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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
RGD
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 RGD:1300353 NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
JBrowse link
G AK2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043416, PMID:19043417 NCBI chr 1:32,295,668...32,323,681
Ensembl chr 1:33,480,947...33,508,621
JBrowse link
G CD3D CD3d molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
CTD
ClinVar
RGD
PMID:14602880, PMID:15546002, PMID:28492532 RGD:1549420 NCBI chr11:113,174,007...113,179,244
Ensembl chr11:117,105,868...117,111,051
JBrowse link
G CD3E CD3e molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
CTD
ClinVar
PMID:15546002, PMID:28492532 NCBI chr11:113,142,200...113,153,928
Ensembl chr11:117,074,041...117,085,625
JBrowse link
G DCLRE1C DNA cross-link repair 1C susceptibility ISO DNA:deletion:exon
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
RGD
ClinVar
PMID:11336668, PMID:24033266, PMID:25741868 RGD:1601049 NCBI chr10:14,901,335...14,956,947
Ensembl chr10:15,236,558...15,269,043
JBrowse link
G EPO erythropoietin ISO Protein: decreased expression:skin RGD PMID:19826948 RGD:2313831 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G IL2 interleukin 2 ISO mRNA:decreased_expression::no detectable IL2 mRNA RGD PMID:2342538 RGD:1600060 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma ISO X-linked SCID, OMIM:300400 RGD PMID:7557965 RGD:1600009 NCBI chr  X:60,375,815...60,386,936 JBrowse link
G IL7R interleukin 7 receptor ISO 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
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
RGD
ClinVar
PMID:9843216, PMID:15661025, PMID:16492442, PMID:17827065, PMID:18255337, PMID:18403192, PMID:18641513, PMID:24759676, PMID:25741868, PMID:27833609, PMID:28492532 RGD:1600151 NCBI chr 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612
JBrowse link
G JAK3 Janus kinase 3 treatment ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD
ClinVar
RGD
PMID:9354668, PMID:9427607, 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 RGD:11531109 NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
JBrowse link
G LOC100971372 tyrosine-protein kinase ZAP-70 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
selective T-cell defect, OMIM:176947
CTD
ClinVar
RGD
PMID:8124727, PMID:8202713 RGD:1599880 NCBI chr2A:101,582,567...101,613,175
Ensembl chr2A:98,613,740...98,639,088
JBrowse link
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:7581410, PMID:10521296, PMID:11186938, PMID:11447480, PMID:15358028, PMID:16858239, PMID:17125710, PMID:18029407, PMID:19880069, PMID:20031618, PMID:22857948, PMID:23233322, PMID:23283745, PMID:24033266, PMID:24093860, PMID:24111713, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26743238, PMID:26969327, PMID:27247418, PMID:27532257, PMID:27737317, PMID:27831900, PMID:28138913, PMID:28420666, PMID:28492532, PMID:28615295, PMID:28790153 NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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 1:147,128,541...147,146,227
Ensembl chr 1:150,841,630...150,858,628
JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO RGD PMID:9122213, PMID:22981234 RGD:1599202, RGD:8696027 NCBI chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299
JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C ISO DNA:deletion RGD PMID:11145714 RGD:1599983 NCBI chr 1:174,246,389...174,364,893
Ensembl chr 1:178,556,104...178,672,994
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 chr22:18,138,517...18,159,023
Ensembl chr22:35,973,229...35,992,026
JBrowse link
G RAG1 recombination activating 1 ISO missense mutations in both genes Omenn syndrome, OMIM:179615 , OMIM:179616
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
RGD
ClinVar
PMID:8810255, PMID:9630231, PMID:11133745, PMID:11213808, PMID:11520796, PMID:11908269, PMID:11971977, PMID:17075247, PMID:17572155, PMID:18463379, PMID:18768869, PMID:20956421, PMID:21664875, PMID:23136839, PMID:24144642, PMID:24290284, PMID:24406074, PMID:25516070, PMID:25741868, PMID:25869295, PMID:26186701, PMID:26476733, PMID:26596586, PMID:27484032, PMID:28492532, PMID:30290665 RGD:1599402, RGD:1599403, RGD:7204131 NCBI chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904
JBrowse link
G RAG2 recombination activating 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
RGD
ClinVar
PMID:8810255, 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:30206106, PMID:30307608 RGD:1599402, RGD:38508903 NCBI chr11:36,558,419...36,564,997
Ensembl chr11:36,431,703...36,433,286
