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.
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ABCB1
ATP binding cassette subfamily B member 1
severity
ISO
DNA:snp:exon:c.1236C>T (human)
RGD
PMID:24040855
RGD:8657076
NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274
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BCL2
BCL2 apoptosis regulator
ISO
mRNA, protein:increased expression:nasal mucosa (rat)
RGD
PMID:15362690
RGD:11522724
NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
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CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29028686
NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592
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CCL11
C-C motif chemokine ligand 11
treatment
ISO
RGD
PMID:23089405
RGD:7248414
NCBI chr16:27,792,699...27,796,437
Ensembl chr16:27,794,033...27,796,460
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CCL26
C-C motif chemokine ligand 26
ISO
protein:increased expression:oronasal secretion (human)
RGD
PMID:23883806
RGD:7364793
NCBI chr28:10,036,177...10,038,962
Ensembl chr28:10,036,337...10,038,875
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CD40
CD40 molecule
ISO
protein:increased expression:lymphocyte
RGD
PMID:19086656
RGD:8547782
NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
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CD40LG
CD40 ligand
ISO
protein:increased expression:lymphocyte
RGD
PMID:19086656
RGD:8547782
NCBI chr X:111,655,301...111,667,602
Ensembl chr X:111,655,397...111,666,639
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CLDN3
claudin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33441633
NCBI chr28:9,301,312...9,303,496
Ensembl chr28:9,302,446...9,303,108
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CLDN7
claudin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33441633
NCBI chr16:6,632,695...6,635,994
Ensembl chr16:6,630,412...6,635,327
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CTLA4
cytotoxic T-lymphocyte associated protein 4
treatment
ISO
RGD
PMID:10436391
RGD:11344920
NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
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FLG
filaggrin
susceptibility
ISO
associated with atopic dermatitis;DNA:SNP:cds:p.P478S (rs11584340)
RGD
PMID:21219289
RGD:628398356
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GRIA1
glutamate ionotropic receptor AMPA type subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34624383
NCBI chr23:55,944,128...56,265,748
Ensembl chr23:56,101,294...56,265,849
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GRIA2
glutamate ionotropic receptor AMPA type subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34624383
NCBI chr 7:103,808,789...103,957,947
Ensembl chr 7:103,808,797...103,953,040
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HMOX1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36127783
NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971
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HRH1
histamine receptor H1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23333628
NCBI chr22:47,187,156...47,298,761
Ensembl chr22:47,295,011...47,296,471
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IFNG
interferon gamma
treatment
ISO
associated with Asthma CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:12787306 PMID:18510219 PMID:29871060
RGD:10755770 RGD:7829803
NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
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IL10
interleukin 10
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:23253209 PMID:23883806 PMID:36127783
RGD:7364793 RGD:7364818
NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
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IL13
interleukin 13
susceptibility no_association
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human)
OMIM CTD RGD
PMID:12928861
RGD:8549516
NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869
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IL13RA2
interleukin 13 receptor subunit alpha 2
ISO
protein:increased expression:serum
RGD
PMID:21462799
RGD:8549521
NCBI chr X:102,589,947...102,628,853
Ensembl chr X:102,590,045...102,603,260
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IL17A
interleukin 17A
susceptibility
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human) DNA:snp:promoter:c.-444A>G (human)
RGD
PMID:21535180 PMID:22507625
RGD:5147409 RGD:9068429
NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
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IL18
interleukin 18
no_association severity
ISO
DNA:SNP:promoter:-140C>G (rs360721) (human) DNA:SNP:promoter:-137G>C (rs187238) (human)
RGD
PMID:22840759
RGD:8655914
NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150
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IL1B
interleukin 1 beta
ISO
protein:increased expression:nasal mucus
RGD
PMID:7750009
RGD:7401199
NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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IL2
interleukin 2
ISO
RGD
PMID:12592663
RGD:8662963
NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
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IL4
interleukin 4
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8908280 PMID:9893928 PMID:14653048 PMID:24620662 PMID:36127783
RGD:11522769 RGD:7829796 RGD:7829802 RGD:7829827
NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
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IL5
interleukin 5
treatment
ISO
RGD
PMID:23934070 PMID:24620662
RGD:11354976 RGD:11522769
NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178
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ITGB2
integrin subunit beta 2
treatment
ISO
RGD
PMID:12046991
RGD:9698435
NCBI chr 2:88,597,554...88,644,890
Ensembl chr 2:88,597,556...88,624,025
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LOC103223675
low affinity immunoglobulin gamma Fc region receptor III-A
susceptibility
ISO
DNA:polymorphism:exon:p.F158V(rs396991)(human)
RGD
