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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;   disorder of pharynx;   pharyngeal disease;   pharynx disease;   pharynx diseases
 primary_id: MESH:D010608
 xref: MONDO:0020592


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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 7:135,342,901...135,362,545 		JBrowse link
G Lmna lamin A/C ISS OMIM:200400 MouseDO NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072 		JBrowse link
G Nos1 nitric oxide synthase 1 ISS OMIM:200400 MouseDO NCBI chr12:44,276,011...44,456,371
Ensembl chr12:44,287,614...44,371,837 		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 chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		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 chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISS OMIM:200400 MouseDO NCBI chr15:89,106,809...89,111,926
Ensembl chr15:89,103,731...89,115,074 		JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 onset ISO DNA:SNP:intron:rs437876 (human) RGD PMID:19309439 RGD:5685626 NCBI chr 8:130,181,219...130,217,098
Ensembl chr 8:130,187,731...130,217,096 		JBrowse link
Achalasia-Progeroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bud13 BUD13 homolog ISO ClinVar Annotator: match by term: Achalasia-progeroid syndrome OMIM
ClinVar		 PMID:35670808 NCBI chr 8:46,575,124...46,590,964
Ensembl chr 8:55,471,810...55,487,649 		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 4:85,812,784...85,824,964
Ensembl chr 4:85,812,784...85,830,504 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G Arid4b AT-rich interaction domain 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:51,138,419...51,262,894
Ensembl chr17:55,833,908...55,958,382 		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 chr20:20,306,712...20,489,686 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:53,625,584...53,674,489
Ensembl chr13:53,625,584...53,674,489 		JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629 		JBrowse link
G Atr ATR serine/threonine kinase treatment ISO RGD PMID:32001675 RGD:150340693 NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:105,306,305...105,403,718 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Adenocystic carcinoma ClinVar PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 PMID:28492532 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr14:102,230,147...102,325,289
Ensembl chr14:102,231,113...102,325,623 		JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:13,282,431...13,402,254
Ensembl chr  X:13,360,376...13,402,254 		JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:132,394,703...132,462,414
Ensembl chr  X:132,397,069...132,461,976 		JBrowse link
G Brca1 BRCA1, DNA repair associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763 		JBrowse link
G Brd1 bromodomain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:121,653,859...121,701,700
Ensembl chr 7:121,653,859...121,701,700 		JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:209,518,288...209,527,810 		JBrowse link
G Cdh1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17520682 NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565 		JBrowse link
G Cmtr2 cap methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr19:55,100,135...55,106,966
Ensembl chr19:55,099,843...55,124,234 		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 4:138,911,380...139,311,816 		JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,935,625...4,096,581 		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 chr13:105,646,908...105,686,174 		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 1:218,832,284...218,917,130 		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 9:95,386,169...95,432,798 		JBrowse link
G En1 engrailed homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr13:34,303,684...34,309,269
Ensembl chr13:34,303,702...34,309,269 		JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		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 2:36,660,399...36,762,153 		JBrowse link
G Espl1 extra spindle pole bodies like 1, separase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:135,302,460...135,329,570
Ensembl chr 7:135,302,716...135,329,570 		JBrowse link
G Fanca FA complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:68,210,562...68,271,080
Ensembl chr19:68,212,643...68,271,019 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:53,909,759...54,029,175
Ensembl chr16:53,909,556...54,028,609 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:172,447,738...172,609,591
Ensembl chr 2:172,447,738...172,609,591 		JBrowse link
G Fgf16 fibroblast growth factor 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:74,882,863...74,893,598
Ensembl chr  X:74,882,995...74,944,246 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,466,692...9,481,389 		JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr20:47,251,968...47,348,254
Ensembl chr20:47,255,878...47,346,845 		JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:44,099,959...44,677,696 		JBrowse link
