RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: combined immunodeficiency
Accession: DOID:0111962
browse the term
Definition: A primary immunodeficiency disease that involves multiple components of the immune system. (DO)
For additional species annotation, visit the
Alliance of Genome Resources .
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Adar
adenosine deaminase, RNA-specific
ISO
ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar
PMID:25741868
NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
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Carmil2
capping protein regulator and myosin 1 linker 2
ISO
ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar
PMID:25741868
NCBI chr19:37,652,383...37,665,333
Ensembl chr19:37,652,969...37,668,019
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:22857948 PMID:23233322 PMID:23283745 PMID:24033266 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28615295 PMID:28790153
NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
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Ada
adenosine deaminase
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency ClinVar Annotator: match by term: SCID DUE TO ADA DEFICIENCY, EARLY-ONSET ClinVar Annotator: match by OMIM:102700 ClinVar Annotator: match by synonym: SCID due to ADA deficiency, delayed onset
OMIM ClinVar
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1680289 PMID:1696926 PMID:1974554 PMID:2166947 PMID:2651461 PMID:2758612 PMID:2773932 PMID:2783588 PMID:3007108 PMID:3182793 PMID:3366897 PMID:3475710 PMID:3684597 PMID:3839802 PMID:6208479 PMID:7554472 PMID:7599635 PMID:8023852 PMID:8031011 PMID:8051429 PMID:8120281 PMID:8178821 PMID:8227344 PMID:8258146 PMID:8299233 PMID:8401541 PMID:8589684 PMID:8614422 PMID:8673127 PMID:9108404 PMID:9225964 PMID:9361033 PMID:9414266 PMID:9616253 PMID:9758612 PMID:9806422 PMID:10200056 PMID:11067872 PMID:11160213 PMID:11313286 PMID:11354825 PMID:11807006 PMID:14499267 PMID:16276484 PMID:16825284 PMID:17181544 PMID:17185467 PMID:18952502 PMID:19179314 PMID:19665771 PMID:19830125 PMID:20544538 PMID:21228398 PMID:21410451 PMID:21624848 PMID:21664875 PMID:21865538 PMID:22409989 PMID:22447032 PMID:22764473 PMID:22968453 PMID:23260757 PMID:24033266 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25875700 PMID:25954555 PMID:26255240 PMID:26376800 PMID:27095930 PMID:27129325 PMID:27484032 PMID:27872624 PMID:28266921 PMID:28492532 PMID:29744787 PMID:30290665 PMID:30858051 PMID:31319225
NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:22857948 PMID:23233322 PMID:23283745 PMID:24033266 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28615295 PMID:28790153
NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:11133745 PMID:21664875 PMID:24290284 PMID:24406074 PMID:26476733 PMID:26596586 PMID:28492532 PMID:30290665
NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
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Cd40lg
CD40 ligand
disease_progression
ISO
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) ClinVar Annotator: match by OMIM:308230 DNA:mutations:exon, intron:multiple DNA:missense mutation:exon:p.T169N (526T>A) (human)
ClinVar RGD CTD OMIM
PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 PMID:7679801 PMID:7906987 PMID:7916370 PMID:8094231 PMID:8550833 PMID:8589998 PMID:8889581 PMID:9746782 PMID:10366125 PMID:10484640 PMID:10559240 PMID:10651941 PMID:11158612 PMID:14641931 PMID:15358621 PMID:15611226 PMID:15623492 PMID:15924140 PMID:16019685 PMID:16169277 PMID:16509032 PMID:17146684 PMID:17351759 PMID:18805740 PMID:18955577 PMID:19575287 PMID:20301576 PMID:20591076 PMID:20625427 PMID:20652909 PMID:20981468 PMID:21543760 PMID:21841160 PMID:22750225 PMID:22928961 PMID:22963373 PMID:23622016 PMID:24402618 PMID:25541662 PMID:25741868 PMID:27324886 PMID:28492532 PMID:29077208 , PMID:21841160 , PMID:17553565 , PMID:15358621 , PMID:16508335
RGD:5490298 , RGD:5490298 , RGD:11039457 , RGD:8547781 , RGD:8547779
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Iftap
intraflagellar transport associated protein
ISO
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas
ClinVar
PMID:8810255 PMID:25739914 PMID:28492532
NCBI chr 3:91,086,186...91,195,981
Ensembl chr 3:91,086,186...91,195,981
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas ClinVar Annotator: match by OMIM:233650
OMIM ClinVar
PMID:8810255 PMID:9630231 PMID:10701853 PMID:10891452 PMID:11133745 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:15908971 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18442948 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18822103 PMID:19064334 PMID:19246248 PMID:19458910 PMID:19830075 PMID:19912631 PMID:20109747 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24331380 PMID:24406074 PMID:24418478 PMID:24472623 PMID:24817258 PMID:24985406 PMID:25516070 PMID:25739914 PMID:25741868 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26829731 PMID:27301863 PMID:27609655 PMID:28216420 PMID:28492532 PMID:28747913 PMID:28769923 PMID:28864286 PMID:30290665 PMID:30307608 PMID:30858051
NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
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Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas
OMIM ClinVar
PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:15025726 PMID:16111638 PMID:16960852 PMID:17572155 PMID:18033247 PMID:18463379 PMID:19178939 PMID:19414857 PMID:20234091 PMID:20603253 PMID:21131235 PMID:21502542 PMID:21624848 PMID:21625022 PMID:21664875 PMID:22295088 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:24174341 PMID:24331380 PMID:24481607 PMID:24996264 PMID:25707801 PMID:25739914 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26692406 PMID:26915675 PMID:26996199 PMID:28492532 PMID:28747913 PMID:28769923 PMID:29051008 PMID:29772310 PMID:30305145 PMID:30307608 PMID:31334206 PMID:31388879
NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
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Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
ISO
ClinVar Annotator: match by term: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA ClinVar Annotator: match by term: METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1 DEFICIENCY
ClinVar OMIM
PMID:11004530 PMID:21813566 PMID:23402911 PMID:25633902 PMID:25741868 PMID:27707659 PMID:32414565
NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
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Acp5
acid phosphatase 5, tartrate resistant
ISO
ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation ClinVar Annotator: match by OMIM:607944
OMIM ClinVar
PMID:2363422 PMID:12786759 PMID:13524805 PMID:16470600 PMID:18924170 PMID:21217752 PMID:21217755 PMID:25741868 PMID:26346816 PMID:26789720 PMID:26951490 PMID:27125509 PMID:27718324 PMID:28492532
NCBI chr 8:23,142,733...23,149,067
Ensembl chr 8:23,142,734...23,148,396
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Adar
adenosine deaminase, RNA-specific
ISO
ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar
PMID:25741868
NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
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Arpc1b
actin related protein 2/3 complex, subunit 1B
ISO
ClinVar Annotator: match by term: Combined immunodeficiency ClinVar Annotator: match by term: Congenital combined immunodeficiency
ClinVar
PMID:25741868 PMID:32499645
NCBI chr12:11,252,300...11,265,849
Ensembl chr12:11,252,296...11,265,865
