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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 subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25275603 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcc1 ATP binding cassette subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25275603 NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114 		JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25275603 NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238 		JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25275603 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Abl1 ABL proto-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 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065 		JBrowse link
G Akt1 AKT serine/threonine kinase 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 chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Ankrd17 ankyrin repeat domain 17 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28580594 NCBI chr14:17,723,239...17,861,841
Ensembl chr14:17,721,932...17,862,617 		JBrowse link
G Atp7b ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:12509969 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		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 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		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 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ameliorates ISO mRNA:increased expression:head or neck skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase 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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:26614431 NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337 		JBrowse link
G Ccna1 cyclin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 PMID:29464035 NCBI chr 2:139,231,738...139,278,066
Ensembl chr 2:139,201,074...139,243,157 		JBrowse link
G Ccna2 cyclin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 2:119,427,239...119,433,645
Ensembl chr 2:119,426,089...119,433,577 		JBrowse link
G Ccnb1 cyclin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172 		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 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101 		JBrowse link
G Ccne2 cyclin E2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 5:24,285,078...24,298,258
Ensembl chr 5:24,284,922...24,297,632 		JBrowse link
G Cdc73 cell division cycle 73 exacerbates ISO protein:increased expression:squamous epithelium (human) RGD PMID:26124004 RGD:11065919 NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656 		JBrowse link
G Cdk2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634 		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 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		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 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541 		JBrowse link
G Cldn1 claudin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33665778 NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724 		JBrowse link
G Cntn4 contactin 4 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28595731 NCBI chr 4:138,624,584...139,622,499
Ensembl chr 4:139,099,152...139,621,090 		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 chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		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 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 treatment ISO DNA:polymorphisms: :CYP2C9*2(human) RGD PMID:19954746 RGD:401901267 NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066 		JBrowse link
G Cyp2c6 cytochrome P450, family 2, subfamily C, polypeptide 6 treatment ISO DNA:polymorphisms: :CYP2C19*2(human) RGD PMID:19954746 RGD:401901267 NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 treatment ISO DNA:polymorphisms: :CYP2D6*4,CYP2D6*10(human) RGD PMID:19954746 RGD:401901267 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 severity ISO RGD PMID:24556606 RGD:150429746 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human) RGD PMID:18455294 RGD:9589078 NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		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 chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		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 chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		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 chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 severity ISO RGD PMID:20604875 RGD:126790467 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Fancb FA complementation group B ISO DNA:hypermethylation:promoter RGD PMID:20332657 RGD:11344903 NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
G Fancd2 FA complementation group D2 ISO RGD PMID:20935219 RGD:11344907 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:25741868 PMID:26619011 NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941 		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 chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 severity ISO DNA:SNP:exon 9: p.G388R (human) RGD PMID:17084840 RGD:150520023 NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242 		JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28580594 NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340 		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 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:26614431 NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375 		JBrowse link
G Hoxa5 homeo box A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22227861 NCBI chr 4:81,302,341...81,306,234
Ensembl chr 4:81,302,353...81,306,234 		JBrowse link
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22227861 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725 		JBrowse link
G Hoxd11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22227861 NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783 		JBrowse link
G Hras HRas proto-oncogene, GTPase 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 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 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 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Ifnl3 interferon, lambda 3 ISO CTD Direct Evidence: therapeutic CTD PMID:21304406 NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30594912 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738319 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1rap interleukin 1 receptor accessory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27738319 NCBI chr11:74,062,999...74,199,530
Ensembl chr11:74,070,304...74,199,530 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:3263896 PMID:2787951 RGD:8662923, RGD:8662971 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		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 chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264 		JBrowse link
G Irs1 insulin receptor substrate 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30594912 NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ameliorates ISO human cell line in a mouse model RGD PMID:26754630 RGD:11556098 NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035 		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 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862 		JBrowse link
G Kiss1 KiSS-1 metastasis-suppressor ISO CTD Direct Evidence: therapeutic CTD PMID:21383688 NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612 		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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		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 chr14:33,514,429...33,617,086
Ensembl chr14:33,514,436...33,617,086 		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 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		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 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		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 chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		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 chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24991542 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756 		JBrowse link
G Mir155 microRNA 155 ISO RGD PMID:30617160 RGD:21081517 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mir222 microRNA 222 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19487542 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006 		JBrowse link
G Mir494 microRNA 494 exacerbates ISO RGD PMID:26090866 RGD:11529207 NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28595731 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Naip6 NLR family, apoptosis inhibitory protein 6 ameliorates ISO mRNA:increased expression:head or neck skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542 		JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28501332 NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22972152 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:26619011 PMID:29018201 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:23125191 NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:SNP: :rs1052133 (human) RGD PMID:22081374 PMID:21727658 RGD:8657144, RGD:8657147 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		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 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Ppp2r1a protein phosphatase 2 scaffold 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 chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129 		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 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068 		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 chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12969226 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		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 chr14:6,108,202...6,282,619
