RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: respiratory allergy
Accession: DOID:0060496
browse the term
Definition: An allergic disease that is located_in the respiratory tract. (DO)
Synonyms: exact_synonym: airway allergy; airway hyper responsiveness; respiratory hypersensitivities; respiratory hypersensitivity
related_synonym: allergic lung disease
primary_id: MESH:D012130
For additional species annotation, visit the
Alliance of Genome Resources .
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Ccl11
C-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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Ccl6
C-C motif chemokine ligand 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr10:70,798,118...70,802,750
Ensembl chr10:70,797,124...70,802,782
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Ccr3
C-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20022477
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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Cldn4
claudin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30608172
NCBI chr12:24,761,210...24,763,008
Ensembl chr12:24,761,210...24,763,005
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Cldn5
claudin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30608172
NCBI chr11:86,356,292...86,357,718
Ensembl chr11:86,356,294...86,357,718
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23056391
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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Cxcl3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23056391
NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
mRNA:increased expression:lung
RGD
PMID:18417511
RGD:5135242
NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
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F2rl1
F2R like trypsin receptor 1
ISO
RGD
PMID:20186875
RGD:4892588
NCBI chr 2:25,222,324...25,235,275
Ensembl chr 2:25,222,328...25,235,275
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Hrh1
histamine receptor H 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12095164
NCBI chr 4:146,374,596...146,458,148
Ensembl chr 4:146,455,332...146,457,074
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Hspa5
heat shock protein family A (Hsp70) member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211530
NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
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Il10
interleukin 10
ISO
RGD
PMID:20583974
RGD:4140460
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il13
interleukin 13
susceptibility
ISO
mRNA:increased expression:lung DNA:SNP, missense mutation:promoter, exon:-1112C>T, p.R130Q (human)
RGD
PMID:19564030 , PMID:18849614
RGD:4145637 , RGD:8549507
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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Il15
interleukin 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18394133
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:12663678
RGD:4143222
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il1b
interleukin 1 beta
ISO
RGD
PMID:12663678
RGD:4143222
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il1rl1
interleukin 1 receptor-like 1
ISO
associated with Fungal Lung Diseases
RGD
PMID:25746970
RGD:39938968
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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Il1rn
interleukin 1 receptor antagonist
ISO
RGD
PMID:12663678
RGD:4143222
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il27
interleukin 27
ISO
RGD
PMID:20817868
RGD:4145651
NCBI chr 1:198,003,615...198,010,112
Ensembl chr 1:198,003,683...198,008,893
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Il33
interleukin 33
treatment
ISO
RGD
PMID:25424936
RGD:40400692
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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Il4
interleukin 4
ISO
associated with Pneumonia, Pneumocystis carinii CTD Direct Evidence: marker/mechanism
CTD
PMID:18394133 , PMID:21343358
RGD:5128506
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18394133
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:intron:1011G>A(human)
RGD
PMID:16487239
RGD:8693711
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Mt1
metallothionein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
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Mt2A
metallothionein 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
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Nos2
nitric oxide synthase 2
treatment
ISO IDA
RGD
PMID:19800904 , PMID:21983654
RGD:4891497 , RGD:8549812
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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Nos3
nitric oxide synthase 3
ISO
DNA:polymorphism: :c. -786C>T (human)
RGD
PMID:18086269
RGD:4892054
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18441283
NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
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Serpine1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211530
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Slc30a4
solute carrier family 30 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr 3:114,805,919...114,828,154
Ensembl chr 3:114,805,922...114,828,154
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Slc39a1
solute carrier family 39 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr 2:189,609,766...189,615,367
Ensembl chr 2:189,609,800...189,615,366
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Slc39a14
solute carrier family 39 member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr15:51,982,872...52,029,841
Ensembl chr15:51,982,982...52,029,816
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Slc39a4
solute carrier family 39 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17085522
NCBI chr 7:117,675,718...117,682,586
Ensembl chr 7:117,675,720...117,680,004
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Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphisms,haplotype: :−2027A>G, ¿1608T>C(human) CTD Direct Evidence: marker/mechanism
CTD
PMID:10835634 , PMID:21704886
RGD:7800728
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18394133
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Tslp
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28329851
NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
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Upp1
uridine phosphorylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24211530
NCBI chr14:89,314,234...89,334,060
Ensembl chr14:89,314,176...89,334,276
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30608172
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Ccl26
C-C motif chemokine ligand 26
treatment
ISO
RGD
PMID:25530546
RGD:11081163
NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
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Cysltr1
cysteinyl leukotriene receptor 1
treatment
ISO
RGD
PMID:23933317
RGD:40903070
NCBI chr X:77,671,028...77,700,491
Ensembl chr X:77,674,150...77,700,269
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Epx
eosinophil peroxidase
ISO
protein:increased expression:urine:
RGD
PMID:11846868
RGD:13506893
NCBI chr10:75,160,690...75,171,774
Ensembl chr10:75,160,690...75,171,774
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Il25
interleukin 25
treatment
ISO
RGD
PMID:17889290
RGD:40902975
NCBI chr15:33,594,852...33,599,692
Ensembl chr15:33,596,301...33,599,685
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RT1-B
RT1 class II, locus B
susceptibility
ISO
DNA:polymorphism:
RGD
PMID:28380482
RGD:13506910
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
RGD
PMID:22397267
RGD:13506905
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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RT1-Ha
RT1 class II, locus Ha
susceptibility
ISO
DNA:polymorphism:
RGD
PMID:28380482
RGD:13506910
NCBI chr20:3,875,478...3,885,140
Ensembl chr20:3,875,706...3,881,461
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Ccl17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
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Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:15951834
RGD:5688155
NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10946288
RGD:8661731
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Cftr
CF transmembrane conductance regulator
ISO
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:7743671
RGD:8547590
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Il1a
interleukin 1 alpha
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Mbl2
mannose binding lectin 2
susceptibility
ISO
Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) DNA:SNP:intron:1011G>A(human)
RGD
PMID:11474427 , PMID:16487239
RGD:4889577 , RGD:8693711
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human)
RGD
PMID:23278646
RGD:36049760
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :
RGD
PMID:23278646
RGD:36049760
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Tlr9
toll-like receptor 9
susceptibility
ISO
DNA:SNP:promoter:g.-1237T>C rs5743836 (human)
RGD
PMID:18275280 , PMID:18936185
RGD:5130863 , RGD:5130858
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Tnf
tumor necrosis factor
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Tnfrsf1a
TNF receptor superfamily member 1A
susceptibility
ISO
DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human)
RGD
PMID:20646338
RGD:5131174
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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Abcb1a
ATP binding cassette subfamily B member 1A
severity
ISO
DNA:snp:exon:c.1236C>T (human)
RGD
PMID:24040855
RGD:8657076
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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Ace
angiotensin I converting enzyme
no_association
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:15112973
RGD:8142345
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Bcl2
BCL2, apoptosis regulator
IEP
mRNA, protein:increased expression:nasal mucosa (rat)
RGD
PMID:15362690
RGD:11522724
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29028686
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Ccl11
C-C motif chemokine ligand 11
treatment
IDA
RGD
PMID:23089405
RGD:7248414
NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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Ccl26
C-C motif chemokine ligand 26
ISO
protein:increased expression:oronasal secretion (human)
RGD
PMID:23883806
RGD:7364793
NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
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Cd40
CD40 molecule
ISO
protein:increased expression:lymphocyte
RGD
PMID:19086656
RGD:8547782
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Cd40lg
CD40 ligand
ISO
protein:increased expression:lymphocyte
RGD
PMID:19086656
RGD:8547782
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
treatment
ISO
RGD
PMID:10436391
RGD:11344920
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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F2
coagulation factor II
ISO
protein:increased expression:nasal mucus
RGD
PMID:21711961
RGD:5147783
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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Fcgr3a
Fc fragment of IgG receptor IIIa
susceptibility
ISO
DNA:polymorphism:exon:p.F158V(rs396991)(human)
RGD
PMID:18199088
RGD:5508449
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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Hrh1
histamine receptor H 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23333628
NCBI chr 4:146,374,596...146,458,148
Ensembl chr 4:146,455,332...146,457,074
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Ifng
interferon gamma
treatment
ISO IDA
associated with Asthma
RGD
PMID:12787306 , PMID:18510219
RGD:7829803 , RGD:10755770
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Il10
interleukin 10
treatment
ISO
RGD
PMID:23883806 , PMID:23253209
RGD:7364793 , RGD:7364818
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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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
PMID:17091279 , PMID:22852128 , PMID:12928861 , PMID:23996716
RGD:4152796 , RGD:8549518 , RGD:8549516 , RGD:8549501
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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Il13ra2
interleukin 13 receptor subunit alpha 2
ISO
protein:increased expression:serum
RGD
PMID:21462799
RGD:8549521
NCBI chr X:118,443,955...118,514,716
Ensembl chr X:118,443,823...118,513,061
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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 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1b
interleukin 1 beta
ISO
protein:increased expression:nasal mucus
RGD
PMID:7750009
RGD:7401199
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il2
interleukin 2
IEP
RGD
PMID:12592663
RGD:8662963
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il4
interleukin 4
treatment
ISO IEP
RGD
PMID:9893928 , PMID:24620662 , PMID:8908280 , PMID:14653048
RGD:7829796 , RGD:11522769 , RGD:7829827 , RGD:7829802
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il5
interleukin 5
treatment
IEP
RGD
PMID:23934070 , PMID:24620662
RGD:11354976 , RGD:11522769
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
IEP
mRNA, protein:increased expression:nasal cavity epithelium
RGD
PMID:22972875
RGD:7364746
NCBI chr 1:214,725,482...214,756,653
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Nod2
nucleotide-binding oligomerization domain containing 2
ISO
mRNA:increased expression:nasal mucosa (human)
RGD
PMID:23858718
RGD:8547523
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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Pon1
paraoxonase 1
severity
ISO
protein:decreased activity:plasma (human)
RGD
PMID:23406590
RGD:8547583
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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Prkg1
protein kinase cGMP-dependent 1
IEP
protein:increased expression:nasal cavity epithelium
RGD
PMID:24012634
RGD:7775060
NCBI chr 1:248,982,039...250,300,952
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16979129
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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RT1-M3-1
RT1 class Ib, locus M3, gene 1
ISO
RGD
PMID:20487636
RGD:5144132
NCBI chr20:1,814,661...1,833,033
Ensembl chr20:1,814,661...1,818,800
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Scgb1a1
secretoglobin family 1A member 1
ISO
mRNA:decreased expression:nasal mucosa, lung
RGD
PMID:17882576
RGD:5144135
NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
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Scgb3a2
secretoglobin, family 3A, member 2
susceptibility
ISO
DNA:SNP: :rs7726552 (human)
RGD
PMID:21410962
RGD:5144225
NCBI chr18:38,292,822...38,295,744
Ensembl chr18:38,292,701...38,295,831
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Serpine1
serpin family E member 1
ISO
mRNA:increased expression:nasal mucosa (mouse)
RGD
PMID:21339035
RGD:8547809
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Tacr1
tachykinin receptor 1
IEP
mRNA:increased expression:nasal mucosa
RGD
PMID:12768696
RGD:5147835
NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
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Tgfb1
transforming growth factor, beta 1
treatment
IEP
RGD
PMID:31368266
RGD:14995445
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Tlr2
toll-like receptor 2
severity
ISO
DNA:polymorphism:cds:p.R753Q(human) protein:increased expression:neutrophil: mRNA:decreased expression:nasal mucosa:
RGD
PMID:22402138 , PMID:22555057 , PMID:18381801 , PMID:18219831
RGD:7800732 , RGD:8552993 , RGD:8552972 , RGD:7800742
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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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
RGD:7800732 , RGD:8552993 , RGD:7800740 , RGD:7800738 , RGD:7800736 , RGD:4145354
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tlr9
toll-like receptor 9
ISO
protein:decreased expression:nasal mucosa:
RGD
PMID:22577387
RGD:7800740
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Cyp2c6v1
cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1
treatment
ISO
associated with Eosinophilic Esophagitis; DNA:polymorphisms::
RGD
PMID:26416193
RGD:11352743
NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
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Il3
interleukin 3
susceptibility
ISO
DNA:SNP: :rs40401(human)
RGD
PMID:23953855
RGD:13506915
NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
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Cacng6
calcium voltage-gated channel auxiliary subunit gamma 6
susceptibility
ISO
DNA:SNP,haplotype:rs192808(human)
RGD
PMID:20860846
RGD:13524562
NCBI chr 1:64,307,684...64,322,124
Ensembl chr 1:64,305,438...64,321,241
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Ccr3
C-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159 , PMID:20022477
RGD:4145619