PMID:18199088
RGD:5508449
NCBI chr20:2,466,492...2,475,579
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LTC4S
leukotriene C4 synthase
ISO
DNA:SNP:promoter:g.-444A>C
RGD
PMID:16730545
RGD:626168264
NCBI chr23:81,523,784...81,526,297
Ensembl chr23:81,523,775...81,526,179
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MRC1
mannose receptor C-type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36127783
NCBI chr 9:17,751,053...17,849,258
Ensembl chr 9:17,751,133...17,849,406
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MUC1
mucin 1, cell surface associated
severity
ISO
mRNA,protein:decreased expression:nasal mucosa
RGD
PMID:31425778
RGD:127345100
NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
ISO
mRNA, protein:increased expression:nasal cavity epithelium
RGD
PMID:22972875
RGD:7364746
NCBI chr 1:981,515...1,018,242
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
mRNA:increased expression:nasal mucosa (human)
RGD
PMID:23858718
RGD:8547523
NCBI chr 5:36,492,158...36,531,766
Ensembl chr 5:36,496,414...36,530,499
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OCLN
occludin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33441633
NCBI chr 4:65,581,943...65,641,516
Ensembl chr 4:65,582,460...65,644,787
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PON1
paraoxonase 1
severity
ISO
protein:decreased activity:plasma (human)
RGD
PMID:23406590
RGD:8547583
NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875
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PRKG1
protein kinase cGMP-dependent 1
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:24012634
RGD:7775060
NCBI chr 9:78,858,269...80,188,163
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16979129
NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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RORA
RAR related orphan receptor A
ameliorates
ISO
DNA:SNP:multiple:multiple
RGD
PMID:35636076
RGD:626469566
NCBI chr26:22,263,889...23,002,224
Ensembl chr26:22,812,445...22,993,021
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SCGB1A1
secretoglobin family 1A member 1
ISO
mRNA:decreased expression:nasal mucosa, lung
RGD
PMID:17882576
RGD:5144135
NCBI chr 1:11,470,091...11,474,915
Ensembl chr 1:11,470,195...11,474,149
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SCGB3A2
secretoglobin family 3A member 2
susceptibility
ISO
DNA:SNP: :rs7726552 (human)
RGD
PMID:21410962
RGD:5144225
NCBI chr23:50,327,428...50,417,518
Ensembl chr23:50,414,139...50,417,373
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SERPINE1
serpin family E member 1
ISO
mRNA:increased expression:nasal mucosa (mouse)
RGD
PMID:21339035
RGD:8547809
NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202
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TACR1
tachykinin receptor 1
ISO
mRNA:increased expression:nasal mucosa
RGD
PMID:12768696
RGD:5147835
NCBI chr14:32,080,319...32,236,556
Ensembl chr14:32,083,615...32,233,596
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TGFB1
transforming growth factor beta 1
treatment
ISO
RGD
PMID:31368266
RGD:14995445
NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365
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TLR2
toll like receptor 2
severity
ISO
DNA:polymorphism:cds:p.R753Q(human) protein:increased expression:neutrophil: mRNA:decreased expression:nasal mucosa:
RGD
PMID:18219831 PMID:18381801 PMID:22402138 PMID:22555057
RGD:7800732 RGD:7800742 RGD:8552972 RGD:8552993
NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795
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TLR4
toll like receptor 4
severity susceptibility no_association treatment
ISO
DNA:polymorphism:cds:p.D299G(human) DNA:SNP: :rs1927911(human) protein:decreased expression:nasal mucosa: DNA:polymorphism: :4216G>C(human) protein:increased expression:nasal lavage,leukocyte, bone marrow:
RGD
PMID:17069098 PMID:19763595 PMID:22402138 PMID:22555057 PMID:22577387 PMID:23639307 More...
RGD:4145354 RGD:7800732 RGD:7800736 RGD:7800738 RGD:7800740 RGD:8552993
NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515
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CYP2C19
cytochrome P450 family 2 subfamily C member 19
treatment
ISO
associated with Eosinophilic Esophagitis; DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr 9:87,981,300...88,025,007
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IL3
interleukin 3
susceptibility
ISO
DNA:SNP: :rs40401(human)
RGD
PMID:23953855
RGD:13506915
NCBI chr23:34,894,630...34,899,105
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SMCHD1
structural maintenance of chromosomes flexible hinge domain containing 1
ISO
ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia
OMIM ClinVar
PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 PMID:11321738 PMID:16353241 PMID:23143600 PMID:23432817 PMID:23852095 PMID:25741868 PMID:26440771 PMID:26467025 PMID:26842768 PMID:28067909 PMID:28067911 PMID:28492532 PMID:31243061 PMID:31312724 More...
NCBI chr18:61,921,477...62,069,187
Ensembl chr18:61,921,124...62,070,878
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KMT2D
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OMIM ClinVar
PMID:9536098 PMID:12002153 PMID:17576681 PMID:18414213 PMID:21658225 PMID:24728327 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31949313 PMID:32083401 More...
NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423
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TXNL4A
thioredoxin like 4A
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition
OMIM ClinVar
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:32735620 PMID:34713892 More...
NCBI chr18:270,392...286,243
Ensembl chr18:270,938...285,966
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KMT2D
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Choanal atresia
ClinVar
PMID:25741868 PMID:31395954
NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423
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PTPN14
protein tyrosine phosphatase non-receptor type 14
ISO
