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: Nasal Polyps
Accession: DOID:9001472
browse the term
Definition: Focal accumulations of EDEMA fluid in the NASAL MUCOSA accompanied by HYPERPLASIA of the associated submucosal connective tissue. Polyps may be NEOPLASMS, foci of INFLAMMATION, degenerative lesions, or malformations.
Synonyms: exact_synonym: Nasal Polyp; Nasal Polyposis
xref: EFO:1000391 ; MESH:D009298
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
associated with Chronic Rhinosinusitis;protein:increased expression:nasal sinus (human)
RGD
PMID:22223515
RGD:8657074
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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Adrb2
adrenoceptor beta 2
susceptibility
ISO
DNA:polymorphism:p.R16G(human)
RGD
PMID:17621827
RGD:8548469
NCBI chr18:57,912,760...57,914,802
Ensembl chr18:55,502,903...55,644,512
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Alox12
arachidonate 12-lipoxygenase, 12S type
ISO
mRNA:decreased expression:nasal cavity epithelium
RGD
PMID:20554417
RGD:5509597
NCBI chr10:55,456,923...55,469,239
Ensembl chr10:54,958,271...54,970,542
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Alox15
arachidonate 15-lipoxygenase
ISO
mRNA:increased expression:nasal cavity epithelium CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30643255 PMID:20554417
RGD:5509597
NCBI chr10:55,559,060...55,567,535
Ensembl chr10:55,060,412...55,068,874
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Ang
angiogenin
ISO
RGD
PMID:21711968
RGD:6892710
NCBI chr15:26,786,233...26,796,883
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Anxa1
annexin A1
ISO
RGD
PMID:20549082
RGD:7421567
NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343
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Bdnf
brain-derived neurotrophic factor
ISO
associated with Sinusitis;protein:decreased expression:respiratory system mucosa
RGD
PMID:19958603
RGD:4891064
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
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Cat
catalase
ISO
protein:increased activity:nasal concha:
RGD
PMID:16287205
RGD:9479048
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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Ccl1
C-C motif chemokine ligand 1
ISO
associated with Sinusitis
RGD
PMID:20598643
RGD:4891418
NCBI chr10:67,625,962...67,628,740
Ensembl chr10:67,128,331...67,131,159
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Ccl11
C-C motif chemokine ligand 11
ISO
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:10415058
RGD:4145448
NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,028,328...67,032,926
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:sinus:
RGD
PMID:22287435
RGD:7483612
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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Ccl20
C-C motif chemokine ligand 20
ISO
associated with Allergic Rhinitis associated with Rhinosinusitis
RGD
PMID:19027509 PMID:22287435
RGD:7483586 , RGD:7483612
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:84,388,904...84,391,629
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Ccl24
C-C motif chemokine ligand 24
ISO
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:10415058
RGD:4145448
NCBI chr12:26,737,423...26,741,420
Ensembl chr12:21,100,835...21,104,893
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Ccl26
C-C motif chemokine ligand 26
ISO
associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium
RGD
PMID:21303604
RGD:5130929
NCBI chr12:26,745,972...26,750,924
Ensembl chr12:21,109,421...21,114,335
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22287435
RGD:7483612
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
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Ccr6
C-C motif chemokine receptor 6
ISO
associated with Rhinosinusitis
RGD
PMID:22287435
RGD:7483612
NCBI chr 1:55,022,037...55,055,857
Ensembl chr 1:52,474,168...52,498,603
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Chia
chitinase, acidic
ISO
associated with Sinusitis; mRNA:increased expression:mucosa of ethmoidal sinus (human)
RGD
PMID:16871939
RGD:5024927
NCBI chr 2:196,302,687...196,344,849
Ensembl chr 2:193,614,114...193,656,533
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
associated with Sinusitis;mRNA:increased expression:respiratory system mucosa
RGD
PMID:19178793
RGD:5134986
NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,193,365...17,195,215
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Cxcl3
