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: obstructive lung disease
Accession: DOID:2320
browse the term
Definition: A lung disease that is characterized by narrowing of pulmonary airways. (DO)
Synonyms: exact_synonym: obstructive lung diseases; obstructive pulmonary disease; obstructive pulmonary diseases; respiratory airway obstruction
primary_id: MESH:D008173
For additional species annotation, visit the
Alliance of Genome Resources .
G
A2m
alpha-2-macroglobulin
ISO
RGD
PMID:2475424
RGD:1300321
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
G
Ccno
cyclin O
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747639
NCBI chr 2:44,630,873...44,633,912
Ensembl chr 2:44,626,369...44,633,914
G
Foxf1
forkhead box F1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18421012
NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738
G
Grk5
G protein-coupled receptor kinase 5
ISO
RGD
PMID:14565944
RGD:5688385
NCBI chr 1:260,028,269...260,223,699
Ensembl chr 1:260,028,242...260,218,701
G
Mmp1
matrix metallopeptidase 1
severity
ISO
DNA:insertion:promoter:g.-1607insG (human)
RGD
PMID:11875051
RGD:4890377
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9926163
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
G
Scnn1b
sodium channel epithelial 1 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27982104
NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
G
Ccl26
C-C motif chemokine ligand 26
treatment
ISO
RGD
PMID:25530546
RGD:11081163
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
G
Cysltr1
cysteinyl leukotriene receptor 1
treatment
ISO
RGD
PMID:23933317
RGD:40903070
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
G
Epx
eosinophil peroxidase
ISO
protein:increased expression:urine:
RGD
PMID:11846868
RGD:13506893
NCBI chr10:72,666,865...72,677,952
Ensembl chr10:72,666,865...72,677,952
G
Il25
interleukin 25
treatment
ISO
RGD
PMID:17889290
RGD:40902975
NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
G
RT1-B
RT1 class II, locus B
susceptibility
ISO
DNA:polymorphism:
RGD
PMID:28380482
RGD:13506910
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
RGD
PMID:22397267
RGD:13506905
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
RT1-Ha
RT1 class II, locus Ha
susceptibility
ISO
DNA:polymorphism:
RGD
PMID:28380482
RGD:13506910
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
G
RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility
ISO
DNA:polymorphism:
RGD
PMID:28380482
RGD:13506910
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
G
Trem1
triggering receptor expressed on myeloid cells 1
exacerbates
ISO
RGD
PMID:21592044 PMID:21592044
RGD:126928124 , RGD:126928124
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
G
Cacng6
calcium voltage-gated channel auxiliary subunit gamma 6
susceptibility
ISO
DNA:SNP,haplotype:rs192808(human)
RGD
PMID:20860846
RGD:13524562
NCBI chr 1:65,732,910...65,747,377
Ensembl chr 1:65,732,632...65,747,341
G
Ccr3
C-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20485159 PMID:20022477
RGD:4145619
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
G
Cysltr1
cysteinyl leukotriene receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481 PMID:17641958 PMID:20485159
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
G
Cysltr2
cysteinyl leukotriene receptor 2
ISO
DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16502481 PMID:20485159 PMID:15970796
RGD:5144000
NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
G
Fancc
FA complementation group C
ISO
DNA:haplotype::rs4647416(human)
RGD
PMID:21670957
RGD:11045795
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
G
Il4
interleukin 4
susceptibility
ISO
DNA:SNPs:promoter,5'UTR,intron:multiple
RGD
PMID:20921925
RGD:11528633
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Ltc4s
leukotriene C4 synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9393345 PMID:9466979 PMID:10970818 PMID:20485159
NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
G
Ms4a2
membrane spanning 4-domains A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
G
Postn
periostin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18391768
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
G
Ptgdr2
prostaglandin D2 receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213
G
Ptger2
prostaglandin E receptor 2
ISO
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15496426 PMID:16502481
NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714
G
Ptgir
prostaglandin I2 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20485159
NCBI chr 1:77,579,596...77,581,979
Ensembl chr 1:77,579,596...77,581,979
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:mast cell CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16502481 PMID:20485159 PMID:9487340
RGD:5143936
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
RGD
PMID:25975240
RGD:11074090
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
RGD
PMID:25975240
RGD:11074090
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
RGD
PMID:25975240
RGD:11074090
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16502481
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
G
Tap2
transporter 2, ATP binding cassette subfamily B member
ISO
RGD
PMID:21796142
RGD:5147839
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
G
Tbx21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15806396 PMID:16502481
NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
G
Tbxa2r
thromboxane A2 receptor
susceptibility
ISO
DNA:polymorphism: :795T>C (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16502481 PMID:20485159 PMID:15898979
RGD:11059537
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
G
Abcb1a
ATP binding cassette subfamily B member 1A
ISO
protein:increased expression:blood, lymphocyte
RGD
PMID:19484671
RGD:4890020
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
G
Abcc1
ATP binding cassette subfamily C member 1
ISO
RGD
PMID:18931056
RGD:5128825
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
G
Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
no_association
ISO
RGD
PMID:19771478 PMID:16008680
RGD:5128835 , RGD:5128831
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
G
Ace
angiotensin I converting enzyme
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:19484664 PMID:19383228
RGD:4140913 , RGD:4140919
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Acsl3
acyl-CoA synthetase long-chain family member 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:19221603
RGD:13831295
NCBI chr 9:80,115,164...80,164,636
Ensembl chr 9:80,115,112...80,164,627
G
Ada
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms (human)
RGD
PMID:16754522
RGD:5128848
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Adam33
ADAM metallopeptidase domain 33
susceptibility no_association disease_progression
ISO
mRNA:increased expression:lung DNA:polymorphism: :p.M764T (human) DNA:SNPs:introns,exon:7575G>A, 11188A>T, 12433T>C (human) mRNA:increased expression:bronchus DNA:SNPs (human) DNA:SNPs: :multiple (human)
RGD GAD
PMID:19635592 PMID:17961406 PMID:16893396 PMID:15118671 PMID:17339047 PMID:19940503 PMID:18778489 More...
RGD:4145360 , RGD:4145379 , RGD:4145382 , RGD:1331525 , RGD:4145380 , RGD:4145359 , RGD:4145378
NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461
G
Adam8
ADAM metallopeptidase domain 8
severity
ISO
mRNA:increased expression:bronchus mRNA:increased expression:respiratory tract
RGD
PMID:17339047 PMID:20194813 PMID:19373511
RGD:4145380 , RGD:5128872 , RGD:5128878
NCBI chr 1:194,776,559...194,789,330
Ensembl chr 1:194,770,060...194,788,801
G
Adcy2
adenylate cyclase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr 1:34,375,639...34,822,252
Ensembl chr 1:34,375,895...34,822,236
G
Adcyap1r1
ADCYAP receptor type I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21059121
NCBI chr 4:84,593,558...84,642,700
Ensembl chr 4:84,593,892...84,642,700
G
Adh5
alcohol dehydrogenase 5 (class III), chi polypeptide
susceptibility
ISO
protein:increased expression:respiratory system fluid/secretion DNA:SNPs: :rs1154404, rs28730619 (human)
RGD
PMID:19395503 PMID:17543375 PMID:19514054 PMID:15919956
RGD:5128891 , RGD:5128882 , RGD:5128890 , RGD:5128892
NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:19168697
RGD:5686821
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Adora1
adenosine A1 receptor
ISO
DNA:SNPs: :1405C>T (human) protein:increased expression:bronchus
RGD
PMID:19019667 PMID:17959644 PMID:20400685
RGD:4890386 , RGD:5129097 , RGD:4145444
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
G
Adora2a
adenosine A2a receptor
ISO
mRNA:decreased expression:aorta DNA:SNP (human)
RGD
PMID:17293374 PMID:18310516 PMID:19019667 PMID:16339780
RGD:4890380 , RGD:4890366 , RGD:4890386 , RGD:4890385
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
G
Adrb2
adrenoceptor beta 2
susceptibility
ISO
ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to DNA:SNP: :-1023A>G (human) DNA:SNPs: :p.R16G, p.Q27E (human) DNA:SNPs:promoter:multiple (human) DNA:polymorphism: :p.R16G (human) DNA:SNP: :p.Q27E (human)
ClinVar RGD
PMID:8383511 PMID:15284533 PMID:16596417 PMID:1655856 PMID:15118671 PMID:19638684 PMID:18785519 PMID:19423772 PMID:20443840 PMID:19029431 PMID:20004781 PMID:19800676 PMID:18569231 More...
RGD:5129113 , RGD:1331525 , RGD:4145081 , RGD:4145094 , RGD:4145107 , RGD:4145108 , RGD:4145092 , RGD:4145105 , RGD:4145061 , RGD:4145096
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
G
Ager
advanced glycosylation end product-specific receptor
treatment onset
ISO IDA IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:lung (rat)
CTD RGD
PMID:33075463 PMID:21920897 PMID:23304218 PMID:23304218
RGD:6767554 , RGD:7244279 , RGD:7244279
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
G
Agtr1a
angiotensin II receptor, type 1a
ISO IMP
RGD
PMID:17877756 PMID:19080339
RGD:5147452 , RGD:5147457
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
G
Agtr2
angiotensin II receptor, type 2
IEP
mRNA, protein:increased expression:lung
RGD
PMID:19080339
RGD:5147457
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
G
Aldh2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9600491 PMID:11506308 PMID:15118671
RGD:1331525
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
G
Alox15
arachidonate 15-lipoxygenase
ISO
protein:increased expression:lung
RGD
PMID:19628725 PMID:18692885
RGD:5509605 , RGD:5509784
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
G
Alox5
arachidonate 5-lipoxygenase
no_association treatment severity
ISO
DNA:polymorphism:promoter (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:blood, leukocyte protein:increased expression:lung DNA:repeat:promoter (human) DNA:polymorphism:cds:p.E254K (human)
OMIM CTD RGD
PMID:20128419 PMID:9642160 PMID:12911785 PMID:8879219 PMID:11035107 PMID:19033731 PMID:10369259 PMID:16364163 PMID:17394438 PMID:18204779 More...
RGD:4890407 , RGD:5147467 , RGD:5147465 , RGD:5147462 , RGD:4890422 , RGD:4890408 , RGD:734557 , RGD:4890415 , RGD:4890413 , RGD:4890410
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
G
Alox5ap
arachidonate 5-lipoxygenase activating protein
susceptibility no_association
ISO
DNA:SNP: :rs10507391 (human) mRNA:increased expression:blood, leukocyte DNA:repeat:promoter:-169(A)21 (human) DNA:substitution, repeat:promoter:-336G>A, -169(A)19-23 (human) DNA:polymorphisms:intron:IVS2+12C>A, IVS2+105T>C (human) protein:increased expression:lung DNA:polymorphism:promoter (human) DNA:SNPs (human)
RGD
PMID:20067482 PMID:9642160 PMID:10527888 PMID:12911785 PMID:15784112 PMID:8879219 PMID:11035107 PMID:20128419 PMID:18547289 More...
RGD:4890405 , RGD:5147467 , RGD:5147466 , RGD:5147465 , RGD:5147464 , RGD:5147462 , RGD:4890422 , RGD:4890407 , RGD:4890409
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
G
Ambp
alpha-1-microglobulin/bikunin precursor
ISO
protein:increased expression:serum
RGD
PMID:14621078
RGD:6904149
NCBI chr 5:76,568,094...76,578,416
Ensembl chr 5:76,568,094...76,578,331
G
Ang
angiogenin
severity
ISO
protein:increased expression:sputum
RGD
PMID:16478840
RGD:6892719
NCBI chr15:24,312,711...24,323,361
G
Anxa1
annexin A1
ISO
RGD
PMID:22092555
RGD:7421657
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
G
Areg
amphiregulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15696081
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
G
Arg1
arginase 1
ISO
DNA:SNP: :rs2781667 (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) mRNA, protein:increased expression:lung, mononuclear cell (human)
CTD RGD
PMID:19281908 PMID:19800904 PMID:20124949 PMID:12813022 PMID:12813022
RGD:5129205 , RGD:4143187 , RGD:4143187
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
G
Arg2
arginase 2
severity susceptibility
ISO
DNA:SNP: :rs3742879, rs17249437 (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) DNA:SNPs (human)
CTD RGD
PMID:19281908 PMID:20124949 PMID:12813022 PMID:16387594
RGD:5129205 , RGD:4143187 , RGD:5129207
NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
G
Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18357729
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Bdkrb2
bradykinin receptor B2
onset
ISO IMP
DNA:polymorphism:exon (human) protein:increased expression:blood, eosinophil
RGD
PMID:11517947 PMID:14727005 PMID:8856156 PMID:19038786
RGD:4890456 , RGD:4890454 , RGD:4891042 , RGD:4891028
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
G
Bdnf
brain-derived neurotrophic factor
susceptibility severity
ISO
protein:decreased expression:blood, eosinophil DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) DNA:polymorphisms: :p.V66M, -270C>T (human) DNA:polymorphisms: :p.V66M (rs6265) (human) protein:increased expression:plasma
RGD
PMID:12752594 PMID:21723144 PMID:17584309 PMID:19895626 PMID:20874832 PMID:11737043 More...
RGD:4891122 , RGD:8655967 , RGD:4891067 , RGD:4891117 , RGD:4891063 , RGD:4891123
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
G
Bglap
bone gamma-carboxyglutamate protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8429434
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
G
Bmpr1b
bone morphogenetic protein receptor type 1B
ISO
protein:decreased expression:bronchus
RGD
PMID:18292470
RGD:5129470
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
G
Bmpr2
bone morphogenetic protein receptor type 2
ISO
protein:decreased expression:bronchus
RGD
PMID:18292470
RGD:5129470
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
G
C3
complement C3
severity
ISO
DNA:SNPs: :multiple (human) protein:increased expression:serum DNA:SNP: :4896C>T (human) DNA:SNP:intron:rs11569562 (human) Interaction with IL4RA protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16355111 PMID:20589464 PMID:15278436 PMID:18566738 PMID:20402389 PMID:20395963 PMID:20802484 PMID:11591733 More...
RGD:5129505 , RGD:5129519 , RGD:5129512 , RGD:5129501 , RGD:5129537 , RGD:5129538 , RGD:5129681 , RGD:5129517
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
C3ar1
complement C3a receptor 1
severity
ISO IEP
mRNA:increased expression:lung protein:increased expression:lung, leukocyte
RGD
PMID:20045013 PMID:17544263 PMID:20802484 PMID:15940127 PMID:15278436
RGD:5129686 , RGD:5129560 , RGD:5129681 , RGD:5129561 , RGD:5129512
NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
G
C5
complement C5
severity
ISO IDA
mRNA:decreased expression:lung
RGD
PMID:10973279 PMID:20143644 PMID:20802484 PMID:15278436 PMID:11591795
RGD:5130158 , RGD:5129706 , RGD:5129681 , RGD:5129512 , RGD:1600651
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
G
C5ar1
complement C5a receptor 1
severity
ISO IEP
protein:increased expression:lung, leukocyte protein:increased expression:respiratory tract
RGD
PMID:20802484 PMID:17544263 PMID:15940127 PMID:16511606
RGD:5129681 , RGD:5129560 , RGD:5129561 , RGD:5130166
NCBI chr 1:76,948,622...76,959,826
G
Card11
caspase recruitment domain family, member 11
susceptibility
ISO
ClinVar Annotator: match by term: Asthma
ClinVar RGD
PMID:18323416 PMID:23027925 PMID:23129749 PMID:25352053 PMID:25741868 PMID:26861442 PMID:28492532 PMID:28824638 PMID:29472930 PMID:16751370 More...
RGD:11100037
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
G
Carm1
coactivator-associated arginine methyltransferase 1
IEP
mRNA:decreased expression:lung
RGD
PMID:20423833
RGD:9491823
NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
G
Casp1
caspase 1
ISO
protein:increased expression:serum
RGD
PMID:12396474
RGD:5130192
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
G
Cat
catalase
severity
ISO
DNA:polymorphism:promoter:-21A>T (human) CTD Direct Evidence: marker/mechanism protein:decreased activity:respiratory system fluid/secretion DNA:polymorphism:promoter:-262C>T (human) protein:increased expression:erythrocyte
CTD RGD
PMID:18048809 PMID:19373626 PMID:16622028 PMID:18048809 PMID:19475625
RGD:5130753 , RGD:5130867 , RGD:5130856 , RGD:5130751
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Ccl1
C-C motif chemokine ligand 1
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20455898
RGD:4891420
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
G
Ccl11
C-C motif chemokine ligand 11
susceptibility treatment severity
ISO IDA IEP
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.A23T (human) mRNA:increased expression:lung
OMIM CTD RGD
PMID:16304252 PMID:22932891 PMID:17074272 PMID:9034156 PMID:17845580 PMID:18250471 PMID:20704746 PMID:17060636 More...
RGD:5130930 , RGD:7248416 , RGD:4145461 , RGD:4145451 , RGD:4145457 , RGD:4145392 , RGD:4145387 , RGD:4891485
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
G
Ccl17
C-C motif chemokine ligand 17
IEP ISO
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion
RGD
PMID:15993846 PMID:15947487 PMID:20074456 PMID:20237293 PMID:11160256
RGD:2306304 , RGD:4145513 , RGD:4145487 , RGD:4145486 , RGD:4145603
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
G
Ccl19
C-C motif chemokine ligand 19
ISO
protein:increased expression:bronchus submucosa, mast cell
RGD
PMID:16959919
RGD:5130911
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
G
Ccl2
C-C motif chemokine ligand 2
severity treatment
ISO IEP
protein:increased expression:serum CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) DNA:haplotype::-2518A>G (human) protein:increased expression:lung
CTD RGD
PMID:19373627 PMID:19373627 PMID:12055264 PMID:25441643 PMID:23454776 PMID:17964702 PMID:20205697 More...
