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
IAGP
DNA:snp:exon:c.1236C>T (human)
RGD
PMID:24040855
RGD:8657076
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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ACE
angiotensin I converting enzyme
no_association
IAGP
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:15112973
RGD:8142345
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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BCL2
BCL2 apoptosis regulator
ISO
mRNA, protein:increased expression:nasal mucosa (rat)
RGD
PMID:15362690
RGD:11522724
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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CAT
catalase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29028686
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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CCL11
C-C motif chemokine ligand 11
treatment
ISO
RGD
PMID:23089405
RGD:7248414
NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
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CCL26
C-C motif chemokine ligand 26
IEP
protein:increased expression:oronasal secretion (human)
RGD
PMID:23883806
RGD:7364793
NCBI chr 7:75,769,524...75,791,597
Ensembl chr 7:75,769,533...75,789,896
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CD40
CD40 molecule
IEP
protein:increased expression:lymphocyte
RGD
PMID:19086656
RGD:8547782
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD40LG
CD40 ligand
IEP
protein:increased expression:lymphocyte
RGD
PMID:19086656
RGD:8547782
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CLDN3
claudin 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33441633
NCBI chr 7:73,768,997...73,770,270
Ensembl chr 7:73,768,997...73,770,270
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CLDN7
claudin 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33441633
NCBI chr17:7,259,903...7,263,213
Ensembl chr17:7,259,903...7,263,983
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CTLA4
cytotoxic T-lymphocyte associated protein 4
treatment
ISO
RGD
PMID:10436391
RGD:11344920
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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F2
coagulation factor II, thrombin
IEP
protein:increased expression:nasal mucus
RGD
PMID:21711961
RGD:5147783
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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FCGR3A
Fc gamma receptor IIIa
susceptibility
IAGP
DNA:polymorphism:exon:p.F158V(rs396991)(human)
RGD
PMID:18199088
RGD:5508449
NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
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GRIA1
glutamate ionotropic receptor AMPA type subunit 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34624383
NCBI chr 5:153,489,615...153,813,869
Ensembl chr 5:153,489,615...153,813,869
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GRIA2
glutamate ionotropic receptor AMPA type subunit 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34624383
NCBI chr 4:157,220,120...157,366,075
Ensembl chr 4:157,204,182...157,387,146
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HLA-G
major histocompatibility complex, class I, G
IEP
RGD
PMID:20487636
RGD:5144132
NCBI chr 6:29,826,474...29,831,021
Ensembl chr 6:29,826,967...29,831,125
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HRH1
histamine receptor H1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23333628
NCBI chr 3:11,137,238...11,263,557
Ensembl chr 3:11,137,093...11,263,557
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IFNG
interferon gamma
treatment
IEP ISO
associated with Asthma
RGD
PMID:12787306 PMID:18510219
RGD:7829803 , RGD:10755770
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL10
interleukin 10
treatment
IEP ISO
RGD
PMID:23883806 PMID:23253209
RGD:7364793 , RGD:7364818
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
susceptibility no_association
IAGP EXP
DNA:SNP:promoter:-1512A>C (rs1881457) (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:exon:c. 2044G>A (human) DNA:missense mutation:cds:p.R130Q (rs20541) (human) DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human)
CTD OMIM RGD
PMID:23996716 PMID:17091279 PMID:22852128 PMID:12928861
RGD:8549501 , RGD:4152796 , RGD:8549518 , RGD:8549516
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL13RA2
interleukin 13 receptor subunit alpha 2
IEP
protein:increased expression:serum
RGD
PMID:21462799
RGD:8549521
NCBI chr X:115,003,982...115,017,616
Ensembl chr X:115,003,975...115,019,977
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IL17A
interleukin 17A
susceptibility
IAGP IEP
DNA:snp:promoter:c.-444A>G (human) mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:22507625 PMID:21535180
RGD:9068429 , RGD:5147409
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL18
interleukin 18
severity no_association
IAGP
DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNP:promoter:-140C>G (rs360721) (human)
RGD
PMID:22840759 PMID:22840759
RGD:8655914 , RGD:8655914
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL1B
interleukin 1 beta
IEP
protein:increased expression:nasal mucus
RGD
PMID:7750009
RGD:7401199
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL2
interleukin 2
ISO
RGD
PMID:12592663
RGD:8662963
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL4
interleukin 4
treatment
IEP ISO
RGD
PMID:9893928 PMID:24620662 PMID:8908280 PMID:14653048
RGD:7829796 , RGD:11522769 , RGD:7829827 , RGD:7829802
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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IL5
interleukin 5
treatment
ISO
RGD
PMID:23934070 PMID:24620662
RGD:11354976 , RGD:11522769
NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
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ITGB2
integrin subunit beta 2
treatment
ISO
RGD
PMID:12046991
RGD:9698435
NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989
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MUC1
mucin 1, cell surface associated
severity
IEP ISO
mRNA,protein:decreased expression:nasal mucosa
RGD
PMID:31425778 PMID:31425778 PMID:31425778
RGD:127345100 , RGD:127345100 , RGD:127345100
NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
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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 chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
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NOD2
nucleotide binding oligomerization domain containing 2
IEP
mRNA:increased expression:nasal mucosa (human)
RGD
PMID:23858718
RGD:8547523
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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OCLN
occludin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33441633
NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104
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PON1
paraoxonase 1
severity
IEP
protein:decreased activity:plasma (human)
RGD
PMID:23406590
RGD:8547583
NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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PRKG1