ClinVar Annotator: match by term: Lymphedema-posterior choanal atresia syndrome | ClinVar Annotator: match by term: PTPN14-related condition
OMIM ClinVar
PMID:20826270 PMID:25741868 PMID:28492532
NCBI chr25:15,023,914...15,228,680
Ensembl chr25:15,110,687...15,219,492
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EDN1
endothelin 1
ISO
protein:increased expression:inferior turbinate, nasal gland, inflammatory cell (human)
RGD
PMID:8845175
RGD:8661738
NCBI chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198
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CD8A
CD8 subunit alpha
ameliorates
ISO
protein:decreased expression:blood, T cell (human)
RGD
PMID:24639246
RGD:124715444
NCBI chr14:18,878,013...18,885,183
Ensembl chr14:18,878,622...18,883,885
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CDHR3
cadherin related family member 3
ISO
DNA:SNP:intron:rs6967330
RGD
PMID:34076350
RGD:626467892
NCBI chr21:74,875,272...74,947,964
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GLCCI1
glucocorticoid induced 1
treatment
ISO
DNA:SNP: :rs37973
RGD
PMID:30256538
RGD:628359914
NCBI chr21:50,121,781...50,243,181
Ensembl chr21:50,124,311...50,241,380
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GSDMB
gasdermin B
ISO
DNA:SNP:intron:rs7216389
RGD
PMID:34076350
RGD:626467892
NCBI chr16:66,253,562...66,266,391
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IL17A
interleukin 17A
ISO
protein:increased expression:uncinate process, nasal mucosa (human)
RGD
PMID:23613503
RGD:8696039
NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
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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 chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326
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LTC4S
leukotriene C4 synthase
ISO
mRNA:increased expression:sinonasal mucosa
RGD
PMID:15940133
RGD:626168282
NCBI chr23:81,523,784...81,526,297
Ensembl chr23:81,523,775...81,526,179
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MBL2
mannose binding lectin 2
ISO
protein:decreased activity:serum:
RGD
PMID:23144819
RGD:8693716
NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079
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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 1:15,850,181...15,854,511
Ensembl chr 1:15,850,913...15,854,517
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ALOX5
arachidonate 5-lipoxygenase
treatment
ISO
RGD
PMID:23751068
RGD:626419675
NCBI chr 9:41,085,257...41,145,760
Ensembl chr 9:41,085,361...41,145,331
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GLCCI1
glucocorticoid induced 1
treatment
ISO
DNA:SNP: :rs37973
RGD
PMID:30256538
RGD:628359914
NCBI chr21:50,121,781...50,243,181
Ensembl chr21:50,124,311...50,241,380
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IL4
interleukin 4
treatment
ISO
RGD
PMID:23751068
RGD:626419675
NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
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IL5
interleukin 5
treatment
ISO
RGD
PMID:23751068
RGD:626419675
NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178
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LTC4S
leukotriene C4 synthase
treatment
ISO
RGD
PMID:23751068
RGD:626419675
NCBI chr23:81,523,784...81,526,297
Ensembl chr23:81,523,775...81,526,179
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PTGDS
prostaglandin D2 synthase
treatment
ISO
RGD
PMID:23751068
RGD:626419675
NCBI chr12:1,210,567...1,214,631
Ensembl chr12:1,211,487...1,214,531
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PTGS2
prostaglandin-endoperoxide synthase 2
treatment
ISO
RGD
PMID:23751068
RGD:626419675
NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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SPINK5
serine peptidase inhibitor Kazal type 5
ISO
associated with aspirin-induced respiratory disease;mRNA:decreased expression:nasal cavity mucosa mRNA, protein:decreased expression:nasal cavity mucosa
RGD
PMID:18588753 PMID:22570283
RGD:628359029 RGD:628359036
NCBI chr23:50,587,698...50,667,219
Ensembl chr23:50,592,412...50,663,302
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CSTA
cystatin A
ISO
mRNA, protein:decreased expression:nasal cavity epithelium
RGD
PMID:27779422
RGD:628359037
NCBI chr22:58,519,085...58,536,163
Ensembl chr22:58,519,085...58,536,339
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GLCCI1
glucocorticoid induced 1
treatment
ISO
DNA:SNP: :rs37973
RGD
PMID:30256538
RGD:628359914
NCBI chr21:50,121,781...50,243,181
Ensembl chr21:50,124,311...50,241,380
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SPINK5
serine peptidase inhibitor Kazal type 5
ISO
protein:decreased expression:nose, oronasal secretion mRNA, protein:decreased expression:nasal cavity epithelium
RGD
PMID:27779422
RGD:628359037
NCBI chr23:50,587,698...50,667,219
Ensembl chr23:50,592,412...50,663,302
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CLU
clusterin
ISO
RGD
PMID:19903339
RGD:9014708
NCBI chr 8:25,704,441...25,721,789
Ensembl chr 8:25,703,257...25,721,789
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SOX2
SRY-box transcription factor 2
ISO
DNA:amplification
RGD
PMID:23544055
RGD:8661654
NCBI chr15:7,673,581...7,676,812
Ensembl chr15:7,674,867...7,675,826
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TP53
tumor protein p53
ISO
RGD
PMID:19950227
RGD:8547762
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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ABCB1
ATP binding cassette subfamily B member 1
severity
ISO
Nasal Type;protein:increased expression:nasal cavity (human)
RGD
PMID:18756548
RGD:8657087
NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274
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CD274
CD274 molecule
disease_progression
ISO
associated with Epstein-Barr Virus Infections
RGD
PMID:27595782
RGD:41412182
NCBI chr12:74,038,844...74,060,662
Ensembl chr12:74,041,767...74,056,806
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CFLAR
CASP8 and FADD like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15924153
NCBI chr10:86,768,252...86,819,963
