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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 Immunodeficiency Diseases;   X-linked combined immunodeficiencies;   X-linked combined immunodeficiency;   X-linked immunodeficiency diseases;   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.



show annotations for term's descendants           Sort by:
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: Congenital combined immunodeficiency ClinVar PMID:25741868 NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
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 chr 5:81,792,683...81,804,274
Ensembl chr 5:81,792,155...81,804,152
JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar PMID:25741868 PMID:25843314 PMID:28492532 PMID:32499645 NCBI chr27:38,534,704...38,537,806
Ensembl chr27:38,534,707...38,537,604
JBrowse link
G CD40LG CD40 ligand ISO DNA:polymorphism: :p.G219R (human) RGD PMID:21543760 RGD:5490593 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma ISO
IAGP
Severe combined immunodeficiency disease, X-linked
ClinVar Annotator: match by term: Combined immunodeficiency, X-linked | ClinVar Annotator: match by term: X-Linked Combined Immunodeficiency Diseases
OMIM
OMIA
ClinVar
PMID:7557965 PMID:7632950 PMID:7668284 PMID:7883965 PMID:7973658 More... NCBI chr  X:55,480,846...55,488,485
Ensembl chr  X:55,481,092...55,484,751
JBrowse link
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 chr 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
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: Immunodeficiency, X-linked, with hyper-IgM OMIM
ClinVar
RGD
PMID:21841160 PMID:25741868 RGD:5490298 NCBI chr  X:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006
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 | ClinVar Annotator: match by term: Lig4 syndrome OMIM
ClinVar
PMID:1779494 PMID:2489227 PMID:2523926 PMID:5333585 PMID:7063650 More... NCBI chr22:56,980,333...56,987,636
Ensembl chr22:56,980,622...56,983,357
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: Ectodermal dysplasia and immunodeficiency 1 ClinVar PMID:25741868 NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
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 OMIM
ClinVar
PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 More... NCBI chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562
JBrowse link
immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPTL7 angiopoietin like 7 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 2:84,876,881...84,883,582
Ensembl chr 2:84,877,682...84,883,160
JBrowse link
G CASZ1 castor zinc finger 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 2:85,194,640...85,218,068
Ensembl chr 2:85,176,161...85,232,920
JBrowse link
G DFFA DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 2:85,364,819...85,372,473
Ensembl chr 2:85,364,851...85,373,772
JBrowse link
G EXOSC10 exosome component 10 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 2:84,942,801...84,964,129
Ensembl chr 2:84,942,777...84,964,130
JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT ClinVar PMID:5448 PMID:1303173 PMID:1924316 PMID:2572288 PMID:2836867 More... NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678
JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:63,367,294...63,516,388
Ensembl chr 5:63,376,820...63,513,476
JBrowse link
G LOC479600 beta-catenin-interacting protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:62,937,154...63,093,083
Ensembl chr 5:62,938,511...63,093,275
JBrowse link
G LZIC leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:63,110,854...63,122,488
Ensembl chr 5:63,113,191...63,122,750
JBrowse link
G MASP2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 2:84,976,366...84,987,376
Ensembl chr 2:84,976,456...84,989,797
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:63,122,379...63,152,078
Ensembl chr 5:63,122,498...63,151,661
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 2:85,224,376...85,362,684
Ensembl chr 2:85,224,365...85,389,069
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 2:85,379,378...85,389,175 JBrowse link
G PGD phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 2:85,393,526...85,408,714
Ensembl chr 2:85,393,819...85,408,272
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 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive | ClinVar Annotator: match by term: p110-DELTA-ACTIVATING MUTATION CAUSING SENESCENT T CELLS, LYMPHADENOPATHY, AND IMMUNODEFICIENCY OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16984281 PMID:17576681 PMID:24136356 More... NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971
JBrowse link
G RBP7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:63,163,201...63,180,338
Ensembl chr 5:63,162,523...63,180,331
JBrowse link
G SRM spermidine synthase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 2:84,968,833...84,973,111
Ensembl chr 2:84,967,570...84,973,087
JBrowse link
G TARDBP TAR DNA binding protein ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 2:84,987,752...84,998,136
Ensembl chr 2:84,989,952...84,998,593
JBrowse link
G UBE4B ubiquitination factor E4B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:63,214,846...63,339,218
Ensembl chr 5:63,215,470...63,338,215
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 chr16:23,359,551...23,419,114
Ensembl chr16:23,359,813...23,419,075
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,466,833...56,482,023
Ensembl chr 5:56,468,164...56,481,913
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,659,055...57,660,479
Ensembl chr 5:57,659,262...57,660,395
JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,239,621...56,273,679
Ensembl chr 5:56,239,701...56,272,745
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,564,686...56,568,194
Ensembl chr 5:56,565,514...56,567,376
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,031,246...58,051,936
Ensembl chr 5:58,030,459...58,051,936
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746
JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,539,987...56,541,578
Ensembl chr 5:56,539,991...56,541,388
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,421,687...56,423,120
Ensembl chr 5:56,405,372...56,422,771
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,433,555...56,438,419