RGD:4891466 , RGD:11528570 , RGD:11528569 , RGD:8551842 , RGD:2307055 , RGD:4145509
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:respiratory system fluid/secretion associated with Allergic Rhinitis;protein:increased expression:serum
RGD
PMID:18422729 PMID:22469443
RGD:7483597 , RGD:7483618
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
G
Ccl22
C-C motif chemokine ligand 22
ISO IEP
protein:increased expression:respiratory system fluid/secretion mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion mRNA:increased expression:lung
RGD
PMID:18316417 PMID:10384142 PMID:18684970 PMID:15993846
RGD:4891474 , RGD:4891475 , RGD:4145489 , RGD:2306304
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
G
Ccl24
C-C motif chemokine ligand 24
susceptibility
ISO
DNA:SNPs: :179T>C, 275C>T (human) protein:increased expression:respiratory system fluid/secretion DNA:SNP: :1265A>G (human) DNA:SNPs: :304C>A, 1272A>G (human) protein:increased expression:plasma
RGD
PMID:15207712 PMID:17548626 PMID:12952266 PMID:12761043 PMID:18712274 PMID:17060636 PMID:16304252 More...
RGD:4891495 , RGD:4891484 , RGD:4891496 , RGD:5130932 , RGD:4891483 , RGD:4891485 , RGD:5130930
NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
G
Ccl26
C-C motif chemokine ligand 26
treatment
ISO IDA
protein:increased expression:plasma DNA:SNPs: :77C>T, 2497T>G (human) DNA:SNPs: :77C>T, 716A>G, 1579G>A (human)
RGD
PMID:16304252 PMID:25399816 PMID:25530546 PMID:15207712 PMID:18712274
RGD:5130930 , RGD:11087575 , RGD:11081163 , RGD:4891495 , RGD:4891483
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
G
Ccl27
C-C motif chemokine ligand 27
ISO
RGD
PMID:19541356
RGD:5130899
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
G
Ccl28
C-C motif chemokine ligand 28
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:16290206
RGD:4892195
NCBI chr 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997
G
Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:18774390
RGD:5130915
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
G
Ccl5
C-C motif chemokine ligand 5
susceptibility
IEP ISO
protein:increased expression:smooth muscle cell CTD Direct Evidence: marker/mechanism DNA:transition:5' utr:-403G>A (human) protein:increased expression:lung, secretion (mouse)
CTD RGD
PMID:8534483 PMID:18208670 PMID:20430255 PMID:20092989
RGD:2307112 , RGD:4891381 , RGD:4891430
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccl7
C-C motif chemokine ligand 7
ISO
RGD
PMID:21388664 PMID:19965981
RGD:5130983 , RGD:5130979
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
G
Ccr1
C-C motif chemokine receptor 1
severity
ISO
mRNA:increased expression:lung associated with Respiratory Syncytial Virus Infections
RGD
PMID:15654816 PMID:15593301
RGD:5688158 , RGD:5688159
NCBI chr 8:123,556,286...123,561,841
G
Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:SNP:cds:p.V64I (human) DNA:haplotype:cds:p.V64I(human) protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:17298432 PMID:23454776 PMID:19917684
RGD:4145110 , RGD:8551842 , RGD:8549811
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Ccr3
C-C motif chemokine receptor 3
ISO IMP
protein:increased expression:respiratory system fluid/secretion, neutrophil DNA:SNP:exon:51T>C (human)
RGD
PMID:18699933 PMID:19017998 PMID:20220260 PMID:16978084 PMID:19657453 PMID:20134116 PMID:17145927 More...
RGD:4145633 , RGD:4145632 , RGD:4145638 , RGD:4145646 , RGD:4145623 , RGD:4145618 , RGD:1601020
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
G
Ccr4
C-C motif chemokine receptor 4
IEP
mRNA:increased expression:lung
RGD
PMID:15993846
RGD:2306304
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
G
Ccr5
C-C motif chemokine receptor 5
no_association
ISO
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) DNA:polymorphism, frameshift mutation: :-59029G>A, p.S185_T195del (rs333) (human) mRNA:increased expression:lung (mouse) protein:decreased expression:blood, lymphocyte (human)
RGD
PMID:20220260 PMID:23454776 PMID:16474097 PMID:18094012 PMID:15256090
RGD:4145638 , RGD:8551842 , RGD:4892093 , RGD:4892088 , RGD:4892108
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Ccr6
C-C motif chemokine receptor 6
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:19917684
RGD:8549811
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
G
Ccr7
C-C motif chemokine receptor 7
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:19917684
RGD:8549811
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
G
Ccr8
C-C motif chemokine receptor 8
IEP
mRNA:increased expression:lung
RGD
PMID:15993846
RGD:2306304
NCBI chr 8:119,826,332...119,828,292
Ensembl chr 8:119,826,568...119,827,629
G
Ccr9
C-C motif chemokine receptor 9
ISO
mRNA, protein:increased expression:blood, mature NK T cell
RGD
PMID:16210593
RGD:5130925
NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969
G
Cd14
CD14 molecule
severity no_association susceptibility
ISO
DNA:polymorphism:promoter:c. -260C>T (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:c. -159C>T (human) DNA:SNPs: : protein:increased expression:serum|DNA:polymorphism:promoter:c. -159C>T (human)
CTD RGD
PMID:17607003 PMID:15940135 PMID:15741437 PMID:19096003 PMID:16387800 PMID:18312481 More...
RGD:4144814 , RGD:4144815 , RGD:4144228 , RGD:4144813 , RGD:4144208
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
G
Cd1d1
CD1d1 molecule
susceptibility
ISO
associated with fasciolopsiasis
RGD
PMID:20304473
RGD:4140417
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
G
Cd209c
CD209c molecule
ISO
RGD
PMID:21471959
RGD:5131188
NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040
G
Cd209d
CD209d molecule
ISO
RGD
PMID:21471959
RGD:5131188
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
G
Cd274
CD274 molecule
treatment
ISO
associated with Chlamydia pneumonia
RGD
PMID:26378990
RGD:41412180
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
G
Cd28
Cd28 molecule
ISO
RGD
PMID:21356099
RGD:5131612
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
G
Cd40
CD40 molecule
treatment
ISO IDA IEP
RGD
PMID:19220210 PMID:20205594 PMID:20205594 PMID:20941750 PMID:19159017
RGD:5132272 , RGD:8547792 , RGD:8547792 , RGD:4892277 , RGD:4144188
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cd40lg
CD40 ligand
severity
ISO
RGD
PMID:9502776
RGD:11352238
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Cd80
Cd80 molecule
ISO
RGD
PMID:21352203 PMID:21051864 PMID:21440530
RGD:5132620 , RGD:5132621 , RGD:5132619
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
G
Cd86
CD86 molecule
treatment
ISO IEP
protein:increased expression:lung, alveolar macrophage (mouse) protein:increased expression:blood, B cell (human) protein:increased expression:lung, dendritic cell (rat) DNA:snp:exon:p.I179V rs2681417 (human)
RGD
PMID:20941750 PMID:25344652 PMID:9449507 PMID:20668438 PMID:9551945 PMID:17513529 More...
RGD:4892277 , RGD:11354965 , RGD:4892555 , RGD:4892199 , RGD:4892202 , RGD:4892280
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
G
Cdh1
cadherin 1
ISO
RGD
PMID:21540309
RGD:5132878
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
G
Cdhr3
cadherin-related family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241537
NCBI chr 6:49,641,833...49,702,016
Ensembl chr 6:49,641,813...49,702,017
G
Cftr
CF transmembrane conductance regulator
susceptibility
ISO
DNA:deletion: :F508del(human)
RGD
PMID:20298391
RGD:4140387
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Chat
choline O-acetyltransferase
IEP
Protein:decreased expression:lung epithelium
RGD
PMID:17328924
RGD:5686690
NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
G
Chi3l1
chitinase 3 like 1
susceptibility
ISO
human gene in mouse model CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 7 DNA:snp:5' utr:g.-131C>G rs4950928 (human) protein:increased secretion:serum (human)
CTD OMIM ClinVar RGD
PMID:18403759 PMID:19414556 PMID:19568425 PMID:18003958
RGD:4892663 , RGD:4892630 , RGD:4892632
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
G
Chia
chitinase, acidic
no_association
ISO
DNA:snps:5' utr, cds:multiple (human) DNA:snps:multiple (human) mRNA:increased expression:lung, epithelial cell (human) mRNA:increased expression:lung (mouse)
RGD
PMID:16179638 PMID:20226308 PMID:19548841 PMID:15192232 PMID:14734765
RGD:4996473 , RGD:5024922 , RGD:5024921 , RGD:4985150 , RGD:4990463
NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533
G
Chml
CHM like Rab escort protein
ISO
RGD
PMID:18343558
RGD:5133238
NCBI chr13:87,609,647...87,619,868
Ensembl chr13:87,589,298...87,619,862
G
Chrm1
cholinergic receptor, muscarinic 1
ISO
RGD
PMID:16931638
RGD:5133416
NCBI chr 1:205,567,226...205,583,001
Ensembl chr 1:205,567,220...205,582,356
G
Chrm2
cholinergic receptor, muscarinic 2
ISO
DNA:SNP: :rs6962027 (human)
RGD
PMID:19308904
RGD:5509586
NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
G
Chrm3
cholinergic receptor, muscarinic 3
severity
ISO
RGD
PMID:20394512 PMID:18348887
RGD:5133437 , RGD:5133438
NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
G
Chuk
component of inhibitor of nuclear factor kappa B kinase complex
ISO
RGD
PMID:18643924
RGD:5133701
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
G
Clca1
chloride channel accessory 1
susceptibility
ISO
DNA:SNPs (human)
RGD
PMID:11296262 PMID:17898169 PMID:15318163
RGD:4145661 , RGD:4145653 , RGD:4145656
NCBI chr 2:233,938,677...233,964,369
Ensembl chr 2:233,938,677...233,964,369
G
Cldn18
claudin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27215490
NCBI chr 8:100,246,499...100,265,797
Ensembl chr 8:100,247,633...100,273,351
G
Cma1
chymase 1
severity susceptibility no_association
ISO
protein:increased expression:lung epithelium, mast cell (human) DNA:duplications:3' utr:g.*254-?dupTG, dupGA (human) DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human)
RGD
PMID:20813890 PMID:15924217 PMID:15248847
RGD:5128804 , RGD:1625396 , RGD:1625397
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
G
Crhr1
corticotropin releasing hormone receptor 1
ISO
DNA:SNP: :RS242941 (human) DNA:SNPs: :rs1876828, rs242939, rs242941 (human)
RGD
PMID:19663668 PMID:16113459
RGD:5147485 , RGD:5147488
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
G
Crhr2
corticotropin releasing hormone receptor 2
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:18408560
RGD:5130938
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
G
Crp
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:21140796
RGD:5131288
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Csf2
colony stimulating factor 2
severity
ISO
protein:increased expression:lung protein:increased expression:sputum
RGD
PMID:20405019 PMID:9717963 PMID:19213775
RGD:5131473 , RGD:10449521 , RGD:5131476
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Csf2rb
colony stimulating factor 2 receptor subunit beta
IMP
RGD
PMID:17145927
RGD:1601020
NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157
G
Csf3
colony stimulating factor 3
ISO
protein:increased expression:lung
RGD
PMID:21396376 PMID:20405019
RGD:5133731 , RGD:5131473
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
severity treatment no_association
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) DNA:SNP: :rs3087243 (human) DNA:polymorphism:promoter:-318C>T (human) DNA:SNPs:promoter, exon:-1147C>T, -318C>T, 49A>G (human) DNA:polymorphisms:promoter, exon:-318C>T 49A>G (human)
CTD RGD
PMID:28807506 PMID:15871446 PMID:11726402 PMID:17237396 PMID:15316504 PMID:19895365 PMID:16677453 PMID:12114354 PMID:18699801 PMID:16926542 PMID:16708626 PMID:17469155 PMID:12956753 More...
RGD:4891529 , RGD:11344922 , RGD:4891514 , RGD:4891519 , RGD:4891526 , RGD:4891517 , RGD:4891522 , RGD:4891510 , RGD:4891528 , RGD:4891516 , RGD:4891527 , RGD:4891521
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Ctnna3
catenin alpha 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19187332
NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978
G
Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:plasma
RGD
PMID:14657873
RGD:4891906
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
G
Cx3cr1
C-X3-C motif chemokine receptor 1
no_association
ISO
DNA:SNPs: :p.V249I, rs2669849 (human) DNA:polymorphisms: :p.V249I, p.T280M (human)
RGD
PMID:21037587 PMID:17082760 PMID:17505143
RGD:4891882 , RGD:4891895 , RGD:4891904
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
G
Cxcl1
C-X-C motif chemokine ligand 1
severity
ISO
RGD
PMID:20371397
RGD:5134983
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:decreased expression:plasma
RGD
PMID:17302903 PMID:16602032 PMID:11994485
RGD:5135439 , RGD:5135457 , RGD:5135452
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cxcl14
C-X-C motif chemokine ligand 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21150878
NCBI chr17:8,317,930...8,325,956
Ensembl chr17:8,317,933...8,324,839
G
Cxcl2
C-X-C motif chemokine ligand 2
ISO
mRNA:increased expression:lung
RGD
PMID:20045013
RGD:5129686
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
G
Cxcl3
C-X-C motif chemokine ligand 3
severity
ISO
RGD
PMID:20371397
RGD:5134983
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
G
Cxcl6
C-X-C motif chemokine ligand 6
ISO
mRNA:increased expression:bronchus epithelium
RGD
PMID:17234659 PMID:9620668
RGD:5135243 , RGD:5135265
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:15210824
RGD:5135447
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
G
Cxcr3
C-X-C motif chemokine receptor 3
susceptibility severity
ISO
DNA:SNP:intron:IVS1+234G>A (human) protein:decreased expression:respiratory system fluid/secretion, T cell
RGD
PMID:18094012 PMID:16043121 PMID:16548899 PMID:17641057
RGD:4892088 , RGD:5143934 , RGD:5143932 , RGD:5135484
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
G
Cyba
cytochrome b-245 alpha chain
susceptibility
ISO
DNA:polymorphism: :-930A>G (human) DNA:SNPs: :-930A>G, 242C>T, 640A>G (human)
RGD
PMID:19459419 PMID:18716406
RGD:4311041 , RGD:4772770
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
mRNA, protein:increased expression, decreased activity:lung
RGD
PMID:12415424
RGD:4892074
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
G
Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
DNA:polymorphism: :1934G>A (human)
RGD
PMID:19575027
RGD:5143944
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
mRNA:decreased expression:leukocyte CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28807506 PMID:20514434 PMID:17081494
RGD:4892076 , RGD:4892220
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
G
Cysltr1
cysteinyl leukotriene receptor 1
no_association severity
ISO
DNA:SNPs:promoter, exon:multiple (human) DNA:SNPs:promoter:-634C>T, -475A>C, -336A>G (human) DNA:SNP: :927T>C (human) mRNA, protein:increased expression:respiratory system mucosa
RGD
PMID:16771777 PMID:16630147 PMID:16776674 PMID:8087328 PMID:16387808 PMID:11591188 PMID:17153879 PMID:17689528 PMID:16123393 More...