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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Cysltr1
cysteinyl leukotriene receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481 PMID:17641958 PMID:20485159
NCBI chr X:77,671,028...77,700,491
Ensembl chr X:77,674,150...77,700,269
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Cysltr2
cysteinyl leukotriene receptor 2
ISO
DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481 PMID:20485159 , PMID:15970796
RGD:5144000
NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
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Fancc
FA complementation group C
ISO
DNA:haplotype::rs4647416(human)
RGD
PMID:21670957
RGD:11045795
NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
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Il4
interleukin 4
susceptibility
ISO
DNA:SNPs:promoter,5'UTR,intron:multiple
RGD
PMID:20921925
RGD:11528633
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Ltc4s
leukotriene C4 synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9393345 PMID:9466979 PMID:10970818 PMID:20485159
NCBI chr10:35,736,486...35,743,088
Ensembl chr10:35,737,664...35,739,625
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Ms4a2
membrane spanning 4-domains A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr 1:227,957,363...227,965,312
Ensembl chr 1:227,957,302...227,965,386
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Postn
periostin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18391768
NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
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Ptgdr2
prostaglandin D2 receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 1:226,976,455...226,995,641
Ensembl chr 1:226,993,250...226,994,849
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Ptger2
prostaglandin E receptor 2
ISO
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15496426 PMID:16502481
NCBI chr15:19,336,029...19,349,759
Ensembl chr15:19,338,175...19,350,210
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Ptgir
prostaglandin I2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 1:78,833,449...78,835,832
Ensembl chr 1:78,833,157...78,837,623
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:mast cell CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481 PMID:20485159 , PMID:9487340
RGD:5143936
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
RGD
PMID:25975240
RGD:11074090
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
RGD
PMID:25975240
RGD:11074090
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
RGD
PMID:25975240
RGD:11074090
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Tap2
transporter 2, ATP binding cassette subfamily B member
ISO
RGD
PMID:21796142
RGD:5147839
NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587 Ensembl chr20:3,995,544...4,009,587
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Tbx21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15806396 PMID:16502481
NCBI chr10:85,032,799...85,049,331
Ensembl chr10:85,032,799...85,049,331
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Tbxa2r
thromboxane A2 receptor
susceptibility
ISO
DNA:polymorphism: :795T>C (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481 PMID:20485159 , PMID:15898979
RGD:11059537
NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
protein:increased expression:blood, lymphocyte
RGD
PMID:19484671
RGD:4890020
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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Abcc1
ATP binding cassette subfamily C member 1
ISO
RGD
PMID:18931056
RGD:5128825
NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
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Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
no_association
ISO
RGD
PMID:19771478 , PMID:16008680
RGD:5128835 , RGD:5128831
NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
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Ace
angiotensin I converting enzyme
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:19484664 , PMID:19383228
RGD:4140913 , RGD:4140919
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Acsl3
acyl-CoA synthetase long-chain family member 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:19221603
RGD:13831295
NCBI chr 9:84,569,601...84,593,565
Ensembl chr 9:84,569,597...84,593,565
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Ada
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms (human)
RGD
PMID:16754522
RGD:5128848
NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
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Adam33
ADAM metallopeptidase domain 33
susceptibility no_association disease_progression
ISO
mRNA:increased expression:lung DNA:polymorphism: :p.M764T (human) DNA:SNPs:introns,exon:7575G>A, 11188A>T, 12433T>C (human) mRNA:increased expression:bronchus DNA:SNPs (human) DNA:SNPs: :multiple (human)
RGD GAD
PMID:19635592 , PMID:17961406 , PMID:16893396 , PMID:15118671 , PMID:17339047 , PMID:19940503 , PMID:18778489
RGD:4145360 , RGD:4145379 , RGD:4145382 , RGD:1331525 , RGD:4145380 , RGD:4145359 , RGD:4145378
NCBI chr 3:123,595,018...123,607,549
Ensembl chr 3:123,595,560...123,607,352
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Adam8
ADAM metallopeptidase domain 8
severity
ISO
mRNA:increased expression:bronchus mRNA:increased expression:respiratory tract
RGD
PMID:17339047 , PMID:20194813 , PMID:19373511
RGD:4145380 , RGD:5128872 , RGD:5128878
NCBI chr 1:212,317,510...212,332,895
Ensembl chr 1:212,317,848...212,330,349
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Adcy2
adenylate cyclase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr 1:37,043,071...37,698,390
Ensembl chr 1:37,507,276...37,698,390
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Adcyap1r1
ADCYAP receptor type I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21059121
NCBI chr 4:85,662,809...85,711,696
Ensembl chr 4:85,662,892...85,711,696
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Adh5
alcohol dehydrogenase 5 (class III), chi polypeptide
susceptibility
ISO
protein:increased expression:respiratory system fluid/secretion DNA:SNPs: :rs1154404, rs28730619 (human)
RGD
PMID:19395503 , PMID:17543375 , PMID:19514054 , PMID:15919956
RGD:5128891 , RGD:5128882 , RGD:5128890 , RGD:5128892
NCBI chr 2:243,728,500...243,740,907
Ensembl chr 2:243,700,784...243,740,899
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:19168697
RGD:5686821
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Adora1
adenosine A1 receptor
ISO
DNA:SNPs: :1405C>T (human) protein:increased expression:bronchus
RGD
PMID:19019667 , PMID:20400685 , PMID:17959644
RGD:4890386 , RGD:4145444 , RGD:5129097
NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
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Adora2a
adenosine A2a receptor
ISO
mRNA:decreased expression:aorta DNA:SNP (human)
RGD
PMID:17293374 , PMID:18310516 , PMID:19019667 , PMID:16339780
RGD:4890380 , RGD:4890366 , RGD:4890386 , RGD:4890385
NCBI chr20:14,265,251...14,282,873
Ensembl chr20:14,265,252...14,282,873
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Adrb2
adrenoceptor beta 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to DNA:SNP: :-1023A>G (human) DNA:SNPs: :p.R16G, p.Q27E (human) DNA:SNPs:promoter:multiple (human) DNA:polymorphism: :p.R16G (human) DNA:SNP: :p.Q27E (human)
CTD OMIM ClinVar
PMID:8383511 PMID:15284533 PMID:16596417 , PMID:1655856 , PMID:15118671 , PMID:19638684 , PMID:18785519 , PMID:19423772 , PMID:20443840 , PMID:19029431 , PMID:20004781 , PMID:19800676 , PMID:18569231
RGD:5129113 , RGD:1331525 , RGD:4145081 , RGD:4145094 , RGD:4145107 , RGD:4145108 , RGD:4145092 , RGD:4145105 , RGD:4145061 , RGD:4145096
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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Ager
advanced glycosylation end product-specific receptor
treatment onset
ISO IDA IEP
protein:decreased expression:lung (rat)
RGD
PMID:21920897 , PMID:23304218 , PMID:23304218
RGD:6767554 , RGD:7244279 , RGD:7244279
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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Agtr1a
angiotensin II receptor, type 1a
ISO IMP
RGD
PMID:17877756 , PMID:19080339
RGD:5147452 , RGD:5147457
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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Agtr2
angiotensin II receptor, type 2
IEP
mRNA, protein:increased expression:lung
RGD
PMID:19080339
RGD:5147457
NCBI chr X:119,389,480...119,393,845
Ensembl chr X:119,390,013...119,393,842
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Aldh2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9600491 PMID:11506308 , PMID:15118671
RGD:1331525
NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
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Alox15
arachidonate 15-lipoxygenase
ISO
protein:increased expression:lung
RGD
PMID:19628725 , PMID:18692885
RGD:5509605 , RGD:5509784
NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
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Alox5
arachidonate 5-lipoxygenase
no_association susceptibility treatment severity
ISO
DNA:polymorphism:promoter (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:blood, leukocyte protein:increased expression:lung DNA:repeat:promoter (human) DNA:polymorphism:cds:p.E254K (human)
CTD OMIM
PMID:20128419 , PMID:9642160 , PMID:12911785 , PMID:8879219 , PMID:11035107 , PMID:19033731 , PMID:10369259 , PMID:16364163 , PMID:17394438 , PMID:18204779
RGD:4890407 , RGD:5147467 , RGD:5147465 , RGD:5147462 , RGD:4890422 , RGD:4890408 , RGD:734557 , RGD:4890415 , RGD:4890413 , RGD:4890410
NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
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Alox5ap
arachidonate 5-lipoxygenase activating protein
susceptibility no_association
ISO
DNA:SNP: :rs10507391 (human) mRNA:increased expression:blood, leukocyte DNA:repeat:promoter:-169(A)21 (human) DNA:substitution, repeat:promoter:-336G>A, -169(A)19-23 (human) DNA:polymorphisms:intron:IVS2+12C>A, IVS2+105T>C (human) protein:increased expression:lung DNA:polymorphism:promoter (human) DNA:SNPs (human)
RGD
PMID:20067482 , PMID:9642160 , PMID:10527888 , PMID:12911785 , PMID:15784112 , PMID:8879219 , PMID:11035107 , PMID:20128419 , PMID:18547289
RGD:4890405 , RGD:5147467 , RGD:5147466 , RGD:5147465 , RGD:5147464 , RGD:5147462 , RGD:4890422 , RGD:4890407 , RGD:4890409
NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
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Ambp
alpha-1-microglobulin/bikunin precursor
ISO
protein:increased expression:serum
RGD
PMID:14621078
RGD:6904149
NCBI chr 5:78,975,690...78,986,021
Ensembl chr 5:78,975,678...78,985,990
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Ang
angiogenin
severity
ISO
protein:increased expression:sputum
RGD
PMID:16478840
RGD:6892719
NCBI chr15:28,022,926...28,028,636
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Anxa1
annexin A1
ISO
RGD
PMID:22092555
RGD:7421657
NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
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Areg
amphiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15696081
NCBI chr14:18,521,921...18,531,179
Ensembl chr14:18,521,930...18,531,179
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Arg1
arginase 1
ISO
DNA:SNP: :rs2781667 (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) mRNA, protein:increased expression:lung, mononuclear cell (human)
CTD
PMID:19281908 PMID:19800904 , PMID:20124949 , PMID:12813022 , PMID:12813022
RGD:5129205 , RGD:4143187 , RGD:4143187
NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
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Arg2
arginase 2
severity susceptibility
ISO
DNA:SNP: :rs3742879, rs17249437 (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) DNA:SNPs (human)
CTD
PMID:19281908 , PMID:20124949 , PMID:12813022 , PMID:16387594
RGD:5129205 , RGD:4143187 , RGD:5129207
NCBI chr 6:102,311,097...102,338,406
Ensembl chr 6:102,311,116...102,338,520
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18357729
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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Bdkrb2
bradykinin receptor B2
onset
ISO IMP
DNA:polymorphism:exon (human) protein:increased expression:blood, eosinophil
RGD
PMID:11517947 , PMID:14727005 , PMID:8856156 , PMID:19038786
RGD:4890456 , RGD:4890454 , RGD:4891042 , RGD:4891028
NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
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Bdnf
brain-derived neurotrophic factor
susceptibility severity
ISO
protein:decreased expression:blood, eosinophil DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) DNA:polymorphisms: :p.V66M, -270C>T (human) DNA:polymorphisms: :p.V66M (rs6265) (human) protein:increased expression:plasma
RGD
PMID:12752594 , PMID:21723144 , PMID:17584309 , PMID:19895626 , PMID:20874832 , PMID:11737043
RGD:4891122 , RGD:8655967 , RGD:4891067 , RGD:4891117 , RGD:4891063 , RGD:4891123
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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Bglap
bone gamma-carboxyglutamate protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8429434
NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
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Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
protein:decreased expression:bronchus
RGD
PMID:18292470
RGD:5129470
NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
protein:decreased expression:bronchus
RGD
PMID:18292470
RGD:5129470
NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
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C3
complement C3
severity
ISO
DNA:SNPs: :multiple (human) protein:increased expression:serum DNA:SNP: :4896C>T (human) DNA:SNP:intron:rs11569562 (human) Interaction with IL4RA protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16355111 , PMID:20589464 , PMID:15278436 , PMID:18566738 , PMID:20402389 , PMID:20395963 , PMID:20802484 , PMID:11591733
RGD:5129505 , RGD:5129519 , RGD:5129512 , RGD:5129501 , RGD:5129537 , RGD:5129538 , RGD:5129681 , RGD:5129517
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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C3ar1
complement C3a receptor 1
severity
ISO IEP
mRNA:increased expression:lung protein:increased expression:lung, leukocyte
RGD
PMID:20045013 , PMID:17544263 , PMID:20802484 , PMID:15940127 , PMID:15278436
RGD:5129686 , RGD:5129560 , RGD:5129681 , RGD:5129561 , RGD:5129512
NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
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C5
complement C5
severity
ISO IDA
mRNA:decreased expression:lung
RGD
PMID:10973279 , PMID:20143644 , PMID:20802484 , PMID:15278436 , PMID:11591795
RGD:5130158 , RGD:5129706 , RGD:5129681 , RGD:5129512 , RGD:1600651
NCBI chr 3:14,049,993...14,113,931 NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
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C5ar1
complement C5a receptor 1
severity
ISO IEP
protein:increased expression:lung, leukocyte protein:increased expression:respiratory tract
RGD
PMID:20802484 , PMID:17544263 , PMID:15940127 , PMID:16511606
RGD:5129681 , RGD:5129560 , RGD:5129561 , RGD:5130166
NCBI chr 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
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Card11
caspase recruitment domain family, member 11
susceptibility
ISO
RGD
PMID:16751370
RGD:11100037
NCBI chr12:15,700,600...15,844,512
Ensembl chr12:15,700,825...15,844,512
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Carm1
coactivator-associated arginine methyltransferase 1
IEP
mRNA:decreased expression:lung
RGD
PMID:20423833
RGD:9491823
NCBI chr 8:22,577,723...22,622,555
Ensembl chr 8:22,577,715...22,622,560
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Casp1
caspase 1
ISO
protein:increased expression:serum
RGD
PMID:12396474
RGD:5130192
NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
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Cat
catalase
severity
ISO
DNA:polymorphism:promoter:-21A>T (human) CTD Direct Evidence: marker/mechanism protein:decreased activity:respiratory system fluid/secretion DNA:polymorphism:promoter:-262C>T (human) protein:increased expression:erythrocyte
CTD
PMID:18048809 , PMID:19373626 , PMID:16622028 , PMID:18048809 , PMID:19475625
RGD:5130753 , RGD:5130867 , RGD:5130856 , RGD:5130751
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Ccl1
C-C motif chemokine ligand 1
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20455898
RGD:4891420
NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
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Ccl11
C-C motif chemokine ligand 11
susceptibility treatment severity
ISO IDA IEP
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.A23T (human) mRNA:increased expression:lung
CTD OMIM
PMID:16304252 , PMID:22932891 , PMID:17074272 , PMID:9034156 , PMID:17845580 , PMID:18250471 , PMID:20704746 , PMID:17060636
RGD:5130930 , RGD:7248416 , RGD:4145461 , RGD:4145451 , RGD:4145457 , RGD:4145392 , RGD:4145387 , RGD:4891485
NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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Ccl17
C-C motif chemokine ligand 17
IEP ISO
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion
RGD
PMID:15993846 , PMID:15947487 , PMID:20074456 , PMID:20237293 , PMID:11160256
RGD:2306304 , RGD:4145513 , RGD:4145487 , RGD:4145486 , RGD:4145603
NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
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Ccl19
C-C motif chemokine ligand 19
ISO
protein:increased expression:bronchus submucosa, mast cell
RGD
PMID:16959919
RGD:5130911
NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
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Ccl2
C-C motif chemokine ligand 2
severity treatment
ISO IEP
protein:increased expression:serum CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) DNA:haplotype::-2518A>G (human) protein:increased expression:lung
CTD
PMID:19373627 , PMID:19373627 , PMID:12055264 , PMID:25441643 , PMID:23454776 , PMID:17964702 , PMID:20205697
RGD:4891466 , RGD:11528570 , RGD:11528569 , RGD:8551842 , RGD:2307055 , RGD:4145509
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:respiratory system fluid/secretion associated with Allergic Rhinitis;protein:increased expression:serum
RGD
PMID:18422729 , PMID:22469443
RGD:7483597 , RGD:7483618
NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
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Ccl22
C-C motif chemokine ligand 22
ISO IEP
protein:increased expression:respiratory system fluid/secretion mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion mRNA:increased expression:lung
RGD
PMID:18316417 , PMID:10384142 , PMID:18684970 , PMID:15993846
RGD:4891474 , RGD:4891475 , RGD:4145489 , RGD:2306304
NCBI chr19:10,674,189...10,681,145
Ensembl chr19:10,674,189...10,681,145
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Ccl24
C-C motif chemokine ligand 24
susceptibility
ISO
DNA:SNPs: :179T>C, 275C>T (human) protein:increased expression:respiratory system fluid/secretion DNA:SNP: :1265A>G (human) DNA:SNPs: :304C>A, 1272A>G (human) protein:increased expression:plasma
RGD
PMID:15207712 , PMID:17548626 , PMID:12952266 , PMID:12761043 , PMID:18712274 , PMID:17060636 , PMID:16304252
RGD:4891495 , RGD:4891484 , RGD:4891496 , RGD:5130932 , RGD:4891483 , RGD:4891485 , RGD:5130930
NCBI chr12:24,131,529...24,152,626
Ensembl chr12:24,148,567...24,152,625
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Ccl26
C-C motif chemokine ligand 26
treatment
ISO IDA
protein:increased expression:plasma DNA:SNPs: :77C>T, 2497T>G (human) DNA:SNPs: :77C>T, 716A>G, 1579G>A (human)
RGD
PMID:16304252 , PMID:25399816 , PMID:25530546 , PMID:15207712 , PMID:18712274
RGD:5130930 , RGD:11087575 , RGD:11081163 , RGD:4891495 , RGD:4891483
NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
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Ccl27
C-C motif chemokine ligand 27
ISO
RGD
PMID:19541356
RGD:5130899
NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584
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Ccl28
C-C motif chemokine ligand 28
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:16290206
RGD:4892195
NCBI chr 2:52,379,341...52,403,979
Ensembl chr 2:52,379,341...52,404,246
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Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:18774390
RGD:5130915
NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
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Ccl5
C-C motif chemokine ligand 5
susceptibility
IEP ISO
protein:increased expression:smooth muscle cell CTD Direct Evidence: marker/mechanism DNA:transition:5' utr:-403G>A (human) protein:increased expression:lung, secretion (mouse)
CTD
PMID:8534483 , PMID:18208670 , PMID:20430255 , PMID:20092989
RGD:2307112 , RGD:4891381 , RGD:4891430
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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Ccl7
C-C motif chemokine ligand 7
ISO
RGD
PMID:21388664 , PMID:19965981
RGD:5130983 , RGD:5130979
NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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Ccr1
C-C motif chemokine receptor 1
severity
ISO
mRNA:increased expression:lung associated with Respiratory Syncytial Virus Infections
RGD
PMID:15654816 , PMID:15593301
RGD:5688158 , RGD:5688159
NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:SNP:cds:p.V64I (human) DNA:haplotype:cds:p.V64I(human) protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:17298432 , PMID:23454776 , PMID:19917684
RGD:4145110 , RGD:8551842 , RGD:8549811
G
Ccr3
C-C motif chemokine receptor 3
ISO IMP
protein:increased expression:respiratory system fluid/secretion, neutrophil DNA:SNP:exon:51T>C (human)
RGD
PMID:18699933 , PMID:19017998 , PMID:20220260 , PMID:16978084 , PMID:19657453 , PMID:20134116 , PMID:17145927
RGD:4145633 , RGD:4145632 , RGD:4145638 , RGD:4145646 , RGD:4145623 , RGD:4145618 , RGD:1601020
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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Ccr4
C-C motif chemokine receptor 4
IEP
mRNA:increased expression:lung
RGD
PMID:15993846
RGD:2306304
NCBI chr 8:122,530,152...122,535,959
Ensembl chr 8:122,530,624...122,532,070
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Ccr5
C-C motif chemokine receptor 5
no_association
ISO
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) DNA:polymorphism, frameshift mutation: :-59029G>A, p.S185_T195del (rs333) (human) mRNA:increased expression:lung (mouse) protein:decreased expression:blood, lymphocyte (human)
RGD
PMID:20220260 , PMID:23454776 , PMID:16474097 , PMID:18094012 , PMID:15256090
RGD:4145638 , RGD:8551842 , RGD:4892093 , RGD:4892088 , RGD:4892108
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Ccr6
C-C motif chemokine receptor 6
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:19917684
RGD:8549811
NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474
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Ccr7
C-C motif chemokine receptor 7
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:19917684
RGD:8549811
NCBI chr10:87,057,335...87,067,444
Ensembl chr10:87,057,136...87,067,456
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Ccr8
C-C motif chemokine receptor 8
IEP
mRNA:increased expression:lung
RGD
PMID:15993846
RGD:2306304
NCBI chr 8:128,779,552...128,782,531
Ensembl chr 8:128,781,395...128,782,456
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Ccr9
C-C motif chemokine receptor 9
ISO
mRNA, protein:increased expression:blood, mature NK T cell
RGD
PMID:16210593
RGD:5130925
NCBI chr 8:132,827,325...132,842,130
Ensembl chr 8:132,828,091...132,842,130
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Cd14
CD14 molecule
severity no_association susceptibility
ISO
DNA:polymorphism:promoter:c. -260C>T (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:c. -159C>T (human) DNA:SNPs: : protein:increased expression:serum|DNA:polymorphism:promoter:c. -159C>T (human)
CTD
PMID:17607003 , PMID:15940135 , PMID:15741437 , PMID:19096003 , PMID:16387800 , PMID:18312481
RGD:4144814 , RGD:4144815 , RGD:4144228 , RGD:4144813 , RGD:4144208
NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
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Cd209
CD209 molecule
ISO
RGD
PMID:21471959
RGD:5131188
NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
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Cd209c
CD209c molecule
ISO
RGD
PMID:21471959
RGD:5131188
NCBI chr12:2,837,991...2,846,709
Ensembl chr12:2,838,128...2,843,772
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Cd274
CD274 molecule
treatment
ISO
associated with Chlamydia pneumonia
RGD
PMID:26378990
RGD:41412180
NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
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Cd28
Cd28 molecule
ISO
RGD
PMID:21356099
RGD:5131612
NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
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Cd40
CD40 molecule
treatment
ISO IDA IEP
RGD
PMID:19220210 , PMID:20205594 , PMID:20205594 , PMID:20941750 , PMID:19159017
RGD:5132272 , RGD:8547792 , RGD:8547792 , RGD:4892277 , RGD:4144188
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Cd40lg
CD40 ligand
severity
ISO
RGD
PMID:9502776
RGD:11352238
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Cd80
Cd80 molecule
ISO
RGD
PMID:21352203 , PMID:21051864 , PMID:21440530
RGD:5132620 , RGD:5132621 , RGD:5132619
NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
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Cd86
CD86 molecule
treatment
ISO IEP
protein:increased expression:lung, alveolar macrophage (mouse) protein:increased expression:blood, B cell (human) protein:increased expression:lung, dendritic cell (rat) DNA:snp:exon:p.I179V rs2681417 (human)
RGD
PMID:20941750 , PMID:25344652 , PMID:9449507 , PMID:20668438 , PMID:9551945 , PMID:17513529
RGD:4892277 , RGD:11354965 , RGD:4892555 , RGD:4892199 , RGD:4892202 , RGD:4892280
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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Cdh1
cadherin 1
ISO
RGD
PMID:21540309
RGD:5132878
NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
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Cdhr3
cadherin-related family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241537
NCBI chr 6:52,344,635...52,402,144
Ensembl chr 6:52,345,240...52,401,853
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Cftr
CF transmembrane conductance regulator
susceptibility
ISO
DNA:deletion: :F508del(human)
RGD
PMID:20298391
RGD:4140387
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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Chat
choline O-acetyltransferase
IEP
Protein:decreased expression:lung epithelium
RGD
PMID:17328924
RGD:5686690
NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
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Chi3l1
chitinase 3 like 1
susceptibility
ISO
human gene in mouse model CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null DNA:snp:5' utr:g.-131C>G rs4950928 (human) protein:increased secretion:serum (human)
CTD OMIM ClinVar
PMID:18403759 , PMID:19414556 , PMID:19568425 , PMID:18003958
RGD:4892663 , RGD:4892630 , RGD:4892632
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
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Chia
chitinase, acidic
no_association
ISO
DNA:snps:5' utr, cds:multiple (human) DNA:snps:multiple (human) mRNA:increased expression:lung, epithelial cell (human) mRNA:increased expression:lung (mouse)
RGD
PMID:16179638 , PMID:20226308 , PMID:19548841 , PMID:15192232 , PMID:14734765
RGD:4996473 , RGD:5024922 , RGD:5024921 , RGD:4985150 , RGD:4990463
NCBI chr 2:208,750,348...208,797,388
Ensembl chr 2:208,749,996...208,797,402
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Chml
CHM like Rab escort protein
ISO
RGD
PMID:18343558
RGD:5133238
NCBI chr13:93,740,759...93,742,624
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Chrm1
cholinergic receptor, muscarinic 1
ISO
RGD
PMID:16931638
RGD:5133416
NCBI chr 1:224,869,087...224,885,101
Ensembl chr 1:224,882,439...224,884,205
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Chrm2
cholinergic receptor, muscarinic 2
ISO
DNA:SNP: :rs6962027 (human)
RGD
PMID:19308904
RGD:5509586
NCBI chr 4:64,089,028...64,091,090
Ensembl chr 4:64,088,900...64,091,090
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Chrm3
cholinergic receptor, muscarinic 3
severity
ISO
RGD
PMID:20394512 , PMID:18348887
RGD:5133437 , RGD:5133438
NCBI chr17:63,990,599...64,463,222
Ensembl chr17:63,990,599...63,994,169
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Chuk
component of inhibitor of nuclear factor kappa B kinase complex
ISO
RGD
PMID:18643924
RGD:5133701
NCBI chr 1:263,848,829...263,884,354
Ensembl chr 1:263,848,884...263,885,169
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Clca1
chloride channel accessory 1
susceptibility
ISO
DNA:SNPs (human)
RGD
PMID:11296262 , PMID:17898169 , PMID:15318163
RGD:4145661 , RGD:4145653 , RGD:4145656
NCBI chr 2:250,897,980...250,923,711
Ensembl chr 2:250,897,969...250,923,744
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Cma1
chymase 1
severity susceptibility no_association
ISO
protein:increased expression:lung epithelium, mast cell (human) DNA:duplications:3' utr:g.*254-?dupTG, dupGA (human) DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human)
RGD
PMID:20813890 , PMID:15924217 , PMID:15248847
RGD:5128804 , RGD:1625396 , RGD:1625397
NCBI chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
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Crhr1
corticotropin releasing hormone receptor 1
ISO
DNA:SNP: :RS242941 (human) DNA:SNPs: :rs1876828, rs242939, rs242941 (human)
RGD
PMID:19663668 , PMID:16113459
RGD:5147485 , RGD:5147488
NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
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Crhr2
corticotropin releasing hormone receptor 2
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:18408560
RGD:5130938
NCBI chr 4:85,286,371...85,329,374
Ensembl chr 4:85,286,372...85,329,362
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Crp
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:21140796
RGD:5131288
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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Csf2
colony stimulating factor 2
severity
ISO
protein:increased expression:lung protein:increased expression:sputum
RGD
PMID:20405019 , PMID:9717963 , PMID:19213775
RGD:5131473 , RGD:10449521 , RGD:5131476
NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
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Csf2rb
colony stimulating factor 2 receptor subunit beta
IMP
RGD
PMID:17145927
RGD:1601020
NCBI chr 7:119,554,383...119,568,248
Ensembl chr 7:119,554,354...119,568,776
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Csf3
colony stimulating factor 3
ISO
protein:increased expression:lung
RGD
PMID:21396376 , PMID:20405019
RGD:5133731 , RGD:5131473
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
severity treatment no_association
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) DNA:SNP: :rs3087243 (human) DNA:polymorphism:promoter:-318C>T (human) DNA:SNPs:promoter, exon:-1147C>T, -318C>T, 49A>G (human) DNA:polymorphisms:promoter, exon:-318C>T 49A>G (human)
CTD
PMID:28807506 , PMID:15871446 , PMID:11726402 , PMID:17237396 , PMID:15316504 , PMID:19895365 , PMID:16677453 , PMID:12114354 , PMID:18699801 , PMID:16926542 , PMID:16708626 , PMID:17469155 , PMID:12956753
RGD:4891529 , RGD:11344922 , RGD:4891514 , RGD:4891519 , RGD:4891526 , RGD:4891517 , RGD:4891522 , RGD:4891510 , RGD:4891528 , RGD:4891516 , RGD:4891527 , RGD:4891521
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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Ctnna3
catenin alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19187332
NCBI chr20:25,063,124...26,640,428
Ensembl chr20:26,516,836...26,589,209
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:plasma
RGD
PMID:14657873
RGD:4891906
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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Cx3cr1
C-X3-C motif chemokine receptor 1
no_association
ISO
DNA:SNPs: :p.V249I, rs2669849 (human) DNA:polymorphisms: :p.V249I, p.T280M (human)
RGD
PMID:21037587 , PMID:17082760 , PMID:17505143
RGD:4891882 , RGD:4891895 , RGD:4891904
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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Cxcl1
C-X-C motif chemokine ligand 1
severity
ISO
RGD
PMID:20371397
RGD:5134983
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:decreased expression:plasma
RGD
PMID:17302903 , PMID:16602032 , PMID:11994485
RGD:5135439 , RGD:5135457 , RGD:5135452
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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Cxcl14
C-X-C motif chemokine ligand 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21150878
NCBI chr17:9,109,731...9,117,754
Ensembl chr17:9,109,731...9,117,750
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
mRNA:increased expression:lung
RGD
PMID:20045013
RGD:5129686
NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
G
Cxcl3
C-X-C motif chemokine ligand 3
severity
ISO
RGD
PMID:20371397
RGD:5134983
NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
mRNA:increased expression:bronchus epithelium
RGD
PMID:17234659 , PMID:9620668
RGD:5135243 , RGD:5135265
NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:15210824
RGD:5135447
NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
G
Cxcr3
C-X-C motif chemokine receptor 3
susceptibility severity
ISO
DNA:SNP:intron:IVS1+234G>A (human) protein:decreased expression:respiratory system fluid/secretion, T cell
RGD
PMID:18094012 , PMID:16043121 , PMID:16548899 , PMID:17641057
RGD:4892088 , RGD:5143934 , RGD:5143932 , RGD:5135484
NCBI chr X:71,614,346...71,616,997
Ensembl chr X:71,614,346...71,616,997
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Cyba
cytochrome b-245 alpha chain
susceptibility
ISO
DNA:polymorphism: :-930A>G (human) DNA:SNPs: :-930A>G, 242C>T, 640A>G (human)
