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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:Pharyngeal Diseases
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Accession:DOID:9004130 term browser browse the term
Definition:Pathological processes involving the PHARYNX.
Synonyms:exact_synonym: diseases of pharynx;   pharyngeal disease;   pharynx disease;   pharynx diseases
 primary_id: MESH:D010608
For additional species annotation, visit the Alliance of Genome Resources.


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achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin susceptibility ISO RGD PMID:16098009, PMID:16098009 RGD:1598514, RGD:1598514 NCBI chr 7:143,937,198...143,956,668
Ensembl chr 7:143,937,199...143,956,668
JBrowse link
G Lmna lamin A/C ISS OMIM:200400 MouseDO NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Nos1 nitric oxide synthase 1 ISS OMIM:200400 MouseDO NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:24997987, PMID:11837716 RGD:5147806 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human)
DNA:SNP::rs28688207 (human)
DNA:polymorphism, haplotype
CTD Direct Evidence: marker/mechanism
CTD PMID:24997987, PMID:11837716, PMID:30788115, PMID:30092016 RGD:5147806, RGD:14974238, RGD:14865011 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISS OMIM:200400 MouseDO NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 onset ISO DNA:SNP:intron:rs437876 (human) RGD PMID:19309439 RGD:5685626 NCBI chr 8:130,283,453...130,313,431 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 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr 7:137,680,564...137,798,329
Ensembl chr 7:137,680,530...137,795,655
JBrowse link
G Arid4b AT-rich interaction domain 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:53,831,353...53,955,897
Ensembl chr17:53,833,023...53,915,076
Ensembl chr17:53,833,023...53,915,076
JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr20:21,713,900...21,881,193
Ensembl chr20:21,564,975...21,880,715
JBrowse link
G Aspm assembly factor for spindle microtubules ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma
CTD
ClinVar
PMID:23685749 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:135,187,468...135,233,859
Ensembl chr  X:135,187,468...135,233,839
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Brd1 bromodomain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:129,676,119...129,724,303
Ensembl chr 7:129,676,120...129,724,303
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17520682 NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
JBrowse link
G Cmtr2 cap methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr19:41,426,536...41,433,367
Ensembl chr19:41,427,504...41,433,346
JBrowse link
G Cntn6 contactin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:136,512,201...136,904,355
Ensembl chr 4:136,512,201...136,904,355
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar Annotator: match by term: Carcinoma, Adenoid Cystic
CTD
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:29551561 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:4,297,038...4,454,941
Ensembl chr17:4,297,224...4,454,778
JBrowse link
G Dtl denticleless E3 ubiquitin protein ligase homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:110,219,276...110,257,345
Ensembl chr13:110,220,283...110,257,367
JBrowse link
G Dtx4 deltex E3 ubiquitin ligase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:228,729,842...228,759,783
Ensembl chr 1:228,732,985...228,755,866
JBrowse link
G Efhd1 EF-hand domain family, member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 9:94,362,249...94,408,884
Ensembl chr 9:94,362,299...94,408,885
JBrowse link
G En1 engrailed homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:36,532,758...36,537,888
Ensembl chr13:36,532,758...36,537,093
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Erbin erbb2 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:33,880,860...33,952,806
Ensembl chr 2:33,881,024...33,920,837
JBrowse link
G Espl1 extra spindle pole bodies like 1, separase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:143,896,890...143,923,868
Ensembl chr 7:143,897,014...143,923,868
JBrowse link
G Fanca FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carcinoma, Adenoid Cystic
CTD
ClinVar
PMID:23685749 PMID:26619011 NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
JBrowse link
G Fgf16 fibroblast growth factor 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:76,786,728...76,796,311
Ensembl chr  X:76,786,466...76,797,069
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar PMID:26619011 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:9,990,072...10,004,339
Ensembl chr17:9,990,078...10,004,321
JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:41,364,441...41,944,685
Ensembl chr 4:41,364,441...41,942,023
JBrowse link
G Gas2 growth arrest-specific 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:107,234,389...107,363,624
Ensembl chr 1:107,262,659...107,363,788
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:81,213,364...81,243,824
Ensembl chr16:81,213,364...81,243,757
JBrowse link
G Gins2 GINS complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:54,151,048...54,163,701
Ensembl chr19:54,151,048...54,163,608
JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:43,734,461...43,735,120
Ensembl chr17:43,734,461...43,735,120
JBrowse link
