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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:combined immunodeficiency
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Accession:DOID:0111962 term browser browse the term
Definition:A primary immunodeficiency disease that involves multiple components of the immune system. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:25843314 PMID:28492532 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Plaa phospholipase A2, activating protein ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 NCBI chr 5:109,428,600...109,460,373
Ensembl chr 5:109,428,265...109,460,282 		JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency
ClinVar Annotator: match by term: SCID DUE TO ADA DEFICIENCY, EARLY-ONSET
ClinVar Annotator: match by synonym: SCID due to ADA deficiency, delayed onset
ClinVar Annotator: match by OMIM:102700		 OMIM
ClinVar		 PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency ClinVar PMID:15454078 PMID:15863612 PMID:17224476 PMID:18250309 PMID:19074970 More... NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		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:25741868 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand disease_progression ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:308230
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)		 ClinVar
RGD
CTD
OMIM		 PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
combined cellular and humoral immune defects with granulomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iftap intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas ClinVar PMID:8810255 PMID:25739914 PMID:28492532 NCBI chr 3:87,812,068...87,906,517
Ensembl chr 3:87,817,408...87,906,547 		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:2682973 PMID:8810255 PMID:9630231 PMID:10701853 PMID:10891452 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas		 OMIM
ClinVar		 PMID:2618670 PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 More... NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO ClinVar Annotator: match by term: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
ClinVar Annotator: match by term: METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1 DEFICIENCY
ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		 ClinVar
OMIM		 PMID:11004530 PMID:15633187 PMID:16315005 PMID:16552426 PMID:17894836 More... NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372 		JBrowse link
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp5 acid phosphatase 5, tartrate resistant ISO ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation
ClinVar Annotator: match by OMIM:607944		 OMIM
ClinVar		 PMID:2363422 PMID:9536098 PMID:12786759 PMID:13524805 PMID:16470600 More... NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929 		JBrowse link
combined T cell and B cell immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		JBrowse link
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: Congenital combined immunodeficiency ClinVar PMID:25741868 PMID:32499645 NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747 		JBrowse link
G Bcl11b BAF chromatin remodeling complex subunit BCL11B ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25627829 PMID:27959755 NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224 		JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency
ClinVar Annotator: match by term: Combined immunodeficiency		 ClinVar PMID:25741868 PMID:28112205 NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar Annotator: match by term: Congenital combined immunodeficiency		 ClinVar PMID:25741868 PMID:25843314 PMID:28492532 NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592 		JBrowse link
G Cd40lg CD40 ligand ISO DNA:polymorphism: :p.G219R (human) RGD PMID:21543760 RGD:5490593 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO
IMP		 ClinVar Annotator: match by term: Combined immunodeficiency, X-linked OMIM
ClinVar
RGD		 PMID:2169613 PMID:7557965 PMID:7632950 PMID:7668284 PMID:7883965 More... RGD:2316325 NCBI chr  X:66,395,330...66,399,026
Ensembl chr  X:66,392,542...66,399,823 		JBrowse link
G Il2rgem1Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo IMP RGD PMID:20111598 RGD:2316325
G Il2rgem2Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo IMP RGD PMID:20111598 RGD:2316325
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Congenital combined immunodeficiency ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Plaa phospholipase A2, activating protein ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:25741868 NCBI chr 5:109,428,600...109,460,373
Ensembl chr 5:109,428,265...109,460,282 		JBrowse link
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:26642240 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency		 ClinVar PMID:20301777 PMID:25627829 PMID:25741868 PMID:26783323 NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700 		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:25073507 PMID:28492532 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:28492532 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,552,974...181,556,842