RGD
PMID:19459419 , PMID:18716406
RGD:4311041 , RGD:4772770
NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
mRNA, protein:increased expression, decreased activity:lung
RGD
PMID:12415424
RGD:4892074
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
DNA:polymorphism: :1934G>A (human)
RGD
PMID:19575027
RGD:5143944
NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
mRNA:decreased expression:leukocyte CTD Direct Evidence: marker/mechanism
CTD
PMID:28807506 , PMID:20514434 , PMID:17081494
RGD:4892076 , RGD:4892220
NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
G
Cysltr1
cysteinyl leukotriene receptor 1
no_association severity
ISO
DNA:SNPs:promoter, exon:multiple (human) DNA:SNPs:promoter:-634C>T, -475A>C, -336A>G (human) DNA:SNP: :927T>C (human) mRNA, protein:increased expression:respiratory system mucosa
RGD
PMID:16771777 , PMID:16630147 , PMID:16776674 , PMID:8087328 , PMID:16387808 , PMID:11591188 , PMID:17153879 , PMID:17689528 , PMID:16123393
RGD:4889116 , RGD:4784257 , RGD:4782072 , RGD:4888514 , RGD:4843543 , RGD:4848936 , RGD:4781742 , RGD:4781449 , RGD:4847129
NCBI chr X:77,671,028...77,700,491
Ensembl chr X:77,674,150...77,700,269
G
Cysltr2
cysteinyl leukotriene receptor 2
ISO
DNA:polymorphism: :601A>G (human) DNA:polymorphism: :-1220A>C (human)
RGD
PMID:15475736 , PMID:15454733
RGD:5144002 , RGD:5144003
NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
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Dcn
decorin
IEP
RGD
PMID:16387756
RGD:2311423
NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
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Defb1
defensin beta 1
susceptibility
ISO
DNA:SNP: :-1816 T>C (human) DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human)
RGD
PMID:15696078 , PMID:16435024
RGD:4892263 , RGD:4892254
NCBI chr16:75,294,385...75,309,127
Ensembl chr16:75,294,376...75,309,176
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Dnah5
dynein, axonemal, heavy chain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr 2:80,947,730...81,143,997 NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
G
Dnmt1
DNA methyltransferase 1
ISO
DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract: CTD Direct Evidence: marker/mechanism
CTD
PMID:23423710 , PMID:23196709
RGD:9588646
NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
G
Dpp10
dipeptidyl peptidase like 10
ISO IEP
DNA:SNPs (human) DNA:SNP: :rs10208402 (human) DNA:SNP:exon (human) protein:increased expression:bronchus
RGD GAD
PMID:21103062 , PMID:15118671 , PMID:19672052 , PMID:14566338 , PMID:17967935
RGD:4889866 , RGD:1331525 , RGD:4892275 , RGD:4892276 , RGD:4892278
NCBI chr13:39,430,590...41,173,706
Ensembl chr13:39,434,217...39,643,361
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Ebi3
Epstein-Barr virus induced 3
ISO
RGD
PMID:21255010
RGD:5128488
NCBI chr 9:11,110,874...11,114,843
Ensembl chr 9:11,110,874...11,114,843
G
Edn1
endothelin 1
ISO
Severe Persistent Allergic Asthma; protein:increased secretion:lung (human) CTD Direct Evidence: marker/mechanism DNA:transition:intron:g.4124T>C (human)
CTD
PMID:16981460 , PMID:20588001 , PMID:11668616
RGD:4144895 , RGD:4144869
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
G
Ednra
endothelin receptor type A
ISO
RGD
PMID:17448648 , PMID:18632188
RGD:4892322 , RGD:4892288
NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
G
Ednrb
endothelin receptor type B
IEP ISO
mRNA:increased expression:bronchus, smooth muscle cell DNA:polymorphism (human)
RGD
PMID:15245576 , PMID:17470272 , PMID:18632188
RGD:4892324 , RGD:4892321 , RGD:4892288
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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Egfr
epidermal growth factor receptor
severity
IEP ISO
protein:increased expression:lung epithelium (rat) protein:increased expression:bronchial epithelium (human) protein:increased expression:lung epithelium (mouse)
RGD
PMID:19954006 , PMID:12580917 , PMID:21224214 , PMID:21072743
RGD:5131870 , RGD:5131468 , RGD:5131633 , RGD:5131642
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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Egr1
early growth response 1
ISO
mRNA:increased expression:bronchoalveolar lavage cell (human) DNA:snp:5' utr:g.-4071A>G rs7729723 (human)
RGD
PMID:11254538 , PMID:18774390 , PMID:18507785
RGD:5131985 , RGD:5130915 , RGD:5131993
NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
G
Elp1
elongator acetyltransferase complex subunit 1
no_association
ISO
RGD
PMID:12774215 , PMID:11281413
RGD:5129158 , RGD:5129157
NCBI chr 5:73,503,406...73,552,798
Ensembl chr 5:73,503,407...73,552,798
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Ephx1
epoxide hydrolase 1
susceptibility
ISO
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
RGD
PMID:17711870
RGD:4889407
NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
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Epx
eosinophil peroxidase
severity disease_progression
ISO
protein:increased activity:sputum,nasal,pharyngeal mucosa
RGD
PMID:26645423 , PMID:12199967 , PMID:20813885
RGD:11574908 , RGD:13506892 , RGD:13506891
NCBI chr10:75,160,690...75,171,774
Ensembl chr10:75,160,690...75,171,774
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Esr2
estrogen receptor 2
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:18375789
RGD:8694127
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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F2
coagulation factor II
ISO
protein:increased expression:plasma associated with Rhinosinusitis, associated with Nasal Polyps;protein:increased expression:nasal mucus
RGD
PMID:21658190 , PMID:21711961
RGD:5147753 , RGD:5147783
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
G
F2rl1
F2R like trypsin receptor 1
ISO
RGD
PMID:19864598
RGD:4892589
NCBI chr 2:25,222,324...25,235,275
Ensembl chr 2:25,222,328...25,235,275
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F7
coagulation factor VII
treatment
IDA
RGD
PMID:24523826
RGD:11040539
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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Fas
Fas cell surface death receptor
IEP
mRNA:increased expression:eosinophil
RGD
PMID:16337971
RGD:1600350
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Fcer1a
Fc fragment of IgE receptor Ia
severity
ISO
Asthma symptoms persistent despite steroids in humans Fatal asthma subjects
RGD
PMID:20937062 , PMID:21388666
RGD:5128717 , RGD:5128711
NCBI chr13:91,727,253...91,737,106
Ensembl chr13:91,730,925...91,737,053
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Fcgr2a
Fc fragment of IgG receptor IIa
ISO
protein:increased expression:alveolar macrophage
RGD
PMID:9117017
RGD:5147982
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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Fcgr2b
Fc fragment of IgG receptor IIb
ISO
RGD
PMID:20179765
RGD:11344929
NCBI chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
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Fcgr3a
Fc fragment of IgG receptor IIIa
susceptibility
ISO
DNA:polymorphism:exon:p.F158V(rs396991)(human)
RGD
PMID:18199088
RGD:5508449
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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Fga
fibrinogen alpha chain
treatment
IDA
RGD
PMID:24523826
RGD:11040539
NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
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Fkbp5
FKBP prolyl isomerase 5
ISO
ClinVar Annotator: match by term: Asthma
ClinVar
NCBI chr20:7,976,704...8,097,290
Ensembl chr20:7,976,713...8,019,020
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Foxp3
forkhead box P3
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27965764 PMID:29317916 , PMID:28944907 , PMID:27633092
RGD:38549365 , RGD:38548920
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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Gata3
GATA binding protein 3
ISO IEP
RGD
PMID:9949310 , PMID:18186587
RGD:5128802 , RGD:5128803
NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
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Gc
GC, vitamin D binding protein
ISO
protein, mRNA:increased expression:bronchoalveolar lavage fluid:
RGD
PMID:21169467 , PMID:21169467
RGD:5509920 , RGD:5509920
NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
G
Gsta1
glutathione S-transferase alpha 1
susceptibility
ISO
DNA:polymorphism:promoter: -69C>T (human)
RGD
PMID:20374258
RGD:5490988
NCBI chr 9:27,366,404...27,381,004
Ensembl chr 9:27,368,272...27,452,902
G
Gstm1
glutathione S-transferase mu 1
resistance susceptibility
ISO
DNA:deletion: : CTD Direct Evidence: marker/mechanism
CTD
PMID:16870661 PMID:18988661 , PMID:17651144 , PMID:21051083 , PMID:11075422
RGD:4142509 , RGD:5490962 , RGD:4140921
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
G
Gstm3
glutathione S-transferase mu 3
ISO
DNA:polymorphism
RGD
PMID:17550934 , PMID:11470996
RGD:5135038 , RGD:5135039
NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
G
Gstm5
glutathione S-transferase, mu 5
ISO
DNA:polymorphism
RGD
PMID:11470996 PMID:17550934
RGD:5135038 RGD:5135039
NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
G
Gsto2
glutathione S-transferase omega 2
susceptibility
ISO
DNA:polymorphism:exon:p. N142D (human)
RGD
PMID:20374258
RGD:5490988
NCBI chr 1:267,617,517...267,640,455
Ensembl chr 1:271,229,036...271,243,517 Ensembl chr 1:271,229,036...271,243,517
G
Gstp1
glutathione S-transferase pi 1
severity susceptibility disease_progression no_association
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:exons:p.I105V (rs1695), A114V (rs1138272) (human) DNA:SNPs:intron,exon:(rs749174), (rs1138272)(human) DNA:SNPs: :p.I105V, p.A114V (human) DNA:polymorphism:exon:p.I105V (human) DNA:SNP: :p.A114V (human)
CTD
PMID:11994713 PMID:16870661 PMID:18988661 PMID:29411558 , PMID:10806136 , PMID:15693909 , PMID:20210814 , PMID:20858151 , PMID:18057098 , PMID:16176403 , PMID:18787219 , PMID:18709160
RGD:4142526 , RGD:5490999 , RGD:5490991 , RGD:5490985 , RGD:4140951 , RGD:4142519 , RGD:4140946 , RGD:4140947
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:15300848 , PMID:21051083 , PMID:11075422
RGD:4142539 , RGD:5490962 , RGD:4140921
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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Havcr1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:20628202
RGD:5128851
NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
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Havcr2
hepatitis A virus cellular receptor 2
ISO
RGD
PMID:17517968
RGD:5135525
NCBI chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
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Hdac2
histone deacetylase 2
ISO
mRNA:decreased expression:macrophage:
RGD
PMID:20538962
RGD:9590321
NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
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Hdc
histidine decarboxylase
ISO
associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human)
RGD
PMID:20608921
RGD:5128884
NCBI chr 3:119,057,524...119,075,599
Ensembl chr 3:119,057,517...119,075,619
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Hif1a
hypoxia inducible factor 1 subunit alpha
treatment
ISO
RGD
PMID:18160846
RGD:10402541
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:20084838
RGD:5508450
NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
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Hmox1
heme oxygenase 1
severity
ISO
CTD Direct Evidence: marker/mechanism mRNA;protein:increased expression:Leukocytes, Mononuclear
CTD
PMID:18048809 , PMID:20596599 , PMID:16196283
RGD:4145403 , RGD:4145408
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Hnmt
histamine N-methyltransferase
no_association susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:600807
OMIM CTD ClinVar
PMID:9547362 PMID:10752634 PMID:10803682 PMID:15693910 PMID:16205835 PMID:17651147 , PMID:15693910 , PMID:21040557 , PMID:17651147 , PMID:10803682 , PMID:16205835
RGD:5128888 , RGD:5128883 , RGD:5128885 , RGD:5128881 , RGD:5128887
NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
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Hp
haptoglobin
ISO
RGD
PMID:21471098 , PMID:21169467
RGD:5144151 , RGD:5509920
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11932298
NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
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Icam1
intercellular adhesion molecule 1
ISO IEP
mRNA:increased expression:aorta (mouse) CTD Direct Evidence: marker/mechanism protein:increased secretion:lung (human) protein:increased expression:lung, serum (rat)
CTD
PMID:17014439 PMID:25003170 , PMID:20400685 , PMID:20205697 , PMID:20953388
RGD:4145444 , RGD:4145509 , RGD:4145331
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Ifng
interferon gamma
treatment resistance
ISO
protein:increased expression:sputum
RGD GAD
PMID:20817868 , PMID:12396623 , PMID:15118671 , PMID:19542437 , PMID:20953328
RGD:4145651 , RGD:10755706 , RGD:1331525 , RGD:5128479 , RGD:4145525
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
Ifngr1
interferon gamma receptor 1
ISO
DNA: SNP: Leu467Pro
RGD
PMID:21737883 , PMID:12851715
RGD:6480255 , RGD:6480431
NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
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Ifnl3
interferon, lambda 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22295096
NCBI chr 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
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Ikzf3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25256354
NCBI chr10:86,420,757...86,509,454
Ensembl chr10:86,421,582...86,509,454
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Il10
interleukin 10
treatment susceptibility
ISO IEP IGI
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :-627C>A (human) protein:decreased expression:plasma
CTD
PMID:29317916 , PMID:20237464 , PMID:21998459 , PMID:12938145 , PMID:20121766 , PMID:20644177 , PMID:20230687 , PMID:20560982
RGD:4140471 , RGD:11046261 , RGD:4143221 , RGD:4140451 , RGD:4140459 , RGD:4140421 , RGD:5131623
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il12a
interleukin 12A
ISO
RGD
PMID:17056578 , PMID:17548618
RGD:4438438 , RGD:4373570
NCBI chr 2:165,076,945...165,083,996
Ensembl chr 2:165,076,607...165,084,318
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Il12b
interleukin 12B
severity susceptibility
ISO
DNA:polymorphisms:introns: DNA:polymorphisms:promoter, 3'utr: DNA:polymorphism:promoter
RGD
PMID:15322986 , PMID:16210052 , PMID:12241719
RGD:1600043 , RGD:4145438 , RGD:4145428
NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
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Il13
interleukin 13
susceptibility severity no_association
ISO IMP IDA IEP
ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism associated with Dermatitis, Atopic;DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) DNA:polymorphism: :-1512A>C, -1112C>T, 2044G>A (human) mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid protein:increased expression:serum DNA:polymorphism:cds:p.R130Q (human) DNA:polymorphisms:promoters,exon4: rs1881457, rs1800925, rs20541 (human) DNA:polymorphism: :p. R110Q (human) DNA:SNP: :c. -646A>G (human) DNA:polymorphism: :c. 1923C>T (human) protein:increased expression:sputum DNA:polymorphism:promoter:c. -1055C>T (human) DNA:polymorphisms: :rs20541, rs1295685(human) DNA:polymorphism:3'utr:c.4738G>A (human) DNA:polymorphism: :c.-1055C>T (human) DNA:polymorphism: :c. 2044G>A (human)
ClinVar OMIM CTD
PMID:10699178 PMID:11588017 PMID:11709756 PMID:12847555 PMID:12928861 PMID:15356556 PMID:15483090 PMID:15711639 PMID:15879126 PMID:22867017 , PMID:16120094 , PMID:23317483 , PMID:17006604 , PMID:12604708 , PMID:20819635 , PMID:18222984 , PMID:16393274 , PMID:11758895 , PMID:18258919 , PMID:11678850 , PMID:19796199 , PMID:12091879 , PMID:15315330 , PMID:17303794 , PMID:19575932 , PMID:18328894 , PMID:16024972 , PMID:20484924 , PMID:11588017 , PMID:20198887 , PMID:18341619
RGD:4206706 , RGD:8549509 , RGD:4892639 , RGD:2301686 , RGD:4145453 , RGD:2307110 , RGD:4145508 , RGD:4763153 , RGD:4145639 , RGD:4763761 , RGD:4145601 , RGD:4145664 , RGD:4321828 , RGD:4146241 , RGD:4145775 , RGD:4145777 , RGD:4220633 , RGD:4145534 , RGD:4765128 , RGD:4145593 , RGD:4145776
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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Il13ra1
interleukin 13 receptor subunit alpha 1
no_association
ISO
mRNA:increased expression:bronchus DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human) DNA:polymorphism: :1398A>G (human) DNA:polymorphism: :1050C>T (human)
RGD
PMID:20383033 , PMID:17392323 , PMID:18480254 , PMID:17006604 , PMID:10686479 , PMID:11714828
RGD:4892646 , RGD:4892650 , RGD:4892647 , RGD:4892639 , RGD:4892655 , RGD:4892654
NCBI chr X:122,724,081...122,783,801
Ensembl chr X:122,724,129...122,781,479
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Il13ra2
interleukin 13 receptor subunit alpha 2
ISO
mRNA:increased expression:bronchus protein:increased expression:serum
RGD
PMID:20383033 , PMID:21462799 , PMID:17885690