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Bcl11b
BAF chromatin remodeling complex subunit BCL11B
ISO
ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar
PMID:25627829 PMID:27959755
NCBI chr 6:131,834,097...131,927,251
Ensembl chr 6:131,834,097...131,926,272
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Carmil2
capping protein regulator and myosin 1 linker 2
ISO
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar
PMID:25741868 PMID:28112205
NCBI chr19:37,652,383...37,665,333
Ensembl chr19:37,652,969...37,668,019
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Cd27
CD27 molecule
ISO
ClinVar Annotator: match by term: Combined immunodeficiency ClinVar Annotator: match by term: Congenital combined immunodeficiency
ClinVar
PMID:25741868 PMID:25843314 PMID:28492532
NCBI chr 4:157,744,881...157,751,609
Ensembl chr 4:157,744,882...157,750,088
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Cd40lg
CD40 ligand
ISO
DNA:polymorphism: :p.G219R (human)
RGD
PMID:21543760
RGD:5490593
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Il2rg
interleukin 2 receptor subunit gamma
ISO IMP
ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
OMIM ClinVar
PMID:2169613 PMID:7557965 PMID:7632950 PMID:7668284 PMID:7883965 PMID:7973658 PMID:8088810 PMID:8961626 PMID:9049783 PMID:9058718 PMID:9399950 PMID:9633906 PMID:10792291 PMID:11129345 PMID:12126929 PMID:14966353 PMID:18641513 PMID:21184155 PMID:22039266 PMID:23683512 PMID:24534054 PMID:25042067 PMID:25741868 PMID:25869287 PMID:28492532 PMID:28747913 , PMID:20111598
RGD:2316325
NCBI chr X:71,165,378...71,169,078
Ensembl chr X:71,162,585...71,169,865
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Il2rgem1Kyo
interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo
IMP
RGD
PMID:20111598
RGD:2316325
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Il2rgem2Kyo
interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo
IMP
RGD
PMID:20111598
RGD:2316325
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Congenital combined immunodeficiency
ClinVar
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:22857948 PMID:23233322 PMID:23283745 PMID:24033266 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28615295 PMID:28790153
NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
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Tfrc
transferrin receptor
ISO
ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar
PMID:26642240
NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
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Zap70
zeta chain of T cell receptor associated protein kinase 70
ISO
ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar
PMID:25627829 PMID:25741868 PMID:26783323
NCBI chr 9:43,331,149...43,353,097
Ensembl chr 9:43,331,155...43,353,113
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Aldoa
aldolase, fructose-bisphosphate A
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:18836449 PMID:28492532
NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
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Aldoart2
aldolase 1 A retrogene 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:18836449 PMID:28492532
NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
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Coro1a
coronin 1A
ISO
ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar Annotator: match by OMIM:615401
OMIM ClinVar
PMID:18836449 PMID:19097825 PMID:23522482 PMID:25073507 PMID:25741868 PMID:28492532
NCBI chr 1:198,123,883...198,128,890
Ensembl chr 1:198,123,884...198,128,857
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Gdpd3
glycerophosphodiester phosphodiesterase domain containing 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:18836449 PMID:28492532
NCBI chr 1:198,199,032...198,209,178
Ensembl chr 1:198,199,622...198,209,150
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Lrba
LPS responsive beige-like anchor protein
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:25741868
NCBI chr 2:185,590,983...186,110,491
Ensembl chr 2:185,524,774...186,110,495
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Mapk3
mitogen activated protein kinase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:18836449 PMID:28492532
NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
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Ppp4c
protein phosphatase 4, catalytic subunit
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:18836449 PMID:28492532
NCBI chr 1:198,219,012...198,225,775
Ensembl chr 1:198,219,054...198,225,580
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Rhoh
ras homolog family member H
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr14:43,961,756...43,992,587
Ensembl chr14:43,961,756...43,992,587
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Tbx6
T-box transcription factor 6
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:18836449 PMID:28492532
NCBI chr 1:198,214,797...198,218,706
Ensembl chr 1:198,214,797...198,218,706
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Ypel3
yippee-like 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:18836449 PMID:28492532
NCBI chr 1:198,210,525...198,213,821
Ensembl chr 1:198,210,525...198,213,816
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Lig4
DNA ligase 4
ISO
ClinVar Annotator: match by term: Lig4 syndrome ClinVar Annotator: match by term: LIG4-Related Disorders DNA:missense mutation: :p.R278H (mouse) DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human) ClinVar Annotator: match by OMIM:606593 DNA:missense mutation: :p.Y288C (mouse)
OMIM ClinVar
PMID:10395545 PMID:11349135 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:16358361 PMID:16358631 PMID:16585603 PMID:18845326 PMID:23337116 PMID:23372718 PMID:24027040 PMID:24033266 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:26762768 PMID:27063650 PMID:27612988 PMID:27855655 PMID:27893162 PMID:28039949 PMID:28492532 PMID:28866308 PMID:29146883 PMID:30617623 PMID:30719430 , PMID:20133615 , PMID:27063650 , PMID:19451691
RGD:13204717 , RGD:13204707 , RGD:8694074
NCBI chr16:85,331,771...85,339,496
Ensembl chr16:85,331,866...85,337,769
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar
PMID:25741868
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency DNA:mutation:splicing site: ClinVar Annotator: match by OMIM:300291 ClinVar Annotator: match by synonym: EDA-ID
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:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:29077208 , PMID:16333836
RGD:12791265
NCBI chr X:156,254,187...156,280,046
Ensembl chr X:156,257,173...156,270,748
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Stim1
stromal interaction molecule 1
ISO
ClinVar Annotator: match by term: STIM1 DEFICIENCY ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 2 ClinVar Annotator: match by OMIM:612783
OMIM ClinVar
PMID:19420366 PMID:20876309 PMID:21427704 PMID:22190180 PMID:24621671 PMID:25741868 PMID:25918394 PMID:26560041 PMID:28492532
NCBI chr 1:167,373,894...167,533,412
Ensembl chr 1:167,373,678...167,533,420
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Card11
caspase recruitment domain family, member 11
ISO
ClinVar Annotator: match by term: Immunodeficiency 11
OMIM ClinVar
PMID:18323416 PMID:23027925 PMID:23129749 PMID:23374270 PMID:23561803 PMID:24728327 PMID:25352053 PMID:25741868 PMID:26861442 PMID:28492532 PMID:28824638 PMID:29472930 PMID:30170123
NCBI chr12:15,700,600...15,844,512
