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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ABCB1
ATP binding cassette subfamily B member 1
IEP
associated with Chronic Rhinosinusitis;protein:increased expression:nasal sinus (human)
RGD
PMID:22223515
RGD:8657074
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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ADRB2
adrenoceptor beta 2
susceptibility
IAGP
DNA:polymorphism:p.R16G(human)
RGD
PMID:17621827
RGD:8548469
NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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ALOX12
arachidonate 12-lipoxygenase, 12S type
IEP
mRNA:decreased expression:nasal cavity epithelium
RGD
PMID:20554417
RGD:5509597
NCBI chr17:6,996,049...7,010,754
Ensembl chr17:6,996,049...7,010,754
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ALOX15
arachidonate 15-lipoxygenase
IEP EXP
mRNA:increased expression:nasal cavity epithelium CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30643255 PMID:20554417
RGD:5509597
NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
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ANG
angiogenin
IEP
RGD
PMID:21711968
RGD:6892710
NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
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ANXA1
annexin A1
IEP
RGD
PMID:20549082
RGD:7421567
NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,629
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BDNF
brain derived neurotrophic factor
IEP
associated with Sinusitis;protein:decreased expression:respiratory system mucosa
RGD
PMID:19958603
RGD:4891064
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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CAT
catalase
IEP
protein:increased activity:nasal concha:
RGD
PMID:16287205
RGD:9479048
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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CCL1
C-C motif chemokine ligand 1
IEP
associated with Sinusitis
RGD
PMID:20598643
RGD:4891418
NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233
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CCL11
C-C motif chemokine ligand 11
IEP
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:10415058
RGD:4145448
NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
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CCL2
C-C motif chemokine ligand 2
IEP
protein:increased expression:sinus:
RGD
PMID:22287435
RGD:7483612
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL20
C-C motif chemokine ligand 20
IEP
associated with Allergic Rhinitis associated with Rhinosinusitis
RGD
PMID:19027509 PMID:22287435
RGD:7483586 , RGD:7483612
NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
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CCL24
C-C motif chemokine ligand 24
IEP
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:10415058
RGD:4145448
NCBI chr 7:75,810,825...75,823,372
Ensembl chr 7:75,810,825...75,823,356
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CCL26
C-C motif chemokine ligand 26
IEP
associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium
RGD
PMID:21303604
RGD:5130929
NCBI chr 7:75,769,524...75,791,597
Ensembl chr 7:75,769,533...75,789,896
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CCR2
C-C motif chemokine receptor 2
IEP
RGD
PMID:22287435
RGD:7483612
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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CCR6
C-C motif chemokine receptor 6
IEP
associated with Rhinosinusitis
RGD
PMID:22287435
RGD:7483612
NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
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CHIA
chitinase acidic
IEP
associated with Sinusitis; mRNA:increased expression:mucosa of ethmoidal sinus (human)
RGD
PMID:16871939
RGD:5024927
NCBI chr 1:111,290,851...111,320,563
Ensembl chr 1:111,290,851...111,320,566
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CXCL1
C-X-C motif chemokine ligand 1
IEP
associated with Sinusitis;mRNA:increased expression:respiratory system mucosa
RGD
PMID:19178793
RGD:5134986
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
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CYSLTR1
cysteinyl leukotriene receptor 1
IEP IMP
associated with Rhinitis;mRNA:increased expression:nasal cavity epithelium protein:increased expression:nasal cavity epithelium associated with Asthma
RGD
PMID:16689996 PMID:16739673 PMID:11591188
RGD:4783198 , RGD:4889117 , RGD:4848936
NCBI chr X:78,271,468...78,327,611
Ensembl chr X:78,271,468...78,327,691
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EGR1
early growth response 1
IEP
mRNA:increased expression:nasal polyp (human)
RGD
PMID:19158123
RGD:4890001
NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
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FAS
Fas cell surface death receptor
IEP
protein:decreased expression:nasal polyp (human)
RGD
PMID:15283292
RGD:8662435
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FGF1
fibroblast growth factor 1
IEP
RGD
PMID:16720444
RGD:8655569
NCBI chr 5:142,592,178...142,698,070
Ensembl chr 5:142,592,178...142,698,070
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FGF2
fibroblast growth factor 2
IEP
RGD
PMID:16720444
RGD:8655569
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
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GSTM1
glutathione S-transferase mu 1
IAGP
associated with GSTT1 null genotype:DNA:deletion: :
RGD
PMID:16550944
RGD:4142528
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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GSTT1
glutathione S-transferase theta 1
IAGP
DNA:deletion: :
RGD
PMID:19701760
RGD:4142518
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HGF
hepatocyte growth factor
IEP
mRNA,protein:increased expression:nasal cavity mucosa:
RGD
PMID:16982975
RGD:8548613
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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HLA-B
major histocompatibility complex, class I, B
susceptibility
IAGP
DNA:polymorphisms:cds:HLA-B*07, HLA-B*57 (human, Turkish)
RGD
PMID:18922348
RGD:7364876
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
