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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 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961
JBrowse link
G Lmna lamin A/C ISS OMIM:200400 MouseDO NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Nos1 nitric oxide synthase 1 ISS OMIM:200400 MouseDO NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:24997987 PMID:11837716 RGD:5147806 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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
RGD
PMID:24997987 PMID:11837716 PMID:30788115 PMID:30092016 RGD:5147806, RGD:14974238, RGD:14865011 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISS OMIM:200400 MouseDO NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 onset ISO DNA:SNP:intron:rs437876 (human) RGD PMID:19309439 RGD:5685626 NCBI chr 8:121,303,739...121,339,587
Ensembl chr 8:121,310,248...121,339,585
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 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
JBrowse link
G Arid4b AT-rich interaction domain 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:51,138,419...51,262,956
Ensembl chr17:51,138,535...51,262,906
JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
JBrowse link
G Aspm assembly factor for spindle microtubules ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atr ATR serine/threonine kinase treatment ISO RGD PMID:32001675 RGD:150340693 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
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 chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:127,516,504...127,584,529
Ensembl chr  X:127,537,538...127,584,087
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Brd1 bromodomain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:119,774,187...119,822,031
Ensembl chr 7:119,774,188...119,822,031
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17520682 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Cmtr2 cap methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr19:38,190,718...38,197,549
Ensembl chr19:38,190,642...38,197,804
JBrowse link
G Cntn6 contactin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:137,354,886...137,751,712
Ensembl chr 4:137,355,367...137,751,119
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma
CTD
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
JBrowse link
G Dtl denticleless E3 ubiquitin protein ligase homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:103,115,810...103,155,029
Ensembl chr13:103,117,186...103,154,890
JBrowse link
G Dtx4 deltex E3 ubiquitin ligase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:209,457,719...209,545,163
Ensembl chr 1:209,460,735...209,492,818
JBrowse link
G Efhd1 EF-hand domain family, member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917
JBrowse link
G En1 engrailed homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:31,750,892...31,756,477
Ensembl chr13:31,751,545...31,755,943
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Erbin erbb2 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:34,926,962...35,028,440
Ensembl chr 2:34,928,863...35,027,852
JBrowse link
G Espl1 extra spindle pole bodies like 1, separase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:133,424,027...133,450,984
Ensembl chr 7:133,424,130...133,450,984
JBrowse link
G Fanca FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma
CTD
ClinVar
PMID:23685749 PMID:26619011 NCBI chr 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941
JBrowse link
G Fgf16 fibroblast growth factor 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:70,816,658...70,827,270
Ensembl chr  X:70,817,433...70,878,717
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar PMID:26619011 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683
JBrowse link
G Gas2 growth arrest-specific 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:101,452,361...101,582,619
Ensembl chr 1:101,482,591...101,582,619
JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
JBrowse link
G Gins2 GINS complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:48,626,770...48,639,523
Ensembl chr19:48,626,770...48,639,339
JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:41,486,634...41,487,293
Ensembl chr17:41,486,560...41,487,403
JBrowse link
G Homer3 homer scaffold protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,132,162...19,142,680
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma
CTD
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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 chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
JBrowse link
G Il17rd interleukin 17 receptor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr16:2,228,467...2,295,126
Ensembl chr16:2,228,287...2,292,556
JBrowse link
G Insrr insulin receptor-related receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
JBrowse link
G Irx4 iroquois homeobox 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549
JBrowse link
G Isyna1 inositol-3-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979
JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Jmjd1c jumonji domain containing 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
JBrowse link
G Kdm6a lysine demethylase 6A exacerbates ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple: (human)
DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human)
CTD
RGD
PMID:23685749 PMID:31483290 PMID:23685749 RGD:150429736, RGD:150429732 NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Kdm6b lysine demethylase 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Krt15 keratin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:85,066,797...85,070,614
Ensembl chr10:85,066,802...85,171,799
JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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 4:126,205,667...126,811,354
