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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hyperimmunoglobulin syndrome
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Accession:DOID:2959 term browser browse the term
Definition:A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. (DO)
Synonyms:xref: NCI:C27579
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hyperimmunoglobulin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AICDA activation induced cytidine deaminase susceptibility
onset		 IAGP 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 chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242 		JBrowse link
G CD40 CD40 molecule IAGP DNA:mutations:exons (human) RGD PMID:11675497 RGD:1599479 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		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 IAGP ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM ClinVar PMID:25741868 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand disease_progression IDA
IAGP
ISO
EXP		 ClinVar Annotator: match by term: X-linked hyper-IgM syndrome
ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM
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:15611226 PMID:21841160 PMID:25741868 PMID:28492532 PMID:21841160 More... RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		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 IAGP ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP
EXP		 DNA:mutation:splicing site:
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia		 ClinVar
CTD
OMIM
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G LOC108281126 G6PD and IKBKG intron CAGE-defined low expression enhancer IAGP ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia ClinVar PMID:25741868 NCBI chr  X:154,541,534...154,543,269 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 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G IL4R interleukin 4 receptor no_association IAGP DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:25741868 PMID:32207811 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G LOC130060888 ATAC-STARR-seq lymphoblastoid active region 12197 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: Job syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:42,337,364...42,337,673 JBrowse link
G LOC130060889 ATAC-STARR-seq lymphoblastoid silent region 8525 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr17:42,337,804...42,337,853 JBrowse link
G LOC130060892 ATAC-STARR-seq lymphoblastoid silent region 8528 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar NCBI chr17:42,388,093...42,388,372 JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome
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
ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: Job syndrome
OMIM:147060
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:4161105 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17676033 More... RGD:6892956 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT5A signal transducer and activator of transcription 5A IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr17:42,287,439...42,311,943
Ensembl chr17:42,287,547...42,311,943 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:28492532 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		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 IAGP 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 chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP 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: DOCK8-related condition | ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
DNA:mutation:cds:		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... RGD:40907054 NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G DOCK8-AS1 DOCK8 antisense RNA 1 IAGP ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
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		 ClinVar PMID:14722525 PMID:19776401 PMID:20226292 PMID:20622910 PMID:23859592 More... NCBI chr 9:213,457...215,750
Ensembl chr 9:212,824...215,893 		JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 IAGP ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS ClinVar PMID:28492532 NCBI chr 9:470,295...746,103
Ensembl chr 9:470,291...746,105 		JBrowse link
G LOC110120718 VISTA enhancer hs628 IAGP ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:33290277 NCBI chr 9:159,657...160,780 JBrowse link
G LOC126860552 BRD4-independent group 4 enhancer GRCh37_chr9:285795-286994 IAGP ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
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		 ClinVar PMID:24033266 PMID:25640679 PMID:25741868 PMID:26680607 PMID:28492532 More... NCBI chr 9:285,795...286,994 JBrowse link
G LOC130001435 ATAC-STARR-seq lymphoblastoid silent region 19720 IAGP ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:26680607 PMID:33290277 NCBI chr 9:214,620...214,869 JBrowse link
G LOC130001436 ATAC-STARR-seq lymphoblastoid silent region 19721 IAGP ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 PMID:26680607 PMID:33290277 NCBI chr 9:214,880...214,929 JBrowse link
G LOC130001437 ATAC-STARR-seq lymphoblastoid silent region 19722 IAGP ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
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		 ClinVar PMID:20226292 PMID:25724123 PMID:26680607 PMID:27980540 PMID:28492532 More... NCBI chr 9:214,980...215,029 JBrowse link
G LOC130001438 ATAC-STARR-seq lymphoblastoid silent region 19723 IAGP ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 PMID:26680607 PMID:28492532 PMID:33290277 NCBI chr 9:215,200...215,339 JBrowse link
