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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Abcb1a
ATP-binding cassette, sub-family B (MDR/TAP), member 1A
severity
ISO
DNA:snp:exon:c.1236C>T (human)
RGD
PMID:24040855
RGD:8657076
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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Ace
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
no_association
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:15112973
RGD:8142345
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Bcl2
B cell leukemia/lymphoma 2
ISO
mRNA, protein:increased expression:nasal mucosa (rat)
RGD
PMID:15362690
RGD:11522724
NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29028686
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Ccl11
chemokine (C-C motif) ligand 11
treatment
ISO
RGD
PMID:23089405
RGD:7248414
NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl26
chemokine (C-C motif) ligand 26
ISO
protein:increased expression:oronasal secretion (human)
RGD
PMID:23883806
RGD:7364793
NCBI chr 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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Cd40
CD40 antigen
ISO
protein:increased expression:lymphocyte
RGD
PMID:19086656
RGD:8547782
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd40lg
CD40 ligand
ISO
protein:increased expression:lymphocyte
RGD
PMID:19086656
RGD:8547782
NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402
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Cldn3
claudin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33441633
NCBI chr 5:135,015,068...135,016,330
Ensembl chr 5:135,015,068...135,016,326
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Cldn7
claudin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33441633
NCBI chr11:69,855,605...69,858,712
Ensembl chr11:69,855,605...69,858,711
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
treatment
IDA
RGD
PMID:10436391
RGD:11344920
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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F2
coagulation factor II
ISO
protein:increased expression:nasal mucus
RGD
PMID:21711961
RGD:5147783
NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
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Fcgr4
Fc receptor, IgG, low affinity IV
susceptibility
ISO
DNA:polymorphism:exon:p.F158V(rs396991)(human)
RGD
PMID:18199088
RGD:5508449
NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
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Gria1
glutamate receptor, ionotropic, AMPA1 (alpha 1)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34624383
NCBI chr11:56,902,342...57,221,070
Ensembl chr11:56,902,213...57,221,070
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Gria2
glutamate receptor, ionotropic, AMPA2 (alpha 2)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34624383
NCBI chr 3:80,588,757...80,711,534
Ensembl chr 3:80,588,757...80,710,142
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H2-M3
histocompatibility 2, M region locus 3
ISO
RGD
PMID:20487636
RGD:5144132
NCBI chr17:37,581,094...37,585,376
Ensembl chr17:37,581,111...37,585,375
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Hrh1
histamine receptor H1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23333628
NCBI chr 6:114,374,897...114,459,432
Ensembl chr 6:114,374,897...114,460,257
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Ifng
interferon gamma
treatment
ISO
associated with Asthma
RGD
PMID:12787306 PMID:18510219
RGD:7829803 , RGD:10755770
NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
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Il10
interleukin 10
treatment
ISO IDA
RGD
PMID:23883806 PMID:23253209
RGD:7364793 , RGD:7364818
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
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Il13
interleukin 13
susceptibility no_association
ISO
DNA:polymorphism:exon:c. 2044G>A (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.R130Q (rs20541) (human) DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) DNA:SNP:promoter:-1512A>C (rs1881457) (human)
CTD OMIM RGD
PMID:17091279 PMID:22852128 PMID:12928861 PMID:23996716
RGD:4152796 , RGD:8549518 , RGD:8549516 , RGD:8549501
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il13ra2
interleukin 13 receptor, alpha 2
ISO
protein:increased expression:serum
RGD
PMID:21462799
RGD:8549521
NCBI chr X:146,166,474...146,214,982
Ensembl chr X:146,166,472...146,212,188
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Il17a
interleukin 17A
susceptibility
ISO
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 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18
interleukin 18
severity no_association
ISO
DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNP:promoter:-140C>G (rs360721) (human)
RGD
PMID:22840759 PMID:22840759
RGD:8655914 , RGD:8655914
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1b
interleukin 1 beta
ISO
protein:increased expression:nasal mucus
RGD
PMID:7750009
RGD:7401199
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
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Il2
interleukin 2
ISO
RGD
PMID:12592663
RGD:8662963
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il4
interleukin 4
treatment
ISO
RGD
PMID:9893928 PMID:24620662 PMID:8908280 PMID:14653048
RGD:7829796 , RGD:11522769 , RGD:7829827 , RGD:7829802
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il5
interleukin 5
treatment
ISO
RGD
PMID:23934070 PMID:24620662
RGD:11354976 , RGD:11522769
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Itgb2
integrin beta 2
treatment
ISO
RGD
PMID:12046991
RGD:9698435
NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
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Muc1
mucin 1, transmembrane
severity
ISO
mRNA,protein:decreased expression:nasal mucosa
RGD
PMID:31425778 PMID:31425778 PMID:31425778
RGD:127345100 , RGD:127345100 , RGD:127345100
NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
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Muc5ac
mucin 5, subtypes A and C, tracheobronchial/gastric
ISO
mRNA, protein:increased expression:nasal cavity epithelium
RGD
PMID:22972875
RGD:7364746
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
