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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 T cell and B cell immunodeficiency
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Accession:DOID:628 term browser browse the term
Definition:A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. (DO)
Synonyms:exact_synonym: CIDX;   COMBINED T AND B CELL IMMUNODEFICIENCY;   IMD6;   X Linked Immunodeficiency Disease;   X-Linked Combined Immunodeficiencies;   X-Linked Combined Immunodeficiency Diseases;   X-Linked Immunodeficiency Diseases;   X-linked combined immunodeficiency;   X-linked immunodeficiency syndrome;   X-linked immunodeficiency syndromes;   XCID;   congenital combined immunodeficiency;   immunodeficiency 6
 narrow_synonym: Combined immunodeficiency, X-linked, moderate
 primary_id: MESH:D053632
 alt_id: OMIA:000899;   OMIM:312863
 xref: ICD10CM:D81;   ICD9CM:279.2;   NCI:C27871;   ORDO:101972
For additional species annotation, visit the Alliance of Genome Resources.



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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 T and B cell 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 T and B cell 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: Congenital combined immunodeficiency ClinVar PMID:25741868 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:7557965 PMID:7632950 PMID:7668284 PMID:7883965 PMID:9049783 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: Combined T and B cell 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
CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449
JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983
JBrowse link
G Cd40lg CD40 ligand disease_progression ISO ClinVar Annotator: match by term: Hyper IgM immunodeficiency, X-linked | ClinVar Annotator: match by term: IMMUNODEFICIENCY 3 | ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
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
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958
JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607
JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841
JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,430,588...134,486,747
Ensembl chr  X:134,420,756...134,485,375
JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
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: DNA ligase IV deficiency | 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)
DNA:missense mutation: :p.Y288C (mouse)
OMIM
ClinVar
RGD
PMID:10395545 PMID:11349135 PMID:11779494 PMID:12471202 PMID:16088910 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 Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
DNA:mutation:splicing site:
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 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtrap angiotensin II receptor-associated protein ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036
JBrowse link
G Angptl7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,932,094...158,937,597
Ensembl chr 5:158,932,794...158,937,324
JBrowse link
G Car6 carbonic anhydrase 6 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,658,104...160,676,644
Ensembl chr 5:160,658,105...160,676,644
JBrowse link
G Casz1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400
JBrowse link
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 Clcn6 chloride voltage-gated channel 6 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
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 Disp3 dispatched RND transporter family member 3 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,672,015...158,720,806
Ensembl chr 5:158,672,015...158,720,806
JBrowse link
G Draxin dorsal inhibitory axon guidance protein ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,530,149...158,563,457
Ensembl chr 5:158,530,342...158,564,483
JBrowse link
G Eno1 enolase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
JBrowse link
G Exosc10 exosome component 10 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,995,318...159,018,946
Ensembl chr 5:158,995,313...159,018,940
JBrowse link
G Fbxo2 F-box protein 2 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,592,926...158,598,355
Ensembl chr 5:158,592,925...158,598,355
JBrowse link
G Fbxo44 F-box protein 44 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,583,363...158,592,510
Ensembl chr 5:158,583,366...158,592,363
JBrowse link
G Fbxo6 F-box protein 6 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,576,729...158,582,520
Ensembl chr 5:158,576,759...158,582,525
JBrowse link
G Gpr157 G protein-coupled receptor 157 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,550,703...160,566,432
Ensembl chr 5:160,550,713...160,566,432
JBrowse link
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
JBrowse link
G Kiaa2013 KIAA2013 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,371,925...158,378,195
Ensembl chr 5:158,371,955...158,378,195
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 LOC102551309 uncharacterized LOC102551309 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,495,514...158,505,671 JBrowse link
G LOC691354 hypothetical protein LOC691354 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
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 Mad2l2 mitotic arrest deficient 2 like 2 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693
JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
JBrowse link
G Miip migration and invasion inhibitory protein ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,292,510...158,299,531
Ensembl chr 5:158,292,511...158,299,694
JBrowse link
G Mir34a microRNA 34a ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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 Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Nppb natriuretic peptide B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive 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 Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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 Rere arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677
