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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 Immunodeficiency Syndrome;   X-Linked Combined Immunodeficiencies;   X-Linked Combined Immunodeficiency Diseases;   X-Linked Immunodeficiency Diseases;   X-linked combined immunodeficiency;   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 Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:23990694, PMID:24033266, PMID:25627829 NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
JBrowse link
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar Annotator: match by term: Congenital combined immunodeficiency
ClinVar PMID:25741868, PMID:32499645 NCBI chr12:11,252,300...11,265,849
Ensembl chr12:11,252,296...11,265,865
JBrowse link
G Bcl11b BAF chromatin remodeling complex subunit BCL11B ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25627829, PMID:27959755 NCBI chr 6:131,834,097...131,927,251
Ensembl chr 6:131,834,097...131,926,272
JBrowse link
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Combined T and B cell immunodeficiency
ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar PMID:25741868, PMID:28112205 NCBI chr19:37,652,383...37,665,333
Ensembl chr19:37,652,969...37,668,019
JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar Annotator: match by term: Congenital combined immunodeficiency
ClinVar PMID:25741868, PMID:25843314, PMID:28492532 NCBI chr 4:157,744,881...157,751,609
Ensembl chr 4:157,744,882...157,750,088
JBrowse link
G Cd40lg CD40 ligand ISO DNA:polymorphism: :p.G219R (human) RGD PMID:21543760 RGD:5490593 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO
IMP
ClinVar Annotator: match by term: Combined immunodeficiency, X-linked OMIM
ClinVar
PMID:2169613, PMID:7632950, PMID:7668284, PMID:7883965, PMID:7973658, PMID:8088810, PMID:8961626, PMID:9049783, PMID:9058718, PMID:9399950, PMID:9633906, PMID:10792291, PMID:10794430, PMID:11129345, PMID:12126929, PMID:14966353, PMID:18641513, PMID:21184155, PMID:22039266, PMID:23683512, PMID:24534054, PMID:25443657, PMID:25741868, PMID:25869287, PMID:26525228, PMID:27095930, PMID:28492532, PMID:28747913, PMID:20111598 RGD:2316325 NCBI chr  X:71,165,378...71,169,078
Ensembl chr  X:71,162,585...71,169,865
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 Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:23990694, PMID:24033266, PMID:25627829 NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Congenital combined immunodeficiency ClinVar PMID:7581410, PMID:10521296, PMID:11186938, PMID:11447480, PMID:15358028, PMID:16858239, PMID:17125710, PMID:18029407, PMID:19880069, PMID:20031618, PMID:22857948, PMID:23233322, PMID:23283745, PMID:24033266, PMID:24093860, PMID:24111713, PMID:24793961, PMID:25031304, PMID:25351510, PMID:25637381, PMID:25741868, PMID:26743238, PMID:26969327, PMID:27247418, PMID:27532257, PMID:27737317, PMID:27831900, PMID:28138913, PMID:28420666, PMID:28492532, PMID:28615295, PMID:28790153 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:26642240 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
JBrowse link
G Zap70 zeta chain of T cell receptor associated protein kinase 70 ISO ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25627829, PMID:25741868, PMID:26783323 NCBI chr 9:43,331,149...43,353,097
Ensembl chr 9:43,331,155...43,353,113
JBrowse link
CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand disease_progression ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:308230
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)
ClinVar
RGD
CTD
OMIM
PMID:1385114, PMID:1427881, PMID:7586644, PMID:7678782, PMID:7679206, PMID:7679801, PMID:7906987, PMID:7916370, PMID:8094231, PMID:8550833, PMID:8589998, PMID:8889581, PMID:9746782, PMID:10366125, PMID:10484640, PMID:10559240, PMID:10651941, PMID:11158612, PMID:14641931, PMID:15358621, PMID:15611226, PMID:15623492, PMID:15924140, PMID:16019685, PMID:16169277, PMID:16509032, PMID:17146684, PMID:17351759, PMID:18805740, PMID:18955577, PMID:19575287, PMID:20301576, PMID:20591076, PMID:20625427, PMID:20652909, PMID:20981468, PMID:21543760, PMID:21841160, PMID:22750225, PMID:22928961, PMID:22963373, PMID:23622016, PMID:24402618, PMID:25541662, PMID:25741868, PMID:27324886, PMID:28492532, PMID:29077208, PMID:21841160, PMID:17553565, PMID:15358621, PMID:16508335 RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
DNA ligase IV deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Lig4 syndrome
