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G |
Adar |
adenosine deaminase, RNA-specific |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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G |
Arpc1b |
actin related protein 2/3 complex, subunit 1B |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:25741868 PMID:32499645 |
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NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
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G |
Bcl11b |
BCL11 transcription factor B |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:25627829 PMID:27959755 |
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NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224
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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 immunodeficiency |
ClinVar |
PMID:25741868 PMID:28112205 |
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NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965
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G |
Cd27 |
CD27 molecule |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
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G |
Icoslg |
inducible T-cell co-stimulator ligand |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:25741868 PMID:30498080 |
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NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703
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G |
Myh7 |
myosin heavy chain 7 |
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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:24033266 PMID:24038877 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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G |
Tfrc |
transferrin receptor |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:26642240 |
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NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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G |
Zap70 |
zeta chain of T cell receptor associated protein kinase 70 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency |
ClinVar |
PMID:20301777 PMID:25627829 PMID:25741868 PMID:26783323 PMID:28492532 |
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NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700
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G |
Ada |
adenosine deaminase |
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ISO |
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 ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
OMIM ClinVar |
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1680289 PMID:1696926 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: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: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: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:26255240 PMID:26376800 PMID:26467025 PMID:27095930 PMID:27129325 PMID:27484032 PMID:28266921 PMID:28492532 PMID:29744787 PMID:30290665 PMID:31031743 PMID:31319225 PMID:31589898 PMID:31681265 PMID:31781678 PMID:31858364 PMID:32135276 PMID:32245326 PMID:32307643 PMID:32445296 More...
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NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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G |
Cd3g |
CD3 gamma subunit of T-cell receptor complex |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 |
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NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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G |
Dock8 |
dedicator of cytokinesis 8 |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:14722525 PMID:16199547 PMID:18060736 PMID:19776401 PMID:24033266 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26744459 PMID:28492532 PMID:31980526 More...
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NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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G |
Jak3 |
Janus kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:14615376 PMID:17433830 PMID:17644747 PMID:19203666 PMID:21184155 PMID:23384681 PMID:25146434 PMID:25741868 PMID:28492532 PMID:30697212 PMID:33365035 More...
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NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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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:24033266 PMID:24038877 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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G |
Rag1 |
recombination activating 1 |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:8810255 PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:16276422 PMID:17075247 PMID:17572155 PMID:17890453 PMID:19178939 PMID:21664875 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:25516070 PMID:25741868 PMID:26457731 PMID:26476733 PMID:26596586 PMID:27301863 PMID:28492532 PMID:28769923 PMID:28783691 PMID:30290665 PMID:30778343 PMID:30877075 PMID:33365035 PMID:33628209 More...
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NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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G |
Arcn1 |
archain 1 |
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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 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
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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...
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NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559
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G |
Bcl9l |
BCL9 like |
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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 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
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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...
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NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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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:26822028 PMID:28492532 More...
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NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022
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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...
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NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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G |
Cenatac |
centrosomal AT-AC splicing factor |
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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 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
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G |
Cxcr5 |
C-X-C motif chemokine receptor 5 |
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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 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
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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...
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NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
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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...
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NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
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G |
Foxr1 |
forkhead box R1 |
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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 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
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G |
H2ax |
H2A.X variant histone |
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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 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
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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...
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NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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G |
Hyou1 |
hypoxia up-regulated 1 |
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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 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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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...
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NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
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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...
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NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
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G |
Jaml |
junction adhesion molecule like |
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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 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
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G |
Kmt2a |
lysine methyltransferase 2A |
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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 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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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...
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NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
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G |
Mpzl3 |
myelin protein zero-like 3 |
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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 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
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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...
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NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522
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G |
Rps25 |
ribosomal protein s25 |
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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 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
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G |
Scn2b |
sodium voltage-gated channel beta subunit 2 |
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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 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
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G |
Scn4b |
sodium voltage-gated channel beta subunit 4 |
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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 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
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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...
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NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
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G |
Tmem25 |
transmembrane protein 25 |
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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 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
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G |
Tmprss4 |
transmembrane serine protease 4 |
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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 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
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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...
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NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
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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...
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NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
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G |
Ttc36 |
tetratricopeptide repeat domain 36 |
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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 8:45,112,737...45,116,345
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G |
Ube4a |
ubiquitination factor E4A |
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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 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
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G |
Upk2 |
uroplakin 2 |
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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 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
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Vps11 |
VPS11 core subunit of CORVET and HOPS complexes |
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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 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
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G |
Adgrg4 |
adhesion G protein-coupled receptor G4 |
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ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
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NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449
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G |
Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
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ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
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NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
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G |
Brs3 |
bombesin receptor subtype 3 |
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ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
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NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
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G |
Cd40lg |
CD40 ligand |
disease_progression |
ISO |
ClinVar Annotator: match by term: Hyper IgM immunodeficiency, X-linked | ClinVar Annotator: match by term: IMMUNODEFICIENCY 3 | ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:mutations:exon, intron:multiple DNA:missense mutation:exon:p.T169N (526T>A) (human) |
ClinVar RGD CTD OMIM |
PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 PMID:7679801 PMID:7717401 PMID:7907793 PMID:7916370 PMID:8094231 PMID:8550833 PMID:8589998 PMID:9150729 PMID:9536098 PMID:9605317 PMID:9746782 PMID:10651941 PMID:14641931 PMID:15319456 PMID:15358621 PMID:15611226 PMID:15623492 PMID:15924140 PMID:16019685 PMID:16169277 PMID:16509032 PMID:17146684 PMID:17351759 PMID:17576681 PMID:18805740 PMID:18955577 PMID:19575287 PMID:20301576 PMID:20652909 PMID:21465648 PMID:21543760 PMID:21841160 PMID:22193914 PMID:22750225 PMID:23622016 PMID:24123890 PMID:24402618 PMID:24929972 PMID:25741868 PMID:27189378 PMID:27484504 PMID:28492532 PMID:29077208 PMID:29525420 PMID:35572607 PMID:36478253 PMID:21841160 PMID:17553565 PMID:15358621 PMID:16508335 More...
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RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Fhl1 |
four and a half LIM domains 1 |
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ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
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NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
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Gpr101 |
G protein-coupled receptor 101 |
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ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
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NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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G |
Htatsf1 |
HIV-1 Tat specific factor 1 |
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ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
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NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
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G |
Map7d3 |
MAP7 domain containing 3 |
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ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
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NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841
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G |
Rbmx |
RNA binding motif protein, X-linked |
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ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
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NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
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G |
Slc9a6 |
solute carrier family 9 member A6 |
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ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
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NCBI chr X:134,430,588...134,486,747
Ensembl chr X:134,420,756...134,485,375
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G |
Vgll1 |
vestigial-like family member 1 |
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ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
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NCBI chr X:134,979,657...134,996,007
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G |
Zic3 |
Zic family member 3 |
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ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
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NCBI chr X:136,123,662...136,134,295
Ensembl chr X:136,124,026...136,134,746
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G |
Iftap |
intraflagellar transport associated protein |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas |
ClinVar |
PMID:28492532 |
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NCBI chr 3:87,812,068...87,906,517
Ensembl chr 3:87,817,408...87,906,547
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G |
Rag1 |
recombination activating 1 |
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ISO |
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas |
OMIM ClinVar |
PMID:290284 PMID:8810255 PMID:9630231 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:14670978 PMID:15908971 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19011808 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19912631 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21502542 PMID:21624848 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24033266 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24331380 PMID:24406074 PMID:24418478 PMID:24472623 PMID:25516070 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26596586 PMID:27301863 PMID:27484032 PMID:27609655 PMID:27713031 PMID:28083621 PMID:28216420 PMID:28492532 PMID:28769923 PMID:28783691 PMID:29104089 PMID:29107076 PMID:30046960 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30877075 PMID:31313695 PMID:31503426 PMID:31980526 PMID:32445296 PMID:32447396 PMID:33193364 PMID:33365035 PMID:33628209 More...
