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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:severe combined immunodeficiency
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Accession:DOID:627 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems. (DO)
Synonyms:exact_synonym: Bare Lymphocyte Syndrome;   Familial Reticuloendothelioses;   Familial Reticuloendotheliosis;   SCID;   Severe Combined Immune Deficiency;   Severe Combined Immunodeficiencies;   Severe Combined Immunodeficiency Syndrome;   bare lymphocyte syndromes;   combined T and B cell inborn immunodeficiency;   severe combined immunodeficiency disease;   severe combined immunologic deficiency
 narrow_synonym: Severe combined immunodeficiency disease, autosomal
 primary_id: MESH:D016511
 alt_id: OMIA:000220
 xref: GARD:7628;   NCI:C3472
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 2:163,726,571...163,750,239
Ensembl chr 2:163,726,584...163,750,239
JBrowse link
G Ak2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043416, PMID:19043417 NCBI chr 4:128,993,224...129,011,529
Ensembl chr 4:128,991,958...129,011,529
JBrowse link
G Cd3d CD3 antigen, delta polypeptide 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 9:44,981,769...44,987,052
Ensembl chr 9:44,981,786...44,987,339
JBrowse link
G Cd3e CD3 antigen, epsilon polypeptide 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 9:44,998,735...45,009,663
Ensembl chr 9:44,998,740...45,009,627
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 chr 2:3,424,061...3,474,211
Ensembl chr 2:3,424,131...3,464,130
JBrowse link
G Epo erythropoietin IMP Protein: decreased expression:skin RGD PMID:19826948 RGD:2313831 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2342538 RGD:1600060 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il2rg interleukin 2 receptor, gamma chain ISO X-linked SCID, OMIM:300400 RGD PMID:7557965 RGD:1600009 NCBI chr  X:101,264,385...101,268,255
Ensembl chr  X:101,264,378...101,268,255
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 NCBI chr15:9,506,159...9,529,941
Ensembl chr15:9,505,788...9,530,176
JBrowse link
G Jak3 Janus kinase 3 treatment ISO
IMP
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 chr 8:71,676,383...71,690,577
Ensembl chr 8:71,676,296...71,690,575
JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta 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 chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
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 chr 1:162,639,150...162,649,694
Ensembl chr 1:162,639,155...162,649,693
JBrowse link
G Prkdc protein kinase, DNA activated, catalytic polypeptide IAGP
ISO
RGD PMID:9122213, PMID:22981234 RGD:1599202, RGD:8696027 NCBI chr16:15,637,444...15,842,239
Ensembl chr16:15,637,866...15,842,235
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO DNA:deletion RGD PMID:11145714 RGD:1599983 NCBI chr 1:138,062,859...138,175,756
Ensembl chr 1:138,062,861...138,175,708
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 chr15:78,559,169...78,572,783
Ensembl chr15:78,559,167...78,572,783
JBrowse link
G Rag1 recombination activating 1 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
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 2:101,638,252...101,649,532
Ensembl chr 2:101,638,282...101,649,501
JBrowse link
G Rag2 recombination activating gene 2 ISO 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 2:101,624,712...101,632,528
Ensembl chr 2:101,624,718...101,632,529
JBrowse link
G Rfx5 regulatory factor X, 5 (influences HLA class II expression) ISO RGD PMID:7744245, PMID:9401005 RGD:1599743, RGD:1599742 NCBI chr 3:94,950,689...94,961,561
Ensembl chr 3:94,954,075...94,961,561
JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO RGD PMID:12618906 RGD:1599746 NCBI chr 8:70,130,806...70,139,197
Ensembl chr 8:70,130,794...70,139,154
JBrowse link
G Tapbp TAP binding protein ISO type I bare lymphocyte syndrome, OMIM:604571 RGD PMID:12149238 RGD:1599296 NCBI chr17:33,919,478...33,929,290
Ensembl chr17:33,915,899...33,929,292
JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26642240 NCBI chr16:32,608,896...32,632,794
Ensembl chr16:32,608,920...32,632,794
JBrowse link
G Zap70 zeta-chain (TCR) associated protein kinase 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 1:36,761,798...36,782,821
Ensembl chr 1:36,761,798...36,782,818
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
IEA
ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency
OMIM:102700
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
MouseDO
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 2:163,726,571...163,750,239