G Gas2 growth arrest-specific 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:110,587,952...110,721,572
Ensembl chr 1:110,717,312...110,718,541 		JBrowse link
G Gas6 growth arrest specific 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:82,747,676...82,778,090
Ensembl chr16:82,747,345...82,778,088 		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 chr19:65,535,492...65,548,052 		JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:169,716,684...169,780,360
Ensembl chr 2:169,716,709...169,779,737 		JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:41,914,425...41,915,206
Ensembl chr17:41,914,431...41,916,129 		JBrowse link
G Homer3 homer scaffold protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr16:19,166,141...19,176,701
Ensembl chr16:19,165,482...19,176,640 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590 		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 9:74,027,887...74,057,442
Ensembl chr 9:74,027,892...74,049,555 		JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 9:81,864,811...81,892,179
Ensembl chr 9:81,864,783...81,892,171 		JBrowse link
G Il17rd interleukin 17 receptor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,235,169...2,301,850 		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 2:175,553,293...175,572,676 		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 1:31,859,101...31,868,089 		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 chr16:18,873,121...18,875,955 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,705,587...101,741,932 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872 		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 chr20:21,330,990...21,461,916 		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 chr10:89,737,637...89,868,620 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr16:75,787,411...75,868,584
Ensembl chr16:75,787,411...75,866,099 		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:6,920,374...7,060,027
Ensembl chr  X:6,920,343...7,059,960 		JBrowse link
G Kdm6b lysine demethylase 6B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:54,619,520...54,641,014
Ensembl chr10:54,619,544...54,629,610 		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 4:10,353,698...10,755,965
Ensembl chr 4:10,353,735...10,568,620 		JBrowse link
G Krt15 keratin 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:85,066,797...85,070,614
Ensembl chr10:85,567,202...85,571,142 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:134,724,840...134,730,569
Ensembl chr 7:134,724,840...134,730,569 		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 4:127,762,590...128,368,228
Ensembl chr 4:127,762,590...128,367,833 		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 4:15,278,518...16,762,427
Ensembl chr 4:15,278,518...16,762,199 		JBrowse link
G Maml3 mastermind-like transcriptional coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:137,871,267...138,288,615
Ensembl chr 2:137,871,267...138,287,960 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 7:9,241,449...9,264,216
Ensembl chr 7:9,241,310...9,260,940 		JBrowse link
G Marcks myristoylated alanine rich protein kinase C substrate ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr20:42,240,185...42,245,882
Ensembl chr20:42,240,185...42,245,882 		JBrowse link
G Mark2 microtubule affinity regulating kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 1:213,890,213...213,955,417
Ensembl chr 1:213,890,213...213,955,149 		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 3:127,328,264...127,394,826 		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 7:10,804,268...10,819,979 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:121,926,356...121,949,484
Ensembl chr 7:121,926,356...121,946,698 		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 8:99,500,898...99,544,331 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 PMID:26829750 NCBI chr 1:17,759,309...17,793,306
Ensembl chr 1:17,759,309...17,792,547 		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 5:14,365,768...14,399,588 		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 5:141,420,707...141,430,681 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:41,446,684...41,452,508 		JBrowse link
G Neto2 neuropilin and tolloid like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr19:37,517,518...37,588,961
Ensembl chr19:37,517,587...37,591,413 		JBrowse link
G Nfib nuclear factor I/B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 5:101,805,168...102,020,618
Ensembl chr 5:101,805,168...102,019,945 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,317,085...9,452,250 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 treatment ISO RGD PMID:23027130 RGD:150519921 NCBI chr 1:141,526,192...141,913,575
Ensembl chr 1:141,542,569...141,913,004 		JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr  X:17,251,963...17,255,405
Ensembl chr  X:17,251,965...17,257,360 		JBrowse link
G Pdzk1 PDZ domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:187,064,995...187,096,348
Ensembl chr 2:187,065,013...187,096,806 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr11:98,544,952...98,762,499