G Homer3 homer scaffold protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:20,880,447...20,890,968
Ensembl chr16:20,881,518...20,890,949
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar Annotator: match by term: Adenoid cystic carcinoma
CTD
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23685749 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Carcinoma, Adenoid Cystic
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
JBrowse link
G Il17rd interleukin 17 receptor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr16:2,670,471...2,737,271
Ensembl chr16:2,670,618...2,731,808
JBrowse link
G Insrr insulin receptor-related receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:187,161,817...187,181,400
Ensembl chr 2:187,162,017...187,181,395
JBrowse link
G Irx4 iroquois homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:32,634,774...32,645,151
Ensembl chr 1:32,634,796...32,643,771
JBrowse link
G Isyna1 inositol-3-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:20,589,497...20,592,333
Ensembl chr16:20,589,481...20,592,449
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:104,524,000...104,560,180
Ensembl chr10:104,523,996...104,561,078
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Jmjd1c jumonji domain containing 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr20:22,751,743...22,914,080
Ensembl chr20:22,751,743...22,882,672
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
JBrowse link
G Kdm6a lysine demethylase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:4,805,493...4,945,788
Ensembl chr  X:4,806,277...4,945,944
JBrowse link
G Kdm6b lysine demethylase 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:56,000,494...56,009,582
Ensembl chr10:56,001,799...56,008,885
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:82,506...109,986
NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22722830 PMID:23182985 PMID:23406027 PMID:25157968 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Krt15 keratin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:88,046,803...88,050,622
Ensembl chr10:88,046,803...88,050,622
JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:143,320,142...143,324,536
Ensembl chr 7:143,316,920...143,453,546
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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 4:125,684,816...126,300,013
Ensembl chr 4:125,687,307...125,958,112
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 4:10,995,241...12,472,423
Ensembl chr 4:10,995,234...11,610,518
JBrowse link
G Maml3 mastermind-like transcriptional coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:140,734,138...141,276,886 JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr20:42,966,140...42,971,838
Ensembl chr20:42,966,140...42,971,838
JBrowse link
G Mark2 microtubule affinity regulating kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:222,525,547...222,590,727
Ensembl chr 1:222,525,990...222,590,220
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
JBrowse link
G Mga MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:111,669,645...111,760,822
Ensembl chr 3:111,699,021...111,759,911
JBrowse link
G Mier2 MIER family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:13,039,759...13,055,632
Ensembl chr 7:13,039,781...13,055,632
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550
JBrowse link
G Morf4l1 mortality factor 4 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:97,473,454...97,494,974
Ensembl chr 8:97,474,092...97,494,834
JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 PMID:26829750 NCBI chr 1:16,658,178...16,690,135
Ensembl chr 1:16,659,442...16,687,817
JBrowse link
G Mybl1 MYB proto-oncogene like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:9,279,756...9,315,112
Ensembl chr 5:9,279,970...9,315,114
JBrowse link
G Mycbp Myc binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:141,560,192...141,567,399
Ensembl chr 5:141,560,192...141,567,399
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link
G Neto2 neuropilin and tolloid like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:22,450,579...22,486,530
Ensembl chr19:22,450,030...22,486,531
JBrowse link
G Nfib nuclear factor I/B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:100,436,343...100,647,962
Ensembl chr 5:100,439,082...100,647,727
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma
CTD
ClinVar
PMID:23685749 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr  X:15,324,263...15,327,705
Ensembl chr  X:15,425,078...15,428,518
Ensembl chr  X:15,425,078...15,428,518
Ensembl chr  X:15,425,078...15,428,518
Ensembl chr  X:15,425,078...15,428,518
JBrowse link
G Pdzk1 PDZ domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:198,965,685...198,999,323
Ensembl chr 2:198,965,685...198,999,323
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carcinoma, Adenoid Cystic
CTD
ClinVar
PMID:15930273 PMID:17376864 PMID:19366826 PMID:22120714 PMID:22658544 PMID:23685749 PMID:24033266 PMID:25157968 PMID:26619011 PMID:28492532 PMID:29446767 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:89,293,547...89,510,948
Ensembl chr11:89,293,696...89,510,871
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Pygb glycogen phosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:146,581,063...146,629,504
Ensembl chr 3:146,582,752...146,634,535
JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:118,157,093...118,396,733