Ensembl chr 5:56,433,552...56,438,339
JBrowse link
G C5H1orf159 chromosome 5 C1orf159 homolog ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,296,633...56,330,358
Ensembl chr 5:56,297,635...56,307,616
JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,901,401...56,904,422
Ensembl chr 5:56,901,715...56,904,424
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,266,091...58,280,997
Ensembl chr 5:58,269,308...58,279,829
JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,542,358...56,550,701
Ensembl chr 5:56,542,566...56,550,691
JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,698,267...56,714,075 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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,301,767...58,339,920
Ensembl chr 5:58,305,589...58,335,438
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,909,092...56,970,980
Ensembl chr 5:56,909,486...56,961,903
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,498,163...56,501,918
Ensembl chr 5:56,498,207...56,500,845
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,507,803...56,519,382
Ensembl chr 5:56,507,739...56,519,491
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,114,784...57,122,854 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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,660,721...56,662,696 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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295
JBrowse link
G HES4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,221,509...56,226,938
Ensembl chr 5:56,225,497...56,226,772
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,387,961...57,389,412
Ensembl chr 5:57,388,674...57,389,388
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,485,690...56,498,074
Ensembl chr 5:56,485,948...56,498,017
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,230,879...56,237,354
Ensembl chr 5:56,236,318...56,404,695
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,186,077...56,193,671
Ensembl chr 5:56,187,922...56,192,983
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,286,909...58,297,961
Ensembl chr 5:58,288,392...58,297,996
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,058,833...58,145,855
Ensembl chr 5:58,059,031...58,146,193
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,680,526...56,693,551
Ensembl chr 5:56,581,550...56,693,544
JBrowse link
G MIR200A microRNA mir-200a ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,369,063...56,369,152
Ensembl chr 5:56,369,061...56,369,151
JBrowse link
G MIR200B microRNA mir-200b ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479
JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,693,751...56,697,284
Ensembl chr 5:56,694,966...56,697,284
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,227,265...57,275,292
Ensembl chr 5:57,227,315...57,277,669
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,553,326...56,558,182
Ensembl chr 5:56,553,331...56,558,136
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,522,283...56,526,750
Ensembl chr 5:56,522,470...56,526,668
JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,743,920...56,774,578
Ensembl chr 5:56,745,869...56,774,529
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,172,399...56,185,993
Ensembl chr 5:56,172,446...56,185,932
JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,370,624...57,386,095
Ensembl chr 5:57,370,946...57,386,089
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,289,530...57,291,864
Ensembl chr 5:57,289,326...57,291,802
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,303,160...57,368,568
Ensembl chr 5:57,302,996...57,371,468
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,193,824...56,202,340
Ensembl chr 5:56,194,583...56,202,293
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,012,020...57,113,346
Ensembl chr 5:57,012,070...57,112,664
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,429,973...57,434,371
Ensembl chr 5:57,429,212...57,434,210
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,482,802...56,485,778
Ensembl chr 5:56,482,363...56,485,783
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,278,349...57,288,564
Ensembl chr 5:57,278,371...57,285,870
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,290,548...56,293,473 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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,119,207...56,175,267
Ensembl chr 5:56,151,171...56,172,055
JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,407,506...56,421,515
Ensembl chr 5:56,407,807...56,421,430
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,144,178...57,216,385
Ensembl chr 5:57,145,825...57,214,403
JBrowse link
G SLC35E2 solute carrier family 35 member E2 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,715,798...56,739,464
Ensembl chr 5:56,718,550...56,738,420
JBrowse link
G SMIM1 small integral membrane protein 1 ISO ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,281,962...58,285,071
Ensembl chr 5:58,282,347...58,284,616
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,620,803...56,650,131
Ensembl chr 5:56,620,805...56,650,131
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,503,720...56,506,883
Ensembl chr 5:56,503,720...56,506,898
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,613,561...56,619,693
Ensembl chr 5:56,614,201...56,619,693
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,900,297...56,906,565
Ensembl chr 5:56,901,674...56,906,500
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,569,512...56,573,353
Ensembl chr 5:56,569,814...56,571,310
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,386,190...57,416,864
Ensembl chr 5:57,411,529...57,416,512
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741
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:16199547 PMID:17576681 More... NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,155,178...58,159,880
Ensembl chr 5:58,157,096...58,159,880
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:57,470,807...57,481,874
Ensembl chr 5:57,473,001...57,490,971
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,364,247...56,390,899
Ensembl chr 5:56,336,884...56,388,693
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,440,394...56,455,491
Ensembl chr 5:56,441,821...56,455,460
