RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | blood protein disease |
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Accession: | DOID:620
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browse the term
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Definition: | Hematologic diseases caused by structural or functional defects of BLOOD PROTEINS. |
Synonyms: | exact_synonym: | blood protein disorder; blood protein disorders |
| primary_id: | MESH:D001796 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Alb |
albumin |
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ISO |
DNA:missense mutation:cds:p.D293G,K198I(human) |
RGD |
PMID:20603593 |
RGD:11035265 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Serpine1 |
serpin family E member 1 |
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IEP |
associated with Sepsis;protein:increased activity:lung (rat) |
RGD |
PMID:18182560 |
RGD:11080962 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
associated with sickle cell anemia; |
RGD |
PMID:23590899 |
RGD:10450838 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
associated with Anemia, Sickle Cell;DNA:deletion:: (human) |
RGD |
PMID:23590899 |
RGD:10450838 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hbb |
hemoglobin subunit beta |
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ISO |
DNA:SNPs, haplotypes |
RGD |
PMID:23952145 |
RGD:10449047 |
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
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Hmox1 |
heme oxygenase 1 |
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ISO |
associated with Anemia, Sickle Cell;DNA:repeat:promoter |
RGD |
PMID:22966170 |
RGD:10755560 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Nos3 |
nitric oxide synthase 3 |
susceptibility |
ISO |
associated with Anemia, Sickle Cell;DNA:repeats:intron: associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human) |
RGD |
PMID:25263931 PMID:14687036 |
RGD:11533931, RGD:11533934 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Vegfa |
vascular endothelial growth factor A |
susceptibility |
ISO |
associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human) associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human) |
RGD |
PMID:25130874 PMID:22925497 |
RGD:11075233, RGD:11075235 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Acot8 |
acyl-CoA thioesterase 8 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,531,192...153,542,851
Ensembl chr 3:153,531,193...153,542,851
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Ada |
adenosine deaminase |
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ISO ISS |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency OMIM:102700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
OMIM ClinVar MouseDO CTD |
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1401934 PMID:1680289 PMID:1696926 PMID:1925539 PMID:1974554 PMID:2166947 PMID:2651461 PMID:2758612 PMID:2773932 PMID:2783588 PMID:3007108 PMID:3182793 PMID:3366897 PMID:3475710 PMID:3684597 PMID:3839802 PMID:6208479 PMID:7554472 PMID:7599635 PMID:7691348 PMID:8023852 PMID:8031011 PMID:8051429 PMID:8120281 PMID:8178821 PMID:8227344 PMID:8258146 PMID:8299233 PMID:8401541 PMID:8433873 PMID:8589684 PMID:8614422 PMID:8673127 PMID:9108404 PMID:9225964 PMID:9361033 PMID:9414266 PMID:9536098 PMID:9616253 PMID:9758612 PMID:9806422 PMID:10200056 PMID:11067872 PMID:11157502 PMID:11160213 PMID:11313286 PMID:11354825 PMID:11807006 PMID:14499267 PMID:16199547 PMID:16276484 PMID:16825284 PMID:17001642 PMID:17181544 PMID:17185467 PMID:17576681 PMID:18952502 PMID:19179314 PMID:19665771 PMID:19830125 PMID:20039061 PMID:20544538 PMID:21228398 PMID:21410451 PMID:21624848 PMID:21664875 PMID:21865538 PMID:22409989 PMID:22447032 PMID:22764473 PMID:22968453 PMID:23260757 PMID:23348723 PMID:24033266 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25875700 PMID:25954555 PMID:26255240 PMID:26376800 PMID:26467025 PMID:27095930 PMID:27129325 PMID:27484032 PMID:27872624 PMID:28266921 PMID:28346229 PMID:28492532 PMID:28747913 PMID:29744787 PMID:30290665 PMID:30778343 PMID:30858051 PMID:31031743 PMID:31319225 PMID:31589898 PMID:31681265 PMID:31781678 PMID:31858364 PMID:32135276 PMID:32245326 PMID:32307643 PMID:32445296 PMID:32888943 PMID:33628209 PMID:33975924 PMID:34502390 PMID:34975878 PMID:35729272 PMID:36685585 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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Ccn5 |
cellular communication network factor 5 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,491,247...152,502,639
Ensembl chr 3:152,491,220...152,502,636
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Cd247 |
Cd247 molecule |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:17170122 PMID:25741868 PMID:26542031 PMID:27872624 PMID:28492532 PMID:31681265 More...
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NCBI chr13:78,043,302...78,118,437
Ensembl chr13:78,043,307...78,122,263
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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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Cd40 |
CD40 molecule |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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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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Cdh22 |
cadherin 22 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,845,563...153,970,630
Ensembl chr 3:153,845,787...153,970,588
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Ctsa |
cathepsin A |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215
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Dbndd2 |
dysbindin domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,216,300...153,220,651
Ensembl chr 3:153,191,090...153,220,651
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Dnttip1 |
deoxynucleotidyltransferase, terminal, interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,481,718...153,505,403
Ensembl chr 3:153,481,705...153,505,759
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Elmo2 |
engulfment and cell motility 2 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:154,023,661...154,061,259
Ensembl chr 3:154,023,661...154,061,185
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Eppin |
epididymal peptidase inhibitor |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,312,396...153,319,310
Ensembl chr 3:153,312,396...153,319,310
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Fitm2 |
fat storage-inducing transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858
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Gdap1l1 |
ganglioside-induced differentiation-associated protein 1-like 1 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,110,225...152,129,693
Ensembl chr 3:152,110,253...152,128,711
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Gtsf1l |
gametocyte specific factor 1-like |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:151,736,020...151,738,715
Ensembl chr 3:151,735,997...151,736,863
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Hnf4a |
hepatocyte nuclear factor 4, alpha |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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Ift52 |
intraflagellar transport 52 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980
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Jak3 |
Janus kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:14615376 PMID:17433830 PMID:17644747 PMID:19203666 PMID:21184155 PMID:23384681 PMID:25146434 PMID:25741868 PMID:28492532 PMID:30697212 PMID:30778343 PMID:32754152 PMID:33365035 PMID:34173127 PMID:35482138 More...
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NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Jph2 |
junctophilin 2 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904
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Kcnk15 |
potassium two pore domain channel subfamily K member 15 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,515,237...152,521,455
Ensembl chr 3:152,515,237...152,521,455
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Kcns1 |
potassium voltage-gated channel, modifier subfamily S, member 1 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,835,642...152,843,032
Ensembl chr 3:152,835,644...152,842,960
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Matn4 |
matrilin 4 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mybl2 |
MYB proto-oncogene like 2 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:151,705,254...151,733,714
Ensembl chr 3:151,705,288...151,733,708
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Myh7 |
myosin heavy chain 7 |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:21310275 PMID:22857948 PMID:22975586 PMID:23233322 PMID:23283745 PMID:23299917 PMID:24038877 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Ncoa5 |
nuclear receptor coactivator 5 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,736,420...153,769,838
Ensembl chr 3:153,736,420...153,769,553
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Neurl2 |
neuralized E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,566,659...153,569,380
Ensembl chr 3:153,566,660...153,569,380
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Ocstamp |
osteoclast stimulatory transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:154,131,113...154,141,611
Ensembl chr 3:154,132,328...154,136,991
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Oser1 |
oxidative stress responsive serine-rich 1 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,066,975...152,085,180
Ensembl chr 3:152,066,975...152,085,149
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Pabpc1l |
poly(A) binding protein, cytoplasmic 1-like |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,692,825...152,725,997
Ensembl chr 3:152,693,700...152,725,997
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Pcif1 |
phosphorylated CTD interacting factor 1 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,614,147...153,627,079
Ensembl chr 3:153,614,147...153,627,079
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Pigt |
phosphatidylinositol glycan anchor biosynthesis, class T |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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Pkig |
cAMP-dependent protein kinase inhibitor gamma |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,330,477...152,398,085
Ensembl chr 3:152,366,041...152,398,082
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Pltp |
phospholipid transfer protein |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
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R3hdml |
R3H domain containing-like |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,171,382...152,182,151
Ensembl chr 3:152,171,382...152,182,151
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Rag1 |
recombination activating 1 |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18463379 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19458910 PMID:19912631 PMID:20956421 PMID:21664875 PMID:22424479 PMID:23085344 PMID:23122631 PMID:23891352 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24985406 PMID:25516070 PMID:25741868 PMID:25869295 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26829731 PMID:27301863 PMID:27484032 PMID:27609655 PMID:28492532 PMID:28747913 PMID:28769923 PMID:28783691 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30877075 PMID:31632441 PMID:32373116 PMID:32445296 PMID:32655540 PMID:32888943 PMID:33365035 PMID:33628209 PMID:34224223 PMID:34664192 PMID:35281013 PMID:35303369 PMID:35503492 PMID:37724703 More...