RGD:4889116 , RGD:4784257 , RGD:4782072 , RGD:4888514 , RGD:4843543 , RGD:4848936 , RGD:4781742 , RGD:4781449 , RGD:4847129
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
G
Cysltr2
cysteinyl leukotriene receptor 2
ISO
DNA:polymorphism: :601A>G (human) DNA:polymorphism: :-1220A>C (human)
RGD
PMID:15475736 PMID:15454733
RGD:5144002 , RGD:5144003
NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
G
Dcn
decorin
IEP
RGD
PMID:16387756
RGD:2311423
NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
G
Defb1
defensin beta 1
susceptibility
ISO
DNA:SNP: :-1816 T>C (human) DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human)
RGD
PMID:15696078 PMID:16435024
RGD:4892263 , RGD:4892254
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
G
Dnah5
dynein, axonemal, heavy chain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
G
Dnmt1
DNA methyltransferase 1
ISO
DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23423710 PMID:23196709
RGD:9588646
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
G
Dpp10
dipeptidyl peptidase like 10
ISO IEP
DNA:SNPs (human) DNA:SNP: :rs10208402 (human) DNA:SNP:exon (human) protein:increased expression:bronchus
RGD GAD
PMID:21103062 PMID:15118671 PMID:19672052 PMID:14566338 PMID:17967935
RGD:4889866 , RGD:1331525 , RGD:4892275 , RGD:4892276 , RGD:4892278
NCBI chr13:34,584,420...36,269,292
Ensembl chr13:34,595,868...36,269,292
G
Ebi3
Epstein-Barr virus induced 3
ISO
RGD
PMID:21255010
RGD:5128488
NCBI chr 9:774,252...787,544
Ensembl chr 9:783,617...787,544
G
Edn1
endothelin 1
ISO
Severe Persistent Allergic Asthma; protein:increased secretion:lung (human) CTD Direct Evidence: marker/mechanism DNA:transition:intron:g.4124T>C (human)
CTD RGD
PMID:16981460 PMID:20588001 PMID:11668616
RGD:4144895 , RGD:4144869
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Ednra
endothelin receptor type A
ISO
RGD
PMID:17448648 PMID:18632188
RGD:4892322 , RGD:4892288
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
G
Ednrb
endothelin receptor type B
IEP ISO
mRNA:increased expression:bronchus, smooth muscle cell DNA:polymorphism (human)
RGD
PMID:15245576 PMID:17470272 PMID:18632188
RGD:4892324 , RGD:4892321 , RGD:4892288
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
G
Egfr
epidermal growth factor receptor
severity
IEP ISO
protein:increased expression:lung epithelium (rat) protein:increased expression:bronchial epithelium (human) protein:increased expression:lung epithelium (mouse)
RGD
PMID:19954006 PMID:12580917 PMID:21224214 PMID:21072743
RGD:5131870 , RGD:5131468 , RGD:5131633 , RGD:5131642
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
G
Egr1
early growth response 1
ISO
mRNA:increased expression:bronchoalveolar lavage cell (human) DNA:snp:5' utr:g.-4071A>G rs7729723 (human)
RGD
PMID:11254538 PMID:18774390 PMID:18507785
RGD:5131985 , RGD:5130915 , RGD:5131993
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
G
Elp1
elongator acetyltransferase complex subunit 1
no_association
ISO
RGD
PMID:12774215 PMID:11281413
RGD:5129158 , RGD:5129157
NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
G
Ephx1
epoxide hydrolase 1
susceptibility
ISO
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
RGD
PMID:17711870
RGD:4889407
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
G
Epx
eosinophil peroxidase
severity disease_progression
ISO
protein:increased activity:sputum,nasal,pharyngeal mucosa
RGD
PMID:26645423 PMID:12199967 PMID:20813885
RGD:11574908 , RGD:13506892 , RGD:13506891
NCBI chr10:72,666,865...72,677,952
Ensembl chr10:72,666,865...72,677,952
G
Esr2
estrogen receptor 2
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:18375789
RGD:8694127
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
G
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 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
F2rl1
F2R like trypsin receptor 1
ISO
RGD
PMID:19864598
RGD:4892589
NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226
G
F7
coagulation factor VII
treatment
IDA
RGD
PMID:24523826
RGD:11040539
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
G
Fas
Fas cell surface death receptor
IEP
mRNA:increased expression:eosinophil
RGD
PMID:16337971
RGD:1600350
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Fcer1a
Fc epsilon receptor Ia
severity
ISO
Asthma symptoms persistent despite steroids in humans Fatal asthma subjects
RGD
PMID:20937062 PMID:21388666
RGD:5128717 , RGD:5128711
NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351
G
Fcgr2a
Fc gamma receptor 2A
ISO
protein:increased expression:alveolar macrophage
RGD
PMID:9117017
RGD:5147982
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
G
Fcgr2b
Fc gamma receptor 2B
ISO
RGD
PMID:20179765
RGD:11344929
NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
G
Fcgr3a
Fc gamma receptor 3A
susceptibility
ISO
DNA:polymorphism:exon:p.F158V(rs396991)(human)
RGD
PMID:18199088
RGD:5508449
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
G
Fga
fibrinogen alpha chain
treatment
IDA
RGD
PMID:24523826
RGD:11040539
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
G
Fkbp5
FKBP prolyl isomerase 5
ISO
ClinVar Annotator: match by term: Asthma
ClinVar
NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674
G
Foxp3
forkhead box P3
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27965764 PMID:29317916 PMID:28944907 PMID:27633092
RGD:38549365 , RGD:38548920
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Gata3
GATA binding protein 3
ISO IEP
RGD
PMID:9949310 PMID:18186587
RGD:5128802 , RGD:5128803
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
G
Gc
GC, vitamin D binding protein
ISO
protein, mRNA:increased expression:bronchoalveolar lavage fluid:
RGD
PMID:21169467 PMID:21169467
RGD:5509920 , RGD:5509920
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
G
Gsta1
glutathione S-transferase alpha 1
susceptibility
ISO
DNA:polymorphism:promoter: -69C>T (human)
RGD
PMID:20374258
RGD:5490988
NCBI chr 9:23,703,476...23,720,121
Ensembl chr 9:23,703,477...23,720,121
G
Gstm1
glutathione S-transferase mu 1
resistance susceptibility
ISO
DNA:deletion: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16870661 PMID:18988661 PMID:17651144 PMID:21051083 PMID:11075422
RGD:4142509 , RGD:5490962 , RGD:4140921
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstm3
glutathione S-transferase mu 3
ISO
DNA:polymorphism
RGD
PMID:17550934 PMID:11470996
RGD:5135038 , RGD:5135039
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
G
Gstm5
glutathione S-transferase, mu 5
ISO
DNA:polymorphism
RGD
PMID:11470996 PMID:17550934
RGD:5135038 RGD:5135039
NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
G
Gsto2
glutathione S-transferase omega 2
susceptibility
ISO
DNA:polymorphism:exon:p. N142D (human)
RGD
PMID:20374258
RGD:5490988
NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866
G
Gstp1
glutathione S-transferase pi 1
severity susceptibility disease_progression no_association
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:exons:p.I105V (rs1695), A114V (rs1138272) (human) DNA:SNPs:intron,exon:(rs749174), (rs1138272)(human) DNA:SNPs: :p.I105V, p.A114V (human) DNA:polymorphism:exon:p.I105V (human) DNA:SNP: :p.A114V (human)
CTD RGD
PMID:11994713 PMID:16870661 PMID:18988661 PMID:24117884 PMID:29411558 PMID:10806136 PMID:15693909 PMID:20210814 PMID:20858151 PMID:18057098 PMID:16176403 PMID:18787219 PMID:18709160 More...
RGD:4142526 , RGD:5490999 , RGD:5490991 , RGD:5490985 , RGD:4140951 , RGD:4142519 , RGD:4140946 , RGD:4140947
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:15300848 PMID:21051083 PMID:11075422
RGD:4142539 , RGD:5490962 , RGD:4140921
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Havcr1
hepatitis A virus cellular receptor 1
ISO
RGD
PMID:20628202
RGD:5128851
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
G
Havcr2
hepatitis A virus cellular receptor 2
ISO
RGD
PMID:17517968
RGD:5135525
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
G
Hdac2
histone deacetylase 2
ISO
mRNA:decreased expression:macrophage:
RGD
PMID:20538962
RGD:9590321
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
G
Hdc
histidine decarboxylase
ISO
associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human)
RGD
PMID:20608921
RGD:5128884
NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
G
Hif1a
hypoxia inducible factor 1 subunit alpha
treatment
ISO
RGD
PMID:18160846
RGD:10402541
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
RGD
PMID:20084838
RGD:5508450
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
G
Hmox1
heme oxygenase 1
severity
ISO
CTD Direct Evidence: marker/mechanism mRNA;protein:increased expression:Leukocytes, Mononuclear
CTD RGD
PMID:18048809 PMID:20596599 PMID:16196283
RGD:4145403 , RGD:4145408
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Hnmt
histamine N-methyltransferase
no_association susceptibility
ISO
ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:10752634 PMID:10803682 PMID:16205835 PMID:17651147 PMID:25741868 PMID:15693910 PMID:21040557 PMID:17651147 PMID:10803682 PMID:16205835 More...
RGD:5128888 , RGD:5128883 , RGD:5128885 , RGD:5128881 , RGD:5128887
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
G
Hp
haptoglobin
ISO
RGD
PMID:21471098 PMID:21169467
RGD:5144151 , RGD:5509920
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11932298
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
G
Htr2a
5-hydroxytryptamine receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25322896
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
G
Icam1
intercellular adhesion molecule 1
ISO IEP
mRNA:increased expression:aorta (mouse) CTD Direct Evidence: marker/mechanism protein:increased secretion:lung (human) protein:increased expression:lung, serum (rat)
CTD RGD
PMID:17014439 PMID:25003170 PMID:20400685 PMID:20205697 PMID:20953388
RGD:4145444 , RGD:4145509 , RGD:4145331
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Ifng
interferon gamma
treatment resistance
ISO
protein:increased expression:sputum
RGD GAD
PMID:20817868 PMID:12396623 PMID:15118671 PMID:19542437 PMID:20953328
RGD:4145651 , RGD:10755706 , RGD:1331525 , RGD:5128479 , RGD:4145525
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Ifngr1
interferon gamma receptor 1
ISO
DNA: SNP: Leu467Pro
RGD
PMID:21737883 PMID:12851715
RGD:6480255 , RGD:6480431
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
G
Ifnl1
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:25784275 PMID:22135341
RGD:126848770 , RGD:126848775
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
G
Ifnl3
interferon, lambda 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22295096
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
G
Ikzf3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25256354
NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591
G
Il10
interleukin 10
treatment susceptibility
ISO IEP IGI
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :-627C>A (human) protein:decreased expression:plasma
CTD RGD
PMID:29317916 PMID:20237464 PMID:21998459 PMID:12938145 PMID:20121766 PMID:20644177 PMID:20230687 PMID:20560982 More...
RGD:4140471 , RGD:11046261 , RGD:4143221 , RGD:4140451 , RGD:4140459 , RGD:4140421 , RGD:5131623
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il12a
interleukin 12A
ISO
RGD
PMID:17056578 PMID:17548618
RGD:4438438 , RGD:4373570
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
G
Il12b
interleukin 12B
severity susceptibility
ISO
DNA:polymorphisms:introns: ClinVar Annotator: match by term: Asthma, susceptibility to DNA:polymorphisms:promoter, 3'utr: DNA:polymorphism:promoter
ClinVar RGD
PMID:15322986 PMID:15322986 PMID:16210052 PMID:12241719
RGD:1600043 , RGD:4145438 , RGD:4145428
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
G
Il13
interleukin 13
susceptibility severity no_association
ISO IMP IDA IEP
ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism associated with Dermatitis, Atopic;DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) DNA:polymorphism: :-1512A>C, -1112C>T, 2044G>A (human) mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid protein:increased expression:serum DNA:polymorphism:cds:p.R130Q (human) DNA:polymorphisms:promoters,exon4: rs1881457, rs1800925, rs20541 (human) DNA:polymorphism: :p. R110Q (human) DNA:SNP: :c. -646A>G (human) DNA:polymorphism: :c. 1923C>T (human) protein:increased expression:sputum DNA:polymorphism:promoter:c. -1055C>T (human) DNA:polymorphisms: :rs20541, rs1295685(human) DNA:polymorphism:3'utr:c.4738G>A (human) DNA:polymorphism: :c.-1055C>T (human) DNA:polymorphism: :c. 2044G>A (human)
ClinVar OMIM CTD RGD
PMID:10699178 PMID:11588017 PMID:11709756 PMID:12847555 PMID:12928861 PMID:15356556 PMID:15483090 PMID:15711639 PMID:15879126 PMID:22867017 PMID:25741868 PMID:16120094 PMID:23317483 PMID:17006604 PMID:12604708 PMID:20819635 PMID:18222984 PMID:16393274 PMID:11758895 PMID:18258919 PMID:11678850 PMID:19796199 PMID:12091879 PMID:15315330 PMID:17303794 PMID:19575932 PMID:18328894 PMID:16024972 PMID:20484924 PMID:11588017 PMID:20198887 PMID:18341619 More...
RGD:4206706 , RGD:8549509 , RGD:4892639 , RGD:2301686 , RGD:4145453 , RGD:2307110 , RGD:4145508 , RGD:4763153 , RGD:4145639 , RGD:4763761 , RGD:4145601 , RGD:4145664 , RGD:4321828 , RGD:4146241 , RGD:4145775 , RGD:4145777 , RGD:4220633 , RGD:4145534 , RGD:4765128 , RGD:4145593 , RGD:4145776
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il13ra1
interleukin 13 receptor subunit alpha 1
no_association
ISO
mRNA:increased expression:bronchus DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human) DNA:polymorphism: :1398A>G (human) DNA:polymorphism: :1050C>T (human)
RGD
PMID:20383033 PMID:17392323 PMID:18480254 PMID:17006604 PMID:10686479 PMID:11714828 More...
RGD:4892646 , RGD:4892650 , RGD:4892647 , RGD:4892639 , RGD:4892655 , RGD:4892654
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
G
Il13ra2
interleukin 13 receptor subunit alpha 2
ISO
mRNA:increased expression:bronchus protein:increased expression:serum
RGD
PMID:20383033 PMID:21462799 PMID:17885690
RGD:4892646 , RGD:8549521 , RGD:4892649
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
G
Il15
interleukin 15
no_association
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:19133918 PMID:16629787 PMID:11160248 PMID:15843549 PMID:15131572
RGD:5000760 , RGD:4984421 , RGD:4990462 , RGD:5000757 , RGD:5000758
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
G
Il16
interleukin 16
no_association severity
ISO
DNA:SNP:promoter:-295T>C (human) associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion protein:increased expression:serum
RGD
PMID:10585533 PMID:16387589 PMID:15784111 PMID:16734115 PMID:12872394
RGD:5024937 , RGD:5024934 , RGD:5024935 , RGD:5024928 , RGD:5024930
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
G
Il17a
interleukin 17A
susceptibility
IEP ISO
mRNA,protein:increased expression:Leukocytes, Mononuclear, lung, serum protein:increased expression:sputum protein:increased expression:alveolar macrophage DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:18060619 PMID:20351038 PMID:15730730 PMID:18941201 PMID:20437253
RGD:4839043 , RGD:4888527 , RGD:4889114 , RGD:4889152 , RGD:4889139
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il17rb
interleukin 17 receptor B
ISO
associated with Picornaviridae Infections
RGD
PMID:25273095
RGD:39128256
NCBI chr16:5,180,431...5,194,125
Ensembl chr16:5,180,432...5,194,125
G
Il18
interleukin 18
severity susceptibility disease_progression
ISO
DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human) DNA:SNP:promoter:c.and -137G>C (rs187238)(human) protein:increased expression:serum DNA:SNP:promoter: c.-380C>G (rs5744247)(human) DNA:polymorphism: :c. -105A>C (human)
RGD
PMID:17767553 PMID:16433859 PMID:18826499 PMID:11174201 PMID:20497957 PMID:19745201 PMID:18200581 More...
RGD:4889585 , RGD:4889923 , RGD:4889908 , RGD:4889863 , RGD:4889898 , RGD:4889900 , RGD:4889910
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il18r1
interleukin 18 receptor 1
ISO
DNA:SNP: :rs3771166 (human) DNA:SNPs: :multiple (human)
RGD
PMID:19910030 PMID:20860503 PMID:18382474 PMID:11972614 PMID:18774397
RGD:5024945 , RGD:5024942 , RGD:5024947 , RGD:5024948 , RGD:5024946
NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715
G
Il19
interleukin 19
ISO
protein:increased expression:serum
RGD
PMID:15557163
RGD:5037236
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
G
Il1a
interleukin 1 alpha
ISO
DNA:polymorphisms: :
RGD
PMID:18763028
RGD:4142802
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1b
interleukin 1 beta
susceptibility
ISO
DNA:polymorphism: :-511C>T (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:neutrophil
CTD RGD
PMID:9176529 PMID:18926055 PMID:19842845 PMID:19684087
RGD:4142864 , RGD:4142830 , RGD:4142836
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rl1
interleukin 1 receptor-like 1
susceptibility severity
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:SNP: :rs1420101 (human) DNA:SNPs:intron:rs1420089, rs1861245,rs1946131 (human) DNA:SNP: :rs10197862 (human) DNA:SNP: :rs1041973 (human)
CTD RGD
PMID:19198610 PMID:21150878 PMID:21804549 PMID:24241537 PMID:27472835 PMID:17623648 PMID:17407196 PMID:19179489 PMID:19198610 PMID:19852851 PMID:21150878 PMID:21281963 PMID:11463601 More...
RGD:5144235 , RGD:5144245 , RGD:5144244 , RGD:5144243 , RGD:5144242 , RGD:5144240 , RGD:5144239 , RGD:5144237
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Il1rn
interleukin 1 receptor antagonist
susceptibility severity
ISO
DNA:SNP: :rs2234678 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) DNA:SNPs: :rs447713, rs3087271 (human) protein:increased expression:plasma DNA, protein:repeat, decreased expression (human) DNA:polymorphism:intron (human)
CTD RGD
PMID:9176529 PMID:17107994 PMID:15020290 PMID:16409203 PMID:16724092 PMID:10843772 PMID:11027520 PMID:18926055 PMID:18763028 More...
RGD:4143208 , RGD:4143216 , RGD:4143163 , RGD:4143209 , RGD:4143225 , RGD:4143224 , RGD:4142864 , RGD:4142802
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il2
interleukin 2
susceptibility
ISO
DNA:SNP:promoter:rs2069762(human)
RGD
PMID:20926789 PMID:16333313
RGD:4889118 , RGD:8663473
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il21
interleukin 21
ISO
DNA:SNP:exon:5250C>T (human)
RGD
PMID:18802358
RGD:5147396
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
G
Il22
interleukin 22
treatment severity
ISO IMP
mRNA:increased expression:blood, mononuclear cell protein:increased expression:serum
RGD
PMID:21789181 PMID:21998459 PMID:21535180 PMID:21297073
RGD:5147401 , RGD:11046261 , RGD:5147409 , RGD:5147403
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
G
Il23r
interleukin 23 receptor
ISO
RGD
PMID:19935773
RGD:5037240
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
G
Il25
interleukin 25
ISO
mRNA, protein:increased expression:lung
RGD
PMID:25273095
RGD:39128256
NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
G
Il27
interleukin 27
susceptibility treatment
ISO
DNA:SNP: :g.-964A>G (human) protein:increased expression:sputum
RGD
PMID:17318299 PMID:26595888 PMID:17878337 PMID:19542437 PMID:20817868
RGD:5128485 , RGD:11076728 , RGD:5128491 , RGD:5128479 , RGD:4145651
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
Il27ra
interleukin 27 receptor subunit alpha
ISO
RGD
PMID:16081811
RGD:5128496
NCBI chr19:24,109,963...24,121,977
Ensembl chr19:24,109,972...24,121,938
G
Il2ra
interleukin 2 receptor subunit alpha
IDA ISO
RGD
PMID:17351063 PMID:20525707 PMID:21377197
RGD:2325990 , RGD:5147445 , RGD:5147437
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
G
Il2rb
interleukin 2 receptor subunit beta
ISO
DNA:SNP: :rs2284033 (human)
RGD
PMID:20860503 PMID:18641329
RGD:5024942 , RGD:5147447
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
G
Il3
interleukin 3
susceptibility
ISO
DNA:SNP: :rs40401(human) DNA:polymorphism:cds:+79T>C(S27P)(human)
RGD
PMID:24684517 PMID:15372320
RGD:13506914 , RGD:13506916
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
G
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:27472835 PMID:29067999 PMID:28947081 PMID:25746970 More...