Ensembl chr 7:118,156,946...118,396,728
JBrowse link
G Serpinf1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Carcinoma, Adenoid Cystic ClinVar PMID:26619011 NCBI chr 9:61,594,620...61,634,510
Ensembl chr 9:61,594,620...61,634,510
JBrowse link
G Slc24a3 solute carrier family 24 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:139,333,942...139,835,728
Ensembl chr 3:139,695,028...139,833,967
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenoid cystic carcinoma
CTD
ClinVar
PMID:23685749 NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:87,116,827...87,138,890
Ensembl chr10:87,116,827...87,137,965
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link
G Son SON DNA and RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:31,806,598...31,837,769
Ensembl chr11:31,806,618...31,837,763
JBrowse link
G Sox11 SRY-box transcription factor 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:46,629,967...46,631,988
Ensembl chr 6:46,629,974...46,631,983
JBrowse link
G Sox4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:37,615,022...37,619,728 JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:198,957,764...199,007,576
Ensembl chr 1:198,960,542...199,007,347
JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:36,264,741...36,314,811
Ensembl chr 8:36,264,750...36,314,811
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tlk1 tousled-like kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:57,012,738...57,376,336
Ensembl chr 3:57,013,025...57,119,001
Ensembl chr 3:57,013,025...57,119,001
JBrowse link
G Top2a DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:86,901,467...86,930,947
Ensembl chr10:86,901,007...86,932,154
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar Annotator: match by term: Carcinoma, Adenoid Cystic
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1673792 PMID:1686725 PMID:7707106 PMID:7881428 PMID:8080050 PMID:8364550 PMID:8869100 PMID:10713666 PMID:11479205 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12826609 PMID:16494995 PMID:16736287 PMID:16861262 PMID:17541742 PMID:17606709 PMID:17724467 PMID:18208484 PMID:19468865 PMID:20128691 PMID:20407015 PMID:20505364 PMID:20522432 PMID:21343334 PMID:21514416 PMID:21626334 PMID:21761402 PMID:23259501 PMID:23625637 PMID:23685749 PMID:24033266 PMID:24384472 PMID:24728327 PMID:25503501 PMID:25584008 PMID:25741868 PMID:26270727 PMID:26467025 PMID:26619011 PMID:27489289 PMID:27533082 PMID:28369373 PMID:28492532 PMID:28861920 PMID:29070607 PMID:29324801 PMID:29489754 PMID:29979965 PMID:30224644 PMID:30299350 PMID:30720243 PMID:31775759, PMID:16249115 RGD:8547828 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Uhrf1 ubiquitin-like with PHD and ring finger domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 9:10,738,211...10,758,403
Ensembl chr 9:10,738,222...10,757,954
JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:18,490,102...18,587,340
Ensembl chr 2:18,490,102...18,565,842
JBrowse link
G Wnt5b Wnt family member 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 4:151,500,962...151,516,894
Ensembl chr 4:151,500,957...151,516,894
JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO DNA:hypermethylation:3' utr: (human) RGD PMID:21692051 RGD:11041796 NCBI chr 3:141,224,858...141,298,272
Ensembl chr 3:141,225,290...141,298,265
JBrowse link
Alacrima, Achalasia, and Mental Retardation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar Annotator: match by OMIM:615510
OMIM
ClinVar
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 NCBI chr 9:82,632,267...82,639,811
Ensembl chr 9:82,632,230...82,639,821
JBrowse link
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 21
ClinVar Annotator: match by term: Myopathy, distal, 2
ClinVar Annotator: match by OMIM:606070
OMIM
ClinVar
PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 PMID:25154462 PMID:25185957 PMID:25677933 PMID:25741868 PMID:25771394 PMID:25952333 PMID:26467025 PMID:26493020 PMID:26528920 PMID:26780671 PMID:28166811 PMID:28492532 PMID:29525178 NCBI chr18:28,351,691...28,390,764
Ensembl chr18:28,361,283...28,390,717
JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpc centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr14:23,611,909...23,670,314
Ensembl chr14:23,611,735...23,670,475
JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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 OMIM:614564 OMIM
ClinVar
PMID:22341969 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
JBrowse link
Deglutition Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf10 multiple EGF-like domains 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22101682 NCBI chr18:52,215,652...52,366,212
Ensembl chr18:52,215,682...52,366,238
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Deglutition disorder ClinVar PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Deglutition disorder ClinVar PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 3:37,599,540...37,648,818
Ensembl chr 3:37,599,728...37,647,631
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Dysphagia ClinVar NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 4:147,455,506...147,490,869
Ensembl chr 4:147,455,533...147,490,733
JBrowse link
G Tsen34 tRNA splicing endonuclease subunit 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 1:64,023,924...64,031,756
Ensembl chr 1:64,024,240...64,030,175
Ensembl chr 1:64,024,240...64,030,175
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