RGD:4892646 , RGD:8549521 , RGD:4892649
NCBI chr X:118,443,955...118,514,716
Ensembl chr X:118,443,823...118,513,061
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Il15
interleukin 15
no_association
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:19133918 , PMID:16629787 , PMID:11160248 , PMID:15843549 , PMID:15131572
RGD:5000760 , RGD:4984421 , RGD:4990462 , RGD:5000757 , RGD:5000758
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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Il16
interleukin 16
no_association severity
ISO
DNA:SNP:promoter:-295T>C (human) associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion protein:increased expression:serum
RGD
PMID:10585533 , PMID:16387589 , PMID:15784111 , PMID:16734115 , PMID:12872394
RGD:5024937 , RGD:5024934 , RGD:5024935 , RGD:5024928 , RGD:5024930
NCBI chr 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
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Il17a
interleukin 17A
susceptibility
IEP ISO
mRNA,protein:increased expression:Leukocytes, Mononuclear, lung, serum protein:increased expression:sputum protein:increased expression:alveolar macrophage DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:18060619 , PMID:20351038 , PMID:15730730 , PMID:18941201 , PMID:20437253
RGD:4839043 , RGD:4888527 , RGD:4889114 , RGD:4889152 , RGD:4889139
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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Il17rb
interleukin 17 receptor B
ISO
associated with Picornaviridae Infections
RGD
PMID:25273095
RGD:39128256
NCBI chr16:6,064,287...6,077,978
Ensembl chr16:6,064,288...6,077,978
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Il18
interleukin 18
severity susceptibility disease_progression
ISO
DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human) DNA:SNP:promoter:c.and -137G>C (rs187238)(human) protein:increased expression:serum DNA:SNP:promoter: c.-380C>G (rs5744247)(human) DNA:polymorphism: :c. -105A>C (human)
RGD
PMID:17767553 , PMID:16433859 , PMID:18826499 , PMID:11174201 , PMID:20497957 , PMID:19745201 , PMID:18200581
RGD:4889585 , RGD:4889923 , RGD:4889908 , RGD:4889863 , RGD:4889898 , RGD:4889900 , RGD:4889910
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il18r1
interleukin 18 receptor 1
ISO
DNA:SNP: :rs3771166 (human) DNA:SNPs: :multiple (human)
RGD
PMID:19910030 , PMID:20860503 , PMID:18382474 , PMID:11972614 , PMID:18774397
RGD:5024945 , RGD:5024942 , RGD:5024947 , RGD:5024948 , RGD:5024946
NCBI chr 9:47,184,404...47,217,403
Ensembl chr 9:47,185,443...47,219,175
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Il19
interleukin 19
ISO
protein:increased expression:serum
RGD
PMID:15557163
RGD:5037236
NCBI chr13:47,663,592...47,677,869
Ensembl chr13:47,664,080...47,670,407
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Il1a
interleukin 1 alpha
ISO
DNA:polymorphisms: :
RGD
PMID:18763028
RGD:4142802
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il1b
interleukin 1 beta
susceptibility
ISO
DNA:polymorphism: :-511C>T (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:neutrophil
CTD
PMID:9176529 , PMID:18926055 , PMID:19842845 , PMID:19684087
RGD:4142864 , RGD:4142830 , RGD:4142836
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il1rl1
interleukin 1 receptor-like 1
susceptibility severity
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:SNP: :rs1420101 (human) DNA:SNPs:intron:rs1420089, rs1861245,rs1946131 (human) DNA:SNP: :rs10197862 (human) DNA:SNP: :rs1041973 (human)
CTD
PMID:19198610 PMID:21150878 PMID:21804549 PMID:24241537 PMID:27472835 , PMID:17623648 , PMID:17407196 , PMID:19179489 , PMID:19198610 , PMID:19852851 , PMID:21150878 , PMID:21281963 , PMID:11463601
RGD:5144235 , RGD:5144245 , RGD:5144244 , RGD:5144243 , RGD:5144242 , RGD:5144240 , RGD:5144239 , RGD:5144237
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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Il1rn
interleukin 1 receptor antagonist
susceptibility severity
ISO
DNA:SNP: :rs2234678 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) DNA:SNPs: :rs447713, rs3087271 (human) protein:increased expression:plasma DNA, protein:repeat, decreased expression (human) DNA:polymorphism:intron (human)
CTD
PMID:9176529 , PMID:17107994 , PMID:15020290 , PMID:16409203 , PMID:16724092 , PMID:10843772 , PMID:11027520 , PMID:18926055 , PMID:18763028
RGD:4143208 , RGD:4143216 , RGD:4143163 , RGD:4143209 , RGD:4143225 , RGD:4143224 , RGD:4142864 , RGD:4142802
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il2
interleukin 2
susceptibility
ISO
DNA:SNP:promoter:rs2069762(human)
RGD
PMID:20926789 , PMID:16333313
RGD:4889118 , RGD:8663473
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il21
interleukin 21
ISO
DNA:SNP:exon:5250C>T (human)
RGD
PMID:18802358
RGD:5147396
NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
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Il22
interleukin 22
treatment severity
ISO IMP
mRNA:increased expression:blood, mononuclear cell protein:increased expression:serum
RGD
PMID:21789181 , PMID:21998459 , PMID:21535180 , PMID:21297073
RGD:5147401 , RGD:11046261 , RGD:5147409 , RGD:5147403
NCBI chr 7:61,236,037...61,240,502
Ensembl chr 7:61,236,037...61,240,502
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Il23r
interleukin 23 receptor
ISO
RGD
PMID:19935773
RGD:5037240
NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
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Il25
interleukin 25
ISO
mRNA, protein:increased expression:lung
RGD
PMID:25273095
RGD:39128256
NCBI chr15:33,594,852...33,599,692
Ensembl chr15:33,596,301...33,599,685
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Il27
interleukin 27
susceptibility
ISO
DNA:SNP: :g.-964A>G (human) protein:increased expression:sputum
RGD
PMID:17318299 , PMID:17878337 , PMID:19542437 , PMID:20817868
RGD:5128485 , RGD:5128491 , RGD:5128479 , RGD:4145651
NCBI chr 1:198,003,615...198,010,112
Ensembl chr 1:198,003,683...198,008,893
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Il27ra
interleukin 27 receptor subunit alpha
ISO
RGD
PMID:16081811
RGD:5128496
NCBI chr19:25,151,835...25,163,995
Ensembl chr19:25,149,897...25,164,086
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Il2ra
interleukin 2 receptor subunit alpha
IDA ISO
RGD
PMID:17351063 , PMID:20525707 , PMID:21377197
RGD:2325990 , RGD:5147445 , RGD:5147437
NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
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Il2rb
interleukin 2 receptor subunit beta
ISO
DNA:SNP: :rs2284033 (human)
RGD
PMID:20860503 , PMID:18641329
RGD:5024942 , RGD:5147447
NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
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Il3
interleukin 3
susceptibility
ISO
DNA:SNP: :rs40401(human) DNA:polymorphism:cds:+79T>C(S27P)(human)
RGD
PMID:24684517 , PMID:15372320
RGD:13506914 , RGD:13506916
NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
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Il33
interleukin 33
treatment severity
ISO
CTD Direct Evidence: marker/mechanism associated with viral pneumonia; associated with fungal infectious disease
CTD
PMID:19198610 PMID:21804549 PMID:24241537 PMID:27472835 PMID:29067999 , PMID:28947081 , PMID:25746970
RGD:39939002 , RGD:39938968
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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Il4
interleukin 4
treatment no_association
ISO IEP
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism mRNA, protein:increase expression:leukocyte, serum protein:increased expression:lung DNA:SNP: :589C>T (human) protein:increased expression:respiratory system fluid/secretion mRNA:increased expression:lung, spleen
CTD
PMID:18357729 , PMID:21103062 , PMID:24946644 , PMID:24450480 , PMID:18211752 , PMID:20524005 , PMID:21354484 , PMID:21364926 , PMID:21375458
RGD:4889866 , RGD:10402799 , RGD:10402791 , RGD:2317290 , RGD:5128560 , RGD:5128502 , RGD:5128500 , RGD:5128557
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il4r
interleukin 4 receptor
susceptibility severity disease_progression
ISO ISS
DNA:mutation:cds:p.Q576R (mouse) OMIM:600807 DNA:SNPs: :multiple DNA:polymorphism:cds:p.I50V (human) DNA:SNPs:cds:p. I75V, Q576R (human) DNA:polymorphism::-1902G/A (human) protein:increased secretion:plasma|DNA:polymorphism:promoter:c.-3223C>T (human) DNA:polymorphism:cds:p.Q576R (human) DNA:SNPs:cds:p.E375A, Q551R (human) DNA:polymorphism:cds:p. S478P (human) DNA:polymorphism:cds:p.Q551R (human)
MouseDO
PMID:19770271 , PMID:17823973 , PMID:18425216 , PMID:12133990 , PMID:20868478 , PMID:11398072 , PMID:15479272 , PMID:12940513 , PMID:17170387 , PMID:11709756 , PMID:20605987 , PMID:20953944 , PMID:16917945 , PMID:17586032
RGD:4890003 , RGD:4890347 , RGD:4890346 , RGD:4890404 , RGD:4890387 , RGD:4890406 , RGD:4890351 , RGD:4890402 , RGD:4890349 , RGD:4890024 , RGD:5128553 , RGD:5128514 , RGD:4890352 , RGD:4890348
NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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Il5
interleukin 5
treatment disease_progression
IDA ISO IEP IMP
CTD Direct Evidence: marker/mechanism protein:increased expression:lungs, respiratory system fluid/secretion protein: increased levels: sputum protein:increased expression:respiratory system fluid/secretion DNA:polymorphism:promoter:-703C>T (human)
CTD
PMID:7540862 PMID:23266719 , PMID:17074272 , PMID:25008888 , PMID:11159041 , PMID:22085848 , PMID:22186238 , PMID:15626484 , PMID:15502111 , PMID:9182686 , PMID:18629290 , PMID:9493449 , PMID:19947994
RGD:4145461 , RGD:11354973 , RGD:5687189 , RGD:5687144 , RGD:5687140 , RGD:4890947 , RGD:4890948 , RGD:4890963 , RGD:4890940 , RGD:4890962 , RGD:4890938
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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Il5ra
interleukin 5 receptor subunit alpha
ISO
DNA:SNP: :c.25091G>A (human) DNA:SNPs (human)
RGD
PMID:20513521 , PMID:20592918 , PMID:17276963 , PMID:10848907 , PMID:10224351 , PMID:16217591
RGD:5128625 , RGD:5128614 , RGD:5128617 , RGD:5128627 , RGD:5128623 , RGD:5128626
NCBI chr 4:138,796,165...138,834,164
Ensembl chr 4:138,795,327...138,830,117
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Il6
interleukin 6
ISO IEP
CTD Direct Evidence: marker/mechanism associated with Hypersensitivity;protein:increased expression:sputum protein:increased expression:lung
CTD
PMID:29902480 , PMID:21115736 , PMID:20840469 , PMID:20816188 , PMID:20685386
RGD:5128630 , RGD:4143265 , RGD:4143266 , RGD:4143271
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Il6r
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29902480 , PMID:17496315 , PMID:21115736
RGD:5128662 , RGD:5128630
NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
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Il9
interleukin 9
ISO
protein:increased expression:respiratory system fluid/secretion protein:increased expression:sputum, macrophage, cytoplasm
RGD
PMID:12153980 , PMID:17446528 , PMID:15531759 , PMID:15303135 , PMID:21356110
RGD:5128700 , RGD:5128686 , RGD:5128690 , RGD:5128691 , RGD:5128707
NCBI chr17:8,558,827...8,561,950
Ensembl chr17:8,558,827...8,561,950
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Il9r
interleukin 9 receptor
ISO
RGD
PMID:10629460
RGD:5128704
NCBI chr10:15,697,216...15,708,684
Ensembl chr10:15,696,824...15,710,423
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Irak3
interleukin-1 receptor-associated kinase 3
susceptibility
ISO
ClinVar Annotator: match by OMIM:611064 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:17503328
NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281
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Irf1
interferon regulatory factor 1
no_association susceptibility
ISO
DNA:polymorphisms:promoter, cds:-300G>T, 4396A>G, 6355G>A (human) protein:increased expression:respiratory tract epithelium DNA:repeat:intron (human)
RGD
PMID:11069564 , PMID:10225979 , PMID:16961714
RGD:5128726 , RGD:5128723 , RGD:5128724
NCBI chr10:39,109,530...39,116,532
Ensembl chr10:39,109,522...39,116,531
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Irf3
interferon regulatory factor 3
ISO
RGD
PMID:20673978
RGD:5128793
NCBI chr 1:100,992,244...100,997,202
Ensembl chr 1:100,992,405...100,997,198
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Itgb3
integrin subunit beta 3
ISO
DNA:SNPs: :
RGD
PMID:17556058
RGD:5037230
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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Itgb6
integrin subunit beta 6
ISS
OMIM:600807
MouseDO
NCBI chr 3:46,652,624...46,775,362
Ensembl chr 3:46,652,623...46,726,958
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Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
IDA
RGD
PMID:21777465
RGD:5147661
NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
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Kdr
kinase insert domain receptor
ISO
associated with Rhinitis,Allergic,Seasonal;protein:increased expression:nasal cavity of mucosa:
RGD
PMID:20921519 , PMID:17651148
RGD:5684385 , RGD:8551771
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Kif3a
kinesin family member 3a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr10:38,918,705...38,953,958
Ensembl chr10:38,918,748...38,952,785
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Krt19
keratin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15478392
NCBI chr10:88,055,843...88,060,560
Ensembl chr10:88,055,841...88,060,561
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Lep
leptin
ISO
protein:increased expression:plasma
RGD
PMID:19705789
RGD:5128781
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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Lgals3
galectin 3
treatment
ISO
RGD
PMID:16424226
RGD:9685213
NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
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Lta
lymphotoxin alpha
susceptibility no_association
ISO
DNA:polymorphisms:promoter DNA:polymorphism:intron
RGD
PMID:15969671 , PMID:18947013 , PMID:12530118 , PMID:17536219
RGD:4143373 , RGD:4143370 , RGD:4143254 , RGD:4143371
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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Lta4h
leukotriene A4 hydrolase
IEP
mRNA:increased expression:lung, cerebral cortex (rat)
RGD
PMID:15715933
RGD:2316607
NCBI chr 7:34,288,333...34,320,243
Ensembl chr 7:34,288,365...34,320,235
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Ltc4s
leukotriene C4 synthase
ISO
OMIM
NCBI chr10:35,736,486...35,743,088
Ensembl chr10:35,737,664...35,739,625
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Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with Bronchiolitis;DNA:polymorphism:exon: DNA:SNP:cds:p.G54D(human)
RGD
PMID:22512728 , PMID:22674410
RGD:8693709 , RGD:12910828
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Mefv
MEFV innate immuity regulator, pyrin
susceptibility
ISO
DNA:mutations:exons
RGD
PMID:18219832
RGD:5129186
NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
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Mif
macrophage migration inhibitory factor
severity
ISO IDA
protein:increased expression:bronchoalveolar lavage fluid DNA:SNP:promoter:rs755622(human) DNA:repeats:promoter
RGD
PMID:9637721 , PMID:17373669 , PMID:19317738 , PMID:16186482 , PMID:16455830
RGD:4891043 , RGD:4891035 , RGD:4891059 , RGD:4891052 , RGD:1641985
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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Mmp1
matrix metallopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24469321
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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Mmp10
matrix metallopeptidase 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16926187
NCBI chr 8:5,734,348...5,742,243
Ensembl chr 8:5,734,348...5,742,243
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Mmp9
matrix metallopeptidase 9
ISO IEP
protein:increased expression:serum CTD Direct Evidence: marker/mechanism protein:increased expression:lung DNA:SNP: : rs2664538(human) mRNA, protein:increased expression:lung
CTD
PMID:11742282 PMID:15131573 , PMID:21439806 , PMID:19361849 , PMID:20181264 , PMID:16191269 , PMID:19940022
RGD:5129204 , RGD:5129687 , RGD:5130859 , RGD:2325953 , RGD:5129522
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Mpo
myeloperoxidase
susceptibility
ISO
DNA:polymorphism: :−463G > A (human) protein:increased expression:serum
RGD
PMID:19544176 , PMID:10731862
RGD:5130989 , RGD:5130994
NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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Ms4a2
membrane spanning 4-domains A2
susceptibility
ISO
DNA:SNPs:multiple:, rs573790, rs2583476, rs569108 DNA:SNPs: : rs556917, rs502581, rs502419 (human) DNA:SNP: : -109C>T (human) Atopy and bronchial hyperresponsiveness, OMIM:147050
RGD
PMID:19218813 , PMID:21320344 , PMID:19862939 , PMID:8817330
RGD:5131151 , RGD:5131149 , RGD:5131092 , RGD:1599903
NCBI chr 1:227,957,363...227,965,312
Ensembl chr 1:227,957,302...227,965,386
