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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 IAGP 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 chr20:44,619,522...44,651,699
Ensembl chr20:44,619,522...44,652,233
JBrowse link
G AK2 adenylate kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19043416, PMID:19043417 NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,940...33,080,996
JBrowse link
G CD3D CD3d molecule IAGP
EXP
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar
CTD
PMID:15546002, PMID:28492532, PMID:14602880 RGD:1549420 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705
Ensembl chr11:118,339,075...118,342,705
JBrowse link
G CD3E CD3e molecule IAGP
EXP
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15546002, PMID:28492532 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
Ensembl chr11:118,304,730...118,316,175
JBrowse link
G DCLRE1C DNA cross-link repair 1C susceptibility IAGP DNA:deletion:exon
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar PMID:24033266, PMID:25741868, PMID:11336668 RGD:1601049 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G EPO erythropoietin ISO Protein: decreased expression:skin RGD PMID:19826948 RGD:2313831 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G IL2 interleukin 2 IEP mRNA:decreased_expression::no detectable IL2 mRNA RGD PMID:2342538 RGD:1600060 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP X-linked SCID, OMIM:300400 RGD PMID:7557965 RGD:1600009 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108
JBrowse link
G IL7R interleukin 7 receptor IAGP autosomal recessive T cell(-), B cell(+), NK cell(+) severe combined immunodeficiency, OMIM:608971 DNA:point_mutation:CDS:C->T, amino acid T66I
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
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 chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
JBrowse link
G JAK3 Janus kinase 3 treatment ISO
IAGP
EXP
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
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 chr19:17,824,782...17,848,071
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G MYH7 myosin heavy chain 7 IAGP 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 chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G MYOC myocilin IAGP 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 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688
JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO RGD PMID:9122213, PMID:22981234 RGD:1599202, RGD:8696027 NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178
Ensembl chr 8:47,773,111...47,960,178
JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C IAGP DNA:deletion RGD PMID:11145714 RGD:1599983 NCBI chr 1:198,639,025...198,757,476
Ensembl chr 1:198,638,457...198,757,476
JBrowse link
G RAC2 Rac family small GTPase 2 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868, PMID:28492532, PMID:30723080 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,244,448
JBrowse link
G RAG1 recombination activating 1 IAGP
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
missense mutations in both genes Omenn syndrome, OMIM:179615 , OMIM:179616
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 chr11:36,510,353...36,579,762
Ensembl chr11:36,510,709...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
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 chr11:36,591,943...36,598,236
Ensembl chr11:36,575,574...36,598,279
JBrowse link
G RFX5 regulatory factor X5 IAGP RGD PMID:7744245, PMID:9401005 RGD:1599743, RGD:1599742 NCBI chr 1:151,340,640...151,347,319
Ensembl chr 1:151,340,640...151,347,357
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP RGD PMID:12618906 RGD:1599746 NCBI chr19:19,192,258...19,201,869
Ensembl chr19:19,192,229...19,201,869
JBrowse link
G TAPBP TAP binding protein IAGP type I bare lymphocyte syndrome, OMIM:604571 RGD PMID:12149238 RGD:1599296 NCBI chr 6:33,299,694...33,314,254
Ensembl chr 6:33,299,694...33,314,387
JBrowse link
G TFRC transferrin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:26642240 NCBI chr 3:196,018,694...196,082,123
Ensembl chr 3:196,027,183...196,082,096
JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP
EXP
selective T-cell defect, OMIM:176947
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
CTD
ClinVar
PMID:8202713, PMID:8124727 RGD:1599880 NCBI chr 2:97,712,030...97,744,327
Ensembl chr 2:97,713,576...97,739,862
Ensembl chr 2:97,713,576...97,739,862
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 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency
ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset
ClinVar
OMIM
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 chr20:44,619,522...44,651,699
Ensembl chr20:44,619,522...44,652,233
JBrowse link
G MYH7 myosin heavy chain 7 IAGP 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 chr14:23,412,740...23,435,677
Ensembl chr14:23,412,740...23,435,660
JBrowse link
G RAG1 recombination activating 1 IAGP 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 chr11:36,510,353...36,579,762
Ensembl chr11:36,510,709...36,593,156
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 IAGP ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas ClinVar PMID:8810255, PMID:25739914, PMID:28492532 NCBI chr11:36,594,246...36,659,272
Ensembl chr11:36,594,493...36,659,290
JBrowse link
G RAG1 recombination activating 1 IAGP ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas ClinVar
OMIM
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 chr11:36,510,353...36,579,762
Ensembl chr11:36,510,709...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
ClinVar
OMIM
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 chr11:36,591,943...36,598,236
Ensembl chr11:36,575,574...36,598,279
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 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr16:30,053,090...30,070,420
Ensembl chr16:30,053,090...30,070,420
Ensembl chr16:30,053,090...30,070,420
Ensembl chr16:30,053,090...30,070,420
JBrowse link
G ALDOA aldolase, fructose-bisphosphate A IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