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NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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G |
Rag2 |
recombination activating 2 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas |
OMIM ClinVar |
PMID:8810255 PMID:9630231 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:12200379 PMID:15025726 PMID:16960852 PMID:17572155 PMID:18025461 PMID:18463379 PMID:18682256 PMID:19178939 PMID:19333736 PMID:19414857 PMID:20234091 PMID:20603253 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21625022 PMID:21664875 PMID:22295088 PMID:22841008 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:24174341 PMID:24331380 PMID:24481607 PMID:24996264 PMID:25109802 PMID:25333069 PMID:25707801 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26692406 PMID:26915675 PMID:26996199 PMID:28492532 PMID:28600779 PMID:28747913 PMID:28769923 PMID:29051008 PMID:29658452 PMID:29772310 PMID:30305145 PMID:30307608 PMID:30778343 PMID:31058115 PMID:31334206 PMID:31388879 PMID:31838659 PMID:32445296 PMID:32581362 PMID:32655540 PMID:32888943 PMID:33628209 More...
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NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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G |
Mthfd1 |
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
OMIM ClinVar |
PMID:11004530 PMID:15633187 PMID:16315005 PMID:16552426 PMID:17894836 PMID:18277167 PMID:21813566 PMID:23402911 PMID:24033266 PMID:25633902 PMID:25741868 PMID:27707659 PMID:28492532 PMID:31589614 PMID:32414565 More...
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NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
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G |
Acp5 |
acid phosphatase 5, tartrate resistant |
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ISO |
ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation |
OMIM 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:28492532 PMID:28740483 More...
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NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929
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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
Ensembl chr 2:175,138,403...175,178,282
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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
Ensembl chr19:33,574,257...33,586,965
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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:28492532 |
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NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
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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:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Il2rg |
interleukin 2 receptor subunit gamma |
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ISO IMP |
ClinVar Annotator: match by term: Combined immunodeficiency, X-linked |
OMIM ClinVar RGD |
PMID:7557965 PMID:7632950 PMID:7668284 PMID:7883965 PMID:9049783 PMID:9058718 PMID:9399950 PMID:9633906 PMID:10792291 PMID:10794430 PMID:10794431 PMID:14966353 PMID:16199547 PMID:16227049 PMID:18641513 PMID:20301584 PMID:21184155 PMID:23683512 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
Ensembl chr X:66,392,542...66,399,823
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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:24033266 PMID:24038877 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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G |
Aldoa |
aldolase, fructose-bisphosphate A |
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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 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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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
Ensembl chr 6:72,939,788...72,941,709
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G |
Apbb2 |
amyloid beta precursor protein binding family B member 2 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:41,557,918...41,878,622
Ensembl chr14:41,557,972...41,877,495
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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:28492532 |
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NCBI chr 1:181,552,974...181,556,842
Ensembl chr 1:181,552,884...181,556,090
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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 1:181,291,777...181,292,836
Ensembl chr 1:181,291,398...181,292,676
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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:28492532 |
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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:28492532 |
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NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
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G |
Chrna9 |
cholinergic receptor nicotinic alpha 9 subunit |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,235,218...42,241,939
Ensembl chr14:42,235,226...42,242,192
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G |
Coro1a |
coronin 1A |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18836449 PMID:19097825 PMID:23522482 PMID:24033266 PMID:25073507 PMID:25741868 PMID:27577878 PMID:28492532 PMID:30899265 More...
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NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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G |
Doc2a |
double C2 domain alpha |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030
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G |
Fam114a1 |
family with sequence similarity 114, member A1 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:43,275,693...43,346,227
Ensembl chr14:43,275,701...43,346,174
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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:18836449 PMID:25073507 PMID:28492532 |
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NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
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G |
Hirip3 |
HIRA interacting protein 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,472,056...181,475,082
Ensembl chr 1:181,472,056...181,475,079
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G |
Ino80e |
INO80 complex subunit E |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469
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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:28492532 |
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NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881
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G |
Kif22 |
kinesin family member 22 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
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G |
Klb |
klotho beta |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
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G |
Klhl5 |
kelch-like family member 5 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:43,144,254...43,206,192
Ensembl chr14:43,144,257...43,184,238
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G |
Lias |
lipoic acid synthetase |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
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G |
Limch1 |
LIM and calponin homology domains 1 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:41,112,579...41,425,185
Ensembl chr14:41,114,803...41,425,191
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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:25741868 |
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NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
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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:18836449 PMID:25073507 PMID:28492532 |
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NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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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:28492532 |
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NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
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G |
Mvp |
major vault protein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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G |
N4bp2 |
NEDD4 binding protein 2 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,342,690...42,479,861
Ensembl chr14:42,409,510...42,483,960
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G |
Nsun7 |
NOP2/Sun RNA methyltransferase family member 7 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:41,877,500...41,935,238
Ensembl chr14:41,879,293...41,934,949
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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:28492532 |
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NCBI chr 1:181,622,708...181,624,996
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G |
Pds5a |
PDS5 cohesin associated factor A |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,551,653...42,651,074
Ensembl chr14:42,552,647...42,648,669
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G |
Phox2b |
paired-like homeobox 2b |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
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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:18836449 PMID:25073507 PMID:28492532 |
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NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
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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:28492532 |
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NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
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G |
Rbm47 |
RNA binding motif protein 47 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,053,290...42,191,572
Ensembl chr14:42,154,142...42,189,431
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G |
Rfc1 |
replication factor C subunit 1 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
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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 chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
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G |
Rpl9 |
ribosomal protein L9 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,893,945...42,897,140
Ensembl chr14:42,893,942...42,897,136
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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:28492532 |
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NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456
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G |
Smim14 |
small integral membrane protein 14 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,783,361...42,829,762
Ensembl chr14:42,783,332...42,829,760
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G |
Taok2 |
TAO kinase 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613
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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:18836449 PMID:25073507 PMID:28492532 |
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NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
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G |
Tlcd3b |
TLC domain containing 3B |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
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G |
Tlr1 |
toll-like receptor 1 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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G |
Tlr10 |
toll-like receptor 10 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:43,400,843...43,414,056
Ensembl chr14:43,406,217...43,413,917
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G |
Tlr6 |
toll-like receptor 6 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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G |
Tmem156 |
transmembrane protein 156 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:43,221,464...43,252,453
Ensembl chr14:43,223,381...43,252,449
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G |
Tmem219 |
transmembrane protein 219 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,496,194...181,509,258
Ensembl chr 1:181,496,192...181,534,472
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G |
Ube2k |
ubiquitin-conjugating enzyme E2K |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,658,016...42,718,899
Ensembl chr14:42,658,016...42,718,630
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G |
Uchl1 |
ubiquitin C-terminal hydrolase L1 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:41,485,033...41,495,590
Ensembl chr14:41,485,031...41,495,590
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G |
Ugdh |
UDP-glucose 6-dehydrogenase |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Ypel3 |
yippee-like 3 |
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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 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705
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G |
Lig4 |
DNA ligase 4 |
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ISO |
ClinVar Annotator: match by term: DNA ligase IV deficiency | ClinVar Annotator: match by term: LIG4-Related Disorders 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 RGD |
PMID:10395545 PMID:11349135 PMID:11779494 PMID:12471202 PMID:16088910 PMID:16358361 PMID:16358631 PMID:16585603 PMID:18845326 PMID:21664875 PMID:23372718 PMID:24027040 PMID:24033266 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:26151233 PMID:26762768 PMID:27063650 PMID:27612988 PMID:27855655 PMID:27893162 PMID:28039949 PMID:28492532 PMID:28866308 PMID:29146883 PMID:30719430 PMID:31604460 PMID:32534991 PMID:34630384 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
Ensembl chr16:79,518,312...79,527,040
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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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 DNA:mutation:splicing site: |
OMIM ClinVar 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:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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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 |
OMIM ClinVar |
PMID:19420366 PMID:20876309 PMID:21427704 PMID:22190180 PMID:24033266 PMID:24621671 PMID:25741868 PMID:26560041 PMID:28492532 More...
