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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 Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:23990694, PMID:24033266, PMID:25627829 NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
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 Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:23990694, PMID:24033266, PMID:25627829 NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
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: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 cellular and humoral immune defects with granulomas
ClinVar Annotator: match by term: Combined immunodeficiency with skin 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:22295088, PMID:23243423, PMID:23994475, PMID:24139496, PMID:24144642, PMID:24174341, PMID:24331380, PMID:24481607, PMID:25707801, PMID:25739914, PMID:25741868, PMID:25869295, PMID:26186701, PMID:26457731, PMID:26476733, PMID:26515615, PMID:26692406, PMID:26915675, PMID:28492532, PMID:28747913, PMID:28769923, PMID:29051008, PMID:29772310, PMID:30305145, PMID:30307608 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 Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:23990694, PMID:24033266, PMID:25627829 NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
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:7632950, PMID:7668284, PMID:7883965, PMID:7973658, PMID:8088810, PMID:8961626, PMID:9049783, PMID:9058718, PMID:9399950, PMID:9633906, PMID:10792291, PMID:10794430, PMID:11129345, PMID:12126929, PMID:14966353, PMID:18641513, PMID:21184155, PMID:22039266, PMID:23683512, PMID:24534054, PMID:25443657, PMID:25741868, PMID:25869287, PMID:26525228, PMID:27095930, 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 Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:23990694, PMID:24033266, PMID:25627829 NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
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 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:16357942, PMID:16358361, PMID:16358631, PMID:16585603, PMID:17345618, PMID:18845326, PMID:23337116, PMID:23372718, PMID:24027040, PMID:24033266, PMID:24123394, PMID:24759409, PMID:24892279, PMID:25239263, PMID:25741868, PMID:26151233, PMID:26172957, 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 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:819054, PMID:7705412, PMID:22351933, PMID:23810378, PMID:23810379, PMID:23810382, PMID:25133428, PMID:25488983, PMID:25741868, PMID:25939554, PMID:26497935, PMID:26529633, PMID:27076228, PMID:27116393, PMID:27221134, PMID:27693481, PMID:28302518, PMID:28492532 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: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: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
OMIM
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:11006530, PMID:11081504, PMID:12446913, PMID:12700598, PMID:15630141, PMID:17953510, PMID:19075398, PMID:19443735, PMID:22235133, PMID:23440042, PMID:24033266, PMID:25398835, 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 OMIM 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: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: 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:11703376, PMID:12488604, PMID:17875809, PMID:22134107, PMID:25514840, PMID:25703682, PMID:25741868, PMID:26639818, PMID:28492532, 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 fermitin family member 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: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 fermitin family member 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: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, PMID:30311386 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:18952502, PMID:19179314, PMID:19830125, PMID:21664875, PMID:21865538, PMID:22409989, PMID:22447032, PMID:22764473, PMID:22968453, 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, PMID:30311386 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:23136839, PMID:9630231 RGD:1599402, 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 immunodeficiency disease
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar PMID:15025726, PMID:20603253, PMID:21131235, PMID:24174341, PMID:24481607, PMID:25741868, PMID:26457731, PMID:26476733, PMID:26515615, PMID:28492532, PMID:28747913, PMID:28769923, PMID:29051008, PMID:29772310, PMID:30307608, 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:1447097, PMID:1566583, 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 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 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: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 NCBI chr  X:71,165,378...71,169,078
Ensembl chr  X:71,162,585...71,169,865
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      primary immunodeficiency disease 2346
        combined immunodeficiency 149
          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 + 57
          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 + 91
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Immune & Inflammatory Diseases 3506
        immune system disease 2926
          primary immunodeficiency disease 2346
            combined immunodeficiency 149
              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 + 57
              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 + 91
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.