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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:Epstein-Barr Virus Infections
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Accession:DOID:9000509 term browser browse the term
Definition:Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY).
Synonyms:exact_synonym: EBV Infection;   EBV Infections;   Human Herpes Virus 4 Infections;   Human Herpesvirus 4 Infections
 primary_id: MESH:D020031;   RDO:0005082
For additional species annotation, visit the Alliance of Genome Resources.


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Epstein-Barr Virus Infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO associated with malaria;mRNA:increased expression:B cell
mRNA:increased expression:T cell, natural killer cell
RGD PMID:25099163, PMID:21697063 RGD:32716377, RGD:32716387 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 no_association ISO DNA:missense mutation:cds:(rs755793) (human) RGD PMID:29446487 RGD:38500242 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO associated with adult T-cell leukemia; RGD PMID:18246047 RGD:38548918 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
Burkitt lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase (P blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11482875 NCBI chr 7:124,085,832...124,110,440
Ensembl chr 7:124,085,834...124,089,385
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Bbc3 Bcl-2 binding component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chr 1:78,261,491...78,267,802 JBrowse link
G Bcl2l2 Bcl2-like 2 ISO mRNA:increased expression:lymph node RGD PMID:28094768 RGD:14394511 NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
JBrowse link
G Cct6b chaperonin containing TCP1 subunit 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:70,069,479...70,118,194
Ensembl chr10:70,069,491...70,118,194
JBrowse link
G Cd40 CD40 molecule treatment ISO human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
JBrowse link
G Gna13 G protein subunit alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:97,647,196...97,680,030
Ensembl chr10:97,647,111...97,684,730
JBrowse link
G Id3 inhibitor of DNA binding 3, HLH protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143595, PMID:23143597 NCBI chr 5:154,489,603...154,491,172
Ensembl chr 5:154,489,590...154,491,223
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Burkitt lymphoma
ClinVar Annotator: match by OMIM:113970
DNA:mutations:exons:multiple (human)
ClinVar
OMIM
PMID:8220424, PMID:25157968, PMID:8220424, PMID:8397370 RGD:1601453, RGD:10059619 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Pbx1 PBX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982, PMID:17244677 NCBI chr13:86,390,741...86,671,460
Ensembl chr13:86,390,741...86,451,002
JBrowse link
G Pc pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Burkitt lymphoma ClinVar PMID:15887099, PMID:18602922, PMID:20205264, PMID:22120844, PMID:22577899, PMID:23012243, PMID:23652311, PMID:24033266, PMID:24362816, PMID:24728189, PMID:24728327, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25980754, PMID:26116798, PMID:26318770, PMID:26467025, PMID:26681312, PMID:27017610, PMID:27037742, PMID:28492532, PMID:28562508, PMID:30155321 NCBI chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982, PMID:17244677 NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
JBrowse link
Familial Burkitt's Lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Familial Burkitt's lymphoma ClinVar PMID:15887099, PMID:18602922, PMID:20205264, PMID:22120844, PMID:22577899, PMID:23012243, PMID:23652311, PMID:24033266, PMID:24362816, PMID:24728189, PMID:24728327, PMID:25512458, PMID:25741868, PMID:25856668, PMID:25980754, PMID:26116798, PMID:26318770, PMID:26467025, PMID:26681312, PMID:27017610, PMID:27037742, PMID:28492532, PMID:28562508, PMID:30155321 NCBI chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641
JBrowse link
infectious mononucleosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fas Fas cell surface death receptor ISO protein:increased expression:monocyte, neutrophil, serum: RGD PMID:11185989 RGD:11049152 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO protein:increased expression:lymphocyte, serum: RGD PMID:11185989 RGD:11049152 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO RGD PMID:23628056 RGD:38501103 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:7964476 RGD:11035288 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia ClinVar PMID:28492532 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia ClinVar PMID:28492532 NCBI chr  X:77,065,427...77,071,676
Ensembl chr  X:77,065,397...77,071,676
JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
ClinVar Annotator: match by OMIM:300853
OMIM
ClinVar
PMID:21796205, PMID:24550228, PMID:25135935, PMID:25504528, PMID:25741868, PMID:25956530, PMID:28492532, PMID:31036665 NCBI chr  X:77,023,423...77,061,603
Ensembl chr  X:77,020,402...77,061,667
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease by infectious agent 1753
      viral infectious disease 1454
        Tumor Virus Infections 61
          Epstein-Barr Virus Infections 29
            Burkitt lymphoma + 18
            EPSTEIN-BARR VIRUS INSERTION SITE 1 0
            Epstein-Barr virus hepatitis 0
            X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 3
            infectious mononucleosis 6
            oral hairy leukoplakia 0
Path 2
Term Annotations click to browse term
  disease 16096
    disease by infectious agent 1753
      viral infectious disease 1454
        DNA Virus Infections 195
          Herpesviridae Infections 107
            Epstein-Barr Virus Infections 29
              Burkitt lymphoma + 18
              EPSTEIN-BARR VIRUS INSERTION SITE 1 0
              Epstein-Barr virus hepatitis 0
              X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 3
              infectious mononucleosis 6
              oral hairy leukoplakia 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.