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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 chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225 		JBrowse link
G CD8A CD8 subunit alpha ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr2A:86,832,559...86,855,772
Ensembl chr2A:88,377,722...88,382,635 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498 		JBrowse link
G FOXP3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029 		JBrowse link
G IFNA6 interferon alpha 6 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 9:21,211,046...21,211,734
Ensembl chr 9:21,828,719...21,829,288 		JBrowse link
G IL10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G IL12B interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381 		JBrowse link
G IL2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984 		JBrowse link
G IL21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915 		JBrowse link
G IL4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581 		JBrowse link
G IL6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G KLRK1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr10:45,806,748...45,936,362 JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274 		JBrowse link
G PDCD1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr12:130,849,353...130,858,776 JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830 		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 chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331 		JBrowse link
G TLR3 toll like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728 		JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711 		JBrowse link
G TLR7 toll like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:5,479,247...5,504,810
Ensembl chr  X:12,767,981...12,790,517 		JBrowse link
G TLR8 toll like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:5,518,742...5,535,304 JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714
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 ISO RGD PMID:1710770 RGD:704375 NCBI chr2A:20,433,576...20,435,986
Ensembl chr2A:20,549,254...20,549,844 		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 chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194 		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 (P1PK blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:11482875 NCBI chr22:23,587,378...23,615,467
Ensembl chr22:41,739,062...41,740,123 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G BBC3 BCL2 binding component 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18573879 NCBI chr19:44,203,517...44,215,860 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 chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815 		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:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187 		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 chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416 		JBrowse link
G CCT6B chaperonin containing TCP1 subunit 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr17:21,825,636...21,875,619
Ensembl chr17:22,117,492...22,152,205 		JBrowse link
G CD40 CD40 molecule treatment ISO human cell line in a mouse model RGD PMID:9192773 RGD:11520790 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994 		JBrowse link
G CD79B CD79b molecule treatment ISO human cells in mouse model RGD PMID:17374736 RGD:151665154 NCBI chr17:58,022,375...58,026,359
Ensembl chr17:63,116,722...63,120,335 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400 		JBrowse link
G GNA13 G protein subunit alpha 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr17:58,957,682...59,005,182 JBrowse link
G ID3 inhibitor of DNA binding 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143595 PMID:23143597 NCBI chr 1:22,748,714...22,750,582
Ensembl chr 1:23,734,263...23,736,175 		JBrowse link
G MLLT11 MLLT11 transcription factor 7 cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31587870 NCBI chr 1:126,408,533...126,417,624 JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Burkitt lymphoma OMIM
ClinVar		 PMID:8220424 PMID:25157968 PMID:27993330 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G PBX1 PBX homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 NCBI chr 1:139,985,392...140,311,845
Ensembl chr 1:143,778,701...144,104,797 		JBrowse link
G PC pyruvate carboxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr11:62,205,644...62,317,917
Ensembl chr11:65,527,662...65,551,396 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960 		JBrowse link
G RET ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331 		JBrowse link
G SALL3 spalt like transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23143597 NCBI chr18:72,381,249...72,403,789 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 chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		JBrowse link
G TCF3 transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1967982 PMID:17244677 Ensembl chr19:1,582,297...1,622,025 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 ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More... NCBI chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482 		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 chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013 		JBrowse link
G TNRC6C trinucleotide repeat containing adaptor 6C ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr17:72,035,737...72,185,489
Ensembl chr17:77,633,564...77,738,511 		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 chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482 		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 chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013 		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 chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482 		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 ClinVar