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NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
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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:28492532 |
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NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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G |
Il7r |
interleukin 7 receptor |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 104 |
OMIM ClinVar |
PMID:9536098 PMID:9843216 PMID:10899029 PMID:11023514 PMID:15661025 PMID:16199547 PMID:16492442 PMID:17201233 PMID:17576681 PMID:17827065 PMID:18255337 PMID:18403192 PMID:18641513 PMID:21664875 PMID:24033266 PMID:24578017 PMID:24728327 PMID:24759676 PMID:25046553 PMID:25741868 PMID:26123418 PMID:27577878 PMID:27807805 PMID:27833609 PMID:28436970 PMID:28492532 PMID:30778343 PMID:32576985 PMID:32765500 PMID:35418989 More...
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NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...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 |
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 More...
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NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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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 |
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NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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G |
Rag2 |
recombination activating 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 104 |
ClinVar |
PMID:21131235 PMID:25741868 |
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NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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G |
Ptprc |
protein tyrosine phosphatase, receptor type, C |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 105 |
OMIM ClinVar |
PMID:9068311 PMID:10700239 PMID:11145714 PMID:22689986 PMID:28492532 |
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NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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G |
Amz1 |
archaelysin family metallopeptidase 1 |
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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 |
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NCBI chr12:13,886,533...13,924,275
Ensembl chr12:13,891,123...13,909,783
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G |
Brat1 |
BRCA1-associated ATM activator 1 |
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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 |
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NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
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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:17576681 PMID:18323416 PMID:23129749 PMID:23374270 PMID:23561803 PMID:24033266 PMID:24728327 PMID:25352053 PMID:25741868 PMID:25930198 PMID:26289640 PMID:28492532 PMID:30170123 PMID:33202260 More...
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NCBI chr12:13,620,979...13,758,115
Ensembl chr12:13,621,087...13,758,112
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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 |
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NCBI chr12:13,805,580...13,886,255
Ensembl chr12:13,805,698...13,886,255
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G |
Iqce |
IQ motif containing E |
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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 |
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NCBI chr12:13,943,290...13,982,708
Ensembl chr12:13,943,487...13,982,693
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G |
Lfng |
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
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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 |
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NCBI chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008
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G |
Ttyh3 |
tweety family member 3 |
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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 |
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NCBI chr12:13,996,831...14,025,457
Ensembl chr12:13,997,045...14,025,459
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G |
Alpk2 |
alpha-kinase 2 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:58,775,603...58,906,150
Ensembl chr18:58,775,605...58,906,258
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G |
Atp8b1 |
ATPase phospholipid transporting 8B1 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:58,016,382...58,157,213
Ensembl chr18:58,018,268...58,157,396
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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:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400
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G |
Cplx4 |
complexin 4 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:59,481,360...59,504,716
Ensembl chr18:59,481,986...59,497,778
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G |
Fech |
ferrochelatase |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:57,945,123...57,978,327
Ensembl chr18:57,945,122...57,979,348
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G |
Grp |
gastrin releasing peptide |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061
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G |
Lman1 |
lectin, mannose-binding, 1 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:59,508,996...59,530,873
Ensembl chr18:59,508,996...59,530,851
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G |
Malt1 |
MALT1 paracaspase |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
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 chr18:58,942,282...58,996,318
Ensembl chr18:58,942,299...58,994,260
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G |
Mc4r |
melanocortin 4 receptor |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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G |
Mir122 |
microRNA 122 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:58,758,703...58,758,787
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G |
Nars1 |
asparaginyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:57,989,308...58,005,639
Ensembl chr18:57,989,308...58,005,622
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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:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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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:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:59,986,187...59,990,174
Ensembl chr18:59,986,017...59,992,429
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G |
Rax |
retina and anterior neural fold homeobox |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:59,463,737...59,467,431
Ensembl chr18:59,463,737...59,467,431
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G |
Sec11c |
SEC11 homolog C, signal peptidase complex subunit |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:59,320,932...59,337,272
Ensembl chr18:59,320,884...59,337,364
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G |
Zfp532 |
zinc finger protein 532 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency |
ClinVar |
PMID:23727036 PMID:25627829 PMID:28492532 |
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NCBI chr18:59,080,082...59,203,672
Ensembl chr18:59,092,789...59,203,666
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G |
Agtrap |
angiotensin II receptor-associated protein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036
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G |
Angptl7 |
angiopoietin like 7 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,932,094...158,937,597
Ensembl chr 5:158,932,794...158,937,324
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G |
Car6 |
carbonic anhydrase 6 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:160,658,104...160,676,644
Ensembl chr 5:160,658,105...160,676,644
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G |
Casz1 |
castor zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400
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G |
Cenps |
centromere protein S |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,563,917...159,573,534
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G |
Clcn6 |
chloride voltage-gated channel 6 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
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G |
Clstn1 |
calsyntenin 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:160,031,235...160,094,585
Ensembl chr 5:160,031,308...160,094,583
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G |
Cort |
cortistatin |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,560,591...159,562,032
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G |
Ctnnbip1 |
catenin, beta-interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,961,961...160,010,942
Ensembl chr 5:159,961,928...160,010,939
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G |
Dffa |
DNA fragmentation factor subunit alpha |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,540,718...159,553,639
Ensembl chr 5:159,540,715...159,553,633
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G |
Disp3 |
dispatched RND transporter family member 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,672,015...158,720,806
