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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
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Accession:DOID:0111962 term browser 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.

show annotations for term's descendants           Sort by:
 
combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID: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 		JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID: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 		JBrowse link
G 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 		JBrowse link
CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Combined Cellular and Humoral Immune Defects with Granulomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO ClinVar Annotator: match by term: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
ClinVar 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 		JBrowse link
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
combined T cell and B cell immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Il2rgem1Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo IMP RGD PMID:20111598 RGD:2316325
G Il2rgem2Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo IMP RGD PMID:20111598 RGD:2316325
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
coronin-1A deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
DNA ligase IV deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
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 		JBrowse link
immunodeficiency 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenps centromere protein S ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:165,946,106...165,955,723 JBrowse link
G 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 		JBrowse link
G Cort cortistatin ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:165,942,780...165,944,221 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:165,966,128...165,982,327 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
immunodeficiency 15A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 15B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
immunodeficiency 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
immunodeficiency 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
immunodeficiency 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 32B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
immunodeficiency 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 JBrowse link
immunodeficiency 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
immunodeficiency 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
immunodeficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency
ClinVar Annotator: match by term: 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 		JBrowse link
immunodeficiency 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
immunodeficiency 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
immunodeficiency 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
immunodeficiency 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
immunodeficiency 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
immunodeficiency 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
immunodeficiency with hyper IgM type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
janus kinase-3 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jak3 Janus kinase 3 ISS OMIM:600802 MouseDO NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668 		JBrowse link
leukocyte adhesion deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
leukocyte adhesion deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
leukocyte adhesion deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
MHC class I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1
ClinVar Annotator: match by term: 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 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1
ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY
ClinVar Annotator: match by 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 		JBrowse link
G 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 		JBrowse link
MHC class II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Omenn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1c DNA cross-link repair 1C ISO OMIM NCBI chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111 		JBrowse link
G Rag1 recombination activating 1 ISO OMIM NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491 		JBrowse link
G 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 		JBrowse link
purine nucleoside phosphorylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
recombinase activating gene 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
reticular dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G Rag1em1Ang recombination activating gene 1; zinc finger nuclease induced mutant 1, Ignacio Anegon IMP RGD PMID:23150522 RGD:7204134
G Rag1em1Ztm recombination activating gene 1; zinc finger nuclease induced mutant 1, Zentrales Tierlaboratorium, Medizinische Hochschule Hannover IMP RGD PMID:23136839 RGD:7204131
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
severe combined immunodeficiency with sensitivity to ionizing radiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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
G Jak3 Janus kinase 3 ISS OMIM:608971 MouseDO NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668 		JBrowse link
G 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 		JBrowse link
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
X-linked severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G Il2rgem1Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo IMP RGD PMID:20111598 RGD:2316325
G Il2rgem2Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo IMP RGD PMID:20111598 RGD:2316325
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      primary immunodeficiency disease 2376
        combined immunodeficiency 148
          B cell and dendritic cell deficiency + 1
          Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia 1
          Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 1
          T cell, B cell, and NK cell deficiency + 1
          combined T cell and B cell immunodeficiency + 55
          immunodeficiency 12 1
          immunodeficiency 33 2
          immunodeficiency 41 1
          immunodeficiency 50 1
          immunodeficiency 55 1
          immunodeficiency 71 1
          immunodeficiency 72 1
          immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis 1
          immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 1
          immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 1
          monocyte, dendritic cell, and NK cell deficiency + 1
          severe combined immunodeficiency + 94
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      Immune & Inflammatory Diseases 3588
        immune system disease 2957
          primary immunodeficiency disease 2376
            combined immunodeficiency 148
              B cell and dendritic cell deficiency + 1
              Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia 1
              Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 1
              T cell, B cell, and NK cell deficiency + 1
              combined T cell and B cell immunodeficiency + 55
              immunodeficiency 12 1
              immunodeficiency 33 2
              immunodeficiency 41 1
              immunodeficiency 50 1
              immunodeficiency 55 1
              immunodeficiency 71 1
              immunodeficiency 72 1
              immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis 1
              immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 1
              immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 1
              monocyte, dendritic cell, and NK cell deficiency + 1
              severe combined immunodeficiency + 94
paths to the root