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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:Tumor Virus Infections
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Accession:DOID:9004886 term browser browse the term
Definition:Infections produced by oncogenic viruses. The infections caused by DNA viruses are less numerous but more diverse than those caused by the RNA oncogenic viruses.
Synonyms:exact_synonym: Shope Fibroma;   Shope Papilloma;   Tumor Virus Infection
 primary_id: MESH:D014412


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anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Cd8a CD8 subunit alpha ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Ifna1 interferon, alpha 1 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925 		JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il12b interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903 		JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558 		JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984 		JBrowse link
G Serpinf1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754 		JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:27,091,780...27,116,092
Ensembl chr  X:27,091,778...27,116,549 		JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353 		JBrowse link
Avian Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhob ras homolog family member B IDA RGD PMID:1710770 RGD:704375 NCBI chr 6:31,363,752...31,365,926
Ensembl chr 6:31,363,548...31,366,108 		JBrowse link
bowenoid papulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc2 baculoviral IAP repeat-containing 2 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		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		 OMIM:113970
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Burkitt lymphoma
DNA:mutations:exons:multiple (human)		 MouseDO
CTD
ClinVar
OMIM
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 BAF chromatin remodeling complex subunit ATPase 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
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel like 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis		 CTD
ClinVar		 PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More... NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960 		JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More... NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590 		JBrowse link
G Tnrc6c trinucleotide repeat containing adaptor 6C ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr10:102,908,958...102,979,543
Ensembl chr10:102,868,828...102,978,194 		JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel like 6 susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition ClinVar
OMIM		 PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More... NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960 		JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 ClinVar PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 More... NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590 		JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel like 6 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960 		JBrowse link
G Tmc8 transmembrane channel-like 8 susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis 2 | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 OMIM
ClinVar		 PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 More... NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590 		JBrowse link
Epidermodysplasia Verruciformis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib1 calcium and integrin binding 1 susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 OMIM
ClinVar		 PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 More... NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423 		JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoh ras homolog family member H susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 OMIM
ClinVar		 PMID:22850876 PMID:25741868 PMID:28492532 NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369 		JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il7 interleukin 7 susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 OMIM
ClinVar		 PMID:25981006 NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075 		JBrowse link
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
IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis OMIM
ClinVar		 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685 		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
Merkel cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd68 Cd68 molecule ISO protein:increased expression:tumor (human) RGD PMID:22050913 RGD:40925916 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639 		JBrowse link
Murine Acquired Immunodeficiency Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apobec3 apolipoprotein B mRNA editing enzyme catalytic subunit 3 disease_progression ISO associated with Arterivirus Infections RGD PMID:23725696 RGD:40902617 NCBI chr 7:111,433,789...111,453,032
Ensembl chr 7:111,433,764...111,452,922 		JBrowse link
G Cd40 CD40 molecule susceptibility ISO RGD PMID:12438641 RGD:11520795 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:8642687 RGD:11520796 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:23415673 RGD:7364815 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO protein:decreased expression:lymph node (mouse) RGD PMID:10429205 RGD:127285021 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Rnasel ribonuclease L ISO associated with Arterivirus Infections RGD PMID:23725696 RGD:40902617 NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704 		JBrowse link
papillomavirus infectious disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific exacerbates ISO associated with human immunodeficiency virus infectious disease;DNA:SNPs, haplotype:introns, 3' utr: multiple (human) RGD PMID:31882741 RGD:125097510 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282 		JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Ccna1 cyclin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr 2:139,231,738...139,278,066
Ensembl chr 2:139,201,074...139,243,157 		JBrowse link
G Ccng1 cyclin G1 disease_progression ISO associated with cervix carcinoma; protein:increased expression:cervix (human) RGD PMID:16845792 RGD:2316022 NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641 		JBrowse link
G Cd274 CD274 molecule ISO associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell RGD PMID:23521696 RGD:40822817 NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO associated with Cervical Intraepithelial Neoplasms;protein:increased expression:uterine cervix
associated with Cervix Neoplasms;protein:increased expression:uterine cervix		 RGD PMID:16415792 PMID:16406113 RGD:2296057, RGD:2296058 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Egfr epidermal growth factor receptor disease_progression ISO associated with squamous cell carcinoma RGD PMID:31430224 RGD:38599177 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO associated with head and neck squamous cell carcinoma;DNA:missense mutation:cds: p.S249C (human) RGD PMID:25056374 RGD:38500237 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:SNP::rs3761548(human) RGD PMID:31177386 RGD:38501104 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 ISO DNA:deletion RGD PMID:16360200 RGD:2293831 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO RGD PMID:30935248 RGD:39938848 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Mir20a microRNA 20a ISO associated with oral squamous cell carcinoma RGD PMID:26781875 RGD:26884343 NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168 		JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase no_association ISO DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) RGD PMID:23444906 RGD:38501058 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mx1 MX dynamin like GTPase 1 exacerbates ISO protein:increased expression:body wart (human) RGD PMID:28736973 RGD:126777683 NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507 		JBrowse link
G Pten phosphatase and tensin homolog ISO associated with tonsil cancer;protein:increased expression:tonsil (human)
associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human)		 RGD PMID:24616007 PMID:28945300 RGD:127285601 RGD:127285613 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO RGD PMID:12918070 PMID:12941545 PMID:19272325 RGD:2314694, RGD:2314693, RGD:2306228 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 susceptibility ISO associated with cervical cancer;DNA:polymorphism: :HLA-DPB1*040101 (human) RGD PMID:17349874 RGD:150429811 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
G Tlr3 toll-like receptor 3 resistance ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:20473890 RGD:5129102 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Tlr9 toll-like receptor 9 resistance ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:20473890 RGD:5129102 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
G Vamp7 vesicle-associated membrane protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr12:16,728,486...16,764,261
Ensembl chr12:16,728,524...16,764,097 		JBrowse link
Recurrent Respiratory Papillomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 molecule ISO protein:increased expression: larynx RGD PMID:22322668 RGD:40822813 NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:SNPs:promoter:rs5902434,rs2232365 (human) RGD PMID:28298239 RGD:38549360 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838 		JBrowse link
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital ClinVar
OMIM		 PMID:17377159 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31484767 NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180 		JBrowse link
G Pdcd1 programmed cell death 1 ISO RGD PMID:22322668 RGD:40822813 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0602 (human)
DNA:polymorphism: :HLA-DQB1*0602(human)		 RGD PMID:15336778 PMID:19861144 RGD:5147657, RGD:36174013 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*0102 (human) RGD PMID:15336778 RGD:5147657 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member severity ISO DNA:polymorphism:cds:p.D637G(human) RGD PMID:14976605 RGD:5147844 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
skin papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:21715145 RGD:7483622 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Clu clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO protein:increased expression:skin (mouse) RGD PMID:24582960 RGD:126928134 NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866 		JBrowse link
G Mir21 microRNA 21 ameliorates ISO RGD PMID:21646541 RGD:41404663 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Nrg1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
WHIM syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 ISO
ISS		 DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1
OMIM:193670
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More... RGD:734860 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		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 OMIM
ClinVar		 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 19100
    disease by infectious agent 2253
      viral infectious disease 1717
        Tumor Virus Infections 108
          Avian Leukosis 0
          Avian Sarcoma 1
          Epstein-Barr virus infectious disease + 47
          Marek Disease 0
          Merkel cell carcinoma 4
          Murine Acquired Immunodeficiency Syndrome 6
          Ovine Pulmonary Adenomatosis 0
          papillomavirus infectious disease + 62
paths to the root