Ensembl chr 5:158,672,015...158,720,806
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G |
Draxin |
dorsal inhibitory axon guidance protein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,530,149...158,563,457
Ensembl chr 5:158,530,342...158,564,483
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G |
Eno1 |
enolase 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
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G |
Exosc10 |
exosome component 10 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,995,318...159,018,946
Ensembl chr 5:158,995,313...159,018,940
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G |
Fbxo2 |
F-box protein 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,592,926...158,598,355
Ensembl chr 5:158,592,925...158,598,355
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G |
Fbxo44 |
F-box protein 44 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,583,363...158,592,510
Ensembl chr 5:158,583,366...158,592,363
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G |
Fbxo6 |
F-box protein 6 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,576,729...158,582,520
Ensembl chr 5:158,576,759...158,582,525
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G |
Gpr157 |
G protein-coupled receptor 157 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:160,550,703...160,566,432
Ensembl chr 5:160,550,713...160,566,432
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G |
H6pd |
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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G |
Kiaa2013 |
KIAA2013 homolog |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:158,371,955...158,378,195
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G |
Kif1b |
kinesin family member 1B |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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G |
LOC102551309 |
uncharacterized LOC102551309 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,495,514...158,505,671
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G |
LOC691354 |
hypothetical protein LOC691354 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
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G |
Lzic |
leucine zipper and CTNNBIP1 domain containing |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,928,260...159,941,512
Ensembl chr 5:159,920,439...159,939,685
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G |
Mad2l2 |
mitotic arrest deficient 2 like 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693
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G |
Masp2 |
MBL associated serine protease 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
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G |
Mfn2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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G |
Miip |
migration and invasion inhibitory protein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,292,510...158,299,531
Ensembl chr 5:158,292,511...158,299,694
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G |
Mir34a |
microRNA 34a |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
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G |
Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Mtor |
mechanistic target of rapamycin kinase |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
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G |
Nppa |
natriuretic peptide A |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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G |
Nppb |
natriuretic peptide B |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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G |
Pex14 |
peroxisomal biogenesis factor 14 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272
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G |
Pgd |
phosphogluconate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,582,746...159,598,945
Ensembl chr 5:159,561,271...159,742,778
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G |
Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
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ISO |
ClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive |
OMIM ClinVar |
PMID:9536098 PMID:16984281 PMID:17576681 PMID:24136356 PMID:24165795 PMID:24610295 PMID:25352054 PMID:25741868 PMID:26437962 PMID:26732860 PMID:27426521 PMID:28166811 PMID:28167755 PMID:28492532 PMID:29921932 PMID:30138677 PMID:30499059 PMID:30639166 PMID:31031754 PMID:32084423 PMID:32581362 PMID:32681977 More...
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NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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G |
Plod1 |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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G |
Rbp7 |
retinol binding protein 7 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,889,723...159,894,338
Ensembl chr 5:159,889,723...159,894,339
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G |
Rere |
arginine-glutamic acid dipeptide repeats |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677
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G |
Slc25a33 |
solute carrier family 25 member 33 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:160,195,040...160,219,961
Ensembl chr 5:160,195,042...160,219,961
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G |
Slc2a5 |
solute carrier family 2 member 5 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:160,583,055...160,609,994
Ensembl chr 5:160,583,234...160,611,106
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G |
Slc2a7 |
solute carrier family 2 member 7 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:160,624,793...160,643,994
Ensembl chr 5:160,624,793...160,643,514
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G |
Spsb1 |
splA/ryanodine receptor domain and SOCS box containing 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:160,358,292...160,418,541
Ensembl chr 5:160,358,308...160,418,468
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G |
Srm |
spermidine synthase |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,025,919...159,029,076
Ensembl chr 5:159,025,873...159,029,405
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G |
Tardbp |
TAR DNA binding protein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
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G |
Tmem201 |
transmembrane protein 201 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:160,166,240...160,188,874
Ensembl chr 5:160,166,427...160,188,843
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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G |
Tnfrsf8 |
TNF receptor superfamily member 8 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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G |
Ube4b |
ubiquitination factor E4B |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,766,829...159,870,509
Ensembl chr 5:159,766,829...159,870,509
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G |
Ubiad1 |
UbiA prenyltransferase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271
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G |
Vps13d |
vacuolar protein sorting 13 homolog D |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
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G |
Ikbkb |
inhibitor of nuclear factor kappa B kinase subunit beta |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 15a |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30337470 |
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NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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G |
Ap3m2 |
adaptor related protein complex 3 subunit mu 2 |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
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NCBI chr16:69,217,526...69,237,372
Ensembl chr16:69,217,633...69,235,431
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G |
Chrna6 |
cholinergic receptor nicotinic alpha 6 subunit |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
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NCBI chr16:64,697,741...64,704,441
Ensembl chr16:64,697,741...64,704,441
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G |
Chrnb3 |
cholinergic receptor nicotinic beta 3 subunit |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
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NCBI chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360
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G |
Dkk4 |
dickkopf WNT signaling pathway inhibitor 4 |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
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NCBI chr16:69,402,989...69,406,580
Ensembl chr16:69,402,989...69,406,580
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G |
Fnta |
farnesyltransferase, CAAX box, alpha |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460
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G |
Hgsnat |
heparan-alpha-glucosaminide N-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138
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G |
Hook3 |
hook microtubule-tethering protein 3 |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
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NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
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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:17576681 PMID:24033266 PMID:24369075 PMID:24679846 PMID:25139357 PMID:25216719 PMID:25741868 PMID:26122175 PMID:28492532 PMID:30335863 PMID:32117824 More...
