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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: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:15372234 PMID:11112359 PMID:17553565 RGD:1598906, RGD:11039485, RGD:11039483, RGD:11039457 NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139 		JBrowse link
G Cd40 CD40 antigen ISO DNA:mutations:exons (human) RGD PMID:11675497 RGD:1599479 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
CD40 ligand deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40 CD40 antigen ISO ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM ClinVar PMID:25741868 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cd40lg CD40 ligand disease_progression IDA
ISO		 ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:mutations:exon, intron:multiple
DNA:missense mutation:exon:p.T169N (526T>A) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:15611226 PMID:25741868 PMID:28492532 PMID:21841160 PMID:17553565 More... RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Ikbkg inhibitor of kappaB kinase 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
CTD Direct Evidence: marker/mechanism
DNA:mutation:splicing site:		 OMIM
ClinVar
CTD
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		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 1 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr11:100,847,562...100,861,443
Ensembl chr11:100,847,559...100,861,713 		JBrowse link
G Il4ra interleukin 4 receptor, alpha no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
G Il6st interleukin 6 signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:25741868 PMID:32207811 NCBI chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO
IAGP		 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:147060
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 More... RGD:6892956 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		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 chr11:100,750,177...100,775,995
Ensembl chr11:100,750,177...100,775,995 		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 chr11:100,671,557...100,741,407
Ensembl chr11:100,671,557...100,741,550 		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 containing 40 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 chr11:119,119,328...119,156,074
Ensembl chr11:119,119,398...119,156,064 		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
DNA:mutation:cds:		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... RGD:40907054 NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796 		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 chr19:25,214,146...25,411,861
Ensembl chr19:25,214,339...25,411,860 		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 chr19:24,897,280...24,939,024
Ensembl chr19:24,897,280...24,938,974 		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 Zfp341 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 chr 2:154,453,736...154,488,741
Ensembl chr 2:154,455,217...154,488,741 		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 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 chr13:112,600,604...112,643,394
Ensembl chr13:112,600,604...112,646,620 		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 containing 40 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 chr11:119,119,328...119,156,074
Ensembl chr11:119,119,398...119,156,064 		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 chr19:25,483,070...25,581,692
Ensembl chr19:25,482,982...25,581,693 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796 		JBrowse link
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 9:86,349,194...86,436,683
Ensembl chr 9:86,349,207...86,437,976 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		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 chr19:25,214,146...25,411,861
Ensembl chr19:25,214,339...25,411,860 		JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 9:86,423,997...86,453,927
Ensembl chr 9:86,436,430...86,453,895 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgE syndrome		 CTD
ClinVar		 PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 More... NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		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 chr19:24,897,280...24,939,024
Ensembl chr19:24,897,280...24,938,974 		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 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139 		JBrowse link
G Cd40 CD40 antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:114,268,427...114,277,382
Ensembl chr 5:114,268,447...114,277,384 		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 Il6ra interleukin 6 receptor, alpha 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 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503 		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 chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826 		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 methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human) 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 chr 5:114,569,095...114,582,134
Ensembl chr 5:114,569,095...114,582,121 		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 chr 5:114,582,324...114,598,652
Ensembl chr 5:114,582,330...114,598,652 		JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1m2 adaptor protein complex AP-1, mu 2 subunit ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,206,753...21,223,617
Ensembl chr 9:21,205,571...21,223,633 		JBrowse link
G Atg4d autophagy related 4D, cysteine peptidase ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,176,496...21,186,133
Ensembl chr 9:21,176,589...21,189,068 		JBrowse link
G Cdc37 cell division cycle 37 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 9:21,050,727...21,061,230
Ensembl chr 9:21,044,518...21,061,278 		JBrowse link
G Cdkn2d cyclin dependent kinase inhibitor 2D ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,199,759...21,202,553
Ensembl chr 9:21,199,706...21,202,703 		JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
G Fdx2 ferredoxin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 9:20,978,808...20,984,827
Ensembl chr 9:20,978,816...20,984,910 		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 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		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 chr 9:20,940,728...20,941,892
Ensembl chr 9:20,940,669...20,941,891 		JBrowse link
G Icam5 intercellular adhesion molecule 5, telencephalin ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 9:20,943,372...20,950,331