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:56,578,256...56,583,552
Ensembl chr 5:56,578,297...56,582,502
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:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 5:58,160,438...58,176,011
Ensembl chr 5:58,160,431...58,175,920
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:17548465 PMID:17576681 PMID:24033266 More... NCBI chr12:43,477,738...43,585,482
Ensembl chr12:43,478,637...43,585,745
JBrowse link
G ME1 malic enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr12:43,623,413...43,793,590
Ensembl chr12:43,624,945...43,828,775
JBrowse link
G PGM3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY-VASCULITIS-MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Immunodeficiency 23 OMIM
ClinVar
PMID:1245758 PMID:3500672 PMID:9536098 PMID:14981714 PMID:16199547 More... NCBI chr12:43,582,472...43,611,583
Ensembl chr12:43,584,940...43,611,777
JBrowse link
G PRSS35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr12:43,892,492...43,907,050
Ensembl chr12:43,891,652...43,905,441
JBrowse link
G RWDD2A RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr12:43,611,589...43,614,843
Ensembl chr12:43,611,670...43,614,603
JBrowse link
G SNAP91 synaptosome associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr12:43,919,925...44,058,315
Ensembl chr12:43,919,925...44,058,616
JBrowse link
G TPBG trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr12:42,872,289...42,878,071
Ensembl chr12:42,871,239...42,875,151
JBrowse link
G UBE3D ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr12:43,264,956...43,475,583
Ensembl chr12:43,282,372...43,476,086
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 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
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:9536098 PMID:17576681 PMID:24033266 PMID:25365219 PMID:25741868 More... NCBI chr 6:62,712,937...62,723,852
Ensembl chr 6:62,712,971...62,722,368
JBrowse link
immunodeficiency 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4H5orf58 chromosome 4 C5orf58 homolog ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 4:41,656,638...41,665,051 JBrowse link
G DOCK2 dedicator of cytokinesis 2 ISO ClinVar Annotator: match by term: DOCK2 deficiency | ClinVar Annotator: match by term: Immunodeficiency 40 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26083206 More... NCBI chr 4:41,779,950...42,177,957
Ensembl chr 4:41,780,436...42,235,177
JBrowse link
G FOXI1 forkhead box I1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 4:41,760,899...41,764,887
Ensembl chr 4:41,761,016...41,764,836
JBrowse link
G INSYN2B inhibitory synaptic factor family member 2B ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:25741868 PMID:26083206 PMID:28492532 NCBI chr 4:41,871,751...41,987,310
Ensembl chr 4:41,964,892...42,024,748
JBrowse link
G MIR103-1 microRNA mir-103-1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 4:43,182,876...43,182,937
Ensembl chr 4:43,182,871...43,182,942
JBrowse link
G PANK3 pantothenate kinase 3 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 4:43,168,407...43,192,451
Ensembl chr 4:43,137,709...43,186,022
JBrowse link
G RARS1 arginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 4:43,237,499...43,260,738
Ensembl chr 4:43,237,499...43,260,677
JBrowse link
G SLIT3 slit guidance ligand 3 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 4:42,506,680...43,099,053
Ensembl chr 4:42,508,426...43,094,714
JBrowse link
G SPDL1 spindle apparatus coiled-coil protein 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 4:42,214,997...42,235,282
Ensembl chr 4:41,780,436...42,235,177
JBrowse link
G WWC1 WW and C2 domain containing 1 ISO ClinVar Annotator: match by term: DOCK2 deficiency ClinVar PMID:26083206 PMID:28492532 NCBI chr 4:43,279,788...43,431,503
Ensembl chr 4:43,280,447...43,431,144
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 chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242
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: RELB-related condition OMIM
ClinVar
PMID:25741868 PMID:26385063 PMID:28492532 NCBI chr 1:110,436,677...110,466,709
Ensembl chr 1:110,436,662...110,466,809
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:16199547 PMID:17576681 PMID:22235133 PMID:23440042 More... NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931
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 chr 5:81,789,915...81,792,725
Ensembl chr 5:81,789,997...81,792,639
JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: CARMIL2-related condition | ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency OMIM
ClinVar
PMID:16199547 PMID:25741868 PMID:27647349 PMID:27896283 PMID:28112205 More... NCBI chr 5:81,792,683...81,804,274
Ensembl chr 5:81,792,155...81,804,152
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: BACH2-related condition | ClinVar Annotator: match by term: Immunodeficiency 60 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28530713 NCBI chr12:49,101,621...49,375,415
Ensembl chr12:49,106,523...49,460,286
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 OMIM
ClinVar
PMID:32499645 NCBI chr 7:18,430,970...18,444,573
Ensembl chr 7:18,431,553...18,444,573
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: CD40-related condition | 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 chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
leukocyte adhesion deficiency 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 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:52,833,954...52,851,775
Ensembl chr18:52,834,001...52,851,667
JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency ClinVar NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
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 chr18:52,833,954...52,851,775
Ensembl chr18:52,834,001...52,851,667
JBrowse link
G ITGB2 integrin subunit beta 2 susceptibility ISO
IAGP
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1
Leukocyte adhesion deficiency, type I
DNA:polymorphisms:multiple (human)
OMIM
ClinVar
OMIA
RGD
PMID:1346132 PMID:1346613 PMID:1347532 PMID:1352926 PMID:1590804 More... RGD:6482224 NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: LEUKOCYTE ADHESION DEFICIENCY, TYPE I ClinVar PMID:9536098 PMID:17576681 PMID:25589632 PMID:26639818 PMID:27493940 More... NCBI chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826
