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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:middle ear disease
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Accession:DOID:5100 term browser browse the term
Synonyms:xref: NCI:C27065
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Acute Otitis Media term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc4 actin related protein 2/3 complex, subunit 4 ISO mRNA, protein:increased expression:mucosa of middle ear RGD PMID:26711468 RGD:11553828 NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785 		JBrowse link
G Bmp1 bone morphogenetic protein 1 ISO mRNA:increased expression:middle ear (mouse) RGD PMID:21889218 RGD:127284853 NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:decreased expression:middle ear (mouse) RGD PMID:21889218 RGD:127284853 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO mRNA:decreased expression:middle ear (mouse) RGD PMID:21889218 RGD:127284853 NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO mRNA:increased expression:middle ear (mouse) RGD PMID:21889218 RGD:127284853 NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Bmp8a bone morphogenetic protein 8a ISO mRNA:decreased expression:middle ear (mouse) RGD PMID:21889218 RGD:127284853 NCBI chr 5:135,589,839...135,617,785
Ensembl chr 5:135,591,716...135,617,785 		JBrowse link
G Cald1 caldesmon 1 ISO mRNA, protein:decreased expression:mucosa of middle ear RGD PMID:26711468 RGD:11553828 NCBI chr 4:63,265,781...63,446,938
Ensembl chr 4:63,265,942...63,446,932 		JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO RGD PMID:10453785 RGD:11556224 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Dstn destrin, actin depolymerizing factor ISO mRNA, protein:increased expression:mucosa of middle ear RGD PMID:26711468 RGD:11553828 NCBI chr 3:131,284,647...131,311,361
Ensembl chr 3:131,284,648...131,311,379 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO mRNA:decreased expression:middle ear (mouse) RGD PMID:21889218 RGD:127284853 NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO mRNA:decreased expression:middle ear (mouse) RGD PMID:21889218 RGD:127284853 NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187 		JBrowse link
G Fgf6 fibroblast growth factor 6 ISO mRNA:decreased expression:middle ear (mouse) RGD PMID:21889218 RGD:127284853 NCBI chr 4:159,854,913...159,863,447
Ensembl chr 4:159,854,913...159,863,447 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO mRNA:decreased expression:middle ear (mouse) RGD PMID:21889218 RGD:127284853 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fn1 fibronectin 1 ISO RGD PMID:10453785 RGD:11556224 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Il17a interleukin 17A disease_progression IEP protein:increased expression:serum (rat) RGD PMID:27497403 RGD:40818299 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il22 interleukin 22 disease_progression IEP protein:increased expression:serum (rat) RGD PMID:27497403 RGD:40818299 NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186 		JBrowse link
G Lcp1 lymphocyte cytosolic protein 1 ISO mRNA, protein:increased expression:mucosa of middle ear RGD PMID:26711468 RGD:11553828 NCBI chr15:50,443,300...50,544,682
Ensembl chr15:50,488,149...50,544,680 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO mRNA:decreased expression:middle ear (mouse) RGD PMID:21307808 RGD:150340689 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO mRNA:increased expression:middle ear (mouse) RGD PMID:21889218 RGD:127284853 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO mRNA:increased expression:middle ear (mouse) RGD PMID:21889218 RGD:127284853 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO mRNA:increased expression:middle ear (mouse) RGD PMID:21889218 RGD:127284853 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO mRNA, protein:increased expression:mucosa of middle ear RGD PMID:26711468 RGD:11553828 NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277 		JBrowse link
G S100a9 S100 calcium binding protein A9 ISO mRNA, protein:increased expression:mucosa of middle ear RGD PMID:26711468 RGD:11553828 NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230 		JBrowse link
cholesteatoma of middle ear term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression: RGD PMID:23324739 RGD:8661795 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:11078065 RGD:8547968 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:auditory canal, epidermis (human) RGD PMID:12838021 RGD:8694474 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:8562031 RGD:8547586 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:12768791 PMID:7503375 RGD:7794712, RGD:11059515 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO protein:decreased expression:skin RGD PMID:8737779 RGD:8662931 NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:8737779 RGD:8662931 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:ear:
associated with Otitis Media;protein:increased expression:ear:		 RGD PMID:8652157 PMID:21311206 RGD:7829727, RGD:7364848 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:skin RGD PMID:12768791 RGD:7794712 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Cholesteatoma of middle ear ClinVar PMID:8220424 PMID:27993330 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Cholesteatoma of middle ear ClinVar PMID:25741868 PMID:27993330 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor ISO associated with Otitis Media;protein:increased expression:ear: RGD PMID:21311206 RGD:7364848 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tp53 tumor protein p53 ISO protein:increased expression:tympanic membrane,skin: RGD PMID:9455944 RGD:8547787 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 ISO protein:altered expression:mucosa of the middle ear: RGD PMID:11078065 RGD:8547968 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
mastoiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crp C-reactive protein disease_progression ISO RGD PMID:22578647 RGD:9491592 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
otitis media term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin treatment ISO RGD PMID:2459981 PMID:2473673 RGD:11553864 RGD:11553918 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G Bpifa1 BPI fold containing family A, member 1 ISS OMIM:166760 MouseDO NCBI chr 3:142,627,810...142,633,553
Ensembl chr 3:142,627,810...142,633,552 		JBrowse link
G Btc betacellulin IEP mRNA:decreased expression:middle ear RGD PMID:12148846 RGD:2306978 NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049 		JBrowse link
G C2 complement C2 ISO associated with Pneumococcal Infections RGD PMID:20065024 RGD:7411716 NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G C3 complement C3 ISO associated with Pneumococcal Infections RGD PMID:21502587 RGD:7401269 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cat catalase treatment IEP protein:decreased activity:cochlea,serum: RGD PMID:22173336 RGD:7401215 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISS OMIM:166760 MouseDO NCBI chr 7:111,216,835...111,223,305 JBrowse link
G Cdhr3 cadherin-related family member 3 ISO ClinVar Annotator: match by term: Susceptibility to nonsyndromic otitis media ClinVar PMID:34322716 NCBI chr 6:49,641,833...49,702,016
Ensembl chr 6:49,641,813...49,702,017 		JBrowse link
G Cfb complement factor B ISO associated with Pneumococcal Infections RGD PMID:20065024 RGD:7411716 NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Crp C-reactive protein treatment ISO RGD PMID:7724300 RGD:9491381 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Ctsb cathepsin B IEP mRNA:increased expression:middle ear mucosa (rat) RGD PMID:15179208 RGD:1342442 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Ctsk cathepsin K IEP mRNA:decreased expression:middle ear RGD PMID:15179208 RGD:1342442 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Ctsl cathepsin L IEP mRNA:decreased expression:middle ear mucosa (rat) RGD PMID:15179208 RGD:1342442 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 susceptibility ISO DNA:missense mutation:cds:p.T280M (human) RGD PMID:24718616 RGD:9491764 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO RGD PMID:20433028 RGD:11553910 NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136 		JBrowse link
G Defb1 defensin beta 1 ISO RGD PMID:22072973 RGD:11554036 NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISS OMIM:166760 MouseDO NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890 		JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment ISO RGD PMID:22610099 RGD:7771533 NCBI chr10:16,680,478...16,683,275 JBrowse link
G E2f4 E2F transcription factor 4 ISS OMIM:166760 MouseDO NCBI chr19:33,174,396...33,181,806
Ensembl chr19:33,174,410...33,181,806 		JBrowse link
G Eda ectodysplasin-A ISO RGD PMID:31028034 RGD:14398763 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Edar ectodysplasin-A receptor treatment ISO RGD PMID:31028034 RGD:14398763 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Edaradd EDAR associated via death domain IAGP RGD PMID:31028034 RGD:14398763 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISS OMIM:166760 MouseDO NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISS OMIM:166760 MouseDO NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976 		JBrowse link
G Fbxo11 F-box protein 11 ISS OMIM:166760 MouseDO NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISS OMIM:166760 MouseDO NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fut2 fucosyltransferase 2 ISO ClinVar Annotator: match by term: Familial Otitis Media ClinVar PMID:7876234 PMID:7876235 PMID:8755920 PMID:8928486 PMID:12692541 More... NCBI chr 1:96,119,549...96,139,567
Ensembl chr 1:96,119,371...96,140,360 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:serum RGD PMID:20926702 RGD:8547580 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Idua alpha-L-iduronidase ISS OMIM:166760 MouseDO NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G Ifng interferon gamma ISO associated with adenoidal hypertrophy; protein:decreased expression:T cell:
associated with Pneumococcal infections;		 RGD PMID:18266836 PMID:16730398 RGD:7987910, RGD:8142343 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il10 interleukin 10 susceptibility ISO
IEP		 associated with Pneumococcal Infections;protein:increased expression:middle ear, serum
associated with Pneumococcal Infections;mRNA:increased expression:middle ear
DNA:SNP:promoter:-1082G>A (human)
associated with Haemophilus Infections