Ensembl chr 4:126,206,816...126,811,691
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 4:14,388,322...15,870,036
Ensembl chr 4:14,386,399...15,870,240
JBrowse link
G Maml3 mastermind-like transcriptional coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:135,722,585...136,136,975
Ensembl chr 2:135,721,021...136,137,814
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr20:40,685,315...40,691,012
Ensembl chr20:40,685,315...40,691,012
JBrowse link
G Mark2 microtubule affinity regulating kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:204,461,029...204,526,247
Ensembl chr 1:204,461,030...204,525,652
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
JBrowse link
G Mga MAX dimerization protein MGA ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
JBrowse link
G Mier2 MIER family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:10,153,501...10,169,381
Ensembl chr 7:10,153,649...10,169,378
JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
JBrowse link
G Morf4l1 mortality factor 4 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:90,642,988...90,664,518
Ensembl chr 8:90,642,988...90,664,519
JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 PMID:26829750 NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
JBrowse link
G Mybl1 MYB proto-oncogene like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:9,582,905...9,618,179
Ensembl chr 5:9,582,934...9,618,183
JBrowse link
G Mycbp Myc binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:136,135,955...136,143,163
Ensembl chr 5:136,135,931...136,145,616
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
JBrowse link
G Neto2 neuropilin and tolloid like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:21,344,299...21,418,182
Ensembl chr19:21,344,289...21,417,023
JBrowse link
G Nfib nuclear factor I/B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:96,759,208...96,973,092
Ensembl chr 5:96,764,653...96,975,479
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 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 treatment ISO RGD PMID:23027130 RGD:150519921 NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566
JBrowse link
G Pdzk1 PDZ domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:184,376,161...184,407,514
Ensembl chr 2:184,376,161...184,407,514
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adenocystic carcinoma
CTD
ClinVar
PMID:15930273 PMID:17376864 PMID:19366826 PMID:22120714 PMID:22658544 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Pygb glycogen phosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:139,611,724...139,658,521
Ensembl chr 3:139,611,749...139,663,553
JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691
JBrowse link
G Serpinf1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:110,511,808...110,597,489
Ensembl chr 8:110,511,772...110,597,489
JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
JBrowse link
G Slc24a3 solute carrier family 24 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:132,552,119...133,051,192
Ensembl chr 3:132,551,595...133,051,192
JBrowse link
G Slc3a2 solute carrier family 3 member 2 disease_progression ISO RGD PMID:23516127 RGD:151361211 NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931
JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:23516127 RGD:151361211 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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 chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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 chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056
JBrowse link
G Son SON DNA and RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
JBrowse link
G Sox11 SRY-box transcription factor 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
JBrowse link
G Sox4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:33,415,666...33,465,365
Ensembl chr 8:33,415,671...33,524,389
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Adenoid cystic carcinoma ClinVar NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tlk1 tousled-like kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:55,520,559...55,627,580
Ensembl chr 3:55,503,358...55,691,968
JBrowse link
G Top2a DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:83,946,186...83,975,694
Ensembl chr10:83,945,735...83,976,874
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO ClinVar Annotator: match by term: Adenocystic carcinoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1673792 PMID:1686725 PMID:7707106 PMID:7881428 PMID:8080050 More... RGD:8547828 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Uhrf1 ubiquitin-like with PHD and ring finger domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 9:1,133,117...1,154,639
Ensembl chr 9:1,134,909...1,154,631
JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637
JBrowse link
G Wnt5b Wnt family member 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 4:152,609,566...152,733,790
Ensembl chr 4:152,609,569...152,733,407
JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO DNA:hypermethylation:3' utr: (human) RGD PMID:21692051 RGD:11041796 NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306
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 chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
JBrowse link
alacrima, achalasia, and impaired intellectual development syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aamp angio-associated, migratory cell protein ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:75,863,389...75,868,547
JBrowse link
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,688,223...76,695,141
Ensembl chr 9:76,688,194...76,696,469
JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471
JBrowse link