Ensembl chr12:15,700,825...15,844,512
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Malt1
MALT1 paracaspase
ISO
ClinVar Annotator: match by term: Immunodeficiency 12 ClinVar Annotator: match by OMIM:615468
OMIM ClinVar
PMID:23727036 PMID:24332264 PMID:25741868 PMID:28492532
NCBI chr18:61,108,712...61,162,446
Ensembl chr18:61,109,069...61,162,445
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Cenps
centromere protein S
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:165,946,106...165,955,723
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Clstn1
calsyntenin 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:166,533,262...166,601,686
Ensembl chr 5:166,533,181...166,601,684
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Cort
cortistatin
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:165,942,780...165,944,221
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Ctnnbip1
catenin, beta-interacting protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:166,464,170...166,513,030
Ensembl chr 5:166,464,252...166,513,027
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Dffa
DNA fragmentation factor subunit alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:165,922,893...165,935,822
Ensembl chr 5:165,922,915...165,935,821
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Kif1b
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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Lzic
leucine zipper and CTNNBIP1 domain containing
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:166,430,305...166,443,485
Ensembl chr 5:166,430,400...166,442,284
G
Nmnat1
nicotinamide nucleotide adenylyltransferase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
G
Pex14
peroxisomal biogenesis factor 14
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
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Pgd
phosphogluconate dehydrogenase
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:165,966,128...165,982,327
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
ISO
ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar Annotator: match by OMIM:615513
OMIM ClinVar
PMID:16984281 PMID:24136356 PMID:24165795 PMID:24610295 PMID:25352054 PMID:25741868 PMID:26437962 PMID:26732860 PMID:27426521 PMID:27697496 PMID:28167755 PMID:28492532 PMID:29921932 PMID:30499059
NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
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Rbp7
retinol binding protein 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:166,278,214...166,282,832
Ensembl chr 5:166,278,187...166,282,831
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Ube4b
ubiquitination factor E4B
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:166,156,033...166,259,069
Ensembl chr 5:166,156,033...166,259,069
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15A
OMIM ClinVar
PMID:25741868 PMID:30337470
NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
ISO
OMIM
NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
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Tnfrsf4
TNF receptor superfamily member 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 16
OMIM ClinVar
PMID:23897980 PMID:28492532
NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
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Arcn1
archain 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,051,257...49,075,861
Ensembl chr 8:49,051,246...49,075,892
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Atp5mg
ATP synthase membrane subunit g
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,220,441...49,227,273
Ensembl chr 8:49,220,443...49,227,273
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Bcl9l
BCL9 like
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,805,684...48,835,794
Ensembl chr 8:48,805,684...48,834,312
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Cd3d
CD3d molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar Annotator: match by OMIM:615617
OMIM ClinVar
PMID:10935641 PMID:14602880 PMID:15546002 PMID:21883749 PMID:21926461 PMID:22039266 PMID:23336327 PMID:24290291 PMID:25344390 PMID:27807805 PMID:28492532
NCBI chr 8:49,282,502...49,287,095
Ensembl chr 8:49,282,460...49,287,110
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Cd3e
CD3e molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,297,604...49,309,370
Ensembl chr 8:49,297,608...49,308,806
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Cd3g
CD3g molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,274,553...49,280,943
Ensembl chr 8:49,274,960...49,280,901
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Cenatac
centrosomal AT-AC splicing factor
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,729,695...48,736,574
Ensembl chr 8:48,729,835...48,736,506
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Cxcr5
C-X-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,835,688...48,852,032
Ensembl chr 8:48,836,957...48,850,671
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Ddx6
DEAD-box helicase 6
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,924,768...48,961,394
Ensembl chr 8:48,925,604...48,958,026
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Dpagt1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,657,779...48,664,531
Ensembl chr 8:48,657,795...48,664,860
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Foxr1
forkhead box R1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,754,300...48,762,765
Ensembl chr 8:48,754,736...48,762,342
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H2ax
H2A.X variant histone
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,665,652...48,666,981
Ensembl chr 8:48,665,652...48,666,981
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Hmbs
hydroxymethylbilane synthase
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,667,278...48,674,673
Ensembl chr 8:48,667,275...48,674,748
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Hyou1
hypoxia up-regulated 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,699,796...48,711,912
Ensembl chr 8:48,699,769...48,711,910
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Ift46
intraflagellar transport 46
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,075,978...49,097,689
Ensembl chr 8:49,077,053...49,097,686
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Il10ra
interleukin 10 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,558,062...49,573,891
Ensembl chr 8:49,560,035...49,573,742
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Jaml
junction adhesion molecule like
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,378,644...49,408,894
Ensembl chr 8:49,378,644...49,410,088
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Kmt2a
lysine methyltransferase 2A
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
G
Mpzl2
myelin protein zero-like 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,342,067...49,353,080
Ensembl chr 8:49,342,067...49,353,080
G
Mpzl3
myelin protein zero-like 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,354,257...49,374,444
Ensembl chr 8:49,354,115...49,376,687
G
Phldb1
pleckstrin homology-like domain, family B, member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,997,189...49,045,176
Ensembl chr 8:48,997,184...49,045,154
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Rps25
ribosomal protein s25
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,727,346...48,729,722
Ensembl chr 8:48,727,618...48,729,580