protein kinase cGMP-dependent 1
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:24012634
RGD:7775060
NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423
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PTGS2
prostaglandin-endoperoxide synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16979129
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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SCGB1A1
secretoglobin family 1A member 1
ISO
mRNA:decreased expression:nasal mucosa, lung
RGD
PMID:17882576
RGD:5144135
NCBI chr11:62,419,033...62,423,195
Ensembl chr11:62,405,103...62,423,195
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SCGB3A2
secretoglobin family 3A member 2
susceptibility
IAGP
DNA:SNP: :rs7726552 (human)
RGD
PMID:21410962
RGD:5144225
NCBI chr 5:147,878,711...147,882,191
Ensembl chr 5:147,870,682...147,882,191
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SERPINE1
serpin family E member 1
ISO
mRNA:increased expression:nasal mucosa (mouse)
RGD
PMID:21339035
RGD:8547809
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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TACR1
tachykinin receptor 1
ISO
mRNA:increased expression:nasal mucosa
RGD
PMID:12768696
RGD:5147835
NCBI chr 2:75,046,463...75,199,520
Ensembl chr 2:75,046,463...75,199,520
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TGFB1
transforming growth factor beta 1
treatment
ISO
RGD
PMID:31368266
RGD:14995445
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
severity
IAGP IEP ISO
DNA:polymorphism:cds:p.R753Q(human) protein:increased expression:neutrophil: mRNA:decreased expression:nasal mucosa:
RGD
PMID:22402138 PMID:22555057 PMID:18381801 PMID:18219831
RGD:7800732 , RGD:8552993 , RGD:8552972 , RGD:7800742
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
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TLR4
toll like receptor 4
severity treatment susceptibility no_association
IAGP IEP IDA
DNA:polymorphism:cds:p.D299G(human) protein:increased expression:nasal lavage,leukocyte, bone marrow: protein:decreased expression:nasal mucosa: DNA:SNP: :rs1927911(human) DNA:polymorphism: :4216G>C(human)
RGD
PMID:22402138 PMID:22555057 PMID:22577387 PMID:17069098 PMID:23639307 PMID:19763595 More...
RGD:7800732 , RGD:8552993 , RGD:7800740 , RGD:7800738 , RGD:7800736 , RGD:4145354
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TLR9
toll like receptor 9
IEP
protein:decreased expression:nasal mucosa:
RGD
PMID:22577387
RGD:7800740
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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CYP2C19
cytochrome P450 family 2 subfamily C member 19
treatment
IAGP
associated with Eosinophilic Esophagitis; DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547
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IL3
interleukin 3
susceptibility
IAGP
DNA:SNP: :rs40401(human)
RGD
PMID:23953855
RGD:13506915
NCBI chr 5:132,060,655...132,063,204
Ensembl chr 5:132,060,655...132,063,204
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SMCHD1
structural maintenance of chromosomes flexible hinge domain containing 1
IAGP EXP
ClinVar Annotator: match by term: Arhinia choanal atresia microphthalmia ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ARHINIA, CHOANAL ATRESIA, MICROPHTHALMIA, AND HYPOGONADOTROPIC HYPOGONADISM
ClinVar OMIM CTD
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 chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
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KMT2D
lysine methyltransferase 2D
IAGP
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
ClinVar OMIM
PMID:12002153 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31949313 PMID:32083401 More...
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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ADNP2
ADNP homeobox 2
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:80,109,262...80,140,346
Ensembl chr18:80,109,262...80,147,523
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ATP9B
ATPase phospholipid transporting 9B (putative)
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:79,069,394...79,378,283
Ensembl chr18:79,069,285...79,378,287
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CTDP1
CTD phosphatase subunit 1
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503
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GALR1
galanin receptor 1
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:77,249,848...77,277,900
Ensembl chr18:77,249,848...77,277,900
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HSBP1L1
heat shock factor binding protein 1 like 1
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:79,964,643...79,970,822
Ensembl chr18:79,964,582...79,970,822
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KCNG2
potassium voltage-gated channel modifier subfamily G member 2
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:79,797,938...79,900,100
Ensembl chr18:79,797,938...79,900,184
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LINC00683
long intergenic non-protein coding RNA 683
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,619,777...76,623,559
Ensembl chr18:76,528,652...76,670,111
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LINC01879
long intergenic non-protein coding RNA 1879
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,690,029...76,693,636
Ensembl chr18:76,686,058...76,693,636
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MBP
myelin basic protein
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683
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NFATC1
nuclear factor of activated T cells 1
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:79,395,930...79,529,323
Ensembl chr18:79,395,856...79,529,325
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PARD6G
par-6 family cell polarity regulator gamma
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:80,157,232...80,247,514
Ensembl chr18:80,157,232...80,247,514
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RBFA
ribosome binding factor A
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:80,034,434...80,050,651
Ensembl chr18:80,034,389...80,050,651
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SALL3
spalt like transcription factor 3
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:78,979,818...78,998,969
Ensembl chr18:78,979,818...79,002,677
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SLC66A2
solute carrier family 66 member 2
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:79,902,420...79,951,653
Ensembl chr18:79,902,420...79,951,657
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TXNL4A
thioredoxin like 4A
IAGP
ClinVar Annotator: match by term: Burn-Mckeown syndrome DNA:missense mutations,deletions:promoter, cds: DNA:deletions:promoter: ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar OMIM RGD
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:34713892 PMID:25434003 PMID:28905882 More...