Ensembl chr 1:181,552,884...181,556,090 		JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408 		JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar Annotator: match by OMIM:615401		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18836449 PMID:19097825 More... NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534 		JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030 		JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:23806086 PMID:24088041 PMID:25073507 PMID:25736269 PMID:25741868 NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543 		JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063 		JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,472,056...181,475,082
Ensembl chr 1:181,472,056...181,475,079 		JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469 		JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881 		JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401 		JBrowse link
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:25741868 NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408 		JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380 		JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,622,708...181,624,996 JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850 		JBrowse link
G RGD1563217 similar to RIKEN cDNA 4930451I11 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,434,524...181,441,000 JBrowse link
G Rhoh ras homolog family member H ISO ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456 		JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593 		JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743 		JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,496,194...181,509,258
Ensembl chr 1:181,496,192...181,534,472 		JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:25073507 PMID:28492532 NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705 		JBrowse link
DNA ligase IV deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Lig4 syndrome
ClinVar Annotator: match by term: LIG4-Related Disorders
DNA:missense mutation: :p.R278H (mouse)
DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human)
ClinVar Annotator: match by OMIM:606593
DNA:missense mutation: :p.Y288C (mouse)		 OMIM
ClinVar
RGD		 PMID:10395545 PMID:11349135 PMID:11779494 PMID:12471202 PMID:15333585 More... RGD:13204717, RGD:13204707, RGD:8694074 NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040 		JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
DNA:mutation:splicing site:
ClinVar Annotator: match by OMIM:300291
ClinVar Annotator: match by synonym: EDA-ID		 OMIM
ClinVar
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		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: Combined immunodeficiency due to STIM1 deficiency
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 More... NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363 		JBrowse link
immunodeficiency 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amz1 archaelysin family metallopeptidase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 11 ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,886,533...13,924,275
Ensembl chr12:13,891,123...13,909,783 		JBrowse link
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Immunodeficiency 11 ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248 		JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO ClinVar Annotator: match by term: Immunodeficiency 11 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18323416 PMID:23027925 PMID:23129749 More... NCBI chr12:13,620,979...13,758,115
Ensembl chr12:13,621,087...13,758,112 		JBrowse link
G Gna12 G protein subunit alpha 12 ISO ClinVar Annotator: match by term: Immunodeficiency 11 ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,805,580...13,886,255
Ensembl chr12:13,805,698...13,886,255 		JBrowse link
G Iqce IQ motif containing E ISO ClinVar Annotator: match by term: Immunodeficiency 11 ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,943,290...13,982,708
Ensembl chr12:13,943,487...13,982,693 		JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Immunodeficiency 11 ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008 		JBrowse link
G Ttyh3 tweety family member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 11 ClinVar PMID:23374270 PMID:23561803 PMID:26289640 PMID:28492532 NCBI chr12:13,996,831...14,025,457
Ensembl chr12:13,997,045...14,025,459 		JBrowse link
immunodeficiency 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Malt1 MALT1 paracaspase ISO ClinVar Annotator: match by term: Immunodeficiency 12
ClinVar Annotator: match by OMIM:615468		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23727036 PMID:24332264 More... NCBI chr18:58,942,282...58,996,318
Ensembl chr18:58,942,299...58,994,260 		JBrowse link
immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenps centromere protein S ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,563,917...159,573,534 JBrowse link
G Clstn1 calsyntenin 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,031,235...160,094,585
Ensembl chr 5:160,031,308...160,094,583 		JBrowse link
G Cort cortistatin ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,560,591...159,562,032 JBrowse link
G Ctnnbip1 catenin, beta-interacting protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,961,961...160,010,942
Ensembl chr 5:159,961,928...160,010,939 		JBrowse link
G Dffa DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,540,718...159,553,639
Ensembl chr 5:159,540,715...159,553,633 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,928,260...159,941,512
Ensembl chr 5:159,920,439...159,939,685 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180 		JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,399,776...159,536,260