Ensembl chr 2:163,726,584...163,750,239
JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta 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 chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
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 2:101,638,252...101,649,532
Ensembl chr 2:101,638,282...101,649,501
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 2:101,560,779...101,629,031
Ensembl chr 2:101,560,781...101,649,532
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 2:101,638,252...101,649,532
Ensembl chr 2:101,638,282...101,649,501
JBrowse link
G Rag2 recombination activating gene 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 2:101,624,712...101,632,528
Ensembl chr 2:101,624,718...101,632,529
JBrowse link
coronin-1A deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase A, fructose-bisphosphate ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 7:126,795,234...126,800,994
Ensembl chr 7:126,795,234...126,800,751
Ensembl chr 7:126,795,234...126,800,751
JBrowse link
G Coro1a coronin, actin binding protein 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 7:126,699,774...126,704,816
Ensembl chr 7:126,699,773...126,707,787
JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 7:126,766,414...126,775,645
Ensembl chr 7:126,766,334...126,775,649
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 7:126,759,626...126,765,816
Ensembl chr 7:126,759,601...126,765,819
JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 7:126,785,866...126,792,557
Ensembl chr 7:126,785,866...126,792,496
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 chr 5:65,860,742...65,896,700
Ensembl chr 5:65,861,213...65,896,700
JBrowse link
G Tbx6 T-box 6 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 7:126,781,483...126,785,548
Ensembl chr 7:126,781,483...126,785,560
JBrowse link
G Ypel3 yippee like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr 7:126,776,963...126,780,510
Ensembl chr 7:126,776,955...126,780,514
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 7:102,261,514...102,437,319
Ensembl chr 7:102,267,806...102,437,319
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 chr 5:140,872,999...141,000,596
Ensembl chr 5:140,872,990...141,000,582
JBrowse link
immunodeficiency 15B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkb inhibitor of kappaB kinase beta ISO OMIM NCBI chr 8:22,659,205...22,706,589
Ensembl chr 8:22,659,212...22,706,589
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 9:44,742,143...44,767,808
Ensembl chr 9:44,741,564...44,767,845
JBrowse link
G Atp5l ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,913,248...44,920,742
Ensembl chr 9:44,912,557...44,920,742
JBrowse link
G Bcl9l B cell CLL/lymphoma 9-like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,482,738...44,511,906
Ensembl chr 9:44,482,825...44,511,896
JBrowse link
G Ccdc84 coiled-coil domain containing 84 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,410,159...44,418,084
Ensembl chr 9:44,410,159...44,418,569
JBrowse link
G Cd3d CD3 antigen, delta polypeptide 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 9:44,981,769...44,987,052
Ensembl chr 9:44,981,786...44,987,339
JBrowse link
G Cd3e CD3 antigen, epsilon polypeptide ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,998,735...45,009,663
Ensembl chr 9:44,998,740...45,009,627
JBrowse link
G Cd3g CD3 antigen, gamma polypeptide ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,969,572...44,980,431
Ensembl chr 9:44,969,572...44,980,431
JBrowse link
G Cxcr5 chemokine (C-X-C motif) receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,511,787...44,526,444
Ensembl chr 9:44,511,787...44,561,877
JBrowse link
G Ddx6 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,602,983...44,640,731
Ensembl chr 9:44,604,892...44,640,731
JBrowse link
G Dpagt1 dolichyl-phosphate (UDP-N-acetylglucosamine) acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,325,857...44,333,895
Ensembl chr 9:44,326,019...44,333,900
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,434,234...44,440,868
Ensembl chr 9:44,433,773...44,441,136
JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,334,715...44,336,077
Ensembl chr 9:44,334,694...44,336,077
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,336,348...44,344,228
Ensembl chr 9:44,336,339...44,344,228
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,379,490...44,392,369
Ensembl chr 9:44,379,490...44,392,369
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,770,456...44,792,714
Ensembl chr 9:44,767,908...44,793,447
JBrowse link
G Il10ra interleukin 10 receptor, alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,253,837...45,269,149