RGD:11531484 , RGD:155882456
NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949
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ZNF236
zinc finger protein 236
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,822,557...76,972,901
Ensembl chr18:76,822,557...76,972,901
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ZNF516
zinc finger protein 516
IAGP
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,357,682...76,496,419
Ensembl chr18:76,357,682...76,495,242
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KMT2D
lysine methyltransferase 2D
IAGP
ClinVar Annotator: match by term: Choanal atresia
ClinVar
PMID:25741868 PMID:31395954
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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PTPN14
protein tyrosine phosphatase non-receptor type 14
IAGP
ClinVar Annotator: match by term: Choanal atresia and lymphedema
ClinVar OMIM
PMID:20826270 PMID:25741868
NCBI chr 1:214,348,700...214,551,602
Ensembl chr 1:214,348,700...214,552,449
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EDN1
endothelin 1
IEP
protein:increased expression:inferior turbinate, nasal gland, inflammatory cell (human)
RGD
PMID:8845175
RGD:8661738
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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CD8A
CD8 subunit alpha
ameliorates
IEP
protein:decreased expression:blood, T cell (human)
RGD
PMID:24639246
RGD:124715444
NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
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IL17A
interleukin 17A
IEP
protein:increased expression:uncinate process, nasal mucosa (human)
RGD
PMID:23613503
RGD:8696039
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL1RN
interleukin 1 receptor antagonist
susceptibility
IAGP
DNA:repeats:intron:IVS2+914_1000dup I/II alleles (human)
RGD
PMID:16549749
RGD:8549791
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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MBL2
mannose binding lectin 2
IEP
protein:decreased activity:serum:
RGD
PMID:23144819
RGD:8693716
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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PRG2
proteoglycan 2, pro eosinophil major basic protein
disease_progression
IEP
associated with Nasal Polyps;
RGD
PMID:24450586
RGD:13506943
NCBI chr11:57,386,780...57,390,650
Ensembl chr11:57,386,780...57,390,650
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CLU
clusterin
IEP
RGD
PMID:19903339
RGD:9014708
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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SOX2
SRY-box transcription factor 2
IAGP
DNA:amplification
RGD
PMID:23544055
RGD:8661654
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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TP53
tumor protein p53
IAGP
RGD
PMID:19950227
RGD:8547762
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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ABCB1
ATP binding cassette subfamily B member 1
severity
IEP
Nasal Type;protein:increased expression:nasal cavity (human)
RGD
PMID:18756548
RGD:8657087
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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CD274
CD274 molecule
disease_progression
IEP
associated with Epstein-Barr Virus Infections
RGD
PMID:27595782
RGD:41412182
NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
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CFLAR
CASP8 and FADD like apoptosis regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15924153
NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687
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FAS
Fas cell surface death receptor
IAGP
DNA:insertion, deletions:cds:multiple (human)
RGD
PMID:12466128
RGD:8662407
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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GPX3
glutathione peroxidase 3
treatment
IEP
associated with ethmoid sinus cancer and Neoplasm Metastasis
RGD
PMID:29496492
RGD:151708712
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
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JAK3
Janus kinase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22705984 PMID:23689514
NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
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PRDM1
PR/SET domain 1
disease_progression
IEP
RGD
PMID:24438193
RGD:150530467
NCBI chr 6:105,992,690...106,109,938
Ensembl chr 6:105,993,463...106,109,939
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STAT3
signal transducer and activator of transcription 3
IEP
protein:increased expression:nasal cavity (human)
RGD
PMID:17225522
RGD:153298933
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
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STAT5B
signal transducer and activator of transcription 5B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
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ADIPOQ
adiponectin, C1Q and collagen domain containing
IEP
protein:decreased expression:serum
RGD
PMID:19725899
RGD:5686851
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ALB
albumin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19389874
NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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ALOX5AP
arachidonate 5-lipoxygenase activating protein
IEP
protein:increased expression:nasal turbinate
RGD
PMID:19364335
RGD:5147461
NCBI chr13:30,713,485...30,764,426
Ensembl chr13:30,713,478...30,764,426
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CAT
catalase
IEP
protein:decreased expression:plasma
RGD
PMID:20493834
RGD:5130771
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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CCL2
C-C motif chemokine ligand 2
IEP
protein:increased expression:nasal turbinate, mucosa (human)
RGD
PMID:9865755
RGD:8548839
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCR2
C-C motif chemokine receptor 2
IEP
mRNA:increased expression:Nasal Mucosa
RGD
PMID:17982926
RGD:4145109
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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CCR5
C-C motif chemokine receptor 5
IEP
mRNA:increased expression:nasal mucosa (human)
RGD
PMID:17982926
RGD:4145109
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CD40
CD40 molecule
ISO
RGD
PMID:20226305
RGD:5132269
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD86
CD86 molecule
IEP
protein:increased expression:nasal mucosa, dendritic cell (human)
RGD
PMID:17088138
RGD:4892343
NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
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CHIA
chitinase acidic
IEP
mRNA, protein:increased expression:turbinate, mucosa (human)
RGD
PMID:20422678
RGD:5037226
NCBI chr 1:111,290,851...111,320,563
Ensembl chr 1:111,290,851...111,320,566