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NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rbpjl |
recombination signal binding protein for immunoglobulin kappa J region-like |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,134,044...153,147,421
Ensembl chr 3:153,134,140...153,146,513
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G |
Rims4 |
regulating synaptic membrane exocytosis 4 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,520,982...152,585,070
Ensembl chr 3:152,524,095...152,584,780
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G |
Sdc4 |
syndecan 4 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,154,888...153,173,576
Ensembl chr 3:153,154,896...153,173,580
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G |
Semg1 |
semenogelin 1 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,910,033...152,912,882
Ensembl chr 3:152,910,034...152,912,882
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G |
Serinc3 |
serine incorporator 3 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,301,882...152,321,327
Ensembl chr 3:152,301,772...152,321,808
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G |
Slc12a5 |
solute carrier family 12 member 5 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,696,517...153,735,801
Ensembl chr 3:153,696,517...153,735,765
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G |
Slc13a3 |
solute carrier family 13 member 3 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:154,141,878...154,204,604
Ensembl chr 3:154,141,872...154,204,606
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G |
Slc2a10 |
solute carrier family 2 member 10 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690
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G |
Slc35c2 |
solute carrier family 35 member C2 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:154,012,262...154,023,549
Ensembl chr 3:154,012,416...154,023,488
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G |
Slpi |
secretory leukocyte peptidase inhibitor |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
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G |
Snx21 |
sorting nexin family member 21 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,522,474...153,532,235
Ensembl chr 3:153,522,486...153,532,221
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Spata25 |
spermatogenesis associated 25 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,562,479...153,566,508
Ensembl chr 3:153,562,528...153,564,480
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G |
Spint3 |
serine peptidase inhibitor, Kunitz type, 3 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,293,969...153,296,717
Ensembl chr 3:153,294,010...153,296,779
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G |
Spint4 |
serine peptidase inhibitor, Kunitz type 4 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,430,633...153,432,821
Ensembl chr 3:153,430,633...153,433,439
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G |
Stk4 |
serine/threonine kinase 4 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,745,958...152,827,747
Ensembl chr 3:152,745,681...152,827,744
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Sys1 |
Sys1 golgi trafficking protein |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,191,061...153,195,463
Ensembl chr 3:153,191,090...153,220,651
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Tnnc2 |
troponin C2, fast skeletal type |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,513,272...153,516,033
Ensembl chr 3:153,513,271...153,516,029
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Tomm34 |
translocase of outer mitochondrial membrane 34 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,729,345...152,746,295
Ensembl chr 3:152,729,349...152,746,373
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G |
Tox2 |
TOX high mobility group box family member 2 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:151,853,294...151,980,086
Ensembl chr 3:151,853,294...151,980,749
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G |
Tp53rka |
Tp53 tumor protein p53 regulating kinase A |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328
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G |
Tp53tg5 |
TP53 target 5 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,200,792...153,204,337
Ensembl chr 3:153,200,789...153,204,349
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G |
Ttpal |
alpha tocopherol transfer protein like |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,278,246...152,296,550
Ensembl chr 3:152,278,303...152,296,513
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G |
Ube2c |
ubiquitin-conjugating enzyme E2C |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,506,636...153,509,036
Ensembl chr 3:153,506,636...153,513,339
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G |
Wfdc10a |
WAP four-disulfide core domain 10A |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,390,067...153,391,420
Ensembl chr 3:153,390,067...153,391,420
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G |
Wfdc11 |
WAP four-disulfide core domain 11 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,397,585...153,406,407
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G |
Wfdc12 |
WAP four-disulfide core domain 12 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,861,461...152,862,784
Ensembl chr 3:152,862,341...152,862,690
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G |
Wfdc13 |
WAP four-disulfide core domain 13 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,419,553...153,421,306
Ensembl chr 3:153,419,648...153,421,221
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G |
Wfdc2 |
WAP four-disulfide core domain 2 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,286,946...153,314,832
Ensembl chr 3:153,286,131...153,292,807
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G |
Wfdc3 |
WAP four-disulfide core domain 3 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,464,862...153,478,952
Ensembl chr 3:153,464,862...153,478,952
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G |
Wfdc5 |
WAP four-disulfide core domain 5 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,849,025...152,854,868
Ensembl chr 3:152,849,025...152,854,904
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G |
Wfdc6a |
WAP four-disulfide core domain 6A |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,305,336...153,309,144
Ensembl chr 3:153,305,336...153,309,144
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G |
Wfdc8 |
WAP four-disulfide core domain 8 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,323,503...153,339,849
Ensembl chr 3:153,324,413...153,339,842
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G |
Wfdc9 |
WAP four-disulfide core domain 9 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,380,554...153,389,055
Ensembl chr 3:153,380,649...153,391,261
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G |
Ywhab |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:152,659,663...152,682,105
Ensembl chr 3:152,659,651...152,682,105
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G |
Zfp334 |
zinc finger protein 334 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:154,112,537...154,125,087
Ensembl chr 3:154,113,561...154,125,057
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G |
Zfp335 |
zinc finger protein 335 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
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G |
Zswim1 |
zinc finger, SWIM-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,559,104...153,562,821
Ensembl chr 3:153,558,970...153,562,915
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G |
Zswim3 |
zinc finger, SWIM-type containing 3 |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
ClinVar |
PMID:26255240 PMID:26376800 PMID:28492532 |
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NCBI chr 3:153,542,741...153,558,022
Ensembl chr 3:153,542,743...153,558,018
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G |
Blnk |
B-cell linker |
susceptibility |
ISO |
DNA:splice-site mutation CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10583958 |
RGD:1600518 |
NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113
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G |
Btk |
Bruton tyrosine kinase |
susceptibility |
ISO |
DNA:insertions, point mutations ClinVar Annotator: match by term: Agammaglobulinemia CTD Direct Evidence: therapeutic |
ClinVar CTD RGD |
PMID:10352268 PMID:15142874 PMID:8162018 |
RGD:1600526 |
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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G |
Cd19 |
CD19 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16672701 |
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NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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G |
Cd79a |
CD79a molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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G |
Cd79b |
CD79b molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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G |
Lrrc8a |
leucine rich repeat containing 8 VRAC subunit A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:14660746 |
RGD:1599837 |
NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
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G |
Tcf3 |
transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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G |
Btk |
Bruton tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 |
ClinVar |
PMID:7678697 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8090769 PMID:8162056 PMID:8380905 PMID:8594569 PMID:8695804 PMID:8939985 PMID:9143921 PMID:9188445 PMID:9445504 PMID:9524120 PMID:9545398 PMID:9880544 PMID:10092645 PMID:11206059 PMID:11410123 PMID:11445810 PMID:11472359 PMID:11668622 PMID:11742281 PMID:12217331 PMID:14974089 PMID:15661032 PMID:16862044 PMID:16951917 PMID:17327079 PMID:17765309 PMID:18518992 PMID:19039656 PMID:19419768 PMID:19904586 PMID:20529312 PMID:23424595 PMID:25741868 PMID:27512878 PMID:27980540 PMID:28492532 PMID:29424453 PMID:29503650 PMID:30072168 PMID:30564228 More...
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NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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G |
Cd79a |
CD79a molecule |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive agammaglobulinemia 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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G |
Spi1 |
Spi-1 proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant |
OMIM ClinVar |
PMID:25741868 PMID:33951726 |
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NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
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G |
C20h22orf15 |
similar to human chromosome 22 open reading frame 15 |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,723,160...12,725,864
Ensembl chr20:12,723,160...12,726,059
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G |
Chchd10 |
coiled-coil-helix-coiled-coil-helix domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
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G |
Derl3 |
derlin 3 |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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G |
Mif |
macrophage migration inhibitory factor |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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G |
Mmp11 |
matrix metallopeptidase 11 |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
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G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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G |
Vpreb3 |
V-set pre-B cell surrogate light chain 3 |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 2, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,717,421...12,718,785
Ensembl chr20:12,716,779...12,719,520
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G |
Cd79a |
CD79a molecule |
|
ISO |
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive |
OMIM ClinVar |
PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 PMID:24481606 PMID:24728327 PMID:25741868 PMID:28492532 PMID:33046446 PMID:34060650 More...
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NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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G |
Rps19 |
ribosomal protein S19 |
|
ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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Aldh18a1 |
aldehyde dehydrogenase 18 family, member A1 |
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ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
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Blnk |
B-cell linker |
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ISO |
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO BLNK DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive |
OMIM ClinVar |
PMID:9536098 PMID:10583958 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24582315 PMID:25741868 PMID:28492532 PMID:30619340 More...
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NCBI chr 1:239,753,640...239,821,113
Ensembl chr 1:239,753,648...239,821,113
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Cc2d2b |
coiled-coil and C2 domain containing 2B |
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ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 1:239,561,506...239,655,771
Ensembl chr 1:239,561,987...239,682,416
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Ccnj |
cyclin J |
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ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 1:239,659,588...239,677,367
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Entpd1 |
ectonucleoside triphosphate diphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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Tctn3 |
tectonic family member 3 |
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ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272
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Zfp518a |
zinc finger protein 518A |
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ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive |
ClinVar |
PMID:9536098 PMID:10583958 PMID:17576681 PMID:24582315 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:239,719,305...239,744,978
Ensembl chr 1:239,719,505...239,744,979
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Lrrc8a |
leucine rich repeat containing 8 VRAC subunit A |
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ISO |
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO LRRC8A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant | ClinVar Annotator: match by term: LRRC8A-related condition |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
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Cd79b |
CD79b molecule |
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ISO |
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 More...
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NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive |
OMIM ClinVar |
PMID:18414213 PMID:22351933 PMID:24033266 PMID:25133428 PMID:25488983 PMID:25741868 PMID:25939554 PMID:27076228 PMID:27116393 PMID:27693481 PMID:28302518 PMID:28492532 PMID:29178053 PMID:34922003 More...
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NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Tcf3 |
transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: TCF3-related condition |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34618307 |
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NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tcf3 |
transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 PMID:28492532 PMID:33905048 PMID:34618307 More...
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NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tcf3 |
transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307 |
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NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Slc39a7 |
solute carrier family 39 member 7 |
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ISO |
ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30718914 |
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NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537
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Alb |
albumin |
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ISO |
ClinVar Annotator: match by term: Analbuminemia | ClinVar Annotator: match by term: Analbuminemia Baghdad |
OMIM ClinVar |
PMID:3353369 PMID:7937781 PMID:8134387 PMID:9266687 PMID:11781148 PMID:12028999 PMID:15300429 PMID:15996651 PMID:16183048 PMID:17952464 PMID:18459107 PMID:18602380 PMID:18791744 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29981851 More...
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Atp7b |
ATPase copper transporting beta |
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ISO |
ClinVar Annotator: match by term: Anhaptoglobinemia |
ClinVar |
PMID:25741868 |
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NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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Hp |
haptoglobin |
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ISO |
ClinVar Annotator: match by term: AHAPTOGLOBINEMIA | ClinVar Annotator: match by term: Anhaptoglobinemia |
OMIM ClinVar |
PMID:9463309 PMID:10644822 PMID:10666182 PMID:14616769 PMID:14999562 PMID:25741868 More...
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NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Ankrd45 |
ankyrin repeat domain 45 |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:73,424,766...73,450,466
Ensembl chr13:73,424,480...73,450,466
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Cacybp |
calcyclin binding protein |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:72,437,485...72,447,810
Ensembl chr13:72,437,490...72,450,177
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Cenpl |
centromere protein L |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114
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Cop1 |
COP1, E3 ubiquitin ligase |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:71,467,164...71,561,826
Ensembl chr13:71,429,961...71,538,890
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Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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Gas5 |
growth arrest specific 5 |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:73,303,611...73,306,932
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Gpr52 |
G protein-coupled receptor 52 |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:72,800,265...72,804,989
Ensembl chr13:72,800,127...72,806,180
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Kiaa0040 |
KIAA0040 ortholog |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:72,274,519...72,312,103
Ensembl chr13:72,274,552...72,312,103
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Klhl20 |
kelch-like family member 20 |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:73,363,451...73,408,293
Ensembl chr13:73,363,455...73,408,337
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Mrps14 |
mitochondrial ribosomal protein S14 |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:72,429,168...72,434,915
Ensembl chr13:72,408,558...72,434,915
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Prdx6 |
peroxiredoxin 6 |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
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Rabgap1l |
RAB GTPase activating protein 1-like |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:72,464,114...73,059,845
Ensembl chr13:72,468,110...73,059,984
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Rc3h1 |
ring finger and CCCH-type domains 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
PMID:3663935 PMID:10823268 PMID:16956830 PMID:21264449 PMID:24889358 PMID:28492532 PMID:29153735 More...
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NCBI chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
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Scarna3 |
small Cajal body-specific RNA 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr 6:99,222,432...99,222,521
Ensembl chr 6:99,222,432...99,222,521
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Serpinc1 |
serpin family C member 1 |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency | ClinVar Annotator: match by term: Reduced antithrombin III activity OMIM:613118 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:1325679 PMID:1360174 PMID:1421387 PMID:1469094 PMID:1483705 PMID:1483709 PMID:1536946 PMID:1551681 PMID:1555650 PMID:1796410 PMID:1868237 PMID:1873224 PMID:1906811 PMID:1932746 PMID:1977621 PMID:1998601 PMID:2012760 PMID:2093312 PMID:2229057 PMID:2336381 PMID:2349545 PMID:2363123 PMID:2365065 PMID:2372510 PMID:2602168 PMID:2615648 PMID:2776881 PMID:2794060 PMID:2917133 PMID:2983542 PMID:3055413 PMID:3080419 PMID:3141397 PMID:3162733 PMID:3169232 PMID:3179438 PMID:3179448 PMID:3187951 PMID:3191114 PMID:3238650 PMID:3350974 PMID:3360140 PMID:3413737 PMID:3472589 PMID:3512602 PMID:3563966 PMID:3563974 PMID:3567355 PMID:3580302 PMID:3605071 PMID:3663508 PMID:3663935 PMID:3715788 PMID:3775688 PMID:3805013 PMID:3828226 PMID:3960724 PMID:4049307 PMID:4082101 PMID:6204398 PMID:6435583 PMID:6572945 PMID:6582486 PMID:6636045 PMID:6871107 PMID:6871478 PMID:7082587 PMID:7455996 PMID:7734360 PMID:7863481 PMID:7947234 PMID:7949130 PMID:7981186 PMID:7989582 PMID:8217824 PMID:8274732 PMID:8443391 PMID:8476848 PMID:9031473 PMID:9157604 PMID:9536098 PMID:9845533 PMID:10077734 PMID:10361121 PMID:10823268 PMID:10997988 PMID:11192751 PMID:11307839 PMID:11686319 PMID:11713457 PMID:12399451 PMID:12591924 PMID:12755798 PMID:14347873 PMID:14754620 PMID:15164384 PMID:16199547 PMID:16268490 PMID:16620552 PMID:16705712 PMID:16956830 PMID:17492649 PMID:17576681 PMID:17849067 PMID:18480576 PMID:18954896 PMID:20088933 PMID:21264449 PMID:21325262 PMID:22234719 PMID:22398878 PMID:22481271 PMID:22498748 PMID:22627591 PMID:23358206 PMID:23910795 PMID:23932013 PMID:24072242 PMID:24082793 PMID:24121110 PMID:24158114 PMID:24162787 PMID:24196373 PMID:24583439 PMID:24684277 PMID:24814625 PMID:24889358 PMID:24956267 PMID:25298121 PMID:25312341 PMID:25466846 PMID:25522812 PMID:25637381 PMID:25640679 PMID:25741868 PMID:25837307 PMID:26748602 PMID:27003919 PMID:27098529 PMID:27283015 PMID:27322195 PMID:27749296 PMID:27838551 PMID:28166811 PMID:28174134 PMID:28229161 PMID:28300866 PMID:28317092 PMID:28492532 PMID:28607330 PMID:28743742 PMID:29071478 PMID:29153735 PMID:29215785 PMID:29296762 PMID:29662868 PMID:29708875 PMID:29902631 PMID:30046692 PMID:30721820 PMID:30975910 PMID:31030036 PMID:31064749 PMID:31157679 PMID:31885188 PMID:33367661 PMID:33401890 PMID:33614741 PMID:33725558 PMID:33917853 PMID:34355501 PMID:34800304 PMID:35218943 PMID:35486842 PMID:35626216 PMID:3162535 More...