G
Scn2b
sodium voltage-gated channel beta subunit 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,419,003...49,431,110
Ensembl chr 8:49,418,965...49,427,689
G
Scn4b
sodium voltage-gated channel beta subunit 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,441,106...49,456,279
Ensembl chr 8:49,441,106...49,456,279
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Slc37a4
solute carrier family 37 member 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,716,914...48,723,024
Ensembl chr 8:48,716,939...48,723,024
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Tmem25
transmembrane protein 25
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,100,759...49,106,258
Ensembl chr 8:49,100,759...49,106,177
G
Tmprss4
transmembrane serine protease 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,469,804...49,503,304
Ensembl chr 8:49,469,503...49,502,647
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Trappc4
trafficking protein particle complex subunit 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,723,755...48,727,182
Ensembl chr 8:48,723,191...48,727,154
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Treh
trehalase
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,983,802...48,998,072
Ensembl chr 8:48,983,802...48,997,191
G
Ttc36
tetratricopeptide repeat domain 36
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,106,374...49,109,981
Ensembl chr 8:49,106,374...49,109,981
G
Ube4a
ubiquitination factor E4A
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:49,229,713...49,271,894
Ensembl chr 8:49,229,717...49,271,834
G
Upk2
uroplakin 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,772,906...48,774,898
Ensembl chr 8:48,772,906...48,774,898
G
Vps11
VPS11 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:48,677,492...48,692,295
Ensembl chr 8:48,677,492...48,692,295
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Lck
LCK proto-oncogene, Src family tyrosine kinase
ISO
ClinVar Annotator: match by term: Immunodeficiency 22
ClinVar OMIM
PMID:22985903 PMID:25741868 PMID:28492532
NCBI chr 5:147,750,976...147,779,627
Ensembl chr 5:147,750,973...147,761,983
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Dop1a
DOP1 leucine zipper like protein A
ISO
ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar
PMID:14981714 PMID:24033266 PMID:24589341 PMID:24698316 PMID:24931394 PMID:28492532
NCBI chr 8:94,122,733...94,225,131
Ensembl chr 8:94,122,728...94,225,031
G
Me1
malic enzyme 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar
PMID:24931394
NCBI chr 8:94,256,830...94,368,834
Ensembl chr 8:94,256,839...94,368,834
G
Pgm3
phosphoglucomutase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar Annotator: match by OMIM:615816
OMIM ClinVar
PMID:1245758 PMID:3500672 PMID:14981714 PMID:17548465 PMID:24033266 PMID:24589341 PMID:24698316 PMID:24931394 PMID:25741868 PMID:26482871 PMID:28492532
NCBI chr 8:94,225,513...94,243,230
Ensembl chr 8:94,225,515...94,243,215
G
Prss35
serine protease 35
ISO
ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar
PMID:24931394
NCBI chr 8:94,423,629...94,440,509
Ensembl chr 8:94,423,808...94,440,503
G
Rwdd2a
RWD domain containing 2A
ISO
ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar
PMID:24931394
NCBI chr 8:94,243,318...94,246,496
Ensembl chr 8:94,243,372...94,246,496
G
Snap91
synaptosome associated protein 91
ISO
ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar
PMID:24931394
NCBI chr 8:94,447,558...94,564,772
Ensembl chr 8:94,447,550...94,564,525
G
Tpbg
trophoblast glycoprotein
ISO
ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar
PMID:24931394
NCBI chr 8:93,491,761...93,495,132
Ensembl chr 8:93,491,761...93,495,130
G
Ube3d
ubiquitin protein ligase E3D
ISO
ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar
PMID:24931394
NCBI chr 8:93,948,689...94,120,477
Ensembl chr 8:93,948,767...94,120,458
G
Ctps1
CTP synthase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 24
OMIM ClinVar
PMID:24870241 PMID:27638562 PMID:28492532
NCBI chr 5:139,475,934...139,505,065
Ensembl chr 5:139,475,934...139,505,065
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO
ClinVar Annotator: match by term: Immunodeficiency 26 without neurologic abnormalities ClinVar Annotator: match by term: Immunodeficiency 26 with or without neurologic abnormalities
ClinVar OMIM
PMID:19075392 PMID:23722905 PMID:25741868 PMID:26122175 PMID:28492532
NCBI chr11:89,293,547...89,510,948
Ensembl chr11:89,293,696...89,510,871
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Irf8
interferon regulatory factor 8
ISO
ClinVar Annotator: match by term: Immunodeficiency 32b ClinVar Annotator: match by term: IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Monocyte and dendritic cell deficiency, autosomal recessive
ClinVar OMIM CTD
PMID:6279813 PMID:21524210 PMID:25122610 PMID:25741868 PMID:26038974 PMID:27893462 PMID:28492532
NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED
ClinVar
PMID:25741868
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 33 ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated, 2 ClinVar Annotator: match by term: Immunodeficiency without anhidrotic ectodermal dysplasia ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED ClinVar Annotator: match by OMIM:300636
OMIM ClinVar
PMID:11590134 PMID:12459250 PMID:15229184 PMID:15356572 PMID:15577852 PMID:15833888 PMID:16532398 PMID:16818673 PMID:16950813 PMID:18179816 PMID:25068423 PMID:25741868 PMID:28993958 PMID:29534156 PMID:31965418
NCBI chr X:156,254,187...156,280,046
Ensembl chr X:156,257,173...156,270,748
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 36
OMIM ClinVar
PMID:6407320 PMID:7705412 PMID:8574420 PMID:11135494 PMID:12514365 PMID:18384141 PMID:22351933 PMID:23810378 PMID:23810379 PMID:23810382 PMID:23980586 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26529633 PMID:26974159 PMID:27076228 PMID:27116393 PMID:27221134 PMID:27693481 PMID:27766312 PMID:28302518 PMID:28492532 PMID:28632845
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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Bcl10
BCL10, immune signaling adaptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 37
ClinVar OMIM
PMID:25365219 PMID:28492532
NCBI chr 2:251,805,392...251,814,957
Ensembl chr 2:251,805,392...251,814,957
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Dock2
dedicator of cytokinesis 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 40
ClinVar OMIM
PMID:25741868 PMID:26083206 PMID:28492532 PMID:29204803
NCBI chr10:19,181,512...19,603,171
G
Il2ra
interleukin 2 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Interleukin 2 receptor, alpha, deficiency of ClinVar Annotator: match by OMIM:606367
OMIM ClinVar
PMID:17196245 PMID:23261300 PMID:23416241 PMID:24033266 PMID:24116927 PMID:25741868 PMID:28492532
NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
G
Tfrc
transferrin receptor
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 46 ClinVar Annotator: match by term: Immunodeficiency 46
ClinVar OMIM
PMID:25741868 PMID:26642240
NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
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Zap70
zeta chain of T cell receptor associated protein kinase 70
ISO
ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency
OMIM ClinVar
PMID:8124727 PMID:8202712 PMID:8202713 PMID:11412303 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 9:43,331,149...43,353,097
Ensembl chr 9:43,331,155...43,353,113
