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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:Otorhinolaryngologic Neoplasms
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Accession:DOID:9006815 term browser browse the term
Definition:A general concept for tumors or cancer of any part of the EAR; the NOSE; the THROAT; and the PHARYNX. It is used when there is no specific heading.
Synonyms:exact_synonym: Ootorhinolaryngeal Neoplasm;   Ootorhinolaryngeal Neoplasms;   Otorhinolaryngeal Cancer;   Otorhinolaryngeal Cancers;   Otorhinolaryngologic Neoplasm;   Otorhinolaryngological Neoplasm;   Otorhinolaryngological Neoplasms
 primary_id: MESH:D010039;   RDO:0005424


show annotations for term's descendants           Sort by:
Otorhinolaryngologic Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ataxia telangiectasia mutated severity ISO mRNA:decreased expression:pharynx,larynx (human) RGD PMID:21127011 RGD:150340703 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
acoustic neuroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Artn artemin ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 4:117,783,105...117,787,993
Ensembl chr 4:117,783,359...117,786,960 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Cav1 caveolin 1, caveolae protein ISO RGD PMID:20881564 RGD:8661782 NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 susceptibility ISO DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056 		JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923 		JBrowse link
G Nf2 neurofibromin 2 ISO protein:decreased expression:myelinated nerve:
ClinVar Annotator: match by term: Acoustic neuroma 		ClinVar
RGD		 PMID:8081368 PMID:8757035 PMID:12118253 PMID:25741868 PMID:28492532 More... RGD:8661792 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Arid4b AT-rich interaction domain 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr13:14,238,334...14,374,188
Ensembl chr13:14,237,817...14,374,188 		JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:67,928,353...68,114,596
Ensembl chr10:67,928,350...68,114,570 		JBrowse link
G Aspm abnormal spindle microtubule assembly ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829 		JBrowse link
G Atm ataxia telangiectasia mutated ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Atr ataxia telangiectasia and Rad3 related treatment ISO RGD PMID:32001675 RGD:150340693 NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 PMID:28492532 NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123 		JBrowse link
G Bcor BCL6 interacting corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:47,430,235...47,496,945
Ensembl chr  X:47,430,235...47,496,926 		JBrowse link
G Brca1 breast cancer 1, early onset ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
G Brd1 bromodomain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr15:88,571,237...88,618,508
Ensembl chr15:88,571,237...88,618,436 		JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17520682 NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
G Cmtr2 cap methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:110,941,977...110,951,121
Ensembl chr 8:110,942,297...110,951,118 		JBrowse link
G Cntn6 contactin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:104,469,566...104,840,367
Ensembl chr 6:104,469,751...104,840,367 		JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:60,749,506...60,911,005
Ensembl chr13:60,749,761...60,911,005 		JBrowse link
G Dtl denticleless E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:191,269,468...191,307,656
Ensembl chr 1:191,269,468...191,307,656 		JBrowse link
G Dtx4 deltex 4, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr19:12,443,700...12,479,509
Ensembl chr19:12,443,702...12,478,818 		JBrowse link
G Efhd1 EF hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:87,192,075...87,238,563
Ensembl chr 1:87,192,085...87,238,561 		JBrowse link
G En1 engrailed 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:120,530,246...120,535,719
Ensembl chr 1:120,530,147...120,535,721 		JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G Erbin Erbb2 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr13:103,955,294...104,057,094
Ensembl chr13:103,955,295...104,057,022 		JBrowse link
G Espl1 extra spindle pole bodies 1, separase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr15:102,204,688...102,232,792
Ensembl chr15:102,204,701...102,232,792 		JBrowse link
G Fanca Fanconi anemia, complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294 		JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505 		JBrowse link
G Fgf16 fibroblast growth factor 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:104,808,083...104,820,138
Ensembl chr  X:104,807,885...104,818,545 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572 		JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751 		JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:14,901,348...15,441,976
Ensembl chr 6:14,901,348...15,441,976 		JBrowse link
G Gas2 growth arrest specific 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:51,511,560...51,644,753
Ensembl chr 7:51,511,763...51,644,723 		JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:13,515,374...13,544,535
Ensembl chr 8:13,515,374...13,544,490 		JBrowse link
G Gins2 GINS complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:121,308,005...121,315,814
Ensembl chr 8:121,305,372...121,316,043 		JBrowse link
G Gucy1a1 guanylate cyclase 1, soluble, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:81,999,734...82,053,253
Ensembl chr 3:81,999,734...82,053,096 		JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr13:23,805,760...23,806,541
Ensembl chr13:23,804,612...23,806,541 		JBrowse link
G H2ac8 H2A clustered histone 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr13:23,754,837...23,755,394
Ensembl chr13:23,754,691...23,755,394 		JBrowse link
G Homer3 homer scaffolding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:70,735,529...70,747,011