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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 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
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Ocln
occludin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33441633
NCBI chr13:100,633,012...100,689,226
Ensembl chr13:100,633,015...100,689,226
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Pon1
paraoxonase 1
severity
ISO
protein:decreased activity:plasma (human)
RGD
PMID:23406590
RGD:8547583
NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
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Prkg1
protein kinase, cGMP-dependent, type I
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:24012634
RGD:7775060
NCBI chr19:30,541,887...31,742,675
Ensembl chr19:30,541,889...31,742,433
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16979129
NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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Scgb1a1
secretoglobin, family 1A, member 1
IEP
mRNA:decreased expression:nasal mucosa, lung
RGD
PMID:17882576
RGD:5144135
NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322
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Scgb3a2
secretoglobin, family 3A, member 2
susceptibility
ISO
DNA:SNP: :rs7726552 (human)
RGD
PMID:21410962
RGD:5144225
NCBI chr18:43,897,346...43,900,464
Ensembl chr18:43,897,354...43,900,464
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Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
IEP
mRNA:increased expression:nasal mucosa (mouse)
RGD
PMID:21339035
RGD:8547809
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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Tacr1
tachykinin receptor 1
ISO
mRNA:increased expression:nasal mucosa
RGD
PMID:12768696
RGD:5147835
NCBI chr 6:82,378,990...82,537,085
Ensembl chr 6:82,379,315...82,537,085
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Tgfb1
transforming growth factor, beta 1
treatment
ISO
RGD
PMID:31368266
RGD:14995445
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
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Tlr2
toll-like receptor 2
severity
ISO IDA
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 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr4
toll-like receptor 4
severity treatment susceptibility no_association
ISO
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 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
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Tlr9
toll-like receptor 9
ISO
protein:decreased expression:nasal mucosa:
RGD
PMID:22577387
RGD:7800740
NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082
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Cyp2c38
cytochrome P450, family 2, subfamily c, polypeptide 38
treatment
ISO
associated with Eosinophilic Esophagitis; DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr19:39,379,109...39,451,519
Ensembl chr19:39,378,000...39,451,519
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Cyp2c66
cytochrome P450, family 2, subfamily c, polypeptide 66
treatment
ISO
associated with Eosinophilic Esophagitis; DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr19:39,102,342...39,175,200
Ensembl chr19:39,102,342...39,175,516
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Il3
interleukin 3
susceptibility
ISO
DNA:SNP: :rs40401(human)
RGD
PMID:23953855
RGD:13506915
NCBI chr11:54,155,911...54,158,105
Ensembl chr11:54,156,129...54,158,103
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Smchd1
SMC hinge domain containing 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia
CTD ClinVar OMIM
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 chr17:71,651,484...71,782,361
Ensembl chr17:71,651,484...71,782,338
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Kmt2d
lysine (K)-specific 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:12002153 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31949313 PMID:32083401 More...
NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
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Adnp2
ADNP homeobox 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:80,169,523...80,195,284
Ensembl chr18:80,169,526...80,194,697
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Atp9b
ATPase, class II, type 9B
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:80,777,356...80,977,291
Ensembl chr18:80,777,356...80,977,275
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Ctdp1
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:80,451,174...80,522,959
Ensembl chr18:80,451,174...80,512,910
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Galr1
galanin receptor 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:82,410,621...82,424,902
Ensembl chr18:82,410,505...82,424,902
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Hsbp1l1
heat shock factor binding protein 1-like 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:80,272,154...80,293,329
Ensembl chr18:80,272,973...80,290,317
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Kcng2
potassium voltage-gated channel, subfamily G, member 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:80,337,731...80,407,469
Ensembl chr18:80,337,761...80,407,469
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Mbp
myelin basic protein
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
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Nfatc1
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:80,649,418...80,756,286
Ensembl chr18:80,649,420...80,756,286
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Pard6g
par-6 family cell polarity regulator gamma
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:80,090,045...80,162,855
Ensembl chr18:80,090,105...80,162,854
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Rbfa
ribosome binding factor A
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:80,235,479...80,243,873
Ensembl chr18:80,235,480...80,243,873
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Sall3
spalt like transcription factor 3
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:81,010,204...81,030,236
Ensembl chr18:81,009,591...81,029,986
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Slc66a2