Ensembl chr11:98,544,954...98,762,108 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
G Pygb glycogen phosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:160,072,141...160,118,930
Ensembl chr 3:160,072,115...160,123,961 		JBrowse link
G Rbfox2 RNA binding fox-1 homolog 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 7:110,691,230...110,934,901
Ensembl chr 7:110,691,230...110,934,987 		JBrowse link
G Serpinf1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:119,390,207...119,475,863 		JBrowse link
G Slc24a3 solute carrier family 24 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 3:153,005,418...153,504,497
Ensembl chr 3:153,004,987...153,504,497 		JBrowse link
G Slc3a2 solute carrier family 3 member 2 disease_progression ISO RGD PMID:23516127 RGD:151361211 NCBI chr 1:215,033,601...215,048,064
Ensembl chr 1:215,033,601...215,048,064 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:23516127 RGD:151361211 NCBI chr19:66,843,808...66,872,412
Ensembl chr19:66,843,808...66,872,412 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869 		JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr10:84,655,468...84,678,259
Ensembl chr10:84,655,468...84,676,185 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr  X:24,582,732...24,627,462
Ensembl chr  X:24,582,690...24,627,462 		JBrowse link
G Son SON DNA and RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr11:44,336,818...44,409,127
Ensembl chr11:44,377,976...44,409,127 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691 		JBrowse link
G Sox4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr17:35,876,298...35,881,004
Ensembl chr17:35,875,756...35,884,024 		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 1:191,554,043...191,604,265 		JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 8:41,673,510...41,723,158
Ensembl chr 8:41,673,510...41,712,551 		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 3:75,928,303...76,035,059 		JBrowse link
G Top2a DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr10:84,441,954...84,473,093
Ensembl chr10:84,441,954...84,473,366 		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 chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Uhrf1 ubiquitin-like with PHD and ring finger domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685749 NCBI chr 9:1,220,162...1,241,792
Ensembl chr 9:1,222,063...1,241,792 		JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 2:22,497,035...22,595,955
Ensembl chr 2:22,497,035...22,595,955 		JBrowse link
G Wnt5b Wnt family member 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16762588 NCBI chr 4:154,281,852...154,406,081
Ensembl chr 4:154,281,852...154,405,681 		JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO DNA:hypermethylation:3' utr: (human) RGD PMID:21692051 RGD:11041796 NCBI chr 3:154,888,558...154,962,519
Ensembl chr 3:154,890,061...154,962,486 		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 chr12:47,299,171...47,333,457
Ensembl chr12:47,306,245...47,332,755 		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 IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:83,312,519...83,318,325 		JBrowse link
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,117,222...84,125,939
Ensembl chr 9:84,117,220...84,125,526 		JBrowse link
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,136,862...84,143,830
Ensembl chr 9:84,136,862...84,145,091 		JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:83,269,932...83,305,409 		JBrowse link
G Asic4 acid sensing ion channel subunit family member 4 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:84,390,104...84,411,538 		JBrowse link
G Atg9a autophagy related 9A ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,126,071...84,136,723
Ensembl chr 9:84,126,071...84,136,666 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,614,045...83,618,052
Ensembl chr 9:83,613,975...83,618,257 		JBrowse link
G Catip ciliogenesis associated TTC17 interacting protein ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,395,095...83,402,743
Ensembl chr 9:83,394,896...83,402,740 		JBrowse link
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,864,922...83,866,390
Ensembl chr 9:83,864,726...83,867,618 		JBrowse link
G Cfap65 cilia and flagella associated protein 65 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,907,882...83,942,812
Ensembl chr 9:83,907,276...83,942,714 		JBrowse link
G Chpf chondroitin polymerizing factor ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,411,824...84,416,523
Ensembl chr 9:84,411,829...84,416,523 		JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,533,369...83,558,207
Ensembl chr 9:83,533,369...83,558,197 		JBrowse link
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,082,148...84,088,888
Ensembl chr 9:84,082,149...84,089,788 		JBrowse link
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,895,921...83,906,651
Ensembl chr 9:83,895,922...83,899,131 		JBrowse link
G Ctdsp1 CTD small phosphatase 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,422,755...83,428,411
Ensembl chr 9:83,423,051...83,428,412 		JBrowse link
