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: asthma
Accession: DOID:2841
browse the term
Definition: A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. (DO)
Synonyms: exact_synonym: AS1; asthmas; bronchial asthma
narrow_synonym: ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN; adult onset asthma; airway hyperresponsiveness
related_synonym: ASRT1; ASRT2; ASRT3; ASRT4; ASRT5; ASRT6; ASRT7; ASRT8; Asthma-Related Traits, Susceptibility To, 1; Asthma-Related Traits, Susceptibility To, 2; Asthma-Related Traits, Susceptibility To, 3; Asthma-Related Traits, Susceptibility To, 4; Asthma-Related Traits, Susceptibility To, 5; Asthma-Related Traits, Susceptibility To, 6; Asthma-Related Traits, Susceptibility To, 7; Asthma-Related Traits, Susceptibility To, 8; allergic airway inflammation; asthma and allergic rhinitis, susceptibility to; asthma and atopy, susceptibility to; asthma, protection against; asthma, susceptibility to; asthma-traits, susceptibility to asthma, protection against; beta-2-adrenoreceptor agonist, reduced response to; childhood athma, susceptibility to; rhinoconjunctivitis, susceptibility to
primary_id: MESH:D001249
alt_id: MIM:600807 ; MIM:601690 ; MIM:607277 ; MIM:608584 ; MIM:609958 ; MIM:610906 ; MIM:611064 ; MIM:611403 ; MIM:611960 ; MIM:613207
xref: EFO:0000270 ; EFO:0005414 ; EFO:1002011 ; GARD:10246 ; ICD10CM:J45 ; ICD9CM:493 ; MONDO:0004979 ; NCI:C28397
For additional species annotation, visit the
Alliance of Genome Resources .
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ABCB1
ATP-binding cassette, sub-family B (MDR/TAP), member 1
ISO
protein:increased expression:blood, lymphocyte
RGD
PMID:19484671
RGD:4890020
NCBI chr 9:93,049,955...93,146,469
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ABCC1
ATP binding cassette subfamily C member 1
ISO
RGD
PMID:18931056
RGD:5128825
NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,873...28,473,456
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ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
no_association
ISO
RGD
PMID:16008680 PMID:19771478
RGD:5128831 RGD:5128835
NCBI chr 1:272,912,239...272,935,316
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ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:19383228 PMID:19484664
RGD:4140913 RGD:4140919
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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ACSL3
acyl-CoA synthetase long chain family member 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:19221603
RGD:13831295
NCBI chr15:124,741,986...124,816,955
Ensembl chr15:124,765,854...124,816,960
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ADA
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms (human)
RGD
PMID:16754522
RGD:5128848
NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
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ADAM33
ADAM metallopeptidase domain 33
no_association disease_progression susceptibility
ISO
DNA:SNPs:introns,exon:7575G>A, 11188A>T, 12433T>C (human) mRNA:increased expression:bronchus DNA:SNPs: :multiple (human) mRNA:increased expression:lung DNA:polymorphism: :p.M764T (human) DNA:SNPs (human)
RGD
PMID:16893396 PMID:17339047 PMID:17961406 PMID:18778489 PMID:19635592 PMID:19940503 More...
RGD:4145359 RGD:4145360 RGD:4145378 RGD:4145379 RGD:4145380 RGD:4145382
NCBI chr17:32,023,102...32,038,464
Ensembl chr17:32,023,091...32,037,880
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ADAM8
ADAM metallopeptidase domain 8
severity
ISO
mRNA:increased expression:bronchus mRNA:increased expression:respiratory tract
RGD
PMID:17339047 PMID:19373511 PMID:20194813
RGD:4145380 RGD:5128872 RGD:5128878
NCBI chr14:141,221,177...141,233,728
Ensembl chr14:141,221,198...141,232,306
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ADCY2
adenylate cyclase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr16:74,305,729...74,729,999
Ensembl chr16:74,306,418...74,729,974
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ADCYAP1R1
ADCYAP receptor type I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21059121
NCBI chr18:41,915,180...41,972,327
Ensembl chr18:41,917,428...41,972,301
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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:15919956 PMID:17543375 PMID:19395503 PMID:19514054
RGD:5128882 RGD:5128890 RGD:5128891 RGD:5128892
NCBI chr 8:121,266,794...121,282,313
Ensembl chr 8:121,266,764...121,282,310
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:19168697
RGD:5686821
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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ADORA1
adenosine A1 receptor
ISO
DNA:SNPs: :1405C>T (human) protein:increased expression:bronchus
RGD
PMID:17959644 PMID:19019667 PMID:20400685
RGD:4145444 RGD:4890386 RGD:5129097
NCBI chr 9:113,835,279...113,875,899
Ensembl chr 9:113,835,921...113,872,365
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ADORA2A
adenosine A2a receptor
ISO
DNA:SNP (human) mRNA:decreased expression:aorta
RGD
PMID:16339780 PMID:17293374 PMID:18310516 PMID:19019667
RGD:4890366 RGD:4890380 RGD:4890385 RGD:4890386
NCBI chr14:49,467,186...49,485,845
Ensembl chr14:49,468,877...49,485,850
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ADRB2
adrenoceptor beta 2
susceptibility
ISO
ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to DNA:SNP: :-1023A>G (human)
ClinVar RGD
PMID:8383511 PMID:15284533 PMID:16596417 PMID:19638684
RGD:4145081
NCBI chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731
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AGER
advanced glycosylation end-product specific receptor
onset treatment
ISO
protein:decreased expression:lung (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21920897 PMID:23304218 PMID:33075463
RGD:6767554 RGD:7244279
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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AGTR1
angiotensin II receptor type 1
ISO
RGD
PMID:17877756 PMID:19080339
RGD:5147452 RGD:5147457
NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105
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AGTR2
angiotensin II receptor type 2
ISO
mRNA, protein:increased expression:lung
RGD
PMID:19080339
RGD:5147457
NCBI chr X:95,267,709...95,272,237
Ensembl chr X:95,269,300...95,270,388
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ALDH2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9600491 PMID:11506308
NCBI chr14:39,902,317...39,933,113
Ensembl chr14:39,896,565...39,933,124
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ALOX5
arachidonate 5-lipoxygenase
severity no_association treatment
ISO
DNA:repeat:promoter (human) DNA:polymorphism:promoter (human)
RGD OMIM
PMID:10369259 PMID:12911785 PMID:16364163 PMID:20128419
RGD:4890407 RGD:4890415 RGD:5147465 RGD:734557
NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,019...90,907,090
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ALOX5AP
arachidonate 5-lipoxygenase activating protein
no_association susceptibility
ISO
DNA:substitution, repeat:promoter:-336G>A, -169(A)19-23 (human) mRNA:increased expression:blood, leukocyte DNA:SNPs (human) DNA:SNP: :rs10507391 (human) protein:increased expression:lung DNA:polymorphism:promoter (human) DNA:repeat:promoter:-169(A)21 (human) DNA:polymorphisms:intron:IVS2+12C>A, IVS2+105T>C (human)
RGD
PMID:8879219 PMID:9642160 PMID:10527888 PMID:11035107 PMID:12911785 PMID:15784112 PMID:18547289 PMID:20067482 PMID:20128419 More...
RGD:4890405 RGD:4890407 RGD:4890409 RGD:4890422 RGD:5147462 RGD:5147464 RGD:5147465 RGD:5147466 RGD:5147467
NCBI chr11:7,371,328...7,438,111
Ensembl chr11:7,411,644...7,438,108
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AMBP
alpha-1-microglobulin/bikunin precursor
ISO
protein:increased expression:serum
RGD
PMID:14621078
RGD:6904149
NCBI chr 1:254,683,885...254,703,220
Ensembl chr 1:254,683,891...254,703,225
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AMCF-II
alveolar macrophage-derived chemotactic factor-II
ISO
RGD
PMID:9620668
RGD:5135265
NCBI chr 8:70,008,225...70,010,360
Ensembl chr 8:70,008,162...70,010,358
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ANG
angiogenin
severity
ISO
protein:increased expression:sputum
RGD
PMID:16478840
RGD:6892719
NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138
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ANXA1
annexin A1
ISO
RGD
PMID:22092555
RGD:7421657
NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279
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AREG
amphiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15696081
NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102
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ARG1
arginase 1
ISO
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:lung, mononuclear cell (human) DNA:SNP: :rs2781667 (human) mRNA:increased expression:lung (mouse)
CTD RGD
PMID:12813022 PMID:19281908 PMID:19800904 PMID:20124949
RGD:4143187 RGD:5129205
NCBI chr 1:32,006,035...32,028,983
Ensembl chr 1:32,006,046...32,028,988
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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)
RGD CTD
PMID:12813022 PMID:16387594 PMID:19281908 PMID:20124949
RGD:4143187 RGD:5129205 RGD:5129207
NCBI chr 7:91,343,987...91,385,911
Ensembl chr 7:91,343,988...91,385,909
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BCL2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18357729
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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BDKRB2
bradykinin receptor B2
onset
ISO
protein:increased expression:blood, eosinophil DNA:polymorphism:exon (human)
RGD
PMID:8856156 PMID:11517947 PMID:14727005 PMID:19038786
RGD:4890454 RGD:4890456 RGD:4891028 RGD:4891042
NCBI chr 7:117,438,622...117,472,005
Ensembl chr 7:117,438,713...117,472,005
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BDNF
brain derived neurotrophic factor
severity susceptibility
ISO
protein:increased expression:plasma DNA:polymorphisms: :p.V66M (rs6265) (human) protein:decreased expression:blood, eosinophil DNA:polymorphisms: :p.V66M, -270C>T (human) DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human)
RGD
PMID:11737043 PMID:12752594 PMID:17584309 PMID:19895626 PMID:20874832 PMID:21723144 More...
RGD:4891063 RGD:4891067 RGD:4891117 RGD:4891122 RGD:4891123 RGD:8655967
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
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BMPR1B
bone morphogenetic protein receptor type 1B
ISO
protein:decreased expression:bronchus
RGD
PMID:18292470
RGD:5129470
NCBI chr 8:124,536,648...125,035,841
Ensembl chr 8:124,536,653...124,759,406
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BMPR2
bone morphogenetic protein receptor type 2
ISO
protein:decreased expression:bronchus
RGD
PMID:18292470
RGD:5129470
NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730
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C3
complement C3
severity
ISO
protein:increased expression:respiratory system fluid/secretion DNA:SNP: :4896C>T (human) Interaction with IL4RA DNA:SNP:intron:rs11569562 (human) protein:increased expression:serum DNA:SNPs: :multiple (human)
RGD
PMID:11591733 PMID:15278436 PMID:16355111 PMID:18566738 PMID:20395963 PMID:20402389 PMID:20589464 PMID:20802484 More...