JBrowse link
G RFX5 regulatory factor X5 ISO RGD PMID:7744245, PMID:9401005 RGD:1599742, RGD:1599743 NCBI chr 1:126,699,772...126,706,486
Ensembl chr 1:130,345,977...130,352,317
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein ISO RGD PMID:12618906 RGD:1599746 NCBI chr19:18,630,221...18,639,840
Ensembl chr19:19,631,847...19,640,619
JBrowse link
G TAPBP TAP binding protein ISO type I bare lymphocyte syndrome, OMIM:604571 RGD PMID:12149238 RGD:1599296 NCBI chr 6:32,871,768...32,886,679
Ensembl chr 6:33,986,058...34,000,190
JBrowse link
G TFRC transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26642240 NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998
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 OMIM NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
JBrowse link
G LOC100978529 myosin-7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410, PMID:10521296, PMID:11186938, PMID:11447480, PMID:15358028, PMID:16858239, PMID:17125710, PMID:18029407, PMID:19880069, PMID:20031618, PMID:22857948, PMID:23233322, PMID:23283745, PMID:24033266, PMID:24093860, PMID:24111713, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26743238, PMID:26969327, PMID:27247418, PMID:27532257, PMID:27737317, PMID:27831900, PMID:28138913, PMID:28420666, PMID:28492532, PMID:28615295, PMID:28790153 NCBI chr14:4,231,344...4,254,295
Ensembl chr14:22,325,812...22,348,763
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 chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904
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 chr11:36,560,918...36,623,870
Ensembl chr11:36,433,630...36,496,483
JBrowse link
G RAG1 recombination activating 1 ISO OMIM NCBI chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904
JBrowse link
G RAG2 recombination activating 2 ISO OMIM NCBI chr11:36,558,419...36,564,997
Ensembl chr11:36,431,703...36,433,286
JBrowse link
coronin-1A deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOA aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532
G CORO1A coronin 1A ISO OMIM Ensembl chr16:30,550,383...30,556,196 JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 Ensembl chr16:30,479,684...30,488,868 JBrowse link
G LOC100995352 keratin-associated protein 10-2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 Ensembl chr16:30,450,467...30,464,446 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 4:34,517,487...34,569,934
Ensembl chr 4:40,419,549...40,420,124
JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 Ensembl chr16:30,460,305...30,467,070 JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449, PMID:28492532 Ensembl chr16:30,467,490...30,471,256 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 OMIM NCBI chr11:3,726,501...3,954,951
Ensembl chr11:3,840,513...4,065,224
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 OMIM NCBI chr 7:3,166,788...3,304,729
Ensembl chr 7:3,258,736...3,332,999
JBrowse link
immunodeficiency 15B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta ISO OMIM NCBI chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971
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 chr11:113,411,166...113,441,792
Ensembl chr11:117,341,427...117,371,589
JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,236,010...113,243,661
Ensembl chr11:117,167,404...117,200,030
JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,735,852...113,765,811
Ensembl chr11:117,666,995...117,678,598
JBrowse link
G CD3D CD3d molecule ISO OMIM NCBI chr11:113,174,007...113,179,244
Ensembl chr11:117,105,868...117,111,051
JBrowse link
G CD3E CD3e molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,142,200...113,153,928
Ensembl chr11:117,074,041...117,085,625
JBrowse link
G CD3G CD3g molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,179,270...113,190,104
Ensembl chr11:117,111,132...117,120,566
JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,836,400...113,853,928
Ensembl chr11:117,766,526...117,784,125
JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,722,084...113,735,987
Ensembl chr11:117,652,368...117,664,852
JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,587,220...113,630,995
Ensembl chr11:117,515,778...117,559,364
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,934,705...113,940,535
Ensembl chr11:117,863,866...117,870,204
JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,809,875...113,819,093
Ensembl chr11:117,740,678...117,750,262
JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757
JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,882,418...113,895,438
Ensembl chr11:117,812,975...117,824,005
JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,382,150...113,404,866
Ensembl chr11:117,312,894...117,335,319
JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:112,820,445...112,835,603
Ensembl chr11:116,752,619...116,767,771
JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,027,829...113,062,344
Ensembl chr11:116,960,436...116,994,373
JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,273,198...113,364,404 JBrowse link
G LOC100994157 histone H2AX ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,932,078...113,933,679 JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,063,961...113,102,097
Ensembl chr11:117,023,102...117,034,209
JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,063,957...113,089,929
Ensembl chr11:116,996,090...117,022,051
JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,446,275...113,496,941
Ensembl chr11:117,376,205...117,426,391
JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,853,891...113,856,636
Ensembl chr11:117,784,075...117,787,104
JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:112,996,609...113,010,412
Ensembl chr11:116,928,676...116,942,500
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:112,967,190...112,986,727
Ensembl chr11:116,899,268...116,918,892
JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,862,537...113,869,447
Ensembl chr11:117,792,700...117,799,269
JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,368,595...113,384,290
Ensembl chr11:117,299,183...117,314,494
JBrowse link
G TMPRSS4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:112,910,223...112,953,677
Ensembl chr11:116,843,287...116,884,767
JBrowse link
G TRAPPC4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,856,661...113,861,855 JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,496,561...113,519,230
Ensembl chr11:117,426,597...117,448,445
JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,364,559...113,368,586
Ensembl chr11:117,295,191...117,298,928
JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,193,986...113,233,660
Ensembl chr11:117,131,100...117,162,385
JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,768,506...113,796,564
Ensembl chr11:117,724,038...117,726,313
JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:28492532 NCBI chr11:113,905,989...113,920,163
Ensembl chr11:117,835,557...117,849,389
JBrowse link
immunodeficiency 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LCK LCK proto-oncogene, Src family tyrosine kinase ISO OMIM NCBI chr 1:31,560,229...31,572,391
Ensembl chr 1:32,565,739...32,579,923
JBrowse link
immunodeficiency 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTPS1 CTP synthase 1 ISO OMIM NCBI chr 1:40,275,581...40,308,421
Ensembl chr 1:41,592,509...41,624,455
JBrowse link
immunodeficiency 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO OMIM NCBI chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299
JBrowse link
immunodeficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100971372 tyrosine-protein kinase ZAP-70 ISO OMIM NCBI chr2A:101,582,567...101,613,175
Ensembl chr2A:98,613,740...98,639,088
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 OMIM NCBI chr12:119,229,069...119,243,435 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 OMIM NCBI chr 8:27,983,700...28,035,879
Ensembl chr 8:25,174,414...25,233,599
JBrowse link
MHC class I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO OMIM NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO OMIM NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750
JBrowse link
G TAPBP TAP binding protein ISO OMIM NCBI chr 6:32,871,768...32,886,679
Ensembl chr 6:33,986,058...34,000,190
JBrowse link
MHC class II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIITA class II major histocompatibility complex transactivator severity ISO DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells OMIM
RGD
PMID:11466404 RGD:5491200 NCBI chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485
JBrowse link
G NR2C2AP nuclear receptor 2C2 associated protein ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome 2
ClinVar Annotator: match by term: MHC Class II Deficiency
ClinVar PMID:28492532 NCBI chr19:18,639,380...18,641,725
Ensembl chr19:19,640,163...19,642,179
JBrowse link
G RFX5 regulatory factor X5 ISO OMIM NCBI chr 1:126,699,772...126,706,486
Ensembl chr 1:130,345,977...130,352,317
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein ISO OMIM NCBI chr19:18,630,221...18,639,840
Ensembl chr19:19,631,847...19,640,619
JBrowse link
G RFXAP regulatory factor X associated protein ISO OMIM NCBI chr13:18,029,873...18,039,752
