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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:head and neck carcinoma
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Accession:DOID:1542 term browser browse the term
Definition:A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx. (DO)
Synonyms:exact_synonym: carcinoma of neck;   carcinoma of the neck
 xref: MONDO:0002038;   NCI:C6077
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
head and neck squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25275603 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Abcc1 ATP-binding cassette, sub-family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25275603 NCBI chr16:14,179,317...14,292,743
Ensembl chr16:14,179,422...14,293,601 		JBrowse link
G Abcc2 ATP-binding cassette, sub-family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25275603 NCBI chr19:43,770,747...43,826,771
Ensembl chr19:43,770,631...43,829,179 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 (Junior blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:25275603 NCBI chr 6:58,561,476...58,669,436
Ensembl chr 6:58,561,508...58,672,661 		JBrowse link
G Abl1 c-abl oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:11569495 PMID:11853795 PMID:12399961 PMID:12623848 PMID:14745431 More... NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239 		JBrowse link
G Akt1 thymoma viral proto-oncogene 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma		 CTD
ClinVar		 PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318 		JBrowse link
G Ankrd17 ankyrin repeat domain 17 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28580594 NCBI chr 5:90,375,025...90,517,133
Ensembl chr 5:90,375,025...90,514,436 		JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:12509969 NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:26619011 NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 exacerbates ISO mRNA:increased expression:head or neck skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ameliorates ISO mRNA:increased expression:head or neck skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187 		JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:26614431 NCBI chr 2:5,142,587...5,235,682
Ensembl chr 2:5,142,587...5,235,689 		JBrowse link
G Ccna1 cyclin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 PMID:29464035 NCBI chr 3:54,952,890...54,965,055
Ensembl chr 3:54,952,890...54,962,922 		JBrowse link
G Ccna2 cyclin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 3:36,619,014...36,627,187
Ensembl chr 3:36,619,014...36,626,299 		JBrowse link
G Ccnb1 cyclin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr13:100,915,247...100,922,994
Ensembl chr13:100,915,158...100,923,078 		JBrowse link
G Ccnd1 cyclin D1 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26909611 PMID:29464035 PMID:9796972 RGD:13434911 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959 		JBrowse link
G Ccne2 cyclin E2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 4:11,190,489...11,204,781
Ensembl chr 4:11,191,351...11,204,779 		JBrowse link
G Cdc73 cell division cycle 73, Paf1/RNA polymerase II complex component exacerbates ISO protein:increased expression:squamous epithelium (human) RGD PMID:26124004 RGD:11065919 NCBI chr 1:143,479,014...143,578,631
Ensembl chr 1:143,474,538...143,578,631 		JBrowse link
G Cdk2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr10:128,533,807...128,540,920
Ensembl chr10:128,533,808...128,540,900 		JBrowse link
G Cdk4 cyclin dependent kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789 		JBrowse link
G Cdk6 cyclin dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A disease_progression ISO DNA:SNPs: :rs3731217, rs3088440 (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck		 CTD
ClinVar
RGD		 PMID:7718873 PMID:7777061 PMID:7780957 PMID:8153634 PMID:8521414 More... RGD:8552291 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO mRNA:increased expression:head or neck skin (human) RGD PMID:28486105 RGD:153323299 NCBI chr 6:125,073,144...125,107,554
Ensembl chr 6:125,072,944...125,107,554 		JBrowse link
G Cldn1 claudin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33665778 NCBI chr16:26,175,395...26,190,589
Ensembl chr16:26,175,392...26,190,591 		JBrowse link
G Cntn4 contactin 4 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28595731 NCBI chr 6:105,654,505...106,677,102
Ensembl chr 6:105,654,621...106,676,271 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck		 CTD
ClinVar		 PMID:9927029 PMID:10192393 PMID:23265383 PMID:25157968 PMID:26619011 More... NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Cyp2c38 cytochrome P450, family 2, subfamily c, polypeptide 38 treatment ISO DNA:polymorphisms: :CYP2C19*2(human) RGD PMID:19954746 RGD:401901267 NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519 		JBrowse link
