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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
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
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:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639 		JBrowse link
G UNG uracil DNA glycosylase ISO Hyper-IgM syndrome 5, OMIM:608106 RGD PMID:12958596 RGD:1599705 NCBI chr11:104,302,507...104,325,160 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 chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566 		JBrowse link
G CD40LG CD40 ligand disease_progression ISO ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome OMIM
ClinVar
RGD		 PMID:21841160 PMID:25741868 PMID:28492532 RGD:5490298 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639 		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:128,768,028...128,788,366
Ensembl chr  X:128,770,268...128,786,961 		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:128,781,975...128,816,039
Ensembl chr  X:128,787,785...128,806,083 		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 chr16:63,840,693...63,863,162
Ensembl chr16:63,840,859...63,863,296 		JBrowse link
G IL4R interleukin 4 receptor no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr 5:25,019,638...25,069,732
Ensembl chr 5:25,046,701...25,070,015 		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 4:52,174,893...52,232,475
Ensembl chr 4:52,174,312...52,214,584 		JBrowse link
G LOC103243413 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 chr16:63,997,486...64,070,392
Ensembl chr16:63,997,441...64,070,445 		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 chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984 		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 chr16:63,959,265...63,986,627
Ensembl chr16:63,960,515...63,985,026 		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 chr16:72,004,087...72,061,889 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 chr12:79,060,579...79,298,145
Ensembl chr12:79,060,425...79,298,164 		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 chr12:78,775,214...79,015,538
Ensembl chr12:78,774,788...78,973,851 		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 NCBI chr12:79,335,976...79,387,793 JBrowse link
hyper IgE recurrent infection syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF341 zinc finger protein 341 ISO ClinVar Annotator: match by term: HYPER-IgE SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691 NCBI chr 2:38,020,915...38,081,559
Ensembl chr 2:38,028,765...38,080,814 		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 4:52,174,893...52,232,475
Ensembl chr 4:52,174,312...52,214,584 		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 chr16:72,004,087...72,061,889 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 chr12:78,551,312...78,679,517 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 chr12:79,060,579...79,298,145
Ensembl chr12:79,060,425...79,298,164 		JBrowse link
G DOP1A DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr13:7,739,401...7,845,309
Ensembl chr13:7,770,658...7,845,005 		JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		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 chr12:78,775,214...79,015,538
Ensembl chr12:78,774,788...78,973,851 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr13:7,841,724...7,871,013
Ensembl chr13:7,844,765...7,871,002 		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 chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984 		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 NCBI chr12:79,335,976...79,387,793 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 chr11:8,426,920...8,438,331
Ensembl chr11:8,428,922...8,431,641 		JBrowse link
G CD40 CD40 molecule ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566 		JBrowse link
G UNG uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:104,302,507...104,325,160 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 chr20:9,345,723...9,418,963
Ensembl chr20:9,361,152...9,396,610 		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 chr11:53,005,378...53,020,899
Ensembl chr11:53,006,145...53,021,203 		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 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 chr11:8,426,920...8,438,331
Ensembl chr11:8,428,922...8,431,641 		JBrowse link
G CD40 CD40 molecule ISO DNA:mutations:exons (human) RGD PMID:11675497 RGD:1599479 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566 		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 chr11:104,794,428...104,812,761
Ensembl chr11:104,792,228...104,812,527 		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 chr11:104,812,882...104,837,089
Ensembl chr11:104,813,846...104,835,517 		JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1M2 adaptor related protein complex 1 subunit mu 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 6:9,576,581...9,594,410
Ensembl chr 6:9,574,832...9,594,480 		JBrowse link
G ATG4D autophagy related 4D cysteine peptidase ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 6:9,555,792...9,565,295
Ensembl chr 6:9,555,780...9,568,814 		JBrowse link
G CDC37 cell division cycle 37, HSP90 cochaperone ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 6:9,427,220...9,439,469
Ensembl chr 6:9,427,191...9,439,913 		JBrowse link
G CDKN2D cyclin dependent kinase inhibitor 2D ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 6:9,579,648...9,582,249
Ensembl chr 6:9,579,470...9,582,101 		JBrowse link
G DNM2 dynamin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 6:9,718,014...9,830,061
Ensembl chr 6:9,718,244...9,831,206 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607 		JBrowse link
G FDX2 ferredoxin 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 6:9,359,446...9,364,702
Ensembl chr 6:9,359,719...9,364,689 		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 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263 		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 chr 6:9,338,478...9,340,029
Ensembl chr 6:9,338,588...9,340,185 		JBrowse link
G ICAM5 intercellular adhesion molecule 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 6:9,341,012...9,348,284
Ensembl chr 6:9,341,960...9,348,284 		JBrowse link
G ILF3 interleukin enhancer binding factor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 6:9,654,632...9,692,202
Ensembl chr 6:9,672,453...9,686,793 		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 6:9,515,789...9,526,699
Ensembl chr 6:9,515,416...9,522,797 		JBrowse link
G KRI1 KRI1 homolog ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 6:9,564,977...9,579,267
