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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.



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hyperimmunoglobulin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AICDA activation induced cytidine deaminase onset
susceptibility
ISO 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)
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 chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
JBrowse link
G CD40 CD40 molecule ISO DNA:mutations:exons (human) RGD PMID:11675497 RGD:1599479 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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 chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
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:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674
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:143,988,720...144,010,078
Ensembl chr  X:153,854,493...153,876,092
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 chr17:14,892,936...14,914,017
Ensembl chr17:15,117,091...15,139,223
JBrowse link
G IL4R interleukin 4 receptor no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 Ensembl chr16:27,642,702...27,737,445 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 chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817
JBrowse link
G LOC100988550 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 chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783
JBrowse link
G LOC100989105 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 chr17:15,040,303...15,116,682
Ensembl chr17:15,306,418...15,336,463
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 chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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 chr17:74,120,483...74,187,323
Ensembl chr17:79,656,287...79,722,565
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 9:6,791...256,837
Ensembl chr 9:201,156...446,910
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 9:550,713...556,230 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
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 chr20:30,018,348...30,079,721
Ensembl chr20:31,164,597...31,218,282
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 chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817
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 chr17:74,120,483...74,187,323
Ensembl chr17:79,656,287...79,722,565
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 9:650,678...778,519
Ensembl chr 9:844,366...972,656
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 9:6,791...256,837
Ensembl chr 9:201,156...446,910
JBrowse link
G DOP1A DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 6:80,964,118...81,065,351
Ensembl chr 6:84,238,657...84,339,687
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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 9:550,713...556,230 JBrowse link
G PGM3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 6:81,062,356...81,090,215
Ensembl chr 6:84,336,092...84,364,515
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 chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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
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 chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
JBrowse link
G CD40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G UNG uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:106,674,073...106,687,054
Ensembl chr12:110,067,879...110,080,891
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 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089
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 Ensembl chr12:32,068,679...32,085,099 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 chr12:107,130,410...107,150,274
Ensembl chr12:110,528,043...110,544,871
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 chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524
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 chr19:10,124,413...10,139,396
Ensembl chr19:10,785,627...10,801,615
JBrowse link
G ATG4D autophagy related 4D cysteine peptidase ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,095,768...10,105,250
Ensembl chr19:10,758,544...10,767,712
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 chr19:9,942,644...9,955,112
Ensembl chr19:10,606,246...10,618,702
JBrowse link
G CDKN2D cyclin dependent kinase inhibitor 2D ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,118,302...10,120,957 JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972
JBrowse link
G FDX2 ferredoxin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,860,316...9,866,442
Ensembl chr19:10,526,287...10,532,152
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G ICAM3 intercellular adhesion molecule 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532
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 chr19:9,837,157...9,838,862
Ensembl chr19:10,501,005...10,502,176
JBrowse link
G ICAM5 intercellular adhesion molecule 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,839,821...9,847,198
Ensembl chr19:10,504,037...10,511,716
JBrowse link
G ILF3 interleukin enhancer binding factor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,206,636...10,244,779
Ensembl chr19:10,867,143...10,905,953
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 chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604
JBrowse link
G KRI1 KRI1 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,104,944...10,117,905
Ensembl chr19:10,767,384...10,780,254
JBrowse link
G MRPL4 mitochondrial ribosomal protein L4 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,802,353...9,810,433
Ensembl chr19:10,465,461...10,473,548
JBrowse link
G PDE4A phosphodiesterase 4A ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,956,019...10,020,538
Ensembl chr19:10,632,273...10,681,944
JBrowse link
G QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,255,479...10,267,367
Ensembl chr19:10,916,330...10,928,899
JBrowse link
G RAVER1 ribonucleoprotein, PTB binding 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:9,866,631...9,883,833
Ensembl chr19:10,532,362...10,549,142
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 chr19:9,771,888...9,781,944
Ensembl chr19:10,436,502...10,437,563
JBrowse link
G S1PR5 sphingosine-1-phosphate receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,064,332...10,069,999
Ensembl chr19:10,727,527...10,728,728
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 chr19:10,154,320...10,196,898
Ensembl chr19:10,815,820...10,857,693
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 chr19:9,901,612...9,932,623
Ensembl chr19:10,565,490...10,594,541
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 chr19:9,855,211...9,860,326
Ensembl chr19:10,520,360...10,524,757
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 chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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 chr12:106,692,668...106,845,490
Ensembl chr12:110,086,374...110,239,847
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 chr12:106,674,073...106,687,054
Ensembl chr12:110,067,879...110,080,891
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 chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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 chr12:8,599,654...8,608,494
Ensembl chr12:8,814,680...8,823,484
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 chr12:8,620,618...8,627,610 JBrowse link
G CLEC6A C-type lectin domain containing 6A ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr12:8,537,766...8,560,736
Ensembl chr12:8,752,778...8,775,738
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 chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053
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:125,424,181...125,546,128
Ensembl chr  X:135,694,869...135,812,388
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 chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917
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:125,794,158...125,909,809
Ensembl chr  X:136,058,879...136,176,110
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:125,617,592...125,623,411
Ensembl chr  X:135,883,613...135,888,069
JBrowse link
G CD40 CD40 molecule ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202
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:125,270,340...125,334,961
Ensembl chr  X:135,559,321...135,602,375
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:126,149,803...126,159,844
Ensembl chr  X:136,418,522...136,420,048
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:125,626,714...125,641,988
Ensembl chr  X:135,892,697...135,910,919
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:125,337,678...125,375,182
Ensembl chr  X:135,605,208...135,646,956
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:125,997,989...126,009,525
Ensembl chr  X:136,264,406...136,275,360
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:125,099,378...125,171,161
Ensembl chr  X:135,378,094...135,439,781
JBrowse link
G UNG uracil DNA glycosylase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr12:106,674,073...106,687,054
Ensembl chr12:110,067,879...110,080,891
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:125,660,337...125,685,373
Ensembl chr  X:135,926,371...135,951,303
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:126,691,534...126,705,788
Ensembl chr  X:136,954,024...136,967,819
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15805
    syndrome 10605
      primary immunodeficiency disease 4083
        B cell deficiency 441
          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 15805
    disease of anatomical entity 15483
      Immune & Inflammatory Diseases 5244
        immune system disease 4670
          primary immunodeficiency disease 4083
            B cell deficiency 441
              selective immunoglobulin deficiency disease 70
                dysgammaglobulinemia 70
                  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