RGD:5129501 RGD:5129505 RGD:5129512 RGD:5129517 RGD:5129519 RGD:5129537 RGD:5129538 RGD:5129681
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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C3AR1
complement C3a receptor 1
severity
ISO
mRNA:increased expression:lung protein:increased expression:lung, leukocyte
RGD
PMID:15278436 PMID:15940127 PMID:17544263 PMID:20045013 PMID:20802484
RGD:5129512 RGD:5129560 RGD:5129561 RGD:5129681 RGD:5129686
NCBI chr 5:63,088,778...63,098,750
Ensembl chr 5:63,088,778...63,098,750
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C5
complement C5
severity
ISO
mRNA:decreased expression:lung
RGD
PMID:10973279 PMID:11591795 PMID:15278436 PMID:20143644 PMID:20802484
RGD:1600651 RGD:5129512 RGD:5129681 RGD:5129706 RGD:5130158
NCBI chr 1:260,995,662...261,088,868
Ensembl chr 1:260,995,668...261,133,483
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C5AR1
complement C5a receptor 1
severity
ISO
protein:increased expression:lung, leukocyte protein:increased expression:respiratory tract
RGD
PMID:15940127 PMID:16511606 PMID:17544263 PMID:20802484
RGD:5129560 RGD:5129561 RGD:5129681 RGD:5130166
NCBI chr 6:53,097,162...53,111,563
Ensembl chr 6:53,097,142...53,111,565
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CARD11
caspase recruitment domain family member 11
susceptibility
ISO
ClinVar Annotator: match by term: Asthma
RGD ClinVar
PMID:16751370 PMID:18323416 PMID:23027925 PMID:23129749 PMID:25352053 PMID:25741868 PMID:26861442 PMID:28492532 PMID:28824638 PMID:29472930 More...
RGD:11100037
NCBI chr 3:2,145,178...2,266,377
Ensembl chr 3:2,145,178...2,266,355
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CARM1
coactivator associated arginine methyltransferase 1
ISO
mRNA:decreased expression:lung
RGD
PMID:20423833
RGD:9491823
NCBI chr 2:69,602,121...69,644,862
Ensembl chr 2:69,602,136...69,644,854
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CASP1
caspase 1, apoptosis-related cysteine peptidase
ISO
protein:increased expression:serum
RGD
PMID:12396474
RGD:5130192
NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
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CAT
catalase
severity
ISO
DNA:polymorphism:promoter:-21A>T (human) DNA:polymorphism:promoter:-262C>T (human) protein:decreased activity protein:decreased activity:respiratory system fluid/secretion protein:increased expression:erythrocyte CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16622028 PMID:18048809 PMID:19373626 PMID:19475625
RGD:5130751 RGD:5130753 RGD:5130856 RGD:5130867
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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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 chr12:40,728,014...40,731,411
Ensembl chr12:40,728,014...40,731,411
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CCL11
chemokine (C-C motif) ligand 11
treatment susceptibility severity
ISO
DNA:polymorphism: :p.A23T (human)
RGD OMIM
PMID:17845580 PMID:20704746 PMID:22932891
RGD:4145387 RGD:4145457 RGD:7248416
NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
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CCL17
C-C motif chemokine ligand 17
ISO
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion
RGD
PMID:11160256 PMID:15947487 PMID:15993846 PMID:20074456 PMID:20237293
RGD:2306304 RGD:4145486 RGD:4145487 RGD:4145513 RGD:4145603
NCBI chr 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
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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 chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734
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CCL2
chemokine (C-C motif) ligand 2
severity treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:haplotype::-2518A>G (human) protein:increased expression:serum protein:increased expression:lung mRNA:increased expression:lung (mouse)
RGD CTD
PMID:12055264 PMID:17964702 PMID:19373627 PMID:20205697 PMID:23454776 PMID:25441643 More...
RGD:11528569 RGD:11528570 RGD:2307055 RGD:4145509 RGD:4891466 RGD:8551842
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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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 chr15:129,172,743...129,176,069
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CCL22
C-C motif chemokine ligand 22
ISO
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion
RGD
PMID:10384142 PMID:15993846 PMID:18316417 PMID:18684970
RGD:2306304 RGD:4145489 RGD:4891474 RGD:4891475
NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737
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CCL24
C-C motif chemokine ligand 24
susceptibility
ISO
protein:increased expression:plasma protein:increased expression:respiratory system fluid/secretion DNA:SNPs: :304C>A, 1272A>G (human) DNA:SNPs: :179T>C, 275C>T (human) DNA:SNP: :1265A>G (human)
RGD
PMID:12761043 PMID:12952266 PMID:15207712 PMID:16304252 PMID:17060636 PMID:17548626 PMID:18712274 More...
RGD:4891483 RGD:4891484 RGD:4891485 RGD:4891495 RGD:4891496 RGD:5130930 RGD:5130932
NCBI chr 3:10,347,397...10,361,500
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CCL26
C-C motif chemokine ligand 26
treatment
ISO
DNA:SNPs: :77C>T, 716A>G, 1579G>A (human) protein:increased expression:plasma DNA:SNPs: :77C>T, 2497T>G (human)
RGD
PMID:15207712 PMID:16304252 PMID:18712274 PMID:25399816 PMID:25530546
RGD:11081163 RGD:11087575 RGD:4891483 RGD:4891495 RGD:5130930
NCBI chr 3:10,381,306...10,385,677
Ensembl chr 3:10,381,306...10,385,677
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CCL27
C-C motif chemokine ligand 27
ISO
RGD
PMID:19541356
RGD:5130899
NCBI chr10:32,138,232...32,138,980
Ensembl chr10:32,138,232...32,138,974
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CCL28
C-C motif chemokine ligand 28
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:16290206
RGD:4892195
NCBI chr16:27,990,024...28,010,859
Ensembl chr16:27,985,167...28,010,858
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CCL4
C-C motif chemokine ligand 4
ISO
RGD
PMID:18774390
RGD:5130915
NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
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CCL5
C-C motif chemokine ligand 5
susceptibility
ISO
protein:increased expression:smooth muscle cell CTD Direct Evidence: marker/mechanism protein:increased expression:lung, secretion (mouse) DNA:transition:5' utr:-403G>A (human)
RGD CTD
PMID:8534483 PMID:18208670 PMID:20092989 PMID:20430255
RGD:2307112 RGD:4891381 RGD:4891430
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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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:15593301 PMID:15654816
RGD:5688158 RGD:5688159
NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
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CCR2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:haplotype:cds:p.V64I(human) DNA:SNP:cds:p.V64I (human) protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:17298432 PMID:19917684 PMID:23454776
RGD:4145110 RGD:8549811 RGD:8551842
NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,369,122...29,376,343
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CCR2
C-C motif chemokine receptor 2
ISO
DNA:SNP:exon:51T>C (human) protein:increased expression:respiratory system fluid/secretion, neutrophil
RGD
PMID:16978084 PMID:17145927 PMID:18699933 PMID:19017998 PMID:19657453 PMID:20134116 PMID:20220260 More...
RGD:1601020 RGD:4145618 RGD:4145623 RGD:4145632 RGD:4145633 RGD:4145638 RGD:4145646
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,286,467
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CCR4
C-C motif chemokine receptor 4
ISO
mRNA:increased expression:lung
RGD
PMID:15993846
RGD:2306304
NCBI chr13:18,860,596...18,865,987
Ensembl chr13:18,860,730...18,865,983
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CCR5
C-C motif chemokine receptor 5
no_association
ISO
DNA:polymorphism, frameshift mutation: :-59029G>A, p.S185_T195del (rs333) (human) protein:decreased expression:blood, lymphocyte (human) DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) mRNA:increased expression:lung (mouse)
RGD
PMID:15256090 PMID:16474097 PMID:18094012 PMID:20220260 PMID:23454776
RGD:4145638 RGD:4892088 RGD:4892093 RGD:4892108 RGD:8551842
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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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 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
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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 chr12:21,857,286...21,869,211
Ensembl chr12:21,857,286...21,872,475
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CCR8
C-C motif chemokine receptor 8
ISO
mRNA:increased expression:lung
RGD
PMID:15993846
RGD:2306304
NCBI chr13:23,994,097...24,014,849
Ensembl chr13:24,012,708...24,013,775
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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 chr13:29,033,609...29,051,227
Ensembl chr13:29,033,570...29,054,598
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CD14
CD14 molecule
susceptibility severity no_association
ISO
DNA:polymorphism:promoter:c. -159C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: : protein:increased expression:serum|DNA:polymorphism:promoter:c. -159C>T (human) DNA:polymorphism:promoter:c. -260C>T (human)
RGD CTD
PMID:15741437 PMID:15940135 PMID:16387800 PMID:17607003 PMID:18312481 PMID:19096003 More...
RGD:4144208 RGD:4144228 RGD:4144813 RGD:4144814 RGD:4144815
NCBI chr 2:142,348,036...142,349,686
Ensembl chr 2:142,346,360...142,349,581
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CD209
CD209 molecule
ISO
RGD
PMID:21471959
RGD:5131188
NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
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CD274
CD274 molecule
treatment
ISO
associated with Chlamydia pneumonia
RGD
PMID:26378990
RGD:41412180
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
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CD28
CD28 molecule
ISO
RGD
PMID:21356099
RGD:5131612
NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:19159017 PMID:19220210 PMID:20205594 PMID:20941750
RGD:4144188 RGD:4892277 RGD:5132272 RGD:8547792
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD40LG
CD40 ligand
severity
ISO
RGD
PMID:9502776
RGD:11352238
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CD80
CD80 molecule
ISO
RGD
PMID:21051864 PMID:21352203 PMID:21440530
RGD:5132619 RGD:5132620 RGD:5132621
NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976
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CD86
CD86 molecule
treatment
ISO
DNA:snp:exon:p.I179V rs2681417 (human) protein:increased expression:lung, dendritic cell (rat) protein:increased expression:lung, alveolar macrophage (mouse) protein:increased expression:blood, B cell (human)
RGD
PMID:9449507 PMID:9551945 PMID:17513529 PMID:20668438 PMID:20941750 PMID:25344652 More...