Ensembl chr10:86,782,240...86,816,652
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GPX3
glutathione peroxidase 3
treatment
ISO
associated with ethmoid sinus cancer and Neoplasm Metastasis
RGD
PMID:29496492
RGD:151708712
NCBI chr23:53,576,950...53,585,321
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JAK3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22705984 PMID:23689514
NCBI chr 6:16,301,760...16,323,343
Ensembl chr 6:16,300,525...16,322,859
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LOC103243413
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr16:63,997,486...64,070,392
Ensembl chr16:63,997,441...64,070,445
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PRDM1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:24438193
RGD:150530467
NCBI chr13:67,695,436...67,719,487
Ensembl chr13:67,695,309...67,718,931
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STAT3
signal transducer and activator of transcription 3
ISO
protein:increased expression:nasal cavity (human)
RGD
PMID:17225522
RGD:153298933
NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:serum
RGD
PMID:19725899
RGD:5686851
NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391
G
ALB
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19389874
NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407
G
ALOX5AP
arachidonate 5-lipoxygenase activating protein
ISO
protein:increased expression:nasal turbinate
RGD
PMID:19364335
RGD:5147461
NCBI chr 3:9,618,030...9,642,990
Ensembl chr 3:9,617,949...9,643,184
G
CAT
catalase
ISO
protein:decreased expression:plasma
RGD
PMID:20493834
RGD:5130771
NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592
G
CCR2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:Nasal Mucosa
RGD
PMID:17982926
RGD:4145109
NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728
G
CCR5
C-C motif chemokine receptor 5
ISO
mRNA:increased expression:nasal mucosa (human)
RGD
PMID:17982926
RGD:4145109
NCBI chr22:7,803,794...7,818,112
G
CD40
CD40 molecule
ISO
RGD
PMID:20226305
RGD:5132269
NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
G
CD86
CD86 molecule
ISO
protein:increased expression:nasal mucosa, dendritic cell (human)
RGD
PMID:17088138
RGD:4892343
NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366
G
CHIA
chitinase acidic
ISO
mRNA, protein:increased expression:turbinate, mucosa (human)
RGD
PMID:20422678
RGD:5037226
NCBI chr20:22,273,628...22,282,097
G
EGR1
early growth response 1
ISO
DNA:snp:5' utr:g.-4071A>G rs7729723 (human)
RGD
PMID:19833116
RGD:5131984
NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374
G
F2RL1
F2R like trypsin receptor 1
ISO
RGD
PMID:17727088
RGD:4892590
NCBI chr 4:71,095,446...71,109,832
Ensembl chr 4:71,095,500...71,110,005
G
GSTP1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:17181111
RGD:4142523
NCBI chr 1:6,676,897...6,679,936
G
HMOX1
heme oxygenase 1
ISO
mRNA, protein:increased expression: nasal mucosa
RGD
PMID:16540907
RGD:4145406
NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971
G
ICAM1
intercellular adhesion molecule 1
ISO
protein:increased secretion:nasopharynx (human) protein:increased expression:lung, endothelium (mouse)
RGD
PMID:19047814 PMID:19968652
RGD:4145464 RGD:4145520
NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263
G
IFNGR1
interferon gamma receptor 1
ISO
DNA: SNP: Leu467Pro
RGD
PMID:12851715
RGD:6480431
NCBI chr13:36,203,038...36,224,039
Ensembl chr13:36,203,004...36,222,542
G
IL13
interleukin 13
ISO
mRNA, protein:increased expression:nasal mucosa
RGD
PMID:8520776
RGD:4782826
NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869
G
IL17A
interleukin 17A
severity
ISO
protein:increased expression:serum
RGD
PMID:19226302
RGD:4889151
NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
G
IL18
interleukin 18
susceptibility
ISO
DNA:SNP:promoter:c. -607A>C (rs1946518) (human)
RGD
PMID:16406079
RGD:4889924
NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150
G
IL1A
interleukin 1 alpha
ISO
DNA:polymorphism:exon:c.4845G>T (human)
RGD
PMID:14533660
RGD:4142859
NCBI chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611
G
IL1R1
interleukin 1 receptor type 1
ISO
RGD
PMID:18637763
RGD:5037238
NCBI chr14:5,781,486...5,852,872
Ensembl chr14:5,781,479...5,855,942
G
IL2
interleukin 2
ISO
protein:decreased expression:serum:
RGD
PMID:17608155
RGD:8662959
NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
G
IL4
interleukin 4
treatment
ISO
protein:increased expression:serum
RGD
PMID:9237816 PMID:15329007 PMID:21171297
RGD:5128559 RGD:7829804 RGD:7829817
NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
G
IL5
interleukin 5
ISO
protein: increased levels: sputum
RGD
PMID:22186238
RGD:5687140
NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178
G
LOC103242710
C-C motif chemokine 2
ISO
protein:increased expression:nasal turbinate, mucosa (human)
RGD
PMID:9865755
RGD:8548839
NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
G
MMP2
matrix metallopeptidase 2
ISO
protein:increased expression:nasal mucosa:
RGD
PMID:19786210
RGD:5130872
NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
G
MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:nasal mucosa:
RGD
PMID:19786210
RGD:5130872
NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
G
NOS2
nitric oxide synthase 2
ISO
protein:increased expression:nasal mucosa
RGD
PMID:14587983
RGD:4892078
NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257
G
NOS3
nitric oxide synthase 3
ISO
DNA:snp:promoter:g.-786T>C (human)
RGD
PMID:18086269
RGD:4892054
NCBI chr21:119,174,829...119,196,840
G
NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
protein:altered expression:nasal mucosa
RGD
PMID:20185258
RGD:4892593
NCBI chr23:45,904,926...46,031,804
Ensembl chr23:45,904,873...46,031,125
G
PPARG
peroxisome proliferator activated receptor gamma
ISO
mRNA, protein:increased expression:nasal mucosa (human)
RGD
PMID:17116814
RGD:8552811
NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418
G
PTGS1
prostaglandin-endoperoxide synthase 1
ISO
protein:increased expression:respiratory system epithelium
