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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:dysgammaglobulinemia
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Accession:DOID:11702 term browser browse the term
Definition:A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. (DO)
Synonyms:exact_synonym: dysgammaglobulinemias
 primary_id: MESH:D004406
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
dysgammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand ISO Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230 RGD PMID:7678782 RGD:1599480 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403 		JBrowse link
G Ung uracil DNA glycosylase ISO Hyper-IgM syndrome 5, OMIM:608106 RGD PMID:12958596 RGD:1599705 NCBI chrNW_004936769:911,296...922,770
Ensembl chrNW_004936769:910,838...922,726 		JBrowse link
CD40 ligand deficiency 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, X-linked, with hyper-IgM ClinVar PMID:25741868 NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280 		JBrowse link
G Cd40lg CD40 ligand disease_progression ISO ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome OMIM
ClinVar
RGD		 PMID:21841160 PMID:25741868 PMID:28492532 RGD:5490298 NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403 		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 chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia OMIM
ClinVar		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813 		JBrowse link
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cavin1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004936490:17,197,585...17,200,041 JBrowse link
G Il4r interleukin 4 receptor no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chrNW_004936501:11,025,590...11,058,807
Ensembl chrNW_004936501:11,025,567...11,058,818 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:25741868 PMID:32207811 NCBI chrNW_004936480:11,867,573...11,913,563
Ensembl chrNW_004936480:11,884,582...11,909,635 		JBrowse link
G LOC101954516 signal transducer and activator of transcription 5B ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004936490:17,022,268...17,043,751
Ensembl chrNW_004936490:17,021,051...17,043,941 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: Job syndrome OMIM
ClinVar		 PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 More... NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402 		JBrowse link
hyper IgE recurrent infection syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 More... NCBI chrNW_004936594:4,075,105...4,124,850
Ensembl chrNW_004936594:4,089,214...4,124,153 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS OMIM
ClinVar		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chrNW_004936503:4,362,573...4,575,307
Ensembl chrNW_004936503:4,363,926...4,574,932 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:28492532 NCBI chrNW_004936503:4,125,302...4,255,880
Ensembl chrNW_004936503:4,122,204...4,246,680 		JBrowse link
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:33290277 NCBI chrNW_004936503:4,608,382...4,650,822 JBrowse link
hyper IgE recurrent infection syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf341 zinc finger protein 341 ISO ClinVar Annotator: match by term: HYPER-IgE SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691 NCBI chrNW_004936561:6,816,349...6,851,609
Ensembl chrNW_004936561:6,816,328...6,851,452 		JBrowse link
hyper IgE recurrent infection syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28747427 More... NCBI chrNW_004936480:11,867,573...11,913,563
Ensembl chrNW_004936480:11,884,582...11,909,635 		JBrowse link
hyper IgE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:21131974 PMID:22693285 PMID:23255504 PMID:23891469 PMID:25741868 More... NCBI chrNW_004936594:4,075,105...4,124,850
Ensembl chrNW_004936594:4,089,214...4,124,153 		JBrowse link
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome ClinVar PMID:28492532 NCBI chrNW_004936503:3,944,941...4,049,132
Ensembl chrNW_004936503:3,944,933...4,049,132 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: HIES autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chrNW_004936503:4,362,573...4,575,307
Ensembl chrNW_004936503:4,363,926...4,574,932 		JBrowse link
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chrNW_004936510:7,609,941...7,715,013
Ensembl chrNW_004936510:7,607,841...7,715,050 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:28492532 NCBI chrNW_004936503:4,125,302...4,255,880
Ensembl chrNW_004936503:4,122,204...4,246,680 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chrNW_004936510:7,586,817...7,622,586
Ensembl chrNW_004936510:7,586,837...7,609,267 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 More... NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402 		JBrowse link
G Zng1a Zn regulated GTPase metalloprotein activator 1A ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:33290277 NCBI chrNW_004936503:4,608,382...4,650,822 JBrowse link
hyper IgM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation induced cytidine deaminase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936870:25,039...34,601
Ensembl chrNW_004936870:25,039...34,601 		JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280 		JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936769:911,296...922,770
Ensembl chrNW_004936769:910,838...922,726 		JBrowse link
Hyper-IgE Recurrent Infection Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 5, autosomal recessive OMIM
ClinVar		 PMID:8467812 PMID:25741868 PMID:28492532 PMID:31235509 NCBI chrNW_004936580:4,055,438...4,081,876
Ensembl chrNW_004936580:4,057,771...4,081,885 		JBrowse link