RGD:39939002 , RGD:39938968
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Il4
interleukin 4
treatment no_association
ISO IEP
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism mRNA, protein:increase expression:leukocyte, serum protein:increased expression:lung DNA:SNP: :589C>T (human) protein:increased expression:respiratory system fluid/secretion mRNA:increased expression:lung, spleen
CTD RGD
PMID:18357729 PMID:21103062 PMID:24946644 PMID:24450480 PMID:18211752 PMID:20524005 PMID:21354484 PMID:21364926 PMID:21375458 More...
RGD:4889866 , RGD:10402799 , RGD:10402791 , RGD:2317290 , RGD:5128560 , RGD:5128502 , RGD:5128500 , RGD:5128557
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Il4r
interleukin 4 receptor
susceptibility severity disease_progression
ISO ISS
DNA:mutation:cds:p.Q576R (mouse) OMIM:600807 DNA:SNPs: :multiple DNA:polymorphism:cds:p.I50V (human) DNA:SNPs:cds:p. I75V, Q576R (human) DNA:polymorphism::-1902G/A (human) protein:increased secretion:plasma|DNA:polymorphism:promoter:c.-3223C>T (human) DNA:polymorphism:cds:p.Q576R (human) DNA:SNPs:cds:p.E375A, Q551R (human) DNA:polymorphism:cds:p. S478P (human) DNA:polymorphism:cds:p.Q551R (human)
MouseDO RGD
PMID:19770271 PMID:17823973 PMID:18425216 PMID:12133990 PMID:20868478 PMID:11398072 PMID:15479272 PMID:12940513 PMID:17170387 PMID:11709756 PMID:20605987 PMID:20953944 PMID:16917945 PMID:17586032 More...
RGD:4890003 , RGD:4890347 , RGD:4890346 , RGD:4890404 , RGD:4890387 , RGD:4890406 , RGD:4890351 , RGD:4890402 , RGD:4890349 , RGD:4890024 , RGD:5128553 , RGD:5128514 , RGD:4890352 , RGD:4890348
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
G
Il5
interleukin 5
treatment disease_progression
IDA ISO IEP IMP
CTD Direct Evidence: marker/mechanism protein:increased expression:lungs, respiratory system fluid/secretion protein: increased levels: sputum protein:increased expression:respiratory system fluid/secretion DNA:polymorphism:promoter:-703C>T (human)
CTD RGD
PMID:7540862 PMID:23266719 PMID:17074272 PMID:25008888 PMID:11159041 PMID:22085848 PMID:22186238 PMID:15626484 PMID:15502111 PMID:9182686 PMID:18629290 PMID:9493449 PMID:19947994 More...
RGD:4145461 , RGD:11354973 , RGD:5687189 , RGD:5687144 , RGD:5687140 , RGD:4890947 , RGD:4890948 , RGD:4890963 , RGD:4890940 , RGD:4890962 , RGD:4890938
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
G
Il5ra
interleukin 5 receptor subunit alpha
ISO
DNA:SNP: :c.25091G>A (human) DNA:SNPs (human)
RGD
PMID:20513521 PMID:20592918 PMID:17276963 PMID:10848907 PMID:10224351 PMID:16217591 More...
RGD:5128625 , RGD:5128614 , RGD:5128617 , RGD:5128627 , RGD:5128623 , RGD:5128626
NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544
G
Il6
interleukin 6
ISO IEP
CTD Direct Evidence: marker/mechanism associated with Hypersensitivity;protein:increased expression:sputum protein:increased expression:lung
CTD RGD
PMID:29902480 PMID:21115736 PMID:20840469 PMID:20816188 PMID:20658762
RGD:5128630 , RGD:4143265 , RGD:4143266 , RGD:4143271
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Il6r
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29902480 PMID:17496315 PMID:21115736
RGD:5128662 , RGD:5128630
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
G
Il9
interleukin 9
ISO
protein:increased expression:respiratory system fluid/secretion protein:increased expression:sputum, macrophage, cytoplasm
RGD
PMID:12153980 PMID:17446528 PMID:15531759 PMID:15303135 PMID:21356110
RGD:5128700 , RGD:5128686 , RGD:5128690 , RGD:5128691 , RGD:5128707
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
G
Il9r
interleukin 9 receptor
ISO
RGD
PMID:10629460
RGD:5128704
NCBI chr10:15,431,706...15,444,144
Ensembl chr10:15,431,706...15,441,990
G
Irak3
interleukin-1 receptor-associated kinase 3
susceptibility
ISO
ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:17503328
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
G
Irf1
interferon regulatory factor 1
no_association susceptibility
ISO
DNA:polymorphisms:promoter, cds:-300G>T, 4396A>G, 6355G>A (human) protein:increased expression:respiratory tract epithelium DNA:repeat:intron (human)
RGD
PMID:11069564 PMID:10225979 PMID:16961714
RGD:5128726 , RGD:5128723 , RGD:5128724
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
G
Irf3
interferon regulatory factor 3
ISO
RGD
PMID:20673978
RGD:5128793
NCBI chr 1:95,479,966...95,484,926
Ensembl chr 1:95,479,821...95,484,935
G
Itgb3
integrin subunit beta 3
ISO
DNA:SNPs: :
RGD
PMID:17556058
RGD:5037230
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
G
Itgb6
integrin subunit beta 6
ISS
OMIM:600807
MouseDO
NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
G
Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
IDA
RGD
PMID:21777465
RGD:5147661
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
G
Kdr
kinase insert domain receptor
ISO
associated with Rhinitis,Allergic,Seasonal;protein:increased expression:nasal cavity of mucosa:
RGD
PMID:20921519 PMID:17651148
RGD:5684385 , RGD:8551771
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Kif3a
kinesin family member 3a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr10:37,725,930...37,761,183
Ensembl chr10:37,725,970...37,759,191
G
Krt19
keratin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15478392
NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799
G
Lep
leptin
ISO
protein:increased expression:plasma
RGD
PMID:19705789
RGD:5128781
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lgals3
galectin 3
treatment
ISO
RGD
PMID:16424226
RGD:9685213
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
G
Lta
lymphotoxin alpha
susceptibility no_association
ISO
DNA:polymorphisms:promoter DNA:polymorphism:intron
RGD
PMID:15969671 PMID:18947013 PMID:12530118 PMID:17536219
RGD:4143373 , RGD:4143370 , RGD:4143254 , RGD:4143371
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
G
Lta4h
leukotriene A4 hydrolase
IEP
mRNA:increased expression:lung, cerebral cortex (rat)
RGD
PMID:15715933
RGD:2316607
NCBI chr 7:27,969,796...28,001,600
Ensembl chr 7:27,969,789...28,001,600
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with Bronchiolitis;DNA:polymorphism:exon: DNA:SNP:cds:p.G54D(human)
RGD
PMID:22512728 PMID:22674410
RGD:8693709 , RGD:12910828
NCBI chr 1:228,016,439...228,024,736
G
Mefv
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:mutations:exons
RGD
PMID:18219832
RGD:5129186
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
G
Mif
macrophage migration inhibitory factor
severity
ISO IDA
protein:increased expression:bronchoalveolar lavage fluid DNA:SNP:promoter:rs755622(human) DNA:repeats:promoter
RGD
PMID:9637721 PMID:17373669 PMID:19317738 PMID:16186482 PMID:16455830
RGD:4891043 , RGD:4891035 , RGD:4891059 , RGD:4891052 , RGD:1641985
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
G
Mmp1
matrix metallopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24469321
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Mmp10
matrix metallopeptidase 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16926187
NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
G
Mmp9
matrix metallopeptidase 9
ISO IEP
protein:increased expression:serum CTD Direct Evidence: marker/mechanism protein:increased expression:lung DNA:SNP: : rs2664538(human) mRNA, protein:increased expression:lung
CTD RGD
PMID:11742282 PMID:15131573 PMID:21439806 PMID:19361849 PMID:20181264 PMID:16191269 PMID:19940022 More...
RGD:5129204 , RGD:5129687 , RGD:5130859 , RGD:2325953 , RGD:5129522
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Mpo
myeloperoxidase
susceptibility
ISO
DNA:polymorphism: :−463G > A (human) protein:increased expression:serum
RGD
PMID:19544176 PMID:10731862
RGD:5130989 , RGD:5130994
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
G
Ms4a2
membrane spanning 4-domains A2
susceptibility
ISO
DNA:SNPs:multiple:, rs573790, rs2583476, rs569108 DNA:SNPs: : rs556917, rs502581, rs502419 (human) DNA:SNP: : -109C>T (human) Atopy and bronchial hyperresponsiveness, OMIM:147050
RGD
PMID:19218813 PMID:21320344 PMID:19862939 PMID:8817330
RGD:5131151 , RGD:5131149 , RGD:5131092 , RGD:1599903
NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
G
Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:20456312
RGD:4891145
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:11802251
RGD:5131281
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
associated with hypersensitivity
RGD
PMID:11062147 PMID:14594655
RGD:5131178 , RGD:7349354
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
treatment
IEP ISO
mRNA,protein:increased expression:lung mRNA, protein:increased expression:lung
RGD
PMID:17590487 PMID:21549818 PMID:21780541 PMID:14594655 PMID:17698377
RGD:2324962 , RGD:7364729 , RGD:7349407 , RGD:7349354 , RGD:5131204
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
G
Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
protein:altered expression:sputum
RGD
PMID:11802783 PMID:11587997
RGD:5131252 , RGD:7364763
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
G
Myb
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19198610
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
G
Myd88
MYD88, innate immune signal transduction adaptor
ameliorates
ISO
RGD
PMID:26882889
RGD:11531666
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
G
Mylk
myosin light chain kinase
ISO
RGD
PMID:17472811
RGD:4891492
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
G
Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphisms: : Asthma, Aspirin-Induced; DNA:polymorphism: :
RGD
PMID:16924569 PMID:20602614
RGD:5131606 , RGD:5131600
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
G
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 chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
G
Ngf
nerve growth factor
severity
ISO
protein:increased expression:blood, eosinophil protein:increased expression:lung, serum
RGD
PMID:12752594 PMID:17164945 PMID:17497413 PMID:11737043
RGD:4891122 , RGD:4891108 , RGD:4891068 , RGD:4891123
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
G
Ngfr
nerve growth factor receptor
ISO
RGD
PMID:16603479 PMID:12540484
RGD:5144070 , RGD:5144072
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
G
Nod1
nucleotide-binding oligomerization domain containing 1
susceptibility
ISO
DNA:SNP: :rs2075817 (human) DNA:insertion:cds:
RGD
PMID:16918516 PMID:15718249
RGD:5131519 , RGD:5131518
NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
G
Nod2
nucleotide-binding oligomerization domain containing 2
susceptibility
ISO
DNA:polymorphisms:intron, exon/3'UTR (rs1077861, rs3135500) (human)
RGD
PMID:16008671 PMID:21051079
RGD:5131477 , RGD:5508757
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Nos1
nitric oxide synthase 1
susceptibility
ISO
DNA:repeats:exon DNA:repeats:intron DNA:repeats: :
RGD
PMID:10833424 PMID:14767694 PMID:10673365 PMID:20609134
RGD:5132860 , RGD:5132615 , RGD:5132869 , RGD:5132863
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
G
Nos2
nitric oxide synthase 2
disease_progression severity no_association
ISO IEP IMP
protein:increased expression:lung, bronchoalveolar lavage fluid CTD Direct Evidence: marker/mechanism protein:increased expression, increased activity:lung (rat) DNA:repeats:promoter associated with Rhinitis, Allergic, Seasonal; protein:increased expression:nasal mucosa DNA:SNP:exon:p.S608L (human) DNA:repeats:promoter, introns (human) mRNA:increased expression:monocyte DNA:repeat:promoter
CTD RGD
PMID:19800904 PMID:17161822 PMID:21847581 PMID:18714530 PMID:18254476 PMID:17177683 PMID:17189532 PMID:20842520 PMID:16703578 PMID:16540403 PMID:20841959 More...
RGD:4891927 , RGD:5509073 , RGD:4891508 , RGD:4891910 , RGD:4891925 , RGD:4891924 , RGD:4891419 , RGD:4891953 , RGD:4891957 , RGD:4891480
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Nos3
nitric oxide synthase 3
susceptibility
ISO
DNA:snps, repeat, haplotype:promoter, introns, exons:multiple (human) DNA:polymorphisms:promoter:c. -786C>T, -691C>T (human) DNA:repeats:intron
RGD
PMID:18486767 PMID:16837812 PMID:16081038
RGD:4892053 , RGD:4892058 , RGD:4892062
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Npsr1
neuropeptide S receptor 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 2
CTD OMIM ClinVar RGD
PMID:15073379 PMID:15710598 PMID:15764725 PMID:16926187 PMID:17702965 PMID:18285428 PMID:15073379 More...
RGD:4891923 , RGD:4891922 , RGD:4891921
NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558
G
Npy
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9731035
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
G
Nqo1
NAD(P)H quinone dehydrogenase 1
susceptibility
ISO
DNA:SNP:exon:c. 609C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNP:exon:c.609C>T (human)
CTD RGD
PMID:20049212 PMID:19027876 PMID:19591959
RGD:5135006 , RGD:5135005
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
G
Nr3c1
nuclear receptor subfamily 3, group C, member 1
treatment susceptibility severity
ISO IDA
DNA:polymorphism:intron protein:increased expression, decreased activity:leukocyte, mononuclear
RGD
PMID:18396779 PMID:20727335 PMID:21113676 PMID:18799869 PMID:15295049
RGD:4892328 , RGD:7174728 , RGD:4892568 , RGD:4892594 , RGD:4892609
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
G
Ntf3
neurotrophin 3
ISO
protein:increased expression:lung, serum
RGD
PMID:11737043 PMID:17497413
RGD:4891123 , RGD:4891068
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
G
Ntf4
neurotrophin 4
ISO
protein:increased expression:lung, serum
RGD
PMID:17497413
RGD:4891068
NCBI chr 1:95,893,560...95,896,391
Ensembl chr 1:95,893,457...95,897,243
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO IEP
mRNA:increased expression:lung:
RGD
PMID:20934630 PMID:16708804
RGD:5684766 , RGD:5684772
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
G
Ormdl3
ORMDL sphingolipid biosynthesis regulator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21150878 PMID:25256354
NCBI chr10:83,590,052...83,596,035
Ensembl chr10:83,590,071...83,598,620
G
P2ry12
purinergic receptor P2Y12
ISO
RGD
PMID:22010907 PMID:19822647
RGD:6480532 , RGD:6480533
NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
G
Parp1
poly (ADP-ribose) polymerase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism protein:increased activation:lung, blood, mononuclear cell
CTD RGD
PMID:18261157 PMID:12594058 PMID:26205779 PMID:26205779
RGD:5683910 , RGD:11073727 , RGD:11073727
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
G
Pdcd1
programmed cell death 1
treatment
ISO
associated with Chlamydia pneumonia
RGD
PMID:26378990
RGD:41412180
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
G
Pde4b
phosphodiesterase 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr 5:116,799,819...117,369,155
Ensembl chr 5:116,799,971...117,367,696
G
Pde4d
phosphodiesterase 4D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19426955 PMID:21611147
NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
G
Pdgfb
platelet derived growth factor subunit B
ISO IMP
protein: increased expression
RGD
PMID:21216974 PMID:21216974
RGD:6483071 , RGD:6483071
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
G
Pgf
placental growth factor
ISO
RGD
PMID:22268141
RGD:6483605
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
RGD
PMID:18754810
RGD:6482695
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
G
Pin1
peptidylprolyl cis/trans isomerase, NIMA-interacting 1
IMP
RGD
PMID:18188456
RGD:8693422
NCBI chr 8:19,189,408...19,200,785
Ensembl chr 8:19,189,373...19,200,785
G
Pla2g4a
phospholipase A2 group 4A
IEP
RGD
PMID:15557087
RGD:1642462
NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
G
Pla2g7
phospholipase A2 group VII
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10733466 PMID:10733466
RGD:1581025
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
G
Plau
plasminogen activator, urokinase
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21912604 PMID:18519237
RGD:4892037
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Ppp2ca
protein phosphatase 2 catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22205926
NCBI chr10:36,358,110...36,377,864
Ensembl chr10:36,358,101...36,377,862
G
Prf1
perforin 1
ISO IDA
RGD
PMID:22250087 PMID:21426642
RGD:6482815 , RGD:6482818
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
G
Prg2
proteoglycan 2, pro eosinophil major basic protein
severity disease_progression no_association
ISO
mRNA:increased expression:eosinophil: associated with cough;protein:increased expression:sputum: associated with viral infection;mRNA:increased expression:sputum:
RGD
PMID:16982448 PMID:22022864 PMID:24450586 PMID:11067904
RGD:13506941 , RGD:13506944 , RGD:13506943 , RGD:13506942
NCBI chr 3:70,062,535...70,066,102
Ensembl chr 3:70,062,535...70,066,101
G
Prmt1
protein arginine methyltransferase 1
IEP
mRNA:increased expression:lung
RGD
PMID:20423833
RGD:9491823
NCBI chr 1:95,458,853...95,468,176
Ensembl chr 1:95,458,850...95,468,345
G
Prmt2
protein arginine methyltransferase 2
IEP
mRNA:increased expression:lung, spleen
RGD
PMID:20423833
RGD:9491823
NCBI chr20:12,394,748...12,420,643
Ensembl chr20:12,394,798...12,420,643
G
Prmt3
protein arginine methyltransferase 3
IEP
mRNA:increased expression:lung
RGD
PMID:20423833
RGD:9491823
NCBI chr 1:99,492,712...99,581,774
Ensembl chr 1:99,492,724...99,579,435
G
Prmt5
protein arginine methyltransferase 5
IEP
mRNA:increased expression:lung, spleen
RGD
PMID:20423833
RGD:9491823
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
G
Proc
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
RGD
PMID:26381519
RGD:11099992
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
G
Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17982072
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Ptgdr
prostaglandin D2 receptor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr15:17,360,304...17,367,679
Ensembl chr15:17,360,304...17,367,679
G
Ptgdr2
prostaglandin D2 receptor 2
ISO
Aspirin exacerbated asthma CTD Direct Evidence: therapeutic
CTD RGD
PMID:27103662 PMID:19796209 PMID:19392992 PMID:18757520
RGD:5135020 , RGD:5135019 , RGD:5135018
NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213
G
Ptger3
prostaglandin E receptor 3
treatment
IMP
RGD
PMID:23221044
RGD:10043366
NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
G
Ptgs2
prostaglandin-endoperoxide synthase 2
susceptibility severity
ISO IEP
mRNA:increased expression:lung DNA:SNP: :8473T>C (human) mRNA, protein:increased expression:lung: DNA:SNP: :rs689465 (human)
RGD
PMID:19878559 PMID:15316498 PMID:17573729 PMID:18097056 PMID:18489027 PMID:19342146 PMID:19862936 More...