associated with respiratory syncytial virus infectious disease, associated with common cold;DNA:SNPs, haplotypes:promoter:-1082G>A, -819T>C, -592A>C (human)		 RGD PMID:23404508 PMID:14500471 PMID:17908769 PMID:18524391 PMID:18560870 More... RGD:7364816, RGD:7365082, RGD:7365054, RGD:4891398, RGD:7365038, RGD:7365029 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il17a interleukin 17A severity ISO RGD PMID:24664502 RGD:8698659 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il1a interleukin 1 alpha IEP associated with Haemophilus Infections;mRNA, protein:increased expression:middle ear RGD PMID:18524391 RGD:4891398 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta IEP RGD PMID:22173336 RGD:7401215 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il2 interleukin 2 disease_progression ISO RGD PMID:7769948 RGD:8662922 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il6 interleukin 6 susceptibility ISO
IEP		 DNA:polymorphism:promoter:-174G>C(human)
mRNA,protein:increased expression:middle ear,inner ear:
mRNA,protein:increased expression:middle ear:		 RGD PMID:17908769 PMID:21271590 PMID:11165648 RGD:7365054, RGD:8547980, RGD:7829801 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Lmna lamin A/C ISS OMIM:166760 MouseDO NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lta4h leukotriene A4 hydrolase ISO RGD PMID:20433028 RGD:11553910 NCBI chr 7:27,969,796...28,001,600
Ensembl chr 7:27,969,789...28,001,600 		JBrowse link
G Ltb4r leukotriene B4 receptor ISO RGD PMID:20433028 RGD:11553910 NCBI chr15:29,263,199...29,265,716 JBrowse link
G Ltc4s leukotriene C4 synthase ISO RGD PMID:20433028 RGD:11553910 NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:haplotype,SNP:promoter,exons: RGD PMID:16750996 RGD:8693692 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO
ISS		 OMIM:166760 MouseDO
RGD		 PMID:26611891 RGD:11054805 NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590 		JBrowse link
G Muc1 mucin 1, cell surface associated IEP associated with Pneumococcal Infections;mRNA:increased expression:middle ear RGD PMID:11576628 RGD:2303743 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Muc3 mucin 3 IEP associated with Pneumococcal Infections RGD PMID:11576628 RGD:2303743 NCBI chr12:19,527,251...19,536,924
Ensembl chr12:19,527,321...19,538,522 		JBrowse link
G Muc4 mucin 4, cell surface associated IEP
ISO		 associated with Pneumococcal Infections;mRNA:increased expression:middle ear RGD PMID:11576628 PMID:14690056 RGD:2303743, RGD:7349395 NCBI chr11:68,008,245...68,053,242 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming IEP
ISO		 mRNA:increased expression:ear
associated with CHARGE Syndrome		 RGD PMID:11425202 PMID:22539951 RGD:2324973, RGD:7349405 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO mRNA:increased expression:middle ear
associated with CHARGE Syndrome		 RGD PMID:14690056 PMID:22539951 RGD:7349395, RGD:7349405 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISS OMIM:166760 MouseDO NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISS OMIM:166760 MouseDO NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		JBrowse link
G Nisch nischarin ISS OMIM:166760 MouseDO NCBI chr16:6,364,370...6,400,675
Ensembl chr16:6,364,374...6,400,668 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP associated with Haemophilus Infections; mRNA, protein:increased expression:middle ear RGD PMID:18524391 RGD:4891398 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISS OMIM:166760 MouseDO NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
G Plau plasminogen activator, urokinase treatment ISO RGD PMID:2473673 RGD:11553864 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Otitis media, susceptibility to ClinVar PMID:10233898 PMID:12850227 PMID:12876630 PMID:15269832 PMID:16849641 More... NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786 		JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (human) RGD PMID:23543299 RGD:7242409 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Rpl38 ribosomal protein L38 ISS OMIM:166760 MouseDO NCBI chr10:99,701,330...99,705,004
Ensembl chr10:99,701,362...99,705,004
Ensembl chr14:99,701,362...99,705,004
Ensembl chr 3:99,701,362...99,705,004
Ensembl chr 2:99,701,362...99,705,004
Ensembl chr16:99,701,362...99,705,004 		JBrowse link
G Sall4 spalt-like transcription factor 4 ISS OMIM:166760 MouseDO NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822 		JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 IEP mRNA,protein:increased expression:epithelial cell RGD PMID:15799573 RGD:5144051 NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610 		JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 IEP RGD PMID:12206256 RGD:6484586 NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765 		JBrowse link
G Serpina1 serpin family A member 1 treatment ISO RGD PMID:2459981 PMID:2473673 RGD:11553864 RGD:11553918 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISS OMIM:166760 MouseDO NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: Otitis media, susceptibility to ClinVar PMID:32709676 NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453 		JBrowse link
G Spink5 serine peptidase inhibitor, Kazal type 5 ISO ClinVar Annotator: match by term: Susceptibility to nonsyndromic otitis media ClinVar PMID:11511292 PMID:25741868 PMID:26865388 PMID:28492532 PMID:32709676 NCBI chr18:36,264,452...36,333,143
Ensembl chr18:36,264,452...36,332,185 		JBrowse link
G Tbx1 T-box transcription factor 1 ISS OMIM:166760 MouseDO NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISS OMIM:166760 MouseDO NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:middle ear:
protein:increased expression:mucosa of middle ear,skin of ear canal:
associated with Pneumococcal Infections;