Ensembl chr 5:159,399,776...159,536,272 		JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,582,746...159,598,945
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar Annotator: match by OMIM:615513		 OMIM
ClinVar		 PMID:9536098 PMID:16984281 PMID:17576681 PMID:24136356 PMID:24165795 More... NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930 		JBrowse link
G Rbp7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,889,723...159,894,338
Ensembl chr 5:159,889,723...159,894,339 		JBrowse link
G Ube4b ubiquitination factor E4B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,766,829...159,870,509
Ensembl chr 5:159,766,829...159,870,509 		JBrowse link
immunodeficiency 15A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Immunodeficiency 15a
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15A		 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30337470 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
immunodeficiency 15B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO OMIM NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
immunodeficiency 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 16 ClinVar PMID:28492532 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Immunodeficiency 16 ClinVar PMID:28492532 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23897980 PMID:24033266 PMID:25741868 More... NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599 		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:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247 		JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559 		JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611 		JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar Annotator: match by OMIM:615617		 OMIM
ClinVar		 PMID:1635567 PMID:8490660 PMID:9536098 PMID:10935641 PMID:14602880 More... NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809 		JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022 		JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052 		JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662 		JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522 		JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271 		JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389 		JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491 		JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190 		JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Immunodeficiency 19 ClinVar PMID:1635567 PMID:8490660 PMID:15546002 PMID:17277165 PMID:24216686 More... NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568 		JBrowse link
immunodeficiency 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lck LCK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Immunodeficiency 22 ClinVar
OMIM		 PMID:22985903 PMID:25741868 PMID:28492532 NCBI chr 5:141,888,319...141,916,992
Ensembl chr 5:141,888,326...141,903,794 		JBrowse link
immunodeficiency 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:9536098 PMID:14981714 PMID:17576681 PMID:24033266 PMID:24589341 More... NCBI chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353 		JBrowse link
G Me1 malic enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar Annotator: match by OMIM:615816		 OMIM
ClinVar		 PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chr 8:87,517,931...87,536,034
Ensembl chr 8:87,517,701...87,536,022 		JBrowse link
G Prss35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:87,714,449...87,731,009
Ensembl chr 8:87,714,966...87,731,009 		JBrowse link
G Rwdd2a RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:87,536,153...87,539,301
Ensembl chr 8:87,536,176...87,539,300 		JBrowse link
G Snap91 synaptosome associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:87,738,056...87,852,690
Ensembl chr 8:87,738,824...87,852,367 		JBrowse link
G Tpbg trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:86,793,953...86,797,324
Ensembl chr 8:86,793,749...86,797,741 		JBrowse link
G Ube3d ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:87,245,503...87,413,104
Ensembl chr 8:87,245,589...87,413,057 		JBrowse link
immunodeficiency 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctps1 CTP synthase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 24 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24033266 PMID:24870241 PMID:25741868 More... NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180 		JBrowse link
immunodeficiency 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 26 without neurologic abnormalities
ClinVar Annotator: match by term: Immunodeficiency 26 with or without neurologic abnormalities		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:19075392 PMID:23722905 PMID:25741868 More... NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952 		JBrowse link
immunodeficiency 32B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Immunodeficiency 32b
ClinVar Annotator: match by term: IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Monocyte and dendritic cell deficiency, autosomal recessive		 ClinVar
OMIM
CTD		 PMID:6279813 PMID:9536098 PMID:17576681 PMID:21524210 PMID:25122610 More... NCBI chr19:48,790,483...48,812,363
Ensembl chr19:48,790,588...48,811,829 		JBrowse link
immunodeficiency 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 33
ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated, 2
ClinVar Annotator: match by term: Immunodeficiency without anhidrotic ectodermal dysplasia
ClinVar Annotator: match by term: IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED
ClinVar Annotator: match by OMIM:300636		 OMIM
ClinVar		 PMID:11590134 PMID:12459250 PMID:15229184 PMID:15356572 PMID:15577852 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
immunodeficiency 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 36 OMIM
ClinVar		 PMID:6407320 PMID:7705412 PMID:8574420 PMID:11135494 PMID:12514365 More... NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
immunodeficiency 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: Immunodeficiency 37 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:24033266 PMID:25365219 PMID:28492532 NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523 		JBrowse link
immunodeficiency 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10H5orf58 chromosome 10 open reading frame, human C5orf58 ISO ClinVar Annotator: match by term: Immunodeficiency 40 ClinVar PMID:28492532 NCBI chr10:18,690,958...18,697,224
Ensembl chr10:18,688,847...18,697,220 		JBrowse link
G Dock2 dedicator of cytokinesis 2 ISO ClinVar Annotator: match by term: Immunodeficiency 40 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26083206 PMID:28492532 More... NCBI chr10:18,827,237...19,244,823
Ensembl chr10:18,827,239...19,244,808 		JBrowse link
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by term: Immunodeficiency 40 ClinVar PMID:28492532 NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231 		JBrowse link
G Gabrp gamma-aminobutyric acid type A receptor subunit pi ISO ClinVar Annotator: match by term: Immunodeficiency 40 ClinVar PMID:28492532 NCBI chr10:18,143,031...18,169,595
Ensembl chr10:18,143,038...18,169,516 		JBrowse link
G Insyn2b inhibitory synaptic factor family member 2B ISO ClinVar Annotator: match by term: Immunodeficiency 40 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:18,916,721...19,023,859
Ensembl chr10:19,003,131...19,022,139 		JBrowse link
G Kcnip1 potassium voltage-gated channel interacting protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 40 ClinVar PMID:28492532 NCBI chr10:18,219,519...18,588,833
Ensembl chr10:18,219,519...18,589,045 		JBrowse link
G Kcnmb1 potassium calcium-activated channel subfamily M regulatory beta subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 40 ClinVar PMID:28492532 NCBI chr10:18,557,510...18,614,824
Ensembl chr10:18,557,904...18,565,798 		JBrowse link
G Lcp2 lymphocyte cytosolic protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 40 ClinVar PMID:28492532 NCBI chr10:18,642,600...18,689,562
Ensembl chr10:18,642,658...18,689,559 		JBrowse link
immunodeficiency 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Interleukin 2 receptor, alpha, deficiency of
ClinVar Annotator: match by OMIM:606367		 OMIM
ClinVar		 PMID:17196245 PMID:23261300 PMID:23416241 PMID:24033266 PMID:24116927 More... NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697 		JBrowse link
immunodeficiency 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 46
ClinVar Annotator: match by term: Immunodeficiency 46		 ClinVar
OMIM		 PMID:25741868 PMID:26642240 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
immunodeficiency 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency
ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency		 OMIM
ClinVar		 PMID:8124727 PMID:8202712 PMID:8202713 PMID:9536098 PMID:11123350 More... NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700 		JBrowse link
immunodeficiency 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msn moesin ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 50
ClinVar Annotator: match by term: Immunodeficiency 50		 ClinVar
OMIM		 PMID:24033266 PMID:25741868 PMID:27405666 PMID:28378256 PMID:29556235 NCBI chr  X:60,996,043...61,064,011
Ensembl chr  X:60,995,951...61,065,628 		JBrowse link
immunodeficiency 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Relb RELB proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 53
ClinVar Annotator: match by term: Immunodeficiency 53		 ClinVar
OMIM		 PMID:25741868 PMID:26385063 NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507 		JBrowse link
immunodeficiency 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gins1 GINS complex subunit 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 55
ClinVar Annotator: match by term: Combined immunodeficiency due to GINS1 deficiency		 ClinVar
OMIM		 PMID:25741868 PMID:28414293 PMID:28492532 NCBI chr 3:139,724,513...139,745,930
Ensembl chr 3:139,724,490...139,745,936 		JBrowse link
immunodeficiency 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21r interleukin 21 receptor ISO ClinVar Annotator: match by term: IL21R immunodeficiency
ClinVar Annotator: match by OMIM:615207		 OMIM
ClinVar		 PMID:22235133 PMID:23440042 PMID:24033266 PMID:25398835 PMID:25741868 More... NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522 		JBrowse link
immunodeficiency 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acd ACD, shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency ClinVar PMID:25741868 NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461 		JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 58
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency		 ClinVar
OMIM		 PMID:25741868 PMID:27647349 PMID:27896283 PMID:28112205 PMID:28492532 More... NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965 		JBrowse link
immunodeficiency 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality OMIM
ClinVar		 PMID:25741868 PMID:27913302 PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
