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G |
CD40LG |
CD40 ligand |
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ISO |
Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230 |
RGD |
PMID:7678782 |
RGD:1599480 |
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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G |
UNG |
uracil DNA glycosylase |
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ISO |
Hyper-IgM syndrome 5, OMIM:608106 |
RGD |
PMID:12958596 |
RGD:1599705 |
NCBI chr12:106,674,073...106,687,054
Ensembl chr12:110,067,879...110,080,891
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G |
CD40 |
CD40 molecule |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM |
ClinVar |
PMID:25741868 |
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NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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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 |
OMIM ClinVar RGD |
PMID:21841160 PMID:25741868 PMID:28492532 |
RGD:5490298 |
NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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G |
G6PD |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:25741868 |
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NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674
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G |
IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia |
OMIM ClinVar |
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 More...
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NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092
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G |
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 chr17:14,892,936...14,914,017
Ensembl chr17:15,117,091...15,139,223
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G |
IL4R |
interleukin 4 receptor |
no_association |
ISO |
DNA:mutation:cds:p.Q576R(human) |
RGD |
PMID:9537881 |
RGD:11530003 |
Ensembl chr16:27,642,702...27,737,445
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G |
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 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817
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G |
LOC100988550 |
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 chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783
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G |
LOC100989105 |
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 chr17:15,040,303...15,116,682
Ensembl chr17:15,306,418...15,336,463
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G |
STAT3 |
signal transducer and activator of transcription 3 |
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ISO |
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 |
OMIM ClinVar |
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:36228738 PMID:36240433 PMID:36630607 PMID:37081481 More...
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NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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G |
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 chr17:74,120,483...74,187,323
Ensembl chr17:79,656,287...79,722,565
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G |
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 |
OMIM ClinVar |
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 More...
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NCBI chr 9:6,791...256,837
Ensembl chr 9:201,156...446,910
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G |
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 9:550,713...556,230
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G |
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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G |
ZNF341 |
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 chr20:30,018,348...30,079,721
Ensembl chr20:31,164,597...31,218,282
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G |
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 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817
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G |
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 chr17:74,120,483...74,187,323
Ensembl chr17:79,656,287...79,722,565
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G |
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 9:650,678...778,519
Ensembl chr 9:844,366...972,656
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G |
DOCK8 |
dedicator of cytokinesis 8 |
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ISO |
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 |
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 9:6,791...256,837
Ensembl chr 9:201,156...446,910
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G |
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 6:80,964,118...81,065,351
Ensembl chr 6:84,238,657...84,339,687
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G |
IFNG |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16112032 |
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NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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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 9:550,713...556,230
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G |
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 6:81,062,356...81,090,215
Ensembl chr 6:84,336,092...84,364,515
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G |
STAT3 |
signal transducer and activator of transcription 3 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgE syndrome |
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: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 chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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G |
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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G |
AICDA |
activation induced cytidine deaminase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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G |
CD40 |
CD40 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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G |
UNG |
uracil DNA glycosylase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr12:106,674,073...106,687,054
Ensembl chr12:110,067,879...110,080,891
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G |
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 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
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G |
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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Ensembl chr12:32,068,679...32,085,099
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G |
AICDA |
activation induced cytidine deaminase |
onset susceptibility |
ISO |
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) DNA:splice-site mutation:intron:IVS2+1G>T (human) |
RGD |
PMID:11007475 PMID:11112359 PMID:15372234 PMID:17553565 |
RGD:11039457 RGD:11039483 RGD:11039485 RGD:1598906 |
NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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G |
CD40 |
CD40 molecule |
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ISO |
DNA:mutations:exons (human) |
RGD |
PMID:11675497 |
RGD:1599479 |
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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G |
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 chr12:107,130,410...107,150,274
Ensembl chr12:110,528,043...110,544,871
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G |
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:29451047 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:33505305 PMID:33917151 PMID:34145613 PMID:34525209 PMID:34809655 PMID:35387795 PMID:35525811 More...