G Cyp2c65 cytochrome P450, family 2, subfamily c, polypeptide 65 treatment ISO DNA:polymorphisms: :CYP2C9*2(human) RGD PMID:19954746 RGD:401901267 NCBI chr19:39,049,450...39,082,392
Ensembl chr19:39,049,459...39,082,388 		JBrowse link
G Cyp2d22 cytochrome P450, family 2, subfamily d, polypeptide 22 treatment ISO DNA:polymorphisms: :CYP2D6*4,CYP2D6*10(human) RGD PMID:19954746 RGD:401901267 NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461 		JBrowse link
G Ddr2 discoidin domain receptor family, member 2 severity ISO RGD PMID:24556606 RGD:150429746 NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331 		JBrowse link
G Dnmt3b DNA methyltransferase 3B susceptibility ISO DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human) RGD PMID:18455294 RGD:9589078 NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar NCBI chr 3:118,355,758...119,226,573
Ensembl chr 3:118,355,778...119,226,573 		JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:15118073 PMID:15118125 PMID:15788655 PMID:17177598 PMID:20415598 More... NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:26619011 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO ClinVar Annotator: match by term: Head and neck squamous cell carcinoma ClinVar
RGD		 PMID:22908275 PMID:26619011 PMID:20604875 RGD:126790467 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 severity ISO RGD PMID:20604875 RGD:126790467 NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218 		JBrowse link
G Fancb Fanconi anemia, complementation group B ISO DNA:hypermethylation:promoter RGD PMID:20332657 RGD:11344903 NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 IMP RGD PMID:20935219 RGD:11344907 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:25741868 PMID:26619011 NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Head and neck squamous cell carcinoma ClinVar PMID:1908846 PMID:7773297 PMID:8589699 PMID:8640234 PMID:8858131 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 severity ISO DNA:SNP:exon 9: p.G388R (human) RGD PMID:17084840 RGD:150520023 NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572 		JBrowse link
G Fhit fragile histidine triad gene ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28580594 NCBI chr14:11,307,718...12,919,681
Ensembl chr14:11,307,738...12,919,681 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537 		JBrowse link
G Grik2 glutamate receptor, ionotropic, kainate 2 (beta 2) ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:26614431 NCBI chr10:48,969,776...49,666,523
Ensembl chr10:48,970,929...49,664,862 		JBrowse link
G Hoxa5 homeobox A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22227861 NCBI chr 6:52,178,768...52,181,437
Ensembl chr 6:52,178,734...52,181,567 		JBrowse link
G Hoxd10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22227861 NCBI chr 2:74,514,617...74,525,450
Ensembl chr 2:74,522,268...74,525,449 		JBrowse link
G Hoxd11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22227861 NCBI chr 2:74,509,902...74,517,360
Ensembl chr 2:74,509,901...74,517,360 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:1904555 PMID:2105486 PMID:3510078 PMID:11150980 PMID:12727991 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 More... NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140 		JBrowse link
G Ifnl2 interferon lambda 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21304406 NCBI chr 7:28,208,209...28,209,957
Ensembl chr 7:28,208,261...28,209,880 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30594912 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738319 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1rap interleukin 1 receptor accessory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738319 NCBI chr16:26,400,259...26,548,878
Ensembl chr16:26,400,454...26,548,867 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:3263896 PMID:2787951 RGD:8662923, RGD:8662971 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Ing1 inhibitor of growth family, member 1 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10866301 NCBI chr 8:11,605,762...11,613,251
Ensembl chr 8:11,605,571...11,613,251 		JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30594912 NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137 		JBrowse link
G Junb jun B proto-oncogene ameliorates ISO human cell line in a mouse model RGD PMID:26754630 RGD:11556098 NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347 		JBrowse link
G Keap1 kelch-like ECH-associated protein 1 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar NCBI chr 9:21,141,026...21,150,628
Ensembl chr 9:21,141,026...21,150,657 		JBrowse link