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Msn
moesin
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 50 ClinVar Annotator: match by term: Immunodeficiency 50
ClinVar OMIM
PMID:24033266 PMID:25741868 PMID:27405666 PMID:28378256 PMID:29556235
NCBI chr X:65,226,834...65,294,192
Ensembl chr X:65,226,748...65,295,810
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Relb
RELB proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 53 ClinVar Annotator: match by term: Immunodeficiency 53
ClinVar OMIM
PMID:25741868 PMID:26385063
NCBI chr 1:80,517,081...80,545,019
Ensembl chr 1:80,517,411...80,544,825
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Gins1
GINS complex subunit 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 55 ClinVar Annotator: match by term: Combined immunodeficiency due to GINS1 deficiency
ClinVar OMIM
PMID:25741868 PMID:28414293
NCBI chr 3:146,695,366...146,716,787
Ensembl chr 3:146,695,344...146,716,816
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Il21r
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: IL21R immunodeficiency ClinVar Annotator: match by OMIM:615207
OMIM ClinVar
PMID:22235133 PMID:23440042 PMID:24033266 PMID:25398835 PMID:25741868 PMID:26193622 PMID:28492532
NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
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Carmil2
capping protein regulator and myosin 1 linker 2
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 58 ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency
ClinVar OMIM
PMID:25741868 PMID:27647349 PMID:27896283 PMID:28112205 PMID:29479355
NCBI chr19:37,652,383...37,665,333
Ensembl chr19:37,652,969...37,668,019
G
Hyou1
hypoxia up-regulated 1
ISO
ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality
OMIM ClinVar
PMID:27913302
NCBI chr 8:48,699,796...48,711,912
Ensembl chr 8:48,699,769...48,711,910
G
Bach2
BTB domain and CNC homolog 2
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 60
OMIM ClinVar
PMID:28530713
NCBI chr 5:47,458,891...47,807,176
Ensembl chr 5:47,546,014...47,807,166
G
Rasgrp1
RAS guanyl releasing protein 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 64
OMIM ClinVar
PMID:25741868 PMID:27776107 PMID:28822832 PMID:29155103 PMID:29282224
NCBI chr 3:108,984,029...109,044,420
Ensembl chr 3:108,984,029...109,044,420
G
Ivns1abp
influenza virus NS1A binding protein
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 70
ClinVar OMIM
PMID:32499645
NCBI chr13:68,702,970...68,722,472
Ensembl chr13:68,702,820...68,722,472
G
Arpc1b
actin related protein 2/3 complex, subunit 1B
ISO
ClinVar Annotator: match by term: PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE ClinVar Annotator: match by term: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
ClinVar OMIM
PMID:25741868 PMID:28368018 PMID:29127144 PMID:30254128 PMID:32499645
NCBI chr12:11,252,300...11,265,849
Ensembl chr12:11,252,296...11,265,865
G
Nckap1l
NCK associated protein 1 like
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION
OMIM ClinVar
PMID:32647003
NCBI chr 7:145,068,239...145,113,507
Ensembl chr 7:145,068,286...145,113,507
G
Rac2
Rac family small GTPase 2
ISO
ClinVar Annotator: match by term: Neutrophil immunodeficiency syndrome
OMIM ClinVar
PMID:10758162 PMID:10961859 PMID:11278678 PMID:14676277 PMID:21167572 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30723080
NCBI chr 7:119,769,708...119,797,111
Ensembl chr 7:119,783,849...119,797,098
G
Rac2
Rac family small GTPase 2
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30654050 PMID:30723080 PMID:31071452
NCBI chr 7:119,769,708...119,797,111
Ensembl chr 7:119,783,849...119,797,098
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Rac2
Rac family small GTPase 2
ISO
OMIM
NCBI chr 7:119,769,708...119,797,111
Ensembl chr 7:119,783,849...119,797,098
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Orai1
ORAI calcium release-activated calcium modulator 1
ISO
ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency ClinVar Annotator: match by term: IMMUNODEFICIENCY 9 ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 1 ClinVar Annotator: match by OMIM:612782
OMIM ClinVar
PMID:7531512 PMID:7798233 PMID:8814256 PMID:16582901 PMID:18187424 PMID:19182790 PMID:20004786 PMID:24033266 PMID:25741868 PMID:26576490 PMID:28492532 PMID:31036819
NCBI chr12:38,981,903...38,995,570
Ensembl chr12:38,981,927...38,995,570
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Cd40
CD40 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3
ClinVar OMIM
PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 PMID:15307939 PMID:15731360 PMID:17344890 PMID:17949264 PMID:18446002 PMID:20702779 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Extl3
exostosin-like glycosyltransferase 3
ISO
ClinVar Annotator: match by term: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities
ClinVar OMIM
PMID:25741868 PMID:28132690 PMID:28148688
NCBI chr15:48,420,419...48,465,171
Ensembl chr15:48,422,492...48,445,592
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Jak3
Janus kinase 3
ISS
OMIM:600802
MouseDO
NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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Itgb2
integrin subunit beta 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency CTD Direct Evidence: marker/mechanism DNA:deletion, nonsense mutations:exons:1622_1657del, 2200G>T (human) DNA:mutations:multiple DNA:mutation:exon:p.R188X(human) DNA:mutations:cds:p.D231H, G284S (human)
ClinVar CTD
PMID:1346613 PMID:1347532 PMID:1590804 PMID:1694220 PMID:1968911 PMID:6142255 PMID:6237120 PMID:7143170 PMID:7686755 PMID:7705401 PMID:9653089 PMID:9884339 PMID:10712675 PMID:10886250 PMID:11703376 PMID:12488604 PMID:17875809 PMID:22134107 PMID:25514840 PMID:25703682 PMID:25741868 PMID:26639818 PMID:28492532 PMID:30412664 , PMID:1968911 , PMID:14512306 , PMID:20549317 , PMID:21103413 , PMID:10886250
RGD:1600220 , RGD:6482225 , RGD:6482224 , RGD:6482223 , RGD:6482222
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
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Fermt3
FERM domain containing kindlin 3
ISO
DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human)
RGD
PMID:19064721
RGD:11352306
NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
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Itgb2
integrin subunit beta 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar Annotator: match by term: Leukocyte adhesion deficiency type 1 ClinVar Annotator: match by OMIM:116920
OMIM ClinVar
PMID:1346613 PMID:1590804 PMID:1968911 PMID:7143170 PMID:7686755 PMID:7705401 PMID:9884339 PMID:10886250 PMID:11703376 PMID:11882363 PMID:12377933 PMID:12488604 PMID:16595236 PMID:17875809 PMID:18675632 PMID:19171538 PMID:20549317 PMID:20807363 PMID:21103413 PMID:22134107 PMID:24033266 PMID:25135596 PMID:25514840 PMID:25703682 PMID:25741868 PMID:25858935 PMID:26639818 PMID:28492532 PMID:30412664
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
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Fermt3
FERM domain containing kindlin 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency, type III DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human) ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:612840
OMIM ClinVar
PMID:12511588 PMID:18779414 PMID:19064721 PMID:19234460 PMID:19234463 PMID:20357244 PMID:21441448 PMID:22134107 PMID:22564402 PMID:25741868 PMID:28492532 , PMID:19234463
RGD:11352305
NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