susceptibility
IAGP
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 chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
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 chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
IAGP
associated with intrinsic asthma;DNA:polymorphisms:cds:HLA-DR7 (human)
RGD
PMID:10718431
RGD:5147813
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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ICAM1
intercellular adhesion molecule 1
IEP
protein:increased expression:nasal cavity epithelium
RGD
PMID:11593541
RGD:8547687
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IFNG
interferon gamma
IEP
protein:increased expression:nasal mucosa, tissue:
RGD
PMID:9149164
RGD:8158035
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IGF1
insulin like growth factor 1
IEP
mRNA:increased expression:nasal cavity mucosa:
RGD
PMID:18202785
RGD:8548875
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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IL10
interleukin 10
IEP
RGD
PMID:22462754
RGD:7364835
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL13
interleukin 13
IEP
associated with Rhinosinusitis;protein:increased expression:serum
RGD
PMID:23969075
RGD:8549540
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL16
interleukin 16
IEP
associated with Sinusitis
RGD
PMID:17431659
RGD:5024933
NCBI chr15:81,182,712...81,314,058
Ensembl chr15:81,159,575...81,314,058
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IL17A
interleukin 17A
IEP
protein:increased expression:nose, serum associated with rhinitis; protein:increased expression:nasal mucosa
RGD
PMID:20506642 PMID:21091665
RGD:4889137 , RGD:4889132
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL1A
interleukin 1 alpha
susceptibility
IAGP
DNA:SNPs:exon: associated with asthma; DNA:polymorphism:exon:
RGD
PMID:17638785 PMID:12752325
RGD:4142855 , RGD:4142804
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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IL5RA
interleukin 5 receptor subunit alpha
IEP
protein:increased expression:nasal mucus, serum
RGD
PMID:12752323
RGD:5128621
NCBI chr 3:3,066,324...3,110,374
Ensembl chr 3:3,066,324...3,126,613
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IL9
interleukin 9
IEP
associated with Bronchial Hyperreactivity
RGD
PMID:15007348
RGD:5128694
NCBI chr 5:135,892,246...135,895,841
Ensembl chr 5:135,892,246...135,895,841
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ITGAL
integrin subunit alpha L
IEP
protein:increased expression:nasal cavity epithelium
RGD
PMID:11593541
RGD:8547687
NCBI chr16:30,472,742...30,523,185
Ensembl chr16:30,472,658...30,523,567
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
IEP
mRNA:decreased expression:nasal cavity epithelium
RGD
PMID:19158123
RGD:4890001
NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
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KDR
kinase insert domain receptor
IEP
protein:increased expression:inferior nasal concha:
RGD
PMID:12515274
RGD:8551781
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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KITLG
KIT ligand
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15813808
NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851
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LEPR
leptin receptor
IEP
mRNA:increased expression:nose
RGD
PMID:20422702
RGD:5129163
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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MBL2
mannose binding lectin 2
IEP
associated with Sinusitis; protein:increased secretion:serum (human)
RGD
PMID:19593977
RGD:4889484
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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MET
MET proto-oncogene, receptor tyrosine kinase
IEP
mRNA,protein:increased expression:nasal cavity mucosa:
RGD
PMID:16982975
RGD:8548613
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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MMP1
matrix metallopeptidase 1
IEP
associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa
RGD
PMID:23064462
RGD:8549735
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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MMP2
matrix metallopeptidase 2
treatment
IEP
associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa
RGD
PMID:23064462 PMID:21305560
RGD:8549735 , RGD:8656001
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9
matrix metallopeptidase 9
susceptibility disease_progression
IAGP IEP
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 chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
IEP
RGD
PMID:15715404
RGD:7364740
NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
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NOS2
nitric oxide synthase 2
IAGP IEP
DNA:repeats:promoter mRNA:increased expression:nasal mucosa
RGD
PMID:18714530 PMID:20554417
RGD:4891508 , RGD:5509597
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NOS3
nitric oxide synthase 3
IEP
protein:increased expression:nasal mucosa (human)
RGD
PMID:15942806
RGD:7771559
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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PLAUR
plasminogen activator, urokinase receptor
IEP
associated with Sinusitis
RGD
PMID:21711960
RGD:6483796
NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
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PON1
paraoxonase 1
IEP
protein:decreased activity:serum (human)
RGD
PMID:23238704
RGD:8547666
NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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PPP1R9B
protein phosphatase 1 regulatory subunit 9B
IEP
associated with Chronic Rhinosinusitis;mRNA:increased expression:mucosa of paranasal sinus (human)
RGD
PMID:18391768
RGD:9999402
NCBI chr17:50,133,737...50,150,677
Ensembl chr17:50,133,737...50,150,677
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PTGS1
prostaglandin-endoperoxide synthase 1
IEP
associated with Cystic Fibrosis; protein:increased expression:nasal mucosa:
RGD
PMID:16517580
RGD:5143924
NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
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PTGS2
prostaglandin-endoperoxide synthase 2
IEP
associated with Cystic Fibrosis; protein:increased expression:nasal mucosa:
RGD
PMID:16517580
RGD:5143924
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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SOD1
superoxide dismutase 1
IEP
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 chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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SOD2
superoxide dismutase 2
IEP
associated with Rhinosinusitis;mRNA,protein:decreased expression:nasal mucosa:
RGD
PMID:23921602
RGD:8547534
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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SOD3
superoxide dismutase 3
IEP
mRNA, protein:increased expression:middle nasal turbinate, lamella (human)
RGD
PMID:16540901
RGD:1581230
NCBI chr 4:24,795,573...24,800,842
Ensembl chr 4:24,789,912...24,800,842
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STAT3
signal transducer and activator of transcription 3
IDA
RGD
PMID:22959364
RGD:8694314
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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TGFB1
transforming growth factor beta 1
IEP
associated with Rhinitis mRNA:decreased expression:nasal cavity epithelium
RGD
PMID:18423831 PMID:23406597 PMID:12761968
RGD:4145277 , RGD:7394852 , RGD:7394830
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TLR2
toll like receptor 2
IEP
associated with Cystic Fibrosis;mRNA:increased expression:inferior nasal concha:
RGD
PMID:15836755
RGD:8552992
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR4
toll like receptor 4
IEP
associated with Rhinosinusitis;mRNA,protein:increased expression:
RGD
PMID:23157229
RGD:7800741
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TLR7
toll like receptor 7
IEP
associated with Rhinosinusitis;mRNA,protein:increased expression:
RGD
PMID:23157229
RGD:7800741
NCBI chr X:12,867,072...12,890,361
Ensembl chr X:12,867,072...12,890,361
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TNC
tenascin C
IEP
protein:increased expression:nasal cavity epithelium
RGD
PMID:12916355
RGD:4889591
NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
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TNF
tumor necrosis factor
IAGP
DNA:SNPs:promoter:
RGD
PMID:17638785
RGD:4142855
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF1A
TNF receptor superfamily member 1A
IEP
mRNA:decreased expression:nasal polyp (human)
RGD
PMID:19095579
RGD:5131442
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B
TNF receptor superfamily member 1B
IEP
mRNA:decreased expression:nasal polyp (human)
RGD
PMID:19095579
RGD:5131442
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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VEGFA
vascular endothelial growth factor A
IEP
protein:increased expression:Turbinates:
RGD
PMID:12761968
RGD:7394830
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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HLA-DRA
major histocompatibility complex, class II, DR alpha
susceptibility
IAGP
DNA:SNPs,haplotype:introns:
RGD
PMID:22391069
RGD:13506908
NCBI chr 6:32,439,887...32,445,046
Ensembl chr 6:32,439,878...32,445,046
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LOC109286563
TBX21 promoter region
IAGP
ClinVar Annotator: match by term: Asthma and nasal polyps
ClinVar
PMID:15806396
NCBI chr17:47,731,244...47,733,594
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TBX21
T-box transcription factor 21
IAGP
ClinVar Annotator: match by term: Asthma and nasal polyps
ClinVar
PMID:15806396
NCBI chr17:47,733,236...47,746,122
Ensembl chr17:47,733,236...47,746,122
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ALOX15
arachidonate 15-lipoxygenase
IAGP
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:17959182 PMID:21558275 PMID:25741868 PMID:30643255
NCBI chr17:4,630,919...4,641,678
Ensembl chr17:4,630,919...4,642,294
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LOC109286563
TBX21 promoter region
IAGP
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:25741868
NCBI chr17:47,731,244...47,733,594
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LOC130061064
ATAC-STARR-seq lymphoblastoid silent region 8640
IAGP
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:25741868
NCBI chr17:47,733,625...47,733,794
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LTC4S
leukotriene C4 synthase
IAGP
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:25741868
NCBI chr 5:179,793,986...179,796,647
Ensembl chr 5:179,793,980...179,796,647
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PTGER2
prostaglandin E receptor 2
susceptibility
IAGP EXP
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr14:52,314,312...52,328,598
Ensembl chr14:52,314,305...52,329,822
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TBX21
T-box transcription factor 21
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
CTD OMIM ClinVar
PMID:25741868
NCBI chr17:47,733,236...47,746,122
Ensembl chr17:47,733,236...47,746,122
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WFDC2
WAP four-disulfide core domain 2
IAGP
ClinVar Annotator: match by term: BRONCHIECTASIS AND NASAL POLYPOSIS
OMIM ClinVar
PMID:38626355
NCBI chr20:45,469,753...45,481,532
Ensembl chr20:45,469,753...45,481,532
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
145369
Pathological Conditions, Signs and Symptoms
69045
Anatomical Pathological Conditions
4957
Polyps
705
Nasal Polyps
143
Asthma and Nasal Polyps
3
Bronchiectasis and Nasal Polyposis
1
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps
0
asthma, nasal polyps, and aspirin intolerance
6
Path 2
disease
145369
disease of anatomical entity
132557
nervous system disease
70715
Neurologic Manifestations
37765
sensory system disease
26548
Otorhinolaryngologic Diseases
4206
nose disease
808
Nasal Polyps
143
Asthma and Nasal Polyps
3
Bronchiectasis and Nasal Polyposis
1
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps
0
asthma, nasal polyps, and aspirin intolerance
6