immunodeficiency 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bach2 BTB domain and CNC homolog 2 ISO ClinVar Annotator: match by term: Immunodeficiency 60
ClinVar Annotator: match by term: IMMUNODEFICIENCY 60		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530713 NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877 		JBrowse link
immunodeficiency 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rasgrp1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 64
ClinVar Annotator: match by term: IMMUNODEFICIENCY 64		 OMIM
ClinVar		 PMID:25741868 PMID:27776107 PMID:28492532 PMID:28822832 PMID:29155103 More... NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056 		JBrowse link
immunodeficiency 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ivns1abp influenza virus NS1A binding protein ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 70 ClinVar
OMIM		 PMID:32499645 NCBI chr13:63,427,040...63,446,701
Ensembl chr13:63,427,041...63,446,701 		JBrowse link
immunodeficiency 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE
ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
ClinVar Annotator: match by term: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA		 ClinVar
OMIM		 PMID:25741868 PMID:28368018 PMID:29127144 PMID:30254128 PMID:32499645 More... NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747 		JBrowse link
immunodeficiency 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nckap1l NCK associated protein 1 like ISO ClinVar Annotator: match by term: Immunodeficiency 72 with autoinflammation OMIM
ClinVar		 PMID:25741868 PMID:32646852 PMID:32647003 NCBI chr 7:134,577,443...134,622,934
Ensembl chr 7:134,577,482...134,622,934 		JBrowse link
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Neutrophil immunodeficiency syndrome OMIM
ClinVar		 PMID:10758162 PMID:10961859 PMID:11278678 PMID:14676277 PMID:21167572 More... NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720 		JBrowse link
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
ClinVar Annotator: match by term: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30654050 PMID:30723080 PMID:31071452 NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720 		JBrowse link
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia OMIM
ClinVar		 PMID:25512081 PMID:25741868 PMID:28492532 NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720 		JBrowse link
immunodeficiency 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orai1 ORAI calcium release-activated calcium modulator 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency
ClinVar Annotator: match by term: IMMUNODEFICIENCY 9
ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
ClinVar Annotator: match by OMIM:612782		 OMIM
ClinVar		 PMID:7531512 PMID:7798233 PMID:8814256 PMID:16582901 PMID:18187424 More... NCBI chr12:33,533,151...33,548,361
Ensembl chr12:33,534,344...33,548,405 		JBrowse link
immunodeficiency with hyper IgM type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3		 ClinVar
OMIM		 PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 More... NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		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 PMID:28492532 NCBI chr15:39,294,033...39,384,086
Ensembl chr15:39,293,605...39,338,898 		JBrowse link
janus kinase-3 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jak3 Janus kinase 3 ISS OMIM:600802 MouseDO NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
leukocyte adhesion deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukocyte adhesion deficiency
DNA:deletion, nonsense mutations:exons:1622_1657del, 2200G>T (human)
DNA:mutations:multiple
DNA:mutation:exon:p.R188X(human)
DNA:mutations:cds:p.D231H, G284S (human)		 CTD
ClinVar
RGD		 PMID:9653089 PMID:1968911 PMID:14512306 PMID:20549317 PMID:21103413 More... RGD:1600220, RGD:6482225, RGD:6482224, RGD:6482223, RGD:6482222 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
leukocyte adhesion deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt3 FERM domain containing kindlin 3 ISO DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) RGD PMID:19064721 RGD:11352306 NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587 		JBrowse link
G Itgb2 integrin subunit beta 2 susceptibility ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1
DNA:polymorphisms:multiple (human)
ClinVar Annotator: match by term: Leukocyte adhesion deficiency type 1
ClinVar Annotator: match by OMIM:116920		 OMIM
ClinVar
RGD		 PMID:1346613 PMID:1347532 PMID:1590804 PMID:1694220 PMID:1968911 More... RGD:6482224 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
leukocyte adhesion deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt3 FERM domain containing kindlin 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency, type III
DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human)
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612840		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:12511588 PMID:16199547 PMID:17576681 PMID:18779414 More... RGD:11352305 NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587 		JBrowse link
G Rasgrp2 RAS guanyl releasing protein 2 ISS OMIM:612840 MouseDO NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993 		JBrowse link
MHC class I deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1
ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY
ClinVar Annotator: match by OMIM:604571		 OMIM
