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: sinusitis
Accession: DOID:0050127
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Definition: A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. (DO)
Synonyms: exact_synonym: Sinusitides
primary_id: MESH:D012852
xref: EFO:0007486 ; ICD10CM:J01 ; ICD9CM:461 ; NCI:C128411
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18391768
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
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Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:19786211
RGD:5130914
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Cfb
complement factor B
ISO
protein:decreased expression:serum
RGD
PMID:14510109
RGD:7411729
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Cftr
CF transmembrane conductance regulator
susceptibility
ISO
DNA:mutations: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16083808 PMID:11773581
RGD:4140477
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Chia
chitinase, acidic
severity
ISO
mRNA:decreased expression:sinus, epithelial cell (human)
RGD
PMID:19379605
RGD:5037227
NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
associated with Rhinitis;mRNA:increased expression:paranasal sinus
RGD
PMID:19153309
RGD:5135257
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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Il13
interleukin 13
susceptibility
ISO
associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20358028 PMID:20358028
RGD:4145767
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il1b
interleukin 1 beta
ISO
associated with Hypersensitivity
RGD
PMID:16358839
RGD:4143214
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il2
interleukin 2
ISO
RGD
PMID:11758471
RGD:8662964
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Lta
lymphotoxin alpha
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:11037831
RGD:4143260
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18391768
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression::
RGD
PMID:20392482
RGD:5130763
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
protein:increased secretion:sinus mucus
RGD
PMID:17063754
RGD:5131192
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
RGD
PMID:18396779
RGD:4892328
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Pdgfb
platelet derived growth factor subunit B
ISO
protein: increased expression: nasal cavity epithelium
RGD
PMID:21255638
RGD:6483060
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pip
prolactin induced protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18391768
NCBI chr 4:70,787,627...70,791,921
Ensembl chr 4:70,787,627...70,791,921
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Plau
plasminogen activator, urokinase
ISO
RGD
PMID:21711960
RGD:6483796
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Plaur
plasminogen activator, urokinase receptor
ISO
RGD
PMID:21711960
RGD:6483796
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Ppp1r9b
protein phosphatase 1, regulatory subunit 9B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18391768
NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083
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Scgb3a2
secretoglobin, family 3A, member 2
ISO
mRNA,protein:decreased expression:nasal mucosa
RGD
PMID:21385388
RGD:5147389
NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762
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Sftpa1
surfactant protein A1
ISO
associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa
RGD
PMID:17599561
RGD:4143506
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpd
surfactant protein D
ISO
associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa
RGD
PMID:17599561
RGD:4143506
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:nasal cavity epithelium:
RGD
PMID:14743629
RGD:8552991
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
associated with Pneumococal Infections; mRNA:increased expression:nasal cavity epithelium:
RGD
PMID:16301373 PMID:14743629
RGD:7800729 , RGD:8552991
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
ISO
Chronic Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human) Acute Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human)
RGD
PMID:17283572 PMID:18416964
RGD:5130870 , RGD:5130708
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Cd8a
CD8 subunit alpha
ameliorates
ISO
protein:decreased expression:blood, T cell (human)
RGD
PMID:24639246
RGD:124715444
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Il17a
interleukin 17A
ISO
protein:increased expression:uncinate process, nasal mucosa (human)
RGD
PMID:23613503
RGD:8696039
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
DNA:repeats:intron:IVS2+914_1000dup I/II alleles (human)
RGD
PMID:16549749
RGD:8549791
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Mbl2
mannose binding lectin 2
ISO
protein:decreased activity:serum:
RGD
PMID:23144819
RGD:8693716
NCBI chr 1:228,016,439...228,024,736
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Prg2
proteoglycan 2, pro eosinophil major basic protein
disease_progression
ISO
associated with Nasal Polyps;
RGD
PMID:24450586
RGD:13506943
NCBI chr 3:70,062,535...70,066,102
Ensembl chr 3:70,062,535...70,066,101
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Ccl7
C-C motif chemokine ligand 7
ISO
protein:increased expression:ethmoid sinus
RGD
PMID:9800627
RGD:6483785
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Anxa1
annexin A1
ISO
associated with Nasal Polyps
RGD
PMID:22279949
RGD:7421555
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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C3
complement C3
ISO
protein:increased expression:serum
RGD
PMID:19593977
RGD:4889484
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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C4a
complement C4A
disease_progression
ISO
DNA:deletion: :
RGD
PMID:16879240
RGD:5688262
NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080
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Ccl20
C-C motif chemokine ligand 20
ISO
RGD
PMID:16702571
RGD:7483585
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Hgf
hepatocyte growth factor
susceptibility
ISO
DNA:haplotype::rs38850,rs38855,rs38857(human)
RGD
PMID:20416453
RGD:8548615
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Igf1
insulin-like growth factor 1
ISO
mRNA:increased expression:nose:
RGD
PMID:20713758
RGD:8548883
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Il10
interleukin 10
ISO
protein:decreased expression:blood, mononuclear cell
RGD
PMID:23168151
RGD:7364820
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il17a
interleukin 17A
ISO
associated with Asthma;mRNA, protein:increased expression:nasal polyps (human)
RGD
PMID:19672092
RGD:4889146
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il1b
interleukin 1 beta
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:11197112
RGD:7401169
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il22ra1
interleukin 22 receptor subunit alpha 1
susceptibility
ISO
DNA:SNPs:5' utr, intron: (rs4292900, rs16829225, rs4648936) (human)
RGD
PMID:19393422
RGD:5147411
NCBI chr 5:147,961,496...147,986,296
Ensembl chr 5:147,961,349...147,986,296
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Il4
interleukin 4
treatment
ISO
associated with Asthma
RGD
PMID:12787306
RGD:7829803
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:23401274
RGD:8547880
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
treatment
IDA
RGD
PMID:23131200 PMID:19389874
RGD:7349403 , RGD:7364734
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Prkra
protein activator of interferon induced protein kinase EIF2AK2
severity
ISO
associated with Nasal Polyps
RGD
PMID:22961479
RGD:7777146
NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347
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Serpine1
serpin family E member 1
ISO
protein:increased expression:nasal mucosa (human)
RGD
PMID:21711960
RGD:6483796
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Tlr2
toll-like receptor 2
susceptibility
ISO
mRNA,protein:increased expression:paranasal sinus DNA:polymorphisms:: rs3804099,rs3804100(human)
RGD
PMID:22182736 PMID:21493395
RGD:7800733 , RGD:8552975
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:paranasal sinus
RGD
PMID:22182736
RGD:7800733
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:11197112 PMID:20147558
RGD:7401169 , RGD:7401236
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 (human)
RGD
PMID:15577839
RGD:5147654
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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