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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:Oropharyngeal Neoplasms
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Accession:DOID:9000906 term browser browse the term
Definition:Tumors or cancer of the OROPHARYNX.
Synonyms:exact_synonym: Oropharyngeal Neoplasm;   oropharynx neoplasm;   oropharynx neoplasms
 primary_id: MESH:D009959
 alt_id: RDO:0006247


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Oropharyngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G NDRG1 N-myc downstream regulated 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22972152 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022 		JBrowse link
G TP53 tumor protein p53 disease_progression IEP RGD PMID:11072161 RGD:8547874 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
adenoid cystic carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517 		JBrowse link
G ARID1A AT-rich interaction domain 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040 		JBrowse link
G ARID4B AT-rich interaction domain 4B EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:235,166,902...235,328,179
Ensembl chr 1:235,131,634...235,328,219 		JBrowse link
G ARID5B AT-rich interaction domain 5B EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:61,901,699...62,096,944
Ensembl chr10:61,901,684...62,096,944 		JBrowse link
G ASPM assembly factor for spindle microtubules EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694 		JBrowse link
G ATM ATM serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G ATR ATR serine/threonine kinase treatment IMP RGD PMID:32001675 RGD:150340693 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G ATRX ATRX chromatin remodeler EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar Annotator: match by term: Adenocystic carcinoma		 ClinVar PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 PMID:28492532 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BCL11A BCL11 transcription factor A EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467 		JBrowse link
G BCOR BCL6 corepressor EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma		 CTD
ClinVar		 PMID:23685749 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BCORL1 BCL6 corepressor like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:129,980,313...130,058,071
Ensembl chr  X:129,981,107...130,058,071 		JBrowse link
G BRCA1 BRCA1 DNA repair associated EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRD1 bromodomain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr22:49,773,278...49,827,873
Ensembl chr22:49,773,278...49,827,873 		JBrowse link
G CCND1 cyclin D1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CDH1 cadherin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17520682 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CMTR2 cap methyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr16:71,281,392...71,289,722
Ensembl chr16:71,281,389...71,289,715 		JBrowse link
G CNTN6 contactin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:1,093,024...1,404,217
Ensembl chr 3:1,092,658...1,404,217 		JBrowse link
G CREBBP CREB binding protein EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma		 CTD
ClinVar		 PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G DAPK1 death associated protein kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 9:87,497,228...87,708,634
Ensembl chr 9:87,497,228...87,708,634 		JBrowse link
G DTL denticleless E3 ubiquitin protein ligase homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:212,035,748...212,105,013
Ensembl chr 1:212,035,553...212,107,400 		JBrowse link
G DTX4 deltex E3 ubiquitin ligase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:59,171,430...59,208,588
Ensembl chr11:59,171,430...59,208,588 		JBrowse link
G EFHD1 EF-hand domain family member D1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:232,606,057...232,682,776
Ensembl chr 2:232,606,057...232,682,776 		JBrowse link
G EN1 engrailed homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:118,842,171...118,847,648
Ensembl chr 2:118,842,171...118,847,648 		JBrowse link
G EP300 E1A binding protein p300 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G ERBIN erbb2 interacting protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:65,926,575...66,082,546
Ensembl chr 5:65,883,128...66,082,546 		JBrowse link
G ESPL1 extra spindle pole bodies like 1, separase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr12:53,268,299...53,293,638
Ensembl chr12:53,268,299...53,293,638 		JBrowse link
G FANCA FA complementation group A EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FAT1 FAT atypical cadherin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma		 CTD
ClinVar		 PMID:23685749 PMID:26619011 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		JBrowse link
G FGF16 fibroblast growth factor 16 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:77,447,389...77,457,278
Ensembl chr  X:77,447,389...77,457,278 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar PMID:26619011 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144 		JBrowse link
G FOXO3 forkhead box O3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774 		JBrowse link
G FOXP2 forkhead box P2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G GAS2 growth arrest specific 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:22,626,002...22,813,055
Ensembl chr11:22,625,509...22,813,001 		JBrowse link
G GAS6 growth arrest specific 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:113,820,549...113,864,076
Ensembl chr13:113,820,549...113,864,076 		JBrowse link
G GINS2 GINS complex subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:85,676,198...85,688,954
Ensembl chr16:85,676,198...85,690,073 		JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 4:155,666,848...155,737,059
Ensembl chr 4:155,666,726...155,737,059 		JBrowse link
G H1-4 H1.4 linker histone, cluster member EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115 		JBrowse link