Ensembl chr 9:45,253,837...45,269,149
JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,079,153...45,108,531
Ensembl chr 9:45,079,183...45,108,534
JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,803,355...44,881,352
Ensembl chr 9:44,803,355...44,881,296
JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,042,344...45,054,043
Ensembl chr 9:45,039,799...45,054,015
JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,055,181...45,077,437
Ensembl chr 9:45,055,186...45,077,436
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 9:44,686,308...44,735,248
Ensembl chr 9:44,686,304...44,735,198
JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,407,714...44,410,406
Ensembl chr 9:44,407,139...44,410,427
JBrowse link
G Scn2b sodium channel, voltage-gated, type II, beta ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,117,876...45,130,070
Ensembl chr 9:45,117,782...45,130,070
JBrowse link
G Scn4b sodium channel, type IV, beta ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,138,624...45,154,155
Ensembl chr 9:45,138,395...45,154,152
JBrowse link
G Slc37a4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,396,946...44,402,966
Ensembl chr 9:44,396,852...44,402,968
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,793,772...44,799,524
Ensembl chr 9:44,793,769...44,799,307
JBrowse link
G Tmprss4 transmembrane protease, serine 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:45,172,726...45,204,119
Ensembl chr 9:45,172,726...45,204,092
JBrowse link
G Trappc4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,403,755...44,407,548
Ensembl chr 9:44,403,698...44,407,600
JBrowse link
G Treh trehalase (brush-border membrane glycoprotein) ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,673,233...44,686,305
Ensembl chr 9:44,673,233...44,686,305
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,799,400...44,802,951
Ensembl chr 9:44,799,397...44,803,072
JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,923,127...44,965,615
Ensembl chr 9:44,923,127...44,965,600
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,452,715...44,454,767
Ensembl chr 9:44,452,715...44,454,976
JBrowse link
G Vps11 VPS11, CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr 9:44,347,749...44,361,673
Ensembl chr 9:44,347,749...44,361,670
JBrowse link
immunodeficiency 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lck lymphocyte protein tyrosine kinase ISO ClinVar Annotator: match by term: Immunodeficiency 22 ClinVar
OMIM
PMID:22985903, PMID:25741868, PMID:28492532 NCBI chr 4:129,548,344...129,573,641
Ensembl chr 4:129,548,344...129,573,641
JBrowse link
immunodeficiency 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctps cytidine 5'-triphosphate synthase ISO ClinVar Annotator: match by term: Immunodeficiency 24 OMIM
ClinVar
PMID:24870241, PMID:27638562, PMID:28492532 NCBI chr 4:120,539,868...120,570,276
Ensembl chr 4:120,539,868...120,570,276
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 polypeptide 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 chr16:15,637,444...15,842,239
Ensembl chr16:15,637,866...15,842,235
JBrowse link
immunodeficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zap70 zeta-chain (TCR) associated protein kinase 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 1:36,761,798...36,782,821
Ensembl chr 1:36,761,798...36,782,818
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 chr 5:123,015,074...123,030,452
Ensembl chr 5:123,015,074...123,030,456
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 chr14:65,052,059...65,149,899
Ensembl chr14:65,052,060...65,149,855
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 chr 8:71,676,383...71,690,577
Ensembl chr 8:71,676,296...71,690,575
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, sub-family B (MDR/TAP) 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 chr17:34,187,556...34,197,225
Ensembl chr17:34,187,553...34,197,225
JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 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 chr17:34,204,479...34,216,321
Ensembl chr17:34,203,527...34,216,321
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 chr17:33,919,478...33,929,290
Ensembl chr17:33,915,899...33,929,292
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 transactivator severity ISO
IEA
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
OMIM:209920
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
MouseDO
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 chr16:10,480,014...10,531,064
Ensembl chr16:10,480,059...10,528,418
JBrowse link
G Nr2c2ap nuclear receptor 2C2-associated protein ISO ClinVar Annotator: match by term: MHC Class II Deficiency ClinVar PMID:28492532 NCBI chr 8:70,131,327...70,133,752