RGD
PMID:19364335
RGD:5147461
NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315
G
TBXA2R
thromboxane A2 receptor
treatment
ISO
RGD
PMID:15247523
RGD:11059532
NCBI chr 6:3,354,358...3,365,779
Ensembl chr 6:3,355,314...3,359,761
G
ADAM33
ADAM metallopeptidase domain 33
susceptibility
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:15298558 PMID:18778489
RGD:4145378 RGD:4145383
NCBI chr 2:34,352,514...34,366,694
Ensembl chr 2:34,353,505...34,366,559
G
ANG
angiogenin
ISO
protein:increased expression:sputum
RGD
PMID:19178538
RGD:6892723
NCBI chr29:21,215,985...21,226,927
G
BDKRB1
bradykinin receptor B1
ISO
RGD
PMID:12165532
RGD:5129220
NCBI chr24:74,136,464...74,146,668
Ensembl chr24:74,145,531...74,146,592
G
BDKRB2
bradykinin receptor B2
ISO
RGD
PMID:1890650 PMID:11149999
RGD:4891033 RGD:4891044
NCBI chr24:74,084,907...74,125,604
Ensembl chr24:74,118,210...74,122,909
G
BDNF
brain derived neurotrophic factor
susceptibility
ISO
DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) mRNA:increased expression:nasal cavity epithelium
RGD
PMID:20464992 PMID:21723144
RGD:4891116 RGD:8655967
NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336
G
C3
complement C3
ISO
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:17345707 PMID:20109314
RGD:5129524 RGD:5129539
NCBI chr 6:6,250,422...6,289,264
G
C3AR1
complement C3a receptor 1
severity
ISO
protein:increased expression:nasal cavity
RGD
PMID:18538384
RGD:5129559
NCBI chr11:8,128,192...8,135,517
Ensembl chr11:8,128,620...8,130,062
G
C5AR1
complement C5a receptor 1
ISO
RGD
PMID:18538384
RGD:5129559
NCBI chr 6:40,633,540...40,651,839
Ensembl chr 6:40,633,448...40,652,845
G
CAT
catalase
treatment
ISO
protein:increased activity:blood,nasal cavity mucosa:
RGD
PMID:21541033
RGD:9479054
NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592
G
CCL1
C-C motif chemokine ligand 1
ISO
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:17982926
RGD:4145109
NCBI chr16:27,868,925...27,890,143
G
CCL11
C-C motif chemokine ligand 11
severity
ISO
associated with Sinusitis;protein:increased expression:paranasal sinus mRNA:increased expression:lung, nose protein:increased expression:nasal mucus
RGD
PMID:16120080 PMID:16765544 PMID:17999785
RGD:4145411 RGD:4145455 RGD:4145462
NCBI chr16:27,792,699...27,796,437
Ensembl chr16:27,794,033...27,796,460
G
CCL17
C-C motif chemokine ligand 17
ISO
protein:increased expression:blood, mononuclear cell
RGD
PMID:17517104
RGD:4145498
NCBI chr 5:43,343,525...43,350,096
Ensembl chr 5:43,346,329...43,348,599
G
CCL19
C-C motif chemokine ligand 19
ISO
RGD
PMID:17947663
RGD:5130909
NCBI chr12:45,928,212...45,930,897
Ensembl chr12:45,929,071...45,930,904
G
CCL22
C-C motif chemokine ligand 22
ISO
protein:increased expression:blood, mononuclear cell
RGD
PMID:17517104
RGD:4145498
NCBI chr 5:43,297,206...43,305,662
Ensembl chr 5:43,297,897...43,305,642
G
CCL24
C-C motif chemokine ligand 24
ISO
mRNA:increased expression:nasal cavity epithelium DNA:SNPs: :179T>C, 275C>T (human)
RGD
PMID:15580493 PMID:17982926
RGD:4145109 RGD:4891493
NCBI chr28:10,067,482...10,069,992
Ensembl chr28:10,066,664...10,069,695
G
CCL26
C-C motif chemokine ligand 26
ISO
DNA:polymorphism: :2497T>G (human) associated with Eosinophilia;protein:increased expression:oronasal secretion (human)
RGD
PMID:15580493 PMID:24989688
RGD:11531119 RGD:4891493
NCBI chr28:10,036,177...10,038,962
Ensembl chr28:10,036,337...10,038,875
G
CCL8
C-C motif chemokine ligand 8
ISO
RGD
PMID:20625511
RGD:5131089
NCBI chr16:27,821,149...27,823,919
Ensembl chr16:27,821,970...27,823,528
G
CCR2
C-C motif chemokine receptor 2
susceptibility
ISO
Rhinitis, Allergic, Seasonal; DNA:SNP:cds:p.V64I (human)
RGD
PMID:17135764
RGD:4145111
NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728
G
CCR3
C-C motif chemokine receptor 3
ISO
mRNA:increased expression:nose protein:increased expression:blood, T cell DNA:SNP:exon:51T>C (human)
RGD
PMID:17135764 PMID:17156343 PMID:20696593
RGD:4145111 RGD:4145454 RGD:4145645
NCBI chr22:7,648,410...7,698,523
Ensembl chr22:7,697,068...7,698,135
G
CD14
CD14 molecule
resistance susceptibility
ISO
DNA:polymorphism:promoter:c. -159c>T (human)
RGD
PMID:16950285 PMID:20109306
RGD:4144795 RGD:4144810
NCBI chr23:43,264,917...43,266,825
Ensembl chr23:43,264,336...43,266,993
G
CD28
CD28 molecule
ISO
RGD
PMID:21356099
RGD:5131612
NCBI chr10:89,471,710...89,505,152
Ensembl chr10:89,471,730...89,500,387
G
CD80
CD80 molecule
ISO
RGD
PMID:21108691
RGD:5132622
NCBI chr22:61,258,281...61,294,772
G
CDC42
cell division cycle 42
ISO
mRNA:increased expression:nasal turbinate
RGD
PMID:19432938
RGD:5688273
NCBI chr20:110,568,004...110,608,318
Ensembl chr20:110,569,352...110,582,562
G
CFTR
CF transmembrane conductance regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16083808
NCBI chr21:86,154,313...86,332,436
G
CRHR1
corticotropin releasing hormone receptor 1
ISO
mRNA, protein:increased expression:nasal cavity epithelium
RGD
PMID:17597629
RGD:5130940
NCBI chr16:60,070,156...60,120,857
Ensembl chr16:60,070,066...60,120,712
G
CRHR2
corticotropin releasing hormone receptor 2
ISO
mRNA, protein:increased expression:nasal cavity epithelium
RGD
PMID:17597629
RGD:5130940
NCBI chr21:27,703,637...27,738,873
Ensembl chr21:27,708,113...27,739,116
G
CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
protein:increased expression:T cell
RGD
PMID:17625281
RGD:4891512
NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
G
CX3CL1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:plasma
RGD
PMID:14657873
RGD:4891906
NCBI chr 5:43,310,711...43,323,533
Ensembl chr 5:43,310,753...43,323,529
G
CXCL6
C-X-C motif chemokine ligand 6
ISO
protein:increased expression:nasal mucus
RGD
PMID:20659080
RGD:4892030
NCBI chr 7:22,291,949...22,294,191
Ensembl chr 7:22,292,045...22,294,207
G
CYP2D6
cytochrome P450 family 2 subfamily D member 6
ISO
DNA:SNP:3' utr:*1934G>A (human)
RGD
PMID:20088379
RGD:5143945
NCBI chr19:24,667,207...24,672,580
Ensembl chr19:24,667,282...24,671,513
G
CYSLTR1
cysteinyl leukotriene receptor 1
ISO
associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium
RGD
PMID:15379985 PMID:16689996 PMID:17627772 PMID:18946234
RGD:4781451 RGD:4783198 RGD:4847512 RGD:4888516
NCBI chr X:67,218,777...67,300,655
Ensembl chr X:67,220,048...67,221,061 Ensembl chr X:67,220,048...67,221,061
G
CYSLTR2
cysteinyl leukotriene receptor 2
ISO
associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium
RGD
PMID:16689996
RGD:4783198
NCBI chr 3:26,578,248...26,624,364
G
FCER1A
Fc epsilon receptor Ia
ISO
RGD
PMID:20650300
RGD:5128714
NCBI chr20:4,635,316...4,640,787
Ensembl chr20:4,635,328...4,640,590
G
FIS1
fission, mitochondrial 1
ISO
mRNA, protein:increased expression:nasal cavity mucosa (rat)
RGD
PMID:28146064
RGD:13204839
NCBI chr28:11,934,848...11,940,230
Ensembl chr28:11,934,821...11,941,901
G
HDC
histidine decarboxylase
ISO
DNA:SNP: :p.E644D (rs2073440) (human)
RGD
PMID:15054596 PMID:20608921
RGD:5128884 RGD:5143921
NCBI chr26:33,051,048...33,074,872
Ensembl chr26:33,051,966...33,074,563
G
HNMT
histamine N-methyltransferase
no_association
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17651147
RGD:5128885
NCBI chr10:22,188,151...22,238,665
Ensembl chr10:22,188,110...22,238,671
G
HRH1
histamine receptor H1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12167471
NCBI chr22:47,187,156...47,298,761
Ensembl chr22:47,295,011...47,296,471
G
IL13
interleukin 13
disease_progression susceptibility
ISO
mRNA:increased expression:nose DNA:polymorphism: :rs1800925 (human) associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human)
RGD
PMID:16120094 PMID:17088137 PMID:20358028 PMID:20484924 PMID:20696593
RGD:4145454 RGD:4145534 RGD:4145767 RGD:4159171 RGD:4206706
NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869
G
IL13RA2
interleukin 13 receptor subunit alpha 2
ISO
RGD
PMID:17088137
RGD:4159171
NCBI chr X:102,589,947...102,628,853
Ensembl chr X:102,590,045...102,603,260
G
IL15
interleukin 15
ISO
RGD
PMID:16750998
RGD:5000756
NCBI chr 7:88,548,773...88,644,977
Ensembl chr 7:88,548,671...88,645,488
G
IL16
interleukin 16
ISO
protein:increased expression:serum protein:increased expression:nasal cavity epithelium, serum
RGD
PMID:18254318 PMID:19295235
RGD:5024931 RGD:5024932
NCBI chr26:2,080,985...2,208,764
Ensembl chr26:2,077,228...2,208,431
G
IL17A
interleukin 17A
ISO
protein:increased expression:nasal mucosa
RGD
PMID:19927541 PMID:20506642
RGD:4889137 RGD:4889144
NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
G
IL18
interleukin 18
disease_progression
ISO
rhinitis allergic, seasonal; protein:increased expression:plasma protein:increased expression:serum protein:increased expression:nasal lavage fluid, bronchoalveolar lavage fluid
RGD
PMID:15934281 PMID:17305282 PMID:17323858
RGD:4889916 RGD:4889917 RGD:4889927
NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150
G
IL1B
interleukin 1 beta
susceptibility
ISO
associated with Hypersensitivity;protein:increased expression:nasal mucus mRNA:increased expression:nasal cavity epithelium associated with Hypersensitivity;DNA:polymorphism: :-511C>T (human)
RGD
PMID:10224452 PMID:14533660 PMID:20490816
RGD:4142821 RGD:4142859 RGD:4143227
NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
G
IL1RL1
interleukin 1 receptor like 1
severity
ISO
associated with Sinusitis;DNA:SNPs: :multiple (human)
RGD
PMID:19671251
RGD:5144228
NCBI chr14:5,966,551...6,020,391
Ensembl chr14:6,005,061...6,020,265
G
IL1RN
interleukin 1 receptor antagonist
susceptibility
ISO
associated with Hypersensitivity associated with Hypersensitivity;DNA:repeat:intron (human)
RGD
PMID:10224452 PMID:14533660 PMID:15178892
RGD:4142859 RGD:4143215 RGD:4143227
NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326
G
IL2
interleukin 2
susceptibility
ISO
DNA:SNP:promoter:rs2069762(human)
RGD
PMID:16333313
RGD:8663473
NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
G
IL21
interleukin 21
ISO
RGD
PMID:17982108
RGD:5147397
NCBI chr 7:69,859,793...69,872,237
Ensembl chr 7:69,863,535...69,872,025
G
IL22
interleukin 22
severity
ISO
mRNA:increased expression:blood, mononuclear cell
RGD
PMID:21535180
RGD:5147409
NCBI chr11:63,881,743...63,887,695
Ensembl chr11:63,882,093...63,886,761
G
IL23R
interleukin 23 receptor
susceptibility
ISO
DNA:SNP,haplotype: :rs7517847(human)
RGD
PMID:23696856
RGD:8549605
NCBI chr20:65,853,379...65,946,000
Ensembl chr20:65,854,349...65,938,024
G
IL27RA
interleukin 27 receptor subunit alpha
ISO
RGD
PMID:19354069
RGD:5128480
NCBI chr 6:12,679,270...12,699,254
Ensembl chr 6:12,686,838...12,701,867
G
IL4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum mRNA:increased expression:nasal cavity epithelium
CTD RGD
PMID:18826099 PMID:19672097 PMID:21208219
RGD:2317285 RGD:5128558
NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
G
IL4R
interleukin 4 receptor
ISO
DNA:polymorphism: :c.1432T>C (human)
RGD
PMID:15564773
RGD:4890394
NCBI chr 5:25,019,638...25,069,732
Ensembl chr 5:25,046,701...25,070,015
G
IL5
interleukin 5
ISO
RGD
PMID:11884474
RGD:5128622
NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178
G
IL9
interleukin 9
ISO
RGD
PMID:20525149
RGD:5128687
NCBI chr23:38,641,228...38,645,810
Ensembl chr23:38,641,741...38,645,276
G
LEP
leptin
ISO
RGD
PMID:19860581
RGD:5128850
NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220
G
LOC103242711
C-C motif chemokine 7
ISO
RGD
PMID:17982926
RGD:4145109
NCBI chr16:27,777,795...27,780,413
G
LOC103248365
caspase-1
ISO
protein:increased expression:serum
RGD
PMID:12396474 PMID:20974310
RGD:5130187 RGD:5130192
NCBI chr 1:96,389,697...96,400,610
Ensembl chr 1:96,389,657...96,400,849
G
MBL2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:18831943
RGD:8693717
NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079
G
MFN1
mitofusin 1
ISO
mRNA, protein:increased expression:nasal cavity mucosa (rat)
RGD
PMID:28146064
RGD:13204839
NCBI chr15:10,050,616...10,093,118
Ensembl chr15:10,047,599...10,093,126
G
MHC-DQA1
major histocompatibility complex, class II, DQ alpha 1
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQA1*0201, HLA-DQA1*0302 (human)
RGD
PMID:14990915
RGD:5147798
NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871
G
MIF