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EGR1
early growth response 1
IAGP
DNA:snp:5' utr:g.-4071A>G rs7729723 (human)
RGD
PMID:19833116
RGD:5131984
NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
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F2RL1
F2R like trypsin receptor 1
IEP
RGD
PMID:17727088
RGD:4892590
NCBI chr 5:76,819,030...76,835,315
Ensembl chr 5:76,818,933...76,835,315
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GSTP1
glutathione S-transferase pi 1
susceptibility
IAGP
DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:17181111
RGD:4142523
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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HMOX1
heme oxygenase 1
IEP
mRNA, protein:increased expression: nasal mucosa
RGD
PMID:16540907
RGD:4145406
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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ICAM1
intercellular adhesion molecule 1
ISO IEP
protein:increased expression:lung, endothelium (mouse) protein:increased secretion:nasopharynx (human)
RGD
PMID:19968652 PMID:19047814
RGD:4145464 , RGD:4145520
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IFNGR1
interferon gamma receptor 1
IAGP
DNA: SNP: Leu467Pro
RGD
PMID:12851715
RGD:6480431
NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
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IL13
interleukin 13
IEP
mRNA, protein:increased expression:nasal mucosa
RGD
PMID:8520776
RGD:4782826
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL17A
interleukin 17A
severity
IEP
protein:increased expression:serum
RGD
PMID:19226302
RGD:4889151
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL18
interleukin 18
susceptibility
IAGP
DNA:SNP:promoter:c. -607A>C (rs1946518) (human)
RGD
PMID:16406079
RGD:4889924
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL1A
interleukin 1 alpha
IAGP
DNA:polymorphism:exon:c.4845G>T (human)
RGD
PMID:14533660
RGD:4142859
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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IL1R1
interleukin 1 receptor type 1
IDA
RGD
PMID:18637763
RGD:5037238
NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
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IL2
interleukin 2
IEP
protein:decreased expression:serum:
RGD
PMID:17608155
RGD:8662959
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL4
interleukin 4
treatment
IEP
protein:increased expression:serum
RGD
PMID:21171297 PMID:9237816 PMID:15329007
RGD:5128559 , RGD:7829817 , RGD:7829804
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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IL5
interleukin 5
IEP
protein: increased levels: sputum
RGD
PMID:22186238
RGD:5687140
NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
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MMP2
matrix metallopeptidase 2
IEP
protein:increased expression:nasal mucosa:
RGD
PMID:19786210
RGD:5130872
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9
matrix metallopeptidase 9
IEP
protein:increased expression:nasal mucosa:
RGD
PMID:19786210
RGD:5130872
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NOS2
nitric oxide synthase 2
ISO
protein:increased expression:nasal mucosa
RGD
PMID:14587983
RGD:4892078
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
IAGP
DNA:snp:promoter:g.-786T>C (human)
RGD
PMID:18086269
RGD:4892054
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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NR3C1
nuclear receptor subfamily 3 group C member 1
IEP
protein:altered expression:nasal mucosa
RGD
PMID:20185258
RGD:4892593
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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PPARG
peroxisome proliferator activated receptor gamma
IEP
mRNA, protein:increased expression:nasal mucosa (human)
RGD
PMID:17116814
RGD:8552811
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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PTGS1
prostaglandin-endoperoxide synthase 1
IEP
protein:increased expression:respiratory system epithelium
RGD
PMID:19364335
RGD:5147461
NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
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TBXA2R
thromboxane A2 receptor
treatment
IMP
RGD
PMID:15247523
RGD:11059532
NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875
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ADAM33
ADAM metallopeptidase domain 33
susceptibility
IAGP
DNA:SNPs: :multiple (human)
RGD
PMID:18778489 PMID:15298558
RGD:4145378 , RGD:4145383
NCBI chr20:3,667,975...3,682,010
Ensembl chr20:3,667,965...3,682,246
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ANG
angiogenin
IEP
protein:increased expression:sputum
RGD
PMID:19178538
RGD:6892723
NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
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BDKRB1
bradykinin receptor B1
IEP
RGD
PMID:12165532
RGD:5129220
NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967
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BDKRB2
bradykinin receptor B2
IDA IMP
RGD
PMID:1890650 PMID:11149999
RGD:4891044 , RGD:4891033
NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166
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BDNF
brain derived neurotrophic factor
susceptibility
ISO IAGP
mRNA:increased expression:nasal cavity epithelium DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human)
RGD
PMID:20464992 PMID:21723144
RGD:4891116 , RGD:8655967
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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C3
complement C3
ISO IEP
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:17345707 PMID:20109314
RGD:5129524 , RGD:5129539
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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C3AR1
complement C3a receptor 1
severity
IEP
protein:increased expression:nasal cavity
RGD
PMID:18538384
RGD:5129559
NCBI chr12:8,056,844...8,066,359
Ensembl chr12:8,056,844...8,066,359
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C5AR1
complement C5a receptor 1
IEP
RGD
PMID:18538384
RGD:5129559
NCBI chr19:47,307,477...47,322,066
Ensembl chr19:47,290,023...47,322,066
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CASP1
caspase 1
IEP ISO
protein:increased expression:serum
RGD
PMID:12396474 PMID:20974310
RGD:5130192 , RGD:5130187
NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250
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CAT
catalase
treatment
ISO
protein:increased activity:blood,nasal cavity mucosa:
RGD
PMID:21541033
RGD:9479054
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
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:17982926
RGD:4145109
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
severity
IEP ISO
associated with Sinusitis;protein:increased expression:paranasal sinus protein:increased expression:nasal mucus mRNA:increased expression:lung, nose