RGD:5135514 , RGD:5143931 , RGD:5143923 , RGD:5135534 , RGD:5135526 , RGD:5135522 , RGD:5135515
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
G
Rad50
RAD50 double strand break repair protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24241537
NCBI chr10:37,809,353...37,861,309
Ensembl chr10:37,808,726...37,861,396
G
Rhoa
ras homolog family member A
IEP
RGD
PMID:18391481
RGD:2298885
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
G
Rnase3
ribonuclease A family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8874658 PMID:12153692 PMID:12587966
NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
G
RT1-B
RT1 class II, locus B
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:21814517
RGD:13506911
G
RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphisms (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism (human)
CTD RGD
PMID:10792356 PMID:12890388 PMID:10051703 PMID:11802952 PMID:19052351
RGD:5147799 , RGD:1331670 , RGD:5147831 , RGD:5147617
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
susceptibility disease_progression no_association
ISO
Alternaria sensitive asthma DNA:polymorphisms: : CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human)
CTD RGD
PMID:10792356 PMID:20298583 PMID:20159242 PMID:20214848 PMID:23331206 PMID:11802952 PMID:12890388 PMID:19052351 More...
RGD:4144113 , RGD:13506913 , RGD:4144181 , RGD:13506906 , RGD:5147831 , RGD:5147799 , RGD:5147617
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Da
RT1 class II, locus Da
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:20159242
RGD:13506913
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
G
RT1-Db1
RT1 class II, locus Db1
susceptibility no_association severity
ISO
DNA:polymorphisms: : CTD Direct Evidence: marker/mechanism DNA:polymorphism (human)
CTD RGD
PMID:16792590 PMID:19528258 PMID:20159242 PMID:23331206 PMID:10051703 PMID:19439981 PMID:20486920 PMID:20214848 More...
RGD:4144196 , RGD:13506913 , RGD:13506906 , RGD:1331670 , RGD:5147663 , RGD:5147607 , RGD:4144181
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
RT1-Ha
RT1 class II, locus Ha
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:21814517
RGD:13506911
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
G
RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :
CTD RGD
PMID:16792590 PMID:17956852 PMID:21814517
RGD:13506911
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
G
RT1-M3-1
RT1 class Ib, locus M3, gene 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM RGD
PMID:15611928
RGD:5144118
NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
G
Runx1
RUNX family transcription factor 1
ISO
DNA:SNPs: :multiple
RGD
PMID:21803869
RGD:6482835
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
G
Runx3
RUNX family transcription factor 3
ISS
OMIM:600807
MouseDO
NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
G
Scgb1a1
secretoglobin family 1A member 1
susceptibility
IEP ISO
mRNA,protein:decreased expression:bronchial alveolar lavage fluid, lung: ClinVar Annotator: match by term: Asthma, susceptibility to associated with allergic rhinitis; DNA:SNP:exon:38G>A (human) protein:decreased expression:serum
ClinVar RGD
PMID:9550363 PMID:9643286 PMID:12100044 PMID:12921604 PMID:21255142 PMID:15467329 More...
RGD:5144052 , RGD:5144226 , RGD:5144148
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
G
Scgb3a2
secretoglobin, family 3A, member 2
susceptibility severity no_association
ISO
DNA:SNP:promoter:-112G>A (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma, susceptibility to mRNA,protein:decreased expression:;lung protein:increased expression:sputum
CTD OMIM ClinVar RGD
PMID:11813133 PMID:11813133 PMID:15531759 PMID:16456148 PMID:17218572 PMID:18089940 PMID:18201431 More...
RGD:5144229 , RGD:5128690 , RGD:5144233 , RGD:5144232 , RGD:5144231 , RGD:5144230
NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762
G
Sell
selectin L
ISO
RGD
PMID:21437035 PMID:21515793
RGD:5685685 , RGD:5685696
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
G
Serpina1
serpin family A member 1
IEP
Fisher rats, shown to exhibit hyperactive airway responses at 14 days of age, had higher transcript and protein levels of Serpina1 than same age Brown Norway rats.
RGD
PMID:20118217
RGD:5131869
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
G
Serpine1
serpin family E member 1
susceptibility no_association severity
IEP ISO
protein:increased activity, increased expression:plasma, lung DNA:polymorphism:promoter:rs1799768 (human) protein:increased expression:plasma
RGD
PMID:18594148 PMID:19063817 PMID:19604112 PMID:19703828
RGD:4144836 , RGD:4144832 , RGD:4144833 , RGD:4144831
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Sftpa1
surfactant protein A1
IEP ISO
protein:decreased expression:lung, Clara cell, pneumocyte mRNA, protein:increased expression:lung
RGD
PMID:15816355 PMID:16629790 PMID:18802356 PMID:18926058
RGD:4143398 , RGD:4143462 , RGD:4143516 , RGD:4143289
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
G
Sftpb
surfactant protein B
ISO IEP
protein:increased expression:lung mRNA, protein:decreased expression:lung protein:decreased expression:lung, Clara cell
RGD
PMID:16629790 PMID:11472974 PMID:18926058 PMID:15816355
RGD:4143462 , RGD:4143465 , RGD:4143289 , RGD:4143398
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
G
Sftpc
surfactant protein C
susceptibility
ISO
mRNA, protein:decreased expression:lung protein:increased expression:lung DNA:polymorphism: :p.A53T (human)
RGD
PMID:11472974 PMID:16629790 PMID:19910179
RGD:4143465 , RGD:4143462 , RGD:4144063
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
G
Sftpd
surfactant protein D
ISO IEP
protein:increased expression:lung associated with Bronchitis;protein:increased expression:lung mRNA, protein:increased expression:lung
RGD
PMID:16629790 PMID:11472974 PMID:18266831 PMID:16839409 PMID:18802356
RGD:4143462 , RGD:4143465 , RGD:4143517 , RGD:4143508 , RGD:4143516
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
G
Slc11a1
solute carrier family 11 member 1
ISO
RGD
PMID:12847242
RGD:5684966
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
G
Slc18a3
solute carrier family 18 member A3
IEP
RGD
PMID:17328924
RGD:5686690
NCBI chr16:7,713,630...7,716,491
G
Slc22a1
solute carrier family 22 member 1
IEP
RGD
PMID:17328924
RGD:5686690
NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
G
Slc5a7
solute carrier family 5 member 7
IEP
mRNA:decreased expression:lung
RGD
PMID:17328924
RGD:5686690
NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
G
Slc6a4
solute carrier family 6 member 4
susceptibility
ISO
DNA:repeat:intron (human)
RGD
PMID:19806585
RGD:4889460
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
G
Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22867017
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
G
Sod2
superoxide dismutase 2
ISO
RGD
PMID:15743779
RGD:1581231
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Sprr2b
small proline rich protein 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21912604
NCBI chr 2:177,852,824...177,853,096
Ensembl chr 2:177,852,824...177,853,096
G
Stat4
signal transducer and activator of transcription 4
treatment
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28807506 PMID:18211752
RGD:2317290
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Stat6
signal transducer and activator of transcription 6
treatment
IEP IDA
RGD
PMID:19087723 PMID:16083555
RGD:7244151 , RGD:7244153
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
G
Tac1
tachykinin, precursor 1
ISO
protein:increased expression:lung
RGD
PMID:11031342
RGD:5147836
NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
G
Tacr1
tachykinin receptor 1
IEP ISO
protein:increased expression:lung mRNA:increased expression:lung mRNA,protein:increased expression:lung
RGD
PMID:17392578 PMID:8240667 PMID:16409782
RGD:2304339 , RGD:5147645 , RGD:5147475
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
G
Tacr2
tachykinin receptor 2
ISO
DNA:SNP:cds:p.G231E (human)
RGD
PMID:20175803 PMID:19880429
RGD:5147640 , RGD:5147641
NCBI chr20:30,208,907...30,223,446
Ensembl chr20:30,208,907...30,223,446
G
Tap1
transporter 1, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:12640628
RGD:5147845
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
G
Tbx21
T-box transcription factor 21
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:600807
CTD MouseDO
PMID:15806396
NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
G
Tbxa2r
thromboxane A2 receptor
susceptibility severity
ISO
ClinVar Annotator: match by term: Asthma DNA:polymorphism:cds:924T>C(human)
ClinVar RGD
PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:15118671 PMID:12000493 PMID:15805995 More...
RGD:1331525 , RGD:11059535 , RGD:11059534
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
G
Tgfb1
transforming growth factor, beta 1
onset no_association
ISO IEP
DNA:SNP: :-509C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:promoter, exon:multiple (human) DNA:SNP:cds:915G>C (human) mRNA:increased expression:lung protein:increased expression:serum DNA:polymorphisms: :multiple (human) DNA:polymorphism: :-509C>T (human)
CTD RGD
PMID:16365456 PMID:19138248 PMID:17673695 PMID:18366906 PMID:19096005 PMID:19620629 PMID:19046298 PMID:20485865 PMID:19317336 PMID:19136038 PMID:18711258 PMID:19222424 PMID:19533439 More...
RGD:4145295 , RGD:4145280 , RGD:4145143 , RGD:4145132 , RGD:4145142 , RGD:4145113 , RGD:4145139 , RGD:4145144 , RGD:4143443 , RGD:4145299 , RGD:4145297
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Thbd
thrombomodulin
ISO
RGD
PMID:20709825
RGD:5684984
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
G
Timp3
TIMP metallopeptidase inhibitor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16926187
NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
G
Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:SNP (human)
RGD
PMID:18547625
RGD:4889528
NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
G
Tlr10
toll-like receptor 10
susceptibility
ISO
DNA:SNP (human)
RGD
PMID:18547625
RGD:4889528
NCBI chr14:43,400,843...43,414,056
Ensembl chr14:43,406,217...43,413,917
G
Tlr2
toll-like receptor 2
susceptibility severity
ISO
DNA:SNP: :596T>C (human) DNA:polymorphism:cds:p.R753Q(human) DNA:SNP: :rs3804100 (human) DNA:SNP: :rs7656411 (human) DNA:SNP: :rs4696480 (human)
RGD
PMID:19096003 PMID:22402138 PMID:19148143 PMID:18202345 PMID:20815312 PMID:20685742 PMID:18787777 More...
RGD:4144228 , RGD:7800732 , RGD:2312679 , RGD:4145343 , RGD:4145352 , RGD:4144171 , RGD:4145334
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr3
toll-like receptor 3
no_association
ISO IMP
Asthma, Virus-Induced; mRNA:increased expression:sputum (human) DNA:snp:cds:p.L412F (human)
RGD
PMID:21129050 PMID:17434873 PMID:14987294 PMID:17610940 PMID:21364926
RGD:5129226 , RGD:5129478 , RGD:5129493 , RGD:5129475 , RGD:5128500
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
G
Tlr4
toll-like receptor 4
susceptibility no_association severity
ISO
DNA:Polymorphism:cds:p.D299G (human) DNA:SNPs:: protein:decreased expression:leukocytes, mononuclear DNA:SNPs: :rs10983755, rs1927914 (human) DNA:polymorphisms:cds:c.896A>G, 1196C>T (human)
RGD
PMID:15356557 PMID:20628601 PMID:20685742 PMID:19067129 PMID:19330007 PMID:19159017 PMID:16266379 More...
RGD:4144817 , RGD:4144176 , RGD:4144171 , RGD:4144190 , RGD:4144141 , RGD:4144188 , RGD:4144198
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:SNP (human) DNA:SNP: :p.S249P (human)
RGD
PMID:18547625 PMID:15266299
RGD:4889528 , RGD:4889538
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
G
Tlr9
toll-like receptor 9
no_association susceptibility severity
ISO
DNA:SNP:promoter:g.-1237T>C rs5743836 (human) DNA:snp:promoter:g.-1237T>C rs5743836 (human) protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21324137 PMID:18312481 PMID:20016192 PMID:20072849
RGD:5130712 , RGD:4144208 , RGD:5129104 , RGD:4889523
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Tnc
tenascin C
ISO
CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) protein:increased expression:bronchus basement membrane DNA:SNP:exon:p.L1677I (human)
CTD RGD
PMID:16115819 PMID:17125141 PMID:18305139 PMID:9310019 PMID:16115819
RGD:4889565 , RGD:4889589 , RGD:4889572 , RGD:4889569
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
G
Tnf
tumor necrosis factor
susceptibility no_association
ISO
DNA:polymorphism:promoter: c. -308A>G (human) ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism associated with obesity; DNA:polymorphism:promoter DNA:polymorphisms:: rs1799964, rs1799724 (human) DNA:polymorphisms: : associated with nasal polys; protein:increased expression:nose DNA:polymorphism:promoter:c.-863C > A (human)
ClinVar OMIM CTD RGD
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 PMID:11826025 PMID:11896460 PMID:12356572 PMID:12485196 PMID:12746914 PMID:12759288 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16456144 PMID:16720636 PMID:16865291 PMID:16909270 PMID:17450233 PMID:18050183 PMID:18713756 PMID:19365401 PMID:20049212 PMID:22760475 PMID:22992668 PMID:18711258 PMID:19196817 PMID:16393274 PMID:12530118 PMID:18811622 PMID:18763028 PMID:20465535 PMID:16728705 More...