C-X-C motif chemokine ligand 3
ISO
associated with Sinusitis;mRNA:increased expression:respiratory system mucosa
RGD
PMID:19178793
RGD:5134986
NCBI chr14:17,571,900...17,573,624
Ensembl chr14:17,270,146...17,289,511
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Cysltr1
cysteinyl leukotriene receptor 1
ISO
protein:increased expression:nasal cavity epithelium associated with Asthma associated with Rhinitis;mRNA:increased expression:nasal cavity epithelium
RGD
PMID:16739673 PMID:11591188 PMID:16689996
RGD:4889117 , RGD:4848936 , RGD:4783198
NCBI chr X:75,734,281...75,762,873
Ensembl chr X:71,663,821...71,690,121
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Egr1
early growth response 1
ISO
mRNA:increased expression:nasal polyp (human)
RGD
PMID:19158123
RGD:4890001
NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766
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Fas
Fas cell surface death receptor
ISO
protein:decreased expression:nasal polyp (human)
RGD
PMID:15283292
RGD:8662435
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Fgf1
fibroblast growth factor 1
ISO
RGD
PMID:16720444
RGD:8655569
NCBI chr18:30,937,670...31,023,786
Ensembl chr18:30,686,581...30,772,357
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:16720444
RGD:8655569
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
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Gstm1
glutathione S-transferase mu 1
ISO
associated with GSTT1 null genotype:DNA:deletion: :
RGD
PMID:16550944
RGD:4142528
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
ISO
DNA:deletion: :
RGD
PMID:19701760
RGD:4142518
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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Hgf
hepatocyte growth factor
ISO
mRNA,protein:increased expression:nasal cavity mucosa:
RGD
PMID:16982975
RGD:8548613
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:11593541
RGD:8547687
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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Ifng
interferon gamma
ISO
protein:increased expression:nasal mucosa, tissue:
RGD
PMID:9149164
RGD:8158035
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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Igf1
insulin-like growth factor 1
ISO
mRNA:increased expression:nasal cavity mucosa:
RGD
PMID:18202785
RGD:8548875
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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Il10
interleukin 10
ISO
RGD
PMID:22462754
RGD:7364835
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
ISO
associated with Rhinosinusitis;protein:increased expression:serum
RGD
PMID:23969075
RGD:8549540
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737
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Il16
interleukin 16
ISO
associated with Sinusitis
RGD
PMID:17431659
RGD:5024933
NCBI chr 1:147,026,852...147,127,177
Ensembl chr 1:137,617,944...137,718,130
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Il17a
interleukin 17A
ISO
protein:increased expression:nose, serum associated with rhinitis; protein:increased expression:nasal mucosa
RGD
PMID:20506642 PMID:21091665
RGD:4889137 , RGD:4889132
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889
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Il1a
interleukin 1 alpha
susceptibility
ISO
associated with asthma;DNA:polymorphism:exon: DNA:SNPs:exon:
RGD
PMID:12752325 PMID:17638785
RGD:4142804 , RGD:4142855
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
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Il5ra
interleukin 5 receptor subunit alpha
ISO
protein:increased expression:nasal mucus, serum
RGD
PMID:12752323
RGD:5128621
NCBI chr 4:141,186,749...141,221,348
Ensembl chr 4:139,632,066...139,668,544
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Il9
interleukin 9
ISO
associated with Bronchial Hyperreactivity
RGD
PMID:15007348
RGD:5128694
NCBI chr17:8,117,028...8,120,151
Ensembl chr17:8,111,772...8,114,895
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Itgal
integrin subunit alpha L
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:11593541
RGD:8547687
NCBI chr 1:191,348,424...191,386,228
Ensembl chr 1:181,918,183...181,955,732
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA:decreased expression:nasal cavity epithelium
RGD
PMID:19158123
RGD:4890001
NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:inferior nasal concha:
RGD
PMID:12515274
RGD:8551781
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Kitlg
