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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:hyper IgE syndrome
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Accession:DOID:0080545 term browser browse the term
Definition:A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. (DO)
Synonyms:exact_synonym: HIE Syndrome;   HIE syndromes;   Hyper-IgE Syndromes;   Hyperimmunoglobulinemia E Syndrome;   Hyperimmunoglobulinemia E Syndromes;   hyper immunoglobulin E syndrome;   hyperimmunoglobulin E recurrent infection syndrome;   hyperimmunoglobulin E syndrome
 narrow_synonym: Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive;   Hyper IgE Syndrome, Autosomal Recessive;   autosomal recessive HIES;   hyper immunoglobulin E syndrome, autosomal recessive;   hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
 primary_id: MESH:D007589
 xref: GARD:10956;   MIM:PS147060;   NCI:C3144


show annotations for term's descendants           Sort by:
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: 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: 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: 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: 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: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 Annotator: match by term: Autosomal recessive hyper-IgE syndrome		 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 Annotator: match by term: Autosomal recessive hyper-IgE syndrome | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome, autosomal recessive		 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 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 EFCAB13-DT EFCAB13 divergent transcript IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:9351872 PMID:20106508 PMID:21917754 PMID:25741868 PMID:28492532 NCBI chr17:47,303,443...47,323,901
Ensembl chr17:47,279,525...47,492,672 		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 ITGB3 integrin subunit beta 3 IAGP ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:9351872 PMID:20106508 PMID:21917754 PMID:25741868 PMID:28492532 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		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: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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
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: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: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
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 recurrent infection syndrome 3, autosomal recessive | ClinVar Annotator: match by term: ZNF341-related condition		 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: ZNF341-related condition
ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 3, autosomal recessive | ClinVar Annotator: match by term: ZNF341-related condition		 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 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
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 53596
    syndrome 25122
      primary immunodeficiency disease 7722
        phagocyte bactericidal dysfunction 217
          hyper IgE syndrome 56
            Hyper-IgE Recurrent Infection Syndrome 5 1
            Hyper-IgE Recurrent Infection Syndrome 6 1
            hyper IgE recurrent infection syndrome 1 11
            hyper IgE recurrent infection syndrome 2 13
            hyper IgE recurrent infection syndrome 3 2
            hyper IgE recurrent infection syndrome 4 1
            immunodeficiency 35 24
Path 2
Term Annotations click to browse term
  disease 53596
    disease of anatomical entity 49284
      Immune & Inflammatory Diseases 10317
        immune system disease 8784
          primary immunodeficiency disease 7722
            B cell deficiency 731
              selective immunoglobulin deficiency disease 95
                dysgammaglobulinemia 95
                  hyperimmunoglobulin syndrome 85
                    hyper IgE syndrome 56
                      Hyper-IgE Recurrent Infection Syndrome 5 1
                      Hyper-IgE Recurrent Infection Syndrome 6 1
                      hyper IgE recurrent infection syndrome 1 11
                      hyper IgE recurrent infection syndrome 2 13
                      hyper IgE recurrent infection syndrome 3 2
                      hyper IgE recurrent infection syndrome 4 1
                      immunodeficiency 35 24
paths to the root