G Asic4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900
JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,677,403...76,688,035
Ensembl chr 9:76,677,404...76,687,986
JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,945,933...75,953,618
Ensembl chr 9:75,945,961...75,953,607
JBrowse link
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,416,251...76,417,719
Ensembl chr 9:76,416,062...76,418,344
JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,459,211...76,494,199
Ensembl chr 9:76,459,211...76,494,128
JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878
JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460
JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,973,694...75,979,298
Ensembl chr 9:75,973,962...75,979,297
JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,768,124...75,771,122
Ensembl chr 9:75,766,770...75,771,084
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,439,164...76,443,603
Ensembl chr 9:76,439,172...76,443,065
JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome OMIM
ClinVar
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 PMID:29593478 NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,976,596...75,976,680
Ensembl chr 9:75,976,596...75,976,680
JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,967,802...76,993,565
Ensembl chr 9:76,974,253...76,993,560
JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,115,523...76,158,602
Ensembl chr 9:76,117,168...76,142,453
JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,868,620...75,937,126
Ensembl chr 9:75,867,468...75,937,124
JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,295,715...76,304,959
Ensembl chr 9:76,295,715...76,304,959
JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,170,037...76,176,924
Ensembl chr 9:76,170,037...76,176,849
JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
JBrowse link
G Slc23a3 solute carrier family 23, member 3 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366
JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,871,835...75,889,366
Ensembl chr 9:75,871,835...75,889,069
JBrowse link
G Tmem198 transmembrane protein 198 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011
JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,221,659...76,258,219
Ensembl chr 9:76,221,796...76,251,301
JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,018,863...76,118,732
Ensembl chr 9:76,018,991...76,084,044
JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:75,991,141...76,018,860
Ensembl chr 9:75,991,141...76,018,858
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523
JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome ClinVar PMID:28492532 NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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 type 21 OMIM
ClinVar
PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166
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 chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476
JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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 OMIM
ClinVar
PMID:22341969 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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 chr18:50,605,231...50,755,441
Ensembl chr18:50,605,656...50,754,456
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Dysphagia ClinVar PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Dysphagia ClinVar PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Dysphagia ClinVar NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
JBrowse link
G Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog ISO ClinVar Annotator: match by term: Dysphagia ClinVar NCBI chr 4:148,070,388...148,103,728
Ensembl chr 4:148,018,463...148,103,694
JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 4:148,602,805...148,638,219
Ensembl chr 4:148,602,863...148,638,215
JBrowse link
G Tsen34 tRNA splicing endonuclease subunit 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 1:65,517,324...65,525,194
Ensembl chr 1:65,517,330...65,524,412
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr14:41,485,033...41,495,590
Ensembl chr14:41,485,031...41,495,590
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355
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 | ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17236770 PMID:17576681 PMID:22101682 More... NCBI chr18:50,605,231...50,755,441
Ensembl chr18:50,605,656...50,754,456
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 chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 PMID:28649782 NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:esophagus (human) RGD PMID:17900656 RGD:11081162 NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:24035193 NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO RGD PMID:19672667 RGD:6482726 NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21451212 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20616304 NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:decreased expression:sputum, macrophage RGD PMID:21426732 RGD:7240539 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tp63 tumor protein p63 ISS OMIM:109350 MouseDO NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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 OMIM
ClinVar
PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532 NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ctps1 CTP synthase 1 ISO mRNA:increased expression:nasopharynx (human) RGD PMID:19302751 RGD:5132859 NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180
JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17032313 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786012 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms | ClinVar Annotator: match by term: Nasopharyngeal neoplasm ClinVar PMID:17525745 PMID:18552176 PMID:22238366 PMID:23002168 PMID:23908597 More... NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17607721 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Rassf2 Ras association domain family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17013896 NCBI chr 3:119,244,288...119,280,462
Ensembl chr 3:119,245,821...119,280,431
JBrowse link
G Tnfrsf19 TNF receptor superfamily member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr15:35,092,206...35,158,472
Ensembl chr15:35,092,206...35,180,795
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:1631151 PMID:7707106 PMID:8023157 PMID:8062826 PMID:8080050 More... RGD:1331525 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17384664 NCBI chr 7:56,548,058...56,618,364
Ensembl chr 7:56,548,053...56,618,360
JBrowse link
nasopharyngitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO mRNA:decreased expression:epithelium of nasopharynx RGD PMID:23001130 RGD:150523839 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
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:29230817 PMID:28820634 PMID:19142888 RGD:126779560, RGD:150340692, RGD:126790562 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atr ATR serine/threonine kinase treatment ISO RGD PMID:28820634 RGD:150340692 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO protein:increased expression:epithelium of nasopharynx (human) RGD PMID:12099337 RGD:11526103 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Brca1 BRCA1, DNA repair associated ISO DNA:nonsense mutation: :p.Q563* (human) RGD PMID:28857155 RGD:127229936 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Btk Bruton tyrosine kinase ISO mRNA:decreased expression:nasopharynx (human) RGD PMID:33096113 RGD:151347855 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
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 chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
JBrowse link
G Ccnd2 cyclin D2 disease_progression ISO RGD PMID:20473882 RGD:151665334 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
JBrowse link
G Cd163 CD163 molecule exacerbates ISO protein:increased expression:nasopharynx, macrophage (human) RGD PMID:28395580 RGD:127285800 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit susceptibility ISO DNA:SNP: :rs3841324(human) RGD PMID:25329654 RGD:150527838 NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
JBrowse link
G Clptm1l CLPTM1-like susceptibility ISO DNA:SNP: :rs401681(human)
DNA:SNP:intron:rs31489(human)
DNA:SNP:intron:rs31489(human)
protein:increased expression:lung
RGD PMID:26621837 PMID:31270100 PMID:26545403 PMID:26621837 RGD:11564613, RGD:150537099, RGD:11556976, RGD:11564613 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
JBrowse link
G Cr2 complement C3d receptor 2 susceptibility ISO DNA:SNP:5'UTR:24T>C (rs3813946)(human) RGD PMID:23612877 RGD:127338247 NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235
JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment ISO RGD PMID:22267178 RGD:150524299 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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:26611644 PMID:15978137 RGD:152023644, RGD:152177484 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:SNP: :rs2031920 (human) RGD PMID:26582733 RGD:11061495 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280
JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO mRNA:increased expression:epithelium of nasopharynx RGD PMID:18023033 RGD:150429715 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:24825912 RGD:126781774 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 severity ISO protein:increased expression:nasopharynx (human) RGD PMID:26535066 RGD:150520063 NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Fubp1 far upstream element binding protein 1 exacerbates ISO protein:increased expression:nasopharynx (human) RGD PMID:26469968 RGD:11343512 NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO protein:decreased expression:nasopharynx (human) RGD PMID:26681223 RGD:150539449 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Jak2 Janus kinase 2 severity ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:30123088 RGD:149735327 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Kdm3a lysine demethylase 3A severity ISO protein:decreased expression:nasopharyngeal epithelium (human) RGD PMID:21541331 RGD:9590228 NCBI chr 4:103,630,907...103,675,073
Ensembl chr 4:103,630,908...103,675,073
JBrowse link
G Kdr kinase insert domain receptor disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO RGD PMID:31646828 RGD:151356762 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 ameliorates ISO DNA:SNP:promoter: -1304T>G, -1304G>G (human)
associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human)
RGD PMID:27373035 PMID:21702039 RGD:150429759, RGD:150429763 NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
JBrowse link
G Mapk14 mitogen activated protein kinase 14 treatment ISO human cell line in a mouse model RGD PMID:32449282 RGD:151665502 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
JBrowse link
G Mir132 microRNA 132 treatment ISO RGD PMID:29442000 RGD:151665745 NCBI chr10:60,023,696...60,023,796
Ensembl chr10:60,023,696...60,023,796
JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:nasopharynx RGD PMID:28000885 RGD:19165149 NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
JBrowse link
G Mir222 microRNA 222 ISO RNA:increased expression:nasopharynx RGD PMID:29115464 RGD:151708744 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006
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 8:108,596,100...108,611,389
Ensembl chr 8:108,597,299...108,612,455
JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming IEP RGD PMID:19068094 RGD:2325214 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