G Cxcr1 C-X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:83,215,292...83,226,872 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:83,183,808...83,188,602 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,712,402...83,743,222
Ensembl chr 9:83,713,293...83,743,215 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:84,298,447...84,307,347 		JBrowse link
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,179,702...84,187,942
Ensembl chr 9:84,179,695...84,187,942 		JBrowse link
G Dnpep aspartyl aminopeptidase ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,248,581...84,257,484
Ensembl chr 9:84,233,486...84,256,977 		JBrowse link
G Fev FEV transcription factor, ETS family member ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,887,844...83,891,718
Ensembl chr 9:83,887,844...83,891,737 		JBrowse link
G Glb1l galactosidase, beta 1-like ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,141,993...84,154,176
Ensembl chr 9:84,143,841...84,154,176 		JBrowse link
G Gmppa GDP-mannose pyrophosphorylase A ISO
ISS 		ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
OMIM:615510 		OMIM
ClinVar
MouseDO		 PMID:24035193 PMID:25741868 PMID:27717089 PMID:28492532 PMID:28574218 More... NCBI chr 9:84,375,373...84,382,917
Ensembl chr 9:84,375,425...84,382,916 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,309,895...83,312,397
Ensembl chr 9:83,311,246...83,315,608 		JBrowse link
G Ihh Indian hedgehog signaling molecule ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:83,952,986...83,959,203 		JBrowse link
G Mir26b microRNA 26b ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,425,709...83,425,793
Ensembl chr 9:83,425,709...83,425,793 		JBrowse link
G Mir375 microRNA 375 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,906,582...83,906,656 JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,974,995...84,071,161
Ensembl chr 9:83,974,997...84,070,594 		JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:84,416,240...84,442,415 		JBrowse link
G Plcd4 phospholipase C, delta 4 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,564,616...83,613,742
Ensembl chr 9:83,564,606...83,606,454 		JBrowse link
G Pnkd PNKD metallo-beta-lactamase domain containing ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,317,757...83,386,263
Ensembl chr 9:83,317,738...83,386,262 		JBrowse link
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,744,385...83,753,629
Ensembl chr 9:83,744,385...83,753,729 		JBrowse link
G Ptprn protein tyrosine phosphatase, receptor type, N ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,189,676...84,205,364
Ensembl chr 9:84,189,676...84,204,850 		JBrowse link
G Resp18 regulated endocrine-specific protein 18 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,213,844...84,220,186
Ensembl chr 9:84,213,467...84,221,299 		JBrowse link
G Retreg2 reticulophagy regulator family member 2 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,088,935...84,095,072
Ensembl chr 9:84,088,964...84,094,837 		JBrowse link
G Rnf25 ring finger protein 25 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,619,148...83,626,020
Ensembl chr 9:83,619,149...83,627,263 		JBrowse link
G Slc11a1 solute carrier family 11 member 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:83,406,427...83,417,238 		JBrowse link
G Slc23a3 solute carrier family 23, member 3 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,071,286...84,081,951
Ensembl chr 9:84,071,471...84,080,037 		JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,314,387...84,371,816
Ensembl chr 9:84,314,387...84,371,813 		JBrowse link
G Stk16 serine/threonine kinase 16 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,154,285...84,157,521
Ensembl chr 9:84,148,623...84,157,521 		JBrowse link
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,625,905...83,652,785
Ensembl chr 9:83,626,030...83,653,525 		JBrowse link
G Tmbim1 transmembrane BAX inhibitor motif containing 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,320,972...83,338,469
Ensembl chr 9:83,320,979...83,338,657 		JBrowse link
G Tmem198 transmembrane protein 198 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:84,416,752...84,422,758 		JBrowse link
G Ttll4 tubulin tyrosine ligase like 4 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,670,788...83,706,891
Ensembl chr 9:83,681,025...83,700,404 		JBrowse link
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,158,871...84,174,041
Ensembl chr 9:84,158,280...84,162,584 		JBrowse link
G Usp37 ubiquitin specific peptidase 37 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,467,966...83,567,848
Ensembl chr 9:83,467,966...83,533,172 		JBrowse link
G Vil1 villin 1 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,440,248...83,467,963
Ensembl chr 9:83,440,248...83,467,961 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,798,594...83,811,060
Ensembl chr 9:83,798,594...83,811,067 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,778,552...83,792,186
Ensembl chr 9:83,778,552...83,792,186 		JBrowse link
G Zfand2b zinc finger AN1-type containing 2B ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:84,114,170...84,117,115
