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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


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Otorhinolaryngologic Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase severity ISO mRNA:decreased expression:pharynx,larynx (human) RGD PMID:21127011 RGD:150340703 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		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 1:43,233,097...43,239,044 JBrowse link
G BDNF brain derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239 		JBrowse link
G CAV1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 Ensembl chr10:134,839,025...134,852,719 JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362 		JBrowse link
G IGF1 insulin like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177 		JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Acoustic neuroma ClinVar PMID:8081368 PMID:8757035 PMID:12118253 PMID:25741868 PMID:28492532 NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
adenoid cystic carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP1 aquaporin 1 (Colton blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G ARID4B AT-rich interaction domain 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:210,711,946...210,874,034
Ensembl chr 1:215,729,783...215,888,412 		JBrowse link
G ARID5B AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:58,426,519...58,621,986
Ensembl chr10:60,756,484...60,952,174 		JBrowse link
G ASPM assembly factor for spindle microtubules ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810 		JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G ATR ATR serine/threonine kinase treatment ISO RGD PMID:32001675 RGD:150340693 NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261 		JBrowse link
G ATRX ATRX chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:66,682,968...66,969,421
Ensembl chr  X:76,795,574...77,083,486 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 PMID:28492532 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943 		JBrowse link
G BCL11A BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800 		JBrowse link
G BCOR BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:32,497,931...32,624,307
Ensembl chr  X:40,202,235...40,249,986 		JBrowse link
G BCORL1 BCL6 corepressor like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:119,108,049...119,185,165
Ensembl chr  X:129,403,888...129,479,297 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815 		JBrowse link
G BRD1 bromodomain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr22:29,993,902...30,048,349
Ensembl chr22:48,998,037...49,048,101 		JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:64,737,006...64,750,353 JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17520682 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		JBrowse link
G CMTR2 cap methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr16:53,727,087...53,734,555 JBrowse link
G CREBBP CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206 		JBrowse link
G DAPK1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958 		JBrowse link
G DTL denticleless E3 ubiquitin protein ligase homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:187,603,600...187,672,006
Ensembl chr 1:192,466,408...192,535,071 		JBrowse link
G DTX4 deltex E3 ubiquitin ligase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:54,389,228...54,425,655
Ensembl chr11:57,839,228...57,874,337 		JBrowse link
G EFHD1 EF-hand domain family member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr2B:119,865,065...119,914,446 JBrowse link
G EN1 engrailed homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr2B:5,798,557...5,804,368 JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604 		JBrowse link
G ERBIN erbb2 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:47,929,305...48,081,381
Ensembl chr 5:49,589,418...49,676,689 		JBrowse link
G ESPL1 extra spindle pole bodies like 1, separase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr12:35,460,500...35,486,794
Ensembl chr12:36,241,533...36,266,101 		JBrowse link
G FANCA FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351 		JBrowse link
G FGF16 fibroblast growth factor 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:66,623,050...66,634,325
Ensembl chr  X:76,737,733...76,749,731 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605 		JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272 		JBrowse link
G FOXP2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:106,040,118...106,648,741
Ensembl chr 7:119,077,332...119,343,893 		JBrowse link
G GAS2 growth arrest specific 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:22,639,677...22,822,208
Ensembl chr11:22,583,367...22,729,243 		JBrowse link
G GAS6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 Ensembl chr13:113,968,843...114,009,562 JBrowse link
G GINS2 GINS complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:66,344,706...66,356,079
Ensembl chr16:85,681,716...85,691,626 		JBrowse link
G GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 4:148,032,167...148,102,757
Ensembl chr 4:159,850,107...159,913,338 		JBrowse link