RGD:4143443 , RGD:4143238 , RGD:4145508 , RGD:4143254 , RGD:4143240 , RGD:4142802 , RGD:4143369 , RGD:4143372
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:lung (mouse)
RGD
PMID:20484920
RGD:5131201
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
G
Tnip1
TNFAIP3 interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24453940
NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
G
Trpa1
transient receptor potential cation channel, subfamily A, member 1
severity
ISO IMP
CTD Direct Evidence: marker/mechanism ovalbumin sensitization
CTD RGD
PMID:19458046 PMID:31969645
RGD:127285811
NCBI chr 5:4,379,862...4,434,133
Ensembl chr 5:4,379,999...4,433,570
G
Trpa1em1Gne
transient receptor potential cation channel, subfamily A, member 1;CRISPR/Cas9 induced mutant 1, Gne
severity
IMP
ovalbumin sensitization
RGD
PMID:31969645
RGD:127285811
G
Tslp
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21804549
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
G
Ucn
urocortin
IEP
associated with Hypersensitivity;mRNA, protein:increased expression:lung
RGD
PMID:16427607
RGD:1642781
NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950
G
Uts2
urotensin 2
IEP
RGD
PMID:17045018
RGD:2306832
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
G
Vdr
vitamin D receptor
no_association
ISO
DNA:SNP: :rs7975232 (human) DNA:SNPs (human) DNA:SNPs: :multiple (human) DNA:SNP (human)
RGD
PMID:19622139 PMID:20124605 PMID:15282200 PMID:21103062
RGD:4889868 , RGD:4889867 , RGD:4889854 , RGD:4889866
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:sputum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11907124 PMID:15201500 PMID:19263519 PMID:19178538
RGD:6892723
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Vip
vasoactive intestinal peptide
IDA ISO
RGD
PMID:21419198 PMID:16782752
RGD:5685381 , RGD:5685620
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
G
Wdr36
WD repeat domain 36
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19198610
NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092
G
RT1-Da
RT1 class II, locus Da
susceptibility
ISO
DNA:SNPs,haplotype:introns:
RGD
PMID:22391069
RGD:13506908
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
G
Tbx21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Asthma and nasal polyps
ClinVar
PMID:15806396
NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
G
Alox15
arachidonate 15-lipoxygenase
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:17959182 PMID:21558275 PMID:30643255
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
G
Ltc4s
leukotriene C4 synthase
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
ClinVar
PMID:25741868
NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
G
Ptger2
prostaglandin E receptor 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714
G
Tbx21
T-box transcription factor 21
ISO
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:25741868
NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
G
Adrb2
adrenoceptor beta 2
ISO
RGD
PMID:17687719
RGD:4145098
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
G
Ccl11
C-C motif chemokine ligand 11
severity
ISO
protein:increased expression:nasal mucus associated with Respiratory Syncytial Virus Infections
RGD
PMID:17297249 PMID:15681407
RGD:4145460 , RGD:4145415
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
G
Cd40
CD40 molecule
ISO
RGD
PMID:19470255
RGD:5132271
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cd86
CD86 molecule
ISO
protein:decreased expression:myeloid dendritic cell (mouse)
RGD
PMID:20046053
RGD:4892291
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
G
Crp
C-reactive protein
severity
ISO
RGD
PMID:21284715
RGD:5131282
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Cysltr1
cysteinyl leukotriene receptor 1
ISO
associated with Pneumovirus Infections
RGD
PMID:16337014
RGD:4843953
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
G
Il17a
interleukin 17A
susceptibility
ISO
DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il1b
interleukin 1 beta
ISO
protein:increased expression:lung
RGD
PMID:8608647
RGD:4143192
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:lung
RGD
PMID:8608647
RGD:4143192
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
DNA:polymorphisms:promoter:rs885454,rs17235353, rs7115457 (human)
RGD
PMID:15709052
RGD:7349353
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
G
Ace
angiotensin I converting enzyme
IMP
RGD
PMID:17097496
RGD:4140933
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Adora2a
adenosine A2a receptor
ISO
RGD
PMID:19766783
RGD:4890362
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
G
Ccl17
C-C motif chemokine ligand 17
ISO
RGD
PMID:18785972
RGD:4145604
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
G
Ccl2
C-C motif chemokine ligand 2
IMP
RGD
PMID:14611812
RGD:2307195
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl22
C-C motif chemokine ligand 22
ISO
RGD
PMID:20628341
RGD:4891471
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
G
Ccl5
C-C motif chemokine ligand 5
IEP IMP
mRNA:increased expression:lung (rat)
RGD
PMID:19840961 PMID:14611812
RGD:4889978 , RGD:2307195
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccl7
C-C motif chemokine ligand 7
IEP
protein:increased expression:bronchoalveolar Lavage fluid
RGD
PMID:22215510
RGD:6483763
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
G
Ccr2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:trachea:
RGD
PMID:11518728
RGD:4145124
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Cd86
CD86 molecule
IMP
RGD
PMID:11266944
RGD:2307206
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
G
Csf2
colony stimulating factor 2
IEP
associated with Respiratory Aspiration;protein:increased expression:serum
RGD
PMID:18557728
RGD:2317286
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16709871 PMID:12097412 PMID:12097412
RGD:5135441 , RGD:5135451 , RGD:5135451
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cxcl11
C-X-C motif chemokine ligand 11
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:12097412 PMID:12097412
RGD:5135451 , RGD:5135451
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:16709871 PMID:12097412 PMID:12097412
RGD:5135441 , RGD:5135451 , RGD:5135451
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:16709871 PMID:12097412
RGD:5135441 , RGD:5135451
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
G
Edn1
endothelin 1
ISO
human gene in a rat model
RGD
PMID:9595474
RGD:8662402
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Foxp3
forkhead box P3
IEP
mRNA:increased expression:lung
RGD
PMID:19840961
RGD:4889978
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Gzmb
granzyme B
ISO
RGD
PMID:19737140
RGD:5135518
NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
G
Hmox1
heme oxygenase 1
ISO
RGD
PMID:12973103
RGD:4145412
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16137903
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il13
interleukin 13
ISO
protein:increased expression:bronchoalveolar lavage fluid
RGD
PMID:17182591
RGD:4146242
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il13ra1
interleukin 13 receptor subunit alpha 1
ISO
RGD
PMID:17182591
RGD:4146242
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
G
Il13ra2
interleukin 13 receptor subunit alpha 2
ISO
RGD
PMID:17182591
RGD:4146242
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
G
Il17a
interleukin 17A
ISO
mRNA:increased expression:trachea
RGD
PMID:20393404
RGD:4143277
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:lung
RGD
PMID:11889437
RGD:4143176
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il4
interleukin 4
IEP
protein:increased expression:serum
RGD
PMID:18557728
RGD:2317286
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Il6
interleukin 6
ISO
RGD
PMID:20393404
RGD:4143277
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Mbl2
mannose binding lectin 2
resistance
ISO
DNA:transversion:5' utr:-290C>G rs7096206 (human)
RGD
PMID:19104434
RGD:4889456
NCBI chr 1:228,016,439...228,024,736
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression, increased activity:bronchoalveolar lavage fluid
RGD
PMID:20417130
RGD:5130759
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:16969297
RGD:5131273
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:18158963
RGD:5131450
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Nos2
nitric oxide synthase 2
ISO
associated with lung transplantation; protein:increased expression:lung
RGD
PMID:11112135
RGD:4892082
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Nos3
nitric oxide synthase 3
IEP
protein:increased expression:lung
RGD
PMID:15136885
RGD:4892068
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Scgb1a1
secretoglobin family 1A member 1
ISO
associated with lung transplantation; protein:decreased expression:serum,bronchoalveolar lavage
RGD
PMID:11981419
RGD:5147386
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
G
Sftpd
surfactant protein D
ISO
RGD
PMID:18347569
RGD:4143500
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
G
Tlr9
toll-like receptor 9
ISO
DNA:SNPs:promoter, 3' utr:g.-1485C>T (rs187084), rs352162 (human)
RGD
PMID:20227302
RGD:5130722
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
DNA:polymorphism (human)
RGD
PMID:14593914
RGD:4889126
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
G
Egr1
early growth response 1
ISO
RGD
PMID:17384085
RGD:5132266
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
G
Hdac2
histone deacetylase 2
treatment
IEP
RGD
PMID:22708526
RGD:9590258
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
G
Ifng
interferon gamma
resistance
ISO
RGD
PMID:20953328
RGD:4145525
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
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 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Ngf
nerve growth factor
treatment
IMP
RGD
PMID:30681402
RGD:405100716
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
G
Ccl11
C-C motif chemokine ligand 11
ISO
RGD
PMID:11991282
RGD:4145442
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
G
Cftr
CF transmembrane conductance regulator
susceptibility
ISO
DNA:deletion: :F508del(human) associated with pulmonary disease chronic obstructive; DNA:missense mutation:exon:p.R75Q(human)
RGD
PMID:10767489 PMID:15463907
RGD:4140484 , RGD:4140475
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:19386687
RGD:4891509
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:15928955
RGD:4142512
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
DNA:polymorphism (human)
RGD
PMID:14593914
RGD:4889126
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
G
Edn1
endothelin 1
ISO
Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse)
RGD
PMID:18631350
RGD:4145074
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Gc
GC, vitamin D binding protein
susceptibility
ISO
RGD
PMID:12096683
RGD:5129516
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
G
Gstm1
glutathione S-transferase mu 1
severity
ISO
DNA:deletion: : DNA:deletion, haplotype: : (human)
RGD
PMID:9187680 PMID:15125256
RGD:4142513 , RGD:12798508
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:15928955
RGD:4142512
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Icam1
intercellular adhesion molecule 1
IEP
protein:increased expression:bronchial epithelium (rat)
RGD
PMID:19507274
RGD:2308951
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Il10
interleukin 10
IEP
protein:decreased expression:lung
RGD
PMID:19507274
RGD:2308951
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il13
interleukin 13
ISO
protein:increased expression:Respiratory Mucosa
RGD
PMID:14582911
RGD:4759835
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
G
Mpo
myeloperoxidase
IEP
protein:increased expression:lung
RGD
PMID:11798689
RGD:5130990
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
G
Nos2
nitric oxide synthase 2
IDA
RGD
PMID:19938219
RGD:4891494
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Npy
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9731035
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
G
Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19263519
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Abcc1
ATP binding cassette subfamily C member 1
severity
ISO
mRNA:decreased expression:respiratory epithelial cell DNA:SNPs: :rs212093, rs4148382 (human)
RGD
PMID:12930913 PMID:20487524
RGD:5128827 , RGD:5128824
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
G
Ace
angiotensin I converting enzyme
susceptibility disease_progression
ISO
DNA:polymorphism (human)
RGD
PMID:20096799 PMID:20156752 PMID:19493329
RGD:4140487 , RGD:4140480 , RGD:4140912
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Adam33
ADAM metallopeptidase domain 33
no_association susceptibility
ISO
DNA:polymorphisms: :multiple (human) DNA:polymorphisms (human)
RGD
PMID:19284602 PMID:20156753 PMID:20003279
RGD:4145361 , RGD:4145358 , RGD:4145357
NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461
G
Adam9
ADAM metallopeptidase domain 9
ISO
protein:increased expression:pulmonary artery
RGD
PMID:36522710
RGD:401850545
NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
G
Adipoq
adiponectin, C1Q and collagen domain containing
disease_progression
ISO
associated with Metabolic Syndrome X;protein:decreased expression:serum
RGD
PMID:22207678 PMID:21179920
RGD:5686379 , RGD:5686825
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Adora2a
adenosine A2a receptor
ISO
RGD
PMID:16339780
RGD:4890385
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
G
Adrb1
adrenoceptor beta 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar RGD
PMID:10212248 PMID:12374873 PMID:16844790 PMID:17496726 PMID:25741868 PMID:11527135 More...
RGD:5129114
NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
G
Adrb2
adrenoceptor beta 2
no_association severity disease_progression
ISO
DNA:polymorphism: :p.Q27E (human) DNA:SNPs: :rs1042717, rs1042718 (human) DNA:SNP: :p.R16G (human) DNA:SNPs: :p.R16G, p.Q27E (human) protein:decreased expression:blood, sputum, mononuclear cell
RGD
PMID:11527135 PMID:19293197 PMID:20525719 PMID:19747908 PMID:18667995 PMID:18789663 PMID:20211002 PMID:19080468 More...
RGD:5129114 , RGD:4145082 , RGD:4140935 , RGD:4145080 , RGD:4145095 , RGD:4145093 , RGD:4144899 , RGD:4145086
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
G
Ager
advanced glycosylation end product-specific receptor
ISO
ClinVar Annotator: match by term: COPD, severe early onset
ClinVar RGD
PMID:20133931
RGD:6767312
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
G
Ang
angiogenin
ISO
protein:increased expression:sputum
RGD
PMID:21916917
RGD:6892708
NCBI chr15:24,312,711...24,323,361
G
Arnt2
aryl hydrocarbon receptor nuclear translocator 2
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153
G
Bambi
BMP and activin membrane-bound inhibitor
ISO
mRNA:increased expression:CD4+ T :
RGD
PMID:27549738
RGD:14390164
NCBI chr17:54,121,251...54,125,816
Ensembl chr17:54,121,255...54,126,060
G
Bcl2l1
Bcl2-like 1
ISO
mRNA:increased expression:peripheral blood, neutrophil (human)
RGD
PMID:22686245
RGD:11353864
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
G
Bdkrb2
bradykinin receptor B2
ISO
RGD
PMID:16600946
RGD:4890451
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
G
Bmal2
basic helix-loop-helix ARNT like 2
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 4:179,699,432...179,747,710
Ensembl chr 4:179,699,502...179,746,949
G
Bnip3
BCL2 interacting protein 3
treatment
IEP
RGD
PMID:25888379
RGD:11561985
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
G
C3
complement C3
ISO
protein:increased expression:lung
RGD
PMID:17975205
RGD:5129504
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
C5
complement C5
severity
ISO
protein:increased expression:sputum
RGD
PMID:20500690
RGD:5129705
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
G
C5ar1
complement C5a receptor 1
ISO
protein:increased expression:lung, mast cell
RGD
PMID:19926870
RGD:5130165
NCBI chr 1:76,948,622...76,959,826
G
Casp12
caspase 12
treatment
IEP
RGD
PMID:24694971
RGD:13782182
NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
G
Casp3
caspase 3
treatment
IEP
RGD
PMID:28496315
RGD:13782303
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
G
Casp8
caspase 8
treatment
IEP
RGD
PMID:28496315
RGD:13782303
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
G
Cat
catalase
ISO
RGD
PMID:20080081
RGD:4293707
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Ccl1
C-C motif chemokine ligand 1
severity
ISO
DNA:SNP:enhancer:rs2282691 (human)
RGD
PMID:16864713
RGD:4891410
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
G
Ccl11
C-C motif chemokine ligand 11
severity
ISO
RGD
PMID:19925666
RGD:4145389
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
G
Ccl17
C-C motif chemokine ligand 17
ISO
mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion
RGD
PMID:18684970
RGD:4145489
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
G
Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:34652871 PMID:20497022
RGD:4891429
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl22
C-C motif chemokine ligand 22
ISO
mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion
RGD
PMID:18684970
RGD:4145489
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
G
Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:17868461 PMID:11475557
RGD:5130900 , RGD:5130901
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
G
Ccl5
C-C motif chemokine ligand 5
ISO
mRNA, protein:increased expression:lung, bronchial epithelium, submucosa (human)
RGD
PMID:19703829
RGD:4891477
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccl7
C-C motif chemokine ligand 7
ISO
mRNA,protein:increased expression:macrophage
RGD
PMID:21327296
RGD:6483765
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
G
Ccn2
cellular communication network factor 2
IEP
mRNA, protein:increased expression:lung (rat)
RGD
PMID:19659652
RGD:2314483
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
G
Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:respiratory system fluid/secretion, neutrophil
RGD
PMID:19017998
RGD:4145632
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
G
Ccr5
C-C motif chemokine receptor 5
ISO
protein:increased expression:blood (human)
RGD
PMID:19229703
RGD:4892070
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Cd28
Cd28 molecule
ISO
CD28 null allele is increased in COPD
RGD
PMID:19220836 PMID:18057064
RGD:5131618 , RGD:5131620
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
G
Cd40
CD40 molecule
severity
ISO
RGD
PMID:20699612
RGD:5490968
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cd80
Cd80 molecule
ISO
RGD
PMID:19729666
RGD:4892292
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
G
Cd86
CD86 molecule
severity susceptibility
ISO
protein:increased expression:lung, myeloid dendritic cell (human) DNA:polymorphism:cds:g.1057G>A rs1129055 (human)
RGD
PMID:19729666 PMID:20732370
RGD:4892292 , RGD:4891504
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
G
Cd8a
CD8 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17950725
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35303175
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35303175
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
G
Cftr
CF transmembrane conductance regulator
disease_progression
ISO
DNA:polymorphism:cds:p.M470V(human)
RGD
PMID:18652532
RGD:4140431
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:20656949
RGD:4892658
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
G
Chrm3
cholinergic receptor, muscarinic 3
ISO
RGD
PMID:19281093
RGD:5133441
NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
G
Chrna3
cholinergic receptor nicotinic alpha 3 subunit
susceptibility disease_progression
ISO
associated with smoking; DNA:SNP::rs1051730(human) DNA:SNP: :rs12910984(human) DNA:SNP: :rs6495309(human) associated with smoking; DNA:SNP: :rs1051730(human)
RGD
PMID:29993116 PMID:23207642 PMID:23056235 PMID:22441734 PMID:26751916
RGD:150526806 , RGD:151347538 , RGD:151347536 , RGD:151347455 , RGD:150527850
NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165
G
Chrna5
cholinergic receptor nicotinic alpha 5 subunit
susceptibility
ISO
associated with lung cancer; DNA:SNP::rs16969968 (human) associated with smoking; DNA:SNP::rs16969968 (human)
RGD
PMID:33419953 PMID:29993116
RGD:150524357 , RGD:150526806
NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
G
Chrna7
cholinergic receptor nicotinic alpha 7 subunit
disease_progression
ISO
DNA:CNV:: CNV-3956(human)
RGD
PMID:25407004
RGD:11074492
NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
G
Clca1
chloride channel accessory 1
severity
ISO
mRNA:increased expression:bronchus DNA:SNPs: :multiple (human)
RGD
PMID:17637221 PMID:14985398
RGD:4145655 , RGD:1331524
NCBI chr 2:233,938,677...233,964,369
Ensembl chr 2:233,938,677...233,964,369
G
Cma1
chymase 1
ISO
protein:increased expression:respiratory tract epithelium, mast cell (human)
RGD
PMID:18783610
RGD:5128552
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
G
Col1a1
collagen type I alpha 1 chain
ISO
RGD
PMID:15469929
RGD:5131854
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Crhr1
corticotropin releasing hormone receptor 1
treatment
ISO
DNA:SNP:intron: (rs242941) (human)
RGD
PMID:19210659
RGD:11097322
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
G
Crp
C-reactive protein
severity
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29329563 PMID:21506665 PMID:21468168
RGD:5131278 , RGD:5131279
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Csf2
colony stimulating factor 2
ISO
protein:increased expression:sputum
RGD
PMID:19213775
RGD:5131476
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNP: :-318C>T (rs5742909) (human)
RGD
PMID:21129004 PMID:20732370
RGD:4891499 , RGD:4891504
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23099361 PMID:20858153
RGD:4890939
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:sputum
RGD
PMID:17925429
RGD:5135436
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cxcl11
C-X-C motif chemokine ligand 11
ISO
protein:increased expression:sputum
RGD
PMID:17925429
RGD:5135436
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
G
Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23099361
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
G
Cxcl3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23099361
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
G
Cxcl6
C-X-C motif chemokine ligand 6
severity
ISO
RGD
PMID:12857718
RGD:5135248
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:sputum
RGD
PMID:19229703 PMID:17925429
RGD:4892070 , RGD:5135436
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
G
Cxcr2
C-X-C motif chemokine receptor 2
severity
ISO
RGD
PMID:12857718
RGD:5135248
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
G
Cxcr3
C-X-C motif chemokine receptor 3
disease_progression
ISO
protein:increased expression:respiratory system fluid/secretion, neutrophil
RGD
PMID:19218194 PMID:19017998
RGD:5135435 , RGD:4145632
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
G
Cyba
cytochrome b-245 alpha chain
susceptibility
ISO
DNA:polymorphism: :p.H72Y (human) DNA:polymorphisms: :-930A>G, 242C>T (human)
RGD
PMID:19567155 PMID:20080081
RGD:4304108 , RGD:4293707
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
G
Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
G
Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
no_association susceptibility severity
ISO
DNA:polymorphisms: :2455A>G, 3801T>C (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :p.I462V, 3801T>C (human) DNA:polymorphism (human)
CTD RGD
PMID:19022366 PMID:18389617 PMID:20080081 PMID:19507017
RGD:4892071 , RGD:4293707 , RGD:4892045
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
G
Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
susceptibility
ISO
DNA:polymorphisms: :-3860G>A (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20797314 PMID:20080081
RGD:4293707
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
G
Cyp2c79
cytochrome P450, family 2, subfamily c, polypeptide 79
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
PMID:25741868
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
DNA:polymorphisms: :-1293G>C, 7632T>A, 9893C>G (human)
RGD
PMID:17442289
RGD:4892219
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
G
Cyp2j4
cytochrome P450, family 2, subfamily j, polypeptide 4
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
G
Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
PMID:28492532
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
G
Cyp46a1
cytochrome P450, family 46, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 6:127,247,543...127,274,765
Ensembl chr 6:127,243,315...127,274,760
G
Cyp4a1
cytochrome P450, family 4, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 5:129,123,323...129,137,464
Ensembl chr 5:129,123,336...129,137,464
G
Cyp4b1
cytochrome P450, family 4, subfamily b, polypeptide 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 5:129,139,019...129,176,860
Ensembl chr 5:129,139,038...129,156,348
G
Ddit3
DNA-damage inducible transcript 3
treatment
IEP
RGD
PMID:24694971
RGD:13782182
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
G
Defb1
defensin beta 1
susceptibility no_association
ISO
DNA:polymorphism: :668C>G (human) DNA:SNPs: :multiple (human) DNA:polymorphism (human)
RGD
PMID:15569478 PMID:16700921 PMID:11829455
RGD:4892257 , RGD:4892251 , RGD:1331523
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
G
Dsp
desmoplakin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
CTD ClinVar
PMID:28166215
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
G
Edn1
endothelin 1
ISO
DNA:insertion, transversion:5' utr, exon:c.138_139insA, p.K198N (human) protein:increased expression:sputum (human)
RGD
PMID:20707291 PMID:10445603
RGD:4144868 , RGD:4145062
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
G
Eefsec
eukaryotic elongation factor, selenocysteine-tRNA-specific
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28166215
NCBI chr 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779
G
Egfr
epidermal growth factor receptor
ISO IEP
protein:increased expression:bronchial epithelium (human)
RGD
PMID:16393673 PMID:22732689
RGD:5131627 , RGD:7204496
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
G
Egr1
early growth response 1
ISO
associated with Tobacco Use Disorder associated with Tobacco Use Disorder;mRNA:increased expression:lung (human)
RGD
PMID:20417178 PMID:15469929
RGD:5131878 , RGD:5131854
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
G
Eln
elastin
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25106431 PMID:16081882
RGD:1580326
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
G
Ephx1
epoxide hydrolase 1
no_association susceptibility
ISO
DNA:SNP:exon:p.H139R (rs2234922) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) DNA:polymorphism DNA:SNPs: :multiple (human)
CTD RGD
PMID:9288046 PMID:20932192 PMID:18811882 PMID:9288046 PMID:18614560 PMID:17564249 More...