JBrowse link
G Ppia peptidylprolyl isomerase A ISO mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human) RGD PMID:31063269 RGD:150429622 NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
JBrowse link
G Rad52 RAD52 homolog, DNA repair protein severity ISO protein:increased expression:nasopharynx (human) RGD PMID:25026830 RGD:151361208 NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr18:1,696,838...1,707,400
Ensembl chr18:1,696,852...1,708,256
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
JBrowse link
G Snrpf small nuclear ribonucleoprotein polypeptide F ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 7:28,130,427...28,137,129
Ensembl chr 7:28,130,427...28,137,129
JBrowse link
G Snrpg small nuclear ribonucleoprotein polypeptide G ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 4:118,812,278...118,819,827
Ensembl chr 4:118,812,252...118,819,826
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 5:153,775,287...153,848,677
Ensembl chr 5:153,776,234...153,848,811
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase disease_progression ISO RGD PMID:27078847 RGD:150521726 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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 chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tert telomerase reverse transcriptase ISO protein:increased expression:lung RGD PMID:26621837 RGD:11564613 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 severity ISO human cells in mouse model RGD PMID:32774157 RGD:150429610 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
JBrowse link
G Tnfaip3 TNF alpha induced protein 3 treatment ISO RGD PMID:26149137 RGD:151347434 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma OMIM
ClinVar
RGD
PMID:1565143 PMID:1565144 PMID:1631151 PMID:1683921 PMID:7732013 More... RGD:8547825 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression
severity
ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:16480593 PMID:30123088 RGD:126925191, RGD:149735327 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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 chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 treatment
susceptibility
sexual_dimorphism
ISO DNA:SNP:3'utr: (rs25489) (human)
DNA:missense mutation:cds: p.R194W (human)
DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human)
associated with Tobacco Use Disorder; DNA:missense mutation:cds: p.R399Q (human)
RGD PMID:29108254 PMID:17630853 PMID:24175791 PMID:27356695 PMID:16796765 RGD:150530619, RGD:150573708, RGD:150573698, RGD:150573697, RGD:150573694 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:11072161 RGD:8547874 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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 chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:28347920 RGD:24922223 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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 2:226,748,724...226,763,183
Ensembl chr 2:226,741,788...226,763,182
JBrowse link
pharynx squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clptm1l CLPTM1-like sexual_dimorphism ISO in males;DNA:SNP: :rs401681(human) RGD PMID:31429604 RGD:150530637 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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 chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mtus1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:25885343 RGD:25330345 NCBI chr16:51,202,497...51,347,791
Ensembl chr16:51,253,562...51,347,793
JBrowse link
G Xrcc4 X-ray repair cross complementing 4 susceptibility ISO DNA:SNP:intron: (rs13180356) (human) RGD PMID:26035306 RGD:151361290 NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808
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 chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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 chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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: ACTH-resistant adrenal insufficiency, achalasia and alacrima | ClinVar Annotator: match by term: Achalasia alacrima syndrome | ClinVar Annotator: match by term: Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome | ClinVar Annotator: match by term: Achalasia-addisonianism-alacrimia syndrome | ClinVar Annotator: match by term: Alacrima-achalasia-adrenal insufficiency neurologic disorder | ClinVar Annotator: match by term: Allgrove syndrome | ClinVar Annotator: match by term: Hypoadrenalism with achalasia | ClinVar Annotator: match by term: Triple-A syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 More... NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961
JBrowse link
G Myg1 MYG1 exonuclease ISO ClinVar Annotator: match by term: Achalasia alacrima syndrome ClinVar NCBI chr 7:133,456,778...133,463,985
Ensembl chr 7:133,456,750...133,466,969
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Stomatognathic Diseases 1148
      Pharyngeal Diseases 258
        Branchial Cleft Anomalies 0
        Deglutition Disorders + 83
        Lemierre's syndrome 0
        Pharyngeal Neoplasms + 175
        Velopharyngeal Insufficiency 0
        amyotrophic lateral sclerosis type 21 1
        nasopharyngeal disease + 66
        pharyngitis + 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          Otorhinolaryngologic Diseases 1557
            Pharyngeal Diseases 258
              Branchial Cleft Anomalies 0
              Deglutition Disorders + 83
              Lemierre's syndrome 0
              Pharyngeal Neoplasms + 175
              Velopharyngeal Insufficiency 0
              amyotrophic lateral sclerosis type 21 1
              nasopharyngeal disease + 66
              pharyngitis + 2
paths to the root