G H1-4 H1.4 linker histone, cluster member ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:25,992,845...26,006,585
Ensembl chr 6:26,652,151...26,652,810
Ensembl chr 6:26,652,151...26,652,810 		JBrowse link
G HOMER3 homer scaffold protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:18,367,191...18,379,454
Ensembl chr19:19,374,442...19,385,392 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175 		JBrowse link
G IGFBP2 insulin like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr2B:103,893,724...103,925,318 JBrowse link
G IL17RD interleukin 17 receptor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:57,023,622...57,098,869
Ensembl chr 3:58,240,835...58,309,409 		JBrowse link
G INSRR insulin receptor related receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:132,183,963...132,195,267
Ensembl chr 1:136,005,458...136,024,374 		JBrowse link
G IRX4 iroquois homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 Ensembl chr 5:1,929,977...1,939,622 JBrowse link
G ISYNA1 inositol-3-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:17,913,400...17,916,789
Ensembl chr19:18,884,412...18,887,931 		JBrowse link
G ITGB4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:69,671,252...69,708,520
Ensembl chr17:75,222,376...75,259,401 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383 		JBrowse link
G JMJD1C jumonji domain containing 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:59,674,227...60,028,763
Ensembl chr10:61,999,571...62,295,332 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:11,508,245...11,705,023
Ensembl chr17:11,296,318...11,456,593 		JBrowse link
G KAT6A lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538 		JBrowse link
G KDM6A lysine demethylase 6A exacerbates ISO CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human)
DNA:mutations:multiple: (human) 		CTD
RGD		 PMID:23685749 PMID:31483290 RGD:150429732 RGD:150429736 NCBI chr  X:37,313,000...37,548,630
Ensembl chr  X:45,127,382...45,362,029 		JBrowse link
G KDM6B lysine demethylase 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:7,878,783...7,889,372
Ensembl chr17:7,866,973...7,874,937 		JBrowse link
G KMT2C lysine methyltransferase 2C disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:23685749 PMID:31483290 RGD:150429736 NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043 		JBrowse link
G KRT15 keratin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:15,794,336...15,802,977
Ensembl chr17:16,011,990...16,020,629 		JBrowse link
G KRT5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105 		JBrowse link
G LOC100981334 X antigen family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24648988 NCBI chr  X:44,700,391...44,705,731 JBrowse link
G LOC100988670 histone H2A type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:27,695,226...27,696,385
Ensembl chr 6:28,342,376...28,342,768 		JBrowse link
G LOC100990608 contactin-6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:1,021,854...1,339,952
Ensembl chr 3:1,133,190...1,442,622 		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 3:65,257,763...65,932,527
Ensembl chr 3:66,635,580...66,757,358 		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 7:69,943,704...71,395,176
Ensembl chr 7:83,758,512...84,760,872 		JBrowse link
G MAML3 mastermind like transcriptional coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:132,082,120...132,518,928
Ensembl chr 4:143,391,606...143,562,699 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933 		JBrowse link
G MARCKS myristoylated alanine rich protein kinase C substrate ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:111,647,847...111,653,821 JBrowse link
G MARK2 microtubule affinity regulating kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:59,195,852...59,268,391
Ensembl chr11:62,546,455...62,618,772 		JBrowse link
G MGA MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr15:20,560,842...20,710,269
Ensembl chr15:38,839,708...38,948,847 		JBrowse link
G MIER2 MIER family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 Ensembl chr19:259,565...288,920 JBrowse link
G MLC1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr22:30,287,928...30,316,094
Ensembl chr22:49,289,366...49,315,112 		JBrowse link
G MORF4L1 mortality factor 4 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr15:57,844,220...57,869,139
Ensembl chr15:76,772,007...76,829,259 		JBrowse link
G MYB MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 PMID:26829750 NCBI chr 6:132,952,728...132,990,560
Ensembl chr 6:137,048,812...137,086,194 		JBrowse link
G MYBL1 MYB proto-oncogene like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:63,105,379...63,156,421
Ensembl chr 8:64,771,278...64,811,960 		JBrowse link
G MYCBP MYC binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:38,135,375...38,145,640 JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr2A:15,925,130...15,931,605 JBrowse link
G NETO2 neuropilin and tolloid like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:27,343,333...27,405,173
Ensembl chr16:46,235,165...46,284,344 		JBrowse link