JBrowse link
leukocyte adhesion deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHNAK AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,085,186...54,116,011
Ensembl chr18:54,100,942...54,113,424
JBrowse link
G ARL2 ADP ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,169,225...52,175,782 JBrowse link
G ASRGL1 asparaginase and isoaspartyl peptidase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,215,920...54,238,094
Ensembl chr18:54,216,926...54,238,059
JBrowse link
G ATG2A autophagy related 2A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,258,070...52,277,953
Ensembl chr18:52,258,187...52,277,965
JBrowse link
G ATL3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,306,544...53,364,012
Ensembl chr18:53,306,364...53,360,311
JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,020,547...54,025,264
Ensembl chr18:54,020,736...54,024,910
JBrowse link
G BAD BCL2 associated agonist of cell death ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405
JBrowse link
G BATF2 basic leucine zipper ATF-like transcription factor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,176,681...52,196,365
Ensembl chr18:52,175,549...52,195,404
JBrowse link
G BEST1 bestrophin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,468,844...54,483,565
Ensembl chr18:54,468,844...54,480,311
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,958,380...53,971,120
Ensembl chr18:53,958,475...53,971,119
JBrowse link
G C18H11orf98 chromosome 18 C11orf98 homolog ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,992,413...53,995,549
Ensembl chr18:53,988,600...53,995,543
JBrowse link
G CAPN1 calpain 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757
JBrowse link
G CATSPERZ catsper channel auxiliary subunit zeta ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,763,714...52,766,857 JBrowse link
G CBLIF cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr21:50,334,769...50,350,598
Ensembl chr21:50,334,769...50,350,598
JBrowse link
G CCDC86 coiled-coil domain containing 86 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,431,768...55,437,612
Ensembl chr18:55,432,310...55,438,286
JBrowse link
G CCDC88B coiled-coil domain containing 88B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,722,197...52,737,023
Ensembl chr18:52,708,838...52,736,728
JBrowse link
G CD5 CD5 molecule ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,216,415...55,235,567
Ensembl chr18:55,217,276...55,235,405
JBrowse link
G CD6 CD6 molecule ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,296,116...55,336,014
Ensembl chr18:55,296,986...55,335,880
JBrowse link
G CDC42BPG CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,319,363...52,338,531
Ensembl chr18:52,319,453...52,337,203
JBrowse link
G CDCA5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,115,081...52,129,223
Ensembl chr18:52,115,203...52,120,817
JBrowse link
G CHRM1 cholinergic receptor muscarinic 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,783,938...53,797,750
Ensembl chr18:53,795,326...53,796,708
JBrowse link
G COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,048,902...53,050,528
Ensembl chr18:53,048,902...53,050,528
JBrowse link
G CPSF7 cleavage and polyadenylation specific factor 7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,986,709...55,012,499
Ensembl chr18:54,986,810...55,009,382
JBrowse link
G CSKMT citrate synthase lysine methyltransferase ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,990,875...53,992,445
Ensembl chr18:53,990,895...53,991,774
JBrowse link
G CYB561A3 cytochrome b561 family member A3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,039,788...55,049,739
Ensembl chr18:55,043,942...55,049,143
JBrowse link
G DAGLA diacylglycerol lipase alpha ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,727,932...54,754,077
Ensembl chr18:54,730,454...54,752,646
JBrowse link
G DDB1 damage specific DNA binding protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,064,720...55,097,623
Ensembl chr18:55,064,729...55,097,627
JBrowse link
G DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,825,099...52,829,069
Ensembl chr18:52,825,100...52,831,523
JBrowse link
G DTX4 deltex E3 ubiquitin ligase 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:37,535,957...37,570,937
Ensembl chr18:37,538,342...37,591,589
JBrowse link
G EEF1G eukaryotic translation elongation factor 1 gamma ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,062,420...54,075,181 JBrowse link
G EHD1 EH domain containing 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,291,304...52,312,787
Ensembl chr18:52,291,327...52,311,526
JBrowse link
G EML3 EMAP like 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,027,836...54,037,398
Ensembl chr18:54,028,188...54,037,163
JBrowse link
G ESRRA estrogen related receptor alpha ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,755,547...52,762,938
Ensembl chr18:52,756,344...52,763,355
JBrowse link
G FADS1 fatty acid desaturase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,659,406...54,672,803
Ensembl chr18:54,659,406...54,670,623
JBrowse link
G FADS2 fatty acid desaturase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,552,105...54,581,553
Ensembl chr18:54,553,366...54,659,654
JBrowse link
G FADS3 fatty acid desaturase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,532,141...54,547,558 JBrowse link
G FAM111A FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:37,584,326...37,595,316 JBrowse link
G FAU FAU ubiquitin like and ribosomal protein S30 fusion ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,072,705...52,074,337
Ensembl chr18:52,072,796...52,074,336
JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,680,627...54,686,502
Ensembl chr18:54,681,760...54,682,902
JBrowse link
G FERMT3 FERM domain containing kindlin 3 ISO
IAGP
Leukocyte adhesion deficiency, type III
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
OMIM
OMIA
ClinVar
PMID:9536098 PMID:12511588 PMID:16199547 PMID:17576681 PMID:18779414 More... NCBI chr18:52,833,954...52,851,775
Ensembl chr18:52,834,001...52,851,667
JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,926,735...52,958,089
Ensembl chr18:52,927,572...52,929,659
JBrowse link
G FTH1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,466,167...54,468,733