Ensembl chr 6:9,562,857...9,574,360 		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 6:9,304,882...9,314,215
Ensembl chr 6:9,304,913...9,314,220 		JBrowse link
G PDE4A phosphodiesterase 4A ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr 6:9,455,471...9,503,809 JBrowse link
G QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 6:9,704,002...9,709,990
Ensembl chr 6:9,704,037...9,710,071 		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 6:9,364,903...9,387,874
Ensembl chr 6:9,366,151...9,383,633 		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 6:9,281,130...9,291,705
Ensembl chr 6:9,283,529...9,284,590 		JBrowse link
G S1PR5 sphingosine-1-phosphate receptor 5 ISO ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr 6:9,537,083...9,542,610
Ensembl chr 6:9,538,156...9,539,352 		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 chr 6:9,607,224...9,646,535
Ensembl chr 6:9,630,113...9,646,389 		JBrowse link
G TYK2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY OMIM
ClinVar		 PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 More... NCBI chr 6:9,399,945...9,420,054
Ensembl chr 6:9,399,775...9,417,630 		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 6:9,353,883...9,359,187
Ensembl chr 6:9,353,859...9,357,927 		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 chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566 		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 chr11:104,325,250...104,488,567
Ensembl chr11:104,349,573...104,488,003 		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 chr11:104,302,507...104,325,160 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 chr11:8,426,920...8,438,331
Ensembl chr11:8,428,922...8,431,641 		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 chr11:8,294,999...8,303,866 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 chr11:8,315,888...8,322,240
Ensembl chr11:8,316,049...8,321,274 		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 chr11:8,227,590...8,250,857
Ensembl chr11:8,228,381...8,253,159 		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 chr16:15,980,927...16,012,572
Ensembl chr16:15,981,392...15,993,593 		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:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr16:15,980,927...16,012,572
Ensembl chr16:15,981,392...15,993,593 		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 chr13:37,918,902...38,138,838
Ensembl chr13:37,924,440...38,139,366 		JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694011 PMID:27723758 NCBI chr 5:10,420,866...10,658,370
Ensembl chr 5:10,420,931...10,658,507 		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 chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344 		JBrowse link
G ICOS inducible T cell costimulator susceptibility ISO DNA:SNPs,haplotype: :rs4521021,rs10172036(human) RGD PMID:19020530 RGD:11344917 NCBI chr10:89,706,755...89,732,600
Ensembl chr10:89,726,489...89,732,944 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694011 PMID:27723758 NCBI chr10:47,676,799...47,732,310
Ensembl chr10:47,676,920...47,732,264 		JBrowse link
selective IgA deficiency disease 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: IgAD1 ClinVar PMID:17697196 PMID:18200502 PMID:18981294 PMID:21419480 PMID:21458042 More... NCBI chr16:15,980,927...16,012,572
Ensembl chr16:15,981,392...15,993,593 		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 chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473 		JBrowse link
X-linked hyper IgM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,318,533...111,425,759
Ensembl chr  X:111,318,763...111,425,617 		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 chr11:8,426,920...8,438,331
Ensembl chr11:8,428,922...8,431,641 		JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,672,701...111,793,597
Ensembl chr  X:111,672,713...111,792,856 		JBrowse link
G BRS3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,488,422...111,496,637
Ensembl chr  X:111,489,165...111,493,375 		JBrowse link
G CD40 CD40 molecule ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566 		JBrowse link
G CD40LG CD40 ligand ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 | ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 More... NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639 		JBrowse link
G FHL1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,160,389...111,226,713
Ensembl chr  X:111,211,911...111,226,841 		JBrowse link
G GPR101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:112,057,904...112,063,298
Ensembl chr  X:112,058,791...112,060,323 		JBrowse link
G HTATSF1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,498,102...111,513,959
Ensembl chr  X:111,498,634...111,514,749 		JBrowse link
G MAP7D3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,232,087...111,266,950
Ensembl chr  X:111,232,072...111,266,863 		JBrowse link
G RBMX RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,880,859...111,892,660 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:110,997,985...111,060,164
Ensembl chr  X:110,998,281...111,060,252 		JBrowse link
G UNG uracil DNA glycosylase ISO ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr11:104,302,507...104,325,160 JBrowse link
G VGLL1 vestigial like family member 1 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:111,531,915...111,558,753 JBrowse link
G ZIC3 Zic family member 3 ISO ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:112,597,329...112,609,411
Ensembl chr  X:112,598,466...112,601,803 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      hematopoietic system disease 3626
        blood protein disease 665
          dysgammaglobulinemia 69
            Epilepsy Telangiectasia 0
            hyperimmunoglobulin syndrome + 64
            immunoglobulin alpha deficiency + 6
            selective IgA deficiency disease 1
            selective IgE deficiency disease 0
            selective IgG deficiency disease + 1
            selective IgM deficiency disease 0
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      Immune & Inflammatory Diseases 5133
        immune system disease 4556
          primary immunodeficiency disease 3971
            B cell deficiency 434
              selective immunoglobulin deficiency disease 69
                dysgammaglobulinemia 69
                  Epilepsy Telangiectasia 0
                  hyperimmunoglobulin syndrome + 64
                  immunoglobulin alpha deficiency + 6
                  selective IgA deficiency disease 1
                  selective IgE deficiency disease 0
                  selective IgG deficiency disease + 1
                  selective IgM deficiency disease 0
paths to the root