solute carrier family 66 member 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:80,298,458...80,335,940
Ensembl chr18:80,296,507...80,335,940
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Txnl4a
thioredoxin-like 4A
ISO
DNA:missense mutations,deletions:promoter, cds: DNA:deletions:promoter: ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome
OMIM ClinVar 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 chr18:80,250,041...80,269,066
Ensembl chr18:80,249,980...80,255,956 Ensembl chr18:80,249,980...80,255,956
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Zfp236
zinc finger protein 236
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:82,611,718...82,711,044
Ensembl chr18:82,611,718...82,711,008
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Zfp516
zinc finger protein 516
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:82,925,324...83,023,439
Ensembl chr18:82,928,788...83,023,439
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Kmt2d
lysine (K)-specific methyltransferase 2D
ISO
ClinVar Annotator: match by term: Choanal atresia
ClinVar
PMID:25741868 PMID:31395954
NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
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Ptpn14
protein tyrosine phosphatase, non-receptor type 14
ISO
ClinVar Annotator: match by term: Choanal atresia and lymphedema
OMIM ClinVar
PMID:20826270 PMID:25741868
NCBI chr 1:189,460,417...189,608,892
Ensembl chr 1:189,460,465...189,608,892
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Edn1
endothelin 1
ISO
protein:increased expression:inferior turbinate, nasal gland, inflammatory cell (human)
RGD
PMID:8845175
RGD:8661738
NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
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Cd8a
CD8 antigen, alpha chain
ameliorates
ISO
protein:decreased expression:blood, T cell (human)
RGD
PMID:24639246
RGD:124715444
NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157
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Il17a
interleukin 17A
ISO
protein:increased expression:uncinate process, nasal mucosa (human)
RGD
PMID:23613503
RGD:8696039
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
DNA:repeats:intron:IVS2+914_1000dup I/II alleles (human)
RGD
PMID:16549749
RGD:8549791
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
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Mbl2
mannose-binding lectin (protein C) 2
ISO
protein:decreased activity:serum:
RGD
PMID:23144819
RGD:8693716
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
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Prg2
proteoglycan 2, bone marrow
disease_progression
ISO
associated with Nasal Polyps;
RGD
PMID:24450586
RGD:13506943
NCBI chr 2:84,810,805...84,813,977
Ensembl chr 2:84,810,805...84,813,976
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Clu
clusterin
ISO
RGD
PMID:19903339
RGD:9014708
NCBI chr14:66,205,932...66,218,997
Ensembl chr14:66,205,932...66,218,996
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Sox2
SRY (sex determining region Y)-box 2
ISO
DNA:amplification
RGD
PMID:23544055
RGD:8661654
NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610
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Trp53
transformation related protein 53
ISO
RGD
PMID:19950227
RGD:8547762
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Abcb1a
ATP-binding cassette, sub-family B (MDR/TAP), member 1A
severity
ISO
Nasal Type;protein:increased expression:nasal cavity (human)
RGD
PMID:18756548
RGD:8657087
NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
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Cd274
CD274 antigen
disease_progression
ISO
associated with Epstein-Barr Virus Infections
RGD
PMID:27595782
RGD:41412182
NCBI chr19:29,339,428...29,365,495
Ensembl chr19:29,344,855...29,365,495
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15924153
NCBI chr 1:58,750,353...58,798,043
Ensembl chr 1:58,750,667...58,798,043
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Fas
Fas (TNF receptor superfamily member 6)
ISO
DNA:insertion, deletions:cds:multiple (human)
RGD
PMID:12466128
RGD:8662407
NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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Gpx3
glutathione peroxidase 3
treatment
ISO
associated with ethmoid sinus cancer and Neoplasm Metastasis
RGD
PMID:29496492
RGD:151708712
NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203
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Jak3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22705984 PMID:23689514
NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
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Prdm1
PR domain containing 1, with ZNF domain
disease_progression
ISO
RGD
PMID:24438193
RGD:150530467
NCBI chr10:44,313,170...44,404,579
Ensembl chr10:44,313,173...44,404,497
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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 chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Stat5b
signal transducer and activator of transcription 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29200404
NCBI chr11:100,671,557...100,741,407
Ensembl chr11:100,671,557...100,741,550
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:serum
RGD
PMID:19725899
RGD:5686851
NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19389874
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Alox5ap
arachidonate 5-lipoxygenase activating protein
ISO
protein:increased expression:nasal turbinate
RGD
PMID:19364335
RGD:5147461
NCBI chr 5:149,201,814...149,224,963
Ensembl chr 5:149,201,577...149,224,963
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Cat
catalase
ISO
protein:decreased expression:plasma
RGD
PMID:20493834
RGD:5130771
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Ccl2
chemokine (C-C motif) ligand 2
ISO
protein:increased expression:nasal turbinate, mucosa (human)
RGD
PMID:9865755
RGD:8548839
NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
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Ccr2
chemokine (C-C motif) receptor 2
ISO
mRNA:increased expression:Nasal Mucosa
RGD
PMID:17982926
RGD:4145109
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr5
chemokine (C-C motif) receptor 5