Ensembl chr16:30,064,164...30,070,457
JBrowse link
G CORO1A coronin 1A IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar
OMIM
PMID:18836449, PMID:19097825, PMID:23522482, PMID:25073507, PMID:25741868, PMID:28492532 NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076
JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr16:30,104,810...30,113,537
Ensembl chr16:30,104,810...30,113,537
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr16:30,114,105...30,123,309
Ensembl chr16:30,114,105...30,123,506
JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr16:30,075,994...30,085,377
Ensembl chr16:30,075,978...30,085,376
JBrowse link
G RHOH ras homolog family member H IAGP ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,053...40,246,967
JBrowse link
G TBX6 T-box transcription factor 6 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr16:30,085,793...30,091,927
Ensembl chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924
JBrowse link
G YPEL3 yippee like 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 NCBI chr16:30,092,314...30,096,213
Ensembl chr16:30,092,314...30,096,915
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 IAGP ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 2
ClinVar Annotator: match by term: STIM1 DEFICIENCY
ClinVar
OMIM
PMID:19420366, PMID:20876309, PMID:21427704, PMID:22190180, PMID:24621671, PMID:25741868, PMID:25918394, PMID:26560041, PMID:28492532 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
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 IAGP ClinVar Annotator: match by term: Immunodeficiency 11 ClinVar
OMIM
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 7:2,906,142...3,043,867
Ensembl chr 7:2,906,141...3,043,945
JBrowse link
G CARD11-AS1 CARD11 antisense RNA 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 11 ClinVar PMID:28492532 NCBI chr 7:2,944,554...2,947,091 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 IAGP OMIM NCBI chr 8:42,270,727...42,332,460
Ensembl chr 8:42,271,302...42,332,653
JBrowse link
immunodeficiency 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARCN1 archain 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,572,396...118,603,033
Ensembl chr11:118,572,390...118,603,033
JBrowse link
G ATP5MG ATP synthase membrane subunit g IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,401,606...118,409,847
Ensembl chr11:118,401,606...118,431,496
JBrowse link
G BCL9L BCL9 like IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,896,136...118,926,071
Ensembl chr11:118,893,875...118,925,608
JBrowse link
G CD3D CD3d molecule IAGP ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar Annotator: match by term: SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
ClinVar
OMIM
PMID:10935641, PMID:14602880, PMID:15546002, PMID:21883749, PMID:21926461, PMID:22039266, PMID:23336327, PMID:24290291, PMID:25344390, PMID:27807805, PMID:28492532 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705
Ensembl chr11:118,339,075...118,342,705
JBrowse link
G CD3E CD3e molecule IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
Ensembl chr11:118,304,730...118,316,175
JBrowse link
G CD3G CD3g molecule IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161
JBrowse link
G CENATAC centrosomal AT-AC splicing factor IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,998,117...119,015,793
Ensembl chr11:118,998,138...119,015,793
JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,883,892...118,897,787
Ensembl chr11:118,883,892...118,897,787
JBrowse link
G DDX6 DEAD-box helicase 6 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,747,763...118,791,696
Ensembl chr11:118,747,763...118,791,164
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,096,505...119,101,884
Ensembl chr11:119,096,503...119,108,331
JBrowse link
G FOXR1 forkhead box R1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,971,398...118,981,601
Ensembl chr11:118,971,712...118,981,287
JBrowse link
G H2AX H2A.X variant histone IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,093,874...119,095,465
Ensembl chr11:119,093,854...119,095,467
JBrowse link
G HMBS hydroxymethylbilane synthase IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,084,864...119,093,549
Ensembl chr11:119,084,866...119,093,549
JBrowse link
G HYOU1 hypoxia up-regulated 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,044,187...119,057,205
Ensembl chr11:119,044,188...119,057,227
JBrowse link
G IFT46 intraflagellar transport 46 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,544,536...118,576,456
Ensembl chr11:118,544,528...118,572,970
JBrowse link
G IL10RA interleukin 10 receptor subunit alpha IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,348...118,003,037
Ensembl chr11:117,986,348...118,003,037
JBrowse link
G JAML junction adhesion molecule like IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,193,725...118,225,089
Ensembl chr11:118,193,725...118,225,094
JBrowse link
G KMT2A lysine methyltransferase 2A IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,490...118,526,832
JBrowse link
G MPZL2 myelin protein zero like 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,253,416...118,264,297
Ensembl chr11:118,253,416...118,264,536
JBrowse link
G MPZL3 myelin protein zero like 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,226,690...118,252,365
Ensembl chr11:118,226,690...118,252,365
JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,606,296...118,658,028
Ensembl chr11:118,606,440...118,658,031
JBrowse link
G RPS25 ribosomal protein S25 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,015,717...119,018,343
Ensembl chr11:119,015,712...119,018,691
JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,162,806...118,176,639
Ensembl chr11:118,157,849...118,176,639
Ensembl chr11:118,157,849...118,176,639
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,133,377...118,152,823
Ensembl chr11:118,133,377...118,152,888
JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,024,112...119,030,906
Ensembl chr11:119,024,114...119,030,906
JBrowse link