associated with Haemophilus Infections;		 RGD PMID:23380629 PMID:24690988 PMID:19414550 PMID:19586996 RGD:7800666, RGD:8552995, RGD:8552783, RGD:7777086 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO associated with Haemophilus Infections;
protein:increased expression:mucosa of middle ear,skin of ear canal:
protein:increased expression:middle ear:		 RGD PMID:19586996 PMID:24690988 PMID:23380629 RGD:7777086, RGD:8552995, RGD:7800666 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor IEP
ISO		 associated with Haemophilus Infections; mRNA, protein:increased expression:middle ear
protein:increased expression:ear:		 RGD PMID:18524391 PMID:22173336 PMID:21818352 RGD:4891398, RGD:7401215, RGD:7394703 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tp73 tumor protein p73 ISS OMIM:166760 MouseDO NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO mRNA:increased expression:middle ear:
mRNA,protein:increased expression:middle ear,inner ear:		 RGD PMID:22104377 PMID:21271590 RGD:8547975, RGD:8547980 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Otitis Media with Effusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO RGD PMID:2454602 RGD:11560528 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G C3 complement C3 disease_progression ISO RGD PMID:11037838 RGD:7401253 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 IEP mRNA:increased expression:mucosa of the middle ear; RGD PMID:12875575 RGD:8547977 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Glb1 galactosidase, beta 1 ISO RGD PMID:2837976 RGD:11557999 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Gusb glucuronidase, beta ISO RGD PMID:2837976 RGD:11557999 NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Ifng interferon gamma ISO protein:decreased expression:serum:
protein:decreased expression:middle ear:		 RGD PMID:16055981 PMID:15938212 RGD:7987911, RGD:8142354 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:18568516 RGD:7394746 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il4 interleukin 4 IEP protein:increased expression:middle ear RGD PMID:18975780 RGD:2317282 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il4r interleukin 4 receptor treatment ISO
IMP		 RGD PMID:12297806 PMID:12297806 RGD:11530017, RGD:11530017 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Kdr kinase insert domain receptor IEP mRNA:increased expression:mucosa of the middle ear; RGD PMID:12875575 RGD:8547977 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Ltf lactotransferrin treatment ISO RGD PMID:21079169 RGD:11554025 NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO mRNA:increased expression:middle ear
mRNA:decreased expression:ear		 RGD PMID:20713760 PMID:22336013 RGD:7364731, RGD:7364764 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO mRNA:increased expression:middle ear
mRNA:decreased expression:ear		 RGD PMID:16540890 PMID:22336013 RGD:7364744, RGD:7364764 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250 		JBrowse link
G Oxgr1 oxoglutarate receptor 1 ISO RGD PMID:23200873 RGD:7775025 NCBI chr15:97,145,947...97,146,960
Ensembl chr15:97,144,293...97,166,612 		JBrowse link
G Ptafr platelet-activating factor receptor treatment ISO RGD PMID:14759570 RGD:11554333 NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251 		JBrowse link
G Serpina1 serpin family A member 1 ISO RGD PMID:2454602 RGD:11560528 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:22336013 RGD:7364764 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO RGD PMID:22336013 RGD:7364764 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:middle ear effusion: RGD PMID:18568516 RGD:7394746 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Vegfa vascular endothelial growth factor A IEP protein:increased expression:mucosa of middle ear: RGD PMID:22907120 RGD:8547964 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
suppurative otitis media term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO RGD PMID:1696441 RGD:11556250 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G Alb albumin ISO RGD PMID:1696441 RGD:11556250 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Ifng interferon gamma disease_progression ISO RGD PMID:19640314 RGD:8142346 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
tympanosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO protein:increased activity:erythrocyte: RGD PMID:14710000 RGD:9479056 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISS MouseDO NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Tlr4 toll-like receptor 4 ISO DNA:polymorphism:exon:D299G(human) RGD PMID:19398177 RGD:7800656 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      auditory system disease 994
        middle ear disease 110
          cholesteatoma of middle ear + 19
          dislocation of ear ossicle 0
          middle ear adenoma 0
          middle ear cancer + 0
          necrosis of ear ossicle 0
          otitis media + 102
          polyp of middle ear 0
          tympanic membrane disease + 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            Otorhinolaryngologic Diseases 1740
              auditory system disease 994
                middle ear disease 110
                  cholesteatoma of middle ear + 19
                  dislocation of ear ossicle 0
                  middle ear adenoma 0
                  middle ear cancer + 0
                  necrosis of ear ossicle 0
                  otitis media + 102
                  polyp of middle ear 0
                  tympanic membrane disease + 3
paths to the root