G H2AC16 H2A clustered histone 16 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:27,865,317...27,865,798
Ensembl chr 6:27,865,317...27,865,798 		JBrowse link
G HOMER3 homer scaffold protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:18,929,201...18,941,217
Ensembl chr19:18,929,201...18,941,261 		JBrowse link
G HRAS HRas proto-oncogene, GTPase EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma		 CTD
ClinVar		 PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:216,632,828...216,664,436
Ensembl chr 2:216,632,828...216,664,436 		JBrowse link
G IL17RD interleukin 17 receptor D EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306 		JBrowse link
G INSRR insulin receptor related receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:156,840,063...156,859,117
Ensembl chr 1:156,840,063...156,859,117 		JBrowse link
G IRX4 iroquois homeobox 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 5:1,877,413...1,887,179
Ensembl chr 5:1,877,413...1,887,236 		JBrowse link
G ISYNA1 inositol-3-phosphate synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:18,434,388...18,438,133
Ensembl chr19:18,434,388...18,438,167 		JBrowse link
G ITGB4 integrin subunit beta 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G JAK3 Janus kinase 3 IAGP ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:14615376 PMID:28492532 PMID:33040328 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071 		JBrowse link
G JMJD1C jumonji domain containing 1C EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KAT6A lysine acetyltransferase 6A EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KDM6A lysine demethylase 6A exacerbates EXP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple: (human)
DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human)		 CTD
RGD		 PMID:23685749 PMID:31483290 PMID:23685749 RGD:150429736, RGD:150429732 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KDM6B lysine demethylase 6B EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796 		JBrowse link
G KMT2C lysine methyltransferase 2C disease_progression EXP
IAGP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23685749 PMID:31483290 RGD:150429736 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KRT15 keratin 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:41,513,745...41,518,890
Ensembl chr17:41,513,745...41,522,529 		JBrowse link
G KRT5 keratin 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:65,353,526...66,038,918
Ensembl chr 3:65,353,525...66,038,918 		JBrowse link
G MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:78,017,055...79,453,667
Ensembl chr 7:78,017,055...79,453,667 		JBrowse link
G MAML3 mastermind like transcriptional coactivator 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:139,716,753...140,154,184
Ensembl chr 4:139,716,753...140,154,184 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MARCKS myristoylated alanine rich protein kinase C substrate EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:113,857,345...113,863,475
Ensembl chr 6:113,857,345...113,863,475 		JBrowse link
G MARK2 microtubule affinity regulating kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:63,839,110...63,911,020
Ensembl chr11:63,838,928...63,911,020 		JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G MGA MAX dimerization protein MGA EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr15:41,621,224...41,769,940
Ensembl chr15:41,621,134...41,773,081 		JBrowse link
G MIER2 MIER family member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:305,573...344,796
Ensembl chr19:305,573...344,815 		JBrowse link
G MLC1 modulator of VRAC current 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,426 		JBrowse link
G MORF4L1 mortality factor 4 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr15:78,872,890...78,898,139
Ensembl chr15:78,810,487...78,903,078 		JBrowse link
G MYB MYB proto-oncogene, transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 PMID:26829750 NCBI chr 6:135,181,308...135,219,172
Ensembl chr 6:135,181,308...135,219,173 		JBrowse link
G MYBL1 MYB proto-oncogene like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:66,562,175...66,613,218
Ensembl chr 8:66,562,175...66,614,247 		JBrowse link
G MYCBP MYC binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:38,862,490...38,873,378
Ensembl chr 1:38,862,493...38,873,368 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G NETO2 neuropilin and tolloid like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:47,077,703...47,143,945
Ensembl chr16:47,077,703...47,143,945 		JBrowse link
G NFIB nuclear factor I B EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 9:14,081,843...14,532,077
Ensembl chr 9:14,081,843...14,398,983 		JBrowse link
G NOTCH1 notch receptor 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma		 CTD
ClinVar		 PMID:23685749 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NTRK3 neurotrophic receptor tyrosine kinase 3 treatment IMP RGD PMID:23027130 RGD:150519921 NCBI chr15:87,859,751...88,256,739
Ensembl chr15:87,859,751...88,256,791 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr  X:48,831,096...48,835,610
Ensembl chr  X:48,831,096...48,835,610 		JBrowse link
G PDZK1 PDZ domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:145,670,852...145,707,400
Ensembl chr 1:145,670,852...145,708,148 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma		 CTD
ClinVar		 PMID:15930273 PMID:17376864 PMID:18074223 PMID:19366826 PMID:22120714 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178 		JBrowse link
G PTEN phosphatase and tensin homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PYGB glycogen phosphorylase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr20:25,248,085...25,298,012
Ensembl chr20:25,248,085...25,298,012 		JBrowse link
G RBFOX2 RNA binding fox-1 homolog 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr22:35,738,736...36,028,824
Ensembl chr22:35,738,736...36,028,824 		JBrowse link
G SERPINF1 serpin family F member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079 		JBrowse link