Ensembl chr13:36,461,048...36,470,935
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 chr10:14,901,335...14,956,947
Ensembl chr10:15,236,558...15,269,043
JBrowse link
G RAG1 recombination activating 1 ISO OMIM NCBI chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904
JBrowse link
G RAG2 recombination activating 2 ISO OMIM NCBI chr11:36,558,419...36,564,997
Ensembl chr11:36,431,703...36,433,286
JBrowse link
recombinase activating gene 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAG2 recombination activating 2 ISO ClinVar Annotator: match by term: RAG2 deficiency
ClinVar Annotator: match by term: Recombinase activating gene 2 deficiency
ClinVar PMID:25741868, PMID:28492532, PMID:29772310 NCBI chr11:36,558,419...36,564,997
Ensembl chr11:36,431,703...36,433,286
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 OMIM NCBI chr 1:32,295,668...32,323,681
Ensembl chr 1:33,480,947...33,508,621
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 OMIM NCBI chr2B:106,326,596...106,419,928
Ensembl chr2B:224,926,183...225,008,788
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 OMIM NCBI chr10:14,901,335...14,956,947
Ensembl chr10:15,236,558...15,269,043
JBrowse link
G LIG4 DNA ligase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency
ClinVar PMID:12471202, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr13:89,336,434...89,347,418
Ensembl chr13:108,475,820...108,478,555
JBrowse link
G MEIG1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation ClinVar PMID:19912631, PMID:28492532 NCBI chr10:14,957,096...14,975,737 JBrowse link
G SUV39H2 suppressor of variegation 3-9 homolog 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:28492532 NCBI chr10:14,882,491...14,907,724
Ensembl chr10:15,211,360...15,237,097
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 chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
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 chr11:36,560,918...36,623,870
Ensembl chr11:36,433,630...36,496,483
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 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 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 chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
JBrowse link
G RAG1 recombination activating 1 ISO OMIM NCBI chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904
JBrowse link
G RAG2 recombination activating 2 ISO OMIM NCBI chr11:36,558,419...36,564,997
Ensembl chr11:36,431,703...36,433,286
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 OMIM NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
JBrowse link
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD3D CD3d molecule ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ClinVar NCBI chr11:113,174,007...113,179,244
Ensembl chr11:117,105,868...117,111,051
JBrowse link
G IL7R interleukin 7 receptor ISO OMIM NCBI chr 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612
JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C ISO OMIM NCBI chr 1:174,246,389...174,364,893
Ensembl chr 1:178,556,104...178,672,994
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 OMIM NCBI chr17:28,237,150...28,272,010
Ensembl chr17:28,740,775...28,773,592
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 OMIM NCBI chr20:41,297,157...41,410,487
Ensembl chr20:42,389,615...42,503,014
JBrowse link
X-linked severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL2RG interleukin 2 receptor subunit gamma ISO OMIM NCBI chr  X:60,375,815...60,386,936 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12748
    syndrome 6164
      primary immunodeficiency disease 1936
        combined immunodeficiency 137
          severe combined immunodeficiency 81
            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 9
            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 0
            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 5
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 3
Path 2
Term Annotations click to browse term
  disease 12748
    disease of anatomical entity 12278
      Immune & Inflammatory Diseases 2897
        immune system disease 2465
          primary immunodeficiency disease 1936
            combined immunodeficiency 137
              severe combined immunodeficiency 81
                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 9
                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 0
                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 5
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 3
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.