RGD:4889120 , RGD:4889121 , RGD:1601065 , RGD:4889122 , RGD:4889123
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
G
Erbb3
erb-b2 receptor tyrosine kinase 3
IEP
protein:increased expression:lung
RGD
PMID:17908459
RGD:2289953
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
G
F2
coagulation factor II, thrombin
severity
ISO
RGD
PMID:21660493
RGD:5147752
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
F2rl1
F2R like trypsin receptor 1
ISO
RGD
PMID:21245013
RGD:4892586
NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226
G
Faim2
Fas apoptotic inhibitory molecule 2
IEP
RGD
PMID:29208459
RGD:13792601
NCBI chr 7:130,632,368...130,659,353
Ensembl chr 7:130,633,348...130,659,168
G
Fam13a
family with sequence similarity 13, member A
susceptibility
ISO
DNA:SNP: :rs7671167 (human) ClinVar Annotator: match by term: Chronic obstructive pulmonary disease CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:20173748 PMID:28166215 PMID:25928290
RGD:11552597
NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
G
Fas
Fas cell surface death receptor
IEP
RGD
PMID:29208459
RGD:13792601
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Faslg
Fas ligand
IEP
RGD
PMID:29208459
RGD:13792601
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
G
Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:increased expression:lung
RGD
PMID:15681497
RGD:5684420
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
G
Foxo3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23099361
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
G
Gc
GC, vitamin D binding protein
ISO
GAD RGD
PMID:15118671 PMID:9517617
RGD:1331525 , RGD:5509932
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
G
Grik5
glutamate ionotropic receptor kainate type subunit 5
susceptibility
ISO
DNA:SNP: :rs8099939
RGD
PMID:28900078
RGD:401900295
NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
G
Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
susceptibility
ISO
DNA:SNP: :rs2268132
RGD
PMID:28900078
RGD:401900295
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
G
Gstm1
glutathione S-transferase mu 1
susceptibility resistance
ISO
DNA:deletion: : mRNA:decreased expression:lung associated with Carcinoma, Non-Small-Cell Lung;
RGD
PMID:19664521 PMID:16919984 PMID:15038404
RGD:4140939 , RGD:4142517 , RGD:4142538
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstp1
glutathione S-transferase pi 1
susceptibility no_association
ISO
mRNA:decreased expression:lung ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to DNA:polymorphism:exon:p.I105V (human) DNA:SNPs: :p.I105V, p.A114V (human)
ClinVar RGD
PMID:16919984 PMID:20467983 PMID:17532303 PMID:17439673
RGD:4142517 , RGD:4140938 , RGD:4142511 , RGD:4142514
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
associated with GSTM1 null mutation; DNA:deletion: :
RGD
PMID:19664521 PMID:20402821
RGD:4140939 , RGD:4140928
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Gzma
granzyme A
ISO
RGD
PMID:20047264
RGD:5135520
NCBI chr 2:44,740,569...44,752,502
Ensembl chr 2:44,740,569...44,752,493
G
Gzmb
granzyme B
ISO
RGD
PMID:20540777
RGD:5135516
NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
G
Hdac2
histone deacetylase 2
treatment
IEP ISO
protein:decreased expression:lung: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15337792 PMID:18421014 PMID:22732689 PMID:24940433
RGD:7204496 , RGD:9590287
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
G
Hdac8
histone deacetylase 8
severity
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:15888697
RGD:13208820
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
G
Hhip
Hedgehog-interacting protein
susceptibility
ISO
DNA:SNPs: :rs11100865, rs7654947(human) ClinVar Annotator: match by term: Chronic obstructive pulmonary disease, biomass related DNA:SNP: :rs13118928(human)
ClinVar RGD
PMID:25928290 PMID:19996190
RGD:11552597 , RGD:11552598
NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
G
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26752192
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
G
Hmox1
heme oxygenase 1
susceptibility treatment severity
ISO IEP
DNA:polymorphism:promoter ClinVar Annotator: match by term: HMOX1-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:25741868 PMID:28492532 PMID:17203192 PMID:20705587 PMID:17254481
RGD:4145372 , RGD:10755705 , RGD:4145371
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Hp
haptoglobin
ISO
RGD
PMID:21471098
RGD:5144151
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
G
Hspa1b
heat shock protein family A (Hsp70) member 1B
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
G
Hspa1l
heat shock protein family A (Hsp70) member 1 like
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
G
Hspa4
heat shock protein family A (Hsp70) member 4
no_association
ISO
protein:increased expression:serum (human) protein:increased expression:bronchial mucosa (human)
RGD
PMID:19350847 PMID:22140545
RGD:5688779 , RGD:5688781
NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
G
Htr2a
5-hydroxytryptamine receptor 2A
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs6313
CTD RGD
PMID:22048642 PMID:28900078
RGD:401900295
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
G
Icam1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:airway epithelial cell (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:airway epithelium (mouse)
CTD RGD
PMID:29329563 PMID:20395558 PMID:18794286
RGD:4145446 , RGD:4145522
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Il12b
interleukin 12B
ISO
DNA:polymorphism: :
RGD
PMID:19279357
RGD:4145423
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
G
Il13
interleukin 13
susceptibility no_association
ISO
DNA:polymorphism: :c. 1103C>T (human) DNA:polymorphisms:intron1,exon4s: rs2066960, rs20541, rs1295685 (human) DNA:SNP:promoter:c.-1055 C>T (human) DNA:polymorphism:promoter:c.-1055C>T (human)
RGD
PMID:15308043 PMID:19796199 PMID:15820084 PMID:19995275
RGD:4145668 , RGD:4145601 , RGD:4145714 , RGD:4145596
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il13ra1
interleukin 13 receptor subunit alpha 1
ISO
DNA:SNP: :rs2250747 (human)
RGD
PMID:19796199
RGD:4145601
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
G
Il16
interleukin 16
ISO
protein:increased expression:lung
RGD
PMID:20079227
RGD:5024924
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
G
Il17a
interleukin 17A
ISO IEP
protein:increased expression:respiratory mucosa protein:increased expression:lung, bronchioalveolar lavage fluid (rat)
RGD
PMID:19604272 PMID:16200865
RGD:4889104 , RGD:9068943
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il18
interleukin 18
ISO
protein:increased expression:serum protein:increased expression:sputum, macrophage
RGD
PMID:20026745 PMID:19208460
RGD:4889551 , RGD:4889575
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il18bp
interleukin 18 binding protein
ISO
protein:increased expression:serum
RGD
PMID:20026745
RGD:4889551
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
G
Il1b
interleukin 1 beta
no_association susceptibility severity
ISO
DNA:polymorphism: :-31T>C (human) DNA:polymorphisms: :-31T>C, 3954T>C (human) DNA:polymorphisms: :-31T>C, 3953T>C (human) DNA:polymorphisms: :-31T>C, -511C>T (human)
RGD
PMID:18364273 PMID:15766560 PMID:17380888 PMID:18579366
RGD:4142868 , RGD:4143169 , RGD:4142873 , RGD:4142866
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rl1
interleukin 1 receptor-like 1
ISO
mRNA:increased expression:lung:
RGD
PMID:19927353 PMID:30952808
RGD:5144227 , RGD:40400740
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Il1rn
interleukin 1 receptor antagonist
no_association susceptibility
ISO
DNA:polymorphism (human) protein:decreased expression:plasma DNA:polymorphism:intron (human)
RGD
PMID:18364273 PMID:19291375 PMID:18579366
RGD:4142868 , RGD:4142861 , RGD:4142866
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il27
interleukin 27
ISO
DNA:polymorphisms: :-964A>G, 2905T>G (human)
RGD
PMID:18554158
RGD:5128484
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
Il33
interleukin 33
ISO
mRNA,protein:increased expression:lung:
RGD
PMID:30952808
RGD:40400740
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:20858153
RGD:4890939
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
G
Il5ra
interleukin 5 receptor subunit alpha
ISO
protein:increased expression:serum
RGD
PMID:15286446
RGD:5128619
NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544
G
Il6
interleukin 6
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28864214 PMID:29329563 PMID:31349846 PMID:20819268
RGD:4143243
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Il9
interleukin 9
ISO
protein:increased expression:sputum, macrophage, cytoplasm
RGD
PMID:15303135
RGD:5128691
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:34331613
RGD:155663371
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
G
Kdr
kinase insert domain receptor
ISO
protein:increased expression:lung
RGD
PMID:15681497
RGD:5684420
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Klf5
KLF transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30639269
NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
G
Lcn1
lipocalin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28381600
NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577
G
Lep
leptin
severity
ISO
DNA:polymorphism:promoter: -2548 G>A (human) protein:decreased expression:serum protein:increased expression:plasma
RGD
PMID:20854423 PMID:20021311 PMID:21367591
RGD:5128777 , RGD:5128778 , RGD:5128772
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lepr
leptin receptor
disease_progression
ISO
protein:decreased expression:lung DNA:SNPs: :
RGD
PMID:19196818 PMID:19196818
RGD:5128813 , RGD:5128813
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Lrp1b
LDL receptor related protein 1B
susceptibility
ISO
associated with lung adenocarcinoma;DNA:mutations:multiple: (human)
RGD
PMID:28522810
RGD:150429784
NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
G
Map2k4
mitogen activated protein kinase kinase 4
severity
ISO
RGD
PMID:20699612
RGD:5490968
NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
G
Map3k7
mitogen activated protein kinase kinase kinase 7
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:34331613
RGD:155663371
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
G
Mapk8
mitogen-activated protein kinase 8
severity
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:20699612 PMID:34331613
RGD:5490968 , RGD:155663371
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
G
Mbl2
mannose binding lectin 2
ISO
DNA:polymorphisms:5' utr, exon:multiple (human) protein:decreased secretion:lung (human)
RGD
PMID:20688922 PMID:19411612
RGD:4889421 , RGD:4889448
NCBI chr 1:228,016,439...228,024,736
G
Mcam
melanoma cell adhesion molecule
ISO
RGD
PMID:23649916
RGD:7364780
NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
G
Mgst1
microsomal glutathione S-transferase 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 4:171,029,666...171,044,893
Ensembl chr 4:171,029,630...171,044,892
G
Mgst3
microsomal glutathione S-transferase 3
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr13:79,526,541...79,547,479
Ensembl chr13:79,526,541...79,547,411
G
Mif
macrophage migration inhibitory factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26752192
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
G
Mir126a
microRNA 126a
ISO
RNA:decreased expression:lung
RGD
PMID:36522710
RGD:401850545
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
G
Mir210
microRNA 210
disease_progression
ISO
associated with lung cancer;miRNA:decreased expression: peripheral blood (human) associated with cerebral infarction;miRNA:decreased expression: peripheral blood (human)
RGD
PMID:28745794 PMID:27906445
RGD:155598593 , RGD:155598676
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
G
Mir218-2
microRNA 218-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28864214
NCBI chr10:20,068,451...20,068,560
Ensembl chr10:20,068,451...20,068,560
G
Mmp1
matrix metallopeptidase 1
IEP ISO
mRNA:increased expression:bone (rat) ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, rate of decline of lung function in | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:9850057 PMID:11741975 PMID:11875051 PMID:18030675 PMID:25741868 PMID:28492532 PMID:23173262 More...