Ensembl chr14:6,108,211...6,282,563 		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 chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
G Rasgrp3 RAS guanyl releasing protein 3 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:26614431 NCBI chr 6:19,895,361...19,993,945
Ensembl chr 6:19,895,390...19,958,578 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:31775759 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		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 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Samd4a sterile alpha motif domain containing 4A ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28580594 NCBI chr15:20,135,994...20,352,131
Ensembl chr15:20,134,377...20,348,380 		JBrowse link
G Serpine1 serpin family E member 1 severity ISO protein:increased expression:oral mucosa (human) RGD PMID:15878520 RGD:8547730 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203 		JBrowse link
G Smad4 SMAD family member 4 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 chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Sntb1 syntrophin, beta 1 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28595731 NCBI chr 7:87,060,926...87,329,315
Ensembl chr 7:87,060,926...87,329,315 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20618948 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		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 chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		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 chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Tnfrsf10b TNF receptor superfamily member 10b ISO DNA:missense mutation:cds:p.E228A (c.683A>C) (human) RGD PMID:16217763 RGD:11038717 NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467 		JBrowse link
G Tp53 tumor protein p53 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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 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 chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832 		JBrowse link
G Vamp7 vesicle-associated membrane protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr12:16,728,486...16,764,261
Ensembl chr12:16,728,524...16,764,097 		JBrowse link
G Wee1 WEE1 G2 checkpoint kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25125259 NCBI chr 1:164,173,681...164,197,688
Ensembl chr 1:164,174,779...164,197,688 		JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 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 chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729916 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010 		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 component of NDC80 kinetochore complex disease_progression ISO RGD PMID:27499128 RGD:28867233 NCBI chr13:81,693,675...81,722,765
Ensembl chr13:81,693,598...81,722,766 		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 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing disease_progression ISO protein:decreased expression:serum RGD PMID:23181352 RGD:8694469 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 exacerbates ISO protein:increased expression:tongue (human) RGD PMID:18621506 RGD:153323319 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Brinp3 BMP/retinoic acid inducible neural specific 3 ISO mRNA:decreased expression:tongue: RGD PMID:19787213 RGD:14398487 NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770 		JBrowse link
G Cav2 caveolin 2 ISO protein:increased expression:mucosa of tongue RGD PMID:20558341 RGD:8661771 NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244 		JBrowse link
G Ccnd1 cyclin D1 ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A disease_progression ISO RGD PMID:12162767 RGD:8662376 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Egfr epidermal growth factor receptor treatment ISO RGD PMID:19380367 RGD:8551769 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:19691460 RGD:126781771 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 severity ISO RGD PMID:19691460 RGD:126781771 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Fancb FA complementation group B ISO RGD PMID:17409780 RGD:11049143 NCBI chr  X:29,403,771...29,420,484
Ensembl chr  X:29,403,771...29,420,192 		JBrowse link
G Fancc FA complementation group C ISO RGD PMID:17409780 RGD:11049143 NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376 		JBrowse link
G Fancf FA complementation group F ISO mRNA:decreased expression:tongue: RGD PMID:17409780 RGD:11049143 NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923 		JBrowse link
G Fancg FA complementation group G ISO RGD PMID:17409780 RGD:11049143 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Fanci FA complementation group I ISO RGD PMID:17409780 RGD:11049143 NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Fancl FA complementation group L ISO RGD PMID:17409780 RGD:11049143 NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255 		JBrowse link
G Fancm FA complementation group M ISO RGD PMID:17409780 RGD:11049143 NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO mRNA,protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Fosb FosB proto-oncogene, AP-1 transcription factor subunit ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465 		JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930 		JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO mRNA,protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034 		JBrowse link
G Fubp1 far upstream element binding protein 1 exacerbates ISO mRNA, protein:increased expression:tongue (human) RGD PMID:32339054 RGD:151361191 NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602 		JBrowse link
G Gja1 gap junction protein, alpha 1 IEP protein:decreased expression:epithelium RGD PMID:23568744 RGD:8662380 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:tongue: RGD PMID:20848408 RGD:8548612 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Ifng interferon gamma disease_progression IEP protein:decreased expression:serum: RGD PMID:17338814 RGD:8662972 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il10 interleukin 10 disease_progression IEP protein:increased expression:serum: RGD PMID:17338814 RGD:8662972 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 disease_progression ISO RGD PMID:25193287 RGD:39938972 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Il2 interleukin 2 IEP protein:decreased expression:serum: RGD PMID:17338814 RGD:8662972 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il33 interleukin 33 disease_progression ISO RGD PMID:25193287 RGD:39938972 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Jak3 Janus kinase 3 disease_progression IEP RGD PMID:26860129 RGD:11531126 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO mRNA,protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035 		JBrowse link
G Jund JunD proto-oncogene, AP-1 transcription factor subunit ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799 		JBrowse link
G Kdr kinase insert domain receptor treatment ISO RGD PMID:19380367 RGD:8551769 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 ISO mRNA:increased expression:tongue squamous epithelium (human) RGD PMID:28319306 RGD:150429750 NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:tongue: RGD PMID:20848408 RGD:8548612 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:tongue (human) RGD PMID:26581505 RGD:11535375 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mtus1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:22153618 RGD:25330347 NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793 		JBrowse link
G Slc1a5 solute carrier family 1 member 5 disease_progression ISO RGD PMID:24762957 RGD:151361157 NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952 		JBrowse link
G Slc3a2 solute carrier family 3 member 2 disease_progression ISO RGD PMID:24762957 RGD:151361157 NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931 		JBrowse link
G Slc7a11 solute carrier family 7 member 11 severity ISO RGD PMID:24762957 RGD:151361157 NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:24762957 RGD:151361157 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Sox2 SRY-box transcription factor 2 disease_progression ISO RGD PMID:21689966 RGD:8661665 NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338 		JBrowse link
G Tp53 tumor protein p53 IEP protein:increased expression:tongue: RGD PMID:20385474 RGD:8547851 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      cancer 5483
        organ system cancer 5237
          head and neck cancer 153
            head and neck carcinoma 144
              head and neck squamous cell carcinoma + 143
              larynx carcinoma in situ 0
              oral cavity carcinoma in situ + 1
              pharynx carcinoma in situ 0
paths to the root