ClinVar Annotator: match by term: LIG4-Related Disorders
DNA:missense mutation: :p.R278H (mouse)
DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human)
ClinVar Annotator: match by OMIM:606593
DNA:missense mutation: :p.Y288C (mouse)
OMIM
ClinVar
PMID:10395545, PMID:11349135, PMID:11779494, PMID:12471202, PMID:15333585, PMID:16088910, PMID:16357942, PMID:16358361, PMID:16358631, PMID:16585603, PMID:17345618, PMID:18845326, PMID:23337116, PMID:23372718, PMID:24027040, PMID:24033266, PMID:24123394, PMID:24759409, PMID:24892279, PMID:25239263, PMID:25741868, PMID:26151233, PMID:26172957, PMID:26762768, PMID:27063650, PMID:27612988, PMID:27855655, PMID:27893162, PMID:28039949, PMID:28492532, PMID:28866308, PMID:29146883, PMID:30617623, PMID:30719430, PMID:20133615, PMID:27063650, PMID:19451691 RGD:13204717, RGD:13204707, RGD:8694074 NCBI chr16:85,331,771...85,339,496
Ensembl chr16:85,331,866...85,337,769
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar PMID:25741868 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by OMIM:300291
ClinVar Annotator: match by synonym: EDA-ID
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency
DNA:mutation:splicing site:
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
OMIM
ClinVar
PMID:117248, PMID:8169255, PMID:11047757, PMID:11179023, PMID:11224521, PMID:11242109, PMID:11484156, PMID:11590134, PMID:12045264, PMID:14726382, PMID:15100680, PMID:15833888, PMID:16228229, PMID:16333836, PMID:16379012, PMID:16532398, PMID:16818673, PMID:16950813, PMID:17072331, PMID:17910706, PMID:18851874, PMID:19903677, PMID:21622647, PMID:24682681, PMID:25741868, PMID:26117626, PMID:29077208, PMID:16333836 RGD:12791265 NCBI chr  X:156,254,187...156,280,046
Ensembl chr  X:156,257,173...156,270,748
JBrowse link
immunodeficiency 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenps centromere protein S ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:165,946,106...165,955,723 JBrowse link
G Clstn1 calsyntenin 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:166,533,262...166,601,686
Ensembl chr 5:166,533,181...166,601,684
JBrowse link
G Cort cortistatin ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:165,942,780...165,944,221 JBrowse link
G Ctnnbip1 catenin, beta-interacting protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:166,464,170...166,513,030
Ensembl chr 5:166,464,252...166,513,027
JBrowse link
G Dffa DNA fragmentation factor subunit alpha ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:165,922,893...165,935,822
Ensembl chr 5:165,922,915...165,935,821
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:166,430,305...166,443,485
Ensembl chr 5:166,430,400...166,442,284
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
JBrowse link
G Pex14 peroxisomal biogenesis factor 14 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
JBrowse link
G Pgd phosphogluconate dehydrogenase ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:165,966,128...165,982,327 JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta ISO ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar Annotator: match by OMIM:615513
OMIM
ClinVar
PMID:16984281, PMID:24136356, PMID:24165795, PMID:24610295, PMID:25352054, PMID:25741868, PMID:26437962, PMID:26732860, PMID:27426521, PMID:27697496, PMID:28167755, PMID:28492532, PMID:29921932, PMID:30499059 NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
JBrowse link
G Rbp7 retinol binding protein 7 ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:166,278,214...166,282,832
Ensembl chr 5:166,278,187...166,282,831
JBrowse link
G Ube4b ubiquitination factor E4B ISO ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar PMID:28492532 NCBI chr 5:166,156,033...166,259,069
Ensembl chr 5:166,156,033...166,259,069
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:25741868, PMID:30337470 NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
JBrowse link
immunodeficiency 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Immunodeficiency 16 OMIM
ClinVar
PMID:23897980, PMID:28492532 NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
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, PMID:28492532 NCBI chr 8:94,122,733...94,225,131
Ensembl chr 8:94,122,728...94,225,031
JBrowse link
G Me1 malic enzyme 1 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:94,256,830...94,368,834
Ensembl chr 8:94,256,839...94,368,834
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar Annotator: match by OMIM:615816