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RGD:1599321 |
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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Slc9c2 |
solute carrier family 9, member C2 (putative) |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:73,424,683...73,524,244
Ensembl chr13:73,451,115...73,524,239 Ensembl chr13:73,451,115...73,524,239
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Tex50 |
testis expressed 50 |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:73,433,375...73,438,787
Ensembl chr13:73,433,384...73,438,792
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Tnfsf18 |
TNF superfamily member 18 |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:73,833,478...73,907,249
Ensembl chr13:73,831,252...73,843,169
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Tnfsf4 |
TNF superfamily member 4 |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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Tnn |
tenascin N |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:72,319,160...72,386,362
Ensembl chr13:72,319,155...72,408,156
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Tnr |
tenascin R |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:71,751,714...72,172,731
Ensembl chr13:72,091,585...72,167,641
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Zbtb37 |
zinc finger and BTB domain containing 37 |
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ISO |
ClinVar Annotator: match by term: Hereditary antithrombin deficiency |
ClinVar |
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NCBI chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124
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Aptx |
aprataxin |
susceptibility |
ISO |
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: DNA:missense mutation:cds:p.V320G(human) DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human) |
OMIM ClinVar CTD RGD |
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 PMID:12629250 PMID:14506070 PMID:15164193 PMID:15276230 PMID:15365154 PMID:15596775 PMID:15699391 PMID:15719174 PMID:15790557 PMID:15852392 PMID:15876520 PMID:15996403 PMID:16400613 PMID:16700949 PMID:17049295 PMID:17242337 PMID:18004640 PMID:18403580 PMID:21228398 PMID:21465257 PMID:21486904 PMID:21984210 PMID:23183622 PMID:23659632 PMID:24033266 PMID:24362567 PMID:25637650 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 PMID:28516743 PMID:28652255 PMID:28881617 PMID:29356829 PMID:29482223 PMID:29934293 PMID:30609409 PMID:31493945 PMID:32214227 PMID:32606550 PMID:32750061 PMID:33624863 PMID:21465257 PMID:17572444 PMID:12196655 More...
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RGD:10054301, RGD:10054300, RGD:1599207 |
NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia |
ClinVar |
PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 PMID:31041400 PMID:31167812 PMID:32504494 PMID:35426160 More...
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NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
ClinVar |
PMID:32488064 |
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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Prkcd |
protein kinase C, delta |
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ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III |
OMIM ClinVar |
PMID:9536098 PMID:11976687 PMID:16199547 PMID:17576681 PMID:23319571 PMID:23430113 PMID:23666743 PMID:24033266 PMID:25741868 PMID:26546672 PMID:28492532 PMID:30257684 PMID:34264265 More...
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NCBI chr16:5,769,217...5,799,380
Ensembl chr16:5,769,215...5,799,352
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Rft1 |
RFT1 homolog |
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ISO |
ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome, type III |
ClinVar |
PMID:11976687 PMID:23319571 PMID:23430113 PMID:28492532 |
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NCBI chr16:5,827,063...5,861,120
Ensembl chr16:5,827,088...5,861,120
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Ammecr1l |
AMMECR1 like |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
ClinVar |
PMID:3185623 PMID:17152060 PMID:28492532 |
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NCBI chr18:23,386,114...23,411,177
Ensembl chr18:23,386,903...23,410,920
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Bin1 |
bridging integrator 1 |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
ClinVar |
PMID:3185623 PMID:17152060 PMID:28492532 |
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NCBI chr18:24,009,731...24,067,267
Ensembl chr18:24,009,653...24,067,263
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Ercc3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
ClinVar |
PMID:3185623 PMID:17152060 PMID:28492532 |
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NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
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Gpr17 |
G protein-coupled receptor 17 |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
ClinVar |
PMID:3185623 PMID:17152060 PMID:28492532 |
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NCBI chr18:23,576,232...23,583,153
Ensembl chr18:23,577,242...23,582,966
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G |
Hs6st1 |
heparan sulfate 6-O-sulfotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
ClinVar |
PMID:3185623 PMID:17152060 PMID:28492532 |
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NCBI chr 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683
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G |
Iws1 |
interacts with SUPT6H, CTD assembly factor 1 |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
ClinVar |
PMID:3185623 PMID:17152060 PMID:28492532 |
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NCBI chr18:23,695,496...23,737,363
Ensembl chr18:23,695,425...23,736,172
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G |
Lims2 |
LIM zinc finger domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
ClinVar |
PMID:3185623 PMID:17152060 PMID:28492532 |
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NCBI chr18:23,553,937...23,592,137
Ensembl chr18:23,553,937...23,592,137
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Map3k2 |
mitogen activated protein kinase kinase kinase 2 |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
ClinVar |
PMID:3185623 PMID:17152060 PMID:28492532 |
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NCBI chr18:23,807,218...23,879,722
Ensembl chr18:23,807,218...23,871,433
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G |
Myo7b |
myosin VIIb |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
ClinVar |
PMID:3185623 PMID:17152060 PMID:28492532 |
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NCBI chr18:23,588,307...23,669,841
Ensembl chr18:23,588,307...23,669,809
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G |
Polr2d |
RNA polymerase II subunit D |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
ClinVar |
PMID:3185623 PMID:17152060 PMID:28492532 |
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NCBI chr18:23,418,097...23,425,228
Ensembl chr18:23,418,097...23,425,228
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Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
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ISO |
ClinVar Annotator: match by term: Hereditary thrombophilia due to congenital protein C deficiency | ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
OMIM ClinVar |
PMID:1301954 PMID:1301959 PMID:1347608 PMID:1464619 PMID:1469096 PMID:1498334 PMID:1511988 PMID:1511989 PMID:1593215 PMID:1678832 PMID:1771629 PMID:1868249 PMID:2437584 PMID:2602169 PMID:2783855 PMID:2991887 PMID:3185623 PMID:6589623 PMID:7482420 PMID:7605880 PMID:7670104 PMID:7740502 PMID:7792728 PMID:7795150 PMID:7831652 PMID:7841324 PMID:7865674 PMID:7881411 PMID:7894031 PMID:7913773 PMID:7951255 PMID:8093743 PMID:8128429 PMID:8165644 PMID:8218861 PMID:8292730 PMID:8324221 PMID:8400292 PMID:8446940 PMID:8462980 PMID:8477066 PMID:8499565 PMID:8499568 PMID:8505327 PMID:8639775 PMID:8704244 PMID:8807339 PMID:8845458 PMID:8883262 PMID:8972002 PMID:9536098 PMID:9553065 PMID:9683579 PMID:9798967 PMID:9840027 PMID:10669160 PMID:10805275 PMID:10942114 PMID:11019966 PMID:11053623 PMID:11336399 PMID:11380450 PMID:14642106 PMID:16199547 PMID:16867987 PMID:17152060 PMID:17576681 PMID:17635713 PMID:17649706 PMID:18573519 PMID:18954896 PMID:19535131 PMID:20815936 PMID:21045961 PMID:21621249 PMID:21744130 PMID:21901152 PMID:22353194 PMID:22425321 PMID:22545135 PMID:22576310 PMID:22627591 PMID:22817391 PMID:22944127 PMID:23174622 PMID:23332921 PMID:23389250 PMID:24028705 PMID:24103874 PMID:24122877 PMID:24162787 PMID:24300144 PMID:24509341 PMID:24782131 PMID:24911457 PMID:25039884 PMID:25393254 PMID:25525159 PMID:25533856 PMID:25637381 PMID:25648792 PMID:25712501 PMID:25741868 PMID:25748729 PMID:26250584 PMID:27081530 PMID:27172833 PMID:27517348 PMID:27838551 PMID:27995882 PMID:28111891 PMID:28174134 PMID:28468828 PMID:28492532 PMID:28607330 PMID:29356699 PMID:29536478 PMID:30439769 PMID:30632992 PMID:31064749 PMID:31254973 PMID:31295762 PMID:31521534 PMID:31592240 PMID:31680443 PMID:31821907 PMID:31980526 PMID:32309994 PMID:32717757 PMID:34355501 PMID:34650936 PMID:35026611 PMID:35112923 More...
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NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Sap130 |
Sin3A associated protein 130 |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
ClinVar |
PMID:3185623 PMID:17152060 PMID:28492532 |
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NCBI chr18:23,244,337...23,345,368
Ensembl chr18:23,267,256...23,345,359
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G |
Sft2d3 |
SFT2 domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
ClinVar |
PMID:3185623 PMID:17152060 PMID:28492532 |
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NCBI chr18:23,537,105...23,539,305
Ensembl chr18:23,537,105...23,539,305
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G |
Uggt1 |
UDP-glucose glycoprotein glucosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
ClinVar |
PMID:3185623 PMID:17152060 PMID:28492532 |
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NCBI chr 9:38,355,229...38,468,473
Ensembl chr 9:38,359,089...38,468,467
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G |
Wdr33 |
WD repeat domain 33 |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant |
ClinVar |
PMID:3185623 PMID:17152060 PMID:28492532 |
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NCBI chr18:23,432,233...23,535,460
Ensembl chr18:23,432,191...23,468,597
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Pros1 |
protein S |
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ISO |
ClinVar Annotator: match by term: PROS1-related condition | ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1547381 PMID:2143091 PMID:2526663 PMID:7545463 PMID:7579448 PMID:7579449 PMID:7803790 PMID:8113388 PMID:8298131 PMID:8765219 PMID:8781426 PMID:8943854 PMID:9241758 PMID:9536098 PMID:9651142 PMID:9657428 PMID:10447256 PMID:10456456 PMID:10669162 PMID:10706858 PMID:10790208 PMID:10811787 PMID:10887114 PMID:11127877 PMID:11858485 PMID:12351389 PMID:12960605 PMID:15147381 PMID:15175796 PMID:15238143 PMID:15712227 PMID:15978566 PMID:16100035 PMID:16199547 PMID:16461766 PMID:16953283 PMID:16961607 PMID:16961608 PMID:17157360 PMID:17576681 PMID:18322254 PMID:18435454 PMID:18841302 PMID:18954896 PMID:19826897 PMID:20811787 PMID:20880255 PMID:21172841 PMID:21285903 PMID:21486865 PMID:21764424 PMID:21764702 PMID:21811774 PMID:22166512 PMID:22261441 PMID:22273984 PMID:22627591 PMID:23813890 PMID:24014240 PMID:24033266 PMID:24055113 PMID:24119292 PMID:24162787 PMID:24233386 PMID:24365770 PMID:25272994 PMID:25637381 PMID:25741868 PMID:26046366 PMID:26251307 PMID:26466767 PMID:26985940 PMID:27652279 PMID:27660039 PMID:27667277 PMID:27748013 PMID:27838551 PMID:28374852 PMID:28492532 PMID:28607330 PMID:29225857 PMID:29321366 PMID:29748776 PMID:29883906 PMID:30349894 PMID:30543986 PMID:30669159 PMID:31064749 PMID:32964666 PMID:34355501 More...