Ensembl chr 8:70,735,477...70,747,011 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659 		JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:72,863,650...72,891,633
Ensembl chr 1:72,863,662...72,891,633 		JBrowse link
G Il17rd interleukin 17 receptor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr14:26,760,990...26,829,243
Ensembl chr14:26,760,898...26,829,243 		JBrowse link
G Insrr insulin receptor-related receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:87,704,215...87,723,408
Ensembl chr 3:87,704,258...87,723,408 		JBrowse link
G Irx4 Iroquois homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:73,407,708...73,417,741
Ensembl chr13:73,408,598...73,417,727 		JBrowse link
G Isyna1 myo-inositol 1-phosphate synthase A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:71,047,131...71,049,940
Ensembl chr 8:71,047,023...71,049,940 		JBrowse link
G Itgb4 integrin beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238 		JBrowse link
G Jag1 jagged 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Jmjd1c jumonji domain containing 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:66,932,189...67,092,105
Ensembl chr10:66,931,904...67,092,105 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:104,224,327...104,360,584
Ensembl chr11:104,224,055...104,359,687 		JBrowse link
G Kat6a K(lysine) acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275 		JBrowse link
G Kdm6a lysine (K)-specific demethylase 6A exacerbates ISO 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:18,027,101...18,147,061
Ensembl chr  X:18,028,814...18,146,175 		JBrowse link
G Kdm6b KDM1 lysine (K)-specific demethylase 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:69,289,334...69,311,188
Ensembl chr11:69,289,334...69,304,501 		JBrowse link
G Kmt2c lysine (K)-specific methyltransferase 2C disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23685749 PMID:31483290 RGD:150429736 NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781 		JBrowse link
G Krt15 keratin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:100,022,585...100,026,775
Ensembl chr11:100,022,584...100,026,754 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333 		JBrowse link
G Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:93,652,434...94,260,906
Ensembl chr 6:93,652,436...94,260,898 		JBrowse link
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:19,431,787...20,909,790
Ensembl chr 5:19,432,034...20,909,790 		JBrowse link
G Maml3 mastermind like transcriptional coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:51,595,032...52,012,740
Ensembl chr 3:51,593,328...52,012,497 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:37,009,239...37,014,922
Ensembl chr10:37,009,371...37,014,916 		JBrowse link
G Mark2 MAP/microtubule affinity regulating kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:7,252,761...7,319,222
Ensembl chr19:7,252,761...7,319,225 		JBrowse link
G Mga MAX gene associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:119,702,974...119,800,610
Ensembl chr 2:119,727,709...119,800,062 		JBrowse link
G Mier2 MIER family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:79,376,079...79,395,229
Ensembl chr10:79,376,079...79,391,033 		JBrowse link
G Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr15:88,840,087...88,863,192
Ensembl chr15:88,840,087...88,863,210 		JBrowse link
G Morf4l1 mortality factor 4 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 9:89,973,722...89,996,873
Ensembl chr 9:89,973,718...89,996,827 		JBrowse link
G Myb myeloblastosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 PMID:26829750 NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883 		JBrowse link
G Mybl1 myeloblastosis oncogene-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:9,737,632...9,770,664
Ensembl chr 1:9,737,640...9,770,434 		JBrowse link
G Mycbp MYC binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:123,798,806...123,806,043
Ensembl chr 4:123,798,625...123,806,062 		JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
G Neto2 neuropilin (NRP) and tolloid (TLL)-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:86,363,347...86,428,011
Ensembl chr 8:86,363,217...86,427,553 		JBrowse link
G Nfib nuclear factor I/B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:82,208,410...82,424,988
Ensembl chr 4:82,208,410...82,623,987 		JBrowse link
G Notch1 notch 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Nsd1 nuclear receptor-binding SET-domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138 		JBrowse link
G Ntrk3 neurotrophic tyrosine kinase, receptor, type 3 treatment ISO RGD PMID:23027130 RGD:150519921 NCBI chr 7:77,825,711...78,228,865
Ensembl chr 7:77,825,707...78,387,760 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr  X:7,786,061...7,790,649
Ensembl chr  X:7,786,061...7,790,649 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:96,736,772...96,778,242
Ensembl chr 3:96,736,600...96,778,242 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Prkdc protein kinase, DNA activated, catalytic polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr16:15,455,698...15,660,103
Ensembl chr16:15,455,730...15,660,099 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Pygb brain glycogen phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:150,628,716...150,673,668
Ensembl chr 2:150,628,655...150,673,678 		JBrowse link
G Rbfox2 RNA binding protein, fox-1 homolog (C. elegans) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr15:76,963,190...77,193,058
Ensembl chr15:76,963,190...77,191,204 		JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		JBrowse link
G Setd2 SET domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,358,262...110,447,701 		JBrowse link
G Slc24a3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:145,009,695...145,484,086
Ensembl chr 2:145,009,674...145,484,086 		JBrowse link
G Slc3a2 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 disease_progression ISO RGD PMID:23516127 RGD:151361211 NCBI chr19:8,684,931...8,700,733