macrophage migration inhibitory factor
severity
ISO
protein:increased expression:serum, nasal mucosa
RGD
PMID:15053202 PMID:15922619
RGD:4891045 RGD:4891056
NCBI chr19:7,000,837...7,001,700
Ensembl chr19:7,000,793...7,001,757
G
MS4A2
membrane spanning 4-domains A2
ISO
RGD
PMID:15480314
RGD:5131152
NCBI chr 1:13,657,842...13,666,314
Ensembl chr 1:13,654,696...13,665,925
G
MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
ISO
mRNA:increased expression:nose
RGD
PMID:15715404 PMID:20696593
RGD:4145454 RGD:7364740
NCBI chr 1:981,515...1,018,242
G
NGF
nerve growth factor
ISO
associated with Sinusitis;protein:increased expression:respiratory system mucosa protein:increased expression:respiratory system fluid/secretion
RGD
PMID:10224365 PMID:19958603
RGD:4891064 RGD:4891115
NCBI chr20:18,361,795...18,413,987
Ensembl chr20:18,413,108...18,413,833
G
NGFR
nerve growth factor receptor
ISO
protein:increased expression:blood, eosinophil
RGD
PMID:18647313
RGD:5144116
NCBI chr16:69,894,000...69,914,209
Ensembl chr16:69,894,139...69,912,189
G
NOD1
nucleotide binding oligomerization domain containing 1
ISO
mRNA:decreased expression:nose
RGD
PMID:20384614
RGD:5131446
NCBI chr21:27,907,628...27,957,621
Ensembl chr21:27,926,710...27,957,619
G
NOD2
nucleotide binding oligomerization domain containing 2
susceptibility
ISO
DNA:polymorphisms:cds:2104C>T,2722G>C (human)
RGD
PMID:12704363
RGD:5131484
NCBI chr 5:36,492,158...36,531,766
Ensembl chr 5:36,496,414...36,530,499
G
NOS2
nitric oxide synthase 2
ISO
protein:increased expression:nasal mucosa
RGD
PMID:18254476
RGD:4891910
NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257
G
NPY
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12746121
NCBI chr21:34,068,533...34,076,205
Ensembl chr21:34,068,530...34,075,127
G
NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
protein:increased expression:eosinophil
RGD
PMID:18647313
RGD:5144116
NCBI chr20:6,987,903...7,027,381
Ensembl chr20:6,987,905...7,008,670
G
OPA1
OPA1 mitochondrial dynamin like GTPase
ISO
mRNA, protein:increased expression:nasal cavity mucosa (rat)
RGD
PMID:28146064
RGD:13204839
NCBI chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102
G
PLAU
plasminogen activator, urokinase
ISO
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:21339035
RGD:8547809
NCBI chr 9:57,452,904...57,459,345
Ensembl chr 9:57,452,761...57,459,286
G
PTGDR2
prostaglandin D2 receptor 2
ISO
RGD
PMID:19230460 PMID:19608418
RGD:5135017 RGD:5135021
NCBI chr 1:12,989,750...12,994,979
Ensembl chr 1:12,992,188...12,993,378
G
SCGB3A2
secretoglobin family 3A member 2
ISO
mRNA,protein:decreased expression:nasal mucosa protein:increased expression:sputum
RGD
PMID:17218572 PMID:21385388
RGD:5144232 RGD:5147389
NCBI chr23:50,327,428...50,417,518
Ensembl chr23:50,414,139...50,417,373
G
SERPINE1
serpin family E member 1
susceptibility
ISO
DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:19063817
RGD:4144832
NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202
G
SFTPD
surfactant protein D
susceptibility
ISO
associated with Hypersensitivity;DNA:polymorphism: :p.M11T (human)
RGD
PMID:19493231
RGD:4143494
NCBI chr 9:51,809,241...51,820,974
Ensembl chr 9:51,811,052...51,820,650
G
TAP1
transporter 1, ATP binding cassette subfamily B member
no_association susceptibility
ISO
DNA:SNPs: :
RGD
PMID:12018331 PMID:17982230
RGD:6482262 RGD:6482274
NCBI chr17:39,252,000...39,260,195
G
TBXA2R
thromboxane A2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12167471
NCBI chr 6:3,354,358...3,365,779
Ensembl chr 6:3,355,314...3,359,761
G
TGFB1
transforming growth factor beta 1
ISO
associated with Sinusitis
RGD
PMID:18423831
RGD:4145277
NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365
G
TLR2
toll like receptor 2
no_association susceptibility
ISO
associated with Sinusitis;DNA:SNPs: :multiple (human) mRNA:decreased expression:nasal mucosa: DNA:SNPs: :597T>C, 1350T>C (human)
RGD
PMID:18219831 PMID:19128592 PMID:19763595
RGD:4145354 RGD:4145356 RGD:7800742
NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795
G
TLR6
toll like receptor 6
ISO
associated with Asthma;DNA:SNP: :rs2381289 (human)
RGD
PMID:20815312
RGD:4145352
NCBI chr27:11,439,288...11,461,580
Ensembl chr27:11,459,181...11,461,571
G
TNF
tumor necrosis factor
ISO
mRNA:increased expression:nose
RGD
PMID:15120189 PMID:20696593
RGD:4143470 RGD:4145454
G
VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:sputum
RGD
PMID:19178538
RGD:6892723
NCBI chr17:28,377,959...28,394,508
G
VIP
vasoactive intestinal peptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12746121 PMID:14680090
NCBI chr13:80,217,602...80,228,320
Ensembl chr13:80,218,572...80,228,278
G
ANXA1
annexin A1
ISO
associated with Nasal Polyps
RGD
PMID:22279949
RGD:7421555
NCBI chr12:84,207,818...84,226,438
Ensembl chr12:84,207,820...84,226,562
G
C3
complement C3
ISO
protein:increased expression:serum
RGD
PMID:19593977
RGD:4889484
NCBI chr 6:6,250,422...6,289,264
G
CCL20
C-C motif chemokine ligand 20
ISO
RGD
PMID:16702571
RGD:7483585
NCBI chr10:113,815,099...113,836,562
Ensembl chr10:113,832,573...113,835,736
G
HGF
hepatocyte growth factor
susceptibility
ISO
DNA:haplotype::rs38850,rs38855,rs38857(human)
RGD
PMID:20416453
RGD:8548615
NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504
G
IGF1
insulin like growth factor 1
ISO
mRNA:increased expression:nose:
RGD
PMID:20713758
RGD:8548883
NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308
G
IL10
interleukin 10
ISO
protein:decreased expression:blood, mononuclear cell
RGD
PMID:23168151
RGD:7364820
NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
G
IL17A
interleukin 17A
ISO
associated with Asthma;mRNA, protein:increased expression:nasal polyps (human)
RGD
PMID:19672092
RGD:4889146
NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785
G
IL1B
interleukin 1 beta
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:11197112
RGD:7401169
NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
G
IL22RA1
interleukin 22 receptor subunit alpha 1
susceptibility
ISO
DNA:SNPs:5' utr, intron: (rs4292900, rs16829225, rs4648936) (human)
