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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:hyperimmunoglobulin syndrome
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Accession:DOID:2959 term browser browse the term
Definition:A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. (DO)
Synonyms:xref: NCI:C27579
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)
DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human)
DNA:splice-site mutation:intron:IVS2+1G>T (human)		 RGD PMID:11007475 PMID:11112359 PMID:15372234 PMID:17553565 RGD:11039457 RGD:11039483 RGD:11039485 RGD:1598906 NCBI chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		JBrowse link
G CD40 CD40 molecule ISO DNA:mutations:exons (human) RGD PMID:11675497 RGD:1599479 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		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 chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		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 chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		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:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		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 chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		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 chr12:20,372,476...20,390,250
Ensembl chr12:20,372,476...20,389,509 		JBrowse link
G IL4R interleukin 4 receptor no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544 		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 chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220 		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 chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		JBrowse link
G STAT5A signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr12:20,474,221...20,498,785
Ensembl chr12:20,474,227...20,499,138 		JBrowse link
G STAT5B 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 chr12:20,498,103...20,574,365
Ensembl chr12:20,508,404...20,574,266 		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 chr12:2,341,953...2,384,066
Ensembl chr12:2,341,957...2,384,025 		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 chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953 		JBrowse link
G DOCK8-AS1 DOCK8 antisense RNA 1 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 ClinVar PMID:14722525 PMID:19776401 PMID:20226292 PMID:20622910 PMID:23859592 More... NCBI chr 1:221,491,735...221,492,831 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 chr 1:221,015,042...221,218,875
Ensembl chr 1:221,015,046...221,078,245 		JBrowse link
G ZNG1 Zn regulated GTPase metalloprotein activator 1 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:33290277 NCBI chr 1:221,521,313...221,570,992 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 chr17:37,223,959...37,272,263
Ensembl chr17:37,224,048...37,280,118 		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 chr16:35,101,304...35,151,832
Ensembl chr16:35,101,306...35,192,220 		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 chr12:2,341,953...2,384,066
Ensembl chr12:2,341,957...2,384,025 		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 chr 1:220,841,485...220,953,442
Ensembl chr 1:220,841,488...220,953,442 		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 chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953 		JBrowse link
G DOCK8-AS1 DOCK8 antisense RNA 1 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:17576681 PMID:19776401 More... NCBI chr 1:221,491,735...221,492,831 JBrowse link
G DOP1A DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 1:83,029,817...83,137,441
Ensembl chr 1:83,026,514...83,137,426 		JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670 		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 chr 1:221,015,042...221,218,875
Ensembl chr 1:221,015,046...221,078,245 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 1:83,003,622...83,029,392
Ensembl chr 1:83,003,604...83,029,897 		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 chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992 		JBrowse link
G ZNG1 Zn regulated GTPase metalloprotein activator 1 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:33290277 NCBI chr 1:221,521,313...221,570,992 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 chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		JBrowse link
G CD40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		JBrowse link
G UNG uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:41,746,498...41,757,841
Ensembl chr14:41,746,502...41,757,807 		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 chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282 		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 chr 5:22,406,356...22,422,412
Ensembl chr 5:22,406,368...22,421,989 		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 chr14:41,357,587...41,371,374
Ensembl chr14:41,357,637...41,373,205 		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 chr14:41,320,790...41,357,437
Ensembl chr14:41,281,673...41,357,368 		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 chr 2:69,341,289...69,353,906
Ensembl chr 2:69,341,283...69,354,013 		JBrowse link
G ATG4D autophagy related 4D cysteine peptidase ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 2:69,320,313...69,328,522
Ensembl chr 2:69,320,331...69,328,519 		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 chr 2:69,202,695...69,212,909
Ensembl chr 2:69,201,579...69,225,994 		JBrowse link
G CDKN2D cyclin dependent kinase inhibitor 2D ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 2:69,337,428...69,339,998
Ensembl chr 2:69,337,432...69,339,933 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G ICAM3 intercellular adhesion molecule 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 2:69,143,063...69,150,221
Ensembl chr 2:69,143,062...69,150,225 		JBrowse link