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:20456312
RGD:4891145
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:11802251
RGD:5131281
NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
associated with hypersensitivity
RGD
PMID:11062147 , PMID:14594655
RGD:5131178 , RGD:7349354
NCBI chr 1:214,663,929...214,693,197
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
treatment
IEP ISO
mRNA,protein:increased expression:lung mRNA, protein:increased expression:lung
RGD
PMID:17590487 , PMID:21549818 , PMID:21780541 , PMID:14594655 , PMID:17698377
RGD:2324962 , RGD:7364729 , RGD:7349407 , RGD:7349354 , RGD:5131204
NCBI chr 1:214,725,482...214,756,653
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
protein:altered expression:sputum
RGD
PMID:11802783 , PMID:11587997
RGD:5131252 , RGD:7364763
NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
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Myb
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19198610
NCBI chr 1:16,658,178...16,690,135
Ensembl chr 1:16,659,442...16,687,817
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Mylk
myosin light chain kinase
ISO
RGD
PMID:17472811
RGD:4891492
NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
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Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphisms: : Asthma, Aspirin-Induced; DNA:polymorphism: :
RGD
PMID:16924569 , PMID:20602614
RGD:5131606 , RGD:5131600
NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
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Nfe2l2
nuclear factor, erythroid 2-like 2
severity
ISO
mRNA:increased expression:bronchoalveolar lavage cell, peripheral blood mononuclear cell (human)
RGD
PMID:21514635
RGD:6893376
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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Ngf
nerve growth factor
severity
ISO
protein:increased expression:blood, eosinophil protein:increased expression:lung, serum
RGD
PMID:12752594 , PMID:17164945 , PMID:17497413 , PMID:11737043
RGD:4891122 , RGD:4891108 , RGD:4891068 , RGD:4891123
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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Ngfr
nerve growth factor receptor
ISO
RGD
PMID:16603479 , PMID:12540484
RGD:5144070 , RGD:5144072
NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
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Nod1
nucleotide-binding oligomerization domain containing 1
susceptibility
ISO
DNA:SNP: :rs2075817 (human) DNA:insertion:cds:
RGD
PMID:16918516 , PMID:15718249
RGD:5131519 , RGD:5131518
NCBI chr 4:85,123,965...85,175,206
Ensembl chr 4:85,123,960...85,174,951
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Nod2
nucleotide-binding oligomerization domain containing 2
susceptibility
ISO
DNA:polymorphisms:intron, exon/3'UTR (rs1077861, rs3135500) (human)
RGD
PMID:16008671 , PMID:21051079
RGD:5131477 , RGD:5508757
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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Nos1
nitric oxide synthase 1
susceptibility
ISO
DNA:repeats:exon DNA:repeats:intron DNA:repeats: :
RGD
PMID:10833424 , PMID:14767694 , PMID:10673365 , PMID:20609134
RGD:5132860 , RGD:5132615 , RGD:5132869 , RGD:5132863
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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Nos2
nitric oxide synthase 2
disease_progression severity no_association
ISO IEP IMP
protein:increased expression:lung, bronchoalveolar lavage fluid CTD Direct Evidence: marker/mechanism protein:increased expression, increased activity:lung (rat) DNA:repeats:promoter associated with Rhinitis, Allergic, Seasonal; protein:increased expression:nasal mucosa DNA:SNP:exon:p.S608L (human) DNA:repeats:promoter, introns (human) mRNA:increased expression:monocyte DNA:repeat:promoter
CTD
PMID:19800904 , PMID:17161822 , PMID:21847581 , PMID:18714530 , PMID:18254476 , PMID:17177683 , PMID:17189532 , PMID:20842520 , PMID:16703578 , PMID:16540403 , PMID:20841959
RGD:4891927 , RGD:5509073 , RGD:4891508 , RGD:4891910 , RGD:4891925 , RGD:4891924 , RGD:4891419 , RGD:4891953 , RGD:4891957 , RGD:4891480
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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Nos3
nitric oxide synthase 3
susceptibility
ISO
DNA:snps, repeat, haplotype:promoter, introns, exons:multiple (human) DNA:polymorphisms:promoter:c. -786C>T, -691C>T (human) DNA:repeats:intron
RGD
PMID:18486767 , PMID:16837812 , PMID:16081038
RGD:4892053 , RGD:4892058 , RGD:4892062
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Npsr1
neuropeptide S receptor 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:608584
CTD OMIM ClinVar
PMID:15073379 PMID:15710598 PMID:15764725 PMID:16926187 , PMID:17702965 , PMID:18285428 , PMID:15073379
RGD:4891923 , RGD:4891922 , RGD:4891921
NCBI chr 8:25,246,174...25,483,582
Ensembl chr 8:25,246,292...25,482,647
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Npy
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9731035
NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097 Ensembl chr 4:79,557,854...79,565,097
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Nqo1
NAD(P)H quinone dehydrogenase 1
susceptibility
ISO
DNA:SNP:exon:c. 609C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNP:exon:c.609C>T (human)
CTD
PMID:20049212 , PMID:19027876 , PMID:19591959
RGD:5135006 , RGD:5135005
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
treatment susceptibility severity
ISO IDA
DNA:polymorphism:intron protein:increased expression, decreased activity:leukocyte, mononuclear
RGD
PMID:18396779 , PMID:20727335 , PMID:21113676 , PMID:18799869 , PMID:15295049
RGD:4892328 , RGD:7174728 , RGD:4892568 , RGD:4892594 , RGD:4892609
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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Ntf3
neurotrophin 3
ISO
protein:increased expression:lung, serum
RGD
PMID:11737043 , PMID:17497413
RGD:4891123 , RGD:4891068
NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
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Ntf4
neurotrophin 4
ISO
protein:increased expression:lung, serum
RGD
PMID:17497413
RGD:4891068
NCBI chr 1:101,405,314...101,408,145
Ensembl chr 1:101,405,314...101,408,145
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO IEP
mRNA:increased expression:lung:
RGD
PMID:20934630 , PMID:16708804
RGD:5684766 , RGD:5684772
NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
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Ormdl3
ORMDL sphingolipid biosynthesis regulator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21150878 PMID:25256354
NCBI chr10:86,545,910...86,554,478
Ensembl chr10:86,547,339...86,554,478
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P2ry12
purinergic receptor P2Y12
ISO
RGD
PMID:22010907 , PMID:19822647
RGD:6480532 , RGD:6480533
NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
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Parp1
poly (ADP-ribose) polymerase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism protein:increased activation:lung, blood, mononuclear cell
CTD
PMID:18261157 , PMID:12594058 , PMID:26205779 , PMID:26205779
RGD:5683910 , RGD:11073727 , RGD:11073727
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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Pdcd1
programmed cell death 1
treatment
ISO
associated with Chlamydia pneumonia
RGD
PMID:26378990
RGD:41412180
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845 Ensembl chr 9:101,307,764...101,319,845
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Pde4b
phosphodiesterase 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr 5:121,759,236...122,136,814
Ensembl chr 5:121,952,977...122,136,814
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Pde4d
phosphodiesterase 4D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19426955 PMID:21611147
NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
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Pdgfb
platelet derived growth factor subunit B
ISO IMP
protein: increased expression
RGD
PMID:21216974 , PMID:21216974
RGD:6483071 , RGD:6483071
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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Pgf
placental growth factor
ISO
RGD
PMID:22268141
RGD:6483605
NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
RGD
PMID:18754810
RGD:6482695
NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
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Pin1
peptidylprolyl cis/trans isomerase, NIMA-interacting 1
IMP
RGD
PMID:18188456
RGD:8693422
NCBI chr 8:21,669,236...21,680,615
Ensembl chr 8:21,669,236...21,680,615
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Pla2g4a
phospholipase A2 group IVA
IEP
RGD
PMID:15557087
RGD:1642462
NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
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Pla2g7
phospholipase A2 group VII
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma and atopy, susceptibility to
OMIM CTD ClinVar
PMID:10733466 PMID:15115767 , PMID:10733466
RGD:1581025
NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
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Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604 , PMID:18519237
RGD:4892037
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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Ppp2ca
protein phosphatase 2 catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22205926
NCBI chr10:37,534,449...37,554,861
Ensembl chr10:37,535,871...37,554,664
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Prf1
perforin 1
ISO IDA
RGD
PMID:22250087 , PMID:21426642
RGD:6482815 , RGD:6482818
NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
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Prg2
proteoglycan 2
severity disease_progression no_association
ISO
mRNA:increased expression:eosinophil: associated with cough;protein:increased expression:sputum: associated with viral infection;mRNA:increased expression:sputum:
RGD
PMID:16982448 , PMID:22022864 , PMID:24450586 , PMID:11067904
RGD:13506941 , RGD:13506944 , RGD:13506943 , RGD:13506942
NCBI chr 3:72,385,678...72,389,245
Ensembl chr 3:72,385,666...72,389,276
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Prmt1
protein arginine methyltransferase 1
IEP
mRNA:increased expression:lung
RGD
PMID:20423833
RGD:9491823
NCBI chr 1:100,971,132...100,980,411
Ensembl chr 1:100,971,273...100,980,340
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Prmt2
protein arginine methyltransferase 2
IEP
mRNA:increased expression:lung, spleen
RGD
PMID:20423833
RGD:9491823
NCBI chr20:13,154,513...13,212,613
Ensembl chr20:13,156,241...13,212,606
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Prmt3
protein arginine methyltransferase 3
IEP
mRNA:increased expression:lung
RGD
PMID:20423833
RGD:9491823
NCBI chr 1:105,113,595...105,200,253
Ensembl chr 1:105,113,595...105,200,470
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Prmt5
protein arginine methyltransferase 5
IEP
mRNA:increased expression:lung, spleen
RGD
PMID:20423833
RGD:9491823
NCBI chr15:33,156,508...33,165,893
Ensembl chr15:33,156,492...33,165,895
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
RGD
PMID:26381519
RGD:11099992
NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17982072
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Ptgdr
prostaglandin D2 receptor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr15:19,195,606...19,196,508
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Ptgdr2
prostaglandin D2 receptor 2
ISO
Aspirin exacerbated asthma CTD Direct Evidence: therapeutic
CTD
PMID:27103662 , PMID:19796209 , PMID:19392992 , PMID:18757520
RGD:5135020 , RGD:5135019 , RGD:5135018
NCBI chr 1:226,976,455...226,995,641
Ensembl chr 1:226,993,250...226,994,849
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Ptger3
prostaglandin E receptor 3
treatment
IMP
RGD
PMID:23221044
RGD:10043366
NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
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Ptgs2
prostaglandin-endoperoxide synthase 2
susceptibility severity
ISO IEP
mRNA:increased expression:lung DNA:SNP: :8473T>C (human) mRNA, protein:increased expression:lung: DNA:SNP: :rs689465 (human)
RGD
PMID:19878559 , PMID:15316498 , PMID:17573729 , PMID:18097056 , PMID:18489027 , PMID:19342146 , PMID:19862936
RGD:5135514 , RGD:5143931 , RGD:5143923 , RGD:5135534 , RGD:5135526 , RGD:5135522 , RGD:5135515
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Rad50
RAD50 double strand break repair protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241537
NCBI chr10:39,002,130...39,054,042
Ensembl chr10:39,001,498...39,054,142
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Rhoa
ras homolog family member A
IEP
RGD
PMID:18391481
RGD:2298885
NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
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Rnase3
ribonuclease A family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8874658 PMID:12153692 PMID:12587966
NCBI chr15:28,216,744...28,217,614
Ensembl chr15:28,216,744...28,217,614
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RT1-B
RT1 class II, locus B
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:21814517
RGD:13506911
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RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphisms (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism (human)
CTD
PMID:10792356 , PMID:12890388 , PMID:10051703 , PMID:11802952 , PMID:19052351
RGD:5147799 , RGD:1331670 , RGD:5147831 , RGD:5147617
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Bb
RT1 class II, locus Bb
susceptibility disease_progression no_association
ISO
Alternaria sensitive asthma DNA:polymorphisms: : CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human)
CTD
PMID:10792356 , PMID:20298583 , PMID:20159242 , PMID:20214848 , PMID:23331206 , PMID:11802952 , PMID:12890388 , PMID:19052351
RGD:4144113 , RGD:13506913 , RGD:4144181 , RGD:13506906 , RGD:5147831 , RGD:5147799 , RGD:5147617
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Da
RT1 class II, locus Da
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:20159242
RGD:13506913
NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
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RT1-Db1
RT1 class II, locus Db1
susceptibility no_association severity
ISO
DNA:polymorphisms: : CTD Direct Evidence: marker/mechanism DNA:polymorphism (human)
CTD
PMID:16792590 , PMID:19528258 , PMID:20159242 , PMID:23331206 , PMID:10051703 , PMID:19439981 , PMID:20486920 , PMID:20214848
RGD:4144196 , RGD:13506913 , RGD:13506906 , RGD:1331670 , RGD:5147663 , RGD:5147607 , RGD:4144181
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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RT1-Ha
RT1 class II, locus Ha
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:21814517
RGD:13506911
NCBI chr20:3,875,478...3,885,140
Ensembl chr20:3,875,706...3,881,461
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RT1-M3-1
RT1 class Ib, locus M3, gene 1
ISO
RGD
PMID:15611928
RGD:5144118
NCBI chr20:1,814,661...1,833,033
Ensembl chr20:1,814,661...1,818,800
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Runx1
RUNX family transcription factor 1
ISO
DNA:SNPs: :multiple
RGD
PMID:21803869
RGD:6482835
NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
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Runx3
RUNX family transcription factor 3
ISS
OMIM:600807
MouseDO
NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
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Scgb1a1
secretoglobin family 1A member 1
susceptibility
IEP ISO
mRNA,protein:decreased expression:bronchial alveolar lavage fluid, lung: ClinVar Annotator: match by term: Asthma, susceptibility to associated with allergic rhinitis; DNA:SNP:exon:38G>A (human) protein:decreased expression:serum
ClinVar
PMID:9550363 , PMID:12921604 , PMID:21255142 , PMID:15467329
RGD:5144052 , RGD:5144226 , RGD:5144148
NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
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Scgb3a2
secretoglobin, family 3A, member 2
susceptibility severity no_association
ISO
DNA:SNP:promoter:-112G>A (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:600807 mRNA,protein:decreased expression:;lung protein:increased expression:sputum
CTD OMIM ClinVar
PMID:11813133 , PMID:11813133 , PMID:15531759 , PMID:16456148 , PMID:17218572 , PMID:18089940 , PMID:18201431
RGD:5144229 , RGD:5128690 , RGD:5144233 , RGD:5144232 , RGD:5144231 , RGD:5144230
NCBI chr18:38,292,822...38,295,744
Ensembl chr18:38,292,701...38,295,831
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Sell
selectin L
ISO
RGD
PMID:21437035 , PMID:21515793
RGD:5685685 , RGD:5685696
NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
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Serpina1
serpin family A member 1
IEP
Fisher rats, shown to exhibit hyperactive airway responses at 14 days of age, had higher transcript and protein levels of Serpina1 than same age Brown Norway rats.