Ensembl chr 8:70,131,333...70,133,749
JBrowse link
G Rfx5 regulatory factor X, 5 (influences HLA class II expression) 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 3:94,950,689...94,961,561
Ensembl chr 3:94,954,075...94,961,561
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 chr 8:70,130,806...70,139,197
Ensembl chr 8:70,130,794...70,139,154
JBrowse link
G Rfxap regulatory factor X-associated protein 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 II, Complementation Group D
ClinVar
OMIM
PMID:650344, PMID:7021490, PMID:9118943, PMID:9287230, PMID:12498778, PMID:28492532 NCBI chr 3:54,803,115...54,807,791
Ensembl chr 3:54,803,115...54,807,791
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 chr 2:3,424,061...3,474,211
Ensembl chr 2:3,424,131...3,464,130
JBrowse link
G Rag1 recombination activating 1 ISO OMIM NCBI chr 2:101,638,252...101,649,532
Ensembl chr 2:101,638,282...101,649,501
JBrowse link
G Rag2 recombination activating gene 2 ISO
IEA
OMIM:603554 MouseDO
OMIM
PMID:9630231 RGD:1599403 NCBI chr 2:101,624,712...101,632,528
Ensembl chr 2:101,624,718...101,632,529
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 gene 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 2:101,624,712...101,632,528
Ensembl chr 2:101,624,718...101,632,529
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 4:128,993,224...129,011,529
Ensembl chr 4:128,991,958...129,011,529
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 non-homologous 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 1:74,967,346...75,125,226
Ensembl chr 1:74,967,139...75,125,200
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
IEA
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
OMIM:602450
ClinVar Annotator: match by OMIM:602450
ClinVar Annotator: match by synonym: Severe combined immunodeficiency, partial
OMIM
ClinVar
MouseDO
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 chr 2:3,424,061...3,474,211
Ensembl chr 2:3,424,131...3,464,130
JBrowse link
G Lig4 ligase IV, DNA, ATP-dependent 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 chr 8:9,970,020...9,977,680
Ensembl chr 8:9,969,049...9,977,686
JBrowse link
G Meig1 meiosis expressed gene 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation ClinVar PMID:19912631, PMID:28492532 NCBI chr 2:3,409,043...3,422,648
Ensembl chr 2:3,409,043...3,422,648
JBrowse link
G Suv39h2 suppressor of variegation 3-9 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:28492532 NCBI chr 2:3,455,815...3,474,986
Ensembl chr 2:3,455,815...3,475,031
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 2:163,726,571...163,750,239
Ensembl chr 2:163,726,584...163,750,239
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 2:101,560,779...101,629,031
Ensembl chr 2:101,560,781...101,649,532
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 chr 8:71,676,383...71,690,577
Ensembl chr 8:71,676,296...71,690,575
JBrowse link
G Prkdc protein kinase, DNA activated, catalytic polypeptide IEA OMIM:601457 MouseDO NCBI chr16:15,637,444...15,842,239
Ensembl chr16:15,637,866...15,842,235
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 2:101,638,252...101,649,532
Ensembl chr 2:101,638,282...101,649,501
JBrowse link
G Rag2 recombination activating gene 2 ISO
IEA
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:601457
OMIM
ClinVar
MouseDO
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 2:101,624,712...101,632,528
Ensembl chr 2:101,624,718...101,632,529
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 chr 8:71,676,383...71,690,577
Ensembl chr 8:71,676,296...71,690,575
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 CD3 antigen, delta polypeptide ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ClinVar NCBI chr 9:44,981,769...44,987,052
Ensembl chr 9:44,981,786...44,987,339
JBrowse link
G Coro1a coronin, actin binding protein 1A IEA OMIM:608971 MouseDO NCBI chr 7:126,699,774...126,704,816
Ensembl chr 7:126,699,773...126,707,787
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 NCBI chr15:9,506,159...9,529,941
Ensembl chr15:9,505,788...9,530,176
JBrowse link
G Jak3 Janus kinase 3 IEA OMIM:608971 MouseDO NCBI chr 8:71,676,383...71,690,577
Ensembl chr 8:71,676,296...71,690,575
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 chr 1:138,062,859...138,175,756
Ensembl chr 1:138,062,861...138,175,708
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
IEA
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
OMIM:601705
ClinVar Annotator: match by OMIM:601705
OMIM
ClinVar
MouseDO
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 chr11:78,357,577...78,386,783