G NFIB nuclear factor I B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 9:13,923,516...14,376,264 JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351 		JBrowse link
G NTRK3 neurotrophic receptor tyrosine kinase 3 treatment ISO RGD PMID:23027130 RGD:150519921 NCBI chr15:66,566,219...66,953,279
Ensembl chr15:85,776,832...86,157,204 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr  X:41,128,785...41,133,284
Ensembl chr  X:48,988,948...48,990,028 		JBrowse link
G PDZK1 PDZ domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:122,034,097...122,091,823
Ensembl chr 1:113,579,273...113,615,390 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977 		JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G PYGB glycogen phosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr20:25,191,066...25,242,955
Ensembl chr20:25,593,589...25,648,066 		JBrowse link
G RBFOX2 RNA binding fox-1 homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr22:16,740,707...17,031,415
Ensembl chr22:34,586,044...34,870,257 		JBrowse link
G SERPINF1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999 		JBrowse link
G SLC24A3 solute carrier family 24 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr20:19,168,820...19,680,706
Ensembl chr20:19,137,938...19,646,475 		JBrowse link
G SLC3A2 solute carrier family 3 member 2 disease_progression ISO RGD PMID:23516127 RGD:151361211 NCBI chr11:58,212,395...58,241,686
Ensembl chr11:61,565,680...61,594,579 		JBrowse link
G SLC7A5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:23516127 RGD:151361211 NCBI chr16:68,512,407...68,552,763 JBrowse link
G SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:16,633,982...16,660,502
Ensembl chr17:16,860,400...16,884,946 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:45,576,100...45,637,314
Ensembl chr  X:53,697,154...53,745,636 		JBrowse link
G SON SON DNA and RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr21:19,910,024...19,944,511
Ensembl chr21:33,282,910...33,316,007 		JBrowse link
G SOX11 SRY-box transcription factor 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr2A:5,699,738...5,711,210 JBrowse link
G SOX4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:21,422,846...21,427,779 JBrowse link
G SRCAP Snf2 related CREBBP activator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr16:24,229,869...24,271,427
Ensembl chr16:31,065,964...31,106,312 		JBrowse link
G ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:121,169,213...121,228,287
Ensembl chr11:125,079,260...125,141,737 		JBrowse link
G TLK1 tousled like kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr2B:58,277,362...58,445,321
Ensembl chr2B:175,735,054...175,903,322 		JBrowse link
G TOP2A DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO ClinVar Annotator: match by term: Adenocystic carcinoma RGD
ClinVar		 PMID:1673792 PMID:1686725 PMID:7707106 PMID:7881428 PMID:8080050 More... RGD:8547828 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G UHRF1 ubiquitin like with PHD and ring finger domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr19:3,926,583...3,979,163
Ensembl chr19:4,872,753...4,925,330 		JBrowse link
G VCAN versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 5:31,699,278...31,810,169
Ensembl chr 5:32,019,709...32,130,351 		JBrowse link
G WNT5B Wnt family member 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr12:1,633,987...1,757,431
Ensembl chr12:1,691,097...1,708,351 		JBrowse link
G XRN2 5'-3' exoribonuclease 2 ISO DNA:hypermethylation:3' utr: (human) RGD PMID:21692051 RGD:11041796 NCBI chr20:21,260,871...21,347,430
Ensembl chr20:21,222,138...21,308,561 		JBrowse link
adenoid squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNF1A HNF1 homeobox A ISO RGD PMID:10489374 RGD:150540314 NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911 		JBrowse link
Cutaneous Telangiectasia and Cancer Syndrome, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase 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 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261 		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 TP53 disease_progression ISO RGD PMID:28849066 RGD:21081521 NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394 		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 susceptibility ISO DNA:polymorphism: :rs5746134(human) RGD PMID:21940907 RGD:8158078 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960 		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 chr2B:123,795,664...123,810,067
Ensembl chr2B:242,666,173...242,667,261 		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 chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO mRNA:decreased expression:larynx RGD PMID:25633166 RGD:151356763 NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 severity ISO RGD PMID:20164024 RGD:150573814 NCBI chr16:10,196,432...10,198,205 JBrowse link
G TRAF6 TNF receptor associated factor 6 disease_progression ISO RGD PMID:20164024 RGD:150573814 NCBI chr11:36,457,633...36,483,616
Ensembl chr11:36,335,609...36,356,334 		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 chr 8:98,904,557...99,064,121