Ensembl chr 9:84,114,190...84,117,554 		JBrowse link
G Zfp142 zinc finger protein 142 ISO ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME ClinVar PMID:28492532 NCBI chr 9:83,591,318...83,613,896
Ensembl chr 9:83,591,318...83,613,896 		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
ISS 		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Distal myopathy with vocal cord weakness | ClinVar Annotator: match by term: Myopathy, distal, 2
OMIM:606070
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More... NCBI chr18:27,428,190...27,474,421
Ensembl chr18:27,432,179...27,470,421 		JBrowse link
Branchial Cleft Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: BRANCHIAL CLEFT ANOMALIES ClinVar PMID:22126750 PMID:22740433 PMID:22786791 PMID:25741868 PMID:27302555 More... NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:131,859,696...131,900,072 		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 chr14:22,342,910...22,401,522
Ensembl chr14:22,342,927...22,438,590 		JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		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: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome OMIM
ClinVar		 PMID:9536098 PMID:15987455 PMID:17010193 PMID:17576681 PMID:18414213 More... NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:105,306,305...105,403,718 		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 chr18:52,803,292...52,953,431
Ensembl chr18:52,847,781...52,950,675 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Dysphagia ClinVar PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532 NCBI chr 3:57,022,822...57,220,752
Ensembl chr 3:57,022,822...57,220,709 		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 3:56,963,840...57,017,106
Ensembl chr 3:56,963,854...57,017,106 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO ClinVar Annotator: match by term: Dysphagia ClinVar NCBI chr 1:31,537,990...31,578,962
Ensembl chr 1:31,537,990...31,578,962 		JBrowse link
G Tamm41 TAM41 mitochondrial translocator assembly and maintenance homolog ISO ClinVar Annotator: match by term: Dysphagia ClinVar PMID:35321494 NCBI chr 4:149,743,216...149,776,388
Ensembl chr 4:149,699,693...149,776,369 		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 4:150,275,501...150,313,013 		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 1:74,432,685...74,440,832 		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 chr10:101,540,329...101,549,363 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO DNA:deletion RGD PMID:11555633 RGD:1302546 NCBI chr14:41,838,859...41,849,743
Ensembl chr14:41,838,861...41,849,417 		JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO RGD PMID:11555633 RGD:1302546 NCBI chr15:78,485,304...78,527,355
Ensembl chr15:84,899,806...84,942,095
Ensembl chr 3:84,899,806...84,942,095 		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: MEGF10-related myopathy OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17236770 PMID:17576681 PMID:22101682 More... NCBI chr18:52,803,292...52,953,431
Ensembl chr18:52,847,781...52,950,675 		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 chr10:7,503,351...7,599,474
Ensembl chr10:7,492,022...7,599,474 		JBrowse link
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:105,734,992...105,815,982 		JBrowse link
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr 2:117,413,206...117,436,758
Ensembl chr 2:117,418,601...117,436,754 		JBrowse link
G Ccl26 C-C motif chemokine ligand 26 ISO protein:increased expression:esophagus (human) RGD PMID:17900656 RGD:11081162 NCBI chr12:26,745,972...26,750,924 JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO RGD PMID:19672667 RGD:6482726 NCBI chr 5:156,359,725...156,362,302
Ensembl chr 5:156,359,725...156,362,297 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21451212 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320 		JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20616304 NCBI chr 4:36,645,344...36,653,548
Ensembl chr 4:36,645,571...36,653,546 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:decreased expression:sputum, macrophage RGD PMID:21426732 RGD:7240539 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194 		JBrowse link
G Tp63 tumor protein p63 ISS OMIM:109350 MouseDO NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Gastroesophageal reflux ClinVar PMID:25741868 NCBI chr19:50,282,337...50,324,010
Ensembl chr19:67,190,901...67,232,569 		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 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		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: GUCY1A1-related condition | ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia OMIM
ClinVar		 PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532 NCBI chr 2:169,716,684...169,780,360
Ensembl chr 2:169,716,709...169,779,737 		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 1:209,518,288...209,527,986
Ensembl chr 1:209,518,288...209,527,810 		JBrowse link
G Ctps1 CTP synthase 1 ISO mRNA:increased expression:nasopharynx (human) RGD PMID:19302751 RGD:5132859 NCBI chr 5:139,372,349...139,440,441