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Rasgrp2
RAS guanyl releasing protein 2
ISS
OMIM:612840
MouseDO
NCBI chr 1:221,771,238...221,788,765
Ensembl chr 1:221,773,254...221,788,765
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY ClinVar Annotator: match by OMIM:604571
OMIM ClinVar
PMID:3891604 PMID:8640228 PMID:10074494 PMID:16299152 PMID:16624613 PMID:25741868 PMID:28492532
NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
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Tap2
transporter 2, ATP binding cassette subfamily B member
ISO
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY ClinVar Annotator: match by OMIM:604571
OMIM ClinVar
PMID:1570316 PMID:7517574 PMID:10560675 PMID:11529920 PMID:12067308 PMID:23662797 PMID:24033266 PMID:25741868 PMID:26122175 PMID:28492532
NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
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Tapbp
TAP binding protein
ISO
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY ClinVar Annotator: match by OMIM:604571
OMIM ClinVar
PMID:12149238 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr20:5,468,056...5,476,007
Ensembl chr20:5,468,078...5,476,193
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Ciita
class II, major histocompatibility complex, transactivator
severity
ISO
DNA:nonsense mutation:CDS:c.1256G>T, p.E381X (allele 1); DNA:splice-site mutation/deletion:CDS:p.D1078E/c.3349_3432del, p.1079_1106del (allele 2) (human) ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 ClinVar Annotator: match by term: Bare lymphocyte syndrome type 2, complementation group A ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells (human)
ClinVar OMIM
PMID:8402893 PMID:9099848 PMID:11704716 PMID:11862382 PMID:15897313 PMID:24033266 PMID:24044430 PMID:25741868 PMID:26271388 PMID:27484032 PMID:28492532 , PMID:9099848 , PMID:11466404
RGD:1600188 , RGD:5491200
NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
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Nr2c2ap
nuclear receptor 2C2-associated protein
ISO
ClinVar Annotator: match by term: MHC Class II Deficiency
ClinVar
PMID:28492532
NCBI chr16:21,036,648...21,039,481
Ensembl chr16:21,036,646...21,038,844
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Rfx5
regulatory factor X5
ISO
ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 ClinVar Annotator: match by term: Bare lymphocyte syndrome type 2, complementation group E ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c
ClinVar OMIM
PMID:7744245 PMID:9401005 PMID:10079298 PMID:12368908 PMID:24033266 PMID:25741868 PMID:26193622 PMID:28492532
NCBI chr 2:196,119,054...196,128,109
Ensembl chr 2:196,120,580...196,128,095
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Rfxank
regulatory factor X-associated ankyrin-containing protein
ISO
ClinVar Annotator: match by term: MHC Class II Deficiency ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group b
ClinVar OMIM
PMID:7951244 PMID:9806546 PMID:10803838 PMID:11313409 PMID:12618906 PMID:24033266 PMID:25741868 PMID:27980538 PMID:28492532
NCBI chr16:21,029,449...21,037,080
Ensembl chr16:21,029,596...21,037,078
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Rfxap
regulatory factor X-associated protein
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, HLA class ii-negative ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 ClinVar Annotator: match by term: Bare Lymphocyte Syndrome, Type II, Complementation Group D
ClinVar OMIM
PMID:650344 PMID:7021490 PMID:9118943 PMID:9287230 PMID:12498778 PMID:28492532
NCBI chr 2:144,003,453...144,007,636
Ensembl chr 2:144,003,454...144,007,636
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Dclre1c
DNA cross-link repair 1C
ISO
OMIM
NCBI chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111
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Rag1
recombination activating 1
ISO
OMIM
NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
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Rag2
recombination activating 2
ISO
OMIM
PMID:9630231
RGD:1599403
NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
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Pnp
purine nucleoside phosphorylase
ISO
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:613179
OMIM ClinVar CTD
PMID:1384322 PMID:1560016 PMID:3029074 PMID:8931706 PMID:9067751 PMID:9403342 PMID:9737781 PMID:11453975 PMID:12483996 PMID:15571269 PMID:17407325 PMID:19759001 PMID:22132981 PMID:24033266 PMID:24767876 PMID:25741868 PMID:28492532
NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350
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Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: RAG2 deficiency ClinVar Annotator: match by term: Recombinase activating gene 2 deficiency
ClinVar
PMID:25741868 PMID:28492532 PMID:29772310
NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
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Ak2
adenylate kinase 2
ISO
ClinVar Annotator: match by term: Reticular dysgenesis DNA:missense,nonsense mutations:cds: ClinVar Annotator: match by OMIM:267500
OMIM ClinVar
PMID:19043416 PMID:19043417 PMID:23014587 PMID:23763981 PMID:24033266 PMID:25741868 PMID:28331055 PMID:28492532 PMID:29713328 PMID:30697212 , PMID:19043416
RGD:11100026
NCBI chr 5:147,185,474...147,204,050
Ensembl chr 5:147,185,474...147,204,050
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Ada
adenosine deaminase
ISO
ClinVar Annotator: match by term: Severe Combined Immune Deficiency ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar
PMID:498598 PMID:980079 PMID:1284479 PMID:2166947 PMID:2651461 PMID:2758612 PMID:2783588 PMID:3839802 PMID:6208479 PMID:7599635 PMID:8023852 PMID:8178821 PMID:8227344 PMID:8589684 PMID:8673127 PMID:9225964 PMID:9361033 PMID:9758612 PMID:9806422 PMID:14499267 PMID:16825284 PMID:17001642 PMID:18952502 PMID:19179314 PMID:19830125 PMID:21664875 PMID:21865538 PMID:22409989 PMID:22447032 PMID:22764473 PMID:22968453 PMID:23348723 PMID:24033266 PMID:25525159 PMID:25741868 PMID:25875700 PMID:26255240 PMID:26376800 PMID:27129325 PMID:28492532 PMID:29744787 PMID:30290665 , PMID:8227344
RGD:1300353
NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
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Ak2
adenylate kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19043416 PMID:19043417
NCBI chr 5:147,185,474...147,204,050
Ensembl chr 5:147,185,474...147,204,050
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Cd3d
CD3d molecule
ISO
ClinVar Annotator: match by term: Severe Combined Immunodeficiency CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15546002 PMID:28492532 , PMID:14602880
RGD:1549420
NCBI chr 8:49,282,502...49,287,095
Ensembl chr 8:49,282,460...49,287,110
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Cd3e
CD3e molecule
ISO
ClinVar Annotator: match by term: Severe Combined Immunodeficiency ClinVar Annotator: match by term: Severe Combined Immune Deficiency CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15546002 PMID:28492532
NCBI chr 8:49,297,604...49,309,370
Ensembl chr 8:49,297,608...49,308,806
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Dclre1c
DNA cross-link repair 1C
susceptibility
ISO
DNA:deletion:exon ClinVar Annotator: match by term: Omenn syndrome ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar
PMID:24033266 PMID:25741868 , PMID:11336668
RGD:1601049
NCBI chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111