ClinVar		 PMID:1570316 PMID:3891604 PMID:8640228 PMID:9536098 PMID:10074494 More... NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1
ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY
ClinVar Annotator: match by OMIM:604571		 OMIM
ClinVar		 PMID:1570316 PMID:7517574 PMID:9536098 PMID:10560675 PMID:11529920 More... NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
G Tapbp TAP binding protein ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1
ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY
ClinVar Annotator: match by OMIM:604571		 OMIM
ClinVar		 PMID:12149238 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181 		JBrowse link
MHC class II deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ciita class II, major histocompatibility complex, transactivator severity ISO DNA:nonsense mutation:CDS:c.1256G>T, p.E381X (allele 1); DNA:splice-site mutation/deletion:CDS:p.D1078E/c.3349_3432del, p.1079_1106del (allele 2) (human)
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 2, complementation group A
ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II
DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells (human)		 ClinVar
OMIM
RGD		 PMID:8402893 PMID:9099848 PMID:9536098 PMID:11704716 PMID:11862382 More... RGD:1600188, RGD:5491200 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440 		JBrowse link
G Nr2c2ap nuclear receptor 2C2-associated protein ISO ClinVar Annotator: match by term: MHC Class II Deficiency
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2		 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,288,454...19,290,719 		JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 2, complementation group E
ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c		 ClinVar
OMIM		 PMID:7744245 PMID:9401005 PMID:9536098 PMID:10079298 PMID:12368908 More... NCBI chr 2:182,521,131...182,528,720
Ensembl chr 2:182,521,202...182,528,717 		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 Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group b		 ClinVar
OMIM		 PMID:7951244 PMID:9536098 PMID:9806546 PMID:10803838 PMID:11313409 More... NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255 		JBrowse link
G Rfxap regulatory factor X-associated protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, HLA class ii-negative
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2
ClinVar Annotator: match by term: Bare Lymphocyte Syndrome, Type II, Complementation Group D		 ClinVar
OMIM		 PMID:650344 PMID:7021490 PMID:9118943 PMID:9287230 PMID:12498778 More... NCBI chr 2:139,008,052...139,012,235
Ensembl chr 2:139,008,055...139,012,259 		JBrowse link
Omenn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1c DNA cross-link repair 1C ISO OMIM NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186 		JBrowse link
G Rag1 recombination activating 1 ISO OMIM NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
G Rag2 recombination activating 2 ISO OMIM
RGD		 PMID:9630231 RGD:1599403 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
purine nucleoside phosphorylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnp purine nucleoside phosphorylase ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613179		 OMIM
ClinVar
CTD		 PMID:1384322 PMID:1560016 PMID:3029074 PMID:8931706 PMID:9067751 More... NCBI chr15:24,170,456...24,178,274
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
recombinase activating gene 2 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: RAG2 deficiency
ClinVar Annotator: match by term: Recombinase activating gene 2 deficiency		 ClinVar PMID:25741868 PMID:28492532 PMID:29772310 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		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
RGD		 PMID:9536098 PMID:17576681 PMID:19043416 PMID:19043417 PMID:19414857 More... RGD:11100026 NCBI chr 5:141,308,650...141,364,633
Ensembl chr 5:141,346,063...141,364,632 		JBrowse link
severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar Annotator: match by term: Severe Combined Immunodeficiency		 ClinVar
RGD		 PMID:498598 PMID:980079 PMID:1284479 PMID:2166947 PMID:2651461 More... RGD:1300353 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Ak2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar Annotator: match by term: Severe Combined Immune Deficiency		 CTD
ClinVar		 PMID:19043416 PMID:19043417 PMID:28331055 NCBI chr 5:141,308,650...141,364,633
Ensembl chr 5:141,346,063...141,364,632 		JBrowse link
G C1H9orf66 chromosome 1 open reading frame, human C9orf66 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe Combined Immunodeficiency		 ClinVar
CTD
RGD		 PMID:9536098 PMID:15546002 PMID:17576681 PMID:28492532 PMID:14602880 RGD:1549420 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809 		JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:15546002 PMID:28492532 NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022 		JBrowse link
G Dclre1c DNA cross-link repair 1C susceptibility ISO DNA:deletion:exon
ClinVar Annotator: match by term: Severe combined immunodeficiency disease		 ClinVar
RGD		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:11336668 RGD:1601049 NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
G Epo erythropoietin ISO Protein: decreased expression:skin RGD PMID:19826948 RGD:2313831 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:2342538 RGD:1600060 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO X-linked SCID, OMIM:300400 RGD PMID:7557965 RGD:1600009 NCBI chr  X:66,395,330...66,399,026