RGD:11354965 RGD:4892199 RGD:4892202 RGD:4892277 RGD:4892280 RGD:4892555
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
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CDH1
cadherin 1
ISO
RGD
PMID:21540309
RGD:5132878
NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
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CDHR3
cadherin related family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241537
NCBI chr 9:105,822,463...105,893,696
Ensembl chr 9:105,822,868...105,893,688
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CFTR
CF transmembrane conductance regulator
susceptibility
ISO
DNA:deletion: :p.F508del(human)
RGD
PMID:20298391
RGD:4140387
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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CHAT
choline O-acetyltransferase
ISO
Protein:decreased expression:lung epithelium
RGD
PMID:17328924
RGD:5686690
NCBI chr14:90,117,464...90,167,611
Ensembl chr14:90,117,464...90,167,611
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CHI3L1
chitinase 3 like 1
susceptibility
ISO
ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 7
OMIM ClinVar
PMID:18403759
NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
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CHIA
chitinase acidic
no_association
ISO
DNA:snps:multiple (human) mRNA:increased expression:lung (mouse) DNA:snps:5' utr, cds:multiple (human) mRNA:increased expression:lung, epithelial cell (human)
RGD
PMID:14734765 PMID:15192232 PMID:16179638 PMID:19548841 PMID:20226308
RGD:4985150 RGD:4990463 RGD:4996473 RGD:5024921 RGD:5024922
NCBI chr 4:109,035,323...109,046,499
Ensembl chr 4:109,035,326...109,046,499
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CHML
CHM like Rab escort protein
ISO
RGD
PMID:18343558
RGD:5133238
NCBI chr10:11,835,472...11,845,833
Ensembl chr10:11,835,582...11,845,804
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CHRM1
cholinergic receptor muscarinic 1
ISO
RGD
PMID:16931638
RGD:5133416
NCBI chr 2:8,858,765...8,872,042
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CHRM2
cholinergic receptor muscarinic 2
ISO
DNA:SNP: :rs6962027 (human)
RGD
PMID:19308904
RGD:5509586
NCBI chr18:12,455,139...12,600,314
Ensembl chr18:12,455,145...12,600,186
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CHRM3
cholinergic receptor muscarinic 3
severity
ISO
RGD
PMID:18348887 PMID:20394512
RGD:5133437 RGD:5133438
NCBI chr14:51,818,625...52,363,662
Ensembl chr14:51,828,231...51,830,003
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CHUK
component of inhibitor of nuclear factor kappa B kinase complex
ISO
RGD
PMID:21496385
RGD:5133703
NCBI chr14:111,316,178...111,351,669
Ensembl chr14:111,315,141...111,351,868
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CLCA1
chloride channel accessory 1
susceptibility
ISO
DNA:SNPs (human)
RGD
PMID:11296262 PMID:15318163 PMID:17898169
RGD:4145653 RGD:4145656 RGD:4145661
NCBI chr 4:129,621,259...129,655,385
Ensembl chr 4:129,620,874...129,655,385
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CLDN18
claudin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27215490
NCBI chr13:78,794,573...78,823,761
Ensembl chr13:78,794,580...78,822,796
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CRHR1
corticotropin releasing hormone receptor 1
ISO
DNA:SNPs: :rs1876828, rs242939, rs242941 (human) DNA:SNP: :RS242941 (human)
RGD
PMID:16113459 PMID:19663668
RGD:5147485 RGD:5147488
NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
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CRHR2
corticotropin releasing hormone receptor 2
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:18408560
RGD:5130938
NCBI chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,467
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CRP
C-reactive protein, pentraxin-related
ISO
protein:increased expression:serum
RGD
PMID:21140796
RGD:5131288
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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CSF2
colony stimulating factor 2
severity
ISO
protein:increased expression:lung protein:increased expression:sputum
RGD
PMID:9717963 PMID:19213775 PMID:20405019
RGD:10449521 RGD:5131473 RGD:5131476
NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
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CSF2RB
colony stimulating factor 2 receptor subunit beta
ISO
RGD
PMID:17145927
RGD:1601020
NCBI chr 5:10,816,366...10,840,613
Ensembl chr 5:10,816,376...10,840,618
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CSF3
colony stimulating factor 3
ISO
protein:increased expression:lung
RGD
PMID:20405019 PMID:21396376
RGD:5131473 RGD:5133731
NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
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CTLA4
cytotoxic T-lymphocyte associated protein 4
treatment severity no_association
ISO
DNA:polymorphisms:promoter, exon:-318C>T 49A>G (human) CTD Direct Evidence: marker/mechanism protein:increased expression:serum DNA:SNP: :rs3087243 (human) DNA:SNPs: :multiple (human) DNA:SNPs:promoter, exon:-1147C>T, -318C>T, 49A>G (human) DNA:polymorphism:promoter:-318C>T (human)
RGD CTD
PMID:11726402 PMID:12114354 PMID:12956753 PMID:15316504 PMID:15871446 PMID:16677453 PMID:16708626 PMID:16926542 PMID:17237396 PMID:17469155 PMID:18699801 PMID:19895365 PMID:28807506 More...
RGD:11344922 RGD:4891510 RGD:4891514 RGD:4891516 RGD:4891517 RGD:4891519 RGD:4891521 RGD:4891522 RGD:4891526 RGD:4891527 RGD:4891528 RGD:4891529
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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CTNNA3
catenin alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19187332
NCBI chr14:69,195,231...70,974,543
Ensembl chr14:69,195,961...70,938,204
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:plasma
RGD
PMID:14657873
RGD:4891906
NCBI chr 6:19,312,351...19,324,439
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CX3CR1
C-X3-C motif chemokine receptor 1
no_association
ISO
DNA:polymorphisms: :p.V249I, p.T280M (human) DNA:SNPs: :p.V249I, rs2669849 (human)
RGD
PMID:17082760 PMID:17505143 PMID:21037587
RGD:4891882 RGD:4891895 RGD:4891904
NCBI chr13:23,944,386...23,957,567
Ensembl chr13:23,944,369...23,957,486
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CXCL10
C-X-C motif chemokine ligand 10
ISO
protein:decreased expression:plasma
RGD
PMID:11994485 PMID:16602032 PMID:17302903
RGD:5135439 RGD:5135452 RGD:5135457
NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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CXCL14
C-X-C motif chemokine ligand 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21150878
NCBI chr 2:137,803,988...137,813,118
Ensembl chr 2:137,803,992...137,813,118
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CXCL2
chemokine (C-X-C motif) ligand 2
ISO
mRNA:increased expression:lung
RGD
PMID:20045013
RGD:5129686
NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138
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CXCL9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:15210824
RGD:5135447
NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
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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:16043121 PMID:16548899 PMID:17641057 PMID:18094012
RGD:4892088 RGD:5135484 RGD:5143932 RGD:5143934
NCBI chr X:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692
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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:18716406 PMID:19459419
RGD:4311041 RGD:4772770
NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
ISO
mRNA, protein:increased expression, decreased activity:lung
RGD
PMID:12415424
RGD:4892074
NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
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CYP2D6
cytochrome P450 family 2 subfamily D member 6
ISO
DNA:polymorphism: :1934G>A (human)
RGD
PMID:19575027
RGD:5143944
NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,642
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
mRNA:decreased expression:leukocyte CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17081494 PMID:20514434 PMID:28807506
RGD:4892076 RGD:4892220
NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
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CYSLTR1
cysteinyl leukotriene receptor 1
severity no_association
ISO
mRNA, protein:increased expression:respiratory system mucosa DNA:SNP: :927T>C (human) DNA:SNPs:promoter:-634C>T, -475A>C, -336A>G (human) DNA:SNPs:promoter, exon:multiple (human)
RGD
PMID:8087328 PMID:11591188 PMID:16123393 PMID:16387808 PMID:16630147 PMID:16771777 PMID:16776674 PMID:17153879 PMID:17689528 More...
RGD:4781449 RGD:4781742 RGD:4782072 RGD:4784257 RGD:4843543 RGD:4847129 RGD:4848936 RGD:4888514 RGD:4889116
NCBI chr X:62,380,778...62,407,736
Ensembl chr X:62,380,780...62,456,689
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CYSLTR2
cysteinyl leukotriene receptor 2
ISO
DNA:polymorphism: :601A>G (human) DNA:polymorphism: :-1220A>C (human)
RGD
PMID:15454733 PMID:15475736
RGD:5144002 RGD:5144003
NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015
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DCN
decorin
ISO
RGD
PMID:16387756
RGD:2311423
NCBI chr 5:91,678,601...91,713,925
Ensembl chr 5:91,682,658...91,714,235
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DEFB1
defensin beta 1
susceptibility
ISO
DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) DNA:SNP: :-1816 T>C (human)
RGD
PMID:15696078 PMID:16435024
RGD:4892254 RGD:4892263
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DNAH5
dynein axonemal heavy chain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr16:3,114,267...3,366,189
Ensembl chr16:3,114,273...3,430,341
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DNMT1
DNA methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract:
CTD RGD
PMID:23196709 PMID:23423710
RGD:9588646
NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
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DPP10
dipeptidyl peptidase like 10
ISO
DNA:SNP:exon (human) DNA:SNP: :rs10208402 (human) DNA:SNPs (human) protein:increased expression:bronchus
RGD
PMID:14566338 PMID:17967935 PMID:19672052 PMID:21103062
RGD:4889866 RGD:4892275 RGD:4892276 RGD:4892278
NCBI chr15:21,365,700...22,011,989
Ensembl chr15:20,619,441...22,011,994
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EBI3
Epstein-Barr virus induced 3
ISO
RGD
PMID:21255010
RGD:5128488
NCBI chr 2:74,530,728...74,540,433
Ensembl chr 2:74,530,730...74,539,583
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EDN1
endothelin 1
ISO
DNA:transition:intron:g.4124T>C (human) Severe Persistent Allergic Asthma; protein:increased secretion:lung (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11668616 PMID:16981460 PMID:20588001
RGD:4144869 RGD:4144895
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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EDNRA
endothelin receptor type A
ISO
RGD
PMID:17448648 PMID:18632188
RGD:4892288 RGD:4892322
NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853
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EDNRB
endothelin receptor type B
ISO
mRNA:increased expression:bronchus, smooth muscle cell DNA:polymorphism (human)
RGD
PMID:15245576 PMID:17470272 PMID:18632188
RGD:4892288 RGD:4892321 RGD:4892324
NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
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EGFR
epidermal growth factor receptor
severity
ISO
protein:increased expression:bronchial epithelium (human) protein:increased expression:lung epithelium (rat) protein:increased expression:lung epithelium (mouse)
RGD
PMID:12580917 PMID:19954006 PMID:21072743 PMID:21224214
RGD:5131468 RGD:5131633 RGD:5131642 RGD:5131870
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
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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:18507785 PMID:18774390
RGD:5130915 RGD:5131985 RGD:5131993
NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
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ELP1
elongator acetyltransferase complex subunit 1
no_association
ISO
RGD
PMID:11281413 PMID:12774215
RGD:5129157 RGD:5129158
NCBI chr 1:249,905,550...249,980,570
Ensembl chr 1:249,905,351...249,981,641
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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 chr10:13,757,489...13,773,071
Ensembl chr10:13,751,881...13,773,072
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EPX
eosinophil peroxidase
severity disease_progression
ISO
protein:increased activity:sputum,nasal,pharyngeal mucosa
RGD
PMID:12199967 PMID:20813885 PMID:26645423
RGD:11574908 RGD:13506891 RGD:13506892
NCBI chr12:34,486,139...34,498,879
Ensembl chr12:34,486,144...34,498,875
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ESR2
estrogen receptor 2
ISO
mRNA:decreased expression:lung (rat)
RGD
PMID:18375789
RGD:8694127
NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
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F2
coagulation factor II, thrombin
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 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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F2RL1
F2R like trypsin receptor 1
ISO
RGD
PMID:19864598
RGD:4892589
NCBI chr 2:85,732,082...85,747,552
Ensembl chr 2:85,732,189...85,750,858
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F7
coagulation factor VII
treatment
ISO
RGD
PMID:24523826
RGD:11040539
NCBI chr11:78,512,389...78,518,668
Ensembl chr11:78,512,137...78,518,668
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FAS
Fas cell surface death receptor
ISO
mRNA:increased expression:eosinophil
RGD
PMID:16337971
RGD:1600350
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FCER1A
Fc epsilon receptor Ia
severity
ISO
Asthma symptoms persistent despite steroids Fatal asthma subjects
RGD
PMID:20937062 PMID:21388666
RGD:5128711 RGD:5128717
NCBI chr 4:91,118,867...91,125,448
Ensembl chr 4:91,118,879...91,125,437
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FCGR2B
Fc fragment of IgG, low affinity IIb, receptor (CD32)
ISO
RGD
PMID:20179765
RGD:11344929
NCBI chr 4:88,873,762...88,892,964
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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 chr 4:88,948,357...88,956,513
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FGA
fibrinogen alpha chain
treatment
ISO
RGD
PMID:24523826
RGD:11040539
NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202
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FKBP5
FKBP prolyl isomerase 5
ISO
ClinVar Annotator: match by term: Asthma
ClinVar
NCBI chr 7:31,441,764...31,550,704
Ensembl chr 7:31,440,842...31,567,487
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FOXP3
forkhead box P3
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27633092 PMID:27965764 PMID:28944907 PMID:29317916
RGD:38548920 RGD:38549365
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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GATA3
GATA binding protein 3
ISO
RGD
PMID:9949310 PMID:18186587
RGD:5128802 RGD:5128803
NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859
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GC
GC vitamin D binding protein
ISO
protein, mRNA:increased expression:bronchoalveolar lavage fluid:
RGD
PMID:21169467
RGD:5509920
NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
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GSDMB
gasdermin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241537
NCBI chr12:22,418,672...22,434,428
Ensembl chr12:22,418,747...22,436,086
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GSTM3
glutathione S-transferase mu 3
ISO
DNA:polymorphism
RGD
PMID:11470996 PMID:17550934
RGD:5135038 RGD:5135039
NCBI chr 4:110,330,027...110,332,957
Ensembl chr 4:110,330,028...110,332,962
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GSTO2
glutathione S-transferase omega 2
susceptibility
ISO
DNA:polymorphism:exon:p. N142D (human)
RGD
PMID:20374258
RGD:5490988
NCBI chr14:115,218,179...115,242,377
Ensembl chr14:115,217,879...115,251,435
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HAVCR1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:20628202
RGD:5128851
NCBI chr16:66,162,318...66,208,868
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HAVCR2
hepatitis A virus cellular receptor 2
ISO
RGD
PMID:17517968
RGD:5135525
NCBI chr16:66,138,157...66,160,568
Ensembl chr16:66,139,535...66,160,538
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HDAC2
histone deacetylase 2
ISO
mRNA:decreased expression:macrophage:
RGD
PMID:20538962
RGD:9590321
NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
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HDC
histidine decarboxylase
ISO
associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human)
RGD
PMID:20608921
RGD:5128884
NCBI chr 1:121,505,677...121,525,416
Ensembl chr 1:121,505,751...121,525,252
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HIF1A
hypoxia inducible factor 1 subunit alpha
treatment
ISO
RGD
PMID:18160846
RGD:10402541
NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
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HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:20084838
RGD:5508450
NCBI chr 2:84,380,245...84,401,117
Ensembl chr 2:84,380,224...84,402,957
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HMOX1
heme oxygenase 1
severity
ISO
mRNA;protein:increased expression:Leukocytes, Mononuclear CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16196283 PMID:18048809 PMID:20596599
RGD:4145403 RGD:4145408
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HNMT
histamine N-methyltransferase
no_association susceptibility
ISO
ClinVar Annotator: match by term: Asthma, susceptibility to
RGD OMIM ClinVar
PMID:10752634 PMID:10803682 PMID:15693910 PMID:16205835 PMID:17651147 PMID:25741868 More...