G TMEM25 transmembrane protein 25 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,531,189...118,547,286
Ensembl chr11:118,531,041...118,547,280
JBrowse link
G TMPRSS4 transmembrane serine protease 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,077,016...118,125,505
Ensembl chr11:118,077,012...118,121,890
JBrowse link
G TRAPPC4 trafficking protein particle complex 4 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,018,766...119,024,134
Ensembl chr11:119,018,763...119,025,454
JBrowse link
G TREH trehalase IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,657,316...118,679,650
Ensembl chr11:118,657,316...118,679,690
JBrowse link
G TTC36 tetratricopeptide repeat domain 36 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,527,474...118,530,993
Ensembl chr11:118,527,472...118,531,197
JBrowse link
G UBE4A ubiquitination factor E4A IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,359,600...118,399,211
Ensembl chr11:118,359,585...118,399,211
Ensembl chr11:118,359,585...118,399,211
JBrowse link
G UPK2 uroplakin 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:118,956,298...118,958,559
Ensembl chr11:118,925,164...118,958,559
JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:119,067,792...119,081,972
Ensembl chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972
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 IAGP ClinVar Annotator: match by term: Immunodeficiency 22 ClinVar
OMIM
PMID:22985903, PMID:25741868, PMID:28492532 NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,239...32,286,165
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 IAGP ClinVar Annotator: match by term: Immunodeficiency 24 ClinVar
OMIM
PMID:24870241, PMID:27638562, PMID:28492532 NCBI chr 1:40,979,696...41,012,565
Ensembl chr 1:40,979,688...41,012,565
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 IAGP ClinVar Annotator: match by term: Immunodeficiency 26 with or without neurologic abnormalities
ClinVar Annotator: match by term: Immunodeficiency 26 without neurologic abnormalities
ClinVar
OMIM
PMID:19075392, PMID:23722905, PMID:25741868, PMID:26122175, PMID:28492532 NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178
Ensembl chr 8:47,773,111...47,960,178
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 IAGP 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 2:97,712,030...97,744,327
Ensembl chr 2:97,713,576...97,739,862
Ensembl chr 2:97,713,576...97,739,862
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 IAGP ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
ClinVar Annotator: match by term: IMMUNODEFICIENCY 9
ClinVar
OMIM
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 chr12:121,626,550...121,642,040
Ensembl chr12:121,626,550...121,642,677
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 IAGP ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities ClinVar
OMIM
PMID:25741868, PMID:28132690, PMID:28148688 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,755,599
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 IEA OMIM:600802 MouseDO NCBI chr19:17,824,782...17,848,071
Ensembl chr19:17,824,780...17,848,071
JBrowse link
MHC class I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMB8-AS1 PSMB8 antisense RNA 1 (head to head) IAGP ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1
ClinVar PMID:28492532 NCBI chr 6:32,844,086...32,846,500
Ensembl chr 6:32,844,078...32,846,500
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IAGP ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1
ClinVar
OMIM
PMID:3891604, PMID:8640228, PMID:10074494, PMID:16299152, PMID:16624613, PMID:25741868, PMID:28492532 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,978
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1
ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE I
ClinVar
OMIM
PMID:1570316, PMID:7517574, PMID:10560675, PMID:11529920, PMID:12067308, PMID:23662797, PMID:24033266, PMID:25741868, PMID:26122175, PMID:28492532 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,770
JBrowse link
G TAPBP TAP binding protein IAGP ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1
ClinVar
OMIM
PMID:12149238, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:33,299,694...33,314,254
Ensembl chr 6:33,299,694...33,314,387
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 IAGP 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)
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2
ClinVar Annotator: match by term: SCID due to absent class II HLA antigens
ClinVar Annotator: match by term: Bare Lymphocyte Syndrome
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
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 chr16:10,866,208...10,941,562
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G NR2C2AP nuclear receptor 2C2 associated protein IAGP ClinVar Annotator: match by term: MHC Class II Deficiency
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2
ClinVar PMID:28492532 NCBI chr19:19,201,409...19,203,414
Ensembl chr19:19,201,416...19,203,424
Ensembl chr19:19,201,416...19,203,424
JBrowse link
G RFX5 regulatory factor X5 IAGP 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 1:151,340,640...151,347,319
Ensembl chr 1:151,340,640...151,347,357
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP 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 chr19:19,192,258...19,201,869
Ensembl chr19:19,192,229...19,201,869
JBrowse link
G RFXAP regulatory factor X associated protein IAGP ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2
ClinVar Annotator: match by term: SCID due to absent class II HLA antigens
ClinVar Annotator: match by term: Severe combined immunodeficiency, HLA class ii-negative
ClinVar Annotator: match by term: Bare Lymphocyte Syndrome
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 chr13:36,819,222...36,829,104
Ensembl chr13:36,819,224...36,829,104
Ensembl chr13:36,819,224...36,829,104
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 IAGP OMIM NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G RAG1 recombination activating 1 IAGP OMIM NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,709...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP OMIM PMID:9630231 RGD:1599403 NCBI chr11:36,591,943...36,598,236