KIT ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15813808
NCBI chr 7:36,782,621...36,863,796
Ensembl chr 7:34,896,053...34,977,214
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Lepr
leptin receptor
ISO
mRNA:increased expression:nose
RGD
PMID:20422702
RGD:5129163
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908
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Mbl2
mannose binding lectin 2
ISO
associated with Sinusitis; protein:increased secretion:serum (human)
RGD
PMID:19593977
RGD:4889484
NCBI chr 1:237,429,873...237,465,567
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
mRNA,protein:increased expression:nasal cavity mucosa:
RGD
PMID:16982975
RGD:8548613
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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Mmp1
matrix metallopeptidase 1
ISO
associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa
RGD
PMID:23064462
RGD:8549735
NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097
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Mmp2
matrix metallopeptidase 2
treatment
ISO
associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa
RGD
PMID:23064462 PMID:21305560
RGD:8549735 , RGD:8656001
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
susceptibility disease_progression
ISO
associated with Asthma, Aspirin-Induced; DNA:polymorphism:promoter: -1562C>T (human) associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa
RGD
PMID:19958602 PMID:23987197 PMID:23064462
RGD:5130861 , RGD:8657056 , RGD:8549735
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
RGD
PMID:15715404
RGD:7364740
NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:196,864,336...196,896,475
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Nos2
nitric oxide synthase 2
ISO
mRNA:increased expression:nasal mucosa DNA:repeats:promoter
RGD
PMID:20554417 PMID:18714530
RGD:5509597 , RGD:4891508
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
ISO
protein:increased expression:nasal mucosa (human)
RGD
PMID:15942806
RGD:7771559
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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Plaur
plasminogen activator, urokinase receptor
ISO
associated with Sinusitis
RGD
PMID:21711960
RGD:6483796
NCBI chr 1:89,181,363...89,196,308
Ensembl chr 1:80,050,324...80,068,595
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:23238704
RGD:8547666
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
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Ppp1r9b
protein phosphatase 1, regulatory subunit 9B
ISO
associated with Chronic Rhinosinusitis;mRNA:increased expression:mucosa of paranasal sinus (human)
RGD
PMID:18391768
RGD:9999402
NCBI chr10:80,434,888...80,450,919
Ensembl chr10:79,938,066...79,954,083
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
associated with Cystic Fibrosis; protein:increased expression:nasal mucosa:
RGD
PMID:16517580
RGD:5143924
NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
associated with Cystic Fibrosis; protein:increased expression:nasal mucosa:
RGD
PMID:16517580
RGD:5143924
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
associated with intrinsic asthma;DNA:polymorphism:cds:HLA-DQA1*0201 (human) DNA:polymorphism,haplotype: :HLA-DQA1*0201
RGD
PMID:10718431 PMID:16890076
RGD:5147813 , RGD:8547658
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with intrinsic asthma;DNA:polymorphism, haplotype:cds:HLA-DQB1*0202 (human) DNA:haplotype: : HLA-DQB1*0201;
RGD
PMID:10718431 PMID:16890076
RGD:5147813 , RGD:8547658
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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RT1-CE13
RT1 class I, locus CE13
susceptibility
ISO
DNA:polymorphisms:cds:HLA-B*07, HLA-B*57 (human, Turkish)
RGD
PMID:18922348
RGD:7364876
NCBI chr20:3,314,491...3,322,815
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RT1-Db1
RT1 class II, locus Db1
ISO
associated with intrinsic asthma;DNA:polymorphisms:cds:HLA-DR7 (human)
RGD
PMID:10718431
RGD:5147813
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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Sod1
superoxide dismutase 1
ISO
mRNA, protein:increased expression:middle nasal turbinate, lamella (human) associated with Rhinosinusitis;protein:decreased expression:nasal mucosa:
RGD
PMID:16540901 PMID:23921602
RGD:1581230 , RGD:8547534
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO
associated with Rhinosinusitis;mRNA,protein:decreased expression:nasal mucosa:
RGD
