ONTOLOGY REPORT - ANNOTATIONS


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;   Pharynx Disease;   pharyngeal disease;   pharynx diseases
 primary_id: MESH:D010608
 alt_id: RDO:0005316
For additional species annotation, visit the Alliance of Genome Resources.


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achalasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aaas aladin WD repeat nucleoporin JBrowse link 7 143,937,198 143,956,668 RGD:1598514
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:13592920
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:13592920
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147806
RGD:11554173
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147806
RGD:11554173
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link 15 90,172,769 90,177,823 RGD:13592920
G Vipr1 vasoactive intestinal peptide receptor 1 JBrowse link 8 130,283,453 130,313,431 RGD:5685626
adenoid cystic carcinoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp1 aquaporin 1 (Colton blood group) JBrowse link 4 85,551,503 85,563,683 RGD:11554173
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:11554173
G Arid2 AT-rich interaction domain 2 JBrowse link 7 137,680,564 137,798,329 RGD:8554872
G Arid4b AT-rich interaction domain 4B JBrowse link 17 53,831,353 53,955,897 RGD:11554173
G Arid5b AT-rich interaction domain 5B JBrowse link 20 21,713,900 21,881,193 RGD:11554173
G Aspm abnormal spindle microtubule assembly JBrowse link 13 56,546,021 56,591,793 RGD:11554173
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:11554173
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:11554173
G Bap1 Brca1 associated protein 1 JBrowse link 16 7,336,685 7,345,511 RGD:8554872
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link 14 108,826,717 108,921,197 RGD:11554173
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:11554173
RGD:8554872
G Bcorl1 BCL6 co-repressor-like 1 JBrowse link X 135,187,468 135,233,859 RGD:11554173
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:11554173
G Brd1 bromodomain containing 1 JBrowse link 7 129,676,119 129,724,303 RGD:11554173
G Ccnd1 cyclin D1 JBrowse link 1 218,090,750 218,100,447 RGD:11554173
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:11554173
G Cmtr2 cap methyltransferase 2 JBrowse link 19 41,426,536 41,433,367 RGD:11554173
G Cntn6 contactin 6 JBrowse link 4 136,512,201 136,904,355 RGD:11554173
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:11554173
RGD:8554872
G Dapk1 death associated protein kinase 1 JBrowse link 17 4,297,038 4,454,941 RGD:11554173
G Dtl denticleless E3 ubiquitin protein ligase homolog JBrowse link 13 110,219,276 110,257,345 RGD:11554173
G Dtx4 deltex E3 ubiquitin ligase 4 JBrowse link 1 228,729,842 228,759,783 RGD:11554173
G Efhd1 EF-hand domain family, member D1 JBrowse link 9 94,362,249 94,408,884 RGD:11554173
G En1 engrailed homeobox 1 JBrowse link 13 36,532,758 36,537,888 RGD:11554173
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:11554173
G Erbin erbb2 interacting protein JBrowse link 2 33,880,860 33,952,806 RGD:11554173
G Espl1 extra spindle pole bodies like 1, separase JBrowse link 7 143,896,890 143,923,868 RGD:11554173
G Fanca FA complementation group A JBrowse link 19 56,067,548 56,126,075 RGD:11554173
G Fat1 FAT atypical cadherin 1 JBrowse link 16 50,372,150 50,501,716 RGD:11554173
G Fbxw7 F-box and WD repeat domain containing 7 JBrowse link 2 184,230,191 184,309,805 RGD:11554173
RGD:8554872
G Fgf16 fibroblast growth factor 16 JBrowse link X 76,786,728 76,796,311 RGD:11554173
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:8554872
G Fgfr4 fibroblast growth factor receptor 4 JBrowse link 17 9,990,072 10,004,339 RGD:11554173
G Foxo3 forkhead box O3 JBrowse link 20 46,428,078 46,519,156 RGD:11554173
G Foxp2 forkhead box P2 JBrowse link 4 41,364,441 41,944,685 RGD:11554173
G Gas2 growth arrest-specific 2 JBrowse link 1 107,234,389 107,363,624 RGD:11554173
G Gas6 growth arrest specific 6 JBrowse link 16 81,213,364 81,243,824 RGD:11554173