Ensembl chr 5:139,410,249...139,440,465 		JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17032313 NCBI chr19:47,137,360...47,207,961
Ensembl chr19:47,137,771...47,201,284 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21786012 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358 		JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17607721 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		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 3:139,697,187...139,733,368 		JBrowse link
G Tnfrsf19 TNF receptor superfamily member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20512145 NCBI chr15:39,268,305...39,334,566
Ensembl chr15:39,268,305...39,356,438 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Nasopharyngeal Neoplasms ClinVar PMID:1631151 PMID:6736287 PMID:7707106 PMID:7885831 PMID:8023157 More... RGD:1331525 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17384664 NCBI chr 7:58,433,326...58,503,853
Ensembl chr 7:58,384,643...58,503,852 		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 chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		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 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		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:19142888 PMID:28820634 RGD:126779560, RGD:126790562, RGD:150340692 NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629 		JBrowse link
G Atr ATR serine/threonine kinase treatment ISO RGD PMID:28820634 RGD:150340692 NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:105,306,305...105,403,718 		JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO protein:increased expression:epithelium of nasopharynx (human) RGD PMID:12099337 RGD:11526103 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900 		JBrowse link
G Brca1 BRCA1, DNA repair associated ISO DNA:nonsense mutation: :p.Q563* (human) RGD PMID:28857155 RGD:127229936 NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763 		JBrowse link
G Btk Bruton tyrosine kinase ISO mRNA:decreased expression:nasopharynx (human) RGD PMID:33096113 RGD:151347855 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:102,016,074...102,055,143 		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 chr19:40,213,367...40,218,262
Ensembl chr19:40,213,239...40,219,236 		JBrowse link
G Ccnd2 cyclin D2 disease_progression ISO RGD PMID:20473882 RGD:151665334 NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301
Ensembl chr 4:161,653,048...161,680,301 		JBrowse link
G Cd163 CD163 molecule exacerbates ISO protein:increased expression:nasopharynx, macrophage (human) RGD PMID:28395580 RGD:127285800 NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146 		JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit susceptibility ISO DNA:SNP: :rs3841324(human) RGD PMID:25329654 RGD:150527838 NCBI chr 8:64,265,879...64,294,233
Ensembl chr 8:64,265,879...64,294,233 		JBrowse link
G Clptm1l CLPTM1-like susceptibility ISO DNA:SNP: :rs401681(human)
protein:increased expression:nasopharynx
DNA:SNP:intron:rs31489(human) 		RGD PMID:26621837 PMID:26621837 PMID:26545403 PMID:31270100 RGD:11564613, RGD:11564613, RGD:11556976, RGD:150537099 NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:31,496,094...31,512,077 		JBrowse link
G Cr2 complement C3d receptor 2 susceptibility ISO DNA:SNP:5'UTR:24T>C (rs3813946)(human) RGD PMID:23612877 RGD:127338247 NCBI chr13:109,207,034...109,244,980
Ensembl chr13:109,213,867...109,244,552 		JBrowse link
G Csf1r colony stimulating factor 1 receptor treatment ISO RGD PMID:22267178 RGD:150524299 NCBI chr18:56,834,152...56,860,804
Ensembl chr18:56,817,049...56,860,806 		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 chr13:42,630,383...42,634,288
Ensembl chr13:42,630,104...42,634,459 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:SNP: :rs2031920 (human) RGD PMID:26582733 RGD:11061495 NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:205,267,505...205,293,495 		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 3:39,312,745...39,483,730
Ensembl chr 3:39,312,745...39,483,730 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO mRNA:increased expression:epithelium of nasopharynx RGD PMID:18023033 RGD:150429715 NCBI chr13:84,726,412...84,851,032
Ensembl chr13:84,731,180...84,850,288 		JBrowse link
G Efnb2 ephrin B2 disease_progression ISO protein:increased expression:nasopharynx (human) RGD PMID:23631129 RGD:153305949 NCBI chr16:87,485,215...87,529,224
Ensembl chr16:87,485,198...87,529,208 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:24825912 RGD:126781774 NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:1,579,816...1,601,120 		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 4:77,624,223...77,698,598
Ensembl chr 4:77,624,223...77,687,183 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 severity ISO protein:increased expression:nasopharynx (human) RGD PMID:26535066 RGD:150520063 NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,466,692...9,481,389 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750 		JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO mRNA:increased expression:nasopharynx (human) RGD PMID:30326930 RGD:153344557 NCBI chr 6:30,017,952...30,039,269