ISO
mRNA:increased expression:nasal mucosa (human)
RGD
PMID:17982926
RGD:4145109
NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
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Cd40
CD40 antigen
IMP
RGD
PMID:20226305
RGD:5132269
NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
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Cd86
CD86 antigen
ISO
protein:increased expression:nasal mucosa, dendritic cell (human)
RGD
PMID:17088138
RGD:4892343
NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
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Chia1
chitinase, acidic 1
ISO
mRNA, protein:increased expression:turbinate, mucosa (human)
RGD
PMID:20422678
RGD:5037226
NCBI chr 3:106,020,698...106,039,434
Ensembl chr 3:106,020,545...106,039,436
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Egr1
early growth response 1
ISO
DNA:snp:5' utr:g.-4071A>G rs7729723 (human)
RGD
PMID:19833116
RGD:5131984
NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037
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F2rl1
coagulation factor II (thrombin) receptor-like 1
ISO
RGD
PMID:17727088
RGD:4892590
NCBI chr13:95,648,226...95,661,748
Ensembl chr13:95,648,240...95,661,735
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Gstp1
glutathione S-transferase, pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human)
RGD
PMID:17181111
RGD:4142523
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Hmox1
heme oxygenase 1
ISO
mRNA, protein:increased expression: nasal mucosa
RGD
PMID:16540907
RGD:4145406
NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
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Icam1
intercellular adhesion molecule 1
IEP ISO
protein:increased expression:lung, endothelium (mouse) protein:increased secretion:nasopharynx (human)
RGD
PMID:19968652 PMID:19047814
RGD:4145464 , RGD:4145520
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
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Ifngr1
interferon gamma receptor 1
ISO
DNA: SNP: Leu467Pro
RGD
PMID:12851715
RGD:6480431
NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977
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Il13
interleukin 13
ISO
mRNA, protein:increased expression:nasal mucosa
RGD
PMID:8520776
RGD:4782826
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il17a
interleukin 17A
severity
ISO
protein:increased expression:serum
RGD
PMID:19226302
RGD:4889151
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18
interleukin 18
susceptibility
ISO
DNA:SNP:promoter:c. -607A>C (rs1946518) (human)
RGD
PMID:16406079
RGD:4889924
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1a
interleukin 1 alpha
ISO
DNA:polymorphism:exon:c.4845G>T (human)
RGD
PMID:14533660
RGD:4142859
NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
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Il1r1
interleukin 1 receptor, type I
ISO
RGD
PMID:18637763
RGD:5037238
NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417
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Il2
interleukin 2
ISO
protein:decreased expression:serum:
RGD
PMID:17608155
RGD:8662959
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
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Il4
interleukin 4
treatment
ISO
protein:increased expression:serum
RGD
PMID:21171297 PMID:9237816 PMID:15329007
RGD:5128559 , RGD:7829817 , RGD:7829804
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
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Il5
interleukin 5
ISO
protein: increased levels: sputum
RGD
PMID:22186238
RGD:5687140
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:nasal mucosa:
RGD
PMID:19786210
RGD:5130872
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:nasal mucosa:
RGD
PMID:19786210
RGD:5130872
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nos2
nitric oxide synthase 2, inducible
IEP
protein:increased expression:nasal mucosa
RGD
PMID:14587983
RGD:4892078
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
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Nos3
nitric oxide synthase 3, endothelial cell
ISO
DNA:snp:promoter:g.-786T>C (human)
RGD
PMID:18086269
RGD:4892054
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
protein:altered expression:nasal mucosa
RGD
PMID:20185258
RGD:4892593
NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
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Pparg
peroxisome proliferator activated receptor gamma
ISO
mRNA, protein:increased expression:nasal mucosa (human)
RGD
PMID:17116814
RGD:8552811
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
protein:increased expression:respiratory system epithelium
RGD
PMID:19364335
RGD:5147461
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
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Tbxa2r
thromboxane A2 receptor
treatment
ISO
RGD
PMID:15247523
RGD:11059532
NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006
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Adam33
a disintegrin and metallopeptidase domain 33
susceptibility
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:18778489 PMID:15298558
RGD:4145378 , RGD:4145383
NCBI chr 2:130,892,739...130,905,734
Ensembl chr 2:130,892,511...130,905,734
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Ang
angiogenin, ribonuclease, RNase A family, 5
ISO
protein:increased expression:sputum
RGD
PMID:19178538
RGD:6892723
NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466
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Bdkrb1
bradykinin receptor, beta 1
ISO
RGD
PMID:12165532
RGD:5129220
NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687
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Bdkrb2
bradykinin receptor, beta 2
ISO
RGD
PMID:1890650 PMID:11149999
RGD:4891044 , RGD:4891033
NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496
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Bdnf
brain derived neurotrophic factor
susceptibility
ISO
mRNA:increased expression:nasal cavity epithelium DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human)
RGD
PMID:20464992 PMID:21723144
RGD:4891116 , RGD:8655967
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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C3
complement component 3