Ensembl chr 8:101,067,435...101,224,913 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:SNPs, haplotype:: (rs3213403, rs1799778, rs3213282) (human)
DNA:missense mutation:cds: p.R280H (human) 		RGD PMID:24956286 PMID:27808358 RGD:151236313 RGD:151236314 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520 		JBrowse link
Laryngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 4:91,726,870...91,741,824
Ensembl chr 4:102,388,575...102,435,079 		JBrowse link
G ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 4:91,833,111...91,856,325
Ensembl chr 4:102,494,784...102,518,215 		JBrowse link
G EGFR epidermal growth factor receptor severity ISO protein:increased expression:tumor (human) RGD PMID:8883413 RGD:5131485 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:exon:c.354T>C (human) (rs11615) RGD PMID:24582975 RGD:13207310 NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO protein:increased expression:larynx RGD PMID:18335753 RGD:4140949 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:17786346 RGD:5130203 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G NAT1 N-acetyltransferase 1 susceptibility ISO DNA:polymorphism: : RGD PMID:12037388 RGD:5131864 NCBI chr 8:17,425,852...17,439,684
Ensembl chr 8:14,386,481...14,392,462 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 severity ISO protein:increased expression:larynx RGD PMID:20429377 RGD:5135434 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:16299231 RGD:1581365 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935 		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 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G SERPINA3 serpin family A member 3 ISO protein:decreased expression:serum RGD PMID:16273852 RGD:5147435 NCBI chr14:75,220,252...75,247,996
Ensembl chr14:94,551,934...94,579,515 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO RGD PMID:10618282 RGD:5147846 NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978 		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 chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868 		JBrowse link
G CAT catalase ISO protein:increased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G CDC73 cell division cycle 73 disease_progression ISO protein:decreased expression:larynx (human) RGD PMID:27334641 RGD:150539447 NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO RGD PMID:15646812 RGD:8662837 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 exacerbates ISO mRNA:increased expression:larynx (human) RGD PMID:33315534 RGD:153323310 NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076 		JBrowse link
G EGFR epidermal growth factor receptor disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:22549618 RGD:126790474 NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006 		JBrowse link
G FOXL2 forkhead box L2 exacerbates ISO mRNA:increased expression:larynx (human) RGD PMID:32517588 RGD:151667913 NCBI chr 3:135,968,040...135,980,063 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:24074040 PMID:27188866 PMID:28641905 RGD:152995454 RGD:152995455 RGD:152995493 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		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 chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909 		JBrowse link
G MLH1 mutL homolog 1 disease_progression ISO mRNA:decreased expression:larynx RGD PMID:23787767 RGD:126848783 NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:17786346 RGD:5130203 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MSH2 mutS homolog 2 disease_progression ISO mRNA:decreased expression:larynx RGD PMID:23787767 RGD:126848783 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461 		JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:16155914 PMID:19922706 RGD:5131602 RGD:5131856 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327 		JBrowse link
G PLCG1 phospholipase C gamma 1 ameliorates ISO mRNA:increased expression:larynx (human) RGD PMID:33466212 RGD:151665160 NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit severity ISO associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) RGD PMID:19513509 RGD:150429781 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868 		JBrowse link
G XDH xanthine dehydrogenase ISO protein:increased activity:larynx RGD PMID:8138195 RGD:152995273 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma ClinVar NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520 		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 chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231 		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 chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease susceptibility ISO DNA:missense mutation:CDS:p.D1104H (human) RGD PMID:19444904 RGD:155260337 NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO DNA:missense mutation:CDS:p.R1230P (human) RGD PMID:19444904 RGD:155260337 NCBI chr10:44,703,720...44,784,948 JBrowse link
G GPX1 glutathione peroxidase 1 susceptibility ISO DNA:missense mutation:CDS: (rs1050450) (human) RGD PMID:23516596 RGD:152998903 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO DNA:deletion: : RGD PMID:19252926 RGD:4140943 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G GSTM3 glutathione S-transferase mu 3 ISO RGD PMID:10067818 RGD:5135043 NCBI chr 1:112,380,890...112,384,988