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NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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Tnfrsf11a |
TNF receptor superfamily member 11A |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 |
OMIM CTD ClinVar |
PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive |
OMIM ClinVar |
PMID:1301954 PMID:1301959 PMID:1347608 PMID:1347706 PMID:1348046 PMID:1464619 PMID:1498334 PMID:1511988 PMID:1511989 PMID:1593215 PMID:1678832 PMID:1771629 PMID:1868249 PMID:2602169 PMID:3185623 PMID:7482420 PMID:7605880 PMID:7670104 PMID:7740502 PMID:7792728 PMID:7795150 PMID:7865674 PMID:7894031 PMID:8128429 PMID:8165644 PMID:8324221 PMID:8446940 PMID:8477066 PMID:8499565 PMID:8499568 PMID:8505327 PMID:8807339 PMID:8845458 PMID:8883262 PMID:9798967 PMID:10669160 PMID:10805275 PMID:10942114 PMID:11336399 PMID:14642106 PMID:17152060 PMID:17649706 PMID:18573519 PMID:18954896 PMID:19535131 PMID:20815936 PMID:21621249 PMID:21744130 PMID:21901152 PMID:22627591 PMID:23174622 PMID:24028705 PMID:24103874 PMID:24162787 PMID:24782131 PMID:24796542 PMID:24911457 PMID:25393254 PMID:25525159 PMID:25533856 PMID:25637381 PMID:25648792 PMID:25741868 PMID:25748729 PMID:27172833 PMID:27517348 PMID:28111891 PMID:28492532 PMID:28607330 PMID:31064749 PMID:31254973 PMID:31821907 PMID:31980526 PMID:32717757 PMID:34355501 PMID:35112923 More...
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NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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G |
Arl13b |
ADP-ribosylation factor like GTPase 13B |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive |
ClinVar |
PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532 |
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NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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G |
Nsun3 |
NOP2/Sun RNA methyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive |
ClinVar |
PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532 |
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NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543
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G |
Pros1 |
protein S |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1547381 PMID:1671337 PMID:2143091 PMID:2231208 PMID:2521801 PMID:2526663 PMID:7545463 PMID:7579448 PMID:7579449 PMID:7803790 PMID:7974339 PMID:8298131 PMID:8616098 PMID:8639833 PMID:8765219 PMID:8781426 PMID:8841302 PMID:8943854 PMID:9031442 PMID:9031443 PMID:9241758 PMID:9536098 PMID:9651142 PMID:10063989 PMID:10447256 PMID:10456456 PMID:10613646 PMID:10613647 PMID:10669162 PMID:10706858 PMID:10790208 PMID:10811787 PMID:10887114 PMID:11127877 PMID:11776305 PMID:11858485 PMID:12351389 PMID:12960605 PMID:15147381 PMID:15175796 PMID:15238143 PMID:15712227 PMID:15712777 PMID:15978566 PMID:16100035 PMID:16199547 PMID:16363235 PMID:16461766 PMID:16953283 PMID:16961607 PMID:16961608 PMID:17157360 PMID:17576681 PMID:18242167 PMID:18322254 PMID:18435454 PMID:18841302 PMID:18954896 PMID:19826897 PMID:20181378 PMID:20421270 PMID:20484936 PMID:20811787 PMID:20880255 PMID:21172841 PMID:21285903 PMID:21486865 PMID:21764424 PMID:21764702 PMID:21811774 PMID:22166512 PMID:22261441 PMID:22273984 PMID:22290026 PMID:22627591 PMID:22627709 PMID:22951146 PMID:23813890 PMID:24014240 PMID:24033266 PMID:24055113 PMID:24119292 PMID:24162787 PMID:24233386 PMID:24365770 PMID:25272994 PMID:25637381 PMID:25640679 PMID:25741868 PMID:26046366 PMID:26251307 PMID:26466767 PMID:26985940 PMID:27652279 PMID:27660039 PMID:27667277 PMID:27748013 PMID:27838551 PMID:28088608 PMID:28174134 PMID:28374852 PMID:28492532 PMID:28607330 PMID:29225857 PMID:29321366 PMID:29748776 PMID:29883906 PMID:30349894 PMID:30543986 PMID:30669159 PMID:31064749 PMID:31068512 PMID:31422373 PMID:32964666 PMID:34355501 PMID:34533296 PMID:34729451 More...
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NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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G |
Stx19 |
syntaxin 19 |
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ISO |
ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive |
ClinVar |
PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532 |
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NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191
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G |
Cd40 |
CD40 molecule |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM |
ClinVar |
PMID:25741868 |
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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 |
Cd40lg |
CD40 ligand |
disease_progression |
ISO |
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:mutations:exon, intron:multiple DNA:missense mutation:exon:p.T169N (526T>A) (human) |
ClinVar RGD CTD OMIM |
PMID:15611226 PMID:21841160 PMID:25741868 PMID:28492532 PMID:21841160 PMID:17553565 PMID:15358621 PMID:16508335 More...
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RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Acadvl |
acyl-CoA dehydrogenase, very long chain |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075
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G |
Acap1 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,605,323...54,619,472
Ensembl chr10:54,605,323...54,619,472
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G |
Alox12 |
arachidonate 12-lipoxygenase, 12S type |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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G |
Alox15b |
arachidonate 15-lipoxygenase, type B |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
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G |
Aloxe3 |
arachidonate epidermal lipoxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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G |
Asgr1 |
asialoglycoprotein receptor 1 |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,775,727...54,779,642
Ensembl chr10:54,776,024...54,779,631
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G |
Asgr2 |
asialoglycoprotein receptor 2 |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617
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G |
Atp1b2 |
ATPase Na+/K+ transporting subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
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G |
Aurkb |
aurora kinase B |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
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G |
Bacc1 |
BPTF associated chromatin complex component 1 |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,951,991...54,954,756
Ensembl chr10:54,951,991...54,956,601
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G |
Bcl6b |
BCL6B, transcription repressor |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,940,908...54,947,022
Ensembl chr10:54,940,909...54,945,974
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G |
Borcs6 |
BLOC-1 related complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
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G |
Btk |
Bruton tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:11472359 PMID:18241230 PMID:25741868 PMID:28492532 |
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NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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G |
Cd19 |
CD19 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16672701 |
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NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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G |
Cd40lg |
CD40 ligand |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:9150729 PMID:9746782 PMID:15358621 PMID:25741868 |
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NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Cd68 |
Cd68 molecule |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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G |
Cd81 |
Cd81 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
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G |
Chd3 |
chromodomain helicase DNA binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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G |
Chrnb1 |
cholinergic receptor nicotinic beta 1 subunit |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
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G |
Cldn7 |
claudin 7 |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171
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G |
Clec10a |
C-type lectin domain containing 10A |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,876,244...54,880,439
Ensembl chr10:54,876,260...54,880,435
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G |
Cntrob |
centrobin, centriole duplication and spindle assembly protein |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
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G |
Cr2 |
complement C3d receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
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G |
Ctc1 |
CST telomere replication complex component 1 |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Ctdnep1 |
CTD nuclear envelope phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,704,367...54,713,781
Ensembl chr10:54,704,148...54,713,781
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G |
Cyb5d1 |
cytochrome b5 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911
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G |
Dclre1c |
DNA cross-link repair 1C |
|
ISO |
DNA:missense mutation, frameshift mutation: :p.T65I (c.194C>T), c.1669_1670insA (human) |
RGD |
PMID:26476407 |
RGD:11251730 |
NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
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G |
Dlg4 |
discs large MAGUK scaffold protein 4 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
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|
G |
Dnah2 |
dynein, axonemal, heavy chain 2 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
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|
G |
Dvl2 |
dishevelled segment polarity protein 2 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,723,356...54,732,823
Ensembl chr10:54,723,411...54,732,820
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G |
Efnb3 |
ephrin B3 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471
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G |
Eif4a1 |
eukaryotic translation initiation factor 4A1 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,384,345...54,389,855
Ensembl chr10:54,384,347...54,389,858
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|
G |
Eif5a |
eukaryotic translation initiation factor 5A |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
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G |
Elp5 |
elongator acetyltransferase complex subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,692,526...54,704,255
Ensembl chr10:54,692,530...54,704,923
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|
G |
Fbxo39 |
F-box protein 39 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:56,929,699...56,934,911
Ensembl chr10:56,932,297...56,934,906
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G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
protein:decreased expression:blood, monocyte |
RGD |
PMID:17900300 |
RGD:5147988 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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|
G |
Fgf11 |
fibroblast growth factor 11 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,516,508...54,522,067
Ensembl chr10:54,517,077...54,522,062
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|
G |
Fxr2 |
FMR1 autosomal homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,350,577...54,370,964
Ensembl chr10:54,350,131...54,370,964
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|
G |
Gabarap |
GABA type A receptor-associated protein |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,714,777...54,718,099
Ensembl chr10:54,714,198...54,717,765
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|
G |
Gps2 |
G protein pathway suppressor 2 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,637,360...54,640,542
Ensembl chr10:54,637,455...54,640,650
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G |
Gucy2e |
guanylate cyclase 2E |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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G |
Hes7 |
hes family bHLH transcription factor 7 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
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|
G |
Icos |
inducible T-cell co-stimulator |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism |
CTD MouseDO |
|
|
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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|
G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Common variable agammaglobulinemia |
ClinVar |
PMID:11590134 PMID:15229184 PMID:20529958 PMID:25741868 PMID:28993958 |
|
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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|
G |
Ikzf1 |
IKAROS family zinc finger 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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|
G |
Il21 |
interleukin 21 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: IL21 DEFICIENCY |
CTD ClinVar |
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 |
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NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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G |
Il21r |
interleukin 21 receptor |
|
ISO |
DNA:SNPs:exons: |
RGD |
PMID:18254984 |
RGD:6892941 |
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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|
G |
Kcnab3 |
potassium voltage-gated channel subfamily A regulatory beta subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174
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G |
Kctd11 |
potassium channel tetramerization domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,602,575...54,604,738
Ensembl chr10:54,599,754...54,604,760
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|
G |
Kdm6b |
lysine demethylase 6B |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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|
G |
Manba |
mannosidase beta |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:223,910,432...224,002,988
Ensembl chr 2:223,910,432...224,002,983
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|
G |
Mbl2 |
mannose binding lectin 2 |
|
ISO |
DNA:missense mutations:exon:p.R52C, p.G54N, p.G57E (human) |
RGD |
PMID:10652157 |
RGD:4889436 |
NCBI chr 1:228,016,439...228,024,736
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|
G |
Mir195 |
microRNA 195 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,951,838...54,951,924
Ensembl chr10:54,951,838...54,951,924
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|
G |
Mpdu1 |
mannose-P-dolichol utilization defect 1 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,374,719...54,380,301
Ensembl chr10:54,374,725...54,380,447
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G |
Ms4a1 |
membrane spanning 4-domains A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
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G |
Naa38 |
N(alpha)-acetyltransferase 38, NatC auxiliary subunit |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
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|
G |
Neurl4 |
neuralized E3 ubiquitin protein ligase 4 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,624,923...54,637,262
Ensembl chr10:54,625,642...54,637,258
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|
G |
Nfkb1 |
nuclear factor kappa B subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common variable immunodeficiency |
CTD ClinVar |
PMID:16199547 PMID:25741868 PMID:26279205 PMID:28492532 PMID:29477724 PMID:32165824 PMID:32278790 PMID:32499645 PMID:32581362 PMID:32918165 More...
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|
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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|
G |
Nfkb2 |
nuclear factor kappa B subunit 2 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common variable immunodeficiency |
CTD ClinVar MouseDO |
PMID:24140114 PMID:24702956 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28492532 PMID:28778864 PMID:29225085 PMID:30941118 More...