Ensembl chr19:8,684,246...8,700,733 		JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 disease_progression ISO RGD PMID:23516127 RGD:151361211 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722 		JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:99,099,873...99,121,843
Ensembl chr11:99,099,873...99,121,843 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:150,799,386...150,844,969
Ensembl chr  X:150,799,424...150,845,690 		JBrowse link
G Son Son DNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:91,444,712...91,476,080
Ensembl chr16:91,444,394...91,476,109 		JBrowse link
G Sox11 SRY (sex determining region Y)-box 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573 		JBrowse link
G Sox4 SRY (sex determining region Y)-box 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696 		JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:127,111,155...127,160,391
Ensembl chr 7:127,111,155...127,160,391
Ensembl chr 7:127,111,155...127,160,391 		JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 9:34,957,872...35,028,160
Ensembl chr 9:34,957,872...35,030,564 		JBrowse link
G Tlk1 tousled-like kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:70,542,751...70,656,505
Ensembl chr 2:70,542,751...70,656,072 		JBrowse link
G Top2a topoisomerase (DNA) II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:98,883,773...98,915,037
Ensembl chr11:98,883,769...98,915,015 		JBrowse link
G Trp53 transformation related protein 53 disease_progression ISO ClinVar Annotator: match by term: Adenocystic carcinoma
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:1673792 PMID:1686725 PMID:7707106 PMID:7881428 PMID:8080050 More... RGD:8547828 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Uhrf1 ubiquitin-like, containing PHD and RING finger domains, 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:56,610,405...56,630,486
Ensembl chr17:56,610,321...56,630,486 		JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:89,803,429...89,891,146
Ensembl chr13:89,803,431...89,890,628 		JBrowse link
G Wnt5b wingless-type MMTV integration site family, member 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:119,409,493...119,521,847
Ensembl chr 6:119,409,492...119,521,308 		JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO DNA:hypermethylation:3' utr: (human) RGD PMID:21692051 RGD:11041796 NCBI chr 2:146,854,672...146,919,922
Ensembl chr 2:146,854,916...146,919,920 		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 IMP RGD PMID:10489374 RGD:150540314 NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153 		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 ataxia telangiectasia and Rad3 related ISO ClinVar Annotator: match by term: Cutaneous telangiectasia and cancer syndrome, familial | 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 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834 		JBrowse link
glottis squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wrap53 WD repeat containing, antisense to Trp53 disease_progression ISO RGD PMID:28849066 RGD:21081521 NCBI chr11:69,452,580...69,471,076
Ensembl chr11:69,452,584...69,471,081 		JBrowse link
Hypopharyngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sod2 superoxide dismutase 2, mitochondrial susceptibility ISO DNA:polymorphism: :rs5746134(human) RGD PMID:21940907 RGD:8158078 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
laryngeal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 disease_progression ISO protein:increased expression:larynx (human) RGD PMID:16494043 RGD:152025548 NCBI chr 1:90,131,702...90,143,446
Ensembl chr 1:90,131,702...90,144,473 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO protein:increased expression:larynx (human) RGD PMID:16494043 RGD:152025548 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Kmt2c lysine (K)-specific methyltransferase 2C ISO mRNA:decreased expression:larynx RGD PMID:25633166 RGD:151356763 NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 severity ISO RGD PMID:20164024 RGD:150573814 NCBI chr16:10,601,672...10,603,400
Ensembl chr16:10,600,104...10,603,400 		JBrowse link
G Traf6 TNF receptor-associated factor 6 disease_progression ISO RGD PMID:20164024 RGD:150573814 NCBI chr 2:101,508,765...101,532,013
Ensembl chr 2:101,508,774...101,532,014 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 exacerbates ISO mRNA, protein:increased expression:larynx (human) RGD PMID:32468011 RGD:151665191 NCBI chr15:37,966,421...38,084,103
Ensembl chr15:37,967,572...38,079,098 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 susceptibility ISO DNA:missense mutation:cds: p.R280H (human)
DNA:SNPs, haplotype:: (rs3213403, rs1799778, rs3213282) (human) 		RGD PMID:27808358 PMID:24956286 RGD:151236313, RGD:151236314 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
Laryngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 3:137,903,828...137,937,803
Ensembl chr 3:137,923,521...137,939,143 		JBrowse link
G Egfr epidermal growth factor receptor severity ISO protein:increased expression:tumor (human) RGD PMID:8883413 RGD:5131485 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 susceptibility ISO DNA:snp:exon:c.354T>C (human) (rs11615) RGD PMID:24582975 RGD:13207310 NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449 		JBrowse link
G Gstm3 glutathione S-transferase, mu 3 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 3:107,871,019...107,876,484
Ensembl chr 3:107,871,012...107,876,599 		JBrowse link
G Gstp1 glutathione S-transferase, pi 1 ISO protein:increased expression:larynx RGD PMID:18335753 RGD:4140949 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		JBrowse link
G Mir10a microRNA 10a sexual_dimorphism ISO miRNA:decreased expression:larynx epithelium (human) RGD PMID:25266939 RGD:153344531 NCBI chr11:96,207,991...96,208,100
Ensembl chr11:96,207,991...96,208,100 		JBrowse link
G Mir34c microRNA 34c sexual_dimorphism ISO miRNA:increased expression:larynx epithelium (human) RGD PMID:25266939 RGD:153344531 NCBI chr 9:51,014,334...51,014,410