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NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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G |
Kat6a |
lysine acetyltransferase 6A |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
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NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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G |
Plat |
plasminogen activator, tissue type |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
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NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
Polb |
DNA polymerase beta |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
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NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812
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G |
Pomk |
protein-O-mannose kinase |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
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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
Ensembl chr16:65,928,895...65,954,083
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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
Ensembl chr16:69,460,462...69,521,711
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G |
Smim19 |
small integral membrane protein 19 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B |
ClinVar |
PMID:28492532 |
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NCBI chr16:69,551,470...69,565,450
Ensembl chr16:69,553,916...69,567,245
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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
Ensembl chr16:65,904,230...65,909,942
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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
Ensembl chr16:69,435,005...69,451,471
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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:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
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G |
Actrt2 |
actin-related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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G |
Agrn |
agrin |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
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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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
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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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
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|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
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|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
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|
G |
Ccnl2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
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G |
Cdk11b |
cyclin-dependent kinase 11B |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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G |
Cep104 |
centrosomal protein 104 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
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|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
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|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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|
G |
Ints11 |
integrator complex subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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|
G |
Isg15 |
ISG15 ubiquitin-like modifier |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
|
|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
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|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
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|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
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|
G |
Mir200a |
microRNA 200a |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,648,494...166,648,582
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|
G |
Mir200b |
microRNA 200b |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
|
|
G |
Mir429 |
microRNA 429 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
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|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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|
G |
Mmp23 |
matrix metallopeptidase 23 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
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|
G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
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|
G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
|
|
G |
Mxra8 |
matrix remodeling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
|
|
G |
Nadk |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
|
|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,820,075...166,831,951
Ensembl chr 5:166,820,161...166,831,949
|
|
G |
Pank4 |
pantothenate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
|
|
G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
|
|
G |
Plch2 |
phospholipase C, eta 2 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
|
|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
|
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G |
Prdm16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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|
G |
Prkcz |
protein kinase C, zeta |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
|
|
G |
Prxl2b |
peroxiredoxin like 2B |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,462,610...165,465,213
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|
G |
Pusl1 |
pseudouridine synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611
|
|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
|
|
G |
Rnf223 |
ring finger protein 223 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,720,408...166,726,236
Ensembl chr 5:166,724,984...166,725,751
|
|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,831,663...166,859,805
Ensembl chr 5:166,831,663...166,850,009
|
|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
|
|
G |
Ski |
Ski proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
|
|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
|
|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:164,579,327...164,584,650
|
|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
|
|
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:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
|
|
G |
Tmem240 |
transmembrane protein 240 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
|
|
G |
Tmem52 |
transmembrane protein 52 |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,048,667...166,050,423
Ensembl chr 5:166,046,565...166,050,433
|
|
G |
Tmem88b |
transmembrane protein 88B |
|
ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
|
|
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:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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Tnfrsf18 |
TNF receptor superfamily member 18 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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Tnfrsf4 |
TNF receptor superfamily member 4 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
OMIM ClinVar |
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:21031596 PMID:23897980 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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Tp73 |
tumor protein p73 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Tprg1l |
tumor protein p63 regulated 1-like |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
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Ttc34 |
tetratricopeptide repeat domain 34 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
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G |
Ttll10 |
tubulin tyrosine ligase like 10 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
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G |
Ube2j2 |
ubiquitin-conjugating enzyme E2, J2 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
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Vwa1 |
von Willebrand factor A domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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G |
Wrap73 |
WD repeat containing, antisense to TP73 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
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NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
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Arcn1 |
archain 1 |
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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...
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NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
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Atp5mg |
ATP synthase membrane subunit g |
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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...
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NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559
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Bcl9l |
BCL9 like |
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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...
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NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
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Cd3d |
CD3 delta subunit of T-cell receptor complex |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 19 |
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:23336327 PMID:24216686 PMID:24290291 PMID:24910257 PMID:25344390 PMID:25373860 PMID:25741868 PMID:26822028 PMID:28492532 PMID:31031743 More...
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NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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Cd3e |
CD3 epsilon subunit of T-cell receptor complex |
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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...
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NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022
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Cd3g |
CD3 gamma subunit of T-cell receptor complex |
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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...
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NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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Cenatac |
centrosomal AT-AC splicing factor |
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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...
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NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
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Cxcr5 |
C-X-C motif chemokine receptor 5 |
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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...
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NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
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Ddx6 |
DEAD-box helicase 6 |
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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...
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NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
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Dpagt1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
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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...
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NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
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Foxr1 |
forkhead box R1 |
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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...
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NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
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H2ax |
H2A.X variant histone |
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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...
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NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
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G |
Hmbs |
hydroxymethylbilane synthase |
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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...
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NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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Hyou1 |
hypoxia up-regulated 1 |
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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...
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NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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Ift46 |
intraflagellar transport 46 |
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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...
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NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
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Il10ra |
interleukin 10 receptor subunit alpha |
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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...
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NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
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Jaml |
junction adhesion molecule like |
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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...
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NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
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Kmt2a |
lysine methyltransferase 2A |
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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...
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NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Mpzl2 |
myelin protein zero-like 2 |
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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...
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NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
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G |
Mpzl3 |
myelin protein zero-like 3 |
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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...
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NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
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Phldb1 |
pleckstrin homology-like domain, family B, member 1 |
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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...
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NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522
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Rps25 |
ribosomal protein s25 |
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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...
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NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
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G |
Scn2b |
sodium voltage-gated channel beta subunit 2 |
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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...
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NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
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G |
Scn4b |
sodium voltage-gated channel beta subunit 4 |
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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...
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NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
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G |
Slc37a4 |
solute carrier family 37 member 4 |
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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...
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NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
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Tmem25 |
transmembrane protein 25 |
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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...
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NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
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G |
Tmprss4 |
transmembrane serine protease 4 |
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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...
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NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
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G |
Trappc4 |
trafficking protein particle complex subunit 4 |
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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...
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NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
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G |
Treh |
trehalase |
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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...
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NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
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G |
Ttc36 |
tetratricopeptide repeat domain 36 |
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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...
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NCBI chr 8:45,112,737...45,116,345
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G |
Ube4a |
ubiquitination factor E4A |
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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...
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NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
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G |
Upk2 |
uroplakin 2 |
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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...
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NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
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Vps11 |
VPS11 core subunit of CORVET and HOPS complexes |
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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...
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NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
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Lck |
LCK proto-oncogene, Src family tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency |
OMIM ClinVar |
PMID:22985903 PMID:25741868 PMID:27087313 PMID:28492532 |
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NCBI chr 5:141,888,319...141,916,992
Ensembl chr 5:141,888,326...141,903,794
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Dop1a |
DOP1 leucine zipper like protein A |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:14981714 PMID:24033266 PMID:24589341 PMID:24698316 PMID:24931394 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353
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G |
Me1 |
malic enzyme 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
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NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304
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G |
Pgm3 |
phosphoglucomutase 3 |
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ISO |
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:26482871 PMID:28492532 More...
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NCBI chr 8:87,517,931...87,536,034
Ensembl chr 8:87,517,701...87,536,022
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G |
Prss35 |
serine protease 35 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
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NCBI chr 8:87,714,449...87,731,009
Ensembl chr 8:87,714,966...87,731,009
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G |
Rwdd2a |
RWD domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
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NCBI chr 8:87,536,153...87,539,301
Ensembl chr 8:87,536,176...87,539,300
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G |
Snap91 |
synaptosome associated protein 91 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
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NCBI chr 8:87,738,056...87,852,690
Ensembl chr 8:87,738,824...87,852,367
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G |
Tpbg |
trophoblast glycoprotein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
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NCBI chr 8:86,793,953...86,797,324
Ensembl chr 8:86,793,749...86,797,741
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G |
Ube3d |
ubiquitin protein ligase E3D |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 23 |
ClinVar |
PMID:24931394 |
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NCBI chr 8:87,245,503...87,413,104
Ensembl chr 8:87,245,589...87,413,057
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G |
Ctps1 |
CTP synthase 1 |
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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:32161190 More...