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|
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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G |
Nlgn2 |
neuroligin 2 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,544,461...54,557,854
Ensembl chr10:54,544,588...54,558,434
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|
G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
ISO |
protein:decreased expression:T cell (human) |
RGD |
PMID:22697005 |
RGD:6771226 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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G |
Per1 |
period circadian regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
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|
G |
Phf23 |
PHD finger protein 23 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,718,663...54,722,784
Ensembl chr10:54,717,724...54,722,782
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|
G |
Plscr3 |
phospholipid scramblase 3 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,566,556...54,573,240
Ensembl chr10:54,566,873...54,578,709
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G |
Polr2a |
RNA polymerase II subunit A |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
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G |
Rag2 |
recombination activating 2 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:18463379 PMID:21664875 PMID:24331380 PMID:24996264 PMID:25741868 PMID:26457731 PMID:26996199 PMID:28492532 PMID:29772310 PMID:31334206 PMID:31388879 PMID:32581362 PMID:32655540 More...
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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 |
Rnasek |
ribonuclease K |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,954,904...54,956,622
Ensembl chr10:54,951,991...54,956,601
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G |
RT1-Bb |
RT1 class II, locus Bb |
|
ISO |
DNA:polymorphisms (human) |
RGD |
PMID:10361244 |
RGD:5147864 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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|
G |
Sat2 |
spermidine/spermine N1-acetyltransferase family member 2 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,340,756...54,343,507
Ensembl chr10:54,340,372...54,343,224
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G |
Senp3 |
SUMO specific peptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593
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G |
Shbg |
sex hormone binding globulin |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
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G |
Slc13a5 |
solute carrier family 13 member 5 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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G |
Slc16a11 |
solute carrier family 16, member 11 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,929,129...54,933,021
Ensembl chr10:54,927,725...54,942,915
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G |
Slc16a13 |
solute carrier family 16, member 13 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,925,973...54,937,860
Ensembl chr10:54,926,760...54,937,788
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G |
Slc2a4 |
solute carrier family 2 member 4 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565
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G |
Slc35g3 |
solute carrier family 35, member G3 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,478,796...54,481,543
Ensembl chr10:54,479,770...54,481,748
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G |
Sox15 |
SRY-box transcription factor 15 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,373,045...54,374,749
Ensembl chr10:54,372,403...54,376,591
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G |
Spem1 |
spermatid maturation 1 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,541,454...54,542,755
Ensembl chr10:54,541,471...54,546,131
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G |
Spem2 |
SPEM family member 2 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,537,168...54,539,026
Ensembl chr10:54,537,174...54,539,058
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G |
Tekt1 |
tektin 1 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:56,952,164...56,980,572
Ensembl chr10:56,952,167...56,980,572
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G |
Tmem102 |
transmembrane protein 102 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,523,901...54,525,997
Ensembl chr10:54,523,585...54,525,990
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G |
Tmem107 |
transmembrane protein 107 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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G |
Tmem256 |
transmembrane protein 256 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
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G |
Tmem88 |
transmembrane protein 88 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447
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G |
Tmem95 |
transmembrane protein 95 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,599,799...54,601,746
Ensembl chr10:54,599,800...54,601,790
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G |
Tnfrsf13b |
TNF receptor superfamily member 13B |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable immunodeficiency | ClinVar Annotator: match by term: Immunoglobulin deficiency, late-onset |
CTD ClinVar |
PMID:8072530 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 PMID:16630947 PMID:16782407 PMID:16899196 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17464555 PMID:17492055 PMID:17556024 PMID:17697196 PMID:17947292 PMID:17983875 PMID:18200502 PMID:18954329 PMID:18978466 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20156508 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21675890 PMID:21724465 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29077208 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30090215 PMID:30290665 PMID:30665703 PMID:30723478 PMID:30739909 PMID:31203817 PMID:31530980 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33046446 PMID:33258288 PMID:33726816 PMID:34093558 PMID:34426522 PMID:34975878 PMID:35686370 PMID:37652172 PMID:37678716 More...
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|
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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G |
Tnfrsf13c |
TNF receptor superfamily member 13C |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Common Variable Immune Deficiency, Recessive |
CTD ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
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G |
Tnfsf12 |
TNF superfamily member 12 |
|
ISO |
ClinVar Annotator: match by term: Common Variable Immune Deficiency, Dominant | ClinVar Annotator: match by term: Common variable agammaglobulinemia | ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23493554 PMID:25741868 PMID:28492532 |
|
NCBI chr10:54,403,870...54,413,213
Ensembl chr10:54,403,870...54,413,213
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G |
Tnfsf13 |
TNF superfamily member 13 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,400,054...54,403,723
Ensembl chr10:54,400,065...54,403,042
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|
G |
Tnk1 |
tyrosine kinase, non-receptor, 1 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Trappc1 |
trafficking protein particle complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331
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G |
Ttc7a |
tetratricopeptide repeat domain 7A |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32499645 PMID:32581362 More...
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|
NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892
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|
G |
Vamp2 |
vesicle-associated membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
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G |
Wrap53 |
WD repeat containing, antisense to TP53 |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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G |
Xaf1 |
XIAP associated factor 1 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770
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G |
Ybx2 |
Y box binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,659,719...54,665,371
Ensembl chr10:54,659,719...54,665,371
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G |
Zbtb4 |
zinc finger and BTB domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency |
ClinVar |
PMID:28492532 |
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NCBI chr10:54,480,698...54,501,492
Ensembl chr10:54,485,071...54,501,492
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G |
Abi2 |
abl-interactor 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:61,827,186...61,905,703
Ensembl chr 9:61,827,139...61,905,699
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G |
Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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G |
C2cd6 |
C2 calcium dependent domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806
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G |
Carf |
calcium responsive transcription factor |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:61,502,368...61,552,433
Ensembl chr 9:61,506,956...61,550,462
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G |
Casp8 |
caspase 8 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Cd28 |
Cd28 molecule |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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G |
Cdk15 |
cyclin-dependent kinase 15 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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|
NCBI chr 9:60,710,787...60,803,638
Ensembl chr 9:60,711,715...60,802,777
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G |
Cflar |
CASP8 and FADD-like apoptosis regulator |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Cyp20a1 |
cytochrome P450, family 20, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:61,755,804...61,805,123
Ensembl chr 9:61,755,790...61,805,123
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G |
Fam117b |
family with sequence similarity 117, member B |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:61,340,284...61,418,531
Ensembl chr 9:61,340,249...61,408,483
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G |
Flacc1 |
flagellum associated containing coiled-coil domains 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:60,315,581...60,343,692
Ensembl chr 9:60,315,582...60,343,648
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G |
Fzd7 |
frizzled class receptor 7 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:60,931,433...60,934,252
Ensembl chr 9:60,930,875...60,935,781
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G |
Ica1l |
islet cell autoantigen 1-like |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:61,410,959...61,469,884
Ensembl chr 9:61,412,091...61,470,134
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G |
Icos |
inducible T-cell co-stimulator |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
OMIM ClinVar |
PMID:9536098 PMID:11343122 PMID:11956294 PMID:12353035 PMID:12577056 PMID:15507387 PMID:16199547 PMID:17576681 PMID:19380800 PMID:20817864 PMID:24033266 PMID:25213377 PMID:25329329 PMID:25741868 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 PMID:31858365 PMID:32499645 More...
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NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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G |
Mpp4 |
MAGUK p55 scaffold protein 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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G |
Nbeal1 |
neurobeachin-like 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:61,575,154...61,743,896
Ensembl chr 9:61,575,356...61,736,750
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G |
Ndufb3 |
NADH:ubiquinone oxidoreductase subunit B3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
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G |
Nfkb2 |
nuclear factor kappa B subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:24140114 PMID:28492532 |
|
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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G |
Nop58 |
NOP58 ribonucleoprotein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:61,120,939...61,144,810
Ensembl chr 9:61,120,929...61,144,810
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G |
Raph1 |
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:61,907,476...61,990,170
Ensembl chr 9:61,907,758...61,961,209
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G |
Stradb |
STE20 related adaptor beta |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
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G |
Sumo1 |
small ubiquitin-like modifier 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761
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G |
Tmem237 |
transmembrane protein 237 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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G |
Tnfrsf13b |
TNF receptor superfamily member 13B |
|
ISO |
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25569260 PMID:25741868 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
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NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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G |
Trak2 |
trafficking kinesin protein 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:60,348,531...60,414,036
Ensembl chr 9:60,350,012...60,413,996
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G |
Wdr12 |
WD repeat domain 12 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 1 |
ClinVar |
PMID:11343122 PMID:12353035 PMID:12577056 PMID:19380800 PMID:25213377 PMID:25329329 PMID:25814141 PMID:28492532 PMID:29729943 PMID:30326257 More...
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NCBI chr 9:61,475,498...61,502,762
Ensembl chr 9:61,475,517...61,502,469
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G |
Nfkb2 |
nuclear factor kappa B subunit 2 |
|
ISO |
ClinVar Annotator: match by term: DEFICIT IN ANTERIOR PITUITARY FUNCTION AND VARIABLE IMMUNODEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16303288 PMID:17576681 PMID:22013103 PMID:24033266 PMID:24140114 PMID:24702956 PMID:24888602 PMID:25237204 PMID:25524009 PMID:25605273 PMID:25741868 PMID:28492532 PMID:28778864 PMID:29225085 PMID:29921932 PMID:30697212 PMID:30941118 PMID:31417880 PMID:32506361 PMID:32888943 PMID:34619682 PMID:34975878 PMID:36703223 More...
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NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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G |
Stim1 |
stromal interaction molecule 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 10 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
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G |
Il21 |
interleukin 21 |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency 11 |
OMIM ClinVar |
PMID:24033266 PMID:24746753 PMID:25741868 PMID:28492532 |
|
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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G |
Nfkb1 |
nuclear factor kappa B subunit 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 | ClinVar Annotator: match by term: NFKB1-related condition |
OMIM ClinVar |
PMID:9383370 PMID:11583829 PMID:16199547 PMID:16639407 PMID:25741868 PMID:26279205 PMID:27365489 PMID:28492532 PMID:29077208 PMID:29477724 PMID:31803180 PMID:32165824 PMID:32278790 PMID:32499645 PMID:32581362 PMID:32918165 PMID:34447408 PMID:36105815 More...
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NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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G |
Nfkbid |
NFKB inhibitor delta |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 12 |
ClinVar |
|
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NCBI chr 1:85,679,353...85,690,415
Ensembl chr 1:85,680,861...85,690,447
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G |
Ikzf1 |
IKAROS family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: IKZF1-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 13 |
OMIM ClinVar |
PMID:21548011 PMID:25741868 PMID:26981933 PMID:27939403 PMID:27993330 PMID:28096536 PMID:28492532 PMID:28927821 PMID:29889099 PMID:30940614 PMID:31057532 PMID:31089937 PMID:34329649 PMID:35566429 More...