Ensembl chr 9:51,014,334...51,014,410 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:17786346 RGD:5130203 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Nat1 N-acetyl transferase 1 susceptibility ISO DNA:polymorphism: : RGD PMID:12037388 RGD:5131864 NCBI chr 8:67,943,620...67,945,183
Ensembl chr 8:67,933,573...67,944,756 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 severity ISO protein:increased expression:larynx RGD PMID:20429377 RGD:5135434 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16299231 RGD:1581365 NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916 		JBrowse link
Laryngeal Papillomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:19736197 RGD:5135499 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Serpina3b serine (or cysteine) peptidase inhibitor, clade A, member 3B ISO protein:decreased expression:serum RGD PMID:16273852 RGD:5147435 NCBI chr12:104,094,245...104,105,805
Ensembl chr12:104,094,255...104,105,804 		JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N ISO protein:decreased expression:serum RGD PMID:16273852 RGD:5147435 NCBI chr12:104,372,967...104,380,588
Ensembl chr12:104,372,988...104,380,588 		JBrowse link
G Tap1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) ISO RGD PMID:10618282 RGD:5147846 NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199 		JBrowse link
laryngeal 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:decreased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Cat catalase ISO protein:increased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Cdc73 cell division cycle 73, Paf1/RNA polymerase II complex component disease_progression ISO protein:decreased expression:larynx (human) RGD PMID:27334641 RGD:150539447 NCBI chr 1:143,479,014...143,578,631
Ensembl chr 1:143,474,538...143,578,631 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO RGD PMID:15646812 RGD:8662837 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 exacerbates ISO mRNA:increased expression:larynx (human) RGD PMID:33315534 RGD:153323310 NCBI chr 6:125,073,144...125,107,554
Ensembl chr 6:125,072,944...125,107,554 		JBrowse link
G Egfr epidermal growth factor receptor disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:22549618 RGD:126790474 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 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218 		JBrowse link
G Foxl2 forkhead box L2 exacerbates ISO mRNA:increased expression:larynx (human) RGD PMID:32517588 RGD:151667913 NCBI chr 9:98,837,495...98,840,601
Ensembl chr 9:98,837,341...98,840,596 		JBrowse link
G Gpx1 glutathione peroxidase 1 disease_progression
no_association 		ISO protein:increased expression:larynx (human)
DNA:missense mutation:CDS:p.P198L (human)
DNA:missense mutation:CDS:p.P198L (rs1050450) (human) 		RGD PMID:28641905 PMID:24074040 PMID:27188866 RGD:152995454, RGD:152995493, RGD:152995455 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 severity ISO associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) RGD PMID:19513509 RGD:150429781 NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123 		JBrowse link
G Mir10a microRNA 10a severity ISO miRNA:decreased expression:blood serum (human) RGD PMID:35117730 RGD:153344530 NCBI chr11:96,207,991...96,208,100
Ensembl chr11:96,207,991...96,208,100 		JBrowse link
G Mir136 microRNA 136 ISO RNA:decreased expression:larynx (human) RGD PMID:32014687 RGD:153344610 NCBI chr12:109,561,761...109,561,822
Ensembl chr12:109,561,761...109,561,822 		JBrowse link
G Mir21a microRNA 21a exacerbates ISO miRNA:increased expression:blood serum (human) RGD PMID:35117730 RGD:153344530 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Mir31 microRNA 31 disease_progression ISO RNA:decreased expression:mucosa of larynx (human) RGD PMID:29737563 RGD:152998933 NCBI chr 4:88,828,794...88,828,899
Ensembl chr 4:88,828,794...88,828,899 		JBrowse link
G Mlh1 mutL homolog 1 disease_progression ISO mRNA:decreased expression:larynx RGD PMID:23787767 RGD:126848783 NCBI chr 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:17786346 RGD:5130203 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Msh2 mutS homolog 2 disease_progression ISO mRNA:decreased expression:larynx RGD PMID:23787767 RGD:126848783 NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO DNA:polymorphisms: : RGD PMID:19922706 PMID:16155914 RGD:5131602, RGD:5131856 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ameliorates ISO mRNA:increased expression:larynx (human) RGD PMID:33466212 RGD:151665160 NCBI chr 2:160,573,230...160,617,680
Ensembl chr 2:160,573,220...160,617,680 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) severity ISO associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) RGD PMID:19513509 RGD:150429781 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Xdh xanthine dehydrogenase ISO protein:increased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 ISO ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma ClinVar NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
larynx cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcl12 C-X-C motif chemokine ligand 12 exacerbates ISO protein:increased expression: mucosa of larynx (human) RGD PMID:23259294 RGD:152177474 NCBI chr 6:117,145,496...117,158,329
Ensembl chr 6:117,145,496...117,158,328 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 exacerbates ISO protein:increased expression: mucosa of larynx (human) RGD PMID:23259294 RGD:152177474 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 susceptibility ISO DNA:missense mutation:CDS:p.D1104H (human) RGD PMID:19444904 RGD:155260337 NCBI chr 1:44,184,084...44,220,399
Ensembl chr 1:44,186,904...44,220,420 		JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 susceptibility ISO DNA:missense mutation:CDS:p.R1230P (human) RGD PMID:19444904 RGD:155260337 NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947 		JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO DNA:missense mutation:CDS: (rs1050450) (human) RGD PMID:23516596 RGD:152998903 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO DNA:deletion: : RGD PMID:19252926 RGD:4140943 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 3:107,803,240...107,806,002