Ensembl chr18:54,466,023...54,468,732
JBrowse link
G GANAB glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,004,296...54,019,148
Ensembl chr18:54,003,689...54,018,157
JBrowse link
G GNG3 G protein subunit gamma 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,958,798...53,960,363
Ensembl chr18:53,958,804...53,960,284
JBrowse link
G GPHA2 glycoprotein hormone subunit alpha 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,211,748...52,244,591
Ensembl chr18:52,211,716...52,240,823
Ensembl chr18:52,211,716...52,240,823
JBrowse link
G GPR137 G protein-coupled receptor 137 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,776,857...52,781,050
Ensembl chr18:52,776,858...52,779,783
JBrowse link
G HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,942,515...53,953,343 JBrowse link
G INCENP inner centromere protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,361,376...54,384,649
Ensembl chr18:54,361,378...54,384,641
JBrowse link
G INTS5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,998,828...54,004,127
Ensembl chr18:53,998,897...54,003,957
JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:25741868 NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
JBrowse link
G KCNK4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,767,151...52,775,053
Ensembl chr18:52,767,414...52,773,369
JBrowse link
G LGALS12 galectin 12 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,428,894...53,446,767
Ensembl chr18:53,437,562...53,447,013
JBrowse link
G LOC100687441 secretoglobin family 1D member 2-like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,335,333...54,338,102 JBrowse link
G LOC100688091 small nucleolar RNA SNORD22 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,841,419...53,850,465 JBrowse link
G LOC102153191 membrane-spanning 4-domains subfamily A member 4A-like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr21:50,497,486...50,504,173 JBrowse link
G LOC102155828 membrane-spanning 4-domains subfamily A member 3-like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr21:50,480,386...50,495,379 JBrowse link
G LOC102155967 high affinity immunoglobulin epsilon receptor subunit beta-like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr21:50,556,686...50,564,599 JBrowse link
G LOC119864357 small nucleolar RNA SNORD28 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532
G LOC119864358 small nucleolar RNA SNORD27 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532
G LOC119864359 small nucleolar RNA SNORD26 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532
G LOC119864360 small nucleolar RNA SNORD30 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532
G LOC476047 solute carrier family 22 member 9 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,504,102...53,546,354
Ensembl chr18:53,504,625...53,546,200
JBrowse link
G LOC476900 membrane-spanning 4-domains subfamily A member 4A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr21:50,598,991...50,614,428 JBrowse link
G LOC612036 solute carrier family 22 member 20-like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:51,925,890...51,939,184 JBrowse link
G LOC612553 membrane-spanning 4-domains subfamily A member 6D ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr21:50,569,747...50,579,721 JBrowse link
G LRRC10B leucine rich repeat containing 10B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,928,483...54,930,469
Ensembl chr18:54,929,548...54,930,426
JBrowse link
G LRRN4CL LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,971,590...53,973,958
Ensembl chr18:53,972,490...53,973,203
JBrowse link
G MACROD1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,883,335...53,033,490
Ensembl chr18:52,883,362...53,162,034
JBrowse link
G MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,353,606...52,367,065
Ensembl chr18:52,353,232...52,366,712
JBrowse link
G MARK2 microtubule affinity regulating kinase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,101,635...53,125,636
Ensembl chr18:53,101,624...53,151,561
JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340
JBrowse link
G MIR192 microRNA mir-192 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,281,129...52,281,193
Ensembl chr18:52,281,129...52,281,193
JBrowse link
G MPEG1 macrophage expressed 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:37,530,895...37,535,334
Ensembl chr18:37,531,032...37,533,179
JBrowse link
G MRPL16 mitochondrial ribosomal protein L16 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr21:50,323,112...50,326,855 JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,068,576...52,072,642
Ensembl chr18:52,069,605...52,072,591
JBrowse link
G MS4A1 membrane spanning 4-domains A1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr21:50,722,142...50,734,934
Ensembl chr21:50,722,041...50,733,704
JBrowse link
G MS4A13 membrane spanning 4-domains A13 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,740,313...55,762,266
Ensembl chr18:55,740,740...55,762,262
JBrowse link
G MS4A14 membrane spanning 4-domains A14 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr21:50,663,060...50,690,248 JBrowse link
G MS4A15 membrane spanning 4-domains A15 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,488,523...55,496,359 JBrowse link
G MS4A2 membrane spanning 4-domains A2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr21:50,439,133...50,456,785
Ensembl chr21:50,450,024...50,456,785
JBrowse link
G MS4A5 membrane spanning 4-domains A5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr21:50,699,879...50,717,355 JBrowse link
G MS4A7 membrane spanning 4-domains A7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr21:50,640,800...50,657,703
Ensembl chr21:50,640,411...50,661,968
JBrowse link
G MTA2 metastasis associated 1 family member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,038,073...54,046,376
Ensembl chr18:54,038,212...54,046,059
JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,690,073...54,723,046
Ensembl chr18:54,692,453...54,723,085
JBrowse link
G NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,054,662...53,077,156
Ensembl chr18:53,048,903...53,069,496
JBrowse link
G NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,136,258...52,148,462
Ensembl chr18:52,136,358...52,148,674
JBrowse link
G NRXN2 neurexin 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,439,836...52,537,577