Ensembl chr 1:127,957,008...127,960,578 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 ameliorates ISO mRNA:increased expression:larynx (human) RGD PMID:32791689 RGD:155256869 NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 onset ISO DNA:insertion:Cds: 3020_3021insC (human) RGD PMID:20223031 RGD:5131515 NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773 		JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO RGD PMID:20967863 RGD:126925200 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		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 chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599 		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 chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523 		JBrowse link
nasal cavity cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX2 SRY-box transcription factor 2 ISO DNA:amplification RGD PMID:23544055 RGD:8661654 NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662 		JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:19950227 RGD:8547762 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		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 ABCB1 ATP binding cassette subfamily B member 1 severity ISO Nasal Type;protein:increased expression:nasal cavity (human) RGD PMID:18756548 RGD:8657087 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238 		JBrowse link
G CD274 CD274 molecule disease_progression ISO associated with Epstein-Barr Virus Infections RGD PMID:27595782 RGD:41412182 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402 		JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15924153 NCBI chr2B:88,373,057...88,429,959
Ensembl chr2B:206,528,943...206,577,045 		JBrowse link
G FAS Fas cell surface death receptor ISO DNA:insertion, deletions:cds:multiple (human) RGD PMID:12466128 RGD:8662407 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G GPX3 glutathione peroxidase 3 treatment ISO associated with ethmoid sinus cancer and Neoplasm Metastasis RGD PMID:29496492 RGD:151708712 NCBI chr 5:146,447,939...146,456,476 JBrowse link
G JAK3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22705984 PMID:23689514 NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964 		JBrowse link
G LOC100989105 signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chr17:15,040,303...15,116,682
Ensembl chr17:15,306,418...15,336,463 		JBrowse link
G PRDM1 PR/SET domain 1 disease_progression ISO RGD PMID:24438193 RGD:150530467 NCBI chr 6:103,899,410...103,923,389
Ensembl chr 6:107,773,229...107,796,815 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased expression:nasal cavity (human) RGD PMID:17225522 RGD:153298933 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		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 chr11:64,737,006...64,750,353 JBrowse link
G CTPS1 CTP synthase 1 ISO mRNA:increased expression:nasopharynx (human) RGD PMID:19302751 RGD:5132859 NCBI chr 1:40,275,581...40,308,421
Ensembl chr 1:41,592,509...41,624,455 		JBrowse link
G EDNRA endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17032313 NCBI chr 4:139,815,336...139,879,600
Ensembl chr 4:151,476,356...151,536,497 		JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786012 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615 		JBrowse link
G MECOM MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr 3:166,099,530...166,677,739
Ensembl chr 3:174,154,814...174,731,252 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17607721 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G RASSF2 Ras association domain family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17013896 NCBI chr20:4,804,802...4,845,633
Ensembl chr20:4,603,414...4,641,529 		JBrowse link
G TNFRSF19 TNF receptor superfamily member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr13:4,880,340...4,986,160
Ensembl chr13:23,174,613...23,280,316 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:1631151 PMID:6736287 PMID:7707106 PMID:7885831 PMID:8023157 More... NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17384664 NCBI chr12:23,795,280...23,866,666
Ensembl chr12:24,299,351...24,370,807 		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 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G ATM ATM serine/threonine kinase treatment ISO protein:decreased expression:epithelium of nasopharynx (human)
associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human) 		RGD PMID:19142888 PMID:28820634 PMID:29230817 RGD:126779560 RGD:126790562 RGD:150340692 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G ATR ATR serine/threonine kinase treatment ISO RGD PMID:28820634 RGD:150340692 NCBI chr 3:139,482,606...139,612,274
Ensembl chr 3:147,075,185...147,196,261 		JBrowse link
G BCL2 BCL2 apoptosis regulator disease_progression ISO protein:increased expression:epithelium of nasopharynx (human) RGD PMID:12099337 RGD:11526103 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:nonsense mutation: :p.Q563* (human) RGD PMID:28857155 RGD:127229936 NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815 		JBrowse link