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Epo
erythropoietin
ISO
Protein: decreased expression:skin
RGD
PMID:19826948
RGD:2313831
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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Il2
interleukin 2
ISO
RGD
PMID:2342538
RGD:1600060
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il2rg
interleukin 2 receptor subunit gamma
ISO
X-linked SCID, OMIM:300400
RGD
PMID:7557965
RGD:1600009
NCBI chr X:71,165,378...71,169,078
Ensembl chr X:71,162,585...71,169,865
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Il7r
interleukin 7 receptor
ISO
autosomal recessive T cell(-), B cell(+), NK cell(+) severe combined immunodeficiency, OMIM:608971 ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar
PMID:15661025 PMID:16492442 PMID:17827065 PMID:18255337 PMID:18403192 PMID:18641513 PMID:24759676 PMID:25741868 PMID:27833609 PMID:28492532 , PMID:9843216
RGD:1600151
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Jak3
Janus kinase 3
treatment
ISO
ClinVar Annotator: match by term: Severe Combined Immunodeficiency ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar Annotator: match by term: Severe Combined Immune Deficiency CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:14615376 PMID:15220007 PMID:15661026 PMID:17433830 PMID:17644747 PMID:18559588 PMID:19203666 PMID:21184155 PMID:24033266 PMID:24728327 PMID:25146434 PMID:25741868 PMID:28492532 , PMID:9427607
RGD:11531109
NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:22857948 PMID:23233322 PMID:23283745 PMID:24033266 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28615295 PMID:28790153
NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
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Myoc
myocilin
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:9005853 PMID:9639450 PMID:10815160 PMID:11292420 PMID:11535458 PMID:11803488 PMID:11815346 PMID:12189160 PMID:12522550 PMID:12872267 PMID:17562996 PMID:17615537 PMID:19023451 PMID:20021252 PMID:22933836 PMID:23304066 PMID:24732711 PMID:25741868
NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO IMP
RGD
PMID:9122213 , PMID:22981234
RGD:1599202 , RGD:8696027
NCBI chr11:89,293,547...89,510,948
Ensembl chr11:89,293,696...89,510,871
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Ptprc
protein tyrosine phosphatase, receptor type, C
ISO
DNA:deletion
RGD
PMID:11145714
RGD:1599983
NCBI chr13:55,061,561...55,174,150
Ensembl chr13:55,061,562...55,173,692
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Rac2
Rac family small GTPase 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:25741868 PMID:28492532 PMID:30723080
NCBI chr 7:119,769,708...119,797,111
Ensembl chr 7:119,783,849...119,797,098
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Rag1
recombination activating 1
ISO IMP
ClinVar Annotator: match by term: Severe Combined Immune Deficiency ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar Annotator: match by term: Severe Combined Immunodeficiency Omenn syndrome, OMIM:179615
ClinVar
PMID:8810255 PMID:11133745 PMID:11213808 PMID:11520796 PMID:11908269 PMID:11971977 PMID:17075247 PMID:17572155 PMID:18463379 PMID:18768869 PMID:20956421 PMID:21664875 PMID:24144642 PMID:24290284 PMID:24406074 PMID:25516070 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26476733 PMID:26596586 PMID:27484032 PMID:28492532 PMID:30290665 , PMID:8810255 , PMID:23150522 , PMID:23136839 , PMID:9630231
RGD:1599402 , RGD:7204134 , RGD:7204131 , RGD:1599403
NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
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Rag1em1Ang
recombination activating gene 1; zinc finger nuclease induced mutant 1, Ignacio Anegon
IMP
RGD
PMID:23150522
RGD:7204134
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Rag1em1Ztm
recombination activating gene 1; zinc finger nuclease induced mutant 1, Zentrales Tierlaboratorium, Medizinische Hochschule Hannover
IMP
RGD
PMID:23136839
RGD:7204131
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Rag2
recombination activating 2
ISO IMP
ClinVar Annotator: match by term: Severe Combined Immune Deficiency ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar
PMID:15025726 PMID:18463379 PMID:20603253 PMID:21131235 PMID:21664875 PMID:24174341 PMID:24331380 PMID:24481607 PMID:24996264 PMID:25741868 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26996199 PMID:28492532 PMID:28747913 PMID:28769923 PMID:29051008 PMID:29772310 PMID:30307608 PMID:31334206 PMID:31388879 , PMID:8810255 , PMID:30206106
RGD:1599402 , RGD:38508903
NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
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Rfx5
regulatory factor X5
ISO
RGD
PMID:7744245 , PMID:9401005
RGD:1599743 , RGD:1599742
NCBI chr 2:196,119,054...196,128,109
Ensembl chr 2:196,120,580...196,128,095
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Rfxank
regulatory factor X-associated ankyrin-containing protein
ISO
RGD
PMID:12618906
RGD:1599746
NCBI chr16:21,029,449...21,037,080
Ensembl chr16:21,029,596...21,037,078
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Tapbp
TAP binding protein
ISO
type I bare lymphocyte syndrome, OMIM:604571
RGD
PMID:12149238
RGD:1599296
NCBI chr20:5,468,056...5,476,007
Ensembl chr20:5,468,078...5,476,193
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26642240
NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
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Zap70
zeta chain of T cell receptor associated protein kinase 70
ISO
selective T-cell defect, OMIM:176947 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Severe Combined Immunodeficiency
CTD ClinVar
PMID:8202713 , PMID:8124727
RGD:1599880
NCBI chr 9:43,331,149...43,353,097
Ensembl chr 9:43,331,155...43,353,113
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Nhej1
nonhomologous end-joining factor 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency ClinVar Annotator: match by OMIM:611291
OMIM ClinVar
PMID:12604777 PMID:16439204 PMID:16439205 PMID:16571728 PMID:20597108 PMID:25741868 PMID:26122175 PMID:28492532
NCBI chr 9:82,230,230...82,327,923
Ensembl chr 9:82,230,232...82,327,534
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Dclre1c
DNA cross-link repair 1C
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar Annotator: match by term: Severe combined immunodeficiency, athabascan-type ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation ClinVar Annotator: match by term: Severe combined immunodeficiency, partial ClinVar Annotator: match by OMIM:602450 ClinVar Annotator: match by synonym: Severe combined immunodeficiency, partial
OMIM ClinVar
PMID:11336668 PMID:12055248 PMID:12569164 PMID:12592555 PMID:18223550 PMID:19912631 PMID:19953608 PMID:20674517 PMID:21147755 PMID:21664875 PMID:22527898 PMID:23701501 PMID:24033266 PMID:25741868 PMID:25762520 PMID:25917813 PMID:25981738 PMID:26122175 PMID:26123418 PMID:26476407 PMID:28492532 PMID:29167666
NCBI chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111
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Lig4
DNA ligase 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency
ClinVar
PMID:12471202 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr16:85,331,771...85,339,496
Ensembl chr16:85,331,866...85,337,769
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Meig1
meiosis/spermiogenesis associated 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation
ClinVar