JBrowse link
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf10 multiple EGF-like domains 10 ISO ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
ClinVar Annotator: match by OMIM:614399
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17236770 PMID:17576681 PMID:22101682 PMID:22371254 PMID:23453856 PMID:23954233 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26802438 PMID:28492532 PMID:28498977 NCBI chr18:52,215,652...52,366,212
Ensembl chr18:52,215,682...52,366,238
JBrowse link
gastroesophageal reflux disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552517 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:esophagus (human) RGD PMID:17900656 RGD:11081162 NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO RGD PMID:19672667 RGD:6482726 NCBI chr 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21451212 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Acid reflux ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20616304 NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:decreased expression:sputum, macrophage RGD PMID:21426732 RGD:7240539 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tp63 tumor protein p63 ISS OMIM:109350 MouseDO NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Acid reflux ClinVar PMID:25741868 NCBI chr19:54,843,864...55,083,935 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 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
Moyamoya Disease 6 with Achalasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia ClinVar
OMIM
PMID:24581742 PMID:25741868 PMID:26777256 NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
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 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ctps1 CTP synthase 1 ISO mRNA:increased expression:nasopharynx (human) RGD PMID:19302751 RGD:5132859 NCBI chr 5:139,475,934...139,505,065
Ensembl chr 5:139,475,934...139,505,065
JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17032313 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786012 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:17525745 PMID:18552176 PMID:22238366 PMID:23002168 PMID:23908597 PMID:25157968 PMID:26619011 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms
ClinVar Annotator: match by term: Nasopharyngeal neoplasm
ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms
ClinVar Annotator: match by term: Nasopharyngeal neoplasm
ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17607721 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms
ClinVar Annotator: match by term: Nasopharyngeal neoplasm
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:25157968 PMID:25599672 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28151489 PMID:28425981 PMID:30543347 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Rassf2 Ras association domain family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17013896 NCBI chr 3:124,574,088...124,610,267
Ensembl chr 3:124,575,621...124,610,267
JBrowse link
G Tnfrsf19 TNF receptor superfamily member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr15:41,249,820...41,316,203
Ensembl chr15:41,246,308...41,338,284
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Nasopharyngeal neoplasm
ClinVar Annotator: match by term: Nasopharyngeal Neoplasms
ClinVar PMID:1631151 PMID:7707106 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8164043 PMID:8825920 PMID:8869100 PMID:9546439 PMID:9632751 PMID:10589545 PMID:10914716 PMID:11370630 PMID:11920788 PMID:12007217 PMID:12124823 PMID:12826609 PMID:15607980 PMID:15607981 PMID:15825182 PMID:16288208 PMID:16401470 PMID:16494995 PMID:16736287 PMID:16861262 PMID:17541742 PMID:17606709 PMID:17724467 PMID:18208484 PMID:19468865 PMID:19834951 PMID:20128691 PMID:20505364 PMID:20516128 PMID:20522432 PMID:21343334 PMID:21514416 PMID:21626334 PMID:21761402 PMID:22006311 PMID:22233476 PMID:22999923 PMID:23259501 PMID:23263379 PMID:23265383 PMID:23334668 PMID:23792586 PMID:24033266 PMID:24384472 PMID:24573247 PMID:24728327 PMID:25587027 PMID:25741868 PMID:25927356 PMID:26024390 PMID:26270727 PMID:26467025 PMID:26619011 PMID:28135145 PMID:28369373 PMID:28492532 PMID:28724667 PMID:28861920 PMID:29489754 PMID:29979965 PMID:30224644 PMID:30299350 PMID:30720243 PMID:30840781 PMID:31775759, PMID:15118671 RGD:1331525 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17384664 NCBI chr 7:63,094,955...63,165,158
Ensembl chr 7:63,094,911...63,165,159
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 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Atm ATM serine/threonine kinase 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 RGD:126779560, RGD:126790562 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO protein:increased expression:epithelium of nasopharynx (human) RGD PMID:12099337 RGD:11526103 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO DNA:nonsense mutation: :p.Q563* (human) RGD PMID:28857155 RGD:127229936 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:SNP: :rs2031920 (human) RGD PMID:26582733 RGD:11061495 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:24825912 RGD:126781774 NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350
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 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Kdm3a lysine demethylase 3A severity ISO protein:decreased expression:nasopharyngeal epithelium (human) RGD PMID:21541331 RGD:9590228 NCBI chr 4:99,503,160...99,547,315