ISO
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:17345707 PMID:20109314
RGD:5129524 , RGD:5129539
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
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C3ar1
complement component 3a receptor 1
severity
ISO
protein:increased expression:nasal cavity
RGD
PMID:18538384
RGD:5129559
NCBI chr 6:122,824,099...122,833,116
Ensembl chr 6:122,824,097...122,833,120
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C5ar1
complement component 5a receptor 1
ISO
RGD
PMID:18538384
RGD:5129559
NCBI chr 7:15,980,668...15,993,465
Ensembl chr 7:15,980,668...15,993,465
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Casp1
caspase 1
ISO IDA
protein:increased expression:serum
RGD
PMID:12396474 PMID:20974310
RGD:5130192 , RGD:5130187
NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290
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Cat
catalase
treatment
IEP
protein:increased activity:blood,nasal cavity mucosa:
RGD
PMID:21541033
RGD:9479054
NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
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Ccl1
chemokine (C-C motif) ligand 1
ISO
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:17982926
RGD:4145109
NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516
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Ccl11
chemokine (C-C motif) ligand 11
severity
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 chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
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Ccl17
chemokine (C-C motif) ligand 17
ISO
protein:increased expression:blood, mononuclear cell
RGD
PMID:17517104
RGD:4145498
NCBI chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664
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Ccl19
chemokine (C-C motif) ligand 19
IMP
RGD
PMID:17947663
RGD:5130909
NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577
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Ccl22
chemokine (C-C motif) ligand 22
ISO
protein:increased expression:blood, mononuclear cell
RGD
PMID:17517104
RGD:4145498
NCBI chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327
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Ccl24
chemokine (C-C motif) ligand 24
ISO
mRNA:increased expression:nasal cavity epithelium DNA:SNPs: :179T>C, 275C>T (human)
RGD
PMID:17982926 PMID:15580493
RGD:4145109 , RGD:4891493
NCBI chr 5:135,598,789...135,601,977
Ensembl chr 5:135,598,791...135,601,903
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Ccl26
chemokine (C-C motif) ligand 26
ISO
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 5:135,589,302...135,592,423
Ensembl chr 5:135,589,302...135,592,423
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Ccl4
chemokine (C-C motif) ligand 4
ISO
RGD
PMID:19786211
RGD:5130914
NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509
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Ccl7
chemokine (C-C motif) ligand 7
ISO
RGD
PMID:17982926
RGD:4145109
NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351
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Ccl8
chemokine (C-C motif) ligand 8
ISO
RGD
PMID:20625511
RGD:5131089
NCBI chr11:82,006,011...82,007,625
Ensembl chr11:82,006,011...82,007,625
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Ccr2
chemokine (C-C motif) receptor 2
susceptibility
ISO
Rhinitis, Allergic, Seasonal; DNA:SNP:cds:p.V64I (human)
RGD
PMID:17135764
RGD:4145111
NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
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Ccr3
chemokine (C-C motif) receptor 3
ISO
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 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
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Cd14
CD14 antigen
susceptibility resistance
ISO
DNA:polymorphism:promoter:c. -159c>T (human)
RGD
PMID:20109306 PMID:16950285
RGD:4144795 , RGD:4144810
NCBI chr18:36,858,117...36,859,868
Ensembl chr18:36,858,120...36,859,851
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Cd28
CD28 antigen
ISO
RGD
PMID:21356099
RGD:5131612
NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518
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Cd80
CD80 antigen
IEP
RGD
PMID:21108691
RGD:5132622
NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
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Cdc42
cell division cycle 42
ISO
mRNA:increased expression:nasal turbinate
RGD
PMID:19432938
RGD:5688273
NCBI chr 4:137,047,007...137,085,070
Ensembl chr 4:137,047,007...137,085,031
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Cftr
cystic fibrosis transmembrane conductance regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16083808
NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
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Crhr1
corticotropin releasing hormone receptor 1
ISO
mRNA, protein:increased expression:nasal cavity epithelium
RGD
PMID:17597629
RGD:5130940
NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349
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Crhr2
corticotropin releasing hormone receptor 2
ISO
mRNA, protein:increased expression:nasal cavity epithelium
RGD
PMID:17597629
RGD:5130940
NCBI chr 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
protein:increased expression:T cell
RGD
PMID:17625281
RGD:4891512
NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
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Cx3cl1
chemokine (C-X3-C motif) ligand 1
ISO
protein:increased expression:plasma
RGD
PMID:14657873
RGD:4891906
NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
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Cxcl5
chemokine (C-X-C motif) ligand 5
ISO
protein:increased expression:nasal mucus
RGD
PMID:20659080
RGD:4892030
NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483
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Cyp2d22
cytochrome P450, family 2, subfamily d, polypeptide 22
ISO
DNA:SNP:3' utr:*1934G>A (human)
RGD
PMID:20088379
RGD:5143945
NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461
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Cysltr1
cysteinyl leukotriene receptor 1
IMP ISO
associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium
RGD
PMID:17627772 PMID:16689996 PMID:18946234 PMID:15379985
RGD:4781451 , RGD:4783198 , RGD:4888516 , RGD:4847512
NCBI chr X:105,617,952...105,647,329
Ensembl chr X:105,617,952...105,647,285
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Cysltr2
cysteinyl leukotriene receptor 2
ISO
associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium
RGD
PMID:16689996
RGD:4783198
NCBI chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554
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Fcer1a
Fc receptor, IgE, high affinity I, alpha polypeptide
ISO
RGD
PMID:20650300
RGD:5128714
NCBI chr 1:173,048,836...173,054,799
Ensembl chr 1:173,048,851...173,054,781
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Fis1
fission, mitochondrial 1
ISO
mRNA, protein:increased expression:nasal cavity mucosa (rat)
RGD
PMID:28146064
RGD:13204839
NCBI chr 5:136,982,129...136,995,088
Ensembl chr 5:136,982,129...136,995,088
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H2-Aa
histocompatibility 2, class II antigen A, alpha
susceptibility
ISO
DNA:polymorphisms:cds:HLA-DQA1*0201, HLA-DQA1*0302 (human)
RGD
PMID:14990915
RGD:5147798
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0602 (human)
RGD
PMID:14990915
RGD:5147798
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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Hdc
histidine decarboxylase
ISO
DNA:SNP: :p.E644D (rs2073440) (human)
RGD
PMID:20608921 PMID:15054596
RGD:5128884 , RGD:5143921
NCBI chr 2:126,435,579...126,465,942
Ensembl chr 2:126,435,587...126,461,219
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Hnmt
histamine N-methyltransferase
no_association
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17651147 PMID:17651147
RGD:5128885
NCBI chr 2:23,892,923...23,939,756
Ensembl chr 2:23,892,922...23,939,406
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Hrh1
histamine receptor H1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12167471
NCBI chr 6:114,374,897...114,459,432
Ensembl chr 6:114,374,897...114,460,257
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Il13
interleukin 13
susceptibility disease_progression
ISO IMP
DNA:polymorphism: :rs1800925 (human) associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human) mRNA:increased expression:nose
RGD
PMID:20484924 PMID:20358028 PMID:20696593 PMID:16120094 PMID:17088137
RGD:4145534 , RGD:4145767 , RGD:4145454 , RGD:4206706 , RGD:4159171
NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529
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Il13ra2
interleukin 13 receptor, alpha 2
IDA
RGD
PMID:17088137
RGD:4159171
NCBI chr X:146,166,474...146,214,982
Ensembl chr X:146,166,472...146,212,188
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Il15
interleukin 15
IDA
RGD
PMID:16750998
RGD:5000756
NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851
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Il16
interleukin 16
ISO IEP
protein:increased expression:serum protein:increased expression:nasal cavity epithelium, serum
RGD
PMID:18254318 PMID:19295235
RGD:5024932 , RGD:5024931
NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934
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Il17a
interleukin 17A
ISO
protein:increased expression:nasal mucosa
RGD
PMID:20506642 PMID:19927541
RGD:4889137 , RGD:4889144
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
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Il18
interleukin 18
disease_progression
ISO IEP
rhinitis allergic, seasonal; protein:increased expression:plasma protein:increased expression:serum protein:increased expression:nasal lavage fluid, bronchoalveolar lavage fluid
RGD
PMID:15934281 PMID:17323858 PMID:17305282
RGD:4889927 , RGD:4889916 , RGD:4889917
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
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Il1b
interleukin 1 beta
susceptibility
ISO
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 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il1rl1
interleukin 1 receptor-like 1
severity
ISO
associated with Sinusitis;DNA:SNPs: :multiple (human)
RGD
PMID:19671251
RGD:5144228
NCBI chr 1:40,444,025...40,504,578
Ensembl chr 1:40,468,730...40,504,575
G
Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
associated with Hypersensitivity;DNA:repeat:intron (human)
RGD
PMID:14533660 PMID:15178892 PMID:10224452
RGD:4142859 , RGD:4143215 , RGD:4143227
NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506
G
Il2
interleukin 2
susceptibility
ISO
DNA:SNP:promoter:rs2069762(human)
RGD
PMID:16333313
RGD:8663473
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
G
Il21
interleukin 21
IDA
RGD
PMID:17982108
RGD:5147397
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
G
Il22
interleukin 22
severity
ISO
mRNA:increased expression:blood, mononuclear cell
RGD
PMID:21535180
RGD:5147409
NCBI chr10:118,040,456...118,045,952
Ensembl chr10:118,040,847...118,045,952
G
Il22b
interleukin 22B
severity
ISO
mRNA:increased expression:blood, mononuclear cell
RGD
PMID:21535180
RGD:5147409
NCBI chr10:118,125,534...118,130,943
Ensembl chr10:118,125,534...118,130,943
G
Il23r
interleukin 23 receptor
susceptibility
ISO
DNA:SNP,haplotype: :rs7517847(human)
RGD
PMID:23696856
RGD:8549605
NCBI chr 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839
G
Il27ra
interleukin 27 receptor, alpha
IMP
RGD
PMID:19354069
RGD:5128480
NCBI chr 8:84,756,915...84,769,250
Ensembl chr 8:84,756,923...84,769,218
G
Il4
interleukin 4
IEP ISO
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 chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
G
Il4ra
interleukin 4 receptor, alpha
ISO
DNA:polymorphism: :c.1432T>C (human)
RGD
PMID:15564773
RGD:4890394
NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646
G
Il5
interleukin 5
IMP
RGD
PMID:11884474
RGD:5128622
NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933
G
Il9
interleukin 9
ISO
RGD
PMID:20525149
RGD:5128687
NCBI chr13:56,627,090...56,630,070
Ensembl chr13:56,627,090...56,630,059
G
Lep
leptin
ISO
RGD
PMID:19860581
RGD:5128850
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
G
Mbl2
mannose-binding lectin (protein C) 2
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:18831943
RGD:8693717
NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087