OMIM		 PMID:9536098 PMID:10084299 PMID:12426567 PMID:17576681 PMID:22158547 More... NCBI chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013 		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 ClinVar
OMIM		 PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 More... NCBI chr15:68,919,377...68,923,213 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 chr 4:34,517,487...34,569,934
Ensembl chr 4:40,419,549...40,420,124 		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 8:75,254,166...75,337,373
Ensembl chr 8:76,895,095...76,966,918 		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:21697063 PMID:25099163 RGD:32716377 RGD:32716387 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917 		JBrowse link
G CD163 CD163 molecule ISO associated with Hodgkin's lymphoma;protein:increased expression:multiple (human)
associated with Hodgkin's lymphoma;protein:increased expression:macrophage (human)		 RGD PMID:21071500 PMID:21602260 RGD:40925915 RGD:40925944 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023 		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:21071500 PMID:21602260 RGD:40925915 RGD:40925944 NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981 		JBrowse link
G CD8A CD8 subunit alpha ISO associated with stomach cancer;mRNA:increased expression:stomach (human) RGD PMID:29155997 RGD:124715448 NCBI chr2A:86,832,559...86,855,772
Ensembl chr2A:88,377,722...88,382,635 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 no_association ISO DNA:missense mutation:cds:(rs755793) (human) RGD PMID:29446487 RGD:38500242 NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G FOXP3 forkhead box P3 susceptibility ISO associated with adult T-cell leukemia; RGD PMID:18246047 RGD:38548918 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029 		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 chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963 		JBrowse link
G LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO associated with infectious mononucleosis, Hodgkin's lymphoma;DNA:polymorphism: :HLA-DPB1*0301 (human) RGD PMID:11401923 RGD:150429800 NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387 		JBrowse link
G PTEN phosphatase and tensin homolog ISO associated with stomach carcinoma;DNA:hypermethylation:promoter (human) RGD PMID:19339266 RGD:127285616 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G TP73 tumor protein p73 ISO associated with stomach carcinoma;DNA:hypermethylation:promoter (human) RGD PMID:23829175 RGD:151347586 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206 		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 chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G FASLG Fas ligand ISO protein:increased expression:lymphocyte, serum: RGD PMID:11185989 RGD:11049152 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281 		JBrowse link
G FOXP3 forkhead box P3 disease_progression ISO RGD PMID:23628056 RGD:38501103 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:22537952 RGD:10450797 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G IL27 interleukin 27 ISO protein:increased expression:blood serum (human) RGD PMID:33571934 RGD:126790542
G SOD2 superoxide dismutase 2 ISO RGD PMID:7964476 RGD:11035288 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		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 chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G SPA17 sperm autoantigenic protein 17 ISO mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr11:119,501,604...119,526,103
Ensembl chr11:123,416,725...123,437,818 		JBrowse link
Murine Acquired Immunodeficiency Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOBEC3H apolipoprotein B mRNA editing enzyme catalytic subunit 3H disease_progression ISO associated with Arterivirus Infections RGD PMID:23725696 RGD:40902617 NCBI chr22:20,003,585...20,010,741
Ensembl chr22:37,821,315...37,828,153 		JBrowse link
G CD40 CD40 molecule susceptibility ISO RGD PMID:12438641 RGD:11520795 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994 		JBrowse link
G CD40LG CD40 ligand treatment ISO RGD PMID:8642687 RGD:11520796 NCBI chr  X:125,776,138...125,788,820
Ensembl chr  X:136,042,849...136,058,202 		JBrowse link
G IL10 interleukin 10 ISO RGD PMID:23415673 RGD:7364815 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO protein:decreased expression:lymph node (mouse) RGD PMID:10429205 RGD:127285021 NCBI chr14:16,155,331...16,158,588 JBrowse link
G RNASEL ribonuclease L ISO associated with Arterivirus Infections RGD PMID:23725696 RGD:40902617 NCBI chr 1:158,092,346...158,108,026
Ensembl chr 1:161,741,645...161,760,045 		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 1:129,937,993...129,983,747 JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468 		JBrowse link
G CCNA1 cyclin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr13:17,649,064...17,660,550
Ensembl chr13:36,080,331...36,092,078 		JBrowse link
G CCNG1 cyclin G1 disease_progression ISO associated with cervix carcinoma; protein:increased expression:cervix (human) RGD PMID:16845792 RGD:2316022 NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728 		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 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402 		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:16406113 PMID:16415792 RGD:2296057 RGD:2296058 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G EGFR epidermal growth factor receptor disease_progression ISO associated with squamous cell carcinoma RGD PMID:31430224 RGD:38599177 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615 		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 chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