Ensembl chr18:52,439,230...52,536,401
JBrowse link
G NUDT22 nudix hydrolase 22 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,828,973...52,831,550
Ensembl chr18:52,829,015...52,831,787
JBrowse link
G NXF1 nuclear RNA export factor 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,884,512...53,895,168
Ensembl chr18:53,884,546...53,895,162
JBrowse link
G OR10V1 olfactory receptor family 10 subfamily V member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:37,071,666...37,072,595
Ensembl chr18:37,071,666...37,072,595
JBrowse link
G OR4D11 olfactory receptor family 4 subfamily D member 11 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:37,235,626...37,236,561
Ensembl chr18:37,235,626...37,236,561
JBrowse link
G OR4D6 olfactory receptor family 4 subfamily D member 6 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:37,275,086...37,276,021
Ensembl chr18:37,275,086...37,276,021
JBrowse link
G OR4D9 olfactory receptor family 4 subfamily D member 9 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:37,225,144...37,226,200
Ensembl chr18:37,224,676...37,226,079
JBrowse link
G OR4D9C olfactory receptor family 4 subfamily D member 9C ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:37,249,661...37,250,596
Ensembl chr18:37,249,661...37,250,596
JBrowse link
G OR5A1 olfactory receptor family 5 subfamily A member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:37,290,621...37,291,580
Ensembl chr18:37,290,621...37,291,580
JBrowse link
G OR5A2 olfactory receptor family 5 subfamily A member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:37,313,921...37,314,880
Ensembl chr18:37,313,921...37,315,366
JBrowse link
G OR5AN1 olfactory receptor family 5 subfamily AN member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:37,329,690...37,330,628
Ensembl chr18:37,329,690...37,330,744
JBrowse link
G OSBP oxysterol binding protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:37,159,511...37,191,720
Ensembl chr18:37,159,576...37,189,731
JBrowse link
G OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 3:40,225,531...40,226,507
Ensembl chr 3:40,225,474...40,226,612
Ensembl chr18:40,225,474...40,226,612
JBrowse link
G PATL1 PAT1 homolog 1, processing body mRNA decay factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:37,109,288...37,138,756
Ensembl chr18:37,109,410...37,137,156
JBrowse link
G PGA pepsinogen 5, group I (pepsinogen A) ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,131,441...55,140,119
Ensembl chr18:55,110,175...55,163,084
JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,367,441...53,412,165
Ensembl chr18:53,368,030...53,398,290
JBrowse link
G PLAAT4 phospholipase A and acyltransferase 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,418,184...53,424,027
Ensembl chr18:53,418,368...53,423,886
JBrowse link
G PLAAT5 phospholipase A and acyltransferase 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,451,302...53,465,375
Ensembl chr18:53,450,387...53,463,314
JBrowse link
G PLCB3 phospholipase C beta 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,793,848...52,809,065
Ensembl chr18:52,793,838...52,809,070
JBrowse link
G POLR2G RNA polymerase II subunit G ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,916,431...53,919,724
Ensembl chr18:53,916,435...53,919,549
JBrowse link
G PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,813,829...52,816,365
Ensembl chr18:52,814,174...52,816,365
JBrowse link
G PPP2R5B protein phosphatase 2 regulatory subunit B'beta ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,244,588...52,253,055
Ensembl chr18:52,244,736...52,252,237
JBrowse link
G PRDX5 peroxiredoxin 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,750,977...52,754,432 JBrowse link
G PRPF19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,389,902...55,400,241
Ensembl chr18:55,389,897...55,400,240
JBrowse link
G PTGDR2 prostaglandin D2 receptor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,426,632...55,431,916
Ensembl chr18:55,429,308...55,430,510
JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,398,192...52,410,731
Ensembl chr18:52,398,056...52,410,464
JBrowse link
G RAB3IL1 RAB3A interacting protein like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,483,669...54,528,199
Ensembl chr18:54,484,177...54,547,523
JBrowse link
G RASGRP2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,412,331...52,426,910
Ensembl chr18:52,412,367...52,426,916
JBrowse link
G RCOR2 REST corepressor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,096,599...53,101,427
Ensembl chr18:53,096,592...53,100,808
JBrowse link
G ROM1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,025,603...54,027,803
Ensembl chr18:54,025,606...54,027,375
JBrowse link
G RPS6KA4 ribosomal protein S6 kinase A4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,708,849...52,720,561
Ensembl chr18:52,708,838...52,736,728
JBrowse link
G RTN3 reticulon 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,239,893...53,298,020
Ensembl chr18:53,239,914...53,297,984
JBrowse link
G SAC3D1 SAC3 domain containing 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,148,661...52,151,920
Ensembl chr18:52,148,723...52,151,603
JBrowse link
G SAXO4 stabilizer of axonemal microtubules 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,943,646...54,952,100
Ensembl chr18:54,943,670...54,950,994
JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,187,487...54,191,493
Ensembl chr18:54,187,487...54,191,482
JBrowse link
G SCGB2A2 secretoglobin family 2A member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,313,503...54,316,375 JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,970,987...54,986,676
Ensembl chr18:54,971,658...54,987,394
JBrowse link
G SF1 splicing factor 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,380,058...52,393,833
Ensembl chr18:52,380,211...52,393,048
JBrowse link
G SLC15A3 solute carrier family 15 member 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,354,987...55,363,672 JBrowse link
G SLC22A10 solute carrier family 22 member 10 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,597,148...53,628,569
Ensembl chr18:53,597,533...53,628,165
JBrowse link
G SLC22A11 solute carrier family 22 member 11 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,567,074...52,583,574