Ensembl chr 6:30,021,916...30,039,406 		JBrowse link
G Fubp1 far upstream element binding protein 1 exacerbates ISO protein:increased expression:nasopharynx (human) RGD PMID:26469968 RGD:11343512 NCBI chr 2:243,819,529...243,846,544
Ensembl chr 2:243,819,218...243,846,428 		JBrowse link
G Gpx1 glutathione peroxidase 1 susceptibility ISO DNA:missense mutation:CDS:p.P198L (human) RGD PMID:33616746 RGD:152995452 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO protein:decreased expression:nasopharynx (human) RGD PMID:26681223 RGD:150539449 NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378 		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 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Jak2 Janus kinase 2 severity ISO protein:increased expression:mucosa of nasopharynx (human) RGD PMID:30123088 RGD:149735327 NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762 		JBrowse link
G Kdm3a lysine demethylase 3A severity ISO protein:decreased expression:nasopharyngeal epithelium (human) RGD PMID:21541331 RGD:9590228 NCBI chr 4:105,189,208...105,233,526
Ensembl chr 4:105,189,208...105,233,370 		JBrowse link
G Kdr kinase insert domain receptor disease_progression ISO RGD PMID:16480593 RGD:126925191 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO RGD PMID:31646828 RGD:151356762 NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:10,353,735...10,568,620 		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 chr10:50,842,348...50,947,063
Ensembl chr10:50,844,034...50,947,185 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 treatment ISO human cell line in a mouse model RGD PMID:32449282 RGD:151665502 NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,751,357...6,812,294 		JBrowse link
G Mir132 microRNA 132 treatment ISO RGD PMID:29442000 RGD:151665745 NCBI chr10:60,522,033...60,522,133
Ensembl chr10:60,522,033...60,522,133 		JBrowse link
G Mir152 microRNA 152 ISO miRNA:decreased expression:nasopharynx RGD PMID:28000885 RGD:19165149 NCBI chr10:82,329,383...82,329,467
Ensembl chr10:82,329,383...82,329,467 		JBrowse link
G Mir154 microRNA 154 disease_progression ISO RNA:decreased expression:epithelium of nasopharynx (human) RGD PMID:32214824 RGD:152995464 NCBI chr 6:134,574,352...134,574,435
Ensembl chr 6:134,574,352...134,574,435 		JBrowse link
G Mir222 microRNA 222 ISO RNA:increased expression:nasopharynx RGD PMID:29115464 RGD:151708744 NCBI chr  X:6,022,621...6,022,723
Ensembl chr  X:6,022,621...6,022,723 		JBrowse link
G Mir31 microRNA 31 disease_progression
ameliorates 		ISO RNA:decreased expression:peripheral blood mononuclear cell (human)
Human cells in mouse model 		RGD PMID:31129965 PMID:25098679 RGD:152998936, RGD:152998921 NCBI chr 5:108,714,849...108,714,954 JBrowse link
G Mir423 microRNA 423 disease_progression ISO mRNA:decreased expression:nasopharynx (human) RGD PMID:30326930 RGD:153344557 NCBI chr10:62,412,272...62,412,350 JBrowse link
G Mst1r macrophage stimulating 1 receptor susceptibility ISO ClinVar Annotator: match by term: MST1R-related condition | ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3 OMIM
ClinVar		 PMID:25741868 PMID:26951679 PMID:28492532 NCBI chr 8:117,471,928...117,491,059
Ensembl chr 8:117,475,968...117,490,515 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming IEP RGD PMID:19068094 RGD:2325214 NCBI chr 1:206,346,400...206,378,367
Ensembl chr 1:206,346,400...206,378,367 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma ClinVar PMID:10480349 PMID:11182931 PMID:11333381 PMID:11349231 PMID:12408188 More... NCBI chr18:3,654,237...3,699,853
Ensembl chr18:3,654,237...3,699,800 		JBrowse link
G Ppia peptidylprolyl isomerase A ISO mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human) RGD PMID:31063269 RGD:150429622 NCBI chr14:85,491,223...85,496,884
Ensembl chr14:85,492,484...85,497,115 		JBrowse link
G Rac1 Rac family small GTPase 1 exacerbates ISO protein:increased expression:nasopharynx (human) RGD PMID:19506399 RGD:153350125 NCBI chr12:16,150,411...16,170,864
Ensembl chr12:16,128,649...16,172,109 		JBrowse link
G Rad52 RAD52 homolog, DNA repair protein severity ISO protein:increased expression:nasopharynx (human) RGD PMID:25026830 RGD:151361208 NCBI chr 4:154,778,320...154,802,002
Ensembl chr 4:154,778,320...154,800,021 		JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr18:1,969,351...1,980,207
Ensembl chr18:1,969,674...1,980,207 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr13:47,596,324...47,609,390
Ensembl chr 8:129,294,325...129,294,603
Ensembl chr13:129,294,325...129,294,603 		JBrowse link
G Snrpf small nuclear ribonucleoprotein polypeptide F ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 7:30,017,460...30,024,162
Ensembl chr 7:30,017,460...30,024,162 		JBrowse link
G Snrpg small nuclear ribonucleoprotein polypeptide G ISO mRNA:increased expression:nasopharynx (human) RGD PMID:24080422 RGD:10755709 NCBI chr 4:120,369,676...120,377,263
