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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. (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
 primary_id: MESH:D020031
 alt_id: DOID:9000509
 xref: EFO:0000769;   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 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Cd163 CD163 molecule ISO associated with Hodgkin's lymphoma;protein:increased expression:macrophage (human) RGD PMID:21602260 RGD:40925915 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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 chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
JBrowse link
G Cd8a CD8 subunit alpha ISO associated with stomach cancer;mRNA:increased expression:stomach (human) RGD PMID:29155997 RGD:124715448 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO associated with adult T-cell leukemia; RGD PMID:18246047 RGD:38548918 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
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 chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G Mir146a microRNA 146a exacerbates ISO associated with respiratory allergy;miRNA:increased expression:blood serum (human) RGD PMID:31322518 RGD:126925156 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Pten phosphatase and tensin homolog ISO associated with stomach carcinoma;DNA:hypermethylation:promoter (human) RGD PMID:19339266 RGD:127285616 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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 chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
JBrowse link
G Tp73 tumor protein p73 ISO associated with stomach carcinoma;DNA:hypermethylation:promoter (human) RGD PMID:23829175 RGD:151347586 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Bbc3 Bcl-2 binding component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chr 1:77,013,281...77,022,509
Ensembl chr 1:77,014,543...77,022,509
JBrowse link
G Bcl2l2 Bcl2-like 2 ISO mRNA:increased expression:lymph node RGD PMID:28094768 RGD:14394511 NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
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 chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
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 chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
JBrowse link
G Cct6b chaperonin containing TCP1 subunit 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:67,652,461...67,701,385
Ensembl chr10:67,652,546...67,701,284
JBrowse link
G Cd40 CD40 molecule treatment ISO human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd79b CD79b molecule treatment ISO human cells in mouse model RGD PMID:17374736 RGD:151665154 NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
JBrowse link
G Gna13 G protein subunit alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:94,337,939...94,370,774
Ensembl chr10:94,337,725...94,370,774
JBrowse link
G Id3 inhibitor of DNA binding 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143595 PMID:23143597 NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349
JBrowse link
G Mir21 microRNA 21 treatment ISO RGD PMID:27991481 RGD:41404643 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mir23b microRNA 23b treatment ISO RGD PMID:27991481 RGD:41404643 NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763
JBrowse link
G Mllt11 MLLT11, transcription factor 7 cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31587870 NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO
ISS
DNA:mutations:exons:multiple (human)
ClinVar Annotator: match by term: Burkitt lymphoma
CTD Direct Evidence: marker/mechanism
OMIM:113970
OMIM
ClinVar
CTD
MouseDO
RGD
PMID:8220424 PMID:25157968 PMID:27993330 PMID:8220424 PMID:8397370 RGD:1601453, RGD:10059619 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Pbx1 PBX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chr13:80,278,766...80,588,563
Ensembl chr13:80,278,770...80,588,594
JBrowse link
G Pc pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789
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 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Tcf3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO protein:increased expression:lymphocyte, serum: RGD PMID:11185989 RGD:11049152 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Foxp3 forkhead box P3 disease_progression ISO RGD PMID:23628056 RGD:38501103 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Il27 interleukin 27 ISO protein:increased expression:blood serum (human) RGD PMID:33571934 RGD:126790542 NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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 chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:7964476 RGD:11035288 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
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:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
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:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 More... NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699
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:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease by infectious agent 2214
      viral infectious disease 1680
        Tumor Virus Infections 115
          Epstein-Barr virus infectious disease 47
            Burkitt lymphoma + 24
            EPSTEIN-BARR VIRUS INSERTION SITE 1 0
            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 21128
    disease by infectious agent 2214
      viral infectious disease 1680
        DNA Virus Infections 306
          Herpesviridae Infections 177
            Epstein-Barr virus infectious disease 47
              Burkitt lymphoma + 24
              EPSTEIN-BARR VIRUS INSERTION SITE 1 0
              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