Hyper-IgE Recurrent Infection Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat6 signal transducer and activator of transcription 6 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections OMIM
ClinVar		 PMID:36884218 PMID:37316763 NCBI chrNW_004936646:1,297,530...1,312,508
Ensembl chrNW_004936646:1,296,290...1,312,157 		JBrowse link
hyperimmunoglobulin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation induced cytidine deaminase susceptibility
onset		 ISO DNA:splice-site mutation:intron:IVS2+1G>T (human)
DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human)
DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)		 RGD PMID:11007475 PMID:11112359 PMID:15372234 PMID:17553565 RGD:11039457 RGD:11039483 RGD:11039485 RGD:1598906 NCBI chrNW_004936870:25,039...34,601
Ensembl chrNW_004936870:25,039...34,601 		JBrowse link
G Cd40 CD40 molecule ISO DNA:mutations:exons (human) RGD PMID:11675497 RGD:1599479 NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280 		JBrowse link
hyperimmunoglobulinemia D periodic fever syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936769:1,261,553...1,274,353
Ensembl chrNW_004936769:1,259,703...1,274,396 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Hyperimmunoglobulinemia D | ClinVar Annotator: match by term: Periodic fever Dutch type OMIM
ClinVar		 PMID:8386351 PMID:9334262 PMID:9536098 PMID:10369261 PMID:10369262 More... NCBI chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178 		JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1m2 adaptor related protein complex 1 subunit mu 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004936659:844,563...854,556
Ensembl chrNW_004936659:844,553...854,655 		JBrowse link
G Atg4d autophagy related 4D cysteine peptidase ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004936659:823,318...830,642
Ensembl chrNW_004936659:823,172...830,521 		JBrowse link
G Cdc37 cell division cycle 37, HSP90 cochaperone ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004936659:711,165...721,207
Ensembl chrNW_004936659:711,117...721,260 		JBrowse link
G Cdkn2d cyclin dependent kinase inhibitor 2D ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004936659:840,602...843,078 JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004936659:957,408...1,046,393
Ensembl chrNW_004936659:957,392...1,049,188 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174 		JBrowse link
G Icam3 intercellular adhesion molecule 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004936659:667,503...673,969 JBrowse link
G Icam4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004936659:627,560...628,644
Ensembl chrNW_004936659:627,560...628,644 		JBrowse link
G Icam5 intercellular adhesion molecule 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004936659:630,177...636,586
Ensembl chrNW_004936659:630,235...636,425 		JBrowse link
G Ilf3 interleukin enhancer binding factor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004936659:903,690...940,024
Ensembl chrNW_004936659:918,074...940,121 		JBrowse link
G Keap1 kelch like ECH associated protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004936659:785,059...793,775
Ensembl chrNW_004936659:782,340...793,688 		JBrowse link
G Kri1 KRI1 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004936659:830,299...840,146
Ensembl chrNW_004936659:830,885...840,134 		JBrowse link
G LOC101962614 ferredoxin-2, mitochondrial ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004936659:640,243...650,350
Ensembl chrNW_004936659:645,191...650,246
Ensembl chrNW_004936659:645,191...650,246 		JBrowse link
G Mrpl4 mitochondrial ribosomal protein L4 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004936659:604,310...607,664
Ensembl chrNW_004936659:604,117...607,666 		JBrowse link
G Pde4a phosphodiesterase 4A ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004936659:742,969...770,473
Ensembl chrNW_004936659:732,893...768,620 		JBrowse link
G Qtrt1 queuine tRNA-ribosyltransferase catalytic subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004936659:946,338...953,952
Ensembl chrNW_004936659:946,142...956,442 		JBrowse link
G Raver1 ribonucleoprotein, PTB binding 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004936659:650,463...667,379
Ensembl chrNW_004936659:650,473...667,382 		JBrowse link
G S1pr2 sphingosine-1-phosphate receptor 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chrNW_004936659:579,771...587,077
Ensembl chrNW_004936659:579,867...586,885 		JBrowse link
G S1pr5 sphingosine-1-phosphate receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004936659:798,259...801,563
Ensembl chrNW_004936659:798,707...799,903 		JBrowse link
G Slc44a2 solute carrier family 44 member 2 (CTL2 blood group) ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chrNW_004936659:863,612...895,456
Ensembl chrNW_004936659:882,221...895,444 		JBrowse link
G Tyk2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY OMIM
ClinVar		 PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 More... NCBI chrNW_004936659:681,463...704,484
Ensembl chrNW_004936659:681,310...702,962 		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 chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280 		JBrowse link
immunodeficiency with hyper IgM type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acacb acetyl-CoA carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chrNW_004936769:950,970...1,053,671
Ensembl chrNW_004936769:950,845...1,051,887 		JBrowse link
G Ung uracil DNA glycosylase ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5 OMIM
ClinVar		 PMID:9536098 PMID:12958596 PMID:15967827 PMID:16199547 PMID:17029639 More... NCBI chrNW_004936769:911,296...922,770
Ensembl chrNW_004936769:910,838...922,726 		JBrowse link
