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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 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:7557965 PMID:7632950 PMID:7668284 PMID:7883965 PMID:7973658 PMID:8088810 PMID:8961626 PMID:9049783 PMID:9058718 PMID:9399950 PMID:9633906 PMID:10792291 PMID:11129345 PMID:12126929 PMID:14966353 PMID:18641513 PMID:21184155 PMID:22039266 PMID:23683512 PMID:24534054 PMID:25042067 PMID:25741868 PMID:25869287 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 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:16358361 PMID:16358631 PMID:16585603 PMID:18845326 PMID:23337116 PMID:23372718 PMID:24027040 PMID:24033266 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 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:6407320 PMID:7705412 PMID:8574420 PMID:11135494 PMID:12514365 PMID:18384141 PMID:22351933 PMID:23810378 PMID:23810379 PMID:23810382 PMID:23980586 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26529633 PMID:26974159 PMID:27076228 PMID:27116393 PMID:27221134 PMID:27693481 PMID:27766312 PMID:28302518 PMID:28492532 PMID:28632845 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:25741868 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 Annotator: match by term: Immunodeficiency 53
ClinVar
OMIM
PMID:25741868 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:22235133 PMID:23440042 PMID:24033266 PMID:25398835 PMID:25741868 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:10886250 PMID:11703376 PMID:12488604 PMID:17875809 PMID:22134107 PMID:25514840 PMID:25703682 PMID:25741868 PMID:26639818 PMID:28492532 PMID:30412664, 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 FERM domain containing kindlin 3 ISO DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human) RGD PMID:19064721 RGD:11352306 NCBI chr 1:222,254,183...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:10886250 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 FERM domain containing kindlin 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency, type III
DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human)
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612840
OMIM
ClinVar
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 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 16123
    syndrome 7053
      primary immunodeficiency disease 2373
        combined immunodeficiency 148
          combined T cell and B cell immunodeficiency 55
            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 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            X-linked monogenic disease 1032
              combined T cell and B cell immunodeficiency 55
                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