G LOC130001439 ATAC-STARR-seq lymphoblastoid active region 28115 IAGP ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:25640679 PMID:26680607 PMID:28492532 PMID:33290277 NCBI chr 9:281,730...281,989 JBrowse link
G LOC130001440 ATAC-STARR-seq lymphoblastoid active region 28116 IAGP ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:25640679 PMID:26680607 PMID:28492532 PMID:33290277 NCBI chr 9:282,160...282,209 JBrowse link
G ZNG1A Zn regulated GTPase metalloprotein activator 1A IAGP ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE ClinVar PMID:33290277 NCBI chr 9:120,837...179,056
Ensembl chr 9:120,837...179,147 		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 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive
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		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29907690 PMID:29907691 NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269 		JBrowse link
G ZNF341-AS1 ZNF341 antisense RNA 1 IAGP 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 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:33,787,373...33,811,099
Ensembl chr20:33,787,373...33,812,321 		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 IAGP 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
ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28747427 More... NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		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 IAGP 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 chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G DMRT1 doublesex and mab-3 related transcription factor 1 IAGP ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome ClinVar PMID:28492532 NCBI chr 9:841,697...969,090
Ensembl chr 9:841,690...969,090 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP
EXP		 ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
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 Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9536098 PMID:14722525 PMID:16199547 PMID:16391785 PMID:17576681 More... NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G DOCK8-AS1 DOCK8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
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: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
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 PMID:9536098 PMID:14722525 PMID:16199547 PMID:17576681 PMID:19776401 More... NCBI chr 9:213,457...215,750
Ensembl chr 9:212,824...215,893 		JBrowse link
G DOP1A DOP1 leucine zipper like protein A IAGP ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 6:83,067,671...83,171,350
Ensembl chr 6:83,067,666...83,171,350 		JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 IAGP 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 9:470,295...746,103
Ensembl chr 9:470,291...746,105 		JBrowse link
G LOC110120718 VISTA enhancer hs628 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:33290277 NCBI chr 9:159,657...160,780 JBrowse link
G LOC126860552 BRD4-independent group 4 enhancer GRCh37_chr9:285795-286994 IAGP ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome
ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive		 ClinVar PMID:9536098 PMID:14722525 PMID:17576681 PMID:19776401 PMID:22476911 More... NCBI chr 9:285,795...286,994 JBrowse link
G LOC130001435 ATAC-STARR-seq lymphoblastoid silent region 19720 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar Annotator: match by term: Hyper-IgE syndrome		 ClinVar PMID:25741868 PMID:26680607 PMID:33290277 NCBI chr 9:214,620...214,869 JBrowse link
G LOC130001436 ATAC-STARR-seq lymphoblastoid silent region 19721 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:25741868 PMID:26680607 PMID:33290277 NCBI chr 9:214,880...214,929 JBrowse link
G LOC130001437 ATAC-STARR-seq lymphoblastoid silent region 19722 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive		 ClinVar PMID:9536098 PMID:14722525 PMID:17576681 PMID:19776401 PMID:20226292 More... NCBI chr 9:214,980...215,029 JBrowse link
G LOC130001438 ATAC-STARR-seq lymphoblastoid silent region 19723 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome		 ClinVar PMID:14722525 PMID:19776401 PMID:22476911 PMID:25741868 PMID:26680607 More... NCBI chr 9:215,200...215,339 JBrowse link
G LOC130001439 ATAC-STARR-seq lymphoblastoid active region 28115 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome		 ClinVar PMID:14722525 PMID:19776401 PMID:22476911 PMID:25640679 PMID:26680607 More... NCBI chr 9:281,730...281,989 JBrowse link
G LOC130001440 ATAC-STARR-seq lymphoblastoid active region 28116 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive hyper-IgE syndrome		 ClinVar PMID:14722525 PMID:19776401 PMID:22476911 PMID:25640679 PMID:26680607 More... NCBI chr 9:282,160...282,209 JBrowse link
G PGM3 phosphoglucomutase 3 IAGP ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672 PMID:24698316 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 EXP
IAGP		 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 chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G ZNG1A Zn regulated GTPase metalloprotein activator 1A IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive ClinVar PMID:33290277 NCBI chr 9:120,837...179,056
Ensembl chr 9:120,837...179,147 		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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242 		JBrowse link