RGD:5128885 RGD:5128887 RGD:5128888
NCBI chr15:13,733,412...13,768,106
Ensembl chr15:13,732,680...13,768,199
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HP
haptoglobin
ISO
RGD
PMID:21169467 PMID:21471098
RGD:5144151 RGD:5509920
NCBI chr 6:14,980,382...14,985,245
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HSD11B2
hydroxysteroid 11-beta dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11932298
NCBI chr 6:28,084,087...28,089,256
Ensembl chr 6:28,083,955...28,089,671
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HTR2A
5-hydroxytryptamine receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25322896
NCBI chr11:20,555,939...20,620,225
Ensembl chr11:20,555,963...20,619,625
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ICAM1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:aorta (mouse) protein:increased secretion:lung (human) protein:increased expression:lung, serum (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17014439 PMID:20205697 PMID:20400685 PMID:20953388 PMID:25003170
RGD:4145331 RGD:4145444 RGD:4145509
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IFNG
interferon gamma
resistance treatment
ISO
protein:increased expression:sputum
RGD
PMID:12396623 PMID:19542437 PMID:20817868 PMID:20953328
RGD:10755706 RGD:4145525 RGD:4145651 RGD:5128479
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IFNGR1
interferon gamma receptor 1
ISO
DNA: SNP: Leu467Pro
RGD
PMID:12851715 PMID:21737883
RGD:6480255 RGD:6480431
NCBI chr 1:27,037,151...27,061,095
Ensembl chr 1:27,037,165...27,061,093
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IKZF3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25256354
NCBI chr12:22,466,386...22,562,320
Ensembl chr12:22,466,414...22,562,312
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IL10
interleukin 10
susceptibility treatment
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:plasma DNA:polymorphism: :-627C>A (human)
RGD CTD
PMID:12938145 PMID:20121766 PMID:20230687 PMID:20237464 PMID:20560982 PMID:20644177 PMID:21998459 PMID:29317916 More...
RGD:11046261 RGD:4140421 RGD:4140451 RGD:4140459 RGD:4140471 RGD:4143221 RGD:5131623
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL12A
interleukin 12A
ISO
RGD
PMID:17056578 PMID:17548618
RGD:4373570 RGD:4438438
NCBI chr13:99,733,394...99,741,078
Ensembl chr13:99,733,394...99,741,078
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IL12B
interleukin 12B
susceptibility severity
ISO
DNA:polymorphisms:promoter, 3'utr: ClinVar Annotator: match by term: Asthma, susceptibility to DNA:polymorphisms:introns: DNA:polymorphism:promoter
RGD ClinVar
PMID:12241719 PMID:15322986 PMID:16210052
RGD:1600043 RGD:4145428 RGD:4145438
NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
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IL13
interleukin 13
susceptibility severity no_association
ISO
ClinVar Annotator: match by term: Asthma, susceptibility to protein:increased expression:serum protein:increased expression:sputum DNA:polymorphism:cds:p.R130Q (human) DNA:polymorphism: :c.-1055C>T (human)
OMIM ClinVar RGD
PMID:10699178 PMID:11588017 PMID:11678850 PMID:11709756 PMID:11758895 PMID:12847555 PMID:12928861 PMID:15356556 PMID:15483090 PMID:15711639 PMID:15879126 PMID:18258919 PMID:18328894 PMID:20198887 More...
RGD:4145593 RGD:4145639 RGD:4145777 RGD:4763153 RGD:4763761
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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IL13RA1
interleukin 13 receptor subunit alpha 1
no_association
ISO
DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human) mRNA:increased expression:bronchus DNA:polymorphism: :1398A>G (human) DNA:polymorphism: :1050C>T (human)
RGD
PMID:10686479 PMID:11714828 PMID:17006604 PMID:17392323 PMID:18480254 PMID:20383033 More...
RGD:4892639 RGD:4892646 RGD:4892647 RGD:4892650 RGD:4892654 RGD:4892655
NCBI chr X:97,300,960...97,353,754
Ensembl chr X:97,300,466...97,356,133
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IL13RA2
interleukin 13 receptor subunit alpha 2
ISO
protein:increased expression:serum mRNA:increased expression:bronchus
RGD
PMID:17885690 PMID:20383033 PMID:21462799
RGD:4892646 RGD:4892649 RGD:8549521
NCBI chr X:94,402,665...94,455,609
Ensembl chr X:94,402,676...94,439,060
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IL15
interleukin 15
no_association
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:11160248 PMID:15131572 PMID:15843549 PMID:16629787 PMID:19133918
RGD:4984421 RGD:4990462 RGD:5000757 RGD:5000758 RGD:5000760
NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
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IL16
interleukin 16
severity no_association
ISO
DNA:SNP:promoter:-295T>C (human) protein:increased expression:serum associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion
RGD
PMID:10585533 PMID:12872394 PMID:15784111 PMID:16387589 PMID:16734115
RGD:5024928 RGD:5024930 RGD:5024934 RGD:5024935 RGD:5024937
NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,973,938...50,102,346
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IL17A
interleukin 17A
susceptibility
ISO
mRNA,protein:increased expression:Leukocytes, Mononuclear, lung, serum DNA:SNP:promoter:rs2275913 (human) protein:increased expression:alveolar macrophage protein:increased expression:sputum
RGD
PMID:15730730 PMID:18060619 PMID:18941201 PMID:20351038 PMID:20437253
RGD:4839043 RGD:4888527 RGD:4889114 RGD:4889139 RGD:4889152
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL17RB
interleukin 17 receptor B
ISO
associated with Picornaviridae Infections
RGD
PMID:25273095
RGD:39128256
NCBI chr13:35,948,248...35,963,191
Ensembl chr13:35,948,340...35,963,944
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IL18
interleukin 18
susceptibility disease_progression severity
ISO
DNA:polymorphism: :c. -105A>C (human) DNA:SNP:promoter:c.and -137G>C (rs187238)(human) protein:increased expression:serum DNA:SNP:promoter: c.-380C>G (rs5744247)(human) DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human)
RGD
PMID:11174201 PMID:16433859 PMID:17767553 PMID:18200581 PMID:18826499 PMID:19745201 PMID:20497957 More...
RGD:4889585 RGD:4889863 RGD:4889898 RGD:4889900 RGD:4889908 RGD:4889910 RGD:4889923
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL18R1
interleukin 18 receptor 1
ISO
DNA:SNP: :rs3771166 (human) DNA:SNPs: :multiple (human)
RGD
PMID:11972614 PMID:18382474 PMID:18774397 PMID:19910030 PMID:20860503
RGD:5024942 RGD:5024945 RGD:5024946 RGD:5024947 RGD:5024948
NCBI chr 3:51,803,383...51,844,758
Ensembl chr 3:51,803,175...51,844,684
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IL19
interleukin 19
ISO
mRNA, protein:increased expression:lung, serum protein:increased expression:serum
RGD
PMID:15557163
RGD:5037236
NCBI chr 9:67,469,519...67,479,597
Ensembl chr 9:67,469,524...67,479,813
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IL1A
interleukin 1 alpha
ISO
DNA:polymorphisms: :
RGD
PMID:18763028
RGD:4142802
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,121
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IL1RL1
interleukin 1 receptor like 1
susceptibility severity
ISO
DNA:SNP: :rs1041973 (human) DNA:SNPs:intron:rs1420089, rs1861245,rs1946131 (human) DNA:SNP: :rs1420101 (human) CTD Direct Evidence: marker/mechanism DNA:SNP: :rs10197862 (human) protein:increased expression:serum
RGD CTD
PMID:11463601 PMID:17407196 PMID:17623648 PMID:19179489 PMID:19198610 PMID:19852851 PMID:21150878 PMID:21281963 PMID:21804549 PMID:24241537 PMID:27472835 More...
RGD:5144235 RGD:5144237 RGD:5144239 RGD:5144240 RGD:5144242 RGD:5144243 RGD:5144244 RGD:5144245
NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
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IL1RN
interleukin 1 receptor antagonist
susceptibility severity
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs2234678 (human) protein:increased expression:plasma DNA:SNPs: :rs447713, rs3087271 (human) DNA:SNPs: :multiple (human) DNA:polymorphism:intron (human) DNA, protein:repeat, decreased expression (human)
CTD RGD
PMID:9176529 PMID:10843772 PMID:11027520 PMID:15020290 PMID:16409203 PMID:16724092 PMID:17107994 PMID:18763028 PMID:18926055 More...