OMIM
ClinVar
PMID:1245758, PMID:3500672, PMID:14981714, PMID:17548465, PMID:24033266, PMID:24589341, PMID:24698316, PMID:24931394, PMID:25741868, PMID:26482871, PMID:28492532 NCBI chr 8:94,225,513...94,243,230
Ensembl chr 8:94,225,515...94,243,215
JBrowse link
G Prss35 serine protease 35 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:94,423,629...94,440,509
Ensembl chr 8:94,423,808...94,440,503
JBrowse link
G Rwdd2a RWD domain containing 2A ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:94,243,318...94,246,496
Ensembl chr 8:94,243,372...94,246,496
JBrowse link
G Snap91 synaptosome associated protein 91 ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:94,447,558...94,564,772
Ensembl chr 8:94,447,550...94,564,525
JBrowse link
G Tpbg trophoblast glycoprotein ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:93,491,761...93,495,132
Ensembl chr 8:93,491,761...93,495,130
JBrowse link
G Ube3d ubiquitin protein ligase E3D ISO ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar PMID:24931394 NCBI chr 8:93,948,689...94,120,477
Ensembl chr 8:93,948,767...94,120,458
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:819054, PMID:7705412, PMID:22351933, PMID:23810378, PMID:23810379, PMID:23810382, PMID:25133428, PMID:25488983, PMID:25741868, PMID:25939554, PMID:26497935, PMID:26529633, PMID:27076228, PMID:27116393, PMID:27221134, PMID:27693481, PMID:28302518, PMID:28492532 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
immunodeficiency 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: Immunodeficiency 37 ClinVar
OMIM
PMID:25365219, PMID:28492532 NCBI chr 2:251,805,392...251,814,957
Ensembl chr 2:251,805,392...251,814,957
JBrowse link
immunodeficiency 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock2 dedicator of cytokinesis 2 ISO ClinVar Annotator: match by term: Immunodeficiency 40 ClinVar
OMIM
PMID:26083206, PMID:28492532, PMID:29204803 NCBI chr10:19,181,512...19,603,171 JBrowse link
immunodeficiency 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfrc transferrin receptor ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 46
ClinVar Annotator: match by term: Immunodeficiency 46
ClinVar
OMIM
PMID:25741868, PMID:26642240 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
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
OMIM
PMID:26385063 NCBI chr 1:80,517,081...80,545,019
Ensembl chr 1:80,517,411...80,544,825
JBrowse link
immunodeficiency 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il21r interleukin 21 receptor ISO ClinVar Annotator: match by term: IL21R immunodeficiency
ClinVar Annotator: match by OMIM:615207
OMIM
ClinVar
PMID:11006530, PMID:11081504, PMID:12446913, PMID:12700598, PMID:15630141, PMID:17953510, PMID:19075398, PMID:19443735, PMID:22235133, PMID:23440042, PMID:24033266, PMID:25398835, PMID:26193622, PMID:28492532 NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
JBrowse link
immunodeficiency 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Carmil2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 58
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency
ClinVar
OMIM
PMID:25741868, PMID:27647349, PMID:27896283, PMID:28112205, PMID:29479355 NCBI chr19:37,652,383...37,665,333
Ensembl chr19:37,652,969...37,668,019
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:28530713 NCBI chr 5:47,458,891...47,807,176
Ensembl chr 5:47,546,014...47,807,166
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 chr13:68,702,970...68,722,472
Ensembl chr13:68,702,820...68,722,472
JBrowse link
immunodeficiency with hyper IgM type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3
ClinVar
OMIM
PMID:11675497, PMID:12584544, PMID:12593727, PMID:14611700, PMID:15272925, PMID:15307939, PMID:15731360, PMID:17344890, PMID:17949264, PMID:18446002, PMID:20702779, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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 ClinVar Annotator: match by term: Leukocyte adhesion deficiency
CTD Direct Evidence: marker/mechanism
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
CTD
PMID:1346613, PMID:1347532, PMID:1590804, PMID:1694220, PMID:1968911, PMID:6142255, PMID:6237120, PMID:7143170, PMID:7686755, PMID:7705401, PMID:9653089, PMID:9884339, PMID:10712675, PMID:11703376, PMID:12488604, PMID:17875809, PMID:22134107, PMID:25514840, PMID:25703682, PMID:25741868, PMID:26639818, PMID:28492532, PMID:1968911, PMID:10886250, PMID:21103413, PMID:20549317, PMID:14512306 RGD:1600220, RGD:6482222, RGD:6482223, RGD:6482224, RGD:6482225 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