G BTK Bruton tyrosine kinase ISO mRNA:decreased expression:nasopharynx (human) RGD PMID:33096113 RGD:151347855 NCBI chr  X:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187 		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 chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416 		JBrowse link
G CCND2 cyclin D2 disease_progression ISO RGD PMID:20473882 RGD:151665334 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551 		JBrowse link
G CD163 CD163 molecule exacerbates ISO protein:increased expression:nasopharynx, macrophage (human) RGD PMID:28395580 RGD:127285800 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023 		JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit susceptibility ISO DNA:SNP: :rs3841324(human) RGD PMID:25329654 RGD:150527838 NCBI chr15:57,493,730...57,530,463
Ensembl chr15:76,455,165...76,486,376 		JBrowse link
G CLPTM1L CLPTM1 like susceptibility ISO DNA:SNP:intron:rs31489(human)
protein:increased expression:nasopharynx
DNA:SNP: :rs401681(human) 		RGD PMID:26545403 PMID:26621837 PMID:31270100 RGD:11556976 RGD:11564613 RGD:150537099 Ensembl chr 5:1,361,571...1,388,415 JBrowse link
G CR2 complement C3d receptor 2 susceptibility ISO DNA:SNP:5'UTR:24T>C (rs3813946)(human) RGD PMID:23612877 RGD:127338247 NCBI chr 1:183,052,798...183,088,385
Ensembl chr 1:187,330,483...187,366,069 		JBrowse link
G CSF1R colony stimulating factor 1 receptor treatment ISO RGD PMID:22267178 RGD:150524299 NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415 		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:15978137 PMID:26611644 RGD:152023644 RGD:152177484 NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO DNA:SNP: :rs2031920 (human) RGD PMID:26582733 RGD:11061495 Ensembl chr10:134,839,025...134,852,719 JBrowse link
G DAB2IP DAB2 interacting protein disease_progression ISO mRNA,protein:decreased expression:epithelium of nasopharynx (human) RGD PMID:28586035 RGD:151665144 NCBI chr 9:92,696,798...92,912,425
Ensembl chr 9:121,143,457...121,254,336 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 ISO mRNA:increased expression:epithelium of nasopharynx RGD PMID:18023033 RGD:150429715 NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766 		JBrowse link
G EFNB2 ephrin B2 disease_progression ISO protein:increased expression:nasopharynx (human) RGD PMID:23631129 RGD:153305949 NCBI chr13:87,629,831...87,675,652
Ensembl chr13:106,770,296...106,815,548 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:24825912 RGD:126781774 NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994 		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 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 severity ISO protein:increased expression:nasopharynx (human) RGD PMID:26535066 RGD:150520063 NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr13:9,584,850...9,779,542 JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit ISO mRNA:increased expression:nasopharynx (human) RGD PMID:30326930 RGD:153344557 NCBI chr2A:28,392,328...28,416,838
Ensembl chr2A:28,485,613...28,498,397 		JBrowse link
G FUBP1 far upstream element binding protein 1 exacerbates ISO protein:increased expression:nasopharynx (human) RGD PMID:26469968 RGD:11343512 NCBI chr 1:77,162,675...77,198,486 JBrowse link
G GPX1 glutathione peroxidase 1 susceptibility ISO DNA:missense mutation:CDS:p.P198L (human) RGD PMID:33616746 RGD:152995452 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO protein:decreased expression:nasopharynx (human) RGD PMID:26681223 RGD:150539449 NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 no_association ISO DNA:SNP: :1270533T>G (human) RGD PMID:19448408 PMID:24711137 RGD:14700933 RGD:14700955 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G JAK2 Janus kinase 2 severity ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:30123088 RGD:149735327 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626 		JBrowse link
G KDM3A lysine demethylase 3A severity ISO protein:decreased expression:nasopharyngeal epithelium (human) RGD PMID:21541331 RGD:9590228 NCBI chr2A:86,497,531...86,548,772 JBrowse link
G KDR kinase insert domain receptor disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		JBrowse link
G KMT2C lysine methyltransferase 2C ISO RGD PMID:31646828 RGD:151356762 NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ameliorates ISO associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human)
DNA:SNP:promoter: -1304T>G, -1304G>G (human) 		RGD PMID:21702039 PMID:27373035 RGD:150429759 RGD:150429763 NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 treatment ISO human cell line in a mouse model RGD PMID:32449282 RGD:151665502 NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114 		JBrowse link
G MST1R macrophage stimulating 1 receptor 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 3:49,818,538...49,835,713
Ensembl chr 3:51,054,795...51,072,401 		JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO RGD PMID:19068094 RGD:2325214
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 chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623 		JBrowse link