G ICAM4 intercellular adhesion molecule 4 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 2:69,108,610...69,110,053
Ensembl chr 2:69,108,690...69,110,962 		JBrowse link
G ICAM5 intercellular adhesion molecule 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 2:69,111,223...69,118,170
Ensembl chr 2:69,111,309...69,118,164 		JBrowse link
G ILF3 interleukin enhancer binding factor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 2:69,413,875...69,443,216
Ensembl chr 2:69,413,982...69,443,214 		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 chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,294,382 		JBrowse link
G KRI1 KRI1 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 2:69,328,182...69,337,104
Ensembl chr 2:69,328,198...69,337,108 		JBrowse link
G MIR199A-2 microRNA mir-199a-2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 2:69,558,051...69,558,130
Ensembl chr 2:69,558,050...69,558,131 		JBrowse link
G MRPL4 mitochondrial ribosomal protein L4 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 2:69,063,679...69,082,692
Ensembl chr 2:69,063,674...69,082,688 		JBrowse link
G PDE4A phosphodiesterase 4A ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 2:69,225,403...69,268,327
Ensembl chr 2:69,225,708...69,266,702 		JBrowse link
G QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 2:69,450,792...69,471,487
Ensembl chr 2:69,450,808...69,471,487 		JBrowse link
G RAVER1 ribonucleoprotein, PTB binding 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 2:69,121,300...69,129,643
Ensembl chr 2:69,121,300...69,124,299
Ensembl chr 2:69,121,300...69,124,299
Ensembl chr 2:69,121,300...69,124,299 		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 chr 2:69,050,396...69,057,270
Ensembl chr 2:69,049,270...69,057,270 		JBrowse link
G S1PR5 sphingosine-1-phosphate receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 2:69,293,537...69,299,408
Ensembl chr 2:69,293,546...69,298,377 		JBrowse link
G SLC44A2 solute carrier family 44 member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 2:69,364,946...69,399,081
Ensembl chr 2:69,365,012...69,399,081 		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 chr 2:69,157,774...69,183,555
Ensembl chr 2:69,157,811...69,183,456 		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 chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		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 chr14:41,621,574...41,739,916
Ensembl chr14:41,621,574...41,739,916 		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 chr14:41,746,498...41,757,841
Ensembl chr14:41,746,502...41,757,807 		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 chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		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 chr 5:63,219,229...63,228,566 JBrowse link
G LOC110258710 C-type lectin domain family 4 member D-like ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532
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 chr12:61,245,976...61,270,154
Ensembl chr12:61,246,062...61,270,146 		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 chr  X:111,490,544...111,534,000 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 chr 5:62,777,236...62,787,342
Ensembl chr 5:62,777,352...62,787,369 		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 chr  X:111,796,485...111,917,195
Ensembl chr  X:111,796,485...111,917,174 		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 chr  X:111,615,695...111,620,124
Ensembl chr  X:111,615,564...111,620,124 		JBrowse link
G CD40 CD40 molecule ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528 		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 chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		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 chr  X:111,309,989...111,367,900
Ensembl chr  X:111,356,011...111,367,903 		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 chr  X:112,109,592...112,111,333
Ensembl chr  X:112,108,889...112,113,652 		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 chr  X:111,624,303...111,643,566
Ensembl chr  X:111,624,631...111,643,323 		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 chr  X:111,371,538...111,420,230 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 chr  X:111,965,859...111,974,544
Ensembl chr  X:111,962,633...111,974,472 		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 chr  X:111,176,461...111,233,108
Ensembl chr  X:111,176,495...111,233,099 		JBrowse link
G UNG uracil DNA glycosylase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr14:41,746,498...41,757,841
Ensembl chr14:41,746,502...41,757,807 		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 chr  X:111,662,565...111,684,676
Ensembl chr  X:111,662,621...111,683,504 		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 chr  X:112,592,951...112,605,087
Ensembl chr  X:112,593,301...112,604,814 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15394
    syndrome 10321
      primary immunodeficiency disease 3979
        B cell deficiency 422
          hyperimmunoglobulin syndrome 63
            CD40 ligand deficiency + 4
            hyper IgE syndrome + 40
            hyper IgM syndrome + 19
            hyperimmunoglobulinemia D periodic fever syndrome 2
Path 2
Term Annotations click to browse term
  disease 15394
    disease of anatomical entity 15088
      Immune & Inflammatory Diseases 5144
        immune system disease 4558
          primary immunodeficiency disease 3979
            B cell deficiency 422
              selective immunoglobulin deficiency disease 68
                dysgammaglobulinemia 68
                  hyperimmunoglobulin syndrome 63
                    CD40 ligand deficiency + 4
                    hyper IgE syndrome + 40
                    hyper IgM syndrome + 19
                    hyperimmunoglobulinemia D periodic fever syndrome 2
paths to the root