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, sub-family B member 1A
ISO
associated with Chronic Rhinosinusitis;protein:increased expression:nasal sinus (human)
RGD
PMID:22223515
RGD:8657074
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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Adrb2
adrenergic receptor, beta 2
susceptibility
ISO
DNA:polymorphism:p.R16G(human)
RGD
PMID:17621827
RGD:8548469
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
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Alox12
arachidonate 12-lipoxygenase
ISO
mRNA:decreased expression:nasal cavity epithelium
RGD
PMID:20554417
RGD:5509597
NCBI chr11:70,132,283...70,146,206
Ensembl chr11:70,132,283...70,146,179
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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 chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
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Ang
angiogenin, ribonuclease, RNase A family, 5
ISO
RGD
PMID:21711968
RGD:6892710
NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466
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Anxa1
annexin A1
ISO
RGD
PMID:20549082
RGD:7421567
NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
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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 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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Cat
catalase
ISO
protein:increased activity:nasal concha:
RGD
PMID:16287205
RGD:9479048
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Ccl1
C-C motif chemokine ligand 1
ISO
associated with Sinusitis
RGD
PMID:20598643
RGD:4891418
NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
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Ccl11
C-C motif chemokine ligand 11
ISO
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:10415058
RGD:4145448
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:sinus:
RGD
PMID:22287435
RGD:7483612
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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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 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
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Ccl24
C-C motif chemokine ligand 24
ISO
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:10415058
RGD:4145448
NCBI chr 5:135,598,789...135,601,977
Ensembl chr 5:135,598,791...135,601,903
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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 chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22287435
RGD:7483612
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr6
C-C motif chemokine receptor 6
ISO
associated with Rhinosinusitis
RGD
PMID:22287435
RGD:7483612
NCBI chr17:8,454,875...8,477,353
Ensembl chr17:8,454,875...8,475,973
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Chia1
chitinase, acidic 1
ISO
associated with Sinusitis; mRNA:increased expression:mucosa of ethmoidal sinus (human)
RGD
PMID:16871939
RGD:5024927
NCBI chr 3:106,020,698...106,039,434
Ensembl chr 3:106,020,545...106,039,436
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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 chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974
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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 chr 5:90,933,960...90,935,952
Ensembl chr 5:90,933,962...90,937,459
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Cysltr1
cysteinyl leukotriene receptor 1
ISO
protein:increased expression:nasal cavity epithelium associated with Rhinitis;mRNA:increased expression:nasal cavity epithelium associated with Asthma
RGD
PMID:16739673 PMID:16689996 PMID:11591188
RGD:4889117 , RGD:4783198 , RGD:4848936
NCBI chr X:105,617,952...105,647,329
Ensembl chr X:105,617,952...105,647,285
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Egr1
early growth response 1
ISO
mRNA:increased expression:nasal polyp (human)
RGD
PMID:19158123
RGD:4890001
NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037
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Fas
Fas cell surface death receptor
ISO
protein:decreased expression:nasal polyp (human)
RGD
PMID:15283292
RGD:8662435
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Fgf1
fibroblast growth factor 1
ISO
RGD
PMID:16720444
RGD:8655569
NCBI chr18:38,971,725...39,062,532
Ensembl chr18:38,971,726...39,062,525
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:16720444
RGD:8655569
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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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 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
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Gstt1
glutathione S-transferase, theta 1
ISO
DNA:deletion: :
RGD
PMID:19701760
RGD:4142518
NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
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H2-Aa
histocompatibility 2, class II antigen A, alpha
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 chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
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 chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
associated with intrinsic asthma;DNA:polymorphisms:cds:HLA-DR7 (human)
RGD
PMID:10718431
RGD:5147813
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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H2-M2
histocompatibility 2, M region locus 2
susceptibility
ISO
DNA:polymorphisms:cds:HLA-B*07, HLA-B*57 (human, Turkish)
RGD
PMID:18922348
RGD:7364876
NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
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H2-Q4
histocompatibility 2, Q region locus 4
susceptibility
ISO
DNA:polymorphisms:cds:HLA-B*07, HLA-B*57 (human, Turkish)
RGD
PMID:18922348
RGD:7364876
NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266
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Hgf
hepatocyte growth factor
ISO
mRNA,protein:increased expression:nasal cavity mucosa:
RGD
PMID:16982975
RGD:8548613
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:11593541
RGD:8547687
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ifng
interferon gamma
ISO
protein:increased expression:nasal mucosa, tissue:
RGD
PMID:9149164
RGD:8158035
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Igf1
insulin-like growth factor 1
ISO
mRNA:increased expression:nasal cavity mucosa:
RGD
PMID:18202785
RGD:8548875
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
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Il10
interleukin 10
ISO
RGD
PMID:22462754
RGD:7364835
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il13
interleukin 13
ISO
associated with Rhinosinusitis;protein:increased expression:serum
RGD
PMID:23969075
RGD:8549540
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il16
interleukin 16
ISO
associated with Sinusitis
RGD
PMID:17431659
RGD:5024933
NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934
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Il17a
interleukin 17A
ISO
associated with rhinitis; protein:increased expression:nasal mucosa protein:increased expression:nose, serum
RGD
PMID:21091665 PMID:20506642
RGD:4889132 , RGD:4889137
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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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 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il5ra
interleukin 5 receptor, alpha
ISO
protein:increased expression:nasal mucus, serum
RGD
PMID:12752323
RGD:5128621
NCBI chr 6:106,687,336...106,725,998
Ensembl chr 6:106,687,318...106,725,998
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Il9
interleukin 9
ISO
associated with Bronchial Hyperreactivity
RGD
PMID:15007348
RGD:5128694
NCBI chr13:56,627,090...56,630,070