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NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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G |
Arid4b |
AT-rich interaction domain 4B |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
ClinVar |
|
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NCBI chr17:51,138,419...51,262,894
Ensembl chr17:51,138,535...51,262,906
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G |
B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
ClinVar |
|
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NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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G |
Coa6 |
cytochrome c oxidase assembly factor 6 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
ClinVar |
|
|
NCBI chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407
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G |
Ggps1 |
geranylgeranyl diphosphate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
ClinVar |
|
|
NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
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G |
Gng4 |
G protein subunit gamma 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
ClinVar |
|
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NCBI chr17:86,448,708...86,497,560
Ensembl chr17:86,449,022...86,495,254
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G |
Irf2bp2 |
interferon regulatory factor 2 binding protein 2 |
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ISO |
ClinVar Annotator: match by term: IRF2BP2-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:27016798 PMID:28492532 PMID:35538558 |
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NCBI chr19:54,559,417...54,565,096
Ensembl chr19:54,560,128...54,566,642
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G |
Kcnk1 |
potassium two pore domain channel subfamily K member 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
ClinVar |
|
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NCBI chr19:53,959,411...53,997,726
Ensembl chr19:53,959,657...53,997,724
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G |
LOC120098679 |
small nucleolar RNA SNORA14 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
ClinVar |
|
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NCBI chr19:54,934,225...54,934,358
Ensembl chr19:54,934,225...54,934,358
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G |
Lyst |
lysosomal trafficking regulator |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
ClinVar |
|
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NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480
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G |
Nid1 |
nidogen 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
ClinVar |
|
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NCBI chr17:86,085,133...86,158,272
Ensembl chr17:86,085,077...86,158,267
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G |
Rbm34 |
RNA binding motif protein 34 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
ClinVar |
|
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NCBI chr19:54,936,516...54,956,810
Ensembl chr19:54,936,531...54,956,715
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G |
Slc35f3 |
solute carrier family 35, member F3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
ClinVar |
|
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NCBI chr19:54,102,811...54,371,765
Ensembl chr19:54,103,120...54,372,839
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G |
Tarbp1 |
TAR (HIV-1) RNA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
ClinVar |
|
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NCBI chr19:54,398,268...54,449,293
Ensembl chr19:54,398,253...54,449,261
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G |
Tbce |
tubulin folding cofactor E |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
ClinVar |
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NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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G |
Tomm20 |
translocase of outer mitochondrial membrane 20 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 |
ClinVar |
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NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198
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G |
Ruvbl1 |
RuvB-like AAA ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 |
ClinVar |
PMID:28782633 |
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NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384
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G |
Sec61a1 |
SEC61 translocon subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 15 |
OMIM ClinVar |
PMID:25741868 PMID:28782633 |
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NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
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G |
Tert |
telomerase reverse transcriptase |
|
ISO |
ClinVar Annotator: match by term: Decreased circulating antibody concentration |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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G |
Aldh3a2 |
aldehyde dehydrogenase 3 family, member A2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
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G |
Alkbh5 |
alkB homolog 5, RNA demethylase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
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G |
Atpaf2 |
ATP synthase mitochondrial F1 complex assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026
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G |
B9d1 |
B9 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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G |
Cd19 |
CD19 molecule |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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G |
Cops3 |
COP9 signalosome subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597
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G |
Cr2 |
complement C3d receptor 2 |
|
ISO |
ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
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G |
Drc3 |
dynein regulatory complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369
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G |
Drg2 |
developmentally regulated GTP binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,255,512...45,269,971
Ensembl chr10:45,255,507...45,269,969
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G |
Epn2 |
epsin 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642
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G |
Fam83g |
family with sequence similarity 83, member G |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
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|
G |
Fbxw10 |
F-box and WD repeat domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907
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|
G |
Flcn |
folliculin |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
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|
G |
Flii |
FLII, actin remodeling protein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
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|
G |
Gid4 |
GID complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,221,556...45,247,627
Ensembl chr10:45,245,754...45,247,621 Ensembl chr10:45,245,754...45,247,621
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|
G |
Grap |
GRB2-related adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
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|
G |
Llgl1 |
LLGL scribble cell polarity complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094
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|
G |
Mapk7 |
mitogen-activated protein kinase 7 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
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|
G |
Med9 |
mediator complex subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464
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|
G |
Mfap4 |
microfibril associated protein 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155
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G |
Mief2 |
mitochondrial elongation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144
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|
G |
Mprip |
myosin phosphatase Rho interacting protein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:44,453,949...44,573,843
Ensembl chr10:44,453,929...44,569,118
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G |
Myo15a |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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|
G |
Nt5m |
5',3'-nucleotidase, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150
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|
G |
Pemt |
phosphatidylethanolamine N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
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G |
Pld6 |
phospholipase D family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:44,578,536...44,581,187
Ensembl chr10:44,577,675...44,581,077
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|
G |
Prpsap2 |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849
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|
G |
Rai1 |
retinoic acid induced 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
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G |
Rasd1 |
ras related dexamethasone induced 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186
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G |
Rnf112 |
ring finger protein 112 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699
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|
G |
Shmt1 |
serine hydroxymethyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820
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|
G |
Slc47a1 |
solute carrier family 47 member 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637
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G |
Slc5a10 |
solute carrier family 5 member 10 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,352,060...46,400,795
Ensembl chr10:46,352,061...46,399,811
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G |
Smcr8 |
SMCR8-C9orf72 complex subunit |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876
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|
G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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G |
Tnfrsf13b |
TNF receptor superfamily member 13B |
|
ISO |
ClinVar Annotator: match by term: HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY | ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
OMIM ClinVar |
PMID:8072530 PMID:9536098 PMID:16007086 PMID:16007087 PMID:16199547 PMID:16299065 PMID:16618819 PMID:16630947 PMID:16782407 PMID:16899196 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17464555 PMID:17492055 PMID:17556024 PMID:17576681 PMID:17697196 PMID:17947292 PMID:17983875 PMID:18200502 PMID:18954329 PMID:18978466 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20156508 PMID:20652909 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21675890 PMID:21724465 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22922270 PMID:22983507 PMID:23225259 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25205549 PMID:25326637 PMID:25569260 PMID:25640679 PMID:25741868 PMID:25959671 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29077208 PMID:29114388 PMID:29146883 PMID:29531467 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30090215 PMID:30290665 PMID:30301590 PMID:30665703 PMID:30723478 PMID:30739909 PMID:30993493 PMID:31203817 PMID:31530980 PMID:31618753 PMID:31681265 PMID:32135276 PMID:32185379 PMID:32499645 PMID:32581362 PMID:33046446 PMID:33258288 PMID:33425813 PMID:33726816 PMID:33859323 PMID:34093558 PMID:34426522 PMID:34441032 PMID:34573280 PMID:34975878 PMID:35686370 PMID:37652172 PMID:37678716 More...
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NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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G |
Tnfrsf13c |
TNF receptor superfamily member 13C |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
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G |
Tom1l2 |
target of myb1 like 2 membrane trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032
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G |
Top3a |
DNA topoisomerase III alpha |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
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G |
Tvp23b |
trans-golgi network vesicle protein 23 homolog B |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203
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G |
Cd19 |
CD19 molecule |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 3 |
OMIM ClinVar |
PMID:16672701 PMID:17882224 PMID:21159371 PMID:21330302 PMID:24033266 PMID:25741868 PMID:28492532 PMID:34490048 More...
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NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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G |
A4galt |
alpha 1,4-galactosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
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G |
Aco2 |
aconitase 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
|
NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
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G |
Ccdc134 |
coiled-coil domain containing 134 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
|
NCBI chr 7:113,644,557...113,659,050
Ensembl chr 7:113,644,639...113,659,050
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G |
Cenpm |
centromere protein M |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
|
NCBI chr 7:113,748,026...113,759,296
Ensembl chr 7:113,747,516...113,764,258
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G |
Chadl |
chondroadherin-like |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,205,323...113,218,678
Ensembl chr 7:113,210,748...113,217,272
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G |
Csdc2 |
cold shock domain containing C2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
|
NCBI chr 7:113,451,998...113,466,464
Ensembl chr 7:113,451,998...113,466,463
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G |
Cyb5r3 |
cytochrome b5 reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:114,306,686...114,324,247
Ensembl chr 7:114,306,685...114,324,298
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G |
Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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G |
Desi1 |
desumoylating isopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
|
NCBI chr 7:113,519,974...113,542,834
Ensembl chr 7:113,519,980...113,542,845
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G |
Ep300 |
E1A binding protein p300 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
L3mbtl2 |
L3MBTL histone methyl-lysine binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489
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G |
Mei1 |
meiotic double-stranded break formation protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
|
NCBI chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511
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G |
Mir33 |
microRNA 33 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
|
NCBI chr 7:113,713,855...113,713,923
Ensembl chr 7:113,713,855...113,713,923
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G |
Naga |
alpha-N-acetylgalactosaminidase |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
|
NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
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G |
Ndufa6 |
NADH:ubiquinone oxidoreductase subunit A6 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239
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G |
Nfam1 |
NFAT activating protein with ITAM motif 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:114,139,318...114,175,395
Ensembl chr 7:114,139,345...114,175,442
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G |
Pheta2 |
PH domain containing endocytic trafficking adaptor 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:113,855,437...113,861,910
Ensembl chr 7:113,857,249...113,861,871
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G |
Phf5a |
PHD finger protein 5A |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
|
NCBI chr 7:113,378,469...113,385,035
Ensembl chr 7:113,378,471...113,385,460
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G |
Pmm1 |
phosphomannomutase 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
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NCBI chr 7:113,466,632...113,477,004
Ensembl chr 7:113,466,632...113,477,022
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G |
Poldip3 |
DNA polymerase delta interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:114,274,845...114,303,278
Ensembl chr 7:114,275,085...114,303,271
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G |
Polr3h |
RNA polymerase III subunit H |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
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NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
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G |
Rangap1 |
RAN GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
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NCBI chr 7:113,224,695...113,250,441
Ensembl chr 7:113,224,703...113,250,438
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G |
Rbx1 |
ring-box 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:112,976,863...113,001,051
Ensembl chr 7:112,990,835...113,001,051
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G |
Rrp7a |
ribosomal RNA processing 7 homolog A |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:114,262,929...114,272,817
Ensembl chr 7:114,256,472...114,272,817
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G |
Septin3 |
septin 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
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NCBI chr 7:113,783,217...113,811,089
Ensembl chr 7:113,783,095...113,811,087
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G |
Serhl2 |
serine hydrolase-like 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:114,246,035...114,266,298
Ensembl chr 7:114,246,056...114,272,781
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G |
Shisa8 |
shisa family member 8 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
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NCBI chr 7:113,722,408...113,727,858
Ensembl chr 7:113,722,408...113,727,858
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G |
Smdt1 |
single-pass membrane protein with aspartate-rich tail 1 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:113,862,162...113,865,245
Ensembl chr 7:113,860,611...113,865,226
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G |
Smim45 |
small integral membrane protein 45 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
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NCBI chr 7:113,769,175...113,773,952
Ensembl chr 7:113,765,468...113,773,339
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G |
Snu13 |
small nuclear ribonucleoprotein 13 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
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NCBI chr 7:113,565,293...113,570,887
Ensembl chr 7:113,565,295...113,570,872 Ensembl chr 1:113,565,295...113,570,872
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G |
Srebf2 |
sterol regulatory element binding transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
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NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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G |
Tcf20 |
transcription factor 20 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839
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G |
Tef |
TEF transcription factor, PAR bZIP family member |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
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NCBI chr 7:113,317,191...113,341,783
Ensembl chr 7:113,317,283...113,341,783
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G |
Tnfrsf13c |
TNF receptor superfamily member 13C |
|
ISO |
ClinVar Annotator: match by term: ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT | ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:19666484 PMID:21041452 PMID:25741868 PMID:28492532 More...
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NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
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G |
Tob2 |
transducer of ERBB2, 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
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NCBI chr 7:113,362,703...113,371,423
Ensembl chr 7:113,361,148...113,372,688
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G |
Wbp2nl |
WBP2 N-terminal like |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
|
NCBI chr 7:113,814,793...113,831,974
Ensembl chr 7:113,814,992...113,831,333
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G |
Xpnpep3 |
X-prolyl aminopeptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:112,926,154...112,978,793
Ensembl chr 7:112,926,248...112,974,878
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G |
Xrcc6 |
X-ray repair cross complementing 6 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
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NCBI chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762
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G |
Zc3h7b |
zinc finger CCCH-type containing 7B |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 4 |
ClinVar |
PMID:19666484 PMID:28492532 |
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NCBI chr 7:113,262,142...113,310,399
Ensembl chr 7:113,262,165...113,310,399
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G |
Ms4a1 |
membrane spanning 4-domains A1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 5 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
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G |
Cd81 |
Cd81 molecule |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 6 |
OMIM ClinVar |
PMID:20237408 PMID:25741868 PMID:28492532 |
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NCBI chr 1:198,235,861...198,251,660
Ensembl chr 1:198,241,484...198,251,660
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G |
C13h1orf116 |
similar to human chromosome 1 open reading frame 116 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,187,442...42,201,432
Ensembl chr13:42,188,609...42,201,426
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G |
C4bpa |
complement component 4 binding protein, alpha |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,075,715...42,111,205
Ensembl chr13:42,075,717...42,111,205
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G |
C4bpb |
complement component 4 binding protein, beta |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,120,798...42,131,515
Ensembl chr13:42,120,798...42,131,817
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G |
Cd34 |
CD34 molecule |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:106,480,313...106,500,844
Ensembl chr13:106,480,043...106,499,832
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G |
Cd46 |
CD46 molecule |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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G |
Cd55 |
CD55 molecule (Cromer blood group) |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831
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G |
Cr1l |
complement C3b/C4b receptor 1 like |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
|
NCBI chr13:106,606,952...106,660,442
Ensembl chr13:106,574,858...106,660,445
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G |
Cr2 |
complement C3d receptor 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22035880 PMID:24033266 PMID:25741868 PMID:26193622 PMID:26325596 PMID:28492532 PMID:28499783 PMID:29148534 PMID:29867916 PMID:30075290 PMID:33046446 PMID:34426522 More...