PMID:23921602
RGD:8547534
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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Sod3
superoxide dismutase 3
ISO
mRNA, protein:increased expression:middle nasal turbinate, lamella (human)
RGD
PMID:16540901
RGD:1581230
NCBI chr14:62,822,865...62,828,602
Ensembl chr14:58,609,958...58,615,990
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:22959364
RGD:8694314
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Tgfb1
transforming growth factor, beta 1
ISO
associated with Rhinitis mRNA:decreased expression:nasal cavity epithelium
RGD
PMID:18423831 PMID:23406597 PMID:12761968
RGD:4145277 , RGD:7394852 , RGD:7394830
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Tlr2
toll-like receptor 2
ISO
associated with Cystic Fibrosis;mRNA:increased expression:inferior nasal concha:
RGD
PMID:15836755
RGD:8552992
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
associated with Rhinosinusitis;mRNA,protein:increased expression:
RGD
PMID:23157229
RGD:7800741
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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Tlr7
toll-like receptor 7
ISO
associated with Rhinosinusitis;mRNA,protein:increased expression:
RGD
PMID:23157229
RGD:7800741
NCBI chr X:30,644,324...30,670,796
Ensembl chr X:27,027,425...27,054,754
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Tnc
tenascin C
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:12916355
RGD:4889591
NCBI chr 5:82,391,340...82,476,197
Ensembl chr 5:77,375,851...77,460,624
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Tnf
tumor necrosis factor
ISO
DNA:SNPs:promoter:
RGD
PMID:17638785
RGD:4142855
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
mRNA:decreased expression:nasal polyp (human)
RGD
PMID:19095579
RGD:5131442
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
mRNA:decreased expression:nasal polyp (human)
RGD
PMID:19095579
RGD:5131442
NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:157,070,642...157,104,206
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:Turbinates:
RGD
PMID:12761968
RGD:7394830
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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RT1-Da
RT1 class II, locus Da
susceptibility
ISO
DNA:SNPs,haplotype:introns:
RGD
PMID:22391069
RGD:13506908
NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,512,911...4,518,455
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Tbx21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Asthma and nasal polyps
ClinVar
PMID:15806396
NCBI chr10:82,578,751...82,595,253
Ensembl chr10:82,082,322...82,098,831
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Alox15
arachidonate 15-lipoxygenase
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:17959182 PMID:21558275 PMID:25741868 PMID:30643255
NCBI chr10:55,559,060...55,567,535
Ensembl chr10:55,060,412...55,068,874
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Ltc4s
leukotriene C4 synthase
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:25741868
NCBI chr10:35,060,002...35,066,466
Ensembl chr10:34,560,360...34,562,651
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Ptger2
prostaglandin E receptor 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr15:20,694,765...20,708,475
Ensembl chr15:18,217,285...18,228,714
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Tbx21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:25741868
NCBI chr10:82,578,751...82,595,253
Ensembl chr10:82,082,322...82,098,831
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Wfdc2
WAP four-disulfide core domain 2
ISO
ClinVar Annotator: match by term: BRONCHIECTASIS AND NASAL POLYPOSIS
OMIM ClinVar
PMID:38626355
NCBI chr 3:153,286,946...153,314,832
Ensembl chr 3:153,286,131...153,292,807
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19139
Pathological Conditions, Signs and Symptoms
13625
Anatomical Pathological Conditions
2868
Polyps
492
Nasal Polyps
77
Asthma and Nasal Polyps
2
Bronchiectasis and Nasal Polyposis
1
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps
0
asthma, nasal polyps, and aspirin intolerance
4
Path 2
disease
19139
disease of anatomical entity
18451
nervous system disease
14361
Neurologic Manifestations
10463
sensory system disease
7383
Otorhinolaryngologic Diseases
1799
nose disease
233
Nasal Polyps
77
Asthma and Nasal Polyps
2
Bronchiectasis and Nasal Polyposis
1
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps
0
asthma, nasal polyps, and aspirin intolerance
4