Ensembl chr13:56,627,090...56,630,059
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Itgal
integrin alpha L
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:11593541
RGD:8547687
NCBI chr 7:126,895,404...126,934,309
Ensembl chr 7:126,895,432...126,934,310
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Jun
jun proto-oncogene
ISO
mRNA:decreased expression:nasal cavity epithelium
RGD
PMID:19158123
RGD:4890001
NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459
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Kdr
kinase insert domain protein receptor
ISO
protein:increased expression:inferior nasal concha:
RGD
PMID:12515274
RGD:8551781
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Kitl
kit ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15813808
NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278
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Lepr
leptin receptor
ISO
mRNA:increased expression:nose
RGD
PMID:20422702
RGD:5129163
NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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Mbl2
mannose-binding lectin (protein C) 2
ISO
associated with Sinusitis; protein:increased secretion:serum (human)
RGD
PMID:19593977
RGD:4889484
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Met
met proto-oncogene
ISO
mRNA,protein:increased expression:nasal cavity mucosa:
RGD
PMID:16982975
RGD:8548613
NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
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Mmp1a
matrix metallopeptidase 1a (interstitial collagenase)
ISO
associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa
RGD
PMID:23064462
RGD:8549735
NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857
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Mmp1b
matrix metallopeptidase 1b (interstitial collagenase)
ISO
associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa
RGD
PMID:23064462
RGD:8549735
NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
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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 chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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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 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Muc5ac
mucin 5, subtypes A and C, tracheobronchial/gastric
ISO
RGD
PMID:15715404
RGD:7364740
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
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Nos2
nitric oxide synthase 2, inducible
ISO
mRNA:increased expression:nasal mucosa DNA:repeats:promoter
RGD
PMID:20554417 PMID:18714530
RGD:5509597 , RGD:4891508
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nos3
nitric oxide synthase 3, endothelial cell
ISO
protein:increased expression:nasal mucosa (human)
RGD
PMID:15942806
RGD:7771559
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Plaur
plasminogen activator, urokinase receptor
ISO
associated with Sinusitis
RGD
PMID:21711960
RGD:6483796
NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:23238704
RGD:8547666
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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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 chr11:94,882,038...94,897,724
Ensembl chr11:94,881,861...94,897,725
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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 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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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 chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Sod1
superoxide dismutase 1, soluble
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 chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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Sod2
superoxide dismutase 2, mitochondrial
ISO
associated with Rhinosinusitis;mRNA,protein:decreased expression:nasal mucosa:
RGD
PMID:23921602
RGD:8547534
NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
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Sod3
superoxide dismutase 3, extracellular
ISO
mRNA, protein:increased expression:middle nasal turbinate, lamella (human)
RGD
PMID:16540901
RGD:1581230
NCBI chr 5:52,521,146...52,527,080
Ensembl chr 5:52,521,133...52,528,760
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:22959364
RGD:8694314
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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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 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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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 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
ISO
associated with Rhinosinusitis;mRNA,protein:increased expression:
RGD
PMID:23157229
RGD:7800741
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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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:166,086,376...166,113,570
Ensembl chr X:166,087,925...166,113,554
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Tnc
tenascin C
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:12916355
RGD:4889591
NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
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Tnf
tumor necrosis factor
ISO
DNA:SNPs:promoter:
RGD
PMID:17638785
RGD:4142855
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
ISO
mRNA:decreased expression:nasal polyp (human)
RGD
PMID:19095579
RGD:5131442
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Tnfrsf1b
tumor necrosis factor receptor superfamily, member 1b
ISO
mRNA:decreased expression:nasal polyp (human)
RGD
PMID:19095579
RGD:5131442
NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:Turbinates:
RGD
PMID:12761968
RGD:7394830
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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H2-Ea
histocompatibility 2, class II antigen E alpha
susceptibility
ISO
DNA:SNPs,haplotype:introns:
RGD
PMID:22391069
RGD:13506908
NCBI chr17:34,560,926...34,563,619
Ensembl chr17:34,560,926...34,563,618
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Tbx21
T-box 21
ISO
ClinVar Annotator: match by term: Asthma and nasal polyps
ClinVar
PMID:15806396
NCBI chr11:96,988,833...97,006,157
Ensembl chr11:96,988,897...97,006,157
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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 chr11:70,234,973...70,279,465
Ensembl chr11:70,234,978...70,242,857
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Ltc4s
leukotriene C4 synthase
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:25741868
NCBI chr11:50,127,288...50,129,378
Ensembl chr11:50,127,288...50,129,443
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Ptger2
prostaglandin E receptor 2 (subtype EP2)
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr14:45,225,568...45,241,277
Ensembl chr14:45,225,652...45,241,277
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Tbx21
T-box 21
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:25741868
NCBI chr11:96,988,833...97,006,157
Ensembl chr11:96,988,897...97,006,157
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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 2:164,404,635...164,410,430
Ensembl chr 2:164,404,333...164,410,430
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16268
Pathological Conditions, Signs and Symptoms
12656
Anatomical Pathological Conditions
2801
Polyps
499
Nasal Polyps
79
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
16268
disease of anatomical entity
15860
nervous system disease
13799
Neurologic Manifestations
10213
sensory system disease
7194
Otorhinolaryngologic Diseases
1795
nose disease
236
Nasal Polyps
79
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