis antigen 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:143,531,907...143,533,201
|
|
G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
|
|
G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:152,056,942...152,065,518
|
|
G |
Dusp9 |
dual specificity phosphatase 9 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:151,351,897...151,355,822
|
|
G |
Emd |
emerin |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:152,038,990...152,042,190
|
|
G |
F8 |
coagulation factor VIII |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr18:140,848...172,330
|
|
G |
F8a1 |
coagulation factor VIII-associated 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:150,957,357...150,958,871
|
|
G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,317,993...157,326,640
|
|
G |
Fam50a |
family with sequence similarity 50, member A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,246,533...157,253,650
|
|
G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,159,051...157,185,559
|
|
G |
Fundc2 |
FUN14 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr18:128,473...138,232
|
|
G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,352,364...157,372,144
|
|
G |
Gdi1 |
GDP dissociation inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,238,900...157,245,562
|
|
G |
H2ab3 |
H2A.B variant histone 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:86,566,994...86,567,568
|
|
G |
Haus7 |
HAUS augmin-like complex, subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:151,154,979...151,174,441
|
|
G |
Hcfc1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,839,100...156,864,132
|
|
G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,666,573...156,675,482
|
|
G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8169255 PMID:11047757 PMID:11179023 PMID:11484156 PMID:11590134 PMID:12459250 PMID:15229184 PMID:15356572 PMID:15577852 PMID:15833888 PMID:16532398 PMID:16818673 PMID:16950813 PMID:18179816 PMID:18222329 PMID:20529958 PMID:25068423 PMID:25741868 PMID:28993958 PMID:29534156 PMID:30422821 PMID:31965418 PMID:33224153 More...
|
|
NCBI chr X:157,358,279...157,397,563
|
|
G |
Il9r |
interleukin 9 receptor |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr10:15,431,706...15,444,144
|
|
G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,919,927...156,929,825
|
|
G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:151,597,270...151,623,776
|
|
G |
Lage3 |
L antigen family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:152,138,209...152,139,632
|
|
G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,932,481...156,995,981
|
|
G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
|
|
G |
Mtcp1 |
mature T-cell proliferation 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr18:142,416...144,482
|
|
G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,807,378...156,812,632
|
|
G |
Opn1mw |
opsin 1, medium wave sensitive |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,056,355...157,076,716
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|
G |
Pdzd4 |
PDZ domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:151,530,390...151,560,779
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|
G |
Plxna3 |
plexin A3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:152,115,699...152,131,608
|
|
G |
Plxnb3 |
plexin B3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,645,505...156,660,011
|
|
G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,520,751...156,524,828
|
|
G |
Renbp |
renin binding protein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,812,785...156,821,860
|
|
G |
Rpl10 |
ribosomal protein L10 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,205,850...157,208,057
|
|
G |
Slc10a3 |
solute carrier family 10, member 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:152,154,757...152,158,563
|
|
G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:151,384,675...151,393,979
|
|
G |
Spry3 |
sprouty RTK signaling antagonist 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr12:16,663,188...16,673,124
|
|
G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,661,888...156,666,537
|
|
G |
Ssr4 |
signal sequence receptor subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:151,524,191...151,528,218
|
|
G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:152,065,539...152,076,178
|
|
G |
Tex28 |
testis expressed 28 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,076,824...157,110,988
|
|
G |
Tktl1 |
transketolase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,105,455...157,138,510
|
|
G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr20:91,234...138,942
|
|
G |
Trex2 |
three prime repair exonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:151,151,862...151,153,470
|
|
G |
Ubl4a |
ubiquitin-like 4A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:152,151,242...152,154,094
|
|
G |
Vamp7 |
vesicle-associated membrane protein 7 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
NCBI chr12:16,728,486...16,764,261
|
|
G |
Vbp1 |
VHL binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
|
|
|
|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 36 |
OMIM ClinVar |
PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:11135494 PMID:12514365 PMID:18384141 PMID:18414213 PMID:22351933 PMID:23810378 PMID:23810379 PMID:23810382 PMID:23980586 PMID:24033266 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26529633 PMID:26974159 PMID:27076228 PMID:27116393 PMID:27221134 PMID:27693481 PMID:27766312 PMID:28104464 PMID:28302518 PMID:28492532 PMID:28632845 PMID:29178053 PMID:34008892 More...
|
|
NCBI chr 2:34,612,946...34,697,660
|
|
|
G |
Bcl10 |
BCL10, immune signaling adaptor |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 37 |
OMIM ClinVar |
PMID:9536098 PMID:9989495 PMID:10380920 PMID:10408400 PMID:17576681 PMID:24033266 PMID:25365219 PMID:25741868 PMID:28492532 PMID:32008135 More...
|
|
NCBI chr 2:237,501,181...237,510,821
|
|
|
G |
C10h5orf58 |
similar to human chromosome 5 open reading frame 58 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:18,690,958...18,697,224
|
|
G |
Dock2 |
dedicator of cytokinesis 2 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency | ClinVar Annotator: match by term: Immunodeficiency 40 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26083206 PMID:28492532 PMID:29204803 More...