RGD:4142802 RGD:4142864 RGD:4143163 RGD:4143208 RGD:4143209 RGD:4143216 RGD:4143224 RGD:4143225
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IL2
interleukin 2
susceptibility
ISO
DNA:SNP:promoter:rs2069762(human)
RGD
PMID:16333313 PMID:20926789
RGD:4889118 RGD:8663473
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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IL21
interleukin 21
ISO
DNA:SNP:exon:5250C>T (human)
RGD
PMID:18802358
RGD:5147396
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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IL22
interleukin 22
treatment severity
ISO
protein:increased expression:serum mRNA:increased expression:blood, mononuclear cell
RGD
PMID:21297073 PMID:21535180 PMID:21998459
RGD:11046261 RGD:5147403 RGD:5147409
NCBI chr 5:32,599,522...32,604,507
Ensembl chr 5:32,599,471...32,604,513
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IL23R
interleukin 23 receptor
ISO
RGD
PMID:19935773
RGD:5037240
NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,510
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IL25
interleukin 25
ISO
mRNA, protein:increased expression:lung
RGD
PMID:25273095
RGD:39128256
NCBI chr 7:75,710,453...75,717,688
Ensembl chr 7:75,709,995...75,714,355
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IL27
interleukin 27
treatment susceptibility
ISO
protein:increased expression:sputum DNA:SNP: :g.-964A>G (human)
RGD
PMID:17318299 PMID:17878337 PMID:19542437 PMID:20817868 PMID:26595888
RGD:11076728 RGD:4145651 RGD:5128479 RGD:5128485 RGD:5128491
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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IL27RA
interleukin 27 receptor subunit alpha
ISO
RGD
PMID:16081811
RGD:5128496
NCBI chr 2:65,127,278...65,149,665
Ensembl chr 2:65,127,287...65,149,740
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IL28B
interleukin 28B (interferon, lambda 3)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22295096
NCBI chr 6:47,951,925...47,953,282
Ensembl chr 6:47,951,595...47,953,467
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IL29
interleukin 29 (interferon, lambda 1)
exacerbates
ISO
associated with common cold;mRNA:decreased expression:sputum (human) associated with common cold;protein:increased expression: nasal cavity (human)
RGD
PMID:22135341 PMID:25784275
RGD:126848770 RGD:126848775
NCBI chr17:51,484,658...51,485,233
Ensembl chr17:51,484,658...51,485,233
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IL2RA
interleukin 2 receptor subunit alpha
ISO
RGD
PMID:17351063 PMID:20525707 PMID:21377197
RGD:2325990 RGD:5147437 RGD:5147445
NCBI chr10:64,948,149...65,001,320
Ensembl chr10:64,948,563...65,001,142
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IL2RB
interleukin 2 receptor subunit beta
ISO
DNA:SNP: :rs2284033 (human)
RGD
PMID:18641329 PMID:20860503
RGD:5024942 RGD:5147447
NCBI chr 5:10,610,094...10,650,315
Ensembl chr 5:10,628,962...10,650,314
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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 RGD
PMID:19198610 PMID:21804549 PMID:24241537 PMID:25746970 PMID:27472835 PMID:28947081 PMID:29067999 More...
RGD:39938968 RGD:39939002
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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IL4
interleukin 4
treatment no_association
ISO
protein:increased expression:respiratory system fluid/secretion protein:increased expression:lung mRNA:increased expression:lung, spleen mRNA, protein:increase expression:leukocyte, serum DNA:polymorphism (human) DNA:SNP: :589C>T (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18211752 PMID:18357729 PMID:20524005 PMID:21103062 PMID:21354484 PMID:21364926 PMID:21375458 PMID:24450480 PMID:24946644 More...
RGD:10402791 RGD:10402799 RGD:2317290 RGD:4889866 RGD:5128500 RGD:5128502 RGD:5128557 RGD:5128560
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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IL4R
interleukin 4 receptor
disease_progression susceptibility severity
ISO
DNA:mutation:cds:p.Q576R (mouse) DNA:SNPs:cds:p.E375A, Q551R (human) DNA:polymorphism:promoter:c.-3223C>T (human) DNA:SNPs:cds:p. I75V, Q576R (human) DNA:polymorphism:cds:p.Q551R (human) DNA:polymorphism:cds:p.I50V (human) DNA:polymorphism:cds:p. S478P (human) DNA:polymorphism:cds:p.Q576R (human) DNA:SNPs: :multiple DNA:polymorphism::-1902G/A (human) OMIM:600807
RGD MouseDO
PMID:11398072 PMID:11709756 PMID:12133990 PMID:12940513 PMID:15479272 PMID:16917945 PMID:17170387 PMID:17586032 PMID:17823973 PMID:18425216 PMID:19770271 PMID:20605987 PMID:20868478 PMID:20953944 More...
RGD:4890003 RGD:4890024 RGD:4890346 RGD:4890347 RGD:4890348 RGD:4890349 RGD:4890351 RGD:4890352 RGD:4890387 RGD:4890402 RGD:4890404 RGD:4890406 RGD:5128514 RGD:5128553
NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
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IL5
interleukin 5
disease_progression treatment
ISO
DNA:polymorphism:promoter:-703C>T (human) protein:increased expression:respiratory system fluid/secretion protein:increased expression:lungs, respiratory system fluid/secretion CTD Direct Evidence: marker/mechanism protein: increased levels: sputum
RGD CTD
PMID:7540862 PMID:9182686 PMID:9493449 PMID:11159041 PMID:15502111 PMID:15626484 PMID:17074272 PMID:18629290 PMID:19947994 PMID:22085848 PMID:22186238 PMID:23266719 PMID:25008888 More...
RGD:11354973 RGD:4145461 RGD:4890938 RGD:4890940 RGD:4890947 RGD:4890948 RGD:4890962 RGD:4890963 RGD:5687140 RGD:5687144 RGD:5687189
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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IL5RA
interleukin 5 receptor subunit alpha
ISO
DNA:SNP: :c.25091G>A (human) DNA:SNPs (human)
RGD
PMID:10224351 PMID:10848907 PMID:16217591 PMID:17276963 PMID:20513521 PMID:20592918 More...
RGD:5128614 RGD:5128617 RGD:5128623 RGD:5128625 RGD:5128626 RGD:5128627
NCBI chr13:59,651,184...59,692,211
Ensembl chr13:59,652,271...59,690,176
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IL6
interleukin 6
ISO
protein:increased expression:lung CTD Direct Evidence: marker/mechanism associated with Hypersensitivity;protein:increased expression:sputum
RGD CTD
PMID:20658762 PMID:20816188 PMID:20840469 PMID:21115736 PMID:29902480
RGD:4143265 RGD:4143266 RGD:4143271 RGD:5128630
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IL6R
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17496315 PMID:21115736 PMID:29902480
RGD:5128630 RGD:5128662
NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282
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IL9
interleukin 9
ISO
protein:increased expression:sputum, macrophage, cytoplasm protein:increased expression:respiratory system fluid/secretion
RGD
PMID:12153980 PMID:15303135 PMID:15531759 PMID:17446528 PMID:21356110
RGD:5128686 RGD:5128690 RGD:5128691 RGD:5128700 RGD:5128707
NCBI chr 2:138,048,943...138,052,588
Ensembl chr 2:138,048,943...138,052,588
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IL9R
interleukin 9 receptor
ISO
RGD
PMID:10629460
RGD:5128704
NCBI chr 3:41,581,253...41,590,485
Ensembl chr 3:41,583,693...41,594,867
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IRAK3
interleukin 1 receptor associated kinase 3
susceptibility
ISO
ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5
OMIM ClinVar
PMID:17503328
NCBI chr 5:30,524,704...30,601,067
Ensembl chr 5:30,526,793...30,609,921
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IRF1
interferon regulatory factor 1
susceptibility no_association
ISO
DNA:repeat:intron (human) DNA:polymorphisms:promoter, cds:-300G>T, 4396A>G, 6355G>A (human) protein:increased expression:respiratory tract epithelium
RGD
PMID:10225979 PMID:11069564 PMID:16961714
RGD:5128723 RGD:5128724 RGD:5128726
NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801
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IRF3
interferon regulatory factor 3
ISO
RGD
PMID:20673978
RGD:5128793
NCBI chr 6:54,701,733...54,706,079
Ensembl chr 6:54,701,668...54,707,151
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ITGB3
integrin subunit beta 3
ISO
DNA:SNPs: :
RGD
PMID:17556058
RGD:5037230
NCBI chr12:16,694,466...16,752,228
Ensembl chr12:16,693,514...16,752,292
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ITGB6
integrin subunit beta 6
ISO
OMIM:600807
MouseDO
NCBI chr15:67,041,516...67,175,409
Ensembl chr15:67,041,522...67,175,234
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ITPR1
inositol 1,4,5-trisphosphate receptor type 1
ISO
RGD
PMID:21777465
RGD:5147661
NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912
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KDR
kinase insert domain receptor
ISO
associated with Rhinitis,Allergic,Seasonal;protein:increased expression:nasal cavity of mucosa:
RGD
PMID:17651148 PMID:20921519
RGD:5684385 RGD:8551771
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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KIF3A
kinesin family member 3A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr 2:134,932,339...135,069,408
Ensembl chr 2:134,932,615...135,069,377
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KRT19
keratin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15478392
NCBI chr12:21,115,453...21,119,115
Ensembl chr12:21,115,448...21,119,107
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LEP
leptin
ISO
protein:increased expression:plasma
RGD
PMID:19705789
RGD:5128781
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
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LGALS3
galectin 3
treatment
ISO
RGD
PMID:16424226
RGD:9685213
NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951
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LOC100739163
glutathione S-transferase P-like
severity
ISO
RGD
PMID:18787219
RGD:4140946
NCBI chr 2:4,978,761...4,982,233
G
LOC100739508
glutathione S-transferase P-like
severity no_association susceptibility disease_progression
ISO
DNA:SNP: :p.A114V (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:exon:p.I105V (rs1695) (human) DNA:SNPs: :p.I105V, p.A114V (human) DNA:SNPs:intron,exon:(rs749174), (rs1138272)(human) DNA:SNPs:exons:p.I105V (rs1695), A114V (rs1138272) (human) DNA:polymorphism:exon:p.I105V (human)
RGD CTD
PMID:10806136 PMID:11994713 PMID:15693909 PMID:16176403 PMID:16870661 PMID:18057098 PMID:18709160 PMID:18988661 PMID:20210814 PMID:20858151 PMID:24117884 PMID:29411558 More...
RGD:4140947 RGD:4140951 RGD:4142519 RGD:4142526 RGD:5490985 RGD:5490991 RGD:5490999
NCBI chr 2:5,005,498...5,009,247
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LOC102163838
non-secretory ribonuclease-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8874658 PMID:12153692 PMID:12587966
NCBI chr 7:78,179,285...78,180,221
G
LOC110258578
interleukin-1 beta-like
susceptibility
ISO
protein:decreased expression:neutrophil DNA:polymorphism: :-511C>T (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9176529 PMID:18926055 PMID:19684087 PMID:19842845
RGD:4142830 RGD:4142836 RGD:4142864
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LTA
lymphotoxin alpha
susceptibility no_association
ISO
DNA:polymorphisms:promoter DNA:polymorphism:intron
RGD
PMID:12530118 PMID:15969671 PMID:17536219 PMID:18947013
RGD:4143254 RGD:4143370 RGD:4143371 RGD:4143373
NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,040...23,698,299
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LTA4H
leukotriene A4 hydrolase
ISO
mRNA:increased expression:lung, cerebral cortex (rat)
RGD
PMID:15715933
RGD:2316607
NCBI chr 5:87,486,552...87,518,520
Ensembl chr 5:87,486,512...87,518,515
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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:12910828 RGD:8693709
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MEFV
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:mutations:exons
RGD
PMID:18219832
RGD:5129186
NCBI chr 3:38,934,573...38,948,609
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MIF
macrophage migration inhibitory factor
severity
ISO
DNA:repeats:promoter DNA:SNP:promoter:rs755622(human) protein:increased expression:bronchoalveolar lavage fluid
RGD
PMID:9637721 PMID:16186482 PMID:16455830 PMID:17373669 PMID:19317738
RGD:1641985 RGD:4891035 RGD:4891043 RGD:4891052 RGD:4891059
NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
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MMP1
matrix metallopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24469321
NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:serum mRNA, protein:increased expression:lung CTD Direct Evidence: marker/mechanism DNA:SNP: : rs2664538(human)
RGD CTD
PMID:11742282 PMID:15131573 PMID:16191269 PMID:19361849 PMID:19940022 PMID:20181264 PMID:21439806 More...