Ensembl chr 3:107,803,137...107,806,002 		JBrowse link
G Map2k7 mitogen-activated protein kinase kinase 7 ameliorates ISO mRNA:increased expression:larynx (human) RGD PMID:32791689 RGD:155256869 NCBI chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 onset ISO DNA:insertion:Cds: 3020_3021insC (human) RGD PMID:20223031 RGD:5131515 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO RGD PMID:20967863 RGD:126925200 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
maxillary sinus squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO RGD PMID:15040115 RGD:8662355 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
nasal cavity adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:19903339 RGD:9014708 NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996 		JBrowse link
nasal cavity cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox2 SRY (sex determining region Y)-box 2 ISO DNA:amplification RGD PMID:23544055 RGD:8661654 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 RGD PMID:19950227 RGD:8547762 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
nasal type extranodal NK/T-cell lymphoma 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 severity ISO Nasal Type;protein:increased expression:nasal cavity (human) RGD PMID:18756548 RGD:8657087 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575 		JBrowse link
G Cd274 CD274 antigen disease_progression ISO associated with Epstein-Barr Virus Infections RGD PMID:27595782 RGD:41412182 NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15924153 NCBI chr 1:58,750,353...58,798,043
Ensembl chr 1:58,750,667...58,798,043 		JBrowse link
G Fas Fas cell surface death receptor ISO DNA:insertion, deletions:cds:multiple (human) RGD PMID:12466128 RGD:8662407 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Gpx3 glutathione peroxidase 3 treatment ISO associated with ethmoid sinus cancer and Neoplasm Metastasis RGD PMID:29496492 RGD:151708712 NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203 		JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22705984 PMID:23689514 NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219 		JBrowse link
G Prdm1 PR domain containing 1, with ZNF domain disease_progression ISO RGD PMID:24438193 RGD:150530467 NCBI chr10:44,313,170...44,404,579
Ensembl chr10:44,313,173...44,404,497 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased expression:nasal cavity (human) RGD PMID:17225522 RGD:153298933 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chr11:100,671,557...100,741,407
Ensembl chr11:100,671,557...100,741,550 		JBrowse link
Nasopharyngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 onset ISO DNA:polymorphism: :870A>G RGD PMID:18355450 RGD:2296033 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Ctps1 cytidine 5'-triphosphate synthase 1 ISO mRNA:increased expression:nasopharynx (human) RGD PMID:19302751 RGD:5132859 NCBI chr 4:120,397,065...120,427,473
Ensembl chr 4:120,397,065...120,427,473 		JBrowse link
G Cyp2a5 cytochrome P450, family 2, subfamily a, polypeptide 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16377082 NCBI chr 7:26,534,764...26,542,689
Ensembl chr 7:26,534,730...26,542,973 		JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17032313 NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786012 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr 3:30,005,445...30,563,937
Ensembl chr 3:30,005,445...30,602,157 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17607721 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Rassf2 Ras association (RalGDS/AF-6) domain family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17013896 NCBI chr 2:131,834,770...131,872,336
Ensembl chr 2:131,831,335...131,872,178 		JBrowse link
G Tnfrsf19 tumor necrosis factor receptor superfamily, member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr14:61,201,283...61,284,304
Ensembl chr14:61,201,324...61,283,939 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:1631151 PMID:6736287 PMID:7707106 PMID:7885831 PMID:8023157 More... RGD:1331525 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17384664 NCBI chr10:120,869,909...120,936,547
Ensembl chr10:120,869,865...120,936,555 		JBrowse link
nasopharynx carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A disease_progression ISO protein:decreased expression:nasopharynx(human) RGD PMID:31213911 RGD:126781707 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Atm ataxia telangiectasia mutated treatment ISO protein:decreased expression:epithelium of nasopharynx (human)
associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human) 		RGD PMID:29230817 PMID:19142888 PMID:28820634 RGD:126779560, RGD:126790562, RGD:150340692 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Atr ataxia telangiectasia and Rad3 related treatment ISO RGD PMID:28820634 RGD:150340692 NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 disease_progression ISO protein:increased expression:epithelium of nasopharynx (human) RGD PMID:12099337 RGD:11526103 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Brca1 breast cancer 1, early onset ISO DNA:nonsense mutation: :p.Q563* (human) RGD PMID:28857155 RGD:127229936 NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase ISO mRNA:decreased expression:nasopharynx (human) RGD PMID:33096113 RGD:151347855 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		JBrowse link
G Calr calreticulin exacerbates
disease_progression 		ISO protein:increased expression:epithelium of nasopharynx (human) RGD PMID:31632490 PMID:31956372 RGD:150520157, RGD:150521689 NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563 		JBrowse link