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NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524
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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 chr19:10,124,413...10,139,396
Ensembl chr19:10,785,627...10,801,615
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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 chr19:10,095,768...10,105,250
Ensembl chr19:10,758,544...10,767,712
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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 chr19:9,942,644...9,955,112
Ensembl chr19:10,606,246...10,618,702
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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 chr19:10,118,302...10,120,957
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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 chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
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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 chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
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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 chr19:9,860,316...9,866,442
Ensembl chr19:10,526,287...10,532,152
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G |
ICAM1 |
intercellular adhesion molecule 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 chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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ICAM3 |
intercellular adhesion molecule 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:22402565 PMID:26304966 PMID:28492532 |
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G |
ICAM4 |
intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:22402565 PMID:26304966 PMID:28492532 |
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NCBI chr19:9,837,157...9,838,862
Ensembl chr19:10,501,005...10,502,176
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G |
ICAM5 |
intercellular adhesion molecule 5 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:22402565 PMID:26304966 PMID:28492532 |
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NCBI chr19:9,839,821...9,847,198
Ensembl chr19:10,504,037...10,511,716
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G |
ILF3 |
interleukin enhancer binding factor 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:28492532 |
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NCBI chr19:10,206,636...10,244,779
Ensembl chr19:10,867,143...10,905,953
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G |
KEAP1 |
kelch like ECH associated protein 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 chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604
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G |
KRI1 |
KRI1 homolog |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:28492532 |
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NCBI chr19:10,104,944...10,117,905
Ensembl chr19:10,767,384...10,780,254
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G |
MRPL4 |
mitochondrial ribosomal protein L4 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:22402565 PMID:26304966 PMID:28492532 |
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NCBI chr19:9,802,353...9,810,433
Ensembl chr19:10,465,461...10,473,548
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G |
PDE4A |
phosphodiesterase 4A |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:22402565 PMID:26304966 PMID:28492532 |
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NCBI chr19:9,956,019...10,020,538
Ensembl chr19:10,632,273...10,681,944
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G |
QTRT1 |
queuine tRNA-ribosyltransferase catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:28492532 |
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NCBI chr19:10,255,479...10,267,367
Ensembl chr19:10,916,330...10,928,899
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G |
RAVER1 |
ribonucleoprotein, PTB binding 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 chr19:9,866,631...9,883,833
Ensembl chr19:10,532,362...10,549,142
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G |
S1PR2 |
sphingosine-1-phosphate receptor 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 chr19:9,771,888...9,781,944
Ensembl chr19:10,436,502...10,437,563
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G |
S1PR5 |
sphingosine-1-phosphate receptor 5 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:28492532 |
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NCBI chr19:10,064,332...10,069,999
Ensembl chr19:10,727,527...10,728,728
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SLC44A2 |
solute carrier family 44 member 2 (CTL2 blood group) |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 |
ClinVar |
PMID:28492532 |
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NCBI chr19:10,154,320...10,196,898
Ensembl chr19:10,815,820...10,857,693
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TYK2 |
tyrosine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY |
OMIM ClinVar |
PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 PMID:21680795 PMID:22402565 PMID:24033266 PMID:25388448 PMID:25741868 PMID:25849893 PMID:26288847 PMID:26304966 PMID:27615517 PMID:27872624 PMID:28492532 PMID:29725107 PMID:30578352 PMID:31118190 PMID:32537443 PMID:33260630 PMID:33667394 PMID:34569645 PMID:35708626 More...
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NCBI chr19:9,901,612...9,932,623
Ensembl chr19:10,565,490...10,594,541
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G |
ZGLP1 |
zinc finger GATA like protein 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 chr19:9,855,211...9,860,326
Ensembl chr19:10,520,360...10,524,757
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G |
CD40 |
CD40 molecule |
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ISO |
ClinVar Annotator: match by term: CD40-related condition | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 |
OMIM ClinVar |
PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 PMID:15307939 PMID:15731360 PMID:17344890 PMID:17949264 PMID:18446002 PMID:20702779 PMID:22342113 PMID:24033266 PMID:24122029 PMID:25741868 PMID:28492532 PMID:35729272 PMID:36808635 More...
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NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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G |
ACACB |
acetyl-CoA carboxylase beta |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 |
ClinVar |
PMID:28492532 |
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NCBI chr12:106,692,668...106,845,490
Ensembl chr12:110,086,374...110,239,847
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UNG |
uracil DNA glycosylase |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5 |
OMIM ClinVar |
PMID:9536098 PMID:12958596 PMID:15967827 PMID:16199547 PMID:17029639 PMID:17576681 PMID:21167187 PMID:22252118 PMID:22521144 PMID:23545420 PMID:25741868 PMID:28492532 PMID:29546359 More...