G Gins2 GINS complex subunit 2 JBrowse link 19 54,151,048 54,163,701 RGD:11554173
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 JBrowse link 2 181,045,694 181,103,321 RGD:11554173
G Hist1h1e histone cluster 1 H1 family member e JBrowse link 17 43,734,461 43,735,120 RGD:11554173
G Homer3 homer scaffold protein 3 JBrowse link 16 20,880,447 20,890,968 RGD:11554173
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:11554173
RGD:8554872
G Idh1 isocitrate dehydrogenase (NADP(+)) 1, cytosolic JBrowse link 9 71,882,108 71,911,645 RGD:8554872
G Igfbp2 insulin-like growth factor binding protein 2 JBrowse link 9 80,118,029 80,144,804 RGD:11554173
G Il17rd interleukin 17 receptor D JBrowse link 16 2,670,471 2,737,271 RGD:11554173
G Insrr insulin receptor-related receptor JBrowse link 2 187,161,817 187,181,400 RGD:11554173
G Irx4 iroquois homeobox 4 JBrowse link 1 32,634,774 32,645,151 RGD:11554173
G Isyna1 inositol-3-phosphate synthase 1 JBrowse link 16 20,589,497 20,592,333 RGD:11554173
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:11554173
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:11554173
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
G Jmjd1c jumonji domain containing 1C JBrowse link 20 22,751,743 22,914,080 RGD:11554173
G Kansl1 KAT8 regulatory NSL complex subunit 1 JBrowse link 10 92,388,045 92,517,449 RGD:11554173
G Kat6a lysine acetyltransferase 6A JBrowse link 16 73,942,669 74,020,750 RGD:11554173
G Kdm6a lysine demethylase 6A JBrowse link X 4,805,493 4,945,788 RGD:11554173
G Kdm6b lysine demethylase 6B JBrowse link 10 56,000,494 56,009,582 RGD:11554173
G Kmt2c lysine methyltransferase 2C JBrowse link 4
4
82,506
6,083,650
109,986
6,294,413
RGD:11554173
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:8554872
G Krt15 keratin 15 JBrowse link 10 88,046,803 88,050,622 RGD:11554173
G Krt5 keratin 5 JBrowse link 7 143,320,142 143,324,536 RGD:11554173
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Magi1 membrane associated guanylate kinase, WW and PDZ domain containing 1 JBrowse link 4 125,684,816 126,300,013 RGD:11554173
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 JBrowse link 4 10,995,241 12,472,423 RGD:11554173
G Maml3 mastermind-like transcriptional coactivator 3 JBrowse link 2 140,734,138 141,276,886 RGD:11554173
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:11554173
G Marcks myristoylated alanine rich protein kinase C substrate JBrowse link 20 42,966,140 42,971,838 RGD:11554173
G Mark2 microtubule affinity regulating kinase 2 JBrowse link 1 222,525,547 222,590,727 RGD:11554173
G Mecom MDS1 and EVI1 complex locus JBrowse link 2 117,396,084 117,993,604 RGD:8554872
G Mga MAX dimerization protein MGA JBrowse link 3 111,669,645 111,760,822 RGD:11554173
G Mier2 MIER family member 2 JBrowse link 7 13,039,759 13,055,632 RGD:11554173
G Mlc1 modulator of VRAC current 1 JBrowse link 7 129,949,984 129,970,314 RGD:11554173
G Morf4l1 mortality factor 4 like 1 JBrowse link 8 97,473,454 97,494,974 RGD:11554173
G Myb MYB proto-oncogene, transcription factor JBrowse link 1 16,658,178 16,690,135 RGD:11554173
G Mybl1 MYB proto-oncogene like 1 JBrowse link 5 9,279,756 9,315,112 RGD:11554173
G Mycbp Myc binding protein JBrowse link 5 141,560,192 141,567,399 RGD:11554173
G Mycn MYCN proto-oncogene, bHLH transcription factor JBrowse link 6 38,222,554 38,228,419 RGD:11554173
G Neto2 neuropilin and tolloid like 2 JBrowse link 19 22,450,579 22,486,530 RGD:11554173
G Nfib nuclear factor I/B JBrowse link 5 100,436,343 100,647,962 RGD:11554173
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:11554173
RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:11554173
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor JBrowse link X 15,324,263 15,327,705 RGD:11554173
G Pdzk1 PDZ domain containing 1 JBrowse link 2 198,965,685 198,999,323 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:11554173
RGD:8554872
G Prkdc protein kinase, DNA-activated, catalytic subunit JBrowse link 11 89,293,547 89,510,948 RGD:11554173