Ensembl chr11:36,575,574...36,598,279
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 IAGP 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 chr11:36,591,943...36,598,236
Ensembl chr11:36,575,574...36,598,279
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 IAGP DNA:missense,nonsense mutations:cds:
ClinVar Annotator: match by term: Reticular dysgenesis
ClinVar
OMIM
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 1:33,007,940...33,036,883
Ensembl chr 1:33,007,940...33,080,996
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 IAGP 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
OMIM
PMID:12604777, PMID:16439204, PMID:16439205, PMID:16571728, PMID:20597108, PMID:25741868, PMID:26122175, PMID:28492532 NCBI chr 2:219,069,357...219,160,815
Ensembl chr 2:219,069,357...219,160,865
Ensembl chr 2:219,069,357...219,160,865
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 IAGP 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 Annotator: match by term: Severe combined immunodeficiency, athabascan-type
ClinVar Annotator: match by term: Severe combined immunodeficiency, partial
ClinVar
OMIM
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 chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G LIG4 DNA ligase 4 IAGP 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 chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G MEIG1 meiosis/spermiogenesis associated 1 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation ClinVar PMID:19912631, PMID:28492532 NCBI chr10:14,954,228...14,988,050
Ensembl chr10:14,959,388...14,988,050
JBrowse link
G SUV39H2 suppressor of variegation 3-9 homolog 2 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:28492532 NCBI chr10:14,878,866...14,904,315
Ensembl chr10:14,878,820...14,904,315
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 IAGP 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 chr20:44,619,522...44,651,699
Ensembl chr20:44,619,522...44,652,233
JBrowse link
G IFTAP intraflagellar transport associated protein IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar NCBI chr11:36,594,246...36,659,272
Ensembl chr11:36,594,493...36,659,290
JBrowse link
G JAK3 Janus kinase 3 IAGP 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 chr19:17,824,782...17,848,071
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit ISS OMIM:601457 MouseDO NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178
Ensembl chr 8:47,773,111...47,960,178
JBrowse link
G RAG1 recombination activating 1 IAGP 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, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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 due to complete RAG1/2 deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative
ClinVar
OMIM
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 chr11:36,510,353...36,579,762
Ensembl chr11:36,510,709...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency, b 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: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
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, B cell-negative
ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
ClinVar
OMIM
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 chr11:36,591,943...36,598,236
Ensembl chr11:36,575,574...36,598,279
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 IAGP 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 chr19:17,824,782...17,848,071
Ensembl chr19:17,824,780...17,848,071
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 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ClinVar NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705
Ensembl chr11:118,339,075...118,342,705
JBrowse link
G CORO1A coronin 1A ISS OMIM:608971 MouseDO NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076
JBrowse link
G IL7R interleukin 7 receptor IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ClinVar
OMIM
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 chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
JBrowse link
G JAK3 Janus kinase 3 ISS OMIM:608971 MouseDO NCBI chr19:17,824,782...17,848,071
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ClinVar
OMIM
PMID:10700239, PMID:11145714, PMID:22689986, PMID:25741868, PMID:26915675, PMID:28492532 NCBI chr 1:198,639,025...198,757,476
Ensembl chr 1:198,638,457...198,757,476
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 IAGP 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
OMIM
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 chr17:28,506,211...28,538,900
Ensembl chr17:28,506,243...28,538,896
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 IAGP ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations ClinVar
OMIM
PMID:22174160, PMID:22294732, PMID:25741868, PMID:28492532 NCBI chr20:44,966,470...45,080,021
Ensembl chr20:44,966,479...45,080,021
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 IAGP 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:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 7565
      primary immunodeficiency disease 2235
        combined immunodeficiency 147
          severe combined immunodeficiency 83
            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 4
            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 9
            immunodeficiency 10 1
            immunodeficiency 11A 2
            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 17774
    disease of anatomical entity 16335
      Immune & Inflammatory Diseases 3420
        immune system disease 2894
          primary immunodeficiency disease 2235
            combined immunodeficiency 147
              severe combined immunodeficiency 83
                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 4
                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 9
                immunodeficiency 10 1
                immunodeficiency 11A 2
                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.