G
Mfn1
mitofusin 1
ISO
mRNA, protein:increased expression:nasal cavity mucosa (rat)
RGD
PMID:28146064
RGD:13204839
NCBI chr 3:32,583,594...32,633,384
Ensembl chr 3:32,583,614...32,633,388
G
Mif
macrophage migration inhibitory factor (glycosylation-inhibiting factor)
severity
IMP ISO
protein:increased expression:serum, nasal mucosa
RGD
PMID:15922619 PMID:15053202
RGD:4891056 , RGD:4891045
NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074
G
Ms4a2
membrane-spanning 4-domains, subfamily A, member 2
ISO
RGD
PMID:15480314
RGD:5131152
NCBI chr19:11,592,881...11,601,154
Ensembl chr19:11,592,887...11,601,083
G
Muc5ac
mucin 5, subtypes A and C, tracheobronchial/gastric
ISO
mRNA:increased expression:nose
RGD
PMID:20696593 PMID:15715404
RGD:4145454 , RGD:7364740
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
G
Ngf
nerve growth factor
ISO
protein:increased expression:respiratory system fluid/secretion associated with Sinusitis;protein:increased expression:respiratory system mucosa
RGD
PMID:10224365 PMID:19958603
RGD:4891115 , RGD:4891064
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
G
Ngfr
nerve growth factor receptor (TNFR superfamily, member 16)
ISO
protein:increased expression:blood, eosinophil
RGD
PMID:18647313
RGD:5144116
NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561
G
Nod1
nucleotide-binding oligomerization domain containing 1
ISO
mRNA:decreased expression:nose
RGD
PMID:20384614
RGD:5131446
NCBI chr 6:54,900,927...54,949,655
Ensembl chr 6:54,900,934...54,949,597
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 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
G
Nos2
nitric oxide synthase 2, inducible
ISO
protein:increased expression:nasal mucosa
RGD
PMID:18254476
RGD:4891910
NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
G
Npy
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12746121
NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487
G
Ntrk1
neurotrophic tyrosine kinase, receptor, type 1
ISO
protein:increased expression:eosinophil
RGD
PMID:18647313
RGD:5144116
NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
G
Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
mRNA, protein:increased expression:nasal cavity mucosa (rat)
RGD
PMID:28146064
RGD:13204839
NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702
G
Plau
plasminogen activator, urokinase
IEP
mRNA:increased expression:nasal cavity epithelium
RGD
PMID:21339035
RGD:8547809
NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
G
Ptgdr2
prostaglandin D2 receptor 2
IMP ISO
RGD
PMID:19608418 PMID:19230460
RGD:5135017 , RGD:5135021
NCBI chr19:10,901,883...10,919,875
Ensembl chr19:10,914,524...10,919,875
G
Scgb3a2
secretoglobin, family 3A, member 2
ISO
protein:increased expression:sputum mRNA,protein:decreased expression:nasal mucosa
RGD
PMID:17218572 PMID:21385388
RGD:5144232 , RGD:5147389
NCBI chr18:43,897,346...43,900,464
Ensembl chr18:43,897,354...43,900,464
G
Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
susceptibility
ISO
DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:19063817
RGD:4144832
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
G
Sftpd
surfactant associated protein D
susceptibility
ISO
associated with Hypersensitivity;DNA:polymorphism: :p.M11T (human)
RGD
PMID:19493231
RGD:4143494
NCBI chr14:40,894,169...40,907,155
Ensembl chr14:40,894,171...40,907,106
G
Tap1
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
susceptibility no_association
ISO
DNA:SNPs: :
RGD
PMID:17982230 PMID:12018331
RGD:6482262 , RGD:6482274
NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199
G
Tbxa2r
thromboxane A2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12167471
NCBI chr10:81,164,102...81,171,008
Ensembl chr10:81,164,565...81,171,006
G
Tgfb1
transforming growth factor, beta 1
ISO
associated with Sinusitis
RGD
PMID:18423831
RGD:4145277
NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502
G
Tlr2
toll-like receptor 2
susceptibility no_association
ISO
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 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
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Tlr6
toll-like receptor 6
ISO
associated with Asthma;DNA:SNP: :rs2381289 (human)
RGD
PMID:20815312
RGD:4145352
NCBI chr 5:65,109,379...65,128,387
Ensembl chr 5:65,109,374...65,117,440
G
Tnf
tumor necrosis factor
ISO
mRNA:increased expression:nose
RGD
PMID:15120189 PMID:20696593
RGD:4143470 , RGD:4145454
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:sputum
RGD
PMID:19178538
RGD:6892723
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
G
Vip
vasoactive intestinal polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12746121 PMID:14680090
NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617
G
Anxa1
annexin A1
ISO
associated with Nasal Polyps
RGD
PMID:22279949
RGD:7421555
NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
G
C3
complement component 3
ISO
protein:increased expression:serum
RGD
PMID:19593977
RGD:4889484
NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
G
C4a
complement component 4A (Rodgers blood group)
disease_progression
ISO
DNA:deletion: :
RGD
PMID:16879240
RGD:5688262
NCBI chr17:35,028,069...35,042,436
Ensembl chr17:35,028,069...35,042,440
G
Ccl20
chemokine (C-C motif) ligand 20
ISO
RGD
PMID:16702571
RGD:7483585
NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
G
Hgf
hepatocyte growth factor
susceptibility
ISO
DNA:haplotype::rs38850,rs38855,rs38857(human)
RGD
PMID:20416453
RGD:8548615
NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
G
Igf1
insulin-like growth factor 1
IEP
mRNA:increased expression:nose:
RGD
PMID:20713758
RGD:8548883
NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
G
Il10
interleukin 10
ISO
protein:decreased expression:blood, mononuclear cell
RGD
PMID:23168151
RGD:7364820
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
G
Il17a
interleukin 17A
ISO
associated with Asthma;mRNA, protein:increased expression:nasal polyps (human)
RGD
PMID:19672092
RGD:4889146
NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
G
Il1b
interleukin 1 beta
ISO
protein:increased expression:nasal cavity epithelium
RGD
PMID:11197112
RGD:7401169
NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
G
Il22ra1