Ensembl chr 4:120,369,685...120,377,261
Ensembl chr  X:120,369,685...120,377,261 		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 5:159,058,258...159,131,789
Ensembl chr 5:159,058,258...159,165,934 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase disease_progression ISO RGD PMID:27078847 RGD:150521726 NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:166,511,985...166,559,462 		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 chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359 		JBrowse link
G Tert telomerase reverse transcriptase ISO protein:increased expression:nasopharynx RGD PMID:26621837 RGD:11564613 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 severity ISO human cells in mouse model RGD PMID:32774157 RGD:150429610 NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:224,662,654...224,746,186 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 treatment ISO RGD PMID:26149137 RGD:151347434 NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:15,528,921...15,543,979 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Nasopharyngeal carcinoma OMIM
ClinVar
RGD		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1631151 More... RGD:8547825 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression
severity 		ISO protein:increased expression:mucosa of nasopharynx (human)
protein:increased expression:nasopharynx (human) 		RGD PMID:16480593 PMID:30123088 PMID:23631129 RGD:126925191, RGD:149735327, RGD:153305949 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		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 chr10:54,780,873...54,797,919
Ensembl chr10:54,773,282...54,797,651 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 treatment
sexual_dimorphism
susceptibility 		ISO DNA:SNP:3'utr: (rs25489) (human)
DNA:missense mutation:cds: p.R194W (human)
associated with Tobacco Use Disorder; DNA:missense mutation:cds: p.R399Q (human)
DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human) 		RGD PMID:29108254 PMID:16796765 PMID:27356695 PMID:24175791 PMID:17630853 RGD:150530619, RGD:150573694, RGD:150573697, RGD:150573698, RGD:150573708 NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:89,268,644...89,296,613 		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 7:100,573,526...100,614,902
Ensembl chr 7:100,573,523...100,614,913 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749845 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:11072161 RGD:8547874 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		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 chr10:91,826,663...91,920,976
Ensembl chr10:91,830,428...91,920,791 		JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:28347920 RGD:24922223 NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178 		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 2:229,422,125...229,436,584
Ensembl chr 2:229,421,252...229,436,691 		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 1:31,496,094...31,512,148
Ensembl chr 1:31,496,094...31,512,077 		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 chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178 		JBrowse link
G Mtus1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:25885343 RGD:25330345 NCBI chr16:57,905,991...58,051,466
Ensembl chr16:57,906,128...58,051,474 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 susceptibility ISO DNA:SNP:intron: (rs13180356) (human) RGD PMID:26035306 RGD:151361290 NCBI chr 2:22,686,506...22,932,929
Ensembl chr 2:22,686,508...22,933,160 		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 chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		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 chr14:86,270,208...86,277,944
Ensembl chr14:86,270,208...86,277,944 		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: AAAS-related condition | ClinVar Annotator: match by term: Achalasia-alacrima syndrome | ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia
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 7:135,342,901...135,362,545 		JBrowse link
G Myg1 MYG1 exonuclease ISO ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia ClinVar NCBI chr 7:133,456,778...133,463,985
Ensembl chr 7:135,335,334...135,346,740 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Stomatognathic Diseases 1375
      Pharyngeal Diseases 260
        Branchial Cleft Anomalies 1
        Deglutition Disorders + 84
        Lemierre's syndrome 0
        Pharyngeal Neoplasms + 175
        Velopharyngeal Insufficiency 0
        amyotrophic lateral sclerosis type 21 1
        nasopharyngeal disease + 69
        pharyngitis + 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            Otorhinolaryngologic Diseases 1809
              Pharyngeal Diseases 260
                Branchial Cleft Anomalies 1
                Deglutition Disorders + 84
                Lemierre's syndrome 0
                Pharyngeal Neoplasms + 175
                Velopharyngeal Insufficiency 0
                amyotrophic lateral sclerosis type 21 1
                nasopharyngeal disease + 69
                pharyngitis + 2
paths to the root