G PPIA peptidylprolyl isomerase A ISO mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human) RGD PMID:31063269 RGD:150429622 NCBI chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545 		JBrowse link
G RAC1 Rac family small GTPase 1 exacerbates ISO protein:increased expression:nasopharynx (human) RGD PMID:19506399 RGD:153350125 NCBI chr 7:7,039,379...7,068,866 JBrowse link
G RAD52 RAD52 homolog, DNA repair protein severity ISO protein:increased expression:nasopharynx (human) RGD PMID:25026830 RGD:151361208 NCBI chr12:986,372...1,066,708
Ensembl chr12:946,825...985,668 		JBrowse link
G SNRPD1 small nuclear ribonucleoprotein D1 polypeptide ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr18:14,851,041...14,869,042
Ensembl chr18:18,488,929...18,506,284 		JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 1:179,466,263...179,474,779
Ensembl chr 1:183,755,392...183,764,937 		JBrowse link
G SNRPF small nuclear ribonucleoprotein polypeptide F ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr12:93,452,446...93,459,691
Ensembl chr12:96,841,638...96,886,039 		JBrowse link
G SNRPG small nuclear ribonucleoprotein polypeptide G ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr2A:70,335,547...70,347,970
Ensembl chr2A:71,451,225...71,463,884 		JBrowse link
G SPEN spen family transcriptional repressor disease_progression ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:32641685 RGD:151347437 NCBI chr 1:14,987,415...15,079,477
Ensembl chr 1:16,004,473...16,072,585 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase disease_progression ISO RGD PMID:27078847 RGD:150521726 NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634 		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 chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G TERT telomerase reverse transcriptase ISO protein:increased expression:nasopharynx RGD PMID:26621837 RGD:11564613 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G TET2 tet methylcytosine dioxygenase 2 severity ISO human cells in mouse model RGD PMID:32774157 RGD:150429610 NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 treatment ISO RGD PMID:26149137 RGD:151347434 NCBI chr 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma ClinVar
OMIM		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1631151 More... NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression
severity 		ISO protein:increased expression:nasopharynx (human)
protein:increased expression:mucosa of nasopharynx (human) 		RGD PMID:16480593 PMID:23631129 PMID:30123088 RGD:126925191 RGD:149735327 RGD:153305949 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium RGD PMID:28607398 RGD:21081524 NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 treatment
susceptibility
sexual_dimorphism 		ISO DNA:SNP:3'utr: (rs25489) (human)
associated with Tobacco Use Disorder; DNA:missense mutation:cds: p.R399Q (human)
DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human)
DNA:missense mutation:cds: p.R194W (human) 		RGD PMID:16796765 PMID:17630853 PMID:24175791 PMID:27356695 PMID:29108254 RGD:150530619 RGD:150573694 RGD:150573697 RGD:150573698 RGD:150573708 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520 		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 chr10:119,129,440...119,200,232
Ensembl chr10:122,540,855...123,474,497 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16178123 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
Oropharyngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22972152 NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514 		JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:11072161 RGD:8547874 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
oropharynx cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:head, neck (human) RGD PMID:31452775 RGD:150520018 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083 		JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 disease_progression ISO RGD PMID:31187548 RGD:32716423 NCBI chr17:58,132,889...58,224,012
Ensembl chr17:63,226,949...63,317,825 		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 chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779 		JBrowse link
G ANXA2 annexin A2 disease_progression ISO RGD PMID:20970165 RGD:7421559 NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250 		JBrowse link
G TP53 tumor protein p53 treatment ISO DNA:mutations:cds: RGD PMID:22575263 PMID:23369851 RGD:8547763 RGD:8547764 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
Pharyngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 4:91,726,870...91,741,824
Ensembl chr 4:102,388,575...102,435,079 		JBrowse link
G ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18500343 NCBI chr 4:91,833,111...91,856,325
Ensembl chr 4:102,494,784...102,518,215 		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 Ensembl chr 5:1,361,571...1,388,415 JBrowse link
salivary gland adenoid cystic carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTUS1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:25885343 RGD:25330345 NCBI chr 8:16,863,307...17,020,684 JBrowse link