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
G Pygb glycogen phosphorylase B JBrowse link 3 146,581,063 146,629,504 RGD:11554173
G Rbfox2 RNA binding fox-1 homolog 2 JBrowse link 7 118,157,093 118,396,733 RGD:11554173
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:11554173
G Setd2 SET domain containing 2, histone lysine methyltransferase JBrowse link 8 118,802,478 118,888,224 RGD:11554173
G Sf3b1 splicing factor 3b, subunit 1 JBrowse link 9 61,594,620 61,634,510 RGD:8554872
G Slc24a3 solute carrier family 24 member 3 JBrowse link 3 139,333,942 139,835,728 RGD:11554173
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:11554173
RGD:8554872
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:8554872
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 10 87,116,827 87,138,890 RGD:11554173
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:11554173
G Son Son DNA binding protein JBrowse link 11 31,806,598 31,837,769 RGD:11554173
G Sox11 SRY box 11 JBrowse link 6 46,629,967 46,631,988 RGD:11554173
G Sox4 SRY box 4 JBrowse link 17 37,615,022 37,619,728 RGD:11554173
G Srcap Snf2-related CREBBP activator protein JBrowse link 1 198,957,764 199,007,576 RGD:11554173
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 JBrowse link 8 36,264,741 36,314,811 RGD:11554173
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:8554872
G Tlk1 tousled-like kinase 1 JBrowse link 3 57,012,738 57,376,336 RGD:11554173
G Top2a DNA topoisomerase II alpha JBrowse link 10 86,901,467 86,930,947 RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8547828
RGD:8554872
RGD:11554173
G Uhrf1 ubiquitin-like with PHD and ring finger domains 1 JBrowse link 9 10,738,211 10,758,403 RGD:11554173
G Vcan versican JBrowse link 2 18,490,102 18,587,340 RGD:11554173
G Wnt5b Wnt family member 5B JBrowse link 4 151,500,962 151,516,894 RGD:11554173
G Xrn2 5'-3' exoribonuclease 2 JBrowse link 3 141,224,858 141,298,272 RGD:11041796
Alacrima, Achalasia, and Mental Retardation Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppa GDP-mannose pyrophosphorylase A JBrowse link 9 82,632,267 82,639,811 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Matr3 matrin 3 JBrowse link 18 28,351,691 28,390,764 RGD:7240710
RGD:8554872
CREST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:12910471
Cutaneous Telangiectasia and Cancer Syndrome, Familial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link 8 103,673,578 103,770,886 RGD:7240710
RGD:8554872
Deglutition Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Megf10 multiple EGF-like domains 10 JBrowse link 18 52,215,652 52,366,212 RGD:11554173
G Tsen2 tRNA splicing endonuclease subunit 2 JBrowse link 4 147,455,506 147,490,869 RGD:11554173
G Tsen34 tRNA splicing endonuclease subunit 34 JBrowse link 1 64,023,924 64,031,756 RGD:11554173
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:11554173
G Uchl1 ubiquitin C-terminal hydrolase L1 JBrowse link 14 43,133,224 43,143,942 RGD:1302546
G Uchl3 ubiquitin C-terminal hydrolase L3 JBrowse link 15 86,153,624 86,198,127 RGD:1302546
gastroesophageal reflux disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abat 4-aminobutyrate aminotransferase JBrowse link 10 7,093,406 7,200,439 RGD:11554173
G Ccl26 C-C motif chemokine ligand 26 JBrowse link 12 24,157,182 24,161,870 RGD:11081162
G Pla2g2a phospholipase A2 group IIA JBrowse link 5 157,282,650 157,285,295 RGD:6482726
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:11554173
G Tac1 tachykinin, precursor 1 JBrowse link 4 33,638,853 33,646,819 RGD:11554173
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:7240539
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:13592920
G Zfp469 zinc finger protein 469 JBrowse link 19 54,843,864 55,083,935 RGD:8554872
Hypopharyngeal Neoplasms term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:8158078
Moyamoya Disease 6 with Achalasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 JBrowse link 2 181,045,694 181,103,321 RGD:8554872
RGD:7240710
Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Megf10 multiple EGF-like domains 10 JBrowse link 18 52,215,652 52,366,212 RGD:7240710
RGD:8554872
Nasopharyngeal Neoplasms term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnd1 cyclin D1 JBrowse link 1 218,090,750 218,100,447 RGD:2296033
G Ctps1 CTP synthase 1 JBrowse link 5 139,475,934 139,505,065 RGD:5132859
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:11554173
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:11554173
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:8554872
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Mecom MDS1 and EVI1 complex locus JBrowse link 2 117,396,084 117,993,604 RGD:11554173
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:11554173
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Rassf2 Ras association domain family member 2 JBrowse link 3 124,574,088 124,610,267 RGD:11554173
G Tnfrsf19 TNF receptor superfamily member 19 JBrowse link 15 41,249,820 41,316,203 RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:1331525
RGD:8554872
G Wif1 Wnt inhibitory factor 1 JBrowse link 7 63,094,955 63,165,158 RGD:11554173
nasopharynx carcinoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:11526103
G Kdm3a lysine demethylase 3A JBrowse link 4 99,503,160 99,547,315 RGD:9590228
G Mst1r macrophage stimulating 1 receptor JBrowse link 8 116,686,601 116,700,132 RGD:8554872
RGD:13592920
G Muc5b mucin 5B, oligomeric mucus/gel-forming JBrowse link 1 214,778,459 214,811,237 RGD:2325214
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide JBrowse link 18 1,866,066 1,876,613 RGD:10755709
G Snrpe small nuclear ribonucleoprotein polypeptide E JBrowse link 13 50,252,707 50,258,951 RGD:10755709
G Snrpf small nuclear ribonucleoprotein polypeptide F JBrowse link 7 34,478,331 34,485,034 RGD:10755709
G Snrpg small nuclear ribonucleoprotein polypeptide G JBrowse link 4 118,167,267 118,174,846 RGD:10755709
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:7240710
RGD:8554872
RGD:8547825
Oropharyngeal Neoplasms term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndrg1 N-myc downstream regulated 1 JBrowse link 7 107,734,326 107,775,701 RGD:11554173
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:11554173
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11554173
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:11554173
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8547874
Pharyngeal Neoplasms term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adh7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide JBrowse link 2 243,500,540 243,516,865 RGD:11554173
Plummer-Vinson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbbp8 RB binding protein 8, endonuclease JBrowse link 18 3,134,630 3,227,702 RGD:8554872
tonsillitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743605
triple-A syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aaas aladin WD repeat nucleoporin JBrowse link 7 143,937,198 143,956,668 RGD:7240710
RGD:8554872
RGD:11554173
G Myg1 melanocyte proliferating gene 1 JBrowse link 7 143,929,662 143,936,865 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    Stomatognathic Diseases 853
      Pharyngeal Diseases 157
        Branchial Cleft Anomalies 0
        Deglutition Disorders + 27
        Lemierre's syndrome 0
        Pharyngeal Neoplasms + 131
        Velopharyngeal Insufficiency 0
        amyotrophic lateral sclerosis type 21 1
        nasopharyngeal disease + 23
        pharyngitis + 1
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        sensory system disease 4264
          Otorhinolaryngologic Diseases 1042
            Pharyngeal Diseases 157
              Branchial Cleft Anomalies 0
              Deglutition Disorders + 27
              Lemierre's syndrome 0
              Pharyngeal Neoplasms + 131
              Velopharyngeal Insufficiency 0
              amyotrophic lateral sclerosis type 21 1
              nasopharyngeal disease + 23
              pharyngitis + 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.