PMID:19912631 PMID:28492532
NCBI chr17:78,813,656...78,829,411
Ensembl chr17:78,817,529...78,829,411
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Suv39h2
suppressor of variegation 3-9 homolog 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency
ClinVar
PMID:28492532
NCBI chr17:78,762,897...78,782,016
Ensembl chr17:78,762,991...78,782,016
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Ada
adenosine deaminase
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
ClinVar
PMID:1346349 PMID:2651461 PMID:2773932 PMID:3182793 PMID:3475710 PMID:8401541 PMID:8614422 PMID:9758612 PMID:25326637 PMID:25741868 PMID:26376800 PMID:28492532
NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
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Iftap
intraflagellar transport associated protein
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
ClinVar
NCBI chr 3:91,086,186...91,195,981
Ensembl chr 3:91,086,186...91,195,981
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
ClinVar
PMID:7481768 PMID:7659163 PMID:10982185 PMID:11668610 PMID:11668621 PMID:11741532 PMID:11781709 PMID:16843266 PMID:17644747 PMID:18270328 PMID:18397343 PMID:19203666 PMID:19282076 PMID:20132407 PMID:20372971 PMID:20400977 PMID:20417861 PMID:21050946 PMID:21599579 PMID:21821710 PMID:21868263 PMID:24033266 PMID:24728327 PMID:25146434 PMID:25157968 PMID:25193870 PMID:25395141 PMID:25505553 PMID:25672756 PMID:25741868 PMID:25815310 PMID:26915675 PMID:28492532 PMID:28747913 PMID:29375547
NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISS
OMIM:601457
MouseDO
NCBI chr11:89,293,547...89,510,948
Ensembl chr11:89,293,696...89,510,871
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative
OMIM ClinVar
PMID:8810255 PMID:9630231 PMID:10891452 PMID:11133745 PMID:11313270 PMID:16276422 PMID:16960852 PMID:17572155 PMID:18701881 PMID:19458910 PMID:21664875 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24033266 PMID:24290284 PMID:24406074 PMID:24418478 PMID:25516070 PMID:25741868 PMID:25869295 PMID:25976673 PMID:26457731 PMID:26476733 PMID:26596586 PMID:27301863 PMID:27609655 PMID:28492532 PMID:30290665
NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
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Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
OMIM ClinVar
PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11313270 PMID:15025726 PMID:16960852 PMID:17572155 PMID:19178939 PMID:19414857 PMID:20234091 PMID:21502542 PMID:21624848 PMID:22295088 PMID:23994475 PMID:24139496 PMID:24174341 PMID:25741868 PMID:25869295 PMID:26457731 PMID:26692406 PMID:27730413 PMID:28492532 PMID:28747913 PMID:28769923 PMID:29051008 PMID:29772310 PMID:30307608
NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
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Jak3
Janus kinase 3
ISO
DNA:point mutation, deletion:CDS:394A>G, pY100C (human) ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type
ClinVar OMIM
PMID:25741868 PMID:28492532 , PMID:7659163
RGD:1600254
NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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Cd3d
CD3d molecule
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
ClinVar
NCBI chr 8:49,282,502...49,287,095
Ensembl chr 8:49,282,460...49,287,110
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Coro1a
coronin 1A
ISS
OMIM:608971
MouseDO
NCBI chr 1:198,123,883...198,128,890
Ensembl chr 1:198,123,884...198,128,857
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Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ClinVar Annotator: match by OMIM:608971
OMIM ClinVar
PMID:9843216 PMID:11023514 PMID:15661025 PMID:16492442 PMID:17827065 PMID:18255337 PMID:18403192 PMID:18641513 PMID:20021794 PMID:21664875 PMID:24033266 PMID:24578017 PMID:24728327 PMID:24759676 PMID:25046553 PMID:25741868 PMID:26123418 PMID:27807805 PMID:27833609 PMID:28492532 PMID:32576985
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Jak3
Janus kinase 3
ISS
OMIM:608971
MouseDO
NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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Ptprc
protein tyrosine phosphatase, receptor type, C
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ClinVar Annotator: match by OMIM:608971
OMIM ClinVar
PMID:10700239 PMID:11145714 PMID:22689986 PMID:25741868 PMID:26915675 PMID:28492532
NCBI chr13:55,061,561...55,174,150
Ensembl chr13:55,061,562...55,173,692
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Foxn1
forkhead box N1
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia and nail dystrophy ClinVar Annotator: match by OMIM:601705
OMIM ClinVar
PMID:8911612 PMID:10206641 PMID:15180707 PMID:15897400 PMID:18339010 PMID:20864124 PMID:20978268 PMID:21507891 PMID:24033266 PMID:25173801 PMID:25741868 PMID:27484032 PMID:28492532 PMID:28636882 PMID:31447097 PMID:31566583
NCBI chr10:65,621,142...65,634,666
Ensembl chr10:65,621,257...65,634,666
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Stk4
serine/threonine kinase 4
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar Annotator: match by OMIM:614868
OMIM ClinVar
PMID:22174160 PMID:22294732 PMID:25741868 PMID:28492532
NCBI chr 3:160,467,552...160,546,540
Ensembl chr 3:160,467,552...160,546,540
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Atp7a
ATPase copper transporting alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
ClinVar
PMID:28492532
NCBI chr X:77,076,085...77,193,644
Ensembl chr X:77,076,106...77,193,644
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Cox7b
cytochrome c oxidase subunit 7B
ISO
ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
ClinVar
PMID:28492532
NCBI chr X:77,065,427...77,071,676
Ensembl chr X:77,065,397...77,071,676
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Magt1
magnesium transporter 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia ClinVar Annotator: match by OMIM:300853
OMIM ClinVar
PMID:21796205 PMID:24550228 PMID:25135935 PMID:25504528 PMID:25741868 PMID:25956530 PMID:28492532 PMID:31036665
NCBI chr X:77,023,423...77,061,603
Ensembl chr X:77,020,402...77,061,667
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Il2rg
interleukin 2 receptor subunit gamma
ISO IMP
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency
ClinVar OMIM
PMID:2169613 PMID:2984567 PMID:7557965 PMID:7632950 PMID:7668284 PMID:7860773 PMID:7883965 PMID:7973658 PMID:8027558 PMID:8088810 PMID:8401490 PMID:8462096 PMID:8522327 PMID:8557662 PMID:8712778 PMID:8781427 PMID:8900089 PMID:8961626 PMID:9049783 PMID:9058718 PMID:9150730 PMID:9150740 PMID:9633906 PMID:9885222 PMID:10444186 PMID:10784449 PMID:10792291 PMID:10794430 PMID:10794431 PMID:11129345 PMID:11213805 PMID:11961146 PMID:12070011 PMID:12126929 PMID:14722921 PMID:14966353 PMID:16760466 PMID:17598841 PMID:18615703 PMID:18641513 PMID:18728247 PMID:18941169 PMID:19398866 PMID:21184155 PMID:22039266 PMID:23374275 PMID:23683512 PMID:24534054 PMID:25326637 PMID:25741868 PMID:25869287 PMID:26525228 PMID:28492532 PMID:28747913 PMID:29658452 PMID:30850927 , PMID:20111598
RGD:2316325
NCBI chr X:71,165,378...71,169,078
Ensembl chr X:71,162,585...71,169,865
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Il2rgem1Kyo
interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo
IMP
RGD
PMID:20111598
RGD:2316325
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Il2rgem2Kyo
interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo
IMP
RGD
PMID:20111598
RGD:2316325
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