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
Accession: DOID:11702
browse the term
Definition: An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.
Synonyms: exact_synonym: Dysgammaglobulinemias
primary_id: MESH:D004406
alt_id: RDO:0000636
For additional species annotation, visit the
Alliance of Genome Resources .
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Cd40lg
CD40 ligand
ISO
Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230
RGD
PMID:7678782
RGD:1599480
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Igkc
immunoglobulin kappa constant
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3931219
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Ung
uracil-DNA glycosylase
ISO
Hyper-IgM syndrome 5, OMIM:608106
RGD
PMID:12958596
RGD:1599705
NCBI chr12:48,246,593...48,255,547
Ensembl chr12:48,246,569...48,254,822
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Cd40lg
CD40 ligand
disease_progression
ISO
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) ClinVar Annotator: match by OMIM:308230 DNA:mutations:exon, intron:multiple DNA:missense mutation:exon:p.T169N (526T>A) (human)
ClinVar RGD CTD OMIM
PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 PMID:7679801 PMID:7906987 PMID:7916370 PMID:8094231 PMID:8550833 PMID:8589998 PMID:8889581 PMID:9746782 PMID:10366125 PMID:10484640 PMID:10559240 PMID:10651941 PMID:11158612 PMID:14641931 PMID:15358621 PMID:15611226 PMID:15623492 PMID:15924140 PMID:16019685 PMID:16169277 PMID:16509032 PMID:17146684 PMID:17351759 PMID:18805740 PMID:18955577 PMID:19575287 PMID:20301576 PMID:20591076 PMID:20625427 PMID:20652909 PMID:20981468 PMID:21543760 PMID:21841160 PMID:22750225 PMID:22928961 PMID:22963373 PMID:23622016 PMID:24402618 PMID:25541662 PMID:25741868 PMID:27324886 PMID:28492532 PMID:29077208 , PMID:21841160 , PMID:17553565 , PMID:15358621 , PMID:16508335
RGD:5490298 , RGD:5490298 , RGD:11039457 , RGD:8547781 , RGD:8547779
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar
PMID:25741868
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by OMIM:300291 ClinVar Annotator: match by synonym: EDA-ID ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency DNA:mutation:splicing site: ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
OMIM ClinVar
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:29077208 , PMID:16333836
RGD:12791265
NCBI chr X:156,254,187...156,280,046
Ensembl chr X:156,257,173...156,270,748
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Il4r
interleukin 4 receptor
no_association
ISO
DNA:mutation:cds:p.Q576R(human)
RGD
PMID:9537881
RGD:11530003
NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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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 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar Annotator: match by term: Job syndrome
ClinVar OMIM
PMID:4161105 PMID:17676033 PMID:17881745 PMID:17942886 PMID:18591410 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:19577286 PMID:20032313 PMID:20048285 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21107604 PMID:21324546 PMID:21690253 PMID:21792878 PMID:22030463 PMID:22581330 PMID:22591296 PMID:22751495 PMID:23342295 PMID:23584561 PMID:23584591 PMID:23659370 PMID:23830147 PMID:24033266 PMID:24452316 PMID:24627079 PMID:24995504 PMID:25038750 PMID:25359994 PMID:25741868 PMID:25873174 PMID:26384563 PMID:26702067 PMID:26743515 PMID:27091139 PMID:27226025 PMID:27302695 PMID:27379089 PMID:27799162 PMID:27980540 PMID:28098554 PMID:28197791 PMID:28253502 PMID:28315006 PMID:28492532 PMID:28579554 PMID:28587312 PMID:28977911 PMID:29077208 PMID:29162862 PMID:29296824 PMID:29330115 PMID:29868029 , PMID:17676033
RGD:6892956
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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Dock8
dedicator of cytokinesis 8
ISO
DNA:mutation:cds:
OMIM
PMID:21763205
RGD:40907054
NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
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Zfp341
zinc finger protein 341
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
ClinVar OMIM
PMID:25741868 PMID:29907690 PMID:29907691
NCBI chr 3:150,114,853...150,172,425
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Il6st
interleukin 6 cytokine family signal transducer
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE
ClinVar OMIM
PMID:28747427 PMID:30309848
NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
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C1H9orf66
chromosome 1 open reading frame, human C9orf66
ISO
ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
PMID:20226292 PMID:22476911 PMID:25724123 PMID:26680607 PMID:27980540 PMID:28492532
NCBI chr 1:242,958,912...242,961,750
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Dock8
dedicator of cytokinesis 8
ISO
ClinVar Annotator: match by OMIM:243700 ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar CTD
PMID:14722525 PMID:16391785 PMID:18060736 PMID:19776401 PMID:20226292 PMID:22476911 PMID:24033266 PMID:24797421 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26573532 PMID:26680607 PMID:26744459 PMID:27379089 PMID:27872624 PMID:27890707 PMID:27980540 PMID:28492532 PMID:29867916
NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
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Dop1a
DOP1 leucine zipper like protein A
ISO
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
PMID:24698316
NCBI chr 8:94,122,733...94,225,131
Ensembl chr 8:94,122,728...94,225,031
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16112032
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Pgm3
phosphoglucomutase 3
ISO
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
PMID:3500672 PMID:24698316
NCBI chr 8:94,225,513...94,243,230
Ensembl chr 8:94,225,515...94,243,215
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar Annotator: match by term: Hyperimmunoglobulin E syndrome
CTD ClinVar
PMID:17881745 PMID:18591412 PMID:18602572 PMID:18706697 PMID:18978467 PMID:20032313 PMID:20159255 PMID:20301786 PMID:20816194 PMID:21792878 PMID:22751495 PMID:24033266 PMID:25038750 PMID:25741868 PMID:26384563 PMID:27226025 PMID:27799162 PMID:27980540 PMID:28098554 PMID:28315006 PMID:28492532 PMID:29077208 PMID:29868029
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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Aicda
activation-induced cytidine deaminase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM
CTD ClinVar
PMID:24033266 PMID:28492532
NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
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Cd40
CD40 molecule
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM
CTD ClinVar
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Hyper IgM syndrome
ClinVar
PMID:9746782 PMID:10484640 PMID:15358621 PMID:17351759 PMID:19575287 PMID:20301576 PMID:24402618 PMID:25541662 PMID:28492532
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Ung
uracil-DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM
CTD ClinVar
NCBI chr12:48,246,593...48,255,547
Ensembl chr12:48,246,569...48,254,822
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Il6r
interleukin 6 receptor
ISO
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
ClinVar OMIM
PMID:31235509
NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
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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 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
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Cd40
CD40 molecule
ISO
DNA:mutations:exons (human)
RGD
PMID:11675497
RGD:1599479
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Tyk2
tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Tyrosine kinase 2 deficiency ClinVar Annotator: match by OMIM:611521
OMIM ClinVar
PMID:17088085 PMID:21680795 PMID:22402565 PMID:24033266 PMID:25388448 PMID:25741868 PMID:25849893 PMID:26288847 PMID:26304966 PMID:27872624 PMID:28492532 PMID:29725107 PMID:31118190
NCBI chr 8:22,118,224...22,149,807
Ensembl chr 8:22,124,560...22,150,005
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Cd40
CD40 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3
ClinVar OMIM
PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 PMID:15307939 PMID:15731360 PMID:17344890 PMID:17949264 PMID:18446002 PMID:20702779 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Ung
uracil-DNA glycosylase
ISO
ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5
ClinVar OMIM
PMID:12958596 PMID:15967827 PMID:17029639 PMID:21167187 PMID:22252118 PMID:22521144 PMID:23545420 PMID:28492532
NCBI chr12:48,246,593...48,255,547
Ensembl chr12:48,246,569...48,254,822
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Aicda
activation-induced cytidine deaminase
ISO
ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 2 ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
ClinVar OMIM
PMID:11007475 PMID:12910268 PMID:14769937 PMID:14962793 PMID:15358621 PMID:15893695 PMID:16964591 PMID:17560278 PMID:20652909 PMID:21192628 PMID:22715099 PMID:24033266 PMID:24349193 PMID:24591601 PMID:25025377 PMID:25064858 PMID:25741868 PMID:26551569 PMID:27577878 PMID:28492532
NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
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Clec4a
C-type lectin domain family 4, member A
ISO
ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
ClinVar
PMID:16964591 PMID:28492532
NCBI chr 4:156,049,800...156,069,260
Ensembl chr 4:156,050,054...156,069,313
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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 4:156,253,084...156,264,766
Ensembl chr 4:156,253,079...156,264,769
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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 4:156,271,087...156,276,243
Ensembl chr 4:156,270,920...156,276,304
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 ClinVar Annotator: match by OMIM:609529
OMIM ClinVar
PMID:8072530 PMID:15077010 PMID:16007086 PMID:16007087 PMID:16299065 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17464555 PMID:17492055 PMID:17917015 PMID:17947292 PMID:17983875 PMID:18496551 PMID:18509552 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19605846 PMID:19629655 PMID:19779048 PMID:20006554 PMID:20156508 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916
NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
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Ahi1
Abelson helper integration site 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27723758
NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
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Clec16a
C-type lectin domain containing 16A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20694011 PMID:27723758
NCBI chr10:5,002,196...5,196,914
Ensembl chr10:5,009,826...5,196,892
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNPs,haplotype: :rs231770,rs16840252,rs231775(human)
RGD
PMID:19020530
RGD:11344917
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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Icos
inducible T-cell co-stimulator
susceptibility
ISO
DNA:SNPs,haplotype: :rs4521021,rs10172036(human)
RGD
PMID:19020530
RGD:11344917
NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20694011 PMID:27723758
NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
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Pvt1
Pvt1 oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27723758
NCBI chr 7:102,648,394...102,871,316
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RT1-Bb
RT1 class II, locus Bb
ISO
RGD
PMID:22291608 , PMID:10931389
RGD:11041755 , RGD:11041756
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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Tnfrsf13b
TNF receptor superfamily member 13B
ISS
OMIM:137100 | OMIM:269650 | OMIM:609529
MouseDO
NCBI chr10:47,399,834...47,422,907
Ensembl chr10:47,412,582...47,420,951
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Ifng
interferon gamma
ISO
mRNA:decreased expression:peripheral blood leukocyte:
RGD
PMID:9042436
RGD:10755693
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome
ClinVar
PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 PMID:7679801 PMID:7906987 PMID:7916370 PMID:8094231 PMID:8550833 PMID:8589998 PMID:8889581 PMID:9746782 PMID:10366125 PMID:10484640 PMID:10559240 PMID:10651941 PMID:11158612 PMID:14641931 PMID:15358621 PMID:15623492 PMID:15924140 PMID:16019685 PMID:16169277 PMID:16509032 PMID:17146684 PMID:17351759 PMID:18805740 PMID:18955577 PMID:19575287 PMID:20301576 PMID:20591076 PMID:20625427 PMID:20652909 PMID:20981468 PMID:21543760 PMID:22750225 PMID:22928961 PMID:22963373 PMID:23622016 PMID:24402618 PMID:25541662 PMID:25741868 PMID:27189378 PMID:27324886 PMID:28492532 PMID:29077208
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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