Ensembl chr 4:99,503,176...99,546,905
JBrowse link
G Kdr kinase insert domain receptor disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:nasopharynx RGD PMID:28000885 RGD:19165149 NCBI chr10:84,719,319...84,719,403
Ensembl chr10:84,719,319...84,719,403
JBrowse link
G Mst1r macrophage stimulating 1 receptor susceptibility ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3 ClinVar
OMIM
PMID:26951679 NCBI chr 8:116,686,601...116,700,132
Ensembl chr 8:116,686,601...116,700,132
JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming IEP RGD PMID:19068094 RGD:2325214 NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr18:1,866,066...1,876,613
Ensembl chr18:1,866,080...1,876,613
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr13:50,252,707...50,258,951
Ensembl chr 8:129,371,556...129,371,973
JBrowse link
G Snrpf small nuclear ribonucleoprotein polypeptide F ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 7:34,478,331...34,485,034
Ensembl chr 7:34,478,331...34,485,034
JBrowse link
G Snrpg small nuclear ribonucleoprotein polypeptide G ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 4:118,167,267...118,174,846
Ensembl chr 4:118,167,294...118,174,842
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma OMIM
ClinVar
PMID:1565143 PMID:1565144 PMID:1631151 PMID:1683921 PMID:7732013 PMID:7887414 PMID:8164043 PMID:8423216 PMID:8825920 PMID:9047394 PMID:9242456 PMID:9569050 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11101847 PMID:11139324 PMID:11479205 PMID:11782540 PMID:12007217 PMID:12619118 PMID:12672316 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15951970 PMID:15977174 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19556618 PMID:19881536 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20689556 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22698404 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22999923 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23792586 PMID:24033266 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25927356 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:27153395 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:29478780 PMID:29489754 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30816478 PMID:31775759 PMID:32000721, PMID:9929165 RGD:8547825 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
JBrowse link
Oropharyngeal Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22972152 NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:11072161 RGD:8547874 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
oropharynx cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ern1 endoplasmic reticulum to nucleus signaling 1 disease_progression ISO RGD PMID:31187548 RGD:32716423 NCBI chr10:94,588,555...94,682,072
Ensembl chr10:94,588,555...94,681,914
JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:28347920 RGD:24922223 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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 2:243,500,540...243,516,865
Ensembl chr 2:243,502,073...243,516,532
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 chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mtus1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:25885343 RGD:25330345 NCBI chr16:54,240,892...54,386,131
Ensembl chr16:54,291,251...54,386,129
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 chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
tonsillitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO RGD PMID:27738609 RGD:12743605 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
triple-A syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Achalasia alacrima syndrome
ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome
ClinVar Annotator: match by term: HYPOADRENALISM WITH ACHALASIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:231550
ClinVar Annotator: match by synonym: Achalasia-alacrima syndrome
OMIM
ClinVar
CTD
PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 PMID:12752575 PMID:15173230 PMID:15666842 PMID:16609705 PMID:17853339 PMID:18261130 PMID:18414213 PMID:18615337 PMID:18628786 PMID:22538409 PMID:23315990 PMID:25741868 PMID:26595337 PMID:27133709 PMID:27414811 PMID:28492532 NCBI chr 7:143,937,198...143,956,668
Ensembl chr 7:143,937,199...143,956,668
JBrowse link
G Myg1 MYG1 exonuclease ISO ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome ClinVar NCBI chr 7:143,929,662...143,936,865
Ensembl chr 7:143,929,662...143,936,864
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Stomatognathic Diseases 992
      Pharyngeal Diseases 173
        Branchial Cleft Anomalies 0
        Deglutition Disorders + 30
        Lemierre's syndrome 0
        Pharyngeal Neoplasms + 144
        Velopharyngeal Insufficiency 0
        amyotrophic lateral sclerosis type 21 1
        nasopharyngeal disease + 35
        pharyngitis + 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        sensory system disease 5580
          Otorhinolaryngologic Diseases 1321
            Pharyngeal Diseases 173
              Branchial Cleft Anomalies 0
              Deglutition Disorders + 30
              Lemierre's syndrome 0
              Pharyngeal Neoplasms + 144
              Velopharyngeal Insufficiency 0
              amyotrophic lateral sclerosis type 21 1
              nasopharyngeal disease + 35
              pharyngitis + 1
paths to the root