G Ccnd2 cyclin D2 disease_progression ISO RGD PMID:20473882 RGD:151665334 NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156 		JBrowse link
G Cd163 CD163 antigen exacerbates ISO protein:increased expression:nasopharynx, macrophage (human) RGD PMID:28395580 RGD:127285800 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486 		JBrowse link
G Chrna5 cholinergic receptor, nicotinic, alpha polypeptide 5 susceptibility ISO DNA:SNP: :rs3841324(human) RGD PMID:25329654 RGD:150527838 NCBI chr 9:54,888,112...54,918,704
Ensembl chr 9:54,888,164...54,915,063 		JBrowse link
G Clptm1l CLPTM1-like susceptibility ISO DNA:SNP: :rs401681(human)
protein:increased expression:nasopharynx
DNA:SNP:intron:rs31489(human) 		RGD PMID:26621837 PMID:26621837 PMID:26545403 PMID:31270100 RGD:11564613, RGD:11564613, RGD:11556976, RGD:150537099 NCBI chr13:73,752,121...73,768,758
Ensembl chr13:73,752,125...73,768,724 		JBrowse link
G Cr2 complement receptor 2 susceptibility ISO DNA:SNP:5'UTR:24T>C (rs3813946)(human) RGD PMID:23612877 RGD:127338247 NCBI chr 1:194,819,120...194,859,096
Ensembl chr 1:194,819,119...194,859,024 		JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment ISO RGD PMID:22267178 RGD:150524299 NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression
exacerbates 		ISO mRNA:increased expression:nasopharynx (human)
protein:increased expression:nasopharynx (human) 		RGD PMID:26611644 PMID:15978137 RGD:152023644, RGD:152177484 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:SNP: :rs2031920 (human) RGD PMID:26582733 RGD:11061495 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G Dab2ip disabled 2 interacting protein disease_progression ISO mRNA,protein:decreased expression:epithelium of nasopharynx (human) RGD PMID:28586035 RGD:151665144 NCBI chr 2:35,448,285...35,621,006
Ensembl chr 2:35,448,278...35,621,006 		JBrowse link
G Ddr2 discoidin domain receptor family, member 2 ISO mRNA:increased expression:epithelium of nasopharynx RGD PMID:18023033 RGD:150429715 NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331 		JBrowse link
G Efnb2 ephrin B2 disease_progression ISO protein:increased expression:nasopharynx (human) RGD PMID:23631129 RGD:153305949 NCBI chr 8:8,667,235...8,711,242
Ensembl chr 8:8,667,434...8,711,242 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:24825912 RGD:126781774 NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO mRNA, protein:increased expression:ventral nasal meatus RGD PMID:21300475 RGD:126779603 NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 severity ISO protein:increased expression:nasopharynx (human) RGD PMID:26535066 RGD:150520063 NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Fosl2 fos-like antigen 2 ISO mRNA:increased expression:nasopharynx (human) RGD PMID:30326930 RGD:153344557 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 protein:increased expression:nasopharynx (human) RGD PMID:26469968 RGD:11343512 NCBI chr 3:151,916,059...151,942,467
Ensembl chr 3:151,916,059...151,942,463 		JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO DNA:missense mutation:CDS:p.P198L (human) RGD PMID:33616746 RGD:152995452 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO protein:decreased expression:nasopharynx (human) RGD PMID:26681223 RGD:150539449 NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 no_association ISO DNA:SNP: :1270533T>G (human) RGD PMID:24711137 PMID:19448408 RGD:14700933, RGD:14700955 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Jak2 Janus kinase 2 severity ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:30123088 RGD:149735327 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480 		JBrowse link
G Kdm3a lysine (K)-specific demethylase 3A severity ISO protein:decreased expression:nasopharyngeal epithelium (human) RGD PMID:21541331 RGD:9590228 NCBI chr 6:71,565,954...71,609,963
Ensembl chr 6:71,565,956...71,609,974 		JBrowse link
G Kdr kinase insert domain protein receptor disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Kmt2c lysine (K)-specific methyltransferase 2C ISO RGD PMID:31646828 RGD:151356762 NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781 		JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 ameliorates ISO DNA:SNP:promoter: -1304T>G, -1304G>G (human)
associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human) 		RGD PMID:27373035 PMID:21702039 RGD:150429759, RGD:150429763 NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123 		JBrowse link
G Mapk14 mitogen-activated protein kinase 14 treatment ISO human cell line in a mouse model RGD PMID:32449282 RGD:151665502 NCBI chr17:28,910,316...28,967,379
Ensembl chr17:28,910,303...28,967,380 		JBrowse link
G Mir132 microRNA 132 treatment ISO RGD PMID:29442000 RGD:151665745 NCBI chr11:75,064,508...75,064,573
Ensembl chr11:75,064,508...75,064,573 		JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:nasopharynx RGD PMID:28000885 RGD:19165149 NCBI chr11:96,741,219...96,741,291
Ensembl chr11:96,741,219...96,741,291 		JBrowse link
G Mir154 microRNA 154 disease_progression ISO RNA:decreased expression:epithelium of nasopharynx (human) RGD PMID:32214824 RGD:152995464 NCBI chr12:109,704,867...109,704,932
Ensembl chr12:109,704,867...109,704,932 		JBrowse link
G Mir222 microRNA 222 ISO RNA:increased expression:nasopharynx RGD PMID:29115464 RGD:151708744 NCBI chr  X:19,013,132...19,013,210
Ensembl chr  X:19,013,132...19,013,210 		JBrowse link
G Mir31 microRNA 31 disease_progression
ameliorates 		ISO RNA:decreased expression:peripheral blood mononuclear cell (human)
Human cells in mouse model 		RGD PMID:31129965 PMID:25098679 RGD:152998936, RGD:152998921 NCBI chr 4:88,828,794...88,828,899
Ensembl chr 4:88,828,794...88,828,899 		JBrowse link
G Mir423 microRNA 423 disease_progression ISO mRNA:decreased expression:nasopharynx (human) RGD PMID:30326930 RGD:153344557 NCBI chr11:76,968,890...76,968,998
Ensembl chr11:76,968,890...76,968,998 		JBrowse link
G Mst1r macrophage stimulating 1 receptor (c-met-related tyrosine kinase) susceptibility ISO ClinVar Annotator: match by term: MST1R-related condition | ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3 OMIM