leukocyte adhesion deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt3 fermitin family member 3 ISO DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) RGD PMID:19064721 RGD:11352306 NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1
ClinVar Annotator: match by term: Leukocyte adhesion deficiency type 1
ClinVar Annotator: match by OMIM:116920
OMIM
ClinVar
PMID:1346613, PMID:1590804, PMID:1968911, PMID:7143170, PMID:7686755, PMID:7705401, PMID:9884339, PMID:11703376, PMID:11882363, PMID:12377933, PMID:12488604, PMID:16595236, PMID:17875809, PMID:18675632, PMID:19171538, PMID:20549317, PMID:20807363, PMID:21103413, PMID:22134107, PMID:24033266, PMID:25135596, PMID:25514840, PMID:25703682, PMID:25741868, PMID:25858935, PMID:26639818, PMID:28492532, PMID:30412664 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
leukocyte adhesion deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt3 fermitin family member 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency, type III
DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human)
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612840
OMIM
ClinVar
PMID:12511588, PMID:18779414, PMID:19064721, PMID:19234460, PMID:19234463, PMID:20357244, PMID:21441448, PMID:22134107, PMID:22564402, PMID:25741868, PMID:28492532, PMID:19234463 RGD:11352305 NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
JBrowse link
G Rasgrp2 RAS guanyl releasing protein 2 ISS OMIM:612840 MouseDO NCBI chr 1:221,771,238...221,788,765
Ensembl chr 1:221,773,254...221,788,765
JBrowse link
purine nucleoside phosphorylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnp purine nucleoside phosphorylase ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613179
OMIM
ClinVar
CTD
PMID:1384322, PMID:1560016, PMID:3029074, PMID:8931706, PMID:9067751, PMID:9403342, PMID:9737781, PMID:11453975, PMID:12483996, PMID:15571269, PMID:17407325, PMID:19759001, PMID:22132981, PMID:24033266, PMID:24767876, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350
JBrowse link
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia ClinVar PMID:28492532 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia ClinVar PMID:28492532 NCBI chr  X:77,065,427...77,071,676
Ensembl chr  X:77,065,397...77,071,676
JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
ClinVar Annotator: match by OMIM:300853
OMIM
ClinVar
PMID:21796205, PMID:24550228, PMID:25135935, PMID:25504528, PMID:25741868, PMID:25956530, PMID:28492532, PMID:31036665 NCBI chr  X:77,023,423...77,061,603
Ensembl chr  X:77,020,402...77,061,667
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      primary immunodeficiency disease 2346
        combined immunodeficiency 149
          combined T cell and B cell immunodeficiency 57
            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 3
            immunodeficiency 14 13
            immunodeficiency 15A 1
            immunodeficiency 16 1
            immunodeficiency 23 8
            immunodeficiency 36 1
            immunodeficiency 37 1
            immunodeficiency 40 1
            immunodeficiency 46 1
            immunodeficiency 53 1
            immunodeficiency 56 1
            immunodeficiency 58 1
            immunodeficiency 60 1
            immunodeficiency 70 1
            immunodeficiency with hyper IgM type 3 1
            leukocyte adhesion deficiency + 3
            purine nucleoside phosphorylase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            X-linked monogenic disease 920
              combined T cell and B cell immunodeficiency 57
                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 3
                immunodeficiency 14 13
                immunodeficiency 15A 1
                immunodeficiency 16 1
                immunodeficiency 23 8
                immunodeficiency 36 1
                immunodeficiency 37 1
                immunodeficiency 40 1
                immunodeficiency 46 1
                immunodeficiency 53 1
                immunodeficiency 56 1
                immunodeficiency 58 1
                immunodeficiency 60 1
                immunodeficiency 70 1
                immunodeficiency with hyper IgM type 3 1
                leukocyte adhesion deficiency + 3
                purine nucleoside phosphorylase deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.