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NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
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G |
Fcamr |
Fc alpha and mu receptor |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,273,891...42,288,002
Ensembl chr13:42,273,628...42,287,113
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G |
Fcmr |
Fc mu receptor |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,337,363...42,351,706
Ensembl chr13:42,337,414...42,351,653
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G |
Il10 |
interleukin 10 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il19 |
interleukin 19 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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G |
Il20 |
interleukin 20 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,380,981...42,384,625
Ensembl chr13:42,380,981...42,384,625
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G |
Il24 |
interleukin 24 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,353,089...42,358,487
Ensembl chr13:42,353,090...42,358,487
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G |
Pfkfb2 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,147,473...42,174,699
Ensembl chr13:42,147,478...42,174,699
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G |
Pigr |
polymeric immunoglobulin receptor |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,298,905...42,326,877
Ensembl chr13:42,298,914...42,326,875
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G |
Plxna2 |
plexin A2 |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:106,163,103...106,358,979
Ensembl chr13:106,163,103...106,358,979
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G |
Yod1 |
YOD1 deubiquitinase |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, common variable, 7 |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,175,047...42,181,661
Ensembl chr13:42,174,820...42,177,205
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G |
Lrba |
LPS responsive beige-like anchor protein |
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ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608502 PMID:22721650 PMID:24033266 PMID:25468195 PMID:25640679 PMID:25741868 PMID:25931386 PMID:26122175 PMID:26206937 PMID:26768763 PMID:27379089 PMID:28197149 PMID:28473463 PMID:28492532 PMID:28720148 PMID:28956255 PMID:29867916 PMID:30363934 PMID:31432443 PMID:31876783 PMID:31887391 PMID:32084423 PMID:32135276 PMID:32154999 PMID:32499645 PMID:32531373 PMID:32707200 PMID:33225392 PMID:33359885 PMID:33481921 PMID:33717114 PMID:33864888 PMID:33942430 PMID:34093558 PMID:34573280 PMID:36074705 More...
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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 |
Mab21l2 |
mab-21 like 2 |
|
ISO |
ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity |
ClinVar |
PMID:25640679 PMID:26206937 PMID:26768763 PMID:28492532 |
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NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655
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G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Reduced protein C activity |
CTD ClinVar |
PMID:1301954 PMID:1301959 PMID:1511988 PMID:1511989 PMID:1868249 PMID:2602169 PMID:3185623 PMID:6589623 PMID:7482420 PMID:7605880 PMID:7670104 PMID:7792728 PMID:7865674 PMID:8128429 PMID:8165644 PMID:8292730 PMID:8462980 PMID:8499565 PMID:8704244 PMID:8807339 PMID:9798967 PMID:10805275 PMID:10942114 PMID:17152060 PMID:18573519 PMID:18954896 PMID:21045961 PMID:21621249 PMID:22545135 PMID:22627591 PMID:22817391 PMID:22944127 PMID:23332921 PMID:23389250 PMID:24028705 PMID:24162787 PMID:24509341 PMID:25637381 PMID:25741868 PMID:25748729 PMID:28111891 PMID:28492532 PMID:28607330 PMID:31064749 PMID:31254973 PMID:31680443 PMID:31980526 PMID:32717757 PMID:34355501 More...
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NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Abcb1a |
ATP binding cassette subfamily B member 1A |
susceptibility |
ISO |
associated with hepatitis C;DNA:SNP: :3435C>T(human) |
RGD |
PMID:28453396 |
RGD:14700902 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Cd86 |
CD86 molecule |
|
ISO |
associated with Hepatitis C, Chronic;protein:increased expression:peripheral blood, B cell (human) |
RGD |
PMID:23840845 |
RGD:11354974 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
associated with hepatitis C; protein:increased expression:serum |
RGD |
PMID:18775023 |
RGD:27095893 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Ifnl3 |
interferon, lambda 3 |
susceptibility severity |
ISO |
associated with Hepatitis C, Chronic;DNA:SNP:enhancer: (rs12979860) (human) |
RGD |
PMID:24293567 PMID:24293567 |
RGD:11528546, RGD:11528546 |
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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G |
Tcn2 |
transcobalamin 2 |
|
ISO |
associated with Glomerulonephritis;protein:increased expression:serum: |
RGD |
PMID:3574578 |
RGD:11060121 |
NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:19860001 |
RGD:10450529 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tslp |
thymic stromal lymphopoietin |
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ISS |
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MouseDO |
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NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Aicda |
activation-induced cytidine deaminase |
|
ISO |
associated with Chronic Hepatitis C; mRNA:increased expression:B cell, CD19-positive (human) |
RGD |
PMID:26219420 |
RGD:30296664 |
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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G |
Tslp |
thymic stromal lymphopoietin |
|
ISO |
associated with Chronic Hepatitis C; mRNA, protein:increased expression:skin, serum (human) |
RGD |
PMID:25889007 |
RGD:38596329 |
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Cd40lg |
CD40 ligand |
|
ISO |
Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230 |
RGD |
PMID:7678782 |
RGD:1599480 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Igkc |
immunoglobulin kappa constant |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3931219 |
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G |
Ung |
uracil-DNA glycosylase |
|
ISO |
Hyper-IgM syndrome 5, OMIM:608106 |
RGD |
PMID:12958596 |
RGD:1599705 |
NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:25741868 |
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NCBI chr X: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 |
|
ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia CTD Direct Evidence: marker/mechanism DNA:mutation:splicing site: |
OMIM ClinVar CTD RGD |
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15229184 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18179816 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25068423 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 PMID:16333836 More...
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RGD:12791265 |
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Fcgr3a |
Fc gamma receptor 3A |
treatment |
ISO |
DNA:polymorphism: :p.V176F (human) |
RGD |
PMID:21538321 |
RGD:11344956 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Hbb |
hemoglobin subunit beta |
|
ISO |
ClinVar Annotator: match by term: Sickle cell-hemoglobin C disease |
ClinVar |
PMID:81926 PMID:909565 PMID:1301203 PMID:1376298 PMID:1680789 PMID:1802884 PMID:1986365 PMID:2030155 PMID:2239966 PMID:2296310 PMID:2412200 PMID:2579336 PMID:2582106 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2898142 PMID:2898460 PMID:3048433 PMID:3267215 PMID:3354556 PMID:3690667 PMID:3752087 PMID:3821796 PMID:4232783 PMID:6061750 PMID:6268660 PMID:6272289 PMID:6280057 PMID:6285354 PMID:6583683 PMID:6584911 PMID:7137165 PMID:7229029 PMID:7384810 PMID:7993409 PMID:8199597 PMID:8201467 PMID:8462981 PMID:9556665 PMID:9859938 PMID:11001883 PMID:11501714 PMID:11713529 PMID:11741197 PMID:11830454 PMID:11880644 PMID:12124399 PMID:12818227 PMID:13066514 PMID:13108995 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13618691 PMID:13685866 PMID:13852872 PMID:14084634 PMID:14405428 PMID:14492555 PMID:14613965 PMID:14808148 PMID:15000665 PMID:15395398 PMID:15543018 PMID:15658184 PMID:15973412 PMID:16001361 PMID:16175509 PMID:17287491 PMID:17774955 PMID:18048408 PMID:18192399 PMID:19061217 PMID:19465909 PMID:19758965 PMID:20236848 PMID:20301551 PMID:20305663 PMID:20628988 PMID:20861612 PMID:20954261 PMID:20981092 PMID:21045822 PMID:21131035 PMID:21302591 PMID:21329186 PMID:21529713 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22244832 PMID:22471768 PMID:22494447 PMID:22625666 PMID:22957039 PMID:22975760 PMID:23065522 PMID:23144702 PMID:23297836 PMID:23591685 PMID:24123366 PMID:24493127 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25488433 PMID:25741868 PMID:26041415 PMID:26275168 PMID:26372199 PMID:26661037 PMID:27117572 PMID:27254408 PMID:27884173 PMID:28251416 PMID:28356267 PMID:28492532 PMID:30002798 PMID:30033078 PMID:30315176 PMID:30604644 PMID:31553106 PMID:32527859 PMID:33091040 PMID:33116287 PMID:34334128 PMID:34749363 PMID:36073655 More...
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NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
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Cavin1 |
caveolae associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120
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Il4r |
interleukin 4 receptor |
no_association |
ISO |
DNA:mutation:cds:p.Q576R(human) |
RGD |
PMID:9537881 |
RGD:11530003 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6st |
interleukin 6 cytokine family signal transducer |
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ISO |
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
ClinVar |
PMID:25741868 PMID:32207811 |
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NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Stat3 |
signal transducer and activator of transcription 3 |
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ISO ISS |
OMIM:147060 ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: Job syndrome CTD Direct Evidence: marker/mechanism |
MouseDO ClinVar CTD OMIM RGD |
PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 PMID:17881745 PMID:17942886 PMID:18591410 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:19348930 PMID:19577286 PMID:20032313 PMID:20048285 PMID:20093388 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21107604 PMID:21288777 PMID:21300911 PMID:21324546 PMID:21690253 PMID:21792878 PMID:22030463 PMID:22084479 PMID:22126402 PMID:22533245 PMID:22581330 PMID:22591296 PMID:22751495 PMID:22859607 PMID:23342295 PMID:23584561 PMID:23584591 PMID:23659370 PMID:23830147 PMID:23926297 PMID:24033266 PMID:24260974 PMID:24350896 PMID:24452316 PMID:24628715 PMID:24797340 PMID:24837465 PMID:24995504 PMID:25038750 PMID:25349174 PMID:25359994 PMID:25543043 PMID:25586472 PMID:25640679 PMID:25739182 PMID:25741868 PMID:25873174 PMID:25962528 PMID:26384563 PMID:26702067 PMID:26743515 PMID:27091139 PMID:27198716 PMID:27226025 PMID:27302695 PMID:27315770 PMID:27345172 PMID:27379089 PMID:27799162 PMID:27884935 PMID:27980540 PMID:28062691 PMID:28098554 PMID:28197791 PMID:28253502 PMID:28315006 PMID:28356514 PMID:28359783 PMID:28424246 PMID:28492532 PMID:28579554 PMID:28587312 PMID:28628107 PMID:28667753 PMID:28977911 PMID:29077208 PMID:29162862 PMID:29180260 PMID:29296824 PMID:29330115 PMID:29378236 PMID:29803798 PMID:29868029 PMID:29931222 PMID:30092289 PMID:30443250 PMID:30617622 PMID:30910759 PMID:30940614 PMID:31002364 PMID:31069200 PMID:31278738 PMID:31558678 PMID:31596517 PMID:31717342 PMID:31737384 PMID:31770611 PMID:31771617 PMID:31774495 PMID:32047491 PMID:32135276 PMID:32188095 PMID:32231398 PMID:32248557 PMID:32273478 PMID:32499645 PMID:32531373 PMID:32768442 PMID:32888943 PMID:32901917 PMID:32915432 PMID:32944025 PMID:33003453 PMID:33060403 PMID:33225311 PMID:33343952 PMID:33365035 PMID:33579790 PMID:33717144 PMID:34060650 PMID:34075200 PMID:34134972 PMID:34137790 PMID:34366294 PMID:34390446 PMID:34619682 PMID:34796988 PMID:35882439 PMID:36240433 PMID:37081481 PMID:17676033 More...