G FOXP3 forkhead box P3 susceptibility ISO DNA:SNP::rs3761548(human) RGD PMID:31177386 RGD:38501104 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO DNA:deletion RGD PMID:16360200 RGD:2293831 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO RGD PMID:30935248 RGD:39938848
G LOC100995226 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO associated with cervical cancer;DNA:polymorphism: :HLA-DPB1*040101 (human) RGD PMID:17349874 RGD:150429811 NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387 		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 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G MX1 MX dynamin like GTPase 1 exacerbates ISO protein:increased expression:body wart (human) RGD PMID:28736973 RGD:126777683 NCBI chr21:27,756,768...27,795,307
Ensembl chr21:41,095,928...41,123,019 		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 chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G TLR3 toll like receptor 3 resistance ISO mRNA:increased expression:cervix epithelium (human) RGD PMID:20473890 RGD:5129102 NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728 		JBrowse link
G VAMP7 vesicle associated membrane protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr  X:145,362,432...145,425,097
Ensembl chr  X:155,257,185...155,320,215 		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 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402 		JBrowse link
G FOXP3 forkhead box P3 susceptibility ISO DNA:SNPs:promoter:rs5902434,rs2232365 (human) RGD PMID:28298239 RGD:38549360 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029 		JBrowse link
G IL32 interleukin 32 ISO mRNA:decreased expression:blood serum (human) RGD PMID:24015634 RGD:150340746 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929 		JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain severity ISO DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0602 (human)
DNA:polymorphism: :HLA-DQB1*0602(human)		 RGD PMID:15336778 PMID:19861144 RGD:36174013 RGD:5147657 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		JBrowse link
G NLRP1 NLR family pyrin domain containing 1 ISO ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital ClinVar
OMIM		 PMID:17377159 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31484767 NCBI chr17:5,562,129...5,667,765
Ensembl chr17:5,542,007...5,623,091 		JBrowse link
G PDCD1 programmed cell death 1 ISO RGD PMID:22322668 RGD:40822813 NCBI chr12:130,849,353...130,858,776 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 chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978 		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 chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225 		JBrowse link
G CLU clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523 		JBrowse link
G FGF10 fibroblast growth factor 10 ISO protein:increased expression:skin (mouse) RGD PMID:24582960 RGD:126928134 NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706 		JBrowse link
G NRG1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977 		JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331 		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 ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis OMIM
ClinVar		 PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More... NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647 		JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr2B:23,876,931...23,956,032
Ensembl chr2B:139,977,483...140,056,836 		JBrowse link
G LCT lactase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr2B:24,025,383...24,079,779
Ensembl chr2B:139,855,605...139,908,764 		JBrowse link
G MCM6 minichromosome maintenance complex component 6 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr2B:23,986,278...24,023,045
Ensembl chr2B:139,911,909...139,947,687 		JBrowse link
G R3HDM1 R3H domain containing 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr2B:24,141,258...24,331,499
Ensembl chr2B:139,654,036...139,793,678 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr2B:24,692,363...24,810,685
Ensembl chr2B:139,125,375...139,242,721 		JBrowse link
G UBXN4 UBX domain protein 4 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr2B:24,081,450...24,124,876
Ensembl chr2B:139,810,274...139,850,671 		JBrowse link
G ZRANB3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr2B:24,331,731...24,665,652
Ensembl chr2B:139,234,909...139,577,193 		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:67,093,675...67,231,318
Ensembl chr  X:77,255,312...77,342,756 		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:66,682,968...66,969,421
Ensembl chr  X:76,795,574...77,083,486 		JBrowse link
G LOC100986707 cytochrome c oxidase subunit 7B, mitochondrial 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:67,082,551...67,088,492
Ensembl chr  X:77,194,757...77,200,532 		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:67,009,590...67,078,691
Ensembl chr  X:77,122,801...77,190,690 		JBrowse link
G PGAM4 phosphoglycerate mutase family member 4 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:67,148,926...67,150,605 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:67,280,269...67,302,307
Ensembl chr  X:77,391,805...77,414,459 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease by infectious agent 2104
      viral infectious disease 1612
        Tumor Virus Infections 108
          Avian Leukosis 0
          Avian Sarcoma 1
          Epstein-Barr virus infectious disease + 42
          Marek Disease 0
          Merkel cell carcinoma 4
          Murine Acquired Immunodeficiency Syndrome 6
          Ovine Pulmonary Adenomatosis 0
          papillomavirus infectious disease + 65
paths to the root