RGD:2325953 RGD:5129204 RGD:5129522 RGD:5129687 RGD:5130859
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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MPO
myeloperoxidase
susceptibility
ISO
protein:increased expression:serum DNA:polymorphism: :−463G > A (human)
RGD
PMID:10731862 PMID:19544176
RGD:5130989 RGD:5130994
NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
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MS4A2
membrane spanning 4-domains A2
susceptibility
ISO
Atopy and bronchial hyperresponsiveness, OMIM:147050 DNA:polymorphism:CDS:amino acid E237G DNA:SNPs:multiple:, rs573790, rs2583476, rs569108 DNA:SNP: : -109C>T (human) DNA:SNPs: : rs556917, rs502581, rs502419 (human)
RGD
PMID:8817330 PMID:19218813 PMID:19862939 PMID:21320344
RGD:1599903 RGD:5131092 RGD:5131149 RGD:5131151
NCBI chr 2:11,400,415...11,420,314
Ensembl chr 2:11,400,420...11,420,298
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MTHFR
methylenetetrahydrofolate reductase
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:20456312
RGD:4891145
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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MUC1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:11802251
RGD:5131281
NCBI chr 4:94,626,317...94,631,194
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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 2:689,363...719,542
Ensembl chr 2:689,364...710,330
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
treatment
ISO
mRNA,protein:increased expression:lung mRNA, protein:increased expression:lung
RGD
PMID:14594655 PMID:17590487 PMID:17698377 PMID:21549818 PMID:21780541
RGD:2324962 RGD:5131204 RGD:7349354 RGD:7349407 RGD:7364729
NCBI chr 2:757,897...790,321
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MUC5B
mucin 5B, oligomeric mucus/gel-forming
ISO
protein:altered expression:sputum
RGD
PMID:11587997 PMID:11802783
RGD:5131252 RGD:7364763
NCBI chr 2:807,685...842,096
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MYB
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19198610
NCBI chr 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,856,999
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MYD88
MYD88 innate immune signal transduction adaptor
ameliorates
ISO
RGD
PMID:26882889
RGD:11531666
NCBI chr13:22,976,951...22,979,568
Ensembl chr13:22,966,137...22,983,109
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MYLK
myosin light chain kinase
ISO
RGD
PMID:17472811
RGD:4891492
NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,509,755...136,809,668
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NFE2L2
NFE2 like bZIP transcription factor 2
severity
ISO
mRNA:increased expression:bronchoalveolar lavage cell, peripheral blood mononuclear cell (human)
RGD
PMID:21514635
RGD:6893376
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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NGF
nerve growth factor
severity
ISO
protein:increased expression:blood, eosinophil protein:increased expression:lung, serum
RGD
PMID:11737043 PMID:12752594 PMID:17164945 PMID:17497413
RGD:4891068 RGD:4891108 RGD:4891122 RGD:4891123
NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837
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NGFR
nerve growth factor receptor
ISO
RGD
PMID:12540484 PMID:16603479
RGD:5144070 RGD:5144072
NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356
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NOD1
nucleotide binding oligomerization domain containing 1
susceptibility
ISO
DNA:SNP: :rs2075817 (human) DNA:insertion:cds:
RGD
PMID:15718249 PMID:16918516
RGD:5131518 RGD:5131519
NCBI chr18:42,464,667...42,509,135
Ensembl chr18:42,432,050...42,512,264
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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 chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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NOS1
nitric oxide synthase 1
susceptibility
ISO
DNA:repeats:exon DNA:repeats:intron DNA:repeats: :
RGD
PMID:10673365 PMID:10833424 PMID:14767694 PMID:20609134
RGD:5132615 RGD:5132860 RGD:5132863 RGD:5132869
NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944
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NOS2
nitric oxide synthase 2
severity disease_progression no_association
ISO
DNA:repeats:promoter, introns (human) DNA:SNP:exon:p.S608L (human) protein:increased expression:lung, bronchoalveolar lavage fluid DNA:repeat:promoter protein:increased expression, increased activity:lung (rat) associated with Rhinitis, Allergic, Seasonal; protein:increased expression:nasal mucosa CTD Direct Evidence: marker/mechanism mRNA:increased expression:monocyte
RGD CTD
PMID:16540403 PMID:16703578 PMID:17161822 PMID:17177683 PMID:17189532 PMID:18254476 PMID:18714530 PMID:19800904 PMID:20841959 PMID:20842520 PMID:21847581 More...
RGD:4891419 RGD:4891480 RGD:4891508 RGD:4891910 RGD:4891924 RGD:4891925 RGD:4891927 RGD:4891953 RGD:4891957 RGD:5509073
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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NOS3
nitric oxide synthase 3
susceptibility
ISO
DNA:polymorphisms:promoter:c. -786C>T, -691C>T (human) DNA:repeats:intron DNA:snps, repeat, haplotype:promoter, introns, exons:multiple (human)
RGD
PMID:16081038 PMID:16837812 PMID:18486767
RGD:4892053 RGD:4892058 RGD:4892062
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
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NPSR1
neuropeptide S receptor 1
susceptibility
ISO
ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 2
OMIM ClinVar
PMID:15073379
NCBI chr18:38,942,499...39,212,791
Ensembl chr18:38,942,487...39,085,754
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NPY
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9731035
NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667
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NQO1
NAD(P)H quinone dehydrogenase 1
susceptibility
ISO
DNA:SNP:exon:c.609C>T (human) DNA:SNP:exon:c. 609C>T (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19027876 PMID:19591959 PMID:20049212
RGD:5135005 RGD:5135006
NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590
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NR3C1
nuclear receptor subfamily 3 group C member 1
susceptibility treatment severity
ISO
DNA:polymorphism:intron protein:increased expression, decreased activity:leukocyte, mononuclear
RGD
PMID:15295049 PMID:18396779 PMID:18799869 PMID:20727335 PMID:21113676 PMID:28297812 More...
RGD:408364991 RGD:4892328 RGD:4892568 RGD:4892594 RGD:4892609 RGD:7174728
NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
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NTF3
neurotrophin 3
ISO
protein:increased expression:lung, serum
RGD
PMID:11737043 PMID:17497413
RGD:4891068 RGD:4891123
NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,519...65,123,788
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NTF4
neurotrophin 4
ISO
protein:increased expression:lung, serum
RGD
PMID:17497413
RGD:4891068
NCBI chr 6:54,271,244...54,288,846
Ensembl chr 6:54,271,246...54,274,092
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NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
mRNA:increased expression:lung:
RGD
PMID:16708804 PMID:20934630
RGD:5684766 RGD:5684772
NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981
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ORMDL3
ORMDL sphingolipid biosynthesis regulator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21150878 PMID:25256354
NCBI chr12:22,411,130...22,417,744
Ensembl chr12:22,411,587...22,417,736
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P2RY12
purinergic receptor P2Y12
ISO
RGD
PMID:19822647 PMID:22010907
RGD:6480532 RGD:6480533
NCBI chr13:91,522,754...91,572,195
Ensembl chr13:91,521,817...91,572,005
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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 RGD
PMID:12594058 PMID:18261157 PMID:26205779
RGD:11073727 RGD:5683910
NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196
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PCD1B
CD1B antigen
susceptibility
ISO
associated with fasciolopsiasis
RGD
PMID:20304473
RGD:4140417
NCBI chr 4:92,035,122...92,040,724
Ensembl chr 4:92,031,712...92,040,742
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PDCD1
programmed cell death 1
treatment
ISO
associated with Chlamydia pneumonia
RGD
PMID:26378990
RGD:41412180
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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PDE4B
phosphodiesterase 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr 6:146,167,262...146,720,105
Ensembl chr 6:146,166,688...146,719,682
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PDE4D
phosphodiesterase 4D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19426955 PMID:21611147
NCBI chr16:37,897,300...39,406,534
Ensembl chr16:37,897,302...39,306,364
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PDGFB
platelet derived growth factor subunit B
ISO
protein: increased expression
RGD
PMID:21216974
RGD:6483071
Ensembl chr 5:8,986,462...9,007,435
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PGF
placental growth factor
ISO
RGD
PMID:22268141
RGD:6483605
NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
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PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
RGD
PMID:18754810
RGD:6482695
NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
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PIN1
peptidylprolyl cis/trans isomerase, NIMA-interacting 1
ISO
RGD
PMID:18188456
RGD:8693422
NCBI chr 2:68,715,898...68,729,471
Ensembl chr 2:68,715,880...68,729,870
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PLA2G4A
phospholipase A2 group IVA
ISO
RGD
PMID:15557087
RGD:1642462
NCBI chr 9:127,853,581...128,164,825
Ensembl chr 9:127,859,051...128,162,638
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PLA2G7
phospholipase A2 group VII
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10733466
RGD:1581025
NCBI chr 7:41,488,152...41,531,383
Ensembl chr 7:41,486,598...41,531,345
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PLAU
plasminogen activator, urokinase
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18519237 PMID:21912604
RGD:4892037
NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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PPP2CA
protein phosphatase 2 catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22205926
NCBI chr 2:136,497,780...136,522,630
Ensembl chr 2:136,494,541...136,522,646
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PRF1
perforin 1
ISO
RGD
PMID:21426642 PMID:22250087
RGD:6482815 RGD:6482818
NCBI chr14:73,515,306...73,520,256
Ensembl chr14:73,512,769...73,520,202
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PRMT1
protein arginine methyltransferase 1
ISO
mRNA:increased expression:lung
RGD
PMID:20423833
RGD:9491823
NCBI chr 6:54,718,845...54,730,411
Ensembl chr 6:54,714,157...54,732,574
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PRMT2
protein arginine methyltransferase 2
ISO
mRNA:increased expression:lung, spleen
RGD
PMID:20423833
RGD:9491823
G
PRMT3
protein arginine methyltransferase 3
ISO
mRNA:increased expression:lung
RGD
PMID:20423833
RGD:9491823
NCBI chr 2:38,884,311...39,032,944
Ensembl chr 2:38,884,362...39,032,996
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PRMT5
protein arginine methyltransferase 5
ISO
mRNA:increased expression:lung, spleen
RGD
PMID:20423833
RGD:9491823
NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,124,989
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PROC
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
RGD
PMID:26381519
RGD:11099992
NCBI chr15:25,043,543...25,054,310
Ensembl chr15:25,043,545...25,056,595
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PTEN
phosphatase and tensin homolog
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17982072
NCBI chr14:99,929,590...100,021,619
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PTGDR
prostaglandin D2 receptor
susceptibility
ISO
OMIM
NCBI chr 1:181,953,506...182,006,375
Ensembl chr 1:181,955,339...181,966,178
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PTGDR2
prostaglandin D2 receptor 2
ISO
CTD Direct Evidence: therapeutic Aspirin exacerbated asthma
RGD CTD
PMID:18757520 PMID:19392992 PMID:19796209 PMID:27103662
RGD:5135018 RGD:5135019 RGD:5135020
NCBI chr 2:10,891,280...10,897,194
Ensembl chr 2:10,892,011...10,903,017
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PTGER3
prostaglandin E receptor 3
treatment
ISO
RGD
PMID:23221044
RGD:10043366
NCBI chr 6:141,958,955...142,160,437
Ensembl chr 6:141,958,955...142,161,286
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PTGS2
prostaglandin-endoperoxide synthase 2
severity susceptibility
ISO
mRNA, protein:increased expression:lung: mRNA:increased expression:lung DNA:SNP: :rs689465 (human) DNA:SNP: :8473T>C (human)
RGD
PMID:15316498 PMID:17573729 PMID:18097056 PMID:18489027 PMID:19342146 PMID:19862936 PMID:19878559 More...