G CD40 CD40 molecule EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G UNG uracil DNA glycosylase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr12:109,097,597...109,110,992
Ensembl chr12:109,097,597...109,126,725 		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 IAGP 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 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		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 IAGP ClinVar Annotator: match by term: Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections OMIM
ClinVar		 PMID:36884218 PMID:37316763 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		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 IAGP ClinVar Annotator: match by term: Periodic fever Dutch type
ClinVar Annotator: match by term: Hyperimmunoglobulinemia D		 ClinVar PMID:23707710 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:109,553,715...109,573,504
Ensembl chr12:109,553,715...109,573,580 		JBrowse link
G MVK mevalonate kinase IAGP ClinVar Annotator: match by term: Periodic fever Dutch type
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 chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		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 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,572,671...10,587,312
Ensembl chr19:10,572,671...10,587,315 		JBrowse link
G ATG4D autophagy related 4D cysteine peptidase IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,543,904...10,553,418
Ensembl chr19:10,543,895...10,553,418 		JBrowse link
G CDC37 cell division cycle 37, HSP90 cochaperone IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:10,391,133...10,403,542
Ensembl chr19:10,391,090...10,420,121 		JBrowse link
G CDKN2D cyclin dependent kinase inhibitor 2D IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,566,460...10,568,979
Ensembl chr19:10,566,460...10,569,059 		JBrowse link
G DNM2 dynamin 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G FDX2 ferredoxin 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G ICAM3 intercellular adhesion molecule 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:10,333,776...10,339,624
Ensembl chr19:10,333,776...10,339,661 		JBrowse link
G ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:10,286,955...10,288,520
Ensembl chr19:10,286,955...10,288,522 		JBrowse link
G ICAM5 intercellular adhesion molecule 5 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:10,289,952...10,296,778
Ensembl chr19:10,289,952...10,296,778 		JBrowse link
G ILF3 interleukin enhancer binding factor 3 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,654,346...10,692,400
Ensembl chr19:10,654,304...10,692,400 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G KRI1 KRI1 homolog IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,553,085...10,566,010
Ensembl chr19:10,553,085...10,566,031 		JBrowse link
G MIR199A1 microRNA 199a-1 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,817,426...10,817,496
Ensembl chr19:10,817,426...10,817,496 		JBrowse link
G MRPL4 mitochondrial ribosomal protein L4 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:10,251,951...10,260,055
Ensembl chr19:10,251,901...10,260,055 		JBrowse link
G PDE4A phosphodiesterase 4A IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:10,416,773...10,469,631
Ensembl chr19:10,416,773...10,469,630 		JBrowse link
G QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,701,439...10,713,365
Ensembl chr19:10,701,430...10,713,437 		JBrowse link
G RAVER1 ribonucleoprotein, PTB binding 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:10,316,212...10,333,529
Ensembl chr19:10,316,212...10,333,529 		JBrowse link
G S1PR2 sphingosine-1-phosphate receptor 2 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:10,221,433...10,231,331
Ensembl chr19:10,221,433...10,231,331 		JBrowse link
G S1PR5 sphingosine-1-phosphate receptor 5 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,512,742...10,517,965
Ensembl chr19:10,512,742...10,517,931 		JBrowse link
G SLC44A2 solute carrier family 44 member 2 (CTL2 blood group) IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:28492532 NCBI chr19:10,602,455...10,644,557
Ensembl chr19:10,602,457...10,644,557 		JBrowse link
G TYK2 tyrosine kinase 2 IAGP
EXP		 ClinVar Annotator: match by term: Immunodeficiency 35
ClinVar Annotator: match by term: Immunodeficiency 35 | ClinVar Annotator: match by term: Susceptibility to infection due to TYK2 deficiency | ClinVar Annotator: match by term: TYK2 DEFICIENCY
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:14500783 PMID:16199547 PMID:17088085 PMID:17576681 More... NCBI chr19:10,350,533...10,380,572
Ensembl chr19:10,350,528...10,380,608 		JBrowse link
G ZGLP1 zinc finger GATA like protein 1 IAGP ClinVar Annotator: match by term: Immunodeficiency 35 ClinVar PMID:22402565 PMID:26304966 PMID:28492532 NCBI chr19:10,304,803...10,309,815
Ensembl chr19:10,304,803...10,309,880 		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 IAGP ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3
ClinVar Annotator: match by term: CD40-related condition | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3
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		 ClinVar
OMIM		 PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 More... NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G LOC127893450 CRISPRi-FlowFISH-validated CD40 regulatory element GRCh37_chr20:44746135-44748232 IAGP ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3		 ClinVar PMID:12593727 PMID:14611700 PMID:15272925 PMID:15307939 PMID:15731360 More... NCBI chr20:46,117,496...46,119,593 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 IAGP ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:28492532 NCBI chr12:109,111,189...109,268,226