JBrowse link
G Slc25a33 solute carrier family 25 member 33 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,195,040...160,219,961
Ensembl chr 5:160,195,042...160,219,961
JBrowse link
G Slc2a5 solute carrier family 2 member 5 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,583,055...160,609,994
Ensembl chr 5:160,583,234...160,611,106
JBrowse link
G Slc2a7 solute carrier family 2 member 7 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,624,793...160,643,994
Ensembl chr 5:160,624,793...160,643,514
JBrowse link
G Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,358,292...160,418,541
Ensembl chr 5:160,358,308...160,418,468
JBrowse link
G Srm spermidine synthase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,025,919...159,029,076
Ensembl chr 5:159,025,873...159,029,405
JBrowse link
G Tardbp TAR DNA binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link
G Tmem201 transmembrane protein 201 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:160,166,240...160,188,874
Ensembl chr 5:160,166,427...160,188,843
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:158,856,582...158,880,490
Ensembl chr 5:158,868,672...158,880,271
JBrowse link
G Vps13d vacuolar protein sorting 13 homolog D ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
JBrowse link
immunodeficiency 15A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO ClinVar Annotator: match by term: Immunodeficiency 15a OMIM
ClinVar
PMID: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 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
JBrowse link
G Klhl17 kelch-like family member 17 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
JBrowse link
G Noc2l NOC2-like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,820,075...166,831,951
Ensembl chr 5:166,820,161...166,831,949
JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
JBrowse link
G Plekhn1 pleckstrin homology domain containing N1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,462,610...165,465,213 JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611
JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,720,408...166,726,236
Ensembl chr 5:166,724,984...166,725,751
JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,831,663...166,859,805
Ensembl chr 5:166,831,663...166,850,009
JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,579,327...164,584,650 JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,048,667...166,050,423
Ensembl chr 5:166,046,565...166,050,433
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency OMIM
ClinVar
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:21031596 More... NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
JBrowse link
G Tprg1l tumor protein p63 regulated 1-like ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
JBrowse link
immunodeficiency 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:14981714 PMID:24033266 PMID:24589341 PMID:24698316 PMID:24931394 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 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 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:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:11135494 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 OMIM
ClinVar
PMID:24033266 PMID:25365219 PMID:28492532 PMID:32008135 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: DOCK2 deficiency 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: DOCK2 deficiency OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26083206 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: DOCK2 deficiency 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: DOCK2 deficiency 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: DOCK2 deficiency 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: DOCK2 deficiency 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: DOCK2 deficiency 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: DOCK2 deficiency ClinVar PMID:28492532 NCBI chr10:18,642,600...18,689,562
Ensembl chr10:18,642,658...18,689,559
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: TFRC-related combined immunodeficiency OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26642240 PMID:28492532 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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 OMIM
ClinVar
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 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 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22235133 PMID:23440042 PMID:24033266 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: Severe combined immunodeficiency due to CARMIL2 deficiency OMIM
ClinVar
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 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bach2 BTB domain and CNC homolog 2 ISO ClinVar Annotator: match by term: Immunodeficiency 60 OMIM
ClinVar
PMID: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 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 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: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 OMIM
ClinVar
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
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 DNA:mutations:cds:p.D231H, G284S (human)
DNA:mutation:exon:p.R188X(human)
DNA:mutations:multiple
DNA:deletion, nonsense mutations:exons:1622_1657del, 2200G>T (human)
ClinVar Annotator: match by term: Leukocyte adhesion deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9653089 PMID:1968911 PMID:10886250 PMID:21103413 PMID:20549317 More... RGD:1600220, RGD:6482222, RGD:6482223, RGD:6482224, RGD:6482225 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 Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948
JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358
JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
JBrowse link
G C2cd2 C2 calcium-dependent domain containing 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,614,933...10,629,516
Ensembl chr20:10,614,934...10,629,516
JBrowse link