RGD:5135514 RGD:5135515 RGD:5135522 RGD:5135526 RGD:5135534 RGD:5143923 RGD:5143931
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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RAD50
RAD50 double strand break repair protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241537
NCBI chr 2:134,844,460...134,939,188
Ensembl chr 2:134,700,817...134,939,189
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RHOA
ras homolog family member A
ISO
RGD
PMID:18391481
RGD:2298885
NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607
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RUNX3
RUNX family transcription factor 3
ISO
OMIM:600807
MouseDO
NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026
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SCGB1A1
secretoglobin family 1A member 1
susceptibility
ISO
associated with allergic rhinitis; DNA:SNP:exon:38G>A (human) ClinVar Annotator: match by term: Asthma, susceptibility to
RGD ClinVar
PMID:9550363 PMID:9643286 PMID:12100044 PMID:21255142
RGD:5144226
NCBI chr 2:9,297,282...9,302,204
Ensembl chr 2:9,297,283...9,302,165
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SCGB3A2
secretoglobin family 3A member 2
susceptibility no_association severity
ISO
ClinVar Annotator: match by term: Asthma, susceptibility to DNA:SNP:promoter:-112G>A (human)
OMIM ClinVar RGD
PMID:11813133 PMID:18089940 PMID:18201431
RGD:5144230 RGD:5144231
NCBI chr 2:149,120,652...149,124,614
Ensembl chr 2:149,068,946...149,124,983
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SELL
selectin L
ISO
RGD
PMID:21437035 PMID:21515793
RGD:5685685 RGD:5685696
NCBI chr 4:81,306,363...81,325,296
Ensembl chr 4:81,306,353...81,326,444
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SERPINA1
serpin family A member 1
ISO
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 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645
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SERPINE1
serpin family E member 1
no_association susceptibility severity
ISO
DNA:polymorphism:promoter:rs1799768 (human) protein:increased activity, increased expression:plasma, lung protein:increased expression:plasma
RGD
PMID:18594148 PMID:19063817 PMID:19604112 PMID:19703828
RGD:4144831 RGD:4144832 RGD:4144833 RGD:4144836
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
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SFTPA1
surfactant protein A1
ISO
protein:decreased expression:lung protein:decreased expression:lung, Clara cell, pneumocyte mRNA, protein:increased expression:lung
RGD
PMID:15816355 PMID:16629790 PMID:18802356 PMID:18926058
RGD:4143289 RGD:4143398 RGD:4143462 RGD:4143516
NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
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SFTPB
surfactant protein B
ISO
protein:increased expression:lung protein:decreased expression:lung, Clara cell mRNA, protein:decreased expression:lung
RGD
PMID:11472974 PMID:15816355 PMID:16629790 PMID:18926058
RGD:4143289 RGD:4143398 RGD:4143462 RGD:4143465
NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,981...59,112,396
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SFTPC
surfactant protein C
susceptibility
ISO
protein:increased expression:lung mRNA, protein:decreased expression:lung DNA:polymorphism: :p.A53T (human)
RGD
PMID:11472974 PMID:16629790 PMID:19910179
RGD:4143462 RGD:4143465 RGD:4144063
NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
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SFTPD
surfactant protein D
ISO
protein:increased expression:lung mRNA, protein:increased expression:lung associated with Bronchitis;protein:increased expression:lung
RGD
PMID:11472974 PMID:16629790 PMID:16839409 PMID:18266831 PMID:18802356
RGD:4143462 RGD:4143465 RGD:4143508 RGD:4143516 RGD:4143517
NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
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SLA-8
MHC class I antigen 8
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM RGD CTD
PMID:15611928
RGD:5144118
NCBI chr 7:23,622,352...23,625,818
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SLA-DQA1
MHC class II histocompatibility antigen SLA-DQA
susceptibility
ISO
DNA:polymorphism: :rs3916765(human)
RGD
PMID:20159242
RGD:13506913
NCBI chr 7:24,953,472...24,959,313
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SLA-DRA
MHC class II DR-alpha
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:20159242
RGD:13506913
NCBI chr 7:24,825,037...24,830,650
Ensembl chr 7:24,825,052...24,835,158
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SLC11A1
solute carrier family 11 member 1
ISO
RGD
PMID:12847242
RGD:5684966
NCBI chr15:120,434,100...120,446,396
Ensembl chr15:120,433,952...120,446,396
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SLC18A3
solute carrier family 18 member A3
ISO
RGD
PMID:17328924
RGD:5686690
NCBI chr14:90,113,534...90,115,813
Ensembl chr14:90,113,844...90,115,430
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SLC22A1
solute carrier family 22 member 1
ISO
RGD
PMID:17328924
RGD:5686690
NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,126...7,365,520
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SLC5A7
solute carrier family 5 member 7
ISO
mRNA:decreased expression:lung
RGD
PMID:17328924
RGD:5686690
NCBI chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379
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SLC6A4
solute carrier family 6 member 4
susceptibility
ISO
DNA:repeat:intron (human)
RGD
PMID:19806585
RGD:4889460
NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378
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SOD1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22867017
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
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SOD2
superoxide dismutase 2
ISO
RGD
PMID:15743779
RGD:1581231
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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STAT4
signal transducer and activator of transcription 4
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18211752 PMID:28807506
RGD:2317290
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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STAT6
signal transducer and activator of transcription 6
treatment
ISO
RGD
PMID:16083555 PMID:19087723
RGD:7244151 RGD:7244153
NCBI chr 5:22,406,356...22,422,412
Ensembl chr 5:22,406,368...22,421,989
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TAC1
tachykinin precursor 1
ISO
protein:increased expression:lung
RGD
PMID:11031342
RGD:5147836
NCBI chr 9:77,197,403...77,206,529
Ensembl chr 9:77,197,536...77,206,523
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TACR1
tachykinin receptor 1
ISO
protein:increased expression:lung mRNA:increased expression:lung mRNA,protein:increased expression:lung
RGD
PMID:8240667 PMID:16409782 PMID:17392578
RGD:2304339 RGD:5147475 RGD:5147645
NCBI chr 3:67,839,367...68,021,733
Ensembl chr 3:67,839,411...68,021,724
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TACR2
tachykinin receptor 2
ISO
DNA:SNP:cds:p.G231E (human)
RGD
PMID:19880429 PMID:20175803
RGD:5147640 RGD:5147641
NCBI chr14:72,463,405...72,476,034
Ensembl chr14:72,462,046...72,475,554
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TAP1
transporter 1, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:12640628
RGD:5147845
NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,768...25,074,843
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TBX21
T-box transcription factor 21
ISO
CTD Direct Evidence: marker/mechanism OMIM:600807
CTD MouseDO
PMID:15806396
NCBI chr12:23,996,415...24,009,353
Ensembl chr12:23,996,415...24,009,355
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TBXA2R
thromboxane A2 receptor
severity susceptibility
ISO
DNA:polymorphism:cds:924T>C(human) ClinVar Annotator: match by term: Asthma
RGD ClinVar
PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:12000493 PMID:15805995 More...
RGD:11059534 RGD:11059535
NCBI chr 2:75,068,413...75,081,305
Ensembl chr 2:75,068,698...75,087,731
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TGFB1
transforming growth factor beta 1
no_association onset
ISO
protein:increased expression:serum DNA:polymorphisms: :multiple (human) DNA:SNP: :-509C>T (human) DNA:polymorphism: :-509C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:promoter, exon:multiple (human) mRNA:increased expression:lung DNA:SNP:cds:915G>C (human)
RGD CTD
PMID:16365456 PMID:17673695 PMID:18366906 PMID:18711258 PMID:19046298 PMID:19096005 PMID:19136038 PMID:19138248 PMID:19222424 PMID:19317336 PMID:19533439 PMID:19620629 PMID:20485865 More...
RGD:4143443 RGD:4145113 RGD:4145132 RGD:4145139 RGD:4145142 RGD:4145143 RGD:4145144 RGD:4145280 RGD:4145295 RGD:4145297 RGD:4145299
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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THBD
thrombomodulin
ISO
RGD
PMID:20709825
RGD:5684984
NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099
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TIMP3
TIMP metallopeptidase inhibitor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16926187
NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581
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TLR1
toll like receptor 1
susceptibility
ISO
DNA:SNP (human)
RGD
PMID:18547625
RGD:4889528
NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
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TLR10
toll like receptor 10
susceptibility
ISO
DNA:SNP (human)
RGD
PMID:18547625
RGD:4889528
NCBI chr 8:30,124,895...30,134,854
Ensembl chr 8:30,124,895...30,134,854
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TLR2
toll like receptor 2
susceptibility severity
ISO
DNA:SNP: :rs7656411 (human) DNA:SNP: :rs4696480 (human) DNA:polymorphism:cds:p.R753Q(human) DNA:SNP: :596T>C (human) DNA:SNP: :rs3804100 (human)
RGD
PMID:18202345 PMID:18787777 PMID:19096003 PMID:19148143 PMID:20685742 PMID:20815312 PMID:22402138 More...
RGD:2312679 RGD:4144171 RGD:4144228 RGD:4145334 RGD:4145343 RGD:4145352 RGD:7800732
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR3
toll like receptor 3
no_association
ISO
DNA:snp:cds:p.L412F (human) Asthma, Virus-Induced; mRNA:increased expression:sputum (human)
RGD
PMID:14987294 PMID:17434873 PMID:17610940 PMID:21129050 PMID:21364926
RGD:5128500 RGD:5129226 RGD:5129475 RGD:5129478 RGD:5129493
NCBI chr15:46,966,262...46,977,774
Ensembl chr15:46,969,006...46,979,291
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TLR4
toll like receptor 4
no_association susceptibility severity
ISO
DNA:SNPs: :rs10983755, rs1927914 (human) DNA:SNPs:: DNA:Polymorphism:cds:p.D299G (human) DNA:polymorphisms:cds:c.896A>G, 1196C>T (human) protein:decreased expression:leukocytes, mononuclear
RGD
PMID:15356557 PMID:16266379 PMID:19067129 PMID:19159017 PMID:19330007 PMID:20628601 PMID:20685742 More...
RGD:4144141 RGD:4144171 RGD:4144176 RGD:4144188 RGD:4144190 RGD:4144198 RGD:4144817
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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TLR6
toll like receptor 6
susceptibility
ISO
DNA:SNP (human) DNA:SNP: :p.S249P (human)
RGD
PMID:15266299 PMID:18547625
RGD:4889528 RGD:4889538
NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
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TLR9
toll like receptor 9
severity susceptibility no_association
ISO
protein:increased expression:peripheral blood mononuclear cell (human) DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) DNA:SNP:promoter:g.-1237T>C rs5743836 (human)
RGD
PMID:18312481 PMID:20016192 PMID:20072849 PMID:21324137
RGD:4144208 RGD:4889523 RGD:5129104 RGD:5130712
NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
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TNC
tenascin C
ISO
protein:increased expression:bronchus basement membrane DNA:SNP:exon:p.L1677I (human) DNA:SNPs: :multiple (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9310019 PMID:16115819 PMID:17125141 PMID:18305139
RGD:4889565 RGD:4889569 RGD:4889572 RGD:4889589
NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376
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TNF
tumor necrosis factor
no_association susceptibility
ISO
DNA:polymorphism:promoter: ClinVar Annotator: match by term: Asthma, susceptibility to
RGD OMIM ClinVar
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 PMID:11826025 PMID:11896460 PMID:12485196 PMID:12530118 PMID:12746914 PMID:12759288 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16720636 PMID:16865291 PMID:16909270 PMID:18050183 PMID:18713756 PMID:19365401 PMID:22760475 PMID:22992668 More...
