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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 infectious disease
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Accession:DOID:2938 term browser browse the term
Definition:A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4). (DO)
Synonyms:exact_synonym: EBV Infection;   EBV Infections;   Epstein-Barr Virus Infections;   Epstein-Barr virus infection;   Human Herpes Virus 4 Infections;   Human Herpesvirus 4 Infections
 related_synonym: EBVS1;   EPSTEIN-BARR VIRUS INSERTION SITE 1
 alt_id: DOID:9000509
 xref: EFO:0000769;   MESH:D020031;   MIM:132850;   MONDO:0005111;   NCI:C38759
For additional species annotation, visit the Alliance of Genome Resources.


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Epstein-Barr virus infectious disease 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 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356 		JBrowse link
G Cd163 CD163 molecule ISO associated with Hodgkin's lymphoma;protein:increased expression:macrophage (human) RGD PMID:21602260 RGD:40925915 NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146 		JBrowse link
G Cd68 Cd68 molecule severity ISO associated with Hodgkin's Lymphoma;protein:increased expression:tumor (human)
associated with Hodgkin's Lymphoma;protein:increased expression:tumor(human) 		RGD PMID:21602260 PMID:21071500 RGD:40925915, RGD:40925944 NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540 		JBrowse link
G Cd8a CD8 subunit alpha ISO associated with stomach cancer;mRNA:increased expression:stomach (human) RGD PMID:29155997 RGD:124715448 NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:104,900,833...104,928,358 		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 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO associated with adult T-cell leukemia; RGD PMID:18246047 RGD:38548918 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:17,580,380...17,595,894 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO associated with Hodgkin's lymphoma;mRNA, protein:increased expression:lymph node (human) RGD PMID:25041527 RGD:127285814 NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,058,492...11,097,182 		JBrowse link
G Mir146a microRNA 146a exacerbates ISO associated with respiratory allergy;miRNA:increased expression:blood serum (human) RGD PMID:31322518 RGD:126925156 NCBI chr10:28,349,996...28,350,090 JBrowse link
G Pten phosphatase and tensin homolog ISO associated with stomach carcinoma;DNA:hypermethylation:promoter (human) RGD PMID:19339266 RGD:127285616 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 susceptibility ISO associated with infectious mononucleosis, Hodgkin's lymphoma;DNA:polymorphism: :HLA-DPB1*0301 (human) RGD PMID:11401923 RGD:150429800 NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,776,547...4,781,574 		JBrowse link
G Tp73 tumor protein p73 ISO associated with stomach carcinoma;DNA:hypermethylation:promoter (human) RGD PMID:23829175 RGD:151347586 NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11482875 NCBI chr 7:116,248,571...116,272,917
Ensembl chr 7:116,247,880...116,273,171 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G Bbc3 Bcl-2 binding component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chr 1:86,141,450...86,150,666
Ensembl chr 1:86,141,603...86,150,666 		JBrowse link
G Bcl2l2 Bcl2-like 2 ISO mRNA:increased expression:lymph node RGD PMID:28094768 RGD:14394511 NCBI chr15:32,326,686...32,337,834
Ensembl chr15:32,326,020...32,335,379 		JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Burkitt lymphoma ClinVar PMID:17262179 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31911673 More... NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763 		JBrowse link
G Btk Bruton tyrosine kinase ameliorates
treatment 		ISO Human cell line in a mouse model
mRNA:increased expression:multiple (human) 		RGD PMID:28474336 PMID:30546948 RGD:124713565, RGD:124715474 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:102,016,074...102,055,143 		JBrowse link
G Calr calreticulin treatment ISO human cells and recombinant protein in a mouse model
human cell line and recombinant protein in a mouse model 		RGD PMID:9858521 PMID:10961892 RGD:150521687, RGD:150521702 NCBI chr19:40,213,367...40,218,262
Ensembl chr19:40,213,239...40,219,236 		JBrowse link
G Cct6b chaperonin containing TCP1 subunit 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:68,150,111...68,198,932
Ensembl chr10:68,150,111...68,198,847 		JBrowse link
G Cd40 CD40 molecule treatment ISO human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847 		JBrowse link
G Cd79b CD79b molecule treatment ISO human cells in mouse model RGD PMID:17374736 RGD:151665154 NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,739,137...91,742,405 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,054,711...12,068,237 		JBrowse link
G Gna13 G protein subunit alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:94,837,271...94,870,290
Ensembl chr10:94,836,444...94,874,968 		JBrowse link
G Id3 inhibitor of DNA binding 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143595 PMID:23143597 NCBI chr 5:153,656,253...153,657,860
Ensembl chr 5:153,630,498...153,657,856 		JBrowse link
G Mir21 microRNA 21 treatment ISO RGD PMID:27991481 RGD:41404643 NCBI chr10:71,902,600...71,902,691 JBrowse link
G Mir23b microRNA 23b treatment ISO RGD PMID:27991481 RGD:41404643 NCBI chr17:1,819,386...1,819,482 JBrowse link
G Mllt11 MLLT11, transcription factor 7 cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31587870 NCBI chr 2:185,484,791...185,493,961
Ensembl chr 2:185,484,793...185,493,961 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO
ISS 		DNA:mutations:exons:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM:113970
ClinVar Annotator: match by term: Burkitt lymphoma | ClinVar Annotator: match by term: MYC-related condition 		OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:8220424 PMID:25741868 PMID:27993330 PMID:32934698 PMID:8220424 More... RGD:1601453, RGD:10059619 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028 		JBrowse link
G Pbx1 PBX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chr13:82,811,664...83,121,447
Ensembl chr13:82,812,131...83,121,066 		JBrowse link
G Pc pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:211,228,731...211,329,940 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:34,612,946...34,626,347 		JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:152,998,812...153,040,556 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr18:76,680,997...76,700,905
Ensembl chr18:76,681,005...76,700,905 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,928,685...9,953,044 		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 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104 		JBrowse link
G Faslg Fas ligand ISO protein:increased expression:lymphocyte, serum: RGD PMID:11185989 RGD:11049152 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503 		JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO RGD PMID:23628056 RGD:38501103 NCBI chr  X:17,580,380...17,601,181
Ensembl chr  X:17,580,380...17,595,894 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Il27 interleukin 27 ISO protein:increased expression:blood serum (human) RGD PMID:33571934 RGD:126790542 NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism:cds:HLA-DRB1*0101 (human) RGD PMID:21482926 RGD:40818406 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:7964476 RGD:11035288 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		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: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:24550228 PMID:28492532 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:28492532 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:24550228 PMID:28492532 NCBI chr  X:75,149,036...75,155,285
Ensembl chr  X:75,148,996...75,155,284 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 More... NCBI chr  X:75,104,040...75,145,247
Ensembl chr  X:75,106,172...75,145,365 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ClinVar PMID:28492532 NCBI chr  X:75,336,988...75,352,962
Ensembl chr  X:75,336,687...75,352,959 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease by infectious agent 2257
      viral infectious disease 1722
        Tumor Virus Infections 108
          Epstein-Barr virus infectious disease 47
            Burkitt lymphoma + 24
            Epstein-Barr virus hepatitis 0
            X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 5
            infectious mononucleosis 8
            oral hairy leukoplakia 0
Path 2
Term Annotations click to browse term
  disease 19167
    disease by infectious agent 2257
      viral infectious disease 1722
        DNA Virus Infections 347
          Herpesviridae Infections 226
            Epstein-Barr virus infectious disease 47
              Burkitt lymphoma + 24
              Epstein-Barr virus hepatitis 0
              X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 5
              infectious mononucleosis 8
              oral hairy leukoplakia 0
paths to the root