RGD
PMID:20118217
RGD:5131869
NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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Serpine1
serpin family E member 1
susceptibility no_association severity
IEP ISO
protein:increased activity, increased expression:plasma, lung DNA:polymorphism:promoter:rs1799768 (human) protein:increased expression:plasma
RGD
PMID:18594148 , PMID:19063817 , PMID:19604112 , PMID:19703828
RGD:4144836 , RGD:4144832 , RGD:4144833 , RGD:4144831
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Sftpa1
surfactant protein A1
IEP ISO
protein:decreased expression:lung, Clara cell, pneumocyte mRNA, protein:increased expression:lung
RGD
PMID:15816355 , PMID:16629790 , PMID:18802356 , PMID:18926058
RGD:4143398 , RGD:4143462 , RGD:4143516 , RGD:4143289
NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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Sftpb
surfactant protein B
ISO IEP
protein:increased expression:lung mRNA, protein:decreased expression:lung protein:decreased expression:lung, Clara cell
RGD
PMID:16629790 , PMID:11472974 , PMID:18926058 , PMID:15816355
RGD:4143462 , RGD:4143465 , RGD:4143289 , RGD:4143398
NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
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Sftpc
surfactant protein C
susceptibility
ISO
mRNA, protein:decreased expression:lung protein:increased expression:lung DNA:polymorphism: :p.A53T (human)
RGD
PMID:11472974 , PMID:16629790 , PMID:19910179
RGD:4143465 , RGD:4143462 , RGD:4144063
NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
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Sftpd
surfactant protein D
ISO IEP
protein:increased expression:lung associated with Bronchitis;protein:increased expression:lung mRNA, protein:increased expression:lung
RGD
PMID:16629790 , PMID:11472974 , PMID:18266831 , PMID:16839409 , PMID:18802356
RGD:4143462 , RGD:4143465 , RGD:4143517 , RGD:4143508 , RGD:4143516
NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
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Slc11a1
solute carrier family 11 member 1
ISO
RGD
PMID:12847242
RGD:5684966
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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Slc18a3
solute carrier family 18 member A3
IEP
RGD
PMID:17328924
RGD:5686690
NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
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Slc22a1
solute carrier family 22 member 1
IEP
RGD
PMID:17328924
RGD:5686690
NCBI chr 1:48,273,639...48,300,645
Ensembl chr 1:48,273,611...48,300,655
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Slc5a7
solute carrier family 5 member 7
IEP
mRNA:decreased expression:lung
RGD
PMID:17328924
RGD:5686690
NCBI chr 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815
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Slc6a4
solute carrier family 6 member 4
susceptibility
ISO
DNA:repeat:intron (human)
RGD
PMID:19806585
RGD:4889460
NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22867017
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Sod2
superoxide dismutase 2
ISO
RGD
PMID:15743779
RGD:1581231
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Stat4
signal transducer and activator of transcription 4
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28807506 , PMID:18211752
RGD:2317290
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
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Stat6
signal transducer and activator of transcription 6
treatment
IEP IDA
RGD
PMID:19087723 , PMID:16083555
RGD:7244151 , RGD:7244153
NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
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Tac1
tachykinin, precursor 1
ISO
protein:increased expression:lung
RGD
PMID:11031342
RGD:5147836
NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
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Tacr1
tachykinin receptor 1
IEP ISO
protein:increased expression:lung mRNA:increased expression:lung mRNA,protein:increased expression:lung
RGD
PMID:17392578 , PMID:8240667 , PMID:16409782
RGD:2304339 , RGD:5147645 , RGD:5147475
NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
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Tacr2
tachykinin receptor 2
ISO
DNA:SNP:cds:p.G231E (human)
RGD
PMID:20175803 , PMID:19880429
RGD:5147640 , RGD:5147641
NCBI chr20:31,892,515...31,905,153
Ensembl chr20:31,892,515...31,905,153
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Tap1
transporter 1, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:12640628
RGD:5147845
NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
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Tbx21
T-box transcription factor 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15806396
NCBI chr10:85,032,799...85,049,331
Ensembl chr10:85,032,799...85,049,331
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Tbxa2r
thromboxane A2 receptor
susceptibility severity
ISO
DNA:polymorphism:cds:924T>C(human)
GAD RGD
PMID:15118671 , PMID:12000493 , PMID:15805995
RGD:1331525 , RGD:11059535 , RGD:11059534
NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
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Tgfb1
transforming growth factor, beta 1
onset no_association
ISO IEP
DNA:SNP: :-509C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:promoter, exon:multiple (human) DNA:SNP:cds:915G>C (human) mRNA:increased expression:lung protein:increased expression:serum DNA:polymorphisms: :multiple (human) DNA:polymorphism: :-509C>T (human)
CTD
PMID:16365456 PMID:19138248 , PMID:17673695 , PMID:18366906 , PMID:19096005 , PMID:19620629 , PMID:19046298 , PMID:20485865 , PMID:19317336 , PMID:19136038 , PMID:18711258 , PMID:19222424 , PMID:19533439
RGD:4145295 , RGD:4145280 , RGD:4145143 , RGD:4145132 , RGD:4145142 , RGD:4145113 , RGD:4145139 , RGD:4145144 , RGD:4143443 , RGD:4145299 , RGD:4145297
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Thbd
thrombomodulin
ISO
RGD
PMID:20709825
RGD:5684984
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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Timp3
TIMP metallopeptidase inhibitor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16926187
NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
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Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:SNP (human)
RGD
PMID:18547625
RGD:4889528
NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
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Tlr10
toll-like receptor 10
susceptibility
ISO
DNA:SNP (human)
RGD
PMID:18547625
RGD:4889528
NCBI chr14:45,073,652...45,082,242
G
Tlr2
toll-like receptor 2
susceptibility severity
ISO
DNA:SNP: :596T>C (human) DNA:polymorphism:cds:p.R753Q(human) DNA:SNP: :rs3804100 (human) DNA:SNP: :rs7656411 (human) DNA:SNP: :rs4696480 (human)
RGD
PMID:19096003 , PMID:22402138 , PMID:19148143 , PMID:18202345 , PMID:20815312 , PMID:20685742 , PMID:18787777
RGD:4144228 , RGD:7800732 , RGD:2312679 , RGD:4145343 , RGD:4145352 , RGD:4144171 , RGD:4145334
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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Tlr3
toll-like receptor 3
no_association
ISO IMP
Asthma, Virus-Induced; mRNA:increased expression:sputum (human) DNA:snp:cds:p.L412F (human)
RGD
PMID:21129050 , PMID:17434873 , PMID:14987294 , PMID:17610940 , PMID:21364926
RGD:5129226 , RGD:5129478 , RGD:5129493 , RGD:5129475 , RGD:5128500
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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Tlr4
toll-like receptor 4
susceptibility no_association severity
ISO
DNA:Polymorphism:cds:p.D299G (human) DNA:SNPs:: protein:decreased expression:leukocytes, mononuclear DNA:SNPs: :rs10983755, rs1927914 (human) DNA:polymorphisms:cds:c.896A>G, 1196C>T (human)
RGD
PMID:15356557 , PMID:20628601 , PMID:20685742 , PMID:19067129 , PMID:19330007 , PMID:19159017 , PMID:16266379
RGD:4144817 , RGD:4144176 , RGD:4144171 , RGD:4144190 , RGD:4144141 , RGD:4144188 , RGD:4144198
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:SNP (human) DNA:SNP: :p.S249P (human)
RGD
PMID:18547625 , PMID:15266299
RGD:4889528 , RGD:4889538
NCBI chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446
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Tlr9
toll-like receptor 9
no_association susceptibility severity
ISO
DNA:SNP:promoter:g.-1237T>C rs5743836 (human) DNA:snp:promoter:g.-1237T>C rs5743836 (human) protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21324137 , PMID:18312481 , PMID:20016192 , PMID:20072849
RGD:5130712 , RGD:4144208 , RGD:5129104 , RGD:4889523
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Tnc
tenascin C
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) protein:increased expression:bronchus basement membrane DNA:SNP:exon:p.L1677I (human)
CTD
PMID:16115819 , PMID:17125141 , PMID:18305139 , PMID:9310019 , PMID:16115819
RGD:4889565 , RGD:4889589 , RGD:4889572 , RGD:4889569
NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
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Tnf
tumor necrosis factor
susceptibility no_association
ISO
DNA:polymorphism:promoter: c. -308A>G (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:600807 associated with obesity; DNA:polymorphism:promoter DNA:polymorphisms:: rs1799964, rs1799724 (human) DNA:polymorphisms: : associated with nasal polys; protein:increased expression:nose DNA:polymorphism:promoter:c.-863C > A (human)
OMIM CTD ClinVar
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 PMID:11826025 PMID:11896460 PMID:12356572 PMID:12485196 PMID:12746914 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16456144 PMID:16865291 PMID:17450233 PMID:20049212 , PMID:18711258 , PMID:19196817 , PMID:16393274 , PMID:12530118 , PMID:18811622 , PMID:18763028 , PMID:20465535 , PMID:16728705
RGD:4143443 , RGD:4143238 , RGD:4145508 , RGD:4143254 , RGD:4143240 , RGD:4142802 , RGD:4143369 , RGD:4143372
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:lung (mouse)
RGD
PMID:20484920
RGD:5131201
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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Tnip1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24453940
NCBI chr10:40,255,776...40,303,092
Ensembl chr10:40,255,776...40,296,470
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Trpa1
transient receptor potential cation channel, subfamily A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19458046
NCBI chr 5:3,783,247...3,836,485
Ensembl chr 5:3,783,247...3,836,485
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Tslp
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21804549
NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
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Ucn
urocortin
IEP
associated with Hypersensitivity;mRNA, protein:increased expression:lung
RGD
PMID:16427607
RGD:1642781
NCBI chr 6:26,602,144...26,602,974
Ensembl chr 6:26,602,144...26,602,974
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Uts2
urotensin 2
IEP
RGD
PMID:17045018
RGD:2306832
NCBI chr 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
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Vdr
vitamin D receptor
no_association
ISO
DNA:SNP: :rs7975232 (human) DNA:SNP (human) DNA:SNPs: :multiple (human) DNA:SNPs (human)
RGD
PMID:19622139 , PMID:21103062 , PMID:15282200 , PMID:20124605
RGD:4889868 , RGD:4889866 , RGD:4889854 , RGD:4889867
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:sputum CTD Direct Evidence: marker/mechanism
CTD
PMID:11907124 PMID:15201500 PMID:19263519 , PMID:19178538
RGD:6892723
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Vip
vasoactive intestinal peptide
IDA ISO
RGD
PMID:21419198 , PMID:16782752
RGD:5685381 , RGD:5685620
NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
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Wdr36
WD repeat domain 36
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19198610
NCBI chr18:25,637,475...25,665,801
Ensembl chr18:25,637,588...25,665,639
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RT1-Da
RT1 class II, locus Da
susceptibility
ISO
DNA:SNPs,haplotype:introns:
RGD
PMID:22391069
RGD:13506908
NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
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Tbx21
T-box transcription factor 21
ISO
ClinVar Annotator: match by null
ClinVar
PMID:15806396
NCBI chr10:85,032,799...85,049,331
Ensembl chr10:85,032,799...85,049,331
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Alox15
arachidonate 15-lipoxygenase
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:17959182 PMID:21558275 PMID:30643255
NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
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Ptger2
prostaglandin E receptor 2
ISO
OMIM
NCBI chr15:19,336,029...19,349,759
Ensembl chr15:19,338,175...19,350,210
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Tbx21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
OMIM ClinVar
PMID:25741868
NCBI chr10:85,032,799...85,049,331
Ensembl chr10:85,032,799...85,049,331
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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10194187
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Btnl2
butyrophilin-like 2
susceptibility
ISO
DNA:SNP: :rs3117099(human) CTD Direct Evidence: marker/mechanism
CTD
PMID:17927685 , PMID:17927685
RGD:9685029
NCBI chr20:4,140,184...4,156,365
Ensembl chr20:4,141,878...4,154,978
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Ccr5
C-C motif chemokine receptor 5
disease_progression
ISO
DNA:polymorphisms:5' utr:multiple (human)
RGD
PMID:20075058
RGD:4892065
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Cd28
Cd28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12952926
NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
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Gclm
glutamate cysteine ligase, modifier subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16766924
NCBI chr 2:225,827,504...225,847,876
Ensembl chr 2:225,827,504...225,847,874
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Hmox1
heme oxygenase 1
ISO
protein:increased activity:sputum
RGD
PMID:19453654
RGD:4145349
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Il2ra
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8977230
NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8428540
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16272364 PMID:17927685
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Tgfb1
transforming growth factor, beta 1
severity
ISO
DNA:polymorphisms: :-509C>T (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:15750822 PMID:17785866 , PMID:17785866
RGD:4145294
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8428540 PMID:12449171 PMID:15127972 PMID:16980557
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:15881280
RGD:5131172
NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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Ccl26
C-C motif chemokine ligand 26
severity
ISO
protein:increased expression:sputum (human)
RGD
PMID:25936567
RGD:11531115
NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
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Epx
eosinophil peroxidase
treatment
ISO
RGD
PMID:28751233
RGD:13506890
NCBI chr10:75,160,690...75,171,774
Ensembl chr10:75,160,690...75,171,774
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Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:10984370
RGD:4890423
NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, secretion (human)
RGD
PMID:19996575
RGD:4892021
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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Tacr1
tachykinin receptor 1
ISO
RGD
PMID:8630576
RGD:5147837
NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
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Acsl3
acyl-CoA synthetase long-chain family member 3
ISO
RGD
PMID:23526225
RGD:13831300
NCBI chr 9:84,569,601...84,593,565
Ensembl chr 9:84,569,597...84,593,565
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Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:29713367
RGD:13792581
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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Cd86
CD86 molecule
treatment
ISO
RGD
PMID:25344652
RGD:11354965
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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Fas
Fas cell surface death receptor
treatment
IEP
RGD
PMID:29713367
RGD:13792581
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Faslg
Fas ligand
treatment
IEP
RGD
PMID:29713367
RGD:13792581
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
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Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:19935773 , PMID:26344076
RGD:5037240 , RGD:11251537
NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
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Ace
angiotensin I converting enzyme
ISO
protein:increased expression:plasma
RGD
PMID:19218674
RGD:4140920
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, secretion (mouse) mRNA:increased expression:lung:bronchoalveolar lavage cell (human)
RGD
PMID:16387809 , PMID:10384061
RGD:4891434 , RGD:4891436
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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Ccl7
C-C motif chemokine ligand 7
ISO
RGD
PMID:20027288
RGD:5130978
NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:19842835
RGD:4145620
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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Cd86
CD86 molecule
ISO
associated with Paramyxoviridae Infections; protein:increased expression:lung (mouse)
RGD
PMID:19282343
RGD:4892294
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
mRNA:increased expression:alveolar macrophage
RGD
PMID:14991597 , PMID:15725351
RGD:5135448 , RGD:5135490
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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Cxcl11