Ensembl chr  X:66,392,542...66,399,823 		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 Immune Deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar Annotator: match by term: Severe Combined Immunodeficiency		 ClinVar
RGD		 PMID:15661025 PMID:16492442 PMID:17827065 PMID:18255337 PMID:18403192 More... RGD:1600151 NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757 		JBrowse link
G Jak3 Janus kinase 3 treatment ISO ClinVar Annotator: match by term: Severe Combined Immunodeficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar Annotator: match by term: Severe Combined Immune Deficiency
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 More... RGD:11531109 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Severe Combined Immune Deficiency ClinVar NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:23402911 PMID:25633902 PMID:25741868 PMID:27707659 PMID:28492532 More... NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		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 More... NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar NCBI chr 8:87,517,931...87,536,034
Ensembl chr 8:87,517,701...87,536,022 		JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO
IMP		 RGD PMID:9122213 PMID:22981234 RGD:1599202, RGD:8696027 NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952 		JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO DNA:deletion RGD PMID:11145714 RGD:1599983 NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency disease ClinVar PMID:25741868 PMID:28492532 PMID:30723080 NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720 		JBrowse link
G Rag1 recombination activating 1 ISO
IMP		 ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar Annotator: match by term: Severe Combined Immunodeficiency
Omenn syndrome, OMIM:179615		 ClinVar
RGD		 PMID:8810255 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 More... RGD:1599402, RGD:7204134, RGD:7204131, RGD:1599403 NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
G Rag1em1Ang recombination activating gene 1; zinc finger nuclease induced mutant 1, Ignacio Anegon IMP RGD PMID:23150522 RGD:7204134
G Rag1em1Ztm recombination activating gene 1; zinc finger nuclease induced mutant 1, Zentrales Tierlaboratorium, Medizinische Hochschule Hannover IMP RGD PMID:23136839 RGD:7204131
G Rag2 recombination activating 2 ISO
IMP		 ClinVar Annotator: match by term: Severe Combined Immune Deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar Annotator: match by term: Severe Combined Immunodeficiency		 ClinVar
RGD		 PMID:15025726 PMID:18463379 PMID:20603253 PMID:21131235 PMID:21664875 More... RGD:1599402, RGD:38508903 NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
G Rfx5 regulatory factor X5 ISO RGD PMID:7744245 PMID:9401005 RGD:1599743, RGD:1599742 NCBI chr 2:182,521,131...182,528,720
Ensembl chr 2:182,521,202...182,528,717 		JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO RGD PMID:12618906 RGD:1599746 NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255 		JBrowse link
G Tapbp TAP binding protein ISO type I bare lymphocyte syndrome, OMIM:604571 RGD PMID:12149238 RGD:1599296 NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181 		JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26642240 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Severe Combined Immune Deficiency ClinVar NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892 		JBrowse link
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO selective T-cell defect, OMIM:176947
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe Combined Immunodeficiency		 CTD
ClinVar
RGD		 PMID:8202713 PMID:8124727 RGD:1599880 NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700 		JBrowse link
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency
ClinVar Annotator: match by OMIM:611291		 OMIM
ClinVar		 PMID:9536098 PMID:12604777 PMID:16199547 PMID:16439204 PMID:16439205 More... NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
severe combined immunodeficiency with sensitivity to ionizing radiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency, athabascan-type
ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation
ClinVar Annotator: match by term: Severe combined immunodeficiency, partial
ClinVar Annotator: match by OMIM:602450
ClinVar Annotator: match by synonym: Severe combined immunodeficiency, partial		 OMIM
ClinVar		 PMID:9536098 PMID:11336668 PMID:12055248 PMID:12569164 PMID:12592555 More... NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186 		JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency		 ClinVar PMID:12471202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040 		JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation ClinVar PMID:19912631 PMID:28492532 NCBI chr17:74,810,791...74,828,433
Ensembl chr17:74,814,632...74,828,433 		JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332 		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 More... NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation OMIA PMID:17998435 PMID:22903400 PMID:23514746 PMID:25454085 PMID:26320255 NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186 		JBrowse link
G Iftap intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar NCBI chr 3:87,812,068...87,906,517