Ensembl chr18:52,568,396...52,583,844
JBrowse link
G SLC22A12 solute carrier family 22 member 12 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,541,820...52,550,037
Ensembl chr18:52,542,497...52,549,655
JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,736,669...53,745,001
Ensembl chr18:53,736,959...53,744,396
JBrowse link
G SLC22A8 solute carrier family 22 member 8 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,709,592...53,728,595
Ensembl chr18:53,709,591...53,728,578
JBrowse link
G SLC3A2 solute carrier family 3 member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,810,468...53,819,021
Ensembl chr18:53,810,398...53,819,021
JBrowse link
G SNX15 sorting nexin 15 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,152,562...52,165,081
Ensembl chr18:52,152,561...52,165,048
JBrowse link
G SPDYC speedy/RINGO cell cycle regulator family member C ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,020,593...52,061,076
Ensembl chr18:52,020,785...52,022,762
JBrowse link
G SPINDOC spindlin interactor and repressor of chromatin binding ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,169,242...53,185,017
Ensembl chr18:53,174,021...53,185,370
JBrowse link
G STIP1 stress induced phosphoprotein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,854,262...52,868,187
Ensembl chr18:52,854,663...52,868,478
JBrowse link
G STX3 syntaxin 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr21:50,298,040...50,322,773
Ensembl chr21:50,298,158...50,318,663
JBrowse link
G STX5 syntaxin 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,862,432...53,883,091
Ensembl chr18:53,862,541...53,882,536
JBrowse link
G SYT7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,863,072...54,926,121
Ensembl chr18:54,861,754...54,921,367
JBrowse link
G SYVN1 synoviolin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,061,284...52,068,672
Ensembl chr18:52,060,347...52,067,582
JBrowse link
G TAF6L TATA-box binding protein associated factor 6 like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,898,748...53,910,836
Ensembl chr18:53,898,732...53,910,454
JBrowse link
G TCN1 transcobalamin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr21:50,356,333...50,369,215
Ensembl chr21:50,356,340...50,369,181
JBrowse link
G TKFC triokinase and FMN cyclase ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,051,068...55,064,571
Ensembl chr18:55,051,097...55,064,526
JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,079,367...52,083,762
Ensembl chr18:52,079,425...52,085,390
JBrowse link
G TMEM109 transmembrane protein 109 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,377,331...55,389,810
Ensembl chr18:55,363,698...55,385,587
JBrowse link
G TMEM132A transmembrane protein 132A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,363,713...55,376,227
Ensembl chr18:55,363,698...55,385,587
JBrowse link
G TMEM138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,033,586...55,040,001
Ensembl chr18:55,033,589...55,039,325
JBrowse link
G TMEM179B transmembrane protein 179B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,896,518...53,898,716
Ensembl chr18:53,896,518...53,898,659
JBrowse link
G TMEM216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,988,893...55,018,601 JBrowse link
G TMEM223 transmembrane protein 223 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,895,311...53,896,431
Ensembl chr18:53,895,349...53,896,283
JBrowse link
G TMEM258 transmembrane protein 258 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,685,992...54,689,566 JBrowse link
G TRMT112 tRNA methyltransferase activator subunit 11-2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,754,379...52,755,596
Ensembl chr18:52,754,721...52,755,730
JBrowse link
G TRPT1 tRNA phosphotransferase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,830,701...52,834,011
Ensembl chr18:52,831,405...52,833,998
JBrowse link
G TTC9C tetratricopeptide repeat domain 9C ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,928,236...53,941,410
Ensembl chr18:53,932,696...53,940,930
JBrowse link
G TUT1 terminal uridylyl transferase 1, U6 snRNA-specific ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:54,048,519...54,061,431
Ensembl chr18:54,048,563...54,061,415
JBrowse link
G UBXN1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,977,937...53,982,108
Ensembl chr18:53,978,062...53,982,111
JBrowse link
G UQCC3 ubiquinol-cytochrome c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,984,203...53,985,496
Ensembl chr18:53,984,771...53,985,422
JBrowse link
G VEGFB vascular endothelial growth factor B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,821,348...52,824,649
Ensembl chr18:52,821,365...52,824,655
JBrowse link
G VPS37C VPS37C subunit of ESCRT-I ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,204,918...55,212,902
Ensembl chr18:55,205,469...55,212,505
JBrowse link
G VPS51 VPS51 subunit of GARP complex ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,083,896...52,106,129
Ensembl chr18:52,083,884...52,106,046
JBrowse link
G VWCE von Willebrand factor C and EGF domains ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,099,193...55,125,412
Ensembl chr18:55,102,452...55,126,040
JBrowse link
G WDR74 WD repeat domain 74 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,855,207...53,861,700
Ensembl chr18:53,855,282...53,861,698
JBrowse link
G ZBTB3 zinc finger and BTB domain containing 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,924,158...53,926,505
Ensembl chr18:53,924,687...53,926,228
JBrowse link
G ZFPL1 zinc finger protein like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,110,956...52,114,993
Ensembl chr18:52,110,962...52,114,480
JBrowse link
G ZFTA zinc finger translocation associated ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:53,233,537...53,236,899
Ensembl chr18:53,196,955...53,236,479
JBrowse link
G ZNHIT2 zinc finger HIT-type containing 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:52,077,925...52,079,227
Ensembl chr18:52,077,991...52,079,184
JBrowse link
G ZP1 zona pellucida glycoprotein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr18:55,405,991...55,416,033 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:24767876 PMID:28492532 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422
JBrowse link