G Kiss1 KiSS-1 metastasis-suppressor ISO CTD Direct Evidence: therapeutic CTD PMID:21383688 NCBI chr 1:133,249,625...133,257,460
Ensembl chr 1:133,237,565...133,257,460
Ensembl chr 1:133,237,565...133,257,460 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:16307017 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Lnx1 ligand of numb-protein X 1 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:26614431 NCBI chr 5:74,753,108...74,865,203
Ensembl chr 5:74,753,108...74,863,573 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck		 ClinVar PMID:1904555 PMID:2105486 PMID:3510078 PMID:11150980 PMID:12727991 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:23444215 PMID:25157968 PMID:26619011 NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:18042262 PMID:26619011 NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
G Mapk1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:26619011 NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24991542 NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995 		JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:30617160 RGD:21081517 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Mir222 microRNA 222 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19487542 NCBI chr  X:19,013,132...19,013,210
Ensembl chr  X:19,013,132...19,013,210 		JBrowse link
G Mir494 microRNA 494 exacerbates ISO RGD PMID:26090866 RGD:11529207 NCBI chr12:109,681,752...109,681,836
Ensembl chr12:109,681,752...109,681,836 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28595731 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Naip2 NLR family, apoptosis inhibitory protein 2 ameliorates ISO mRNA:increased expression:head or neck skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr13:100,280,571...100,338,630
Ensembl chr13:100,280,571...100,338,600 		JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28501332 NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348 		JBrowse link
G Ndrg1 N-myc downstream regulated gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22972152 NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:26619011 PMID:29018201 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23125191 NCBI chr  X:71,962,127...72,002,134
Ensembl chr  X:71,962,163...72,002,120 		JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 susceptibility ISO DNA:SNP: :rs1052133 (human) RGD PMID:22081374 PMID:21727658 RGD:8657144, RGD:8657147 NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck		 CTD
ClinVar		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Polr1c polymerase (RNA) I polypeptide C ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980 		JBrowse link
G Ppp2r1a protein phosphatase 2, regulatory subunit A, alpha ISO ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 PMID:31687265 More... NCBI chr17:21,165,716...21,186,167
Ensembl chr17:21,165,573...21,186,178 		JBrowse link
G Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:26614431 NCBI chr 1:11,063,496...11,373,907
Ensembl chr 1:11,063,689...11,373,905 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck		 CTD
ClinVar		 PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12969226 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Ptpn13 protein tyrosine phosphatase, non-receptor type 13 susceptibility ISO DNA:SNPs:cds:c.4566 A>G(I1522M)(rs2230600), c.6241 T>G (Y2081D)(rs989902)(human)
DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)		 RGD PMID:19892796 PMID:19672627 RGD:152176661, RGD:152176665 NCBI chr 5:103,573,058...103,746,227
Ensembl chr 5:103,573,058...103,746,169 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: Head and neck squamous cell carcinoma ClinVar PMID:25056119 PMID:26619011 NCBI chr 5:143,491,236...143,513,786
Ensembl chr 5:143,489,389...143,513,791 		JBrowse link
G Rasgrp3 RAS, guanyl releasing protein 3 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:26614431 NCBI chr17:75,742,849...75,836,049
Ensembl chr17:75,742,891...75,836,049 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:31775759 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:26619011 NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133 		JBrowse link
G Samd4 sterile alpha motif domain containing 4 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28580594 NCBI chr14:47,120,414...47,343,274
Ensembl chr14:47,120,311...47,343,272 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 severity ISO protein:increased expression:oral mucosa (human) RGD PMID:15878520 RGD:8547730 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Slc29a1 solute carrier family 29 (nucleoside transporters), member 1 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar NCBI chr17:45,896,126...45,910,544
Ensembl chr17:45,896,126...45,910,532 		JBrowse link