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NCBI chr12:106,674,073...106,687,054
Ensembl chr12:110,067,879...110,080,891
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G |
AICDA |
activation induced cytidine deaminase |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 |
OMIM ClinVar |
PMID:9536098 PMID:11007475 PMID:11112359 PMID:12715918 PMID:12910268 PMID:14564357 PMID:14769937 PMID:14962793 PMID:15358621 PMID:15893695 PMID:16199547 PMID:16964591 PMID:17560278 PMID:17576681 PMID:18838546 PMID:20652909 PMID:21192628 PMID:22715099 PMID:23803409 PMID:24033266 PMID:24349193 PMID:24591601 PMID:25025377 PMID:25064858 PMID:25741868 PMID:26551569 PMID:27142677 PMID:27577878 PMID:28492532 PMID:32423680 PMID:33377626 PMID:34992599 More...
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NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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G |
CLEC4D |
C-type lectin domain family 4 member D |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 |
ClinVar |
PMID:16964591 PMID:28492532 |
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NCBI chr12:8,599,654...8,608,494
Ensembl chr12:8,814,680...8,823,484
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G |
CLEC4E |
C-type lectin domain family 4 member E |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 |
ClinVar |
PMID:16964591 PMID:28492532 |
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NCBI chr12:8,620,618...8,627,610
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G |
CLEC6A |
C-type lectin domain containing 6A |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 |
ClinVar |
PMID:16964591 PMID:28492532 |
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NCBI chr12:8,537,766...8,560,736
Ensembl chr12:8,752,778...8,775,738
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G |
TNFRSF13B |
TNF receptor superfamily member 13B |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 2 |
ClinVar |
PMID:16007086 PMID:16007087 PMID:17392798 PMID:18981294 PMID:21547394 PMID:22884984 PMID:23956760 PMID:25741868 PMID:26046366 PMID:26100089 PMID:27123465 PMID:28492532 More...
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NCBI chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053
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G |
TNFRSF13B |
TNF receptor superfamily member 13B |
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ISO |
ClinVar Annotator: match by term: IgA, selective deficiency of, TACI related | ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 |
OMIM 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:19605846 PMID:19629655 PMID:19779048 PMID:20156508 PMID:20676093 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23225259 PMID:23237420 PMID:23956760 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26046366 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30301590 PMID:30665703 PMID:30723478 PMID:30739909 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33046446 PMID:33258288 PMID:33726816 PMID:34426522 More...
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NCBI chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053
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G |
AHI1 |
Abelson helper integration site 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27723758 |
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NCBI chr 6:133,055,026...133,273,591
Ensembl chr 6:137,156,237...137,361,232
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G |
CLEC16A |
C-type lectin domain containing 16A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20694011 PMID:27723758 |
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NCBI chr16:9,887,877...10,124,500
Ensembl chr16:11,109,869...11,343,512
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
susceptibility |
ISO |
DNA:SNPs,haplotype: :rs231770,rs16840252,rs231775(human) |
RGD |
PMID:19020530 |
RGD:11344917 |
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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G |
ICOS |
inducible T cell costimulator |
susceptibility |
ISO |
DNA:SNPs,haplotype: :rs4521021,rs10172036(human) |
RGD |
PMID:19020530 |
RGD:11344917 |
NCBI chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734
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G |
IFIH1 |
interferon induced with helicase C domain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20694011 PMID:27723758 |
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NCBI chr2B:49,560,620...49,612,086
Ensembl chr2B:166,928,994...166,980,170
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G |
LOC100972994 |
HLA class II histocompatibility antigen, DQ beta 1 chain |
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ISO |
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RGD |
PMID:10931389 PMID:22291608 |
RGD:11041755 RGD:11041756 |
NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
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G |
TNFRSF13B |
TNF receptor superfamily member 13B |
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ISO |
ClinVar Annotator: match by term: IgAD1 |
ClinVar |
PMID:17697196 PMID:18200502 PMID:18981294 PMID:21419480 PMID:21458042 PMID:21850030 PMID:22627058 PMID:22697072 PMID:22884984 PMID:25741868 PMID:27123465 PMID:28492532 PMID:30290665 PMID:31681265 PMID:34975878 PMID:35686370 PMID:37652172 PMID:37678716 More...