RGD
PMID:17999785 PMID:16120080 PMID:16765544
RGD:4145455 , RGD:4145411 , RGD:4145462
NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
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CCL17
C-C motif chemokine ligand 17
IEP
protein:increased expression:blood, mononuclear cell
RGD
PMID:17517104
RGD:4145498
NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
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CCL19
C-C motif chemokine ligand 19
ISO
RGD
PMID:17947663
RGD:5130909
NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
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CCL22
C-C motif chemokine ligand 22
IEP
protein:increased expression:blood, mononuclear cell
RGD
PMID:17517104
RGD:4145498
NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189
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CCL24
C-C motif chemokine ligand 24
IEP IAGP
mRNA:increased expression:nasal cavity epithelium DNA:SNPs: :179T>C, 275C>T (human)
RGD
PMID:17982926 PMID:15580493
RGD:4145109 , RGD:4891493
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
IAGP IEP
DNA:polymorphism: :2497T>G (human) associated with Eosinophilia;protein:increased expression:oronasal secretion (human)
RGD
PMID:15580493 PMID:24989688
RGD:4891493 , RGD:11531119
NCBI chr 7:75,769,524...75,791,597
Ensembl chr 7:75,769,533...75,789,896
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CCL4
C-C motif chemokine ligand 4
IEP
RGD
PMID:19786211
RGD:5130914
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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CCL7
C-C motif chemokine ligand 7
IEP
RGD
PMID:17982926
RGD:4145109
NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
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CCL8
C-C motif chemokine ligand 8
IEP
RGD
PMID:20625511
RGD:5131089
NCBI chr17:34,319,435...34,321,402
Ensembl chr17:34,319,435...34,321,402
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CCR2
C-C motif chemokine receptor 2
susceptibility
IAGP
Rhinitis, Allergic, Seasonal; DNA:SNP:cds:p.V64I (human)
RGD
PMID:17135764
RGD:4145111
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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CCR3
C-C motif chemokine receptor 3
ISO IEP IAGP
mRNA:increased expression:nose protein:increased expression:blood, T cell DNA:SNP:exon:51T>C (human)
RGD
PMID:20696593 PMID:17156343 PMID:17135764
RGD:4145454 , RGD:4145645 , RGD:4145111
NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
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CD14
CD14 molecule
susceptibility resistance
IAGP
DNA:polymorphism:promoter:c. -159c>T (human)
RGD
PMID:20109306 PMID:16950285
RGD:4144795 , RGD:4144810
NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
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CD28
CD28 molecule
IEP
RGD
PMID:21356099
RGD:5131612
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912
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CD80
CD80 molecule
ISO
RGD
PMID:21108691
RGD:5132622
NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614
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CDC42
cell division cycle 42
IEP
mRNA:increased expression:nasal turbinate
RGD
PMID:19432938
RGD:5688273
NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
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CFTR
CF transmembrane conductance regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16083808
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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CRHR1
corticotropin releasing hormone receptor 1
IEP
mRNA, protein:increased expression:nasal cavity epithelium
RGD
PMID:17597629
RGD:5130940
NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828
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CRHR2
corticotropin releasing hormone receptor 2
IEP
mRNA, protein:increased expression:nasal cavity epithelium
RGD
PMID:17597629
RGD:5130940
NCBI chr 7:30,651,942...30,700,103
Ensembl chr 7:30,651,942...30,700,129
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CTLA4
cytotoxic T-lymphocyte associated protein 4
IEP
protein:increased expression:T cell
RGD
PMID:17625281
RGD:4891512
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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CX3CL1
C-X3-C motif chemokine ligand 1
IEP
protein:increased expression:plasma
RGD
PMID:14657873
RGD:4891906
NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
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CXCL6
C-X-C motif chemokine ligand 6
IEP
protein:increased expression:nasal mucus
RGD
PMID:20659080
RGD:4892030
NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064
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CYP2D6
cytochrome P450 family 2 subfamily D member 6
IAGP
DNA:SNP:3' utr:*1934G>A (human)
RGD
PMID:20088379
RGD:5143945
NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,865
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CYSLTR1
cysteinyl leukotriene receptor 1
IMP ISO IEP
associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium
RGD
PMID:18946234 PMID:15379985 PMID:17627772 PMID:16689996
RGD:4888516 , RGD:4847512 , RGD:4781451 , RGD:4783198
NCBI chr X:78,271,468...78,327,611
Ensembl chr X:78,271,468...78,327,691
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CYSLTR2
cysteinyl leukotriene receptor 2
IEP
associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium
RGD
PMID:16689996
RGD:4783198
NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226
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FCER1A
Fc epsilon receptor Ia
IEP
RGD
PMID:20650300
RGD:5128714
NCBI chr 1:159,283,575...159,308,202
Ensembl chr 1:159,289,714...159,308,224
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FIS1
fission, mitochondrial 1
ISO
mRNA, protein:increased expression:nasal cavity mucosa (rat)
RGD
PMID:28146064
RGD:13204839
NCBI chr 7:101,239,472...101,245,081
Ensembl chr 7:101,239,458...101,252,316
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HDC
histidine decarboxylase
IAGP ISO
DNA:SNP: :p.E644D (rs2073440) (human)
RGD
PMID:20608921 PMID:15054596
RGD:5128884 , RGD:5143921
NCBI chr15:50,241,947...50,265,726
Ensembl chr15:50,241,947...50,265,965
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HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
susceptibility
IAGP
DNA:polymorphisms:cds:HLA-DQA1*0201, HLA-DQA1*0302 (human)
RGD
PMID:14990915
RGD:5147798
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
DNA:polymorphism:cds:HLA-DQB1*0602 (human)
RGD
PMID:14990915
RGD:5147798
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HNMT
histamine N-methyltransferase
no_association
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17651147 PMID:17651147
RGD:5128885
NCBI chr 2:137,964,473...138,016,364
Ensembl chr 2:137,964,020...138,016,364