ClinVar		 PMID:25741868 PMID:26951679 PMID:28492532 NCBI chr 9:107,784,057...107,797,582
Ensembl chr 9:107,784,072...107,797,582 		JBrowse link
G Muc5b mucin 5, subtype B, tracheobronchial ISO RGD PMID:19068094 RGD:2325214 NCBI chr 7:141,392,796...141,426,826
Ensembl chr 7:141,392,807...141,426,821 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma ClinVar PMID:10480349 PMID:11182931 PMID:11333381 PMID:11349231 PMID:12408188 More... NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457 		JBrowse link
G Ppia peptidylprolyl isomerase A ISO mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human) RGD PMID:31063269 RGD:150429622 NCBI chr11:6,365,867...6,369,817
Ensembl chr11:6,365,443...6,369,817 		JBrowse link
G Rac1 Rac family small GTPase 1 exacerbates ISO protein:increased expression:nasopharynx (human) RGD PMID:19506399 RGD:153350125 NCBI chr 5:143,491,236...143,513,786
Ensembl chr 5:143,489,389...143,513,791 		JBrowse link
G Rad52 RAD52 homolog, DNA repair protein severity ISO protein:increased expression:nasopharynx (human) RGD PMID:25026830 RGD:151361208 NCBI chr 6:119,878,781...119,899,789
Ensembl chr 6:119,879,659...119,899,789 		JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr18:10,617,796...10,628,230
Ensembl chr18:10,617,775...10,642,079 		JBrowse link
G Snrpe small nuclear ribonucleoprotein E ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 1:133,531,609...133,538,018
Ensembl chr 1:133,531,609...133,538,029 		JBrowse link
G Snrpf small nuclear ribonucleoprotein polypeptide F ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr10:93,418,891...93,425,520
Ensembl chr10:93,418,891...93,425,568 		JBrowse link
G Snrpg small nuclear ribonucleoprotein polypeptide G ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 6:86,348,522...86,355,884
Ensembl chr 6:86,348,286...86,356,310 		JBrowse link
G Spen spen family transcription repressor disease_progression ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:32641685 RGD:151347437 NCBI chr 4:141,195,199...141,265,955
Ensembl chr 4:141,195,201...141,265,908 		JBrowse link
G Src Rous sarcoma oncogene disease_progression ISO RGD PMID:27078847 RGD:150521726 NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 severity ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:30123088 RGD:149735327 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Tert telomerase reverse transcriptase ISO protein:increased expression:nasopharynx RGD PMID:26621837 RGD:11564613 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 severity ISO human cells in mouse model RGD PMID:32774157 RGD:150429610 NCBI chr 3:133,169,438...133,250,882
Ensembl chr 3:133,169,440...133,250,900 		JBrowse link
G Tnfaip3 tumor necrosis factor, alpha-induced protein 3 treatment ISO RGD PMID:26149137 RGD:151347434 NCBI chr10:18,876,658...18,891,158
Ensembl chr10:18,876,658...18,891,405 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma ClinVar
OMIM
RGD		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1631151 More... RGD:8547825 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression
severity 		ISO protein:increased expression:mucosa of nasopharynx (human)
protein:increased expression:nasopharynx (human) 		RGD PMID:16480593 PMID:30123088 PMID:23631129 RGD:126925191, RGD:149735327, RGD:153305949 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Wrap53 WD repeat containing, antisense to Trp53 ISO associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium RGD PMID:28607398 RGD:21081524 NCBI chr11:69,452,580...69,471,076
Ensembl chr11:69,452,584...69,471,081 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 treatment
sexual_dimorphism
susceptibility 		ISO DNA:SNP:3'utr: (rs25489) (human)
DNA:missense mutation:cds: p.R194W (human)
associated with Tobacco Use Disorder; DNA:missense mutation:cds: p.R399Q (human)
DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human) 		RGD PMID:29108254 PMID:16796765 PMID:27356695 PMID:24175791 PMID:17630853 RGD:150530619, RGD:150573694, RGD:150573697, RGD:150573698, RGD:150573708 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
Nose Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmbt1 deleted in malignant brain tumors 1 ISO mRNA, Protein:increased expression RGD PMID:12419858 RGD:1599782 NCBI chr 7:130,633,787...130,723,357
Ensembl chr 7:130,633,776...130,723,357 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16178123 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
Oropharyngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		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 Trp53 transformation related protein 53 disease_progression ISO RGD PMID:11072161 RGD:8547874 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
oropharynx cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 Ern1 endoplasmic reticulum to nucleus signalling 1 disease_progression ISO RGD PMID:31187548 RGD:32716423 NCBI chr11:106,285,474...106,378,701
Ensembl chr11:106,285,476...106,378,678 		JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:28347920 RGD:24922223 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
paranasal sinus benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa1 annexin A1 ISO RGD PMID:20970165 RGD:7421559 NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308 		JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20970165 RGD:7421559 NCBI chr 9:69,360,978...69,399,074
Ensembl chr 9:69,360,902...69,399,077 		JBrowse link
G Trp53 transformation related protein 53 treatment ISO DNA:mutations:cds: RGD PMID:22575263 PMID:23369851 RGD:8547763, RGD:8547764 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
Pharyngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 3:137,903,828...137,937,803
Ensembl chr 3:137,923,521...137,939,143 		JBrowse link
pharynx squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clptm1l CLPTM1-like sexual_dimorphism ISO in males;DNA:SNP: :rs401681(human) RGD PMID:31429604 RGD:150530637 NCBI chr13:73,752,121...73,768,758