RGD
PMID:19393422
RGD:5147411
NCBI chr20:108,545,400...108,568,272
Ensembl chr20:108,550,271...108,568,371
G
IL4
interleukin 4
treatment
ISO
associated with Asthma
RGD
PMID:12787306
RGD:7829803
NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
G
MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:23401274
RGD:8547880
NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
G
MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
treatment
ISO
RGD
PMID:19389874 PMID:23131200
RGD:7349403 RGD:7364734
NCBI chr 1:981,515...1,018,242
G
PRKRA
protein activator of interferon induced protein kinase EIF2AK2
severity
ISO
associated with Nasal Polyps
RGD
PMID:22961479
RGD:7777146
NCBI chr10:63,982,784...64,003,919
G
SERPINE1
serpin family E member 1
ISO
protein:increased expression:nasal mucosa (human)
RGD
PMID:21711960
RGD:6483796
NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202
G
TLR2
toll like receptor 2
susceptibility
ISO
DNA:polymorphisms:: rs3804099,rs3804100(human) mRNA,protein:increased expression:paranasal sinus
RGD
PMID:21493395 PMID:22182736
RGD:7800733 RGD:8552975
NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795
G
TLR4
toll like receptor 4
ISO
mRNA,protein:increased expression:paranasal sinus
RGD
PMID:22182736
RGD:7800733
NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515
G
TNF
tumor necrosis factor
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:11197112 PMID:20147558
RGD:7401169 RGD:7401236
G
ALOX5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:16677242
RGD:5147463
NCBI chr 9:41,085,257...41,145,760
Ensembl chr 9:41,085,361...41,145,331
G
APOA4
apolipoprotein A4
resistance
ISO
protein:increased expression:blood serum (human)
RGD
PMID:20810159
RGD:5685642
NCBI chr 1:108,186,627...108,190,508
Ensembl chr 1:108,186,921...108,189,698
G
BDNF
brain derived neurotrophic factor
severity
ISO
protein:increased expression:blood, nasal cavity epithelium
RGD
PMID:18266897
RGD:5144117
NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336
G
CCL5
C-C motif chemokine ligand 5
ISO
protein:increased expression:inferior turbinate, epithelium (human)
RGD
PMID:20459697
RGD:4891379
NCBI chr16:29,351,214...29,361,317
G
CMA1
chymase 1
ISO
protein:increased expression:nasal mucosa, mast cell (human)
RGD
PMID:11549546
RGD:5128839
NCBI chr24:1,471,767...1,475,062
Ensembl chr24:1,471,725...1,474,692
G
FGA
fibrinogen alpha chain
ISO
RGD
PMID:21887273
RGD:5688767
NCBI chr 7:101,127,554...101,134,881
Ensembl chr 7:101,125,791...101,134,405
G
GLCCI1
glucocorticoid induced 1
treatment
ISO
DNA:SNP: :rs37973
RGD
PMID:29981236
RGD:628359913
NCBI chr21:50,121,781...50,243,181
Ensembl chr21:50,124,311...50,241,380
G
GSTO1
glutathione S-transferase omega 1
ISO
protein:decreased expression;T lymphocyte:
RGD
PMID:21410266
RGD:5491008
NCBI chr 9:97,305,094...97,317,892
G
ICAM1
intercellular adhesion molecule 1
ISO
protein:increased secretion:nasopharynx, secretion (human)
RGD
PMID:20128420
RGD:4145459
NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263
G
IFNGR1
interferon gamma receptor 1
ISO
DNA: SNP: Leu467Pro
RGD
PMID:12851715
RGD:6480431
NCBI chr13:36,203,038...36,224,039
Ensembl chr13:36,203,004...36,222,542
G
IL10
interleukin 10
treatment
ISO
RGD
PMID:19505388
RGD:7365025
NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
G
IL18
interleukin 18
no_association susceptibility
ISO
DNA:SNPs:promoters:multiple DNA:SNPs:promoters, exon:multiple
RGD
PMID:12532106
RGD:8655871
NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150
G
IL4
interleukin 4
ISO
protein:increased expression:serum mRNA:increased expression:nose:
RGD
PMID:7551298 PMID:9237816
RGD:7829817 RGD:8662960
NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
G
KDR
kinase insert domain receptor
ISO
protein:increased expression:nasal cavity of mucosa:
RGD
PMID:17651148
RGD:8551771
NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771
G
MMP9
matrix metallopeptidase 9
ISO
DNA:SNPs:promoter, intron, cds:-1590C>T, 2127G>T, p.R668Q (rs3918242, rs2274755, rs17577) (human)
RGD
PMID:22237587
RGD:8547819
NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
G
NOD1
nucleotide binding oligomerization domain containing 1
susceptibility
ISO
DNA:SNP: :rs2075817 (human)
RGD
PMID:16918516
RGD:5131519
NCBI chr21:27,907,628...27,957,621
Ensembl chr21:27,926,710...27,957,619
G
NOD2
nucleotide binding oligomerization domain containing 2
susceptibility
ISO
DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human)
RGD
PMID:16008671
RGD:5131477
NCBI chr 5:36,492,158...36,531,766
Ensembl chr 5:36,496,414...36,530,499
G
PTGS1
prostaglandin-endoperoxide synthase 1
ISO
protein:increased expression:respiratory system epithelium
RGD
PMID:19364335
RGD:5147461
NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315
G
SCGB1A1
secretoglobin family 1A member 1
ISO
mRNA, protein:decreased expression:nasal lavage fluid
RGD
PMID:15836756
RGD:5144234
NCBI chr 1:11,470,091...11,474,915
Ensembl chr 1:11,470,195...11,474,149
G
TLR3
toll like receptor 3
ISO
protein:decreased expression:bone marrow, blood, eosinophil (human)
RGD
PMID:19752565
RGD:5129130
NCBI chr 7:131,991,068...132,014,366
Ensembl chr 7:131,991,029...132,016,232
G
TLR4
toll like receptor 4
susceptibility
ISO
DNA:polymorphisms:cds:p.D299G, T399I (human)
RGD
PMID:18517079
RGD:4144192
NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515
G
VEGFA
vascular endothelial growth factor A
ISO
mRNA,protein:increased expression:nasal biopsies,nasal lavage fluid:
RGD
PMID:12633568
RGD:7483595
NCBI chr17:28,377,959...28,394,508
G
MAML3
mastermind like transcriptional coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859338
NCBI chr 7:86,673,649...87,107,768
Ensembl chr 7:86,673,346...86,848,086
G
PAX3
paired box 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859338
NCBI chr10:108,125,198...108,225,217
Ensembl chr10:108,125,747...108,224,478
G
SMARCB1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
RGD
PMID:30120966
RGD:127285653
NCBI chr19:6,902,985...6,945,111
Ensembl chr19:6,902,951...6,944,784
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