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HRH1
histamine receptor H1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12167471
NCBI chr 3:11,137,238...11,263,557
Ensembl chr 3:11,137,093...11,263,557
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IL13
interleukin 13
disease_progression susceptibility
ISO IAGP
mRNA:increased expression:nose associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human) DNA:polymorphism: :rs1800925 (human)
RGD
PMID:16120094 PMID:20696593 PMID:17088137 PMID:20358028 PMID:20484924
RGD:4206706 , RGD:4145454 , RGD:4159171 , RGD:4145767 , RGD:4145534
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL13RA2
interleukin 13 receptor subunit alpha 2
ISO
RGD
PMID:17088137
RGD:4159171
NCBI chr X:115,003,982...115,017,616
Ensembl chr X:115,003,975...115,019,977
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IL15
interleukin 15
ISO
RGD
PMID:16750998
RGD:5000756
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
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IL16
interleukin 16
IEP ISO
protein:increased expression:serum protein:increased expression:nasal cavity epithelium, serum
RGD
PMID:18254318 PMID:19295235
RGD:5024932 , RGD:5024931
NCBI chr15:81,182,712...81,314,058
Ensembl chr15:81,159,575...81,314,058
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IL17A
interleukin 17A
IEP IDA
protein:increased expression:nasal mucosa
RGD
PMID:20506642 PMID:19927541
RGD:4889137 , RGD:4889144
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL18
interleukin 18
disease_progression
ISO IEP
protein:increased expression:nasal lavage fluid, bronchoalveolar lavage fluid rhinitis allergic, seasonal; protein:increased expression:plasma protein:increased expression:serum
RGD
PMID:17305282 PMID:15934281 PMID:17323858
RGD:4889917 , RGD:4889927 , RGD:4889916
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL1B
interleukin 1 beta
susceptibility
ISO IAGP IEP
mRNA:increased expression:nasal cavity epithelium associated with Hypersensitivity;DNA:polymorphism: :-511C>T (human) associated with Hypersensitivity;protein:increased expression:nasal mucus
RGD
PMID:20490816 PMID:14533660 PMID:10224452
RGD:4142821 , RGD:4142859 , RGD:4143227
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RL1
interleukin 1 receptor like 1
severity
IEP
associated with Sinusitis;DNA:SNPs: :multiple (human)
RGD
PMID:19671251
RGD:5144228
NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037
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IL1RN
interleukin 1 receptor antagonist
susceptibility
IEP IAGP
associated with Hypersensitivity;DNA:repeat:intron (human)
RGD
PMID:15178892 PMID:14533660 PMID:10224452
RGD:4143215 , RGD:4142859 , RGD:4143227
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL2
interleukin 2
susceptibility
IAGP
DNA:SNP:promoter:rs2069762(human)
RGD
PMID:16333313
RGD:8663473
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL21
interleukin 21
ISO
RGD
PMID:17982108
RGD:5147397
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
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IL22
interleukin 22
severity
IEP
mRNA:increased expression:blood, mononuclear cell
RGD
PMID:21535180
RGD:5147409
NCBI chr12:68,248,242...68,253,604
Ensembl chr12:68,248,242...68,253,604
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IL23R
interleukin 23 receptor
susceptibility
IAGP
DNA:SNP,haplotype: :rs7517847(human)
RGD
PMID:23696856
RGD:8549605
NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
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IL27RA
interleukin 27 receptor subunit alpha
ISO
RGD
PMID:19354069
RGD:5128480
NCBI chr19:14,031,762...14,053,218
Ensembl chr19:14,031,762...14,053,218
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IL4
interleukin 4
ISO EXP
mRNA:increased expression:nasal cavity epithelium CTD Direct Evidence: marker/mechanism protein:increased expression:serum
CTD RGD
PMID:19672097 PMID:21208219 PMID:18826099
RGD:5128558 , RGD:2317285
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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IL4R
interleukin 4 receptor
IAGP
DNA:polymorphism: :c.1432T>C (human)
RGD
PMID:15564773
RGD:4890394
NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778
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IL5
interleukin 5
ISO
RGD
PMID:11884474
RGD:5128622
NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
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IL9
interleukin 9
IEP
RGD
PMID:20525149
RGD:5128687
NCBI chr 5:135,892,246...135,895,841
Ensembl chr 5:135,892,246...135,895,841
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LEP
leptin
IDA
RGD
PMID:19860581
RGD:5128850
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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MBL2
mannose binding lectin 2
susceptibility
IAGP
DNA:polymorphism: :
RGD
PMID:18831943
RGD:8693717
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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MFN1
mitofusin 1
ISO
mRNA, protein:increased expression:nasal cavity mucosa (rat)
RGD
PMID:28146064
RGD:13204839
NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936
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MIF
macrophage migration inhibitory factor
severity
IEP ISO
protein:increased expression:serum, nasal mucosa
RGD
PMID:15053202 PMID:15922619
RGD:4891045 , RGD:4891056
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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MS4A2
membrane spanning 4-domains A2
IDA
RGD
PMID:15480314
RGD:5131152
NCBI chr11:60,088,259...60,098,467
Ensembl chr11:60,088,261...60,098,467
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
ISO IEP
mRNA:increased expression:nose
RGD
PMID:20696593 PMID:15715404
RGD:4145454 , RGD:7364740
NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
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NGF
nerve growth factor
IEP
associated with Sinusitis;protein:increased expression:respiratory system mucosa protein:increased expression:respiratory system fluid/secretion
RGD
PMID:19958603 PMID:10224365
RGD:4891064 , RGD:4891115
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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NGFR
nerve growth factor receptor
IEP
protein:increased expression:blood, eosinophil
RGD
PMID:18647313
RGD:5144116
NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
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NOD1
nucleotide binding oligomerization domain containing 1
IEP
mRNA:decreased expression:nose
RGD
PMID:20384614
RGD:5131446
NCBI chr 7:30,424,527...30,478,784
Ensembl chr 7:30,424,527...30,478,784
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NOD2
nucleotide binding oligomerization domain containing 2
susceptibility
IAGP
DNA:polymorphisms:cds:2104C>T,2722G>C (human)
RGD
PMID:12704363