Ensembl chr12:109,116,587...109,268,226 		JBrowse link
G LOC130008712 ATAC-STARR-seq lymphoblastoid silent region 4838 IAGP ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 ClinVar PMID:12958596 PMID:16199547 PMID:28492532 NCBI chr12:109,097,776...109,098,165 JBrowse link
G UNG uracil DNA glycosylase IAGP ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5
ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 5 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 5		 ClinVar
OMIM		 PMID:9536098 PMID:12958596 PMID:15967827 PMID:16199547 PMID:17029639 More... NCBI chr12:109,097,597...109,110,992
Ensembl chr12:109,097,597...109,126,725 		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 IAGP
ISS		 ClinVar Annotator: match by term: Hyper-IgM syndrome type 2
OMIM:605258		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11007475 PMID:11112359 PMID:12715918 PMID:12910268 More... NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242 		JBrowse link
G CLEC4D C-type lectin domain family 4 member D IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr12:8,513,503...8,531,696
Ensembl chr12:8,509,475...8,522,366 		JBrowse link
G CLEC4E C-type lectin domain family 4 member E IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr12:8,533,275...8,540,905
Ensembl chr12:8,533,305...8,540,905 		JBrowse link
G CLEC6A C-type lectin domain containing 6A IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 ClinVar PMID:16964591 PMID:28492532 NCBI chr12:8,455,962...8,478,330
Ensembl chr12:8,455,962...8,478,330 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 2 ClinVar PMID:16007086 PMID:16007087 PMID:17392798 PMID:18981294 PMID:21547394 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		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 IAGP 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:136,300,963...136,416,890
Ensembl chr  X:136,300,963...136,416,890 		JBrowse link
G AICDA activation induced cytidine deaminase IAGP ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242 		JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 IAGP 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:136,665,550...136,780,932
Ensembl chr  X:136,665,547...136,780,932 		JBrowse link
G BRS3 bombesin receptor subtype 3 IAGP 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:136,487,947...136,493,780
Ensembl chr  X:136,487,947...136,493,780 		JBrowse link
G CD40 CD40 molecule IAGP ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand IAGP 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:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP 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:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP 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:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G HTATSF1 HIV-1 Tat specific factor 1 IAGP 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:136,497,229...136,512,346
Ensembl chr  X:136,497,079...136,512,346 		JBrowse link
G LOC127893450 CRISPRi-FlowFISH-validated CD40 regulatory element GRCh37_chr20:44746135-44748232 IAGP ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr20:46,117,496...46,119,593 JBrowse link
G LOC130068753 ATAC-STARR-seq lymphoblastoid silent region 21028 IAGP ClinVar Annotator: match by term: Hyper-IgM syndrome type 1 ClinVar PMID:15358621 PMID:16019685 PMID:28492532 NCBI chr  X:136,658,307...136,658,356 JBrowse link
G MAP7D3 MAP7 domain containing 3 IAGP 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:136,213,220...136,256,482
Ensembl chr  X:136,213,220...136,256,482 		JBrowse link
G RBMX RNA binding motif protein X-linked IAGP 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:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP 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:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G UNG uracil DNA glycosylase IAGP ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome ClinVar NCBI chr12:109,097,597...109,110,992
Ensembl chr12:109,097,597...109,126,725 		JBrowse link
G VGLL1 vestigial like family member 1 IAGP 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:136,532,215...136,556,799
Ensembl chr  X:136,532,215...136,556,807 		JBrowse link
G ZIC3 Zic family member 3 IAGP 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:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    syndrome 29823
      primary immunodeficiency disease 12599
        B cell deficiency 757
          hyperimmunoglobulin syndrome 82
            CD40 ligand deficiency + 5
            hyper IgE syndrome + 54
            hyper IgM syndrome + 23
            hyperimmunoglobulinemia D periodic fever syndrome 2
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      Immune & Inflammatory Diseases 18495
        immune system disease 15075
          primary immunodeficiency disease 12599
            B cell deficiency 757
              selective immunoglobulin deficiency disease 125
                dysgammaglobulinemia 125
                  hyperimmunoglobulin syndrome 82
                    CD40 ligand deficiency + 5
                    hyper IgE syndrome + 54
                    hyper IgM syndrome + 23
                    hyperimmunoglobulinemia D periodic fever syndrome 2
paths to the root