Ensembl chr 9:20,943,369...20,950,332 		JBrowse link
G Ilf3 interleukin enhancer binding factor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,278,964...21,316,659
Ensembl chr 9:21,279,167...21,316,657 		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 9:21,141,026...21,150,628
Ensembl chr 9:21,141,026...21,150,657 		JBrowse link
G Kri1 KRI1 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,184,753...21,199,265
Ensembl chr 9:21,184,753...21,199,265 		JBrowse link
G Mir199a-1 microRNA 199a-1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,407,791...21,407,860
Ensembl chr 9:21,407,791...21,407,860 		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 9:20,907,040...20,920,135
Ensembl chr 9:20,914,034...20,920,135 		JBrowse link
G Pde4a phosphodiesterase 4A, cAMP specific ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 9:21,076,998...21,124,544
Ensembl chr 9:21,073,005...21,124,544 		JBrowse link
G Qtrt1 queuine tRNA-ribosyltransferase catalytic subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,323,096...21,331,575
Ensembl chr 9:21,323,133...21,331,570 		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 9:20,985,454...21,003,295
Ensembl chr 9:20,985,454...21,003,304 		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 9:20,877,248...20,888,089
Ensembl chr 9:20,873,657...20,888,077 		JBrowse link
G S1pr5 sphingosine-1-phosphate receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,154,213...21,159,739
Ensembl chr 9:21,154,208...21,159,739 		JBrowse link
G Slc44a2 solute carrier family 44, member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 9:21,232,015...21,266,324
Ensembl chr 9:21,231,994...21,266,324 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 More... NCBI chr 9:21,015,364...21,042,689
Ensembl chr 9:21,015,364...21,042,539 		JBrowse link
G Zglp1 zinc finger, GATA-like protein 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 9:20,973,689...20,978,389
Ensembl chr 9:20,973,689...20,978,389 		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 antigen 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 chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		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-Coenzyme A carboxylase beta ISO ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chr 5:114,284,748...114,388,822
Ensembl chr 5:114,284,596...114,388,822 		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 chr 5:114,268,427...114,277,382
Ensembl chr 5:114,268,447...114,277,384 		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
IAGP		 ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
OMIM:605258		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11007475 PMID:11112359 PMID:12715918 PMID:12910268 More... NCBI chr 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139 		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 chr 6:123,239,066...123,252,227
Ensembl chr 6:123,239,070...123,252,224 		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 6:123,258,748...123,266,830
Ensembl chr 6:123,258,748...123,266,829 		JBrowse link
G Clec4n C-type lectin domain family 4, member n ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 6:123,206,802...123,223,983
Ensembl chr 6:123,206,802...123,223,980 		JBrowse link
G Tnfrsf13b tumor necrosis factor 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 chr11:61,017,567...61,040,435
Ensembl chr11:61,017,581...61,040,198 		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:55,939,594...56,025,719
Ensembl chr  X:55,915,523...56,046,918 		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 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139 		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:56,276,845...56,384,119
Ensembl chr  X:56,276,845...56,384,089 		JBrowse link
G Brs3 bombesin-like receptor 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:56,088,434...56,094,118
Ensembl chr  X:56,088,434...56,094,118 		JBrowse link
G Cd40 CD40 antigen ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		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:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		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:55,776,569...55,838,704
Ensembl chr  X:55,777,147...55,838,706 		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:56,542,028...56,549,117
Ensembl chr  X:56,542,028...56,549,117 		JBrowse link
G Htatsf1 HIV 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:56,098,930...56,112,543
Ensembl chr  X:56,098,943...56,112,543 		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:55,840,193...55,867,866
Ensembl chr  X:55,843,218...55,867,686 		JBrowse link
G Rbmx RNA binding motif protein, X chromosome 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:56,428,708...56,438,405
Ensembl chr  X:56,428,890...56,438,396 		JBrowse link
G Slc9a6 solute carrier family 9 (sodium/hydrogen exchanger), member 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:55,654,921...55,709,590
Ensembl chr  X:55,655,117...55,709,590 		JBrowse link
G Ung uracil DNA glycosylase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr 5:114,268,427...114,277,382
Ensembl chr 5:114,268,447...114,277,384 		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:56,133,466...56,151,900
Ensembl chr  X:56,133,466...56,151,900 		JBrowse link
G Zic3 zinc finger protein of the cerebellum 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:57,075,988...57,081,990
Ensembl chr  X:57,068,060...57,087,096 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16225
    syndrome 10770
      primary immunodeficiency disease 4133
        B cell deficiency 438
          hyperimmunoglobulin syndrome 64
            CD40 ligand deficiency + 4
            hyper IgE syndrome + 40
            hyper IgM syndrome + 20
            hyperimmunoglobulinemia D periodic fever syndrome 2
Path 2
Term Annotations click to browse term
  disease 16225
    disease of anatomical entity 15844
      Immune & Inflammatory Diseases 5365
        immune system disease 4732
          primary immunodeficiency disease 4133
            B cell deficiency 438
              selective immunoglobulin deficiency disease 72
                dysgammaglobulinemia 72
                  hyperimmunoglobulin syndrome 64
                    CD40 ligand deficiency + 4
                    hyper IgE syndrome + 40
                    hyper IgM syndrome + 20
                    hyperimmunoglobulinemia D periodic fever syndrome 2
paths to the root