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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:dysgammaglobulinemia
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Accession:DOID:11702 term browser browse the term
Definition:A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. (DO)
Synonyms:exact_synonym: Dysgammaglobulinemias
 primary_id: MESH:D004406
 alt_id: RDO:0000636
For additional species annotation, visit the Alliance of Genome Resources.



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dysgammaglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd40lg CD40 ligand ISO Hyper-IgM Immunodeficiency Syndrome HIGM1, OMIM:308230 RGD PMID:7678782 RGD:1599480 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Igkc immunoglobulin kappa constant ISO CTD Direct Evidence: marker/mechanism CTD PMID:3931219
G Ung uracil-DNA glycosylase ISO Hyper-IgM syndrome 5, OMIM:608106 RGD PMID:12958596 RGD:1599705 NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
JBrowse link
CD40 ligand deficiency 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: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449
JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983
JBrowse link
G Cd40lg CD40 ligand disease_progression ISO ClinVar Annotator: match by term: Hyper IgM immunodeficiency, X-linked | ClinVar Annotator: match by term: IMMUNODEFICIENCY 3 | 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
RGD
CTD
OMIM
PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958
JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607
JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841
JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,430,588...134,486,747
Ensembl chr  X:134,420,756...134,485,375
JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
DNA:mutation:splicing site:
OMIM
ClinVar
RGD
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
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 Il4r interleukin 4 receptor no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 ClinVar PMID:25741868 PMID:32207811 NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 ClinVar
OMIM
RGD
PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 More... RGD:6892956 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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 C1H9orf66 chromosome 1 open reading frame, human C9orf66 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:9536098 PMID:14722525 PMID:16199547 PMID:17576681 PMID:19776401 More...
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
DNA:mutation:cds:
OMIM
ClinVar
RGD
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... RGD:40907054 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:14722525 PMID:19776401 PMID:20622910 PMID:27398204 PMID:28492532 More... NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
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 recurrent infection syndrome 3, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691 NCBI chr 3:143,122,699...143,156,250
Ensembl chr 3:143,119,093...143,156,249
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 4, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28747427 PMID:30309848 PMID:32207811 More... NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
JBrowse link
hyper IgE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1H9orf66 chromosome 1 open reading frame, human C9orf66 ISO 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...
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism
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 Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
CTD
ClinVar
PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Kank1 KN motif and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:14722525 PMID:19776401 PMID:20622910 PMID:27398204 PMID:28492532 More... NCBI chr 1:222,877,962...223,074,514
Ensembl chr 1:222,877,622...223,074,514
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive | ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 8:87,517,931...87,536,034
Ensembl chr 8:87,517,701...87,536,022
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 chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Cd40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Immunodeficiency with Hyper-IgM ClinVar PMID:9746782 PMID:15358621 PMID:17351759 PMID:19575287 PMID:20301576 More... NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Ung uracil-DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
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 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
hyperimmunoglobulin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase susceptibility
onset
ISO DNA:splice-site mutation:intron:IVS2+1G>T (human)
DNA:missense mutations, nonsense mutation:exon:p.W84X, p.R112C, p.R112H (human)
DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)
RGD PMID:11007475 PMID:15372234 PMID:11112359 PMID:17553565 RGD:1598906, RGD:11039485, RGD:11039483, RGD:11039457 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Cd40 CD40 molecule ISO DNA:mutations:exons (human) RGD PMID:11675497 RGD:1599479 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17088085 PMID:17576681 PMID:21680795 More... NCBI chr 8:19,641,881...19,667,157
Ensembl chr 8:19,641,884...19,667,044
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: 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 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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 chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
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 chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
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:12910268 PMID:14564357 PMID:14769937 More... NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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 4:156,589,591...156,598,969
Ensembl chr 4:156,589,792...156,598,848
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 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767
JBrowse link
G Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605
JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:25741868 NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
JBrowse link
Immunoglobulin A Deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: IgA, selective deficiency of, TACI related | ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 OMIM
ClinVar
PMID:8072530 PMID:15077010 PMID:16007086 PMID:16007087 PMID:16299065 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
immunoglobulin alpha deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27723758 NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694011 PMID:27723758 NCBI chr10:4,927,804...5,123,749
Ensembl chr10:4,928,030...5,123,578
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNPs,haplotype: :rs231770,rs16840252,rs231775(human) RGD PMID:19020530 RGD:11344917 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Icos inducible T-cell co-stimulator susceptibility ISO DNA:SNPs,haplotype: :rs4521021,rs10172036(human) RGD PMID:19020530 RGD:11344917 NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694011 PMID:27723758 NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
G Pvt1 Pvt1 oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:27723758 NCBI chr 7:93,656,249...93,879,938 JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO RGD PMID:22291608 PMID:10931389 RGD:11041755, RGD:11041756 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISS OMIM:137100 | OMIM:269650 | OMIM:609529 MouseDO NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
selective IgG deficiency disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO mRNA:decreased expression:peripheral blood leukocyte: RGD PMID:9042436 RGD:10755693 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449
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 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983
JBrowse link
G Cd40 CD40 molecule ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1 | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958
JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607
JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841
JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,430,588...134,486,747
Ensembl chr  X:134,420,756...134,485,375
JBrowse link
G Ung uracil-DNA glycosylase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr12:42,485,276...42,494,217
Ensembl chr12:42,485,276...42,494,206
JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar PMID:21465648 PMID:24123890 PMID:28492532 NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      hematopoietic system disease 2822
        blood protein disease 516
          dysgammaglobulinemia 42
            Epilepsy Telangiectasia 0
            hyperimmunoglobulin syndrome + 33
            immunoglobulin alpha deficiency + 8
            selective IgA deficiency disease 0
            selective IgE deficiency disease 0
            selective IgG deficiency disease + 1
            selective IgM deficiency disease 0
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Immune & Inflammatory Diseases 5154
        immune system disease 4479
          primary immunodeficiency disease 3820
            B cell deficiency 278
              selective immunoglobulin deficiency disease 42
                dysgammaglobulinemia 42
                  Epilepsy Telangiectasia 0
                  hyperimmunoglobulin syndrome + 33
                  immunoglobulin alpha deficiency + 8
                  selective IgA deficiency disease 0
                  selective IgE deficiency disease 0
                  selective IgG deficiency disease + 1
                  selective IgM deficiency disease 0
paths to the root