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RGD:6892956 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat5a |
signal transducer and activator of transcription 5A |
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ISO |
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
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Stat5b |
signal transducer and activator of transcription 5B |
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ISO |
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Ccdc40 |
coiled-coil domain 40 molecular ruler complex subunit |
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ISO |
ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS |
ClinVar |
PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 PMID:28492532 More...
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NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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Dock8 |
dedicator of cytokinesis 8 |
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ISO |
ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS DNA:mutation:cds: |
OMIM ClinVar RGD |
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 PMID:18060736 PMID:19776401 PMID:20004785 PMID:20226292 PMID:20622910 PMID:21324546 PMID:22006977 PMID:22476911 PMID:22534316 PMID:23380217 PMID:23859592 PMID:24033266 PMID:24418481 PMID:24673638 PMID:24797421 PMID:25167861 PMID:25640679 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26467025 PMID:26573532 PMID:26659092 PMID:26680607 PMID:26744459 PMID:27379089 PMID:27398204 PMID:27457812 PMID:27872624 PMID:27890707 PMID:27980540 PMID:28070732 PMID:28191889 PMID:28492532 PMID:28750028 PMID:29058101 PMID:29483666 PMID:29867916 PMID:30425284 PMID:30564305 PMID:30697212 PMID:31242861 PMID:31596517 PMID:31980526 PMID:32108967 PMID:32135276 PMID:32531373 PMID:32888943 PMID:33251169 PMID:33290277 PMID:33587123 PMID:33809641 PMID:33854233 PMID:34093558 PMID:34662886 PMID:35753512 PMID:37592284 PMID:39098944 PMID:21763205 More...
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RGD:40907054 |
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Kank1 |
KN motif and ankyrin repeat domains 1 |
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ISO |
ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS |
ClinVar |
PMID:28492532 |
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NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
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Zng1a |
Zn regulated GTPase metalloprotein activator 1A |
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ISO |
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE |
ClinVar |
PMID:33290277 |
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NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629
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Zfp341 |
zinc finger protein 341 |
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ISO |
ClinVar Annotator: match by term: HYPER-IgE SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691 |
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NCBI chr 3:143,122,699...143,156,250
Ensembl chr 3:143,119,093...143,156,249
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Il6st |
interleukin 6 cytokine family signal transducer |
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ISO |
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28747427 PMID:30309848 PMID:32207811 PMID:33771552 More...
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NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Ccdc40 |
coiled-coil domain 40 molecular ruler complex subunit |
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ISO |
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive |
ClinVar |
PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 PMID:28492532 More...
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NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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Dmrt1 |
doublesex and mab-3 related transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
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Dock8 |
dedicator of cytokinesis 8 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome |
CTD ClinVar |
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 PMID:18060736 PMID:19776401 PMID:20004785 PMID:20226292 PMID:20622910 PMID:22006977 PMID:22476911 PMID:22534316 PMID:23380217 PMID:23859592 PMID:24033266 PMID:24418481 PMID:24673638 PMID:24797421 PMID:25167861 PMID:25640679 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26235511 PMID:26467025 PMID:26659092 PMID:26680607 PMID:26744459 PMID:27379089 PMID:27457812 PMID:27872624 PMID:27890707 PMID:27980540 PMID:28070732 PMID:28191889 PMID:28492532 PMID:28750028 PMID:28890024 PMID:29058101 PMID:29483666 PMID:29867916 PMID:30425284 PMID:30564305 PMID:30697212 PMID:31242861 PMID:31596517 PMID:31980526 PMID:32108967 PMID:32135276 PMID:32531373 PMID:32888943 PMID:33251169 PMID:33290277 PMID:33587123 PMID:33809641 PMID:33854233 PMID:34093558 PMID:34662886 PMID:35753512 PMID:37592284 PMID:39098944 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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Dop1a |
DOP1 leucine zipper like protein A |
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ISO |
ClinVar Annotator: match by term: Hyper-IgE syndrome |
ClinVar |
PMID:24698316 |
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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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Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16112032 |
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NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Kank1 |
KN motif and ankyrin repeat domains 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
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Pgm3 |
phosphoglucomutase 3 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgE syndrome |
ClinVar |
PMID:3500672 PMID:24698316 |
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NCBI chr 8:87,518,317...87,536,021
Ensembl chr 8:87,517,701...87,536,022
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Stat3 |
signal transducer and activator of transcription 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome |
CTD ClinVar |
PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:20032313 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21792878 PMID:22751495 PMID:24033266 PMID:25038750 PMID:25741868 PMID:26384563 PMID:27226025 PMID:27799162 PMID:27980540 PMID:28098554 PMID:28315006 PMID:28492532 PMID:29077208 PMID:29868029 More...
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NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Zng1a |
Zn regulated GTPase metalloprotein activator 1A |
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ISO |
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive |
ClinVar |
PMID:33290277 |
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NCBI chr 1:222,568,278...222,612,937
Ensembl chr 1:222,564,545...222,610,629
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Aicda |
activation-induced cytidine deaminase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Cd40 |
CD40 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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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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Ung |
uracil-DNA glycosylase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
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Il6r |
interleukin 6 receptor |
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ISO |
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive |
OMIM ClinVar |
PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509 |
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NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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Stat6 |
signal transducer and activator of transcription 6 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections |
OMIM ClinVar |
PMID:36884218 PMID:37316763 |
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NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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B2m |
beta-2 microglobulin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21793797 |
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NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Tlr9 |
toll-like receptor 9 |
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ISO |
associated with Lupus Erythematosus, Systemic |
RGD |
PMID:23467932 |
RGD:7245987 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Reg1a |
regenerating family member 1 alpha |
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ISO |
mRNA:increased expression:gastric corpus (human) |
RGD |
PMID:10348814 |
RGD:9850135 |
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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Aicda |
activation-induced cytidine deaminase |
susceptibility onset |
ISO |
DNA:splice-site mutation:intron:IVS2+1G>T (human) DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human) DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human) |
RGD |
PMID:11007475 PMID:15372234 PMID:11112359 PMID:17553565 |
RGD:1598906, RGD:11039485, RGD:11039483, RGD:11039457 |
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Cd40 |
CD40 molecule |
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ISO |
DNA:mutations:exons (human) |
RGD |
PMID:11675497 |
RGD:1599479 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Mmab |
metabolism of cobalamin associated B |
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ISO |
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type |
ClinVar |
PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490
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Mvk |
mevalonate kinase |
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ISO |
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type |
OMIM ClinVar |
PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 PMID:10369262 PMID:10401001 PMID:10417275 PMID:10896296 PMID:11111075 PMID:11313768 PMID:11313769 PMID:12387810 PMID:12444096 PMID:12563048 PMID:12634869 PMID:13130485 PMID:15149516 PMID:15188372 PMID:15536479 PMID:15804303 PMID:16197847 PMID:16199547 PMID:16234278 PMID:16255052 PMID:16435210 PMID:16707534 PMID:16835861 PMID:17105862 PMID:17171314 PMID:17576681 PMID:18414213 PMID:18839211 PMID:18941711 PMID:19011501 PMID:19036780 PMID:19120372 PMID:19786432 PMID:19877056 PMID:20194276 PMID:21225694 PMID:21228398 PMID:21399979 PMID:21425920 PMID:21478439 PMID:21548022 PMID:21708801 PMID:22038276 PMID:22246419 PMID:22566169 PMID:22983302 PMID:23006543 PMID:23146290 PMID:23692791 PMID:23707710 PMID:23834120 PMID:23979089 PMID:23998246 PMID:24033266 PMID:24084495 PMID:24088041 PMID:24177804 PMID:24233262 PMID:24360083 PMID:24411001 PMID:24470648 PMID:24531851 PMID:24561416 PMID:24656624 PMID:25149390 PMID:25502423 PMID:25677409 PMID:25708585 PMID:25721923 PMID:25741868 PMID:25866490 PMID:26116953 PMID:26202976 PMID:26299986 PMID:26386126 PMID:26409462 PMID:26633545 PMID:26935981 PMID:26977311 PMID:26986117 PMID:26990548 PMID:27012807 PMID:27142780 PMID:27213830 PMID:27387687 PMID:27899390 PMID:28095071 PMID:28359055 PMID:28492532 PMID:28501347 PMID:28638818 PMID:28814775 PMID:29047407 PMID:29290516 PMID:29599418 PMID:29624229 PMID:31096039 PMID:31278138 PMID:31430439 PMID:31474985 PMID:31664448 PMID:32060250 PMID:32252977 PMID:32312770 PMID:32441320 PMID:32822427 PMID:33042144 PMID:33168400 PMID:33917151 PMID:34145613 PMID:34525209 PMID:34809655 PMID:35387795 PMID:35525811 More...
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NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882
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A2m |
alpha-2-macroglobulin |
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IEP |
protein:increased expression:serum |
RGD |
PMID:9453001 |
RGD:10046046 |
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Alb |
albumin |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10337936 PMID:9034259 |
RGD:11035279 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Gh1 |
growth hormone 1 |
treatment |
ISO |
associated with Sepsis |
RGD |
PMID:10923500 |
RGD:11352734 |
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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G |
Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15044820 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15044820 |
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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 |
Alb |
albumin |
susceptibility |
ISO IAGP |
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RGD |
PMID:7937781 PMID:1690892 |
RGD:1599028, RGD:734959 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Apoa1 |
apolipoprotein A1 |
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IDA |
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RGD |
PMID:2123716 |
RGD:1599161 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
B2m |
beta-2 microglobulin |
susceptibility |
ISO |
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RGD |
PMID:16549777 |
RGD:1599429 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
Gh1 |
growth hormone 1 |
treatment |
ISO |
associated with Liver Cirrhosis |
RGD |
PMID:11986720 |
RGD:11352738 |
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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G |
Lipc |
lipase C, hepatic type |
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IAGP |
protein:reduced expression:plasma (rat) |
RGD |
PMID:10844597 |
RGD:2308785 |
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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G |
Rps6kb1 |
ribosomal protein S6 kinase B1 |
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IDA |
associated with Liver Cirrhosis, Experimental |
RGD |
PMID:16169275 |
RGD:1643028 |
NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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G |
Oas1a |
2'-5' oligoadenylate synthetase 1A |
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ISO |
ClinVar Annotator: match by term: OAS1-related condition | ClinVar Annotator: match by term: Pulmonary alveolar proteinosis with hypogammaglobulinemia |
OMIM ClinVar |
PMID:16014697 PMID:25741868 PMID:28492532 PMID:29185156 PMID:29455859 PMID:34145065 More...
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NCBI chr12:35,669,798...35,680,505
Ensembl chr12:35,669,801...35,680,517
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G |
Ap1m2 |
adaptor related protein complex 1 subunit mu 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:19,838,579...19,856,560
Ensembl chr 8:19,838,580...19,856,482
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G |
Atg4d |
autophagy related 4D, cysteine peptidase |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:19,807,733...19,817,321
Ensembl chr 8:19,807,766...19,817,321
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G |
Cdc37 |
cell division cycle 37, HSP90 cochaperone |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:22402565 PMID:26304966 PMID:28492532 |
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NCBI chr 8:19,677,400...19,690,761
Ensembl chr 8:19,671,938...19,690,809
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G |
Cdkn2d |
cyclin dependent kinase inhibitor 2D |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:19,831,874...19,834,640
Ensembl chr 8:19,831,866...19,834,674
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G |
Dnm2 |
dynamin 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
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G |
Dnmt1 |
DNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:22402565 PMID:26304966 PMID:28492532 |
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NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Fdx2 |
ferredoxin 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:22402565 PMID:26304966 PMID:28492532 |
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NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849
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