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NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180
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G |
Scmh1 |
Scm polycomb group protein homolog 1 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 5:133,991,167...134,115,893
Ensembl chr 5:133,990,520...134,122,105
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G |
Slfnl1 |
schlafen-like 1 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 5:134,117,634...134,122,105
Ensembl chr 5:133,990,520...134,122,105
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G |
Clxn |
calaxin |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr11:85,977,231...85,996,561
Ensembl chr11:85,983,304...85,996,538
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G |
Mcm4 |
minichromosome maintenance complex component 4 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr11:85,258,443...85,272,144
Ensembl chr11:85,258,443...85,272,144
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G |
Prkdc |
protein kinase, DNA-activated, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 26 without neurologic abnormalities | ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:19075392 PMID:23722905 PMID:25640679 PMID:25741868 PMID:26122175 PMID:28492532 PMID:29987844 PMID:30778343 More...
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NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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G |
Snai2 |
snail family transcriptional repressor 2 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr11:86,183,800...86,186,109
Ensembl chr11:86,181,909...86,186,200
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G |
Ube2v2 |
ubiquitin conjugating enzyme E2 V2 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr11:85,304,528...85,338,430
Ensembl chr11:85,304,526...85,336,369
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G |
Irf8 |
interferon regulatory factor 8 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Immunodeficiency 32B |
CTD ClinVar OMIM |
PMID:6279813 PMID:9536098 PMID:17576681 PMID:21524210 PMID:25122610 PMID:25741868 PMID:26038974 PMID:27893462 PMID:28492532 More...
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NCBI chr19:48,790,483...48,812,363
Ensembl chr19:48,790,588...48,811,829
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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G |
Arhgap4 |
Rho GTPase activating protein 4 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
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G |
Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,633,501...151,636,000
Ensembl chr X:151,633,522...151,635,989
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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G |
Bgn |
biglycan |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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G |
Brcc3 |
BRCA1/BRCA2-containing complex, subunit 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
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G |
Ccnq |
cyclin Q |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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G |
Clic2 |
chloride intracellular channel 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
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G |
Cmc4 |
C-X9-C motif containing 4 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
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G |
Ctag2 |
cancer/testis antigen 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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G |
Dusp9 |
dual specificity phosphatase 9 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
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G |
Emd |
emerin |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
F8a1 |
coagulation factor VIII-associated 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
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G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
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G |
Fam50a |
family with sequence similarity 50, member A |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Fundc2 |
FUN14 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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G |
H2ab3 |
H2A.B variant histone 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:82,362,633...82,362,983
Ensembl chr X:82,362,633...82,362,983
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G |
Haus7 |
HAUS augmin-like complex, subunit 7 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
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G |
Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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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: Immunodeficiency 33 | ClinVar Annotator: match by term: Immunodeficiency without anhidrotic ectodermal dysplasia |
OMIM ClinVar |
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:25068423 PMID:25741868 PMID:28993958 PMID:29534156 PMID:30422821 PMID:31965418 PMID:33224153 More...
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NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Il9r |
interleukin 9 receptor |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr10:15,431,706...15,444,144
Ensembl chr10:15,431,706...15,441,990
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Lage3 |
L antigen family, member 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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G |
Mtcp1 |
mature T-cell proliferation 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr18:126,189...130,123
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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G |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,905,096...151,925,322
Ensembl chr X:151,905,096...151,925,388
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G |
Pdzd4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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G |
Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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G |
Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
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G |
Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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G |
Rpl10 |
ribosomal protein L10 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,054,547...152,056,757
Ensembl chr X:152,054,452...152,056,761
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G |
Slc10a3 |
solute carrier family 10, member 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
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G |
Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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G |
Spry3 |
sprouty RTK signaling antagonist 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr12:16,663,188...16,673,124
Ensembl chr12:16,663,389...16,672,531
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G |
Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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G |
Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
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G |
Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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G |
Tktl1 |
transketolase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
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G |
Trex2 |
three prime repair exonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
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G |
Ubl4a |
ubiquitin-like 4A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
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G |
Vamp7 |
vesicle-associated membrane protein 7 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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NCBI chr12:16,728,477...16,764,261
Ensembl chr12:16,728,524...16,764,097
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G |
Vbp1 |
VHL binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 33 |
ClinVar |
PMID:25741868 |
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
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:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26529633 PMID:27076228 PMID:27116393 PMID:27221134 PMID:27693481 PMID:28302518 PMID:28492532 PMID:34008892 More...
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NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
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G |
Bcl10 |
BCL10, immune signaling adaptor |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 37 |
OMIM ClinVar |
PMID:24033266 PMID:25365219 PMID:25741868 PMID:28492532 PMID:32008135 |
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NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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G |
C10h5orf58 |
similar to human chromosome 5 open reading frame 58 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:18,690,958...18,697,224
Ensembl chr10:18,688,847...18,697,220
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G |
Dock2 |
dedicator of cytokinesis 2 |
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ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26083206 PMID:28492532 More...
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NCBI chr10:18,827,237...19,244,823
Ensembl chr10:18,827,239...19,244,808
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G |
Foxi1 |
forkhead box I1 |
|
ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231
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G |
Gabrp |
gamma-aminobutyric acid type A receptor subunit pi |
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ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:18,143,031...18,169,595
Ensembl chr10:18,143,038...18,169,516
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G |
Insyn2b |
inhibitory synaptic factor family member 2B |
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ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:18,916,721...19,023,859
Ensembl chr10:19,003,131...19,022,139
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G |
Kcnip1 |
potassium voltage-gated channel interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:18,219,519...18,588,833
Ensembl chr10:18,219,519...18,589,045
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G |
Kcnmb1 |
potassium calcium-activated channel subfamily M regulatory beta subunit 1 |
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ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798
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G |
Lcp2 |
lymphocyte cytosolic protein 2 |
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ISO |
ClinVar Annotator: match by term: DOCK2 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:18,642,600...18,689,562
Ensembl chr10:18,642,658...18,689,559
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G |
Ankrd16 |
ankyrin repeat domain 16 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr17:66,735,325...66,748,533
Ensembl chr17:66,737,261...66,748,533
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G |
Asb13 |
ankyrin repeat and SOCS box-containing 13 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr17:66,564,653...66,583,365
Ensembl chr17:66,562,434...66,583,337
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G |
Calml3 |
calmodulin-like 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr17:66,419,844...66,423,083
Ensembl chr17:66,419,882...66,423,175
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G |
Calml5 |
calmodulin-like 5 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr17:66,394,433...66,395,390
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G |
Fbh1 |
F-box DNA helicase 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr17:66,749,506...66,787,590
Ensembl chr17:66,749,534...66,787,590
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G |
Gdi2 |
GDP dissociation inhibitor 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366
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G |
Il15ra |
interleukin 15 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr17:66,802,300...66,831,973
Ensembl chr17:66,802,334...66,832,278
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency |
OMIM ClinVar |
PMID:9096364 PMID:9536098 PMID:16199547 PMID:17196245 PMID:17576681 PMID:23261300 PMID:23416241 PMID:24033266 PMID:24116927 PMID:25741868 PMID:28492532 More...