RGD:5131484
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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NOS2
nitric oxide synthase 2
IEP
protein:increased expression:nasal mucosa
RGD
PMID:18254476
RGD:4891910
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NPY
neuropeptide Y
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12746121
NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
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NTRK1
neurotrophic receptor tyrosine kinase 1
IEP
protein:increased expression:eosinophil
RGD
PMID:18647313
RGD:5144116
NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
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OPA1
OPA1 mitochondrial dynamin like GTPase
ISO
mRNA, protein:increased expression:nasal cavity mucosa (rat)
RGD
PMID:28146064
RGD:13204839
NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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PLAU
plasminogen activator, urokinase
ISO
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:21339035
RGD:8547809
NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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PTGDR2
prostaglandin D2 receptor 2
IEP ISO
RGD
PMID:19230460 PMID:19608418
RGD:5135021 , RGD:5135017
NCBI chr11:60,850,933...60,855,950
Ensembl chr11:60,850,933...60,855,950
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SCGB3A2
secretoglobin family 3A member 2
IEP
protein:increased expression:sputum mRNA,protein:decreased expression:nasal mucosa
RGD
PMID:17218572 PMID:21385388
RGD:5144232 , RGD:5147389
NCBI chr 5:147,878,711...147,882,191
Ensembl chr 5:147,870,682...147,882,191
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SERPINE1
serpin family E member 1
susceptibility
IAGP
DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:19063817
RGD:4144832
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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SFTPD
surfactant protein D
susceptibility
IAGP
associated with Hypersensitivity;DNA:polymorphism: :p.M11T (human)
RGD
PMID:19493231
RGD:4143494
NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
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TAP1
transporter 1, ATP binding cassette subfamily B member
susceptibility no_association
IAGP
DNA:SNPs: :
RGD
PMID:17982230 PMID:12018331
RGD:6482262 , RGD:6482274
NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
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TBXA2R
thromboxane A2 receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12167471
NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875
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TGFB1
transforming growth factor beta 1
IEP
associated with Sinusitis
RGD
PMID:18423831
RGD:4145277
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
susceptibility no_association
IAGP IEP
DNA:SNPs: :597T>C, 1350T>C (human) mRNA:decreased expression:nasal mucosa: associated with Sinusitis;DNA:SNPs: :multiple (human)
RGD
PMID:19763595 PMID:18219831 PMID:19128592
RGD:4145354 , RGD:7800742 , RGD:4145356
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
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TLR6
toll like receptor 6
IAGP
associated with Asthma;DNA:SNP: :rs2381289 (human)
RGD
PMID:20815312
RGD:4145352
NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817
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TNF
tumor necrosis factor
IDA ISO
mRNA:increased expression:nose
RGD
PMID:15120189 PMID:20696593
RGD:4143470 , RGD:4145454
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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VEGFA
vascular endothelial growth factor A
IEP
protein:increased expression:sputum
RGD
PMID:19178538
RGD:6892723
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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VIP
vasoactive intestinal peptide
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12746121 PMID:14680090
NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
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ANXA1
annexin A1
IEP
associated with Nasal Polyps
RGD
PMID:22279949
RGD:7421555
NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393
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C3
complement C3
IEP
protein:increased expression:serum
RGD
PMID:19593977
RGD:4889484
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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C4A
complement C4A (Rodgers blood group)
disease_progression
IAGP
DNA:deletion: :
RGD
PMID:16879240
RGD:5688262
NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
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CCL20
C-C motif chemokine ligand 20
IEP
RGD
PMID:16702571
RGD:7483585
NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
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HGF
hepatocyte growth factor
susceptibility
IAGP
DNA:haplotype::rs38850,rs38855,rs38857(human)
RGD
PMID:20416453
RGD:8548615
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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IGF1
insulin like growth factor 1
ISO
mRNA:increased expression:nose:
RGD
PMID:20713758
RGD:8548883
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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IL10
interleukin 10
IEP
protein:decreased expression:blood, mononuclear cell
RGD
PMID:23168151
RGD:7364820
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL17A
interleukin 17A
IEP
associated with Asthma;mRNA, protein:increased expression:nasal polyps (human)
RGD
PMID:19672092
RGD:4889146
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL1B
interleukin 1 beta
IEP
protein:increased expression:nasal cavity epithelium
RGD
PMID:11197112
RGD:7401169
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL22RA1
interleukin 22 receptor subunit alpha 1
susceptibility
IAGP
DNA:SNPs:5' utr, intron: (rs4292900, rs16829225, rs4648936) (human)
RGD
PMID:19393422
RGD:5147411
NCBI chr 1:24,119,771...24,143,140
Ensembl chr 1:24,119,771...24,143,140
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IL4
interleukin 4
treatment
IEP
associated with Asthma
RGD
PMID:12787306
RGD:7829803
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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MMP9
matrix metallopeptidase 9
IEP
RGD
PMID:23401274
RGD:8547880
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
treatment
ISO
RGD
PMID:23131200 PMID:19389874
RGD:7349403 , RGD:7364734
NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
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PRKRA
protein activator of interferon induced protein kinase EIF2AK2
severity
IEP
associated with Nasal Polyps
RGD
PMID:22961479
RGD:7777146
NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512
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SERPINE1
serpin family E member 1