G XRCC4 X-ray repair cross complementing 4 susceptibility ISO DNA:SNP:intron: (rs13180356) (human) RGD PMID:26035306 RGD:151361290 NCBI chr 5:31,927,463...32,202,394
Ensembl chr 5:32,246,320...32,521,490 		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 4:132,082,120...132,518,928
Ensembl chr 4:143,391,606...143,562,699 		JBrowse link
G PAX3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr2B:109,441,938...109,541,449
Ensembl chr2B:228,022,453...228,121,874 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO RGD PMID:30120966 RGD:127285653 NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921 		JBrowse link
tonsil cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:head, neck (human) RGD PMID:31452775 RGD:150520018 NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083 		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 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
vestibular schwannomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1B1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,383,036...10,443,655
Ensembl chr22:28,189,831...28,285,007 		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 chr22:10,832,102...10,881,987
Ensembl chr22:28,637,041...28,686,003 		JBrowse link
G C23H22orf31 chromosome 23 C22orf31 homolog ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,114,034...10,129,561
Ensembl chr22:27,813,912...27,817,168 		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 chr22:10,763,495...10,775,460 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 chr22:9,841,876...9,891,088
Ensembl chr22:27,544,719...27,561,144 		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 chr22:9,757,038...9,811,171 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 chr22:10,261,598...10,315,182
Ensembl chr22:28,070,033...28,122,186 		JBrowse link
G EWSR1 EWS RNA 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 chr22:10,323,622...10,356,039
Ensembl chr22:28,131,109...28,163,134 		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 chr22:10,362,391...10,368,173
Ensembl chr22:28,169,387...28,175,278 		JBrowse link
G HSCB HscB mitochondrial iron-sulfur cluster cochaperone ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:9,811,294...9,826,245
Ensembl chr22:27,512,564...27,527,914 		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 chr22:10,128,326...10,202,548
Ensembl chr22:27,828,011...28,031,917 		JBrowse link
G LOC100968432 cytochrome b-c1 complex subunit 9 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,810,858...10,813,466
Ensembl chr22:28,615,583...28,618,426 		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 chr22:10,925,275...11,072,554
Ensembl chr22:28,818,273...28,872,982 		JBrowse link
G NEFH neurofilament heavy chain ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,525,738...10,536,788 JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2 OMIM
ClinVar		 PMID:1479598 PMID:2543905 PMID:3313277 PMID:4000972 PMID:7535084 More... NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013 		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 chr22:10,600,285...10,626,474
Ensembl chr22:28,406,638...28,432,897 		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 chr22:10,368,321...10,371,137 JBrowse link
G RFPL1 ret finger protein like 1 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...
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 chr22:10,315,438...10,323,803
Ensembl chr22:28,123,115...28,131,090 		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 chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921 		JBrowse link
G THOC5 THO complex subunit 5 ISO ClinVar Annotator: match by term: Neurofibromatosis, type 2 ClinVar PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More... NCBI chr22:10,553,665...10,599,948
Ensembl chr22:28,357,644...28,404,346 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:19587327 PMID:20406973 RGD:8547955 RGD:8547957 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		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 chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943 		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 chr22:10,774,446...10,810,609
Ensembl chr22:28,580,010...28,615,498 		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 chr22:9,891,021...10,109,147
Ensembl chr22:27,742,301...27,810,427 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15838
    sensory system disease 7061
      Otorhinolaryngologic Diseases 1738
        Otorhinolaryngologic Neoplasms 248
          Ear Neoplasms + 0
          Laryngeal Neoplasms + 45
          Nose Neoplasms + 20
          Pharyngeal Neoplasms + 170
          acoustic neuroma + 35
Path 2
Term Annotations click to browse term
  disease 15838
    disease of anatomical entity 15494
      nervous system disease 13588
        Neurologic Manifestations 10066
          sensory system disease 7061
            Otorhinolaryngologic Diseases 1738
              Otorhinolaryngologic Neoplasms 248
                Ear Neoplasms + 0
                Laryngeal Neoplasms + 45
                Nose Neoplasms + 20
                Pharyngeal Neoplasms + 170
                acoustic neuroma + 35
paths to the root