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NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Net1 |
neuroepithelial cell transforming 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441
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G |
Tasor2 |
transcription activation suppressor family member 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr17:66,583,554...66,650,127
Ensembl chr17:66,594,908...66,649,135
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G |
Tubal3 |
tubulin, alpha-like 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr17:66,323,733...66,332,423
Ensembl chr17:66,323,733...66,335,355
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G |
Ucn3 |
urocortin 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr17:66,309,952...66,315,571
Ensembl chr17:66,309,371...66,315,990
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G |
Tfrc |
transferrin receptor |
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ISO |
ClinVar Annotator: match by term: TFRC-related combined immunodeficiency |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26642240 PMID:28492532 |
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NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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G |
Zap70 |
zeta chain of T cell receptor associated protein kinase 70 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency | ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency |
OMIM ClinVar |
PMID:8124727 PMID:8202712 PMID:8202713 PMID:9536098 PMID:11412303 PMID:16199547 PMID:17576681 PMID:20301777 PMID:21441961 PMID:24033266 PMID:25627829 PMID:25741868 PMID:26783323 PMID:28124082 PMID:28216435 PMID:28492532 PMID:30778343 More...
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NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700
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G |
Msn |
moesin |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to moesin deficiency |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:27405666 PMID:28378256 PMID:28492532 PMID:29556235 More...
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NCBI chr X:60,996,043...61,064,011
Ensembl chr X:60,995,951...61,065,628
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G |
Relb |
RELB proto-oncogene, NF-kB subunit |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 53 |
OMIM ClinVar |
PMID:25741868 PMID:26385063 PMID:28492532 |
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NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507
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G |
Gins1 |
GINS complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to GINS1 deficiency |
OMIM ClinVar |
PMID:25741868 PMID:28414293 PMID:28492532 PMID:31630891 |
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NCBI chr 3:139,724,513...139,745,930
Ensembl chr 3:139,724,490...139,745,936
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G |
Il21r |
interleukin 21 receptor |
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ISO |
ClinVar Annotator: match by term: IL21R immunodeficiency |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22235133 PMID:23440042 PMID:24033266 PMID:25398835 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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G |
Acd |
ACD, shelterin complex subunit and telomerase recruitment factor |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461
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G |
Carmil2 |
capping protein regulator and myosin 1 linker 2 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency |
OMIM ClinVar |
PMID:25741868 PMID:27647349 PMID:27896283 PMID:28112205 PMID:28492532 PMID:29479355 More...
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NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965
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G |
Hyou1 |
hypoxia up-regulated 1 |
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ISO |
ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality |
OMIM ClinVar |
PMID:25741868 PMID:27913302 PMID:28492532 |
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NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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G |
Bach2 |
BTB domain and CNC homolog 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 60 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28530713 |
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NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
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G |
Rasgrp1 |
RAS guanyl releasing protein 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 64 |
OMIM ClinVar |
PMID:25741868 PMID:27776107 PMID:28492532 PMID:28822832 PMID:29155103 PMID:29282224 More...
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NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056
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G |
Ivns1abp |
influenza virus NS1A binding protein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 70 |
ClinVar OMIM |
PMID:32499645 |
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NCBI chr13:63,427,040...63,446,701
Ensembl chr13:63,427,041...63,446,701
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G |
Arpc1b |
actin related protein 2/3 complex, subunit 1B |
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ISO |
ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28368018 PMID:28492532 PMID:29127144 PMID:30254128 PMID:32499645 PMID:33679784 More...
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NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
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G |
Nckap1l |
NCK associated protein 1 like |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 72 with autoinflammation |
OMIM ClinVar |
PMID:25741868 PMID:32646852 PMID:32647003 |
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NCBI chr 7:134,577,443...134,622,934
Ensembl chr 7:134,577,482...134,622,934
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G |
Rac2 |
Rac family small GTPase 2 |
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ISO |
ClinVar Annotator: match by term: Neutrophil immunodeficiency syndrome |
OMIM ClinVar |
PMID:10758162 PMID:10961859 PMID:21167572 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30723080 More...
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NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
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G |
Rac2 |
Rac family small GTPase 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30654050 PMID:30723080 PMID:31071452 |
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NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
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G |
Rac2 |
Rac family small GTPase 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia |
OMIM ClinVar |
PMID:25512081 PMID:25741868 PMID:28492532 |
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NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
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G |
Orai1 |
ORAI calcium release-activated calcium modulator 1 |
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ISO |
ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency |
OMIM ClinVar |
PMID:7531512 PMID:7798233 PMID:8814256 PMID:16582901 PMID:18187424 PMID:20004786 PMID:23447534 PMID:23613525 PMID:24033266 PMID:25227914 PMID:25741868 PMID:26070885 PMID:26138675 PMID:28492532 PMID:29184031 PMID:31036819 More...
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NCBI chr12:33,533,151...33,548,361
Ensembl chr12:33,534,344...33,548,405
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G |
Cd40 |
CD40 molecule |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 |
OMIM ClinVar |
PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 PMID:15307939 PMID:15731360 PMID:17344890 PMID:17949264 PMID:18446002 PMID:20702779 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Extl3 |
exostosin-like glycosyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:28132690 PMID:28148688 PMID:28492532 |
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NCBI chr15:39,294,033...39,384,086
Ensembl chr15:39,293,605...39,338,898
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G |
Fermt3 |
FERM domain containing kindlin 3 |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
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G |
Itgb2 |
integrin subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leukocyte adhesion deficiency DNA:deletion, nonsense mutations:exons:1622_1657del, 2200G>T (human) DNA:mutations:multiple DNA:mutation:exon:p.R188X(human) DNA:mutations:cds:p.D231H, G284S (human) |
CTD ClinVar RGD |
PMID:9653089 PMID:1968911 PMID:14512306 PMID:20549317 PMID:21103413 PMID:10886250 More...
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RGD:1600220, RGD:6482225, RGD:6482224, RGD:6482223, RGD:6482222 |
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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G |
Abcg1 |
ATP binding cassette subfamily G member 1 |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948
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G |
Adarb1 |
adenosine deaminase, RNA-specific, B1 |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
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G |
Agpat3 |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358
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G |
Aire |
autoimmune regulator |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
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G |
C2cd2 |
C2 calcium-dependent domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739
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G |
Cbs |
cystathionine beta synthase |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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G |
Cfap410 |
cilia and flagella associated protein 410 |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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G |
Col6a1 |
collagen type VI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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G |
Col6a2 |
collagen type VI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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G |
Cryaa |
crystallin, alpha A |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
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G |
Cstb |
cystatin B |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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G |
Dnmt3l |
DNA methyltransferase 3 like |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,614,933...10,629,516
Ensembl chr20:10,614,934...10,629,516
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G |
Fermt3 |
FERM domain containing kindlin 3 |
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ISO |
DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) |
RGD |
PMID:19064721 |
RGD:11352306 |
NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
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G |
Ftcd |
formimidoyltransferase cyclodeaminase |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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G |
Gatd3a |
glutamine amidotransferase class 1 domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885
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G |
Hsf2bp |
heat shock transcription factor 2 binding protein |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242
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G |
Icoslg |
inducible T-cell co-stimulator ligand |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703
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G |
Itgb2 |
integrin subunit beta 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 DNA:polymorphisms:multiple (human) |
OMIM ClinVar RGD |
PMID:1346132 PMID:1346613 PMID:1347532 PMID:1590804 PMID:1694220 PMID:1968911 PMID:6142255 PMID:7143170 PMID:7686755 PMID:7705401 PMID:9536098 PMID:9884339 PMID:10886250 PMID:11703376 PMID:11882363 PMID:12488604 PMID:16199547 PMID:16595236 PMID:17576681 PMID:17875809 PMID:18675632 PMID:20549317 PMID:21103413 PMID:22134107 PMID:24033266 PMID:25514840 PMID:25703682 PMID:25741868 PMID:28492532 PMID:30412664 PMID:33391282 PMID:20549317 More...