IEP
protein:increased expression:nasal mucosa (human)
RGD
PMID:21711960
RGD:6483796
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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TLR2
toll like receptor 2
susceptibility
IEP IAGP
mRNA,protein:increased expression:paranasal sinus DNA:polymorphisms:: rs3804099,rs3804100(human)
RGD
PMID:22182736 PMID:21493395
RGD:7800733 , RGD:8552975
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,070...153,706,260
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TLR4
toll like receptor 4
IEP
mRNA,protein:increased expression:paranasal sinus
RGD
PMID:22182736
RGD:7800733
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TNF
tumor necrosis factor
IEP ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:11197112 PMID:20147558
RGD:7401169 , RGD:7401236
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
IAGP
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 (human)
RGD
PMID:15577839
RGD:5147654
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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ALOX5
arachidonate 5-lipoxygenase
IEP
RGD
PMID:16677242
RGD:5147463
NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
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APOA4
apolipoprotein A4
resistance
IEP
protein:increased expression:blood serum (human)
RGD
PMID:20810159
RGD:5685642
NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304
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BDNF
brain derived neurotrophic factor
severity
IEP
protein:increased expression:blood, nasal cavity epithelium
RGD
PMID:18266897
RGD:5144117
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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CCL5
C-C motif chemokine ligand 5
IEP
protein:increased expression:inferior turbinate, epithelium (human)
RGD
PMID:20459697
RGD:4891379
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CMA1
chymase 1
IEP
protein:increased expression:nasal mucosa, mast cell (human)
RGD
PMID:11549546
RGD:5128839
NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265
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CST1
cystatin SN
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23950865
NCBI chr20:23,747,562...23,750,935
Ensembl chr20:23,747,562...23,751,268
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FGA
fibrinogen alpha chain
IDA
RGD
PMID:21887273
RGD:5688767
NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
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GSTO1
glutathione S-transferase omega 1
IEP
protein:decreased expression;T lymphocyte:
RGD
PMID:21410266
RGD:5491008
NCBI chr10:104,254,173...104,267,455
Ensembl chr10:104,235,356...104,267,459
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
DNA:polymorphism:cds:HLA-DQB1*05 (human) DNA:polymorphisms, haplotype:cds:HLA-DQB1*0301, HLA-DQB1*0501 (human)
RGD
PMID:22032123 PMID:9641569
RGD:7421561 , RGD:7421576
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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ICAM1
intercellular adhesion molecule 1
IEP
protein:increased secretion:nasopharynx, secretion (human)
RGD
PMID:20128420
RGD:4145459
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IFNGR1
interferon gamma receptor 1
IAGP
DNA: SNP: Leu467Pro
RGD
PMID:12851715
RGD:6480431
NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
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IL10
interleukin 10
treatment
IEP
RGD
PMID:19505388
RGD:7365025
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL18
interleukin 18
susceptibility no_association
IAGP
DNA:SNPs:promoters, exon:multiple DNA:SNPs:promoters:multiple
RGD
PMID:12532106 PMID:12532106
RGD:8655871 , RGD:8655871
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL4
interleukin 4
IEP
protein:increased expression:serum mRNA:increased expression:nose:
RGD
PMID:9237816 PMID:7551298
RGD:7829817 , RGD:8662960
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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KDR
kinase insert domain receptor
IEP
protein:increased expression:nasal cavity of mucosa:
RGD
PMID:17651148
RGD:8551771
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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MC1R
melanocortin 1 receptor
no_association
ISO
RGD
PMID:20357480
RGD:5687317
NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
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MMP9
matrix metallopeptidase 9
IAGP
DNA:SNPs:promoter, intron, cds:-1590C>T, 2127G>T, p.R668Q (rs3918242, rs2274755, rs17577) (human)
RGD
PMID:22237587
RGD:8547819
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NOD1
nucleotide binding oligomerization domain containing 1
susceptibility
IAGP
DNA:SNP: :rs2075817 (human)
RGD
PMID:16918516
RGD:5131519
NCBI chr 7:30,424,527...30,478,784
Ensembl chr 7:30,424,527...30,478,784
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NOD2
nucleotide binding oligomerization domain containing 2
susceptibility
IAGP
DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human)
RGD
PMID:16008671
RGD:5131477
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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PTGS1
prostaglandin-endoperoxide synthase 1
IEP
protein:increased expression:respiratory system epithelium
RGD
PMID:19364335
RGD:5147461
NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
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SCGB1A1
secretoglobin family 1A member 1
IEP
mRNA, protein:decreased expression:nasal lavage fluid
RGD
PMID:15836756
RGD:5144234
NCBI chr11:62,419,033...62,423,195
Ensembl chr11:62,405,103...62,423,195
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TLR3
toll like receptor 3
IEP
protein:decreased expression:bone marrow, blood, eosinophil (human)
RGD
PMID:19752565
RGD:5129130
NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
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TLR4
toll like receptor 4
susceptibility
IAGP
DNA:polymorphisms:cds:p.D299G, T399I (human)
RGD
PMID:18517079
RGD:4144192
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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VEGFA
vascular endothelial growth factor A
IEP
mRNA,protein:increased expression:nasal biopsies,nasal lavage fluid:
RGD
PMID:12633568
RGD:7483595
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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MAML3
mastermind like transcriptional coactivator 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859338
NCBI chr 4:139,716,753...140,154,184
Ensembl chr 4:139,716,753...140,154,184
G
PAX3
paired box 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859338
NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
G
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
IEP
RGD
PMID:30120966
RGD:127285653
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all