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NCBI chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053
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G |
IFNG |
interferon gamma |
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ISO |
mRNA:decreased expression:peripheral blood leukocyte: |
RGD |
PMID:9042436 |
RGD:10755693 |
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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G |
ADGRG4 |
adhesion G protein-coupled receptor G4 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,424,181...125,546,128
Ensembl chr X:135,694,869...135,812,388
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G |
AICDA |
activation induced cytidine deaminase |
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ISO |
ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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G |
ARHGEF6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,794,158...125,909,809
Ensembl chr X:136,058,879...136,176,110
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G |
BRS3 |
bombesin receptor subtype 3 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,617,592...125,623,411
Ensembl chr X:135,883,613...135,888,069
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G |
CD40 |
CD40 molecule |
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ISO |
ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome |
ClinVar |
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NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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G |
CD40LG |
CD40 ligand |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome |
ClinVar |
PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 PMID:7679801 PMID:7717401 PMID:7906987 PMID:7907793 PMID:7916370 PMID:8094231 PMID:8550833 PMID:8589998 PMID:8889581 PMID:9150729 PMID:9536098 PMID:9605317 PMID:9746782 PMID:10366125 PMID:10484640 PMID:10559240 PMID:10651941 PMID:11038461 PMID:11158612 PMID:11850600 PMID:14514918 PMID:14641931 PMID:15319456 PMID:15358621 PMID:15623492 PMID:15924140 PMID:16019685 PMID:16169277 PMID:16199547 PMID:16509032 PMID:17146684 PMID:17351759 PMID:17553565 PMID:17576681 PMID:18342287 PMID:18805740 PMID:18955577 PMID:19575287 PMID:20301576 PMID:20591076 PMID:20652909 PMID:20981468 PMID:21465648 PMID:21543760 PMID:22009004 PMID:22193914 PMID:22750225 PMID:22928961 PMID:22963373 PMID:23622016 PMID:23653974 PMID:24123890 PMID:24402618 PMID:24768948 PMID:24929972 PMID:25215306 PMID:25541662 PMID:25741868 PMID:26545377 PMID:26997321 PMID:27189378 PMID:27324886 PMID:27484504 PMID:28492532 PMID:28916186 PMID:29077208 PMID:29525420 PMID:30053428 PMID:30405923 PMID:31117086 PMID:31179555 PMID:31331973 PMID:32888943 PMID:33060515 PMID:34335625 PMID:35570134 PMID:35572607 PMID:35753512 PMID:35874699 PMID:36478253 More...
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NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202
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G |
FHL1 |
four and a half LIM domains 1 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,270,340...125,334,961
Ensembl chr X:135,559,321...135,602,375
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G |
GPR101 |
G protein-coupled receptor 101 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:126,149,803...126,159,844
Ensembl chr X:136,418,522...136,420,048
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G |
HTATSF1 |
HIV-1 Tat specific factor 1 |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,626,714...125,641,988
Ensembl chr X:135,892,697...135,910,919
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G |
MAP7D3 |
MAP7 domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,337,678...125,375,182
Ensembl chr X:135,605,208...135,646,956
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G |
RBMX |
RNA binding motif protein X-linked |
|
ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,997,989...126,009,525
Ensembl chr X:136,264,406...136,275,360
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G |
SLC9A6 |
solute carrier family 9 member A6 |
|
ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,099,378...125,171,161
Ensembl chr X:135,378,094...135,439,781
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G |
UNG |
uracil DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome |
ClinVar |
|
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NCBI chr12:106,674,073...106,687,054
Ensembl chr12:110,067,879...110,080,891
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G |
VGLL1 |
vestigial like family member 1 |
|
ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:125,660,337...125,685,373
Ensembl chr X:135,926,371...135,951,303
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G |
ZIC3 |
Zic family member 3 |
|
ISO |
ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:126,691,534...126,705,788
Ensembl chr X:136,954,024...136,967,819
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