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RGD:6482224 |
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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G |
Krtap10-1 |
keratin associated protein 10-1 |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,855,181...10,864,362
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G |
Krtap10-9 |
keratin associated protein 10-9 |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526
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G |
Krtap12-1 |
keratin associated protein 12-1 |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,917,578...10,917,910
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G |
Krtap12-2 |
keratin associated protein 12-2 |
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ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,904,257...10,904,751
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G |
Krtap12-4 |
keratin associated protein 12-4 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,910,203...10,911,281
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G |
LOC690460 |
similar to keratin associated protein 10-7 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,888,588...10,896,525
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G |
Lrrc3 |
leucine rich repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067
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G |
Lss |
lanosterol synthase |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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G |
Mcm3ap |
minichromosome maintenance complex component 3 associated protein |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165
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G |
Ndufv3 |
NADH:ubiquinone oxidoreductase subunit V3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074
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G |
Pcbp3 |
poly(rC) binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210
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G |
Pcnt |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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G |
Pde9a |
phosphodiesterase 9A |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
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G |
Pfkl |
phosphofructokinase, liver type |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315
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G |
Pknox1 |
PBX/knotted 1 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727
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G |
Pofut2 |
protein O-fucosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743
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G |
Prdm15 |
PR/SET domain 15 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207
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G |
Pttg1ip |
PTTG1 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316
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G |
Pwp2 |
PWP2, small subunit processome component |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640
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G |
RGD1564149 |
similar to Protein C21orf58 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017
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G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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G |
Rrp1 |
ribosomal RNA processing 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144
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G |
Rrp1b |
ribosomal RNA processing 1B |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928
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|
G |
Rsph1 |
radial spoke head component 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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G |
Sik1 |
salt-inducible kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
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G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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|
G |
Slc37a1 |
solute carrier family 37 member 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892
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G |
Slx9 |
SLX9 ribosome biogenesis factor |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521
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|
G |
Spatc1l |
spermatogenesis and centriole associated 1-like |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301
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|
G |
Sumo3 |
small ubiquitin-like modifier 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877 Ensembl chr20:11,007,148...11,020,877
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G |
Tff1 |
trefoil factor 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
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G |
Tff2 |
trefoil factor 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
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G |
Tff3 |
trefoil factor 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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|
G |
Tmprss3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
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G |
Trappc10 |
trafficking protein particle complex subunit 10 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
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G |
Trpm2 |
transient receptor potential cation channel, subfamily M, member 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181
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G |
Tspear |
thrombospondin-type laminin G domain and EAR repeats |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
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G |
U2af1 |
U2 small nuclear RNA auxiliary factor 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
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G |
Ubash3a |
ubiquitin associated and SH3 domain containing, A |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224
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|
G |
Ube2g2 |
ubiquitin-conjugating enzyme E2G 2 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447
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G |
Umodl1 |
uromodulin-like 1 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146
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G |
Wdr4 |
WD repeat domain 4 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
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G |
Ybey |
ybeY metalloendoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713
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G |
Zbtb21 |
zinc finger and BTB domain containing 21 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr11:37,311,860...37,327,040
Ensembl chr11:37,312,378...37,326,996
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G |
Fermt3 |
FERM domain containing kindlin 3 |
|
ISO |
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:12511588 PMID:17576681 PMID:18779414 PMID:19064721 PMID:19234460 PMID:19234463 PMID:20357244 PMID:21441448 PMID:22134107 PMID:24033266 PMID:25741868 PMID:28492532 PMID:19234463 More...
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RGD:11352305 |
NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
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G |
Rasgrp2 |
RAS guanyl releasing protein 2 |
|
ISS |
OMIM:612840 |
MouseDO |
|
|
NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993
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G |
Psmb8 |
proteasome 20S subunit beta 8 |
|
ISO |
ClinVar Annotator: match by term: MHC class I deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
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G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
|
ISO |
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: MHC class I deficiency |
OMIM ClinVar |
PMID:1570316 PMID:3891604 PMID:8640228 PMID:9536098 PMID:10074494 PMID:10074495 PMID:16299152 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
|
ISO |
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency |
OMIM ClinVar |
PMID:1570316 PMID:7517574 PMID:9536098 PMID:10560675 PMID:11529920 PMID:12067308 PMID:16199547 PMID:17576681 PMID:23662797 PMID:24033266 PMID:25741868 PMID:26122175 PMID:28492532 More...
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NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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G |
Tapbp |
TAP binding protein |
|
ISO |
ClinVar Annotator: match by term: MHC class I deficiency |
OMIM ClinVar |
PMID:12149238 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181
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G |
Abat |
4-aminobutyrate aminotransferase |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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G |
Adam15 |
ADAM metallopeptidase domain 15 |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:174,754,631...174,765,136
Ensembl chr 2:174,754,633...174,765,113
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G |
Adamtsl4 |
ADAMTS-like 4 |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
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G |
Adar |
adenosine deaminase, RNA-specific |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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G |
Anp32e |
acidic nuclear phosphoprotein 32 family member E |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:183,472,600...183,489,057
Ensembl chr 2:183,472,609...183,489,054
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G |
Anxa9 |
annexin A9 |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:182,873,185...182,884,501
Ensembl chr 2:182,872,929...182,883,374
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G |
Aph1a |
aph-1 homolog A, gamma secretase subunit |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:183,437,676...183,443,113
Ensembl chr 2:183,438,434...183,441,955
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G |
Aqp10 |
aquaporin 10 |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:175,402,609...175,407,677
Ensembl chr 2:175,403,263...175,406,815
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G |
Arhgef2 |
Rho/Rac guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
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G |
Arnt |
aryl hydrocarbon receptor nuclear translocator |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
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G |
Ash1l |
ASH1 like histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
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G |
Atf7ip2 |
activating transcription factor 7 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:5,403,099...5,445,989
Ensembl chr10:5,403,105...5,446,142
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G |
Atp8b2 |
ATPase phospholipid transporting 8B2 |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:175,378,514...175,402,265
Ensembl chr 2:175,378,517...175,401,883
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G |
Bcan |
brevican |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
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G |
Bglap |
bone gamma-carboxyglutamate protein |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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G |
Bnipl |
BCL2 interacting protein like |
|
ISO |
ClinVar Annotator: match by term: MHC class II deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:182,818,593...182,830,421
Ensembl chr 2:182,818,595...182,828,588
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