immunodeficiency with hyper-IgM type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 OMIM
ClinVar		 PMID:9536098 PMID:11007475 PMID:11112359 PMID:12715918 PMID:12910268 More... NCBI chrNW_004936870:25,039...34,601
Ensembl chrNW_004936870:25,039...34,601 		JBrowse link
G Clec4d C-type lectin domain family 4 member D ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chrNW_004936858:303,639...312,092
Ensembl chrNW_004936858:303,639...312,083 		JBrowse link
G Clec4e C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chrNW_004936858:316,954...321,668
Ensembl chrNW_004936858:316,954...321,668 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 2 ClinVar PMID:16007086 PMID:16007087 PMID:17392798 PMID:18981294 PMID:21547394 More... NCBI chrNW_004936741:626,814...637,317 JBrowse link
Immunoglobulin A Deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: IgA, selective deficiency of, TACI related | ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 OMIM
ClinVar		 PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chrNW_004936741:626,814...637,317 JBrowse link
immunoglobulin alpha deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27723758 NCBI chrNW_004936560:2,881,631...3,057,256
Ensembl chrNW_004936560:2,881,977...3,038,725 		JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694011 PMID:27723758 NCBI chrNW_004936530:9,089,478...9,264,563
Ensembl chrNW_004936530:9,089,476...9,264,592 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNPs,haplotype: :rs231770,rs16840252,rs231775(human) RGD PMID:19020530 RGD:11344917 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Icos inducible T cell costimulator susceptibility ISO DNA:SNPs,haplotype: :rs4521021,rs10172036(human) RGD PMID:19020530 RGD:11344917 NCBI chrNW_004936631:562,650...572,263
Ensembl chrNW_004936631:551,394...570,804 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694011 PMID:27723758 NCBI chrNW_004936469:16,721,306...16,778,249
Ensembl chrNW_004936469:16,721,677...16,774,903 		JBrowse link
selective IgA deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: IgAD1 ClinVar PMID:17697196 PMID:18200502 PMID:18981294 PMID:21419480 PMID:21458042 More... NCBI chrNW_004936741:626,814...637,317 JBrowse link
selective IgG deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO mRNA:decreased expression:peripheral blood leukocyte: RGD PMID:9042436 RGD:10755693 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
X-linked hyper IgM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,837,036...10,934,833
Ensembl chrNW_004936513:10,845,610...10,947,288 		JBrowse link
G Aicda activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936870:25,039...34,601
Ensembl chrNW_004936870:25,039...34,601 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,488,525...10,598,366
Ensembl chrNW_004936513:10,488,532...10,598,493 		JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,784,181...10,788,679
Ensembl chrNW_004936513:10,784,181...10,788,680 		JBrowse link
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280 		JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... NCBI chrNW_004936513:10,607,617...10,620,403
Ensembl chrNW_004936513:10,607,617...10,620,403 		JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:11,025,753...11,064,312
Ensembl chrNW_004936513:11,025,715...11,064,312 		JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,282,683...10,284,206
Ensembl chrNW_004936513:10,282,683...10,284,206 		JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,762,417...10,779,641
Ensembl chrNW_004936513:10,762,398...10,779,374 		JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,989,123...11,021,086 JBrowse link
G Rbmx RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,429,862...10,442,509
Ensembl chrNW_004936513:10,429,824...10,437,108 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:11,158,609...11,215,477
Ensembl chrNW_004936513:11,158,730...11,215,568 		JBrowse link
G Ung uracil DNA glycosylase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chrNW_004936769:911,296...922,770
Ensembl chrNW_004936769:910,838...922,726 		JBrowse link
G Vgll1 vestigial like family member 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:10,704,343...10,742,583
Ensembl chrNW_004936513:10,721,500...10,742,670 		JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chrNW_004936513:9,780,895...9,792,865
Ensembl chrNW_004936513:9,786,709...9,793,077 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    disease of anatomical entity 14320
      hematopoietic system disease 3448
        blood protein disease 639
          dysgammaglobulinemia 66
            Epilepsy Telangiectasia 0
            hyperimmunoglobulin syndrome + 61
            immunoglobulin alpha deficiency + 6
            selective IgA deficiency disease 1
            selective IgE deficiency disease 0
            selective IgG deficiency disease + 1
            selective IgM deficiency disease 0
Path 2
Term Annotations click to browse term
  disease 14615
    disease of anatomical entity 14320
      Immune & Inflammatory Diseases 4905
        immune system disease 4361
          primary immunodeficiency disease 3804
            B cell deficiency 414
              selective immunoglobulin deficiency disease 66
                dysgammaglobulinemia 66
                  Epilepsy Telangiectasia 0
                  hyperimmunoglobulin syndrome + 61
                  immunoglobulin alpha deficiency + 6
                  selective IgA deficiency disease 1
                  selective IgE deficiency disease 0
                  selective IgG deficiency disease + 1
                  selective IgM deficiency disease 0
paths to the root