G Smad4 SMAD family member 4 IMP
ISO		 ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar
RGD		 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 PMID:9679244 More... RGD:12880035 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
G Sntb1 syntrophin, basic 1 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28595731 NCBI chr15:55,499,784...55,770,707
Ensembl chr15:55,499,784...55,770,345 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:20618948 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:27064016 PMID:24395569 RGD:8694302 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31775759 PMID:34326862 NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516 		JBrowse link
G Tnfrsf10b tumor necrosis factor receptor superfamily, member 10b ISO DNA:missense mutation:cds:p.E228A (c.683A>C) (human) RGD PMID:16217763 RGD:11038717 NCBI chr14:70,004,921...70,021,860
Ensembl chr14:70,004,921...70,021,860 		JBrowse link
G Trp53 transformation related protein 53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic		 CTD
ClinVar		 PMID:124622 PMID:253702 PMID:960674 PMID:1349102 PMID:1349175 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G U2af1 U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011 NCBI chr17:31,866,055...31,878,122
Ensembl chr17:31,866,055...31,877,866 		JBrowse link
G Vamp7 vesicle-associated membrane protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896
G Wee1 WEE 1 homolog 1 (S. pombe) ISO CTD Direct Evidence: marker/mechanism CTD PMID:25125259 NCBI chr 7:109,721,266...109,742,506
Ensembl chr 7:109,721,253...109,742,493 		JBrowse link
G Wrap53 WD repeat containing, antisense to Trp53 treatment ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar
RGD		 PMID:25456005 PMID:25070141 RGD:21081529, RGD:21081533 NCBI chr11:69,452,580...69,471,076
Ensembl chr11:69,452,584...69,471,081 		JBrowse link
G Yap1 yes-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729916 NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597 		JBrowse link
oral cavity carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nuf2 NUF2, NDC80 kinetochore complex component disease_progression ISO RGD PMID:27499128 RGD:28867233 NCBI chr 1:169,325,503...169,359,033
Ensembl chr 1:169,325,503...169,359,033 		JBrowse link
tongue squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO protein:increased activity:saliva: RGD PMID:20379753 RGD:152995262 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing disease_progression ISO protein:decreased expression:serum RGD PMID:23181352 RGD:8694469 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 exacerbates ISO protein:increased expression:tongue (human) RGD PMID:18621506 RGD:153323319 NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		JBrowse link
G Brinp3 bone morphogenetic protein/retinoic acid inducible neural specific 3 ISO mRNA:decreased expression:tongue: RGD PMID:19787213 RGD:14398487 NCBI chr 1:146,371,367...146,778,210
Ensembl chr 1:146,370,498...146,778,210 		JBrowse link
G Cav2 caveolin 2 ISO protein:increased expression:mucosa of tongue RGD PMID:20558341 RGD:8661771 NCBI chr 6:17,281,184...17,289,129
Ensembl chr 6:17,281,184...17,289,114 		JBrowse link
G Ccnd1 cyclin D1 ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A disease_progression ISO RGD PMID:12162767 RGD:8662376 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO mRNA:increased expression:head, neck (human) RGD PMID:31452775 RGD:150520018 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Egfr epidermal growth factor receptor treatment IMP RGD PMID:19380367 RGD:8551769 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:19691460 RGD:126781771 NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 severity ISO RGD PMID:19691460 RGD:126781771 NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218 		JBrowse link
G Fancb Fanconi anemia, complementation group B ISO RGD PMID:17409780 RGD:11049143 NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		JBrowse link
G Fancc Fanconi anemia, complementation group C ISO RGD PMID:17409780 RGD:11049143 NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092 		JBrowse link
G Fancf Fanconi anemia, complementation group F ISO mRNA:decreased expression:tongue: RGD PMID:17409780 RGD:11049143 NCBI chr 7:51,510,325...51,512,015
Ensembl chr 7:51,510,325...51,512,015 		JBrowse link
G Fancg Fanconi anemia, complementation group G ISO RGD PMID:17409780 RGD:11049143 NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506 		JBrowse link
G Fanci Fanconi anemia, complementation group I ISO RGD PMID:17409780 RGD:11049143 NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012 		JBrowse link
G Fancl Fanconi anemia, complementation group L ISO RGD PMID:17409780 RGD:11049143 NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		JBrowse link