Ensembl chr11:78,357,577...78,386,558
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 2:164,074,113...164,155,524
Ensembl chr 2:164,070,322...164,155,524
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, gamma chain 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:101,264,385...101,268,255
Ensembl chr  X:101,264,378...101,268,255
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13332
    syndrome 6486
      primary immunodeficiency disease 2052
        combined immunodeficiency 137
          severe combined immunodeficiency 80
            CD3delta deficiency 0
            CD3epsilon deficiency 0
            CD3gamma deficiency 0
            CD3zeta deficiency 0
            CD45 deficiency 0
            Combined Cellular and Humoral Immune Defects with Granulomas 3
            HLA Class 1 Deficiency 0
            Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
            MHC class I deficiency 3
            MHC class II deficiency 5
            Omenn syndrome 3
            Reticuloendotheliosis, X-Linked 0
            Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 1
            Severe Combined Immunodeficiency, Atypical 0
            Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 1
            Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 0
            T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations 1
            T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
            X-linked severe combined immunodeficiency 1
            adenosine deaminase deficiency 3
            coronin-1A deficiency 8
            immunodeficiency 10 1
            immunodeficiency 11A 1
            immunodeficiency 15B 1
            immunodeficiency 19 33
            immunodeficiency 22 1
            immunodeficiency 24 1
            immunodeficiency 26 1
            immunodeficiency 48 1
            immunodeficiency 9 1
            interleukin-7 receptor alpha deficiency 0
            janus kinase-3 deficiency 1
            recombinase activating gene 1 deficiency 0
            recombinase activating gene 2 deficiency 1
            reticular dysgenesis 1
            severe combined immunodeficiency with sensitivity to ionizing radiation 4
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 6
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 5
Path 2
Term Annotations click to browse term
  disease 13332
    disease of anatomical entity 12813
      Immune & Inflammatory Diseases 3133
        immune system disease 2623
          primary immunodeficiency disease 2052
            combined immunodeficiency 137
              severe combined immunodeficiency 80
                CD3delta deficiency 0
                CD3epsilon deficiency 0
                CD3gamma deficiency 0
                CD3zeta deficiency 0
                CD45 deficiency 0
                Combined Cellular and Humoral Immune Defects with Granulomas 3
                HLA Class 1 Deficiency 0
                Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 1
                MHC class I deficiency 3
                MHC class II deficiency 5
                Omenn syndrome 3
                Reticuloendotheliosis, X-Linked 0
                Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 1
                Severe Combined Immunodeficiency, Atypical 0
                Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 1
                Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 0
                T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations 1
                T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1
                X-linked severe combined immunodeficiency 1
                adenosine deaminase deficiency 3
                coronin-1A deficiency 8
                immunodeficiency 10 1
                immunodeficiency 11A 1
                immunodeficiency 15B 1
                immunodeficiency 19 33
                immunodeficiency 22 1
                immunodeficiency 24 1
                immunodeficiency 26 1
                immunodeficiency 48 1
                immunodeficiency 9 1
                interleukin-7 receptor alpha deficiency 0
                janus kinase-3 deficiency 1
                recombinase activating gene 1 deficiency 0
                recombinase activating gene 2 deficiency 1
                reticular dysgenesis 1
                severe combined immunodeficiency with sensitivity to ionizing radiation 4
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 6
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 5
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.