RGD:4143254
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
protein:increased expression:lung (mouse)
RGD
PMID:20484920
RGD:5131201
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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TNIP1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24453940
NCBI chr16:71,926,038...71,979,969
Ensembl chr16:71,926,133...71,979,966
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TRPA1
transient receptor potential cation channel subfamily A member 1
severity
ISO
CTD Direct Evidence: marker/mechanism ovalbumin sensitization
CTD RGD
PMID:19458046 PMID:31969645
RGD:127285811
NCBI chr 4:63,493,374...63,558,486
Ensembl chr 4:63,508,104...63,558,484
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TSLP
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21804549
NCBI chr 2:115,832,152...115,837,572
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UCN
urocortin
ISO
associated with Hypersensitivity;mRNA, protein:increased expression:lung
RGD
PMID:16427607
RGD:1642781
NCBI chr 3:111,834,082...111,835,932
Ensembl chr 3:111,835,125...111,835,508
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UTS2
urotensin 2
ISO
RGD
PMID:17045018
RGD:2306832
NCBI chr 6:68,552,889...68,560,827
Ensembl chr 6:68,552,887...68,559,674
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VDR
vitamin D receptor
no_association
ISO
DNA:SNP: :rs7975232 (human) DNA:SNPs: :multiple (human) DNA:SNP (human) DNA:SNPs (human)
RGD
PMID:15282200 PMID:19622139 PMID:20124605 PMID:21103062
RGD:4889854 RGD:4889866 RGD:4889867 RGD:4889868
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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VEGFA
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:sputum
CTD RGD
PMID:11907124 PMID:15201500 PMID:19178538 PMID:19263519
RGD:6892723
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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VIP
vasoactive intestinal peptide
ISO
RGD
PMID:16782752 PMID:21419198
RGD:5685381 RGD:5685620
NCBI chr 1:13,611,786...13,620,250
Ensembl chr 1:13,611,311...13,620,269
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WDR36
WD repeat domain 36
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19198610
NCBI chr 2:115,835,099...115,907,643
Ensembl chr 2:115,861,811...115,906,304
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CXCL8
C-X-C motif chemokine ligand 8
treatment
ISO
RGD
PMID:30059697
RGD:39939057
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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CCL26
C-C motif chemokine ligand 26
treatment
ISO
RGD
PMID:25530546
RGD:11081163
NCBI chr 3:10,381,306...10,385,677
Ensembl chr 3:10,381,306...10,385,677
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CYSLTR1
cysteinyl leukotriene receptor 1
treatment
ISO
RGD
PMID:23933317
RGD:40903070
NCBI chr X:62,380,778...62,407,736
Ensembl chr X:62,380,780...62,456,689
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EPX
eosinophil peroxidase
ISO
protein:increased expression:urine:
RGD
PMID:11846868
RGD:13506893
NCBI chr12:34,486,139...34,498,879
Ensembl chr12:34,486,144...34,498,875
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IL25
interleukin 25
treatment
ISO
RGD
PMID:17889290
RGD:40902975
NCBI chr 7:75,710,453...75,717,688
Ensembl chr 7:75,709,995...75,714,355
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SLA-3
MHC class I antigen 3
susceptibility
ISO
DNA:polymorphism:
RGD
PMID:28380482
RGD:13506910
NCBI chr 7:22,938,211...22,942,735
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TREM1
triggering receptor expressed on myeloid cells 1
exacerbates
ISO
RGD
PMID:21592044
RGD:126928124
NCBI chr 7:36,510,253...36,531,796
Ensembl chr 7:36,510,253...36,531,796
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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 6:56,123,598...56,151,145
Ensembl chr 6:56,129,834...56,151,133
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CCR2
C-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20022477 PMID:20485159
RGD:4145619
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,286,467
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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:62,380,778...62,407,736
Ensembl chr X:62,380,780...62,456,689
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CYSLTR2
cysteinyl leukotriene receptor 2
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human)
CTD RGD
PMID:15970796 PMID:16502481 PMID:20485159
RGD:5144000
NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015
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FANCC
FA complementation group C
ISO
DNA:haplotype::rs4647416(human)
RGD
PMID:21670957
RGD:11045795
NCBI chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801
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IL4
interleukin 4
susceptibility
ISO
DNA:SNPs:promoter,5'UTR,intron:multiple
RGD
PMID:20921925
RGD:11528633
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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LTC4S
leukotriene C4 synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9393345 PMID:9466979 PMID:10970818 PMID:20485159
NCBI chr 2:78,799,446...78,802,281
Ensembl chr 2:78,799,449...78,802,285
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MS4A2
membrane spanning 4-domains A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr 2:11,400,415...11,420,314
Ensembl chr 2:11,400,420...11,420,298
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POSTN
periostin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18391768
NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,224,959...13,258,978
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PTGDR2
prostaglandin D2 receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 2:10,891,280...10,897,194
Ensembl chr 2:10,892,011...10,903,017
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PTGER2
prostaglandin E receptor 2
ISO
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to
ClinVar
PMID:15496426
NCBI chr 1:181,993,961...182,009,959
Ensembl chr 1:181,994,560...182,009,953
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PTGIR
prostaglandin I2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 6:52,522,639...52,527,338
Ensembl chr 6:52,522,638...52,527,345
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:mast cell CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9487340 PMID:16502481 PMID:20485159
RGD:5143936
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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TAP2
transporter 2, ATP binding cassette subfamily B member
ISO
RGD
PMID:21796142
RGD:5147839
NCBI chr 7:25,045,085...25,056,915
Ensembl chr 7:25,043,840...25,056,922
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TBX21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to
ClinVar
PMID:15806396
NCBI chr12:23,996,415...24,009,353
Ensembl chr12:23,996,415...24,009,355
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TBXA2R
thromboxane A2 receptor
susceptibility
ISO
DNA:polymorphism: :795T>C (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15898979 PMID:16502481 PMID:20485159
RGD:11059537
NCBI chr 2:75,068,413...75,081,305
Ensembl chr 2:75,068,698...75,087,731
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SLA-DRA
MHC class II DR-alpha
susceptibility
ISO
DNA:SNPs,haplotype:introns:
RGD
PMID:22391069
RGD:13506908
NCBI chr 7:24,825,037...24,830,650
Ensembl chr 7:24,825,052...24,835,158
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TBX21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Asthma and nasal polyps
ClinVar
PMID:15806396
NCBI chr12:23,996,415...24,009,353
Ensembl chr12:23,996,415...24,009,355
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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:25741868 PMID:30643255
NCBI chr12:52,287,174...52,295,873
Ensembl chr12:52,287,160...52,295,871
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LTC4S
leukotriene C4 synthase
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:25741868
NCBI chr 2:78,799,446...78,802,281
Ensembl chr 2:78,799,449...78,802,285
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PTGER2
prostaglandin E receptor 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 1:181,993,961...182,009,959
Ensembl chr 1:181,994,560...182,009,953
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TBX21
T-box transcription factor 21
susceptibility
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar OMIM
PMID:25741868
NCBI chr12:23,996,415...24,009,353
Ensembl chr12:23,996,415...24,009,355
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NFKBIA
NFKB inhibitor alpha
exacerbates
ISO
associated with respiratory syncytial virus infectious disease;DNA:SNPs:protomer: (rs2233409) (human)
RGD
PMID:23487427
RGD:40902982
NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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NGF
nerve growth factor
treatment
ISO
RGD
PMID:30681402
RGD:405100716
NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837
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CCL26
C-C motif chemokine ligand 26
severity
ISO
protein:increased expression:sputum (human)
RGD
PMID:25936567
RGD:11531115
NCBI chr 3:10,381,306...10,385,677
Ensembl chr 3:10,381,306...10,385,677
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EPX
eosinophil peroxidase
treatment
ISO
RGD
PMID:28751233
RGD:13506890
NCBI chr12:34,486,139...34,498,879
Ensembl chr12:34,486,144...34,498,875
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ALOX5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:10984370
RGD:4890423
NCBI chr14:90,859,209...90,907,084
Ensembl chr14:90,859,019...90,907,090
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CCL5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, secretion (human)
RGD
PMID:19996575
RGD:4892021
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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TACR1
tachykinin receptor 1
ISO
RGD
PMID:8630576
RGD:5147837
NCBI chr 3:67,839,367...68,021,733
Ensembl chr 3:67,839,411...68,021,724
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ACSL3
acyl-CoA synthetase long chain family member 3
ISO
RGD
PMID:23526225
RGD:13831300
NCBI chr15:124,741,986...124,816,955
Ensembl chr15:124,765,854...124,816,960
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BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:29713367
RGD:13792581
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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CD86
CD86 molecule
treatment
ISO
RGD
PMID:25344652
RGD:11354965
NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
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FAS
Fas cell surface death receptor
treatment
ISO
RGD
PMID:29713367
RGD:13792581
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FASLG
Fas ligand
treatment
ISO
RGD
PMID:29713367
RGD:13792581
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
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IL23A
interleukin 23 subunit alpha
ISO
RGD
PMID:19935773 PMID:26344076
RGD:11251537 RGD:5037240
NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
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AGER
advanced glycosylation end-product specific receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33075463
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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CDH17
cadherin 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25918132
NCBI chr 4:42,508,852...42,597,888
Ensembl chr 4:42,515,276...42,597,772
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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 chr15:56,438,117...56,649,805
Ensembl chr15:56,438,148...56,649,792
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PLA2G4A
phospholipase A2 group IVA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27504716
NCBI chr 9:127,853,581...128,164,825
Ensembl chr 9:127,859,051...128,162,638
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PRKCA
protein kinase C alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27504716
NCBI chr12:12,882,287...13,268,647
Ensembl chr12:12,882,064...13,263,554
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PRKD1
protein kinase D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27504716
NCBI chr 7:69,527,743...69,872,374
Ensembl chr 7:69,527,811...69,872,863
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PTGS1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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SLA-DOA
major histocompatibility complex, class II, DO alpha
treatment
ISO
DNA:SNP: :rs3128935(human)
RGD
PMID:24709764
RGD:13506912
NCBI chr 7:25,178,866...25,182,665
Ensembl chr 7:25,178,881...25,182,707
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TENM3
teneurin transmembrane protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25918132
NCBI chr15:41,818,190...44,401,747
Ensembl chr15:43,540,375...44,399,711
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TGFB1
transforming growth factor beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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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 More...
NCBI chr 7:41,488,152...41,531,383
Ensembl chr 7:41,486,598...41,531,345
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IFNG
interferon gamma
resistance
ISO
RGD
PMID:20817868
RGD:4145651
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
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IL5
interleukin 5
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:10934091
RGD:4890960
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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LOC110258578
interleukin-1 beta-like
ISO
protein:increased expression:lung
RGD
PMID:9927362
RGD:4143184
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MPO
myeloperoxidase
ISO
protein:increased expression:serum
RGD
PMID:10731862
RGD:5130994
NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
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