G Fancm Fanconi anemia, complementation group M ISO RGD PMID:17409780 RGD:11049143 NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832 		JBrowse link
G Fos FBJ osteosarcoma oncogene ISO mRNA,protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047 		JBrowse link
G Fosb FBJ osteosarcoma oncogene B ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 7:19,036,621...19,043,970
Ensembl chr 7:19,036,621...19,043,976 		JBrowse link
G Fosl1 fos-like antigen 1 ISO protein:decreased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr19:5,497,726...5,505,966
Ensembl chr19:5,497,575...5,505,974 		JBrowse link
G Fosl2 fos-like antigen 2 ISO mRNA,protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 5:32,292,599...32,315,184
Ensembl chr 5:32,293,145...32,315,186 		JBrowse link
G Fubp1 far upstream element (FUSE) binding protein 1 exacerbates ISO mRNA, protein:increased expression:tongue (human) RGD PMID:32339054 RGD:151361191 NCBI chr 3:151,916,059...151,942,467
Ensembl chr 3:151,916,059...151,942,463 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO protein:decreased expression:epithelium RGD PMID:23568744 RGD:8662380 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:tongue: RGD PMID:20848408 RGD:8548612 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150 		JBrowse link
G Ifng interferon gamma disease_progression ISO protein:decreased expression:serum: RGD PMID:17338814 RGD:8662972 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il10 interleukin 10 disease_progression ISO protein:increased expression:serum: RGD PMID:17338814 RGD:8662972 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 disease_progression ISO RGD PMID:25193287 RGD:39938972 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575 		JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:serum: RGD PMID:17338814 RGD:8662972 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il33 interleukin 33 disease_progression ISO RGD PMID:25193287 RGD:39938972 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118 		JBrowse link
G Jak3 Janus kinase 3 disease_progression ISO RGD PMID:26860129 RGD:11531126 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Jun jun proto-oncogene ISO mRNA,protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459 		JBrowse link
G Junb jun B proto-oncogene ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 8:85,703,538...85,705,377
Ensembl chr 8:85,701,113...85,705,347 		JBrowse link
G Jund jun D proto-oncogene ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 8:71,150,389...71,153,265
Ensembl chr 8:71,151,599...71,153,265 		JBrowse link
G Kdr kinase insert domain protein receptor treatment IMP RGD PMID:19380367 RGD:8551769 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 ISO mRNA:increased expression:tongue squamous epithelium (human) RGD PMID:28319306 RGD:150429750 NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123 		JBrowse link
G Met met proto-oncogene ISO protein:increased expression:tongue: RGD PMID:20848408 RGD:8548612 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mtus1 mitochondrial tumor suppressor 1 disease_progression ISO RGD PMID:22153618 RGD:25330347 NCBI chr 8:41,443,949...41,587,318
Ensembl chr 8:41,443,951...41,586,763 		JBrowse link
G Slc1a5 solute carrier family 1 (neutral amino acid transporter), member 5 disease_progression ISO RGD PMID:24762957 RGD:151361157 NCBI chr 7:16,515,259...16,532,199
Ensembl chr 7:16,515,265...16,532,199 		JBrowse link
G Slc3a2 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 disease_progression ISO RGD PMID:24762957 RGD:151361157 NCBI chr19:8,684,931...8,700,733
Ensembl chr19:8,684,246...8,700,733 		JBrowse link
G Slc7a11 solute carrier family 7 (cationic amino acid transporter, y+ system), member 11 severity ISO RGD PMID:24762957 RGD:151361157 NCBI chr 3:50,319,385...50,403,947
Ensembl chr 3:49,846,975...50,398,063 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 disease_progression ISO RGD PMID:24762957 RGD:151361157 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 disease_progression ISO RGD PMID:21689966 RGD:8661665 NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610 		JBrowse link
G Trp53 transformation related protein 53 ISO protein:increased expression:tongue: RGD PMID:20385474 RGD:8547851 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of cellular proliferation 7494
      cancer 5431
        organ system cancer 5194
          head and neck cancer 154
            head and neck carcinoma 145
              head and neck squamous cell carcinoma + 144
              larynx carcinoma in situ 0
              oral cavity carcinoma in situ + 1
              pharynx carcinoma in situ 0
paths to the root