G ARHGEF40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,161,418...18,178,325
Ensembl chr15:18,160,835...18,179,029
JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,430,601...18,492,564
Ensembl chr15:18,431,019...18,491,920
JBrowse link
G EDDM3B epididymal protein 3B ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,017,182...18,020,521 JBrowse link
G LOC106559796 uncharacterized LOC106559796 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,024,375...18,025,871 JBrowse link
G LOC475395 ribonuclease pancreatic-like ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,034,337...18,065,925
Ensembl chr15:18,037,298...18,066,333
JBrowse link
G LOC475399 heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,239,810...18,299,065 JBrowse link
G METTL17 methyltransferase like 17 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,094,731...18,099,161 JBrowse link
G METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,528,755...18,546,303
Ensembl chr15:18,528,772...18,546,531
JBrowse link
G NDRG2 NDRG family member 2 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,106,651...18,115,026
Ensembl chr15:18,106,654...18,113,970
JBrowse link
G OR6S1 olfactory receptor family 6 subfamily S member 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:17,933,904...17,935,530
Ensembl chr15:17,934,181...17,935,176
JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:17,780,474...17,786,452
Ensembl chr15:17,780,476...17,811,173
JBrowse link
G PIP4P1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:17,789,511...17,793,226 JBrowse link
G PNP purine nucleoside phosphorylase ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency OMIM
ClinVar
PMID:1384322 PMID:1560016 PMID:3029074 PMID:8931706 PMID:9067751 More... NCBI chr15:17,808,454...17,815,987
Ensembl chr15:17,808,461...17,815,676
JBrowse link
G RAB2B RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,494,417...18,512,144
Ensembl chr15:18,495,891...18,512,030
JBrowse link
G RNASE10 ribonuclease A family member 10 (inactive) ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:17,845,687...17,908,672
Ensembl chr15:17,840,091...17,844,406
Ensembl chr15:17,840,091...17,844,406
JBrowse link
G RNASE12 ribonuclease A family member 12 (inactive) ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:17,903,824...17,906,219
Ensembl chr15:17,903,983...17,906,201
JBrowse link
G RNASE13 ribonuclease A family member 13 (inactive) ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,122,227...18,123,978
Ensembl chr15:18,122,946...18,123,719
JBrowse link
G RNASE4 ribonuclease, RNase A family, 4 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:17,981,661...17,998,644
Ensembl chr15:17,981,647...18,004,631
JBrowse link
G RNASE9 ribonuclease A family member 9 (inactive) ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:17,875,825...17,878,702 JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,316,887...18,388,724
Ensembl chr15:18,316,887...18,387,735
JBrowse link
G SALL2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,558,181...18,571,941
Ensembl chr15:18,558,178...18,561,547
JBrowse link
G SLC39A2 solute carrier family 39 member 2 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,099,310...18,102,884
Ensembl chr15:18,100,785...18,102,896
JBrowse link
G SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,387,624...18,429,553
Ensembl chr15:18,388,512...18,429,553
JBrowse link
G TMEM253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,187,622...18,194,700
Ensembl chr15:18,187,616...18,193,427
JBrowse link
G TOX4 TOX high mobility group box family member 4 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,512,270...18,528,293
Ensembl chr15:18,512,327...18,528,516
JBrowse link
G TPPP2 tubulin polymerization promoting protein family member 2 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,118,516...18,126,661
Ensembl chr15:18,119,594...18,126,663
JBrowse link
G ZNF219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:24767876 PMID:28492532 NCBI chr15:18,178,861...18,186,650
Ensembl chr15:18,180,901...18,192,773
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:24550228 PMID:28492532 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869
JBrowse link
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:28492532 NCBI chr  X:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980
JBrowse link
G LOC100684983 cytochrome c oxidase subunit 7B, mitochondrial ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:24550228 PMID:28492532 NCBI chr  X:60,192,698...60,197,547 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:60,122,021...60,186,457
Ensembl chr  X:60,128,571...60,186,507
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:60,374,743...60,396,244
Ensembl chr  X:60,374,754...60,423,947
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    syndrome 10014
      primary immunodeficiency disease 3731
        combined immunodeficiency 864
          combined T cell and B cell immunodeficiency 326
            CD40 ligand deficiency + 3
            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 5
            immunodeficiency 14 19
            immunodeficiency 15A 1
            immunodeficiency 16 70
            immunodeficiency 23 8
            immunodeficiency 36 1
            immunodeficiency 37 1
            immunodeficiency 40 10
            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 + 167
            purine nucleoside phosphorylase deficiency 28
Path 2
Term Annotations click to browse term
  disease 17775
    Developmental Disease 17563
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17450
        genetic disease 17428
          monogenic disease 10075
            X-linked monogenic disease 1332
              combined T cell and B cell immunodeficiency 326
                CD40 ligand deficiency + 3
                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 5
                immunodeficiency 14 19
                immunodeficiency 15A 1
                immunodeficiency 16 70
                immunodeficiency 23 8
                immunodeficiency 36 1
                immunodeficiency 37 1
                immunodeficiency 40 10
                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 + 167
                purine nucleoside phosphorylase deficiency 28
paths to the root