interleukin 22 receptor, alpha 1
susceptibility
ISO
DNA:SNPs:5' utr, intron: (rs4292900, rs16829225, rs4648936) (human)
RGD
PMID:19393422
RGD:5147411
NCBI chr 4:135,455,470...135,482,694
Ensembl chr 4:135,455,483...135,479,451
G
Il4
interleukin 4
treatment
ISO
associated with Asthma
RGD
PMID:12787306
RGD:7829803
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:23401274
RGD:8547880
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
G
Muc5ac
mucin 5, subtypes A and C, tracheobronchial/gastric
treatment
ISO
RGD
PMID:23131200 PMID:19389874
RGD:7349403 , RGD:7364734
NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968
G
Prkra
protein kinase, interferon inducible double stranded RNA dependent activator
severity
ISO
associated with Nasal Polyps
RGD
PMID:22961479
RGD:7777146
NCBI chr 2:76,436,385...76,478,614
Ensembl chr 2:76,460,242...76,478,359
G
Serpine1
serine (or cysteine) peptidase inhibitor, clade E, member 1
ISO
protein:increased expression:nasal mucosa (human)
RGD
PMID:21711960
RGD:6483796
NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
G
Tlr2
toll-like receptor 2
susceptibility
ISO
mRNA,protein:increased expression:paranasal sinus DNA:polymorphisms:: rs3804099,rs3804100(human)
RGD
PMID:22182736 PMID:21493395
RGD:7800733 , RGD:8552975
NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074
G
Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:paranasal sinus
RGD
PMID:22182736
RGD:7800733
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
G
Tnf
tumor necrosis factor
ISO IDA
protein:increased expression:nasal cavity epithelium
RGD
PMID:11197112 PMID:20147558
RGD:7401169 , RGD:7401236
NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
G
H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 (human)
RGD
PMID:15577839
RGD:5147654
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
G
Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:16677242
RGD:5147463
NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139
G
Apoa4
apolipoprotein A-IV
resistance
ISO
protein:increased expression:blood serum (human)
RGD
PMID:20810159
RGD:5685642
NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
G
Bdnf
brain derived neurotrophic factor
severity
ISO
protein:increased expression:blood, nasal cavity epithelium
RGD
PMID:18266897
RGD:5144117
NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
G
Ccl5
chemokine (C-C motif) ligand 5
ISO
protein:increased expression:inferior turbinate, epithelium (human)
RGD
PMID:20459697
RGD:4891379
NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
G
Cma1
chymase 1, mast cell
ISO
protein:increased expression:nasal mucosa, mast cell (human)
RGD
PMID:11549546
RGD:5128839
NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132
G
Fga
fibrinogen alpha chain
ISO
RGD
PMID:21887273
RGD:5688767
NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934
G
Gsto1
glutathione S-transferase omega 1
ISO
protein:decreased expression;T lymphocyte:
RGD
PMID:21410266
RGD:5491008
NCBI chr19:47,843,412...47,853,229
Ensembl chr19:47,843,409...47,853,229
G
H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
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 chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased secretion:nasopharynx, secretion (human)
RGD
PMID:20128420
RGD:4145459
NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
G
Ifngr1
interferon gamma receptor 1
ISO
DNA: SNP: Leu467Pro
RGD
PMID:12851715
RGD:6480431
NCBI chr10:19,467,697...19,485,977
Ensembl chr10:19,467,697...19,485,977
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:19505388
RGD:7365025
NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
G
Il18
interleukin 18
susceptibility no_association
ISO
DNA:SNPs:promoters, exon:multiple DNA:SNPs:promoters:multiple
RGD
PMID:12532106 PMID:12532106
RGD:8655871 , RGD:8655871
NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
G
Il4
interleukin 4
ISO
protein:increased expression:serum mRNA:increased expression:nose:
RGD
PMID:9237816 PMID:7551298
RGD:7829817 , RGD:8662960
NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
G
Kdr
kinase insert domain protein receptor
ISO
protein:increased expression:nasal cavity of mucosa:
RGD
PMID:17651148
RGD:8551771
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
G
Mc1r
melanocortin 1 receptor
no_association
IEP
RGD
PMID:20357480
RGD:5687317
NCBI chr 8:124,133,839...124,137,483
Ensembl chr 8:124,133,846...124,137,483
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 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
G
Nod1
nucleotide-binding oligomerization domain containing 1
susceptibility
ISO
DNA:SNP: :rs2075817 (human)
RGD
PMID:16918516
RGD:5131519
NCBI chr 6:54,900,927...54,949,655
Ensembl chr 6:54,900,934...54,949,597
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 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102
G
Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
protein:increased expression:respiratory system epithelium
RGD
PMID:19364335
RGD:5147461
NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
G
Scgb1a1
secretoglobin, family 1A, member 1
ISO
mRNA, protein:decreased expression:nasal lavage fluid
RGD
PMID:15836756
RGD:5144234
NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322
G
Tlr3
toll-like receptor 3
ISO
protein:decreased expression:bone marrow, blood, eosinophil (human)
RGD
PMID:19752565
RGD:5129130
NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117
G
Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphisms:cds:p.D299G, T399I (human)
RGD
PMID:18517079
RGD:4144192
NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
G
Vegfa
vascular endothelial growth factor A
ISO
mRNA,protein:increased expression:nasal biopsies,nasal lavage fluid:
RGD
PMID:12633568
RGD:7483595
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
G
Maml3
mastermind like transcriptional coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859338
NCBI chr 3:51,595,032...52,012,740
Ensembl chr 3:51,593,328...52,012,497
G
Pax3
paired box 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859338
NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771
G
Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
RGD
PMID:30120966
RGD:127285653
NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all