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 Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885
JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242
JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703
JBrowse link
G Itgb2 integrin subunit beta 2 susceptibility ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1
DNA:polymorphisms:multiple (human)
OMIM
ClinVar
RGD
PMID:1346132 PMID:1346613 PMID:1347532 PMID:1590804 PMID:1694220 More... RGD:6482224 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,917,578...10,917,910 JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,904,257...10,904,751 JBrowse link
G Krtap12-4 keratin associated protein 12-4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,910,203...10,911,281 JBrowse link
G LOC690460 similar to keratin associated protein 10-7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,888,588...10,896,525 JBrowse link
G LOC690478 similar to keratin associated protein 10-7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526
JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067
JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165
JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074
JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210
JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315
JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727
JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743
JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207
JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316
JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640
JBrowse link
G RGD1564149 similar to Protein C21orf58 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017
JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144
JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892
JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521
JBrowse link
G Spatc1l spermatogenesis and centriole associated 1-like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301
JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877
Ensembl chr20:11,007,148...11,020,877
JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181
JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
JBrowse link
G Ubash3a ubiquitin associated and SH3 domain containing, A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224
JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447
JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713
JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar PMID:28492532 NCBI chr11:37,311,860...37,327,040
Ensembl chr11:37,312,378...37,326,996
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 3
DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human)
OMIM
ClinVar
RGD
PMID:9536098 PMID:12511588 PMID:17576681 PMID:18779414 PMID:19064721 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
purine nucleoside phosphorylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:28492532 NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785
JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:28492532 NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
JBrowse link
G Pip4p1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:28492532 NCBI chr15:24,146,854...24,150,739
Ensembl chr15:24,146,856...24,150,702
JBrowse link
G Pnp purine nucleoside phosphorylase ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1384322 PMID:3029074 PMID:8931706 PMID:9067751 PMID:9403342 More... NCBI chr15:24,170,456...24,178,274
Ensembl chr15:24,170,602...24,203,986
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: X-linked immunodeficiency 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: X-linked immunodeficiency 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: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 More... NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699
JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:28492532 NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      primary immunodeficiency disease 3831
        combined immunodeficiency 771
          combined T cell and B cell immunodeficiency 240
            CD40 ligand deficiency + 13
            DNA ligase IV deficiency 1
            Good syndrome 0
            Woods Black Norbury Syndrome 0
            X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 4
            immunodeficiency 14 52
            immunodeficiency 15A 1
            immunodeficiency 16 67
            immunodeficiency 23 8
            immunodeficiency 36 1
            immunodeficiency 37 1
            immunodeficiency 40 8
            immunodeficiency 46 1
            immunodeficiency 53 1
            immunodeficiency 56 1
            immunodeficiency 58 2
            immunodeficiency 60 1
            immunodeficiency 70 1
            immunodeficiency with hyper IgM type 3 1
            leukocyte adhesion deficiency + 64
            purine nucleoside phosphorylase deficiency 4
Path 2
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  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            X-linked monogenic disease 1194
              combined T cell and B cell immunodeficiency 240
                CD40 ligand deficiency + 13
                DNA ligase IV deficiency 1
                Good syndrome 0
                Woods Black Norbury Syndrome 0
                X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 4
                immunodeficiency 14 52
                immunodeficiency 15A 1
                immunodeficiency 16 67
                immunodeficiency 23 8
                immunodeficiency 36 1
                immunodeficiency 37 1
                immunodeficiency 40 8
                immunodeficiency 46 1
                immunodeficiency 53 1
                immunodeficiency 56 1
                immunodeficiency 58 2
                immunodeficiency 60 1
                immunodeficiency 70 1
                immunodeficiency with hyper IgM type 3 1
                leukocyte adhesion deficiency + 64
                purine nucleoside phosphorylase deficiency 4
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