C-X-C motif chemokine ligand 11
ISO
RGD
PMID:14991597
RGD:5135448
NCBI chr14:17,195,395...17,198,170
Ensembl chr14:17,195,014...17,198,291
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
mRNA:increased expression:alveolar macrophage
RGD
PMID:14991597 , PMID:15725351
RGD:5135448 , RGD:5135490
NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:14991597 , PMID:19842835
RGD:5135448 , RGD:4145620
NCBI chr X:71,614,346...71,616,997
Ensembl chr X:71,614,346...71,616,997
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
mRNA:decreased expression:leukocyte
RGD
PMID:20514434
RGD:4892076
NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
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Il13
interleukin 13
IMP ISO
mRNA:increased expression:lung
RGD
PMID:9916735 , PMID:20861649
RGD:4145650 , RGD:5128548
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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Il17a
interleukin 17A
ISO
associated with Silicosis
RGD
PMID:20421647 , PMID:19151189
RGD:4888525 , RGD:4889106
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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Il17ra
interleukin 17 receptor A
ISO
RGD
PMID:19414809
RGD:5144217
NCBI chr 4:152,995,865...153,018,394
Ensembl chr 4:152,995,865...153,018,394
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Il1a
interleukin 1 alpha
ISO
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:10882225
RGD:4142832
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il1b
interleukin 1 beta
disease_progression
ISO IMP
protein:increased expression:serum (human)
RGD
PMID:19556641 , PMID:1519663
RGD:4142842 , RGD:7401229
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il5
interleukin 5
ISO
protein:increased expression:lung,respiratory system fluid/secretion
RGD
PMID:19151189
RGD:4889106
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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Nos2
nitric oxide synthase 2
ISO
protein:increased expression:lung
RGD
PMID:11789718
RGD:4891449
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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Sftpa1
surfactant protein A1
ISO
protein:decreased expression:lung
RGD
PMID:10543276
RGD:4143437
NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10673208
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Tap1
transporter 1, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphisms:cds:P. D637G, P661P (human)
RGD
PMID:18342853
RGD:5147840
NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
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Tlr6
toll-like receptor 6
ISO
RGD
PMID:20070409
RGD:4889532
NCBI chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446
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Tnc
tenascin C
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:9780295
RGD:4889595
NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
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Tnf
tumor necrosis factor
ISO
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:10882225 , PMID:15653992
RGD:4142832 , RGD:4143466
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:alveolar macrophage (human)
RGD
PMID:15929959
RGD:5131148
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
protein:increased expression:alveolar macrophage (human)
RGD
PMID:15929959
RGD:5131148
NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:15764076
RGD:5684419
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Il12b
interleukin 12B
ISO
RGD
PMID:12084045
RGD:4145430
NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
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Tnf
tumor necrosis factor
ISO
protein:increased secretion:macrophage DNA:polymorphism:promoter
RGD
PMID:8466130 , PMID:11179110
RGD:4143375 , RGD:4143374
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Havcr1
hepatitis A virus cellular receptor 1
ISO
ClinVar Annotator: match by term: Atopy, resistance to
ClinVar
PMID:14534576 PMID:21339644
NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
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Il17a
interleukin 17A
ISO
associated with Nasal Polyps;protein:increased expression:nasal polyps (human)
RGD
PMID:24141678
RGD:9068428
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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Il21r
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Ige responsiveness, atopic ClinVar Annotator: match by term: Ige, elevated level of
OMIM ClinVar
PMID:12700598 PMID:25741868 PMID:28492532
NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
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Il4r
interleukin 4 receptor
ISO
ClinVar Annotator: match by term: Ige responsiveness, atopic ClinVar Annotator: match by term: Atopy, susceptibility to ClinVar Annotator: match by term: Atopy, resistance to
OMIM ClinVar
PMID:2278997 PMID:2307934 PMID:9392697 PMID:9515586 PMID:9537881 PMID:9620765 PMID:10233717 PMID:10905893 PMID:11709756 PMID:15173254 PMID:15712015 PMID:16189667 PMID:25741868 PMID:28492532
NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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Ms4a2
membrane spanning 4-domains A2
ISO
OMIM
NCBI chr 1:227,957,363...227,965,312
Ensembl chr 1:227,957,302...227,965,386
G
Pla2g7
phospholipase A2 group VII
ISO
OMIM
NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
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Cdh17
cadherin 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25918132
NCBI chr 5:25,354,187...25,443,675
Ensembl chr 5:25,391,115...25,443,718
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Herc2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25918132
NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793
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Pla2g4a
phospholipase A2 group IVA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27504716
NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
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Prkca
protein kinase C, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27504716
NCBI chr10:96,186,509...96,585,168
Ensembl chr10:96,191,133...96,584,947
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Prkd1
protein kinase D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27504716
NCBI chr 6:71,035,017...71,349,531
Ensembl chr 6:71,035,332...71,349,249
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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RT1-B
RT1 class II, locus B
susceptibility
ISO
DNA:SNP: : rs928976(human)
RGD
PMID:24709764
RGD:13506912
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RT1-DOa
RT1 class II, locus DOa
treatment
ISO
DNA:SNP: :rs3128935(human)
RGD
PMID:24709764
RGD:13506912
NCBI chr20:3,889,106...3,892,360
Ensembl chr20:3,889,370...3,892,449
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RT1-S3
RT1 class Ib, locus S3
susceptibility
ISO
DNA:SNP: :rs1573294(human)
RGD
PMID:24709764
RGD:13506912
NCBI chr20:3,176,124...3,180,825
Ensembl chr20:3,176,107...3,179,818
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Tenm3
teneurin transmembrane protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25918132
NCBI chr16:46,422,676...46,929,023
Ensembl chr16:46,731,403...46,926,245
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 Ensembl chr20:5,189,390...5,192,000
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:decreased expression:serum
RGD
PMID:19725899
RGD:5686851
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19389874
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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Alox5ap
arachidonate 5-lipoxygenase activating protein
ISO
protein:increased expression:nasal turbinate
RGD
PMID:19364335
RGD:5147461
NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
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Cat
catalase
ISO
protein:decreased expression:plasma
RGD
PMID:20493834
RGD:5130771
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:nasal turbinate, mucosa (human)
RGD
PMID:9865755
RGD:8548839
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Ccr2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:Nasal Mucosa
RGD
PMID:17982926
RGD:4145109
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Ccr5
C-C motif chemokine receptor 5
ISO
mRNA:increased expression:nasal mucosa (human)
RGD
PMID:17982926
RGD:4145109
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Cd40
CD40 molecule
ISO
RGD
PMID:20226305
RGD:5132269
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Cd86
CD86 molecule
ISO
protein:increased expression:nasal mucosa, dendritic cell (human)
RGD
PMID:17088138
RGD:4892343
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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Chia
chitinase, acidic
ISO
mRNA, protein:increased expression:turbinate, mucosa (human)
RGD
PMID:20422678
RGD:5037226
NCBI chr 2:208,750,348...208,797,388
Ensembl chr 2:208,749,996...208,797,402
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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 chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
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F2rl1
F2R like trypsin receptor 1
ISO
RGD
PMID:17727088
RGD:4892590
NCBI chr 2:25,222,324...25,235,275
Ensembl chr 2:25,222,328...25,235,275
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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 chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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Hmox1
heme oxygenase 1
ISO
mRNA, protein:increased expression: nasal mucosa
RGD
PMID:16540907
RGD:4145406
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung, endothelium (mouse) protein:increased secretion:nasopharynx (human)
RGD
PMID:19968652 , PMID:19047814
RGD:4145464 , RGD:4145520
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Ifngr1
interferon gamma receptor 1
ISO
DNA: SNP: Leu467Pro
RGD
PMID:12851715
RGD:6480431
NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
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Il13
interleukin 13
ISO
mRNA, protein:increased expression:nasal mucosa
RGD
PMID:8520776
RGD:4782826
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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Il17a
interleukin 17A
severity
ISO
protein:increased expression:serum
RGD
PMID:19226302
RGD:4889151
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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Il18
interleukin 18
susceptibility
ISO
DNA:SNP:promoter:c. -607A>C (rs1946518) (human)
RGD
PMID:16406079
RGD:4889924
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1a
interleukin 1 alpha
ISO
DNA:polymorphism:exon:c.4845G>T (human)
RGD
PMID:14533660
RGD:4142859
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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Il1r1
interleukin 1 receptor type 1
ISO
RGD
PMID:18637763
RGD:5037238
NCBI chr 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670
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Il2
interleukin 2
ISO
protein:decreased expression:serum:
RGD
PMID:17608155
RGD:8662959
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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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 chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il5
interleukin 5
ISO
protein: increased levels: sputum
RGD
PMID:22186238
RGD:5687140
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:nasal mucosa:
RGD
PMID:19786210
RGD:5130872
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:nasal mucosa:
RGD
PMID:19786210
RGD:5130872
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Nos2
nitric oxide synthase 2
ISO
protein:increased expression:nasal mucosa
RGD
PMID:14587983
RGD:4892078
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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Nos3
nitric oxide synthase 3
ISO
DNA:snp:promoter:g.-786T>C (human)
RGD
PMID:18086269
RGD:4892054
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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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 chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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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 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
protein:increased expression:respiratory system epithelium
RGD
PMID:19364335
RGD:5147461
NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
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Tbxa2r
thromboxane A2 receptor
treatment
ISO
RGD
PMID:15247523
RGD:11059532
NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
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Pla2g7
phospholipase A2 group VII
ISO
ClinVar Annotator: match by term: Platelet-activating factor acetylhydrolase deficiency
ClinVar OMIM
PMID:8675689 PMID:9412624 PMID:10194471 PMID:10733466 PMID:16787988 PMID:25741868 PMID:28406212
NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 (human)
RGD
PMID:15577839
RGD:5147654
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:16677242
RGD:5147463
NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
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Apoa4
apolipoprotein A4
resistance
ISO
protein:increased expression:blood serum (human)
RGD
PMID:20810159
RGD:5685642
NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
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Bdnf
brain-derived neurotrophic factor
severity
ISO
protein:increased expression:blood, nasal cavity epithelium
RGD
PMID:18266897
RGD:5144117
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
G
Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased expression:inferior turbinate, epithelium (human)
RGD
PMID:20459697
RGD:4891379
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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Cma1
chymase 1
ISO
protein:increased expression:nasal mucosa, mast cell (human)
RGD
PMID:11549546
RGD:5128839
NCBI chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
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Fga
fibrinogen alpha chain
ISO
RGD
PMID:21887273
RGD:5688767
NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
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Gsto1
glutathione S-transferase omega 1
ISO
protein:decreased expression;T lymphocyte:
RGD
PMID:21410266
RGD:5491008
NCBI chr 1:267,607,437...267,617,387
Ensembl chr 1:267,607,418...267,617,387
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased secretion:nasopharynx, secretion (human)
RGD
PMID:20128420
RGD:4145459
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
Ifngr1
interferon gamma receptor 1
ISO
DNA: SNP: Leu467Pro
RGD
PMID:12851715
RGD:6480431
NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
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Il10
interleukin 10
treatment
ISO
RGD
PMID:19505388
RGD:7365025
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il4
interleukin 4
ISO
protein:increased expression:serum mRNA:increased expression:nose:
RGD
PMID:9237816 , PMID:7551298
RGD:7829817 , RGD:8662960
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:nasal cavity of mucosa:
RGD
PMID:17651148
RGD:8551771
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
G
Mc1r
melanocortin 1 receptor
no_association
ISO
RGD
PMID:20357480
RGD:5687317
NCBI chr19:56,215,420...56,219,987
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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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Nod1
nucleotide-binding oligomerization domain containing 1
susceptibility
ISO
DNA:SNP: :rs2075817 (human)
RGD
PMID:16918516
RGD:5131519
NCBI chr 4:85,123,965...85,175,206
Ensembl chr 4:85,123,960...85,174,951
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Nod2
nucleotide-binding oligomerization domain containing 2
susceptibility
ISO
DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human)
RGD
PMID:16008671
RGD:5131477
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
protein:increased expression:respiratory system epithelium
RGD
PMID:19364335
RGD:5147461
NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
G
RT1-Bb
RT1 class II, locus Bb
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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Scgb1a1
secretoglobin family 1A member 1
ISO
mRNA, protein:decreased expression:nasal lavage fluid
RGD
PMID:15836756
RGD:5144234
NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
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Tlr3
toll-like receptor 3
ISO
protein:decreased expression:bone marrow, blood, eosinophil (human)
RGD
PMID:19752565
RGD:5129130
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
G
Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphisms:cds:p.D299G, T399I (human)
RGD
PMID:18517079
RGD:4144192
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
G
Vegfa
vascular endothelial growth factor A
ISO
mRNA,protein:increased expression:nasal biopsies,nasal lavage fluid:
RGD
PMID:12633568
RGD:7483595
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
G
Pnpla6
patatin-like phospholipase domain containing 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23418070
NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
G
Ifng
interferon gamma
resistance
ISO
RGD
PMID:20817868
RGD:4145651
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
Il1b
interleukin 1 beta
ISO
protein:increased expression:lung
RGD
PMID:9927362
RGD:4143184
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il5
interleukin 5
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:10934091
RGD:4890960
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
G
Mpo
myeloperoxidase
ISO
protein:increased expression:serum
RGD
PMID:10731862
RGD:5130994
NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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