Ensembl chr13:73,752,125...73,768,724 		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 ISO RGD PMID:28668836 RGD:24922215 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092 		JBrowse link
G Mtus1 mitochondrial tumor suppressor 1 disease_progression ISO RGD PMID:25885343 RGD:25330345 NCBI chr 8:41,443,949...41,587,318
Ensembl chr 8:41,443,951...41,586,763 		JBrowse link
G Xrcc4 X-ray repair complementing defective repair in Chinese hamster cells 4 susceptibility ISO DNA:SNP:intron: (rs13180356) (human) RGD PMID:26035306 RGD:151361290 NCBI chr13:89,997,033...90,237,727
Ensembl chr13:89,922,146...90,237,727 		JBrowse link
sinonasal undifferentiated carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maml3 mastermind like transcriptional coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr 3:51,595,032...52,012,740
Ensembl chr 3:51,593,328...52,012,497 		JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO RGD PMID:30120966 RGD:127285653 NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
tonsil cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
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 ISO associated with human papillomavirus;protein:decreased expression:tumor cells (human) RGD PMID:30061236 RGD:36947883 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
vestibular schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor protein complex AP-1, beta 1 subunit ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,897,320...4,992,731
Ensembl chr11:4,936,824...4,992,791 		JBrowse link
G Ascc2 activating signal cointegrator 1 complex subunit 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,587,698...4,635,699
Ensembl chr11:4,587,747...4,635,699 		JBrowse link
G Cabp7 calcium binding protein 7 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,686,892...4,697,179
Ensembl chr11:4,686,892...4,696,778 		JBrowse link
G Ccdc117 coiled-coil domain containing 117 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,478,887...5,492,217
Ensembl chr11:5,478,887...5,492,187 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		JBrowse link
G Emid1 EMI domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,056,265...5,102,322
Ensembl chr11:5,056,265...5,102,257 		JBrowse link
G Ewsr1 Ewing sarcoma breakpoint region 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,019,687...5,049,314
Ensembl chr11:5,019,689...5,049,266 		JBrowse link
G Gas2l1 growth arrest-specific 2 like 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,004,131...5,015,351
Ensembl chr11:5,004,132...5,015,327 		JBrowse link
G Gm30172 predicted gene, 30172 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,225,262...5,225,571 JBrowse link
G Hscb HscB iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr 5:110,976,945...110,987,647
Ensembl chr 5:110,976,936...110,987,643 		JBrowse link
G Kremen1 kringle containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,141,551...5,212,220
Ensembl chr11:5,141,552...5,211,558 		JBrowse link
G Mtmr3 myotubularin related protein 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,430,867...4,544,863
Ensembl chr11:4,430,867...4,544,863 		JBrowse link
G Nefh neurofilament, heavy polypeptide ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064 		JBrowse link
G Nf2 neurofibromin 2 ISO
IAGP 		ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2
OMIM:101000
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1479598 PMID:2543905 PMID:3313277 PMID:4000972 PMID:7535084 More... RGD:151708708, RGD:151708704 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		JBrowse link
G Nipsnap1 nipsnap homolog 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,823,951...4,844,201
Ensembl chr11:4,823,951...4,844,200 		JBrowse link
G Rasl10a RAS-like, family 10, member A ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,008,128...5,010,385
Ensembl chr11:5,008,128...5,010,385 		JBrowse link
G Rhbdd3 rhomboid domain containing 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,048,282...5,056,100
Ensembl chr11:5,048,926...5,056,093 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) RGD PMID:28365909 RGD:151708708 NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
G Thoc5 THO complex 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,845,339...4,878,867
Ensembl chr11:4,845,320...4,878,867 		JBrowse link
G Uqcr10 ubiquinol-cytochrome c reductase, complex III subunit X ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,651,968...4,654,344
Ensembl chr11:4,651,973...4,654,342 		JBrowse link
G Vegfa vascular endothelial growth factor A IMP
ISO 		RGD PMID:20406973 PMID:19587327 RGD:8547955, RGD:8547957 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Xbp1 X-box binding protein 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893 		JBrowse link
G Zmat5 zinc finger, matrin type 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:4,654,671...4,687,669
Ensembl chr11:4,654,678...4,687,669 		JBrowse link
G Znrf3 zinc and ring finger 3 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr11:5,226,329...5,394,847
Ensembl chr11:5,226,324...5,394,847 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16271
    sensory system disease 7186
      Otorhinolaryngologic Diseases 1796
        Otorhinolaryngologic Neoplasms 261
          Ear Neoplasms + 0
          Laryngeal Neoplasms + 51
          Nose Neoplasms + 20
          Pharyngeal Neoplasms + 178
          acoustic neuroma + 34
Path 2
Term Annotations click to browse term
  disease 16271
    disease of anatomical entity 15863
      nervous system disease 13797
        Neurologic Manifestations 10211
          sensory system disease 7186
            Otorhinolaryngologic Diseases 1796
              Otorhinolaryngologic Neoplasms 261
                Ear Neoplasms + 0
                Laryngeal Neoplasms + 51
                Nose Neoplasms + 20
                Pharyngeal Neoplasms + 178
                acoustic neuroma + 34
paths to the root