G SLC24A3 solute carrier family 24 member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr20:19,212,642...19,722,926
Ensembl chr20:19,212,642...19,722,926 		JBrowse link
G SLC3A2 solute carrier family 3 member 2 disease_progression IEP RGD PMID:23516127 RGD:151361211 NCBI chr11:62,856,109...62,888,860
Ensembl chr11:62,856,004...62,888,880 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression IEP RGD PMID:23516127 RGD:151361211 NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507 		JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma		 CTD
ClinVar		 PMID:23685749 NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SON SON DNA and RNA binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SOX11 SRY-box transcription factor 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385 		JBrowse link
G SOX4 SRY-box transcription factor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:126,355,686...126,414,638
Ensembl chr11:126,355,640...126,440,344 		JBrowse link
G STAG3L1 STAG3 cohesin complex component like 1 (pseudogene) EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:75,359,200...75,367,809
Ensembl chr 7:75,361,374...75,367,087 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G TLK1 tousled like kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:170,990,823...171,231,293
Ensembl chr 2:170,990,823...171,231,314 		JBrowse link
G TOP2A DNA topoisomerase II alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896 		JBrowse link
G TP53 tumor protein p53 disease_progression IEP
IAGP
EXP		 ClinVar Annotator: match by term: Adenocystic carcinoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1673792 PMID:1686725 PMID:6736287 PMID:7707106 PMID:7881428 More... RGD:8547828 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G UHRF1 ubiquitin like with PHD and ring finger domains 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr19:4,903,080...4,962,154
Ensembl chr19:4,903,080...4,962,154 		JBrowse link
G VCAN versican EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 5:83,471,744...83,582,302
Ensembl chr 5:83,471,618...83,582,303 		JBrowse link
G WNT5B Wnt family member 5B EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr12:1,617,056...1,647,212
Ensembl chr12:1,529,891...1,647,212 		JBrowse link
G XAGE1A X antigen family member 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24648988 NCBI chr  X:52,495,808...52,500,812
Ensembl chr  X:52,495,808...52,500,812 		JBrowse link
G XRN2 5'-3' exoribonuclease 2 IAGP DNA:hypermethylation:3' utr: (human) RGD PMID:21692051 RGD:11041796 NCBI chr20:21,303,331...21,389,825
Ensembl chr20:21,303,331...21,389,825 		JBrowse link
G ZIM2 zinc finger imprinted 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:56,774,547...56,840,726
Ensembl chr19:56,774,547...56,840,731 		JBrowse link
adenoid squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNF1A HNF1 homeobox A ISO RGD PMID:10489374 RGD:150540314 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
Cutaneous Telangiectasia and Cancer Syndrome, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase IAGP ClinVar Annotator: match by term: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome OMIM
ClinVar		 PMID:9536098 PMID:15987455 PMID:17010193 PMID:17576681 PMID:18414213 More... NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G LOC126806830 BRD4-independent group 4 enhancer GRCh37_chr3:142203676-142204875 IAGP ClinVar Annotator: match by term: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:142,484,834...142,486,033 JBrowse link
G LOC129937703 ATAC-STARR-seq lymphoblastoid active region 20643 IAGP ClinVar Annotator: match by term: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:142,578,524...142,578,683 JBrowse link
oropharynx cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 HEP mRNA:increased expression:head, neck (human) RGD PMID:31452775 RGD:150520018 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 disease_progression IEP RGD PMID:31187548 RGD:32716423 NCBI chr17:64,039,142...64,130,144
Ensembl chr17:64,039,080...64,130,819 		JBrowse link
G MIR155 microRNA 155 treatment IDA RGD PMID:28347920 RGD:24922223 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044 		JBrowse link
salivary gland adenoid cystic carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR155 microRNA 155 disease_progression IEP RGD PMID:28668836 RGD:24922215 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044 		JBrowse link
G MTUS1 microtubule associated scaffold protein 1 disease_progression IEP RGD PMID:25885343 RGD:25330345 NCBI chr 8:17,643,802...17,801,521
Ensembl chr 8:17,643,795...17,801,094 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 susceptibility IAGP DNA:SNP:intron: (rs13180356) (human) RGD PMID:26035306 RGD:151361290 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
tonsil cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 HEP mRNA:increased expression:head, neck (human) RGD PMID:31452775 RGD:150520018 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
tonsil squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 severity IEP associated with human papillomavirus;protein:decreased expression:tumor cells (human) RGD PMID:30061236 RGD:36947883 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    Stomatognathic Diseases 3524
      Pharyngeal Diseases 723
        Pharyngeal Neoplasms 287
          Oropharyngeal Neoplasms 196
            Cutaneous Telangiectasia and Cancer Syndrome, Familial 3
            Tonsillar Neoplasms + 122
            oropharynx cancer + 190
Path 2
Term Annotations click to browse term
  disease 97387
    Pathological Conditions, Signs and Symptoms 53656
      Signs and Symptoms 35476
        Neurologic Manifestations 31894
          sensory system disease 20957
            Otorhinolaryngologic Diseases 3877
              Pharyngeal Diseases 723
                Pharyngeal Neoplasms 287
                  Oropharyngeal Neoplasms 196
                    Cutaneous Telangiectasia and Cancer Syndrome, Familial 3
                    Tonsillar Neoplasms + 122
                    oropharynx cancer + 190
paths to the root