|
|
NCBI chr10:19,331,412...19,748,987
|
|
G |
Foxi1 |
forkhead box I1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:18,806,292...18,810,231
|
|
G |
Gabrp |
gamma-aminobutyric acid type A receptor subunit pi |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:18,143,031...18,169,595
|
|
G |
Insyn2b |
inhibitory synaptic factor family member 2B |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:25741868 PMID:26083206 PMID:28492532 |
|
NCBI chr10:18,916,721...19,023,859
|
|
G |
Kcnip1 |
potassium voltage-gated channel interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:18,219,519...18,588,833
|
|
G |
Kcnmb1 |
potassium calcium-activated channel subfamily M regulatory beta subunit 1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:19,062,014...19,119,005
|
|
G |
Lcp2 |
lymphocyte cytosolic protein 2 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:19,146,846...19,193,750
|
|
G |
Mir103a1 |
microRNA 103a-1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:20,244,412...20,244,497
|
|
G |
Pank3 |
pantothenate kinase 3 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:20,733,191...20,757,017
|
|
G |
Rars1 |
arginyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:20,270,744...20,295,192
|
|
G |
Slit3 |
slit guidance ligand 3 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:20,075,929...20,660,704
|
|
G |
Spdl1 |
spindle apparatus coiled-coil protein 1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:19,269,125...19,294,213
|
|
G |
Wwc1 |
WW and C2 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:26083206 PMID:28492532 |
|
NCBI chr10:20,300,735...20,454,393
|
|
|
G |
Fbh1 |
F-box DNA helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr17:66,749,506...66,787,590
|
|
G |
Il15ra |
interleukin 15 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr17:66,802,300...66,831,973
|
|
G |
Il2ra |
interleukin 2 receptor subunit alpha |
susceptibility |
ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:9096364 PMID:9536098 PMID:16199547 PMID:17196245 PMID:17576681 PMID:23261300 PMID:23416241 PMID:24033266 PMID:24116927 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr17:66,849,974...66,898,665
|
|
|
G |
Tfrc |
transferrin receptor |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 46 | ClinVar Annotator: match by term: TFRC-related combined immunodeficiency | ClinVar Annotator: match by term: TFRC-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26642240 PMID:28492532 |
|
NCBI chr11:81,668,478...81,690,318
|
|
|
G |
Zap70 |
zeta chain of T cell receptor associated protein kinase 70 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency | ClinVar Annotator: match by term: Immunodeficiency 48 | ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency |
OMIM ClinVar |
PMID:8124727 PMID:8202712 PMID:8202713 PMID:9536098 PMID:10574909 PMID:11123350 PMID:11412303 PMID:16199547 PMID:17576681 PMID:20301777 PMID:21441961 PMID:24033266 PMID:24164480 PMID:25627829 PMID:25741868 PMID:26783323 PMID:27448562 PMID:28124082 PMID:28216435 PMID:28492532 PMID:29684201 PMID:30778343 PMID:33184721 PMID:35503492 PMID:37313400 More...
|
|
NCBI chr 9:46,485,605...46,507,552
|
|
|
G |
Bcl11b |
BCL11 transcription factor B |
|
ISO |
ClinVar Annotator: match by term: BCL11B-related BAFopathy | ClinVar Annotator: match by term: Immunodeficiency 49 |
OMIM ClinVar |
PMID:25627829 PMID:25741868 PMID:27959755 PMID:28492532 PMID:29985992 PMID:32185379 PMID:34580403 More...
|
|
NCBI chr 6:126,834,531...126,927,720
|
|
|
G |
Msn |
moesin |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to moesin deficiency | ClinVar Annotator: match by term: MSN-related condition |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:27405666 PMID:28378256 PMID:28492532 PMID:29556235 More...
|
|
NCBI chr X:60,996,043...61,064,011
|
|
|
G |
Relb |
RELB proto-oncogene, NF-kB subunit |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 53 | ClinVar Annotator: match by term: RELB-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26385063 PMID:28492532 |
|
NCBI chr 1:88,385,717...88,413,380
|
|
|
G |
Gins1 |
GINS complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to GINS1 deficiency | ClinVar Annotator: match by term: GINS1-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 55 |
OMIM ClinVar |
PMID:25741868 PMID:28414293 PMID:28492532 PMID:31630891 |
|
NCBI chr 3:160,184,920...160,206,334
|
|
|
G |
Il21r |
interleukin 21 receptor |
|
ISO |
ClinVar Annotator: match by term: IL21R immunodeficiency |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22235133 PMID:23440042 PMID:24033266 PMID:25398835 PMID:25741868 PMID:26193622 PMID:28492532 PMID:33929673 More...
|
|
NCBI chr 1:180,168,028...180,195,690
|
|
|
G |
Acd |
ACD, shelterin complex subunit and telomerase recruitment factor |
|
ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,586,739...33,589,481
|
|
G |
Carmil2 |
capping protein regulator and myosin 1 linker 2 |
|
ISO |
ClinVar Annotator: match by term: CARMIL2-related condition | ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:27647349 PMID:27896283 PMID:28112205 PMID:28492532 PMID:29479355 More...
|
|
NCBI chr19:33,571,255...33,586,783
|
|
|
G |
Hyou1 |
hypoxia up-regulated 1 |
|
ISO |
ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality | ClinVar Annotator: match by term: HYOU1-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27913302 PMID:28492532 |
|
NCBI chr 8:53,602,882...53,614,998
|
|
|
G |
Bach2 |
BTB domain and CNC homolog 2 |
|
ISO |
ClinVar Annotator: match by term: BACH2-related condition | ClinVar Annotator: match by term: Immunodeficiency 60 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28530713 |
|
NCBI chr 5:46,632,338...46,982,676
|
|