Ensembl chr 3:87,817,408...87,906,547 		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:9354668 PMID:9536098 PMID:10900158 More... NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISS OMIM:601457 MouseDO NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952 		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 combined immunodeficiency due to complete RAG1/2 deficiency
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, b cell-negative		 OMIM
ClinVar		 PMID:290284 PMID:8810255 PMID:9630231 PMID:10891452 PMID:11133745 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative
ClinVar Annotator: match by term: Severe combined immunodeficiency, b cell-negative
ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive		 OMIM
ClinVar		 PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11313270 More... NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		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
RGD		 PMID:25741868 PMID:28492532 PMID:7659163 RGD:1600254 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		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 PMID:28492532 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809 		JBrowse link
G Coro1a coronin 1A ISS OMIM:608971 MouseDO NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534 		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:9536098 PMID:9843216 PMID:11023514 PMID:15661025 PMID:16199547 More... NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757 		JBrowse link
G Jak3 Janus kinase 3 ISS OMIM:608971 MouseDO NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		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:9536098 PMID:10700239 PMID:11145714 PMID:16199547 PMID:17576681 More... NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692 		JBrowse link
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxn1 forkhead box N1 ISO ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia and nail dystrophy
ClinVar Annotator: match by OMIM:601705		 OMIM
ClinVar		 PMID:8911612 PMID:10206641 PMID:15180707 PMID:15897400 PMID:16199547 More... NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710 		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:9536098 PMID:17576681 PMID:22174160 PMID:22294732 PMID:25741868 More... NCBI chr 3:152,745,958...152,827,747
Ensembl chr 3:152,745,681...152,827,744 		JBrowse link
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia ClinVar PMID:28492532 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia ClinVar PMID:28492532 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
ClinVar Annotator: match by OMIM:300853		 OMIM
ClinVar		 PMID:16199547 PMID:21796205 PMID:24550228 PMID:25135935 PMID:25504528 More... NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699 		JBrowse link
X-linked severe combined immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il2rg interleukin 2 receptor subunit gamma ISO
IMP		 ClinVar Annotator: match by term: X-linked severe combined immunodeficiency ClinVar
OMIM
RGD		 PMID:2169613 PMID:2984567 PMID:7557965 PMID:7632950 PMID:7668284 More... RGD:2316325 NCBI chr  X:66,395,330...66,399,026
Ensembl chr  X:66,392,542...66,399,823 		JBrowse link
G Il2rgem1Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo IMP RGD PMID:20111598 RGD:2316325
G Il2rgem2Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo IMP RGD PMID:20111598 RGD:2316325
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    syndrome 8267
      primary immunodeficiency disease 2733
        combined immunodeficiency 187
          B cell and dendritic cell deficiency + 1
          Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia 1
          Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 1
          T cell, B cell, and NK cell deficiency + 1
          combined T cell and B cell immunodeficiency + 66
          combined cellular and humoral immune defects with granulomas 3
          immunodeficiency 12 1
          immunodeficiency 33 2
          immunodeficiency 41 1
          immunodeficiency 50 1
          immunodeficiency 55 1
          immunodeficiency 71 1
          immunodeficiency 72 1
          immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis 1
          immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 1
          immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 1
          monocyte, dendritic cell, and NK cell deficiency + 1
          severe combined immunodeficiency + 124
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      Immune & Inflammatory Diseases 4056
        immune system disease 3410
          primary immunodeficiency disease 2733
            combined immunodeficiency 187
              B cell and dendritic cell deficiency + 1
              Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia 1
              Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia 1
              T cell, B cell, and NK cell deficiency + 1
              combined T cell and B cell immunodeficiency + 66
              combined cellular and humoral immune defects with granulomas 3
              immunodeficiency 12 1
              immunodeficiency 33 2
              immunodeficiency 41 1
              immunodeficiency 50 1
              immunodeficiency 55 1
              immunodeficiency 71 1
              immunodeficiency 72 1
              immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis 1
              immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 1
              immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 1
              monocyte, dendritic cell, and NK cell deficiency + 1
              severe combined immunodeficiency + 124
paths to the root