RGD:7207216
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Mmp14
matrix metallopeptidase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19661247
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
G
Mmp9
matrix metallopeptidase 9
treatment susceptibility severity
ISO IEP
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:polymorphism: :-1562C-->T (human) DNA:polymorphism:promoter:-1562C-->T (human)
CTD RGD
PMID:19299917 PMID:19411568 PMID:25842729 PMID:20160424 PMID:18619044
RGD:5129553 , RGD:13207319 , RGD:5129494 , RGD:5130149
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Mpo
myeloperoxidase
severity
IEP ISO
protein:increased activity:plasma protein:increased expression:serum
RGD
PMID:19491038 PMID:10917466
RGD:5130997 , RGD:5130993
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
G
Mtcl1
microtubule crosslinking factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28166215
NCBI chr 9:106,305,282...106,441,782
Ensembl chr 9:106,321,098...106,442,203
G
Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:sputum (human)
RGD
PMID:21474912
RGD:5131160
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
treatment
ISO IDA
mRNA, protein:increased expression:lung protein:increased expression:bronchi
RGD
PMID:17637221 PMID:22282955 PMID:19723147
RGD:4145655 , RGD:7349406 , RGD:5131190
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
G
Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
protein:increased expression:sputum
RGD
PMID:18776153
RGD:5131169
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
G
Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:17442289 PMID:12884528
RGD:4892219 , RGD:5131863
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
G
Nfe2l2
NFE2 like bZIP transcription factor 2
ISO IEP
protein:decreased expression:lung protein:increased expression:lung
RGD
PMID:18556627 PMID:22737924
RGD:5134980 , RGD:10412732
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
G
Nod2
nucleotide-binding oligomerization domain containing 2
severity
ISO
DNA:SNP:intron: (rs1077861) (human)
RGD
PMID:21943069
RGD:5508720
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Nos1
nitric oxide synthase 1
severity
ISO
protein:increased expression:skeletal muscle mRNA, protein:increased expression:lung
RGD
PMID:12816735 PMID:19797159
RGD:5132628 , RGD:5132607
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
G
Nos2
nitric oxide synthase 2
ISO
protein:increased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21843929 PMID:12797490
RGD:4891444
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21843929
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nqo1
NAD(P)H quinone dehydrogenase 1
treatment susceptibility
ISO IEP
protein, mRNA:decreased expression:lung DNA:polymorphisms: :465C>T, 609C>T (human)
RGD
PMID:18556627 PMID:28790194 PMID:19705749
RGD:5134980 , RGD:13439712 , RGD:5133267
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
G
Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
protein:decreased expression:lung, lymphocyte
RGD
PMID:20450542 PMID:9926163
RGD:4892318 , RGD:4892564
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
G
Ntf3
neurotrophin 3
ISO
mRNA:decreased expression:bronchus
RGD
PMID:15843147
RGD:4891120
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
protein:increased expression:bronchiolar epithelial cell
RGD
PMID:21429417
RGD:5684530
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
G
Plau
plasminogen activator, urokinase
severity
ISO IMP
proteine:increased expression:sputum, neutrophil
RGD
PMID:20624254 PMID:17651644
RGD:6483803 , RGD:6484146
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Plaur
plasminogen activator, urokinase receptor
IEP
protein:increased expression:bronchus
RGD
PMID:17651644
RGD:6484146
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
G
Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:16380766
RGD:8547571
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
G
Ppargc1a
PPARG coactivator 1 alpha
ISO
RGD
PMID:20732852
RGD:6484530
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
DNA:polymorphism: :g.-765G>C (human) protein:increased expression:sputum
RGD
PMID:21655952 PMID:15949313
RGD:5135277 , RGD:5143926
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
G
Rapgef3
Rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363678
NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:34331613
RGD:155663371
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
G
Rnasel
ribonuclease L
ISO
RGD
PMID:23913960
RGD:40902622
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
G
RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ISO
RGD
PMID:21423603
RGD:5143980
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
G
Rtel1
regulator of telomere elongation helicase 1
ameliorates
ISO
DNA:SNP:cds:rs4809324 (human)
RGD
PMID:28360516
RGD:152985694
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
G
Scgb1a1
secretoglobin family 1A member 1
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
G
Selp
selectin P
severity
ISO
protein:increased expression:plasma
RGD
PMID:20646456
RGD:6478682
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
G
Serpina1
serpin family A member 1
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:301355 PMID:1082356 PMID:1608473 PMID:1889260 PMID:2339709 PMID:2567291 PMID:2575668 PMID:2696185 PMID:2700304 PMID:2904702 PMID:2989709 PMID:3257660 PMID:3264419 PMID:3484754 PMID:3500183 PMID:3537008 PMID:3875547 PMID:6093867 PMID:6306478 PMID:6602622 PMID:7045697 PMID:7227484 PMID:8970361 PMID:9195389 PMID:9569237 PMID:10194472 PMID:11778003 PMID:12034572 PMID:14522813 PMID:15454649 PMID:15711957 PMID:15978931 PMID:15994391 PMID:16278826 PMID:16608528 PMID:17964515 PMID:18187064 PMID:18294358 PMID:18340647 PMID:18414213 PMID:18515255 PMID:18565211 PMID:18566672 PMID:19083091 PMID:19398551 PMID:19444872 PMID:19738092 PMID:19956452 PMID:20301692 PMID:20981092 PMID:21067581 PMID:21228398 PMID:21637600 PMID:21960536 PMID:22426792 PMID:22735536 PMID:22912729 PMID:22933512 PMID:22971141 PMID:22975760 PMID:23484243 PMID:23632999 PMID:23837941 PMID:23858502 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24328305 PMID:24428606 PMID:24518491 PMID:24592811 PMID:25181470 PMID:25454901 PMID:25579632 PMID:25637381 PMID:25738741 PMID:25741868 PMID:25966443 PMID:26141072 PMID:26243289 PMID:26304913 PMID:26310624 PMID:26647313 PMID:26672964 PMID:26771213 PMID:26831755 PMID:26987331 PMID:27153395 PMID:27246852 PMID:27465791 PMID:27535533 PMID:27959697 PMID:28146470 PMID:28492532 PMID:29083408 PMID:29153744 PMID:29232161 PMID:29431110 PMID:29618937 PMID:29644095 PMID:29882371 PMID:30068317 PMID:30068662 PMID:30254761 PMID:30585791 PMID:30739910 PMID:31028937 PMID:31216405 PMID:31447099 PMID:31564432 PMID:31980526 PMID:32087139 PMID:32699024 PMID:33144682 PMID:33726816 PMID:34408828 PMID:34408829 PMID:20298391 More...
RGD:4140387
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
G
Serpina3n
serine (or cysteine) peptidase inhibitor, clade A, member 3N
susceptibility
ISO
protein:increased expression:plasma ClinVar Annotator: match by term: ANTICHYMOTRYPSIN BONN 1 DNA:missense mutations:Cds:p.L55P, P229A DNA:polymorphism:exon:p.A-15T (human)
ClinVar RGD
PMID:1351206 PMID:8102759 PMID:8244391 PMID:25741868 PMID:17261175 PMID:8244391 PMID:10849024 More...
RGD:5147433 , RGD:5147449 , RGD:5147441
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
G
Serpine1
serpin family E member 1
ISO IEP
protein:increased expression:bronchus
RGD
PMID:11929177 PMID:17651644
RGD:4144041 , RGD:6484146
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Sftpa1
surfactant protein A1
susceptibility
ISO
protein:increased expression:lung DNA:SNP:cds:p.L50V (human) DNA:polymorphism:cds:c.186G>A (human)
RGD
PMID:19367700 PMID:19797132 PMID:11589345
RGD:4143288 , RGD:4143281 , RGD:4143423
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
G
Sftpb
surfactant protein B
susceptibility severity
ISO
DNA:polymorphism: :1580C>T (human) DNA:SNP: :p.T131I (rs1130866) (human) DNA:SNPs: :multiple (human)
RGD
PMID:15315329 PMID:15817713 PMID:11589345 PMID:18550614
RGD:4143402 , RGD:4143396 , RGD:4143423 , RGD:4143290
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
G
Sftpc
surfactant protein C
disease_progression
ISO
DNA:polymorphism: :186A>G (human)
RGD
PMID:18038590
RGD:4144115
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
G
Sftpd
surfactant protein D
susceptibility severity
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :p.A160T (human) DNA:SNPs: :multiple (human) protein:increased expression:serum
CTD RGD
PMID:28166215 PMID:18310480 PMID:19797132 PMID:20448057 PMID:20075511
RGD:4143501 , RGD:4143281 , RGD:4143487 , RGD:4143492
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
G
Slc6a4
solute carrier family 6 member 4
susceptibility
ISO
DNA:SNP: :rs2020936 (human)
RGD
PMID:20981038
RGD:4889426
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
G
Slpi
secretory leukocyte peptidase inhibitor
treatment
IEP
RGD
PMID:18375249
RGD:9999419
NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
G
Smad4
SMAD family member 4
treatment
IEP
RGD
PMID:18375249
RGD:9999419
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
G
Smpd3
sphingomyelin phosphodiesterase 3
IEP
protein:increased expression:lung:
RGD
PMID:20448054
RGD:10041059
NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
G
Sod3
superoxide dismutase 3
susceptibility
ISO
DNA:polymorphism: :p.R213G (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16399992 PMID:16467073 PMID:16399992
RGD:1581270 , RGD:1581270
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
G
Stat4
signal transducer and activator of transcription 4
IEP
protein:increased expression:lung
RGD
PMID:24321062
RGD:8661725
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
associated with Haemophilus Infections;mRNA, protein:increased expression:lung (mouse)
RGD
PMID:29421524
RGD:39128228
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
G
Tab2
TGF-beta activated kinase 1/MAP3K7 binding protein 2
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:34331613
RGD:155663371
NCBI chr 1:2,375,026...2,425,115
Ensembl chr 1:2,375,490...2,424,756
G
Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
G
Tgfb1
transforming growth factor, beta 1
no_association susceptibility
IMP ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :509C>T, 869T>C (human) DNA:SNP:exon:869T>C (human)
CTD RGD
PMID:16365456 PMID:31349846 PMID:18269849 PMID:19186046 PMID:20193474
RGD:4145292 , RGD:4145140 , RGD:4145115
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Timp1
TIMP metallopeptidase inhibitor 1
treatment
IEP
RGD
PMID:25842729
RGD:13207319
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
G
Tlr4
toll-like receptor 4
susceptibility
ISO
decreased expression:protein:monocyte ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset DNA:polymorphism:blood cells
ClinVar RGD
PMID:10835634 PMID:12124407 PMID:15547160 PMID:15829498 PMID:16879199 PMID:17704786 PMID:26079505 PMID:26174031 PMID:19080469 PMID:20169003 More...
RGD:4144145 , RGD:4144119
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tnf
tumor necrosis factor
no_association disease_progression
ISO
DNA:SNPs:promoter CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter DNA:polymorphism: :c. 489G>A (human) protein:increased expression:sputum protein:increased expression:serum DNA:SNP:promoter:c.-308 G>A (human) DNA;polymorphism: :rs361525 (human)
CTD RGD
PMID:15337792 PMID:29497291 PMID:34652871 PMID:20352242 PMID:11179116 PMID:12537602 PMID:8564092 PMID:20500811 PMID:15820084 PMID:20299531 More...
RGD:4143273 , RGD:4143424 , RGD:4143421 , RGD:4143270 , RGD:4143272 , RGD:4145714 , RGD:4143391
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf1a
TNF receptor superfamily member 1A
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:19643942
RGD:5131203
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
G
Tnfrsf1b
TNF receptor superfamily member 1B
severity
ISO
protein:increased expression:sputum (human)
RGD
PMID:21037022
RGD:5131154
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29984229
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29984229
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
G
Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18068611
NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
G
Tollip
toll interacting protein
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17274270
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21245013
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
G
Vegfa
vascular endothelial growth factor A
treatment
ISO IEP
protein:increased expression:lung
RGD
PMID:15681497 PMID:20705587
RGD:5684420 , RGD:10755705
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Xrcc5
X-ray repair cross complementing 5
susceptibility
ISO
DNA:SNPs:multiple (human)
RGD
PMID:20463177
RGD:8698653
NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:lung, macrophage (human)
RGD
PMID:21144722
RGD:5131112
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
G
Tnfrsf1b
TNF receptor superfamily member 1B
ISO
protein:increased expression:lung, lymphocyte (human)
RGD
PMID:21144722
RGD:5131112
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:exon:p.G54D(rs1800450)(human)
RGD
PMID:15249448
RGD:8693755
NCBI chr 1:228,016,439...228,024,736
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
protein:decreased expression:bronchiole epithelium
RGD
PMID:15364771
RGD:7364741
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
G
Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
DNA:insertion/deletion
RGD
PMID:15709052
RGD:7349353
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
G
Mucl3
mucin like 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22152429
NCBI chr20:3,100,652...3,108,569
Ensembl chr20:3,100,679...3,108,569
G
Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphisms:exon:
RGD
PMID:10323341
RGD:5147847
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
G
Ccl26
C-C motif chemokine ligand 26
severity
ISO
protein:increased expression:sputum (human)
RGD
PMID:25936567
RGD:11531115
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
G
Epx
eosinophil peroxidase
treatment
ISO
RGD
PMID:28751233
RGD:13506890
NCBI chr10:72,666,865...72,677,952
Ensembl chr10:72,666,865...72,677,952
G
Alox5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:10984370
RGD:4890423
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
G
Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, secretion (human)
RGD
PMID:19996575
RGD:4892021
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Tacr1
tachykinin receptor 1
ISO
RGD
PMID:8630576
RGD:5147837
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
G
Acsl3
acyl-CoA synthetase long-chain family member 3
ISO
RGD
PMID:23526225
RGD:13831300
NCBI chr 9:80,115,164...80,164,636
Ensembl chr 9:80,115,112...80,164,627
G
Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:29713367
RGD:13792581
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Cd86
CD86 molecule
treatment
ISO
RGD
PMID:25344652
RGD:11354965
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
G
Fas
Fas cell surface death receptor
treatment
IEP
RGD
PMID:29713367
RGD:13792581
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Faslg
Fas ligand
treatment
IEP
RGD
PMID:29713367
RGD:13792581
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
G
Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:19935773 PMID:26344076
RGD:5037240 , RGD:11251537
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
G
Ager
advanced glycosylation end product-specific receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33075463
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
G
Cdh17
cadherin 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25918132
NCBI chr 5:25,262,820...25,314,884
Ensembl chr 5:25,262,758...25,314,884
G
Herc2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25918132
NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
G
Pla2g4a
phospholipase A2 group 4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27504716
NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
G
Prkca
protein kinase C, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27504716
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
G
Prkd1
protein kinase D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27504716
NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
G
Ptgs1
prostaglandin-endoperoxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
G
RT1-A2
RT1 class Ia, locus A2
susceptibility
ISO
DNA:SNP: :rs1573294(human)
RGD
PMID:24709764
RGD:13506912
NCBI chr20:4,870,939...4,910,183
G
RT1-B
RT1 class II, locus B
susceptibility
ISO
DNA:SNP: : rs928976(human)
RGD
PMID:24709764
RGD:13506912
G
RT1-DOa
RT1 class II, locus DOa
treatment
ISO
DNA:SNP: :rs3128935(human)
RGD
PMID:24709764
RGD:13506912
NCBI chr20:4,753,587...4,756,590
Ensembl chr20:4,753,598...4,756,577
G
RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility
ISO
DNA:SNP: : rs928976(human)
RGD
PMID:24709764
RGD:13506912
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
G
RT1-S3
RT1 class Ib, locus S3
susceptibility
ISO
DNA:SNP: :rs1573294(human)
RGD
PMID:24709764
RGD:13506912
NCBI chr20:2,670,654...2,675,411
Ensembl chr20:2,670,709...2,675,411
G
Tenm3
teneurin transmembrane protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25918132
NCBI chr16:41,251,909...43,978,594
Ensembl chr16:41,252,182...43,978,594
G
Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25721048
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Pla2g7
phospholipase A2 group VII
ISO
ClinVar Annotator: match by term: Platelet-activating factor acetylhydrolase deficiency CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:8675689 PMID:9412624 PMID:10194471 PMID:10733466 PMID:16787988 PMID:25741868 PMID:28406212 More...
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:20935231
RGD:5686887
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Ager
advanced glycosylation end product-specific receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30659203
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
G
Alb
albumin
ISO
RGD
PMID:24365562
RGD:11035274
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
G
Bloc1s6
biogenesis of lysosomal organelles complex 1 subunit 6
ISS
OMIM:130700
MouseDO
NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
G
Ccl11
C-C motif chemokine ligand 11
disease_progression
ISO
associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:lung
RGD
PMID:17983873
RGD:4145393
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
G
Ccl2
C-C motif chemokine ligand 2
disease_progression
ISO
associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:sputum
RGD
PMID:20966041
RGD:4891458
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccr5
C-C motif chemokine receptor 5
ISO
mRNA, protein:increased expression:lung (mouse) protein:increased expression:lung, lymphocyte (human)
RGD
PMID:16284650 PMID:15526056 PMID:17883726
RGD:4892098 , RGD:4892104 , RGD:4892090
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Chi3l1
chitinase 3 like 1
ISO
RGD
PMID:20656949
RGD:4892658
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
G
Clptm1l
CLPTM1-like
severity
ISO
associated with smoking; DNA:SNP:intron:rs31489(human)
RGD
PMID:21622582
RGD:150530642
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
G
Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:19537526
RGD:11039438
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
G
Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:18772344
RGD:4891888
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
mRNA:increased expression:lung
RGD
PMID:17023518
RGD:5135245
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:lung, lymphocyte
RGD
PMID:15526056
RGD:4892104
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cxcl3
C-X-C motif chemokine ligand 3
ISO
mRNA:increased expression:lung
RGD
PMID:17023518
RGD:5135245
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
G
Cxcl6
C-X-C motif chemokine ligand 6
ISO
mRNA:increased expression:lung
RGD
PMID:17023518
RGD:5135245
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:lung, lymphocyte
RGD
PMID:15526056
RGD:4892104
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:15526056
RGD:4892104
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
G
Defb1
defensin beta 1
ISO
mRNA:decreased expression:lung
RGD
PMID:18699806
RGD:4892249
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
G
Ednra
endothelin receptor type A
IMP
RGD
PMID:19897563
RGD:4892307
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
G
Egr1
early growth response 1
resistance
ISO
mRNA, protein:increased expression:lung (human) associated with Tobacco Use Disorder;protein:increased expression:lung, epithelial cell (mouse)
RGD
PMID:11021835 PMID:16601242 PMID:18830406
RGD:5131973 , RGD:5131892 , RGD:5131853
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
G
Elane
elastase, neutrophil expressed
IMP
RGD
PMID:12186827
RGD:10450557
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
G
Eln
elastin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25106431
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
G
Ephx1
epoxide hydrolase 1
no_association susceptibility
ISO
associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human) DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) DNA:SNP:exon:p.Y113H (rs1051740) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9288046 PMID:20525719 PMID:10853854 PMID:9288046 PMID:12579334
RGD:4140935 , RGD:4889406 , RGD:1601065 , RGD:4889405
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
G
Fga
fibrinogen alpha chain
IEP
protein:increased expression:plasma (rat)
RGD
PMID:20949089
RGD:11040553
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
G
Fstl1
follistatin-like 1
ISS
OMIM:130700
MouseDO
NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
G
Fut8
fucosyltransferase 8
ISS
OMIM:130700
MouseDO
NCBI chr 6:95,949,246...96,176,677
Ensembl chr 6:95,949,991...96,176,677
G
Gclc
glutamate-cysteine ligase, catalytic subunit
IDA
RGD
PMID:19879314
RGD:5134681
NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:20495862
RGD:4140927
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstm3
glutathione S-transferase mu 3
ISO
RGD
PMID:19723343
RGD:5135041
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
G
Gstm5
glutathione S-transferase, mu 5
ISO
RGD
PMID:19723343
RGD:5135041
NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
G
Gstp1
glutathione S-transferase pi 1
ISO
associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP (human)
RGD
PMID:20525719
RGD:4140935
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Hdac2
histone deacetylase 2
treatment
IEP ISO
mRNA,proetin:increased expression,increased activity,hyperphosphorylation,hypercarbonylation:lung:
RGD
PMID:23326540 PMID:24040961
RGD:9590245 , RGD:9590320
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
G
Hhip
Hedgehog-interacting protein
ISO
DNA:haplotype insufficiency: :
RGD
PMID:25763110
RGD:11552596
NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
G
Hmox1
heme oxygenase 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10631150 PMID:10631150
RGD:1601606
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Il13
interleukin 13
ISO
RGD
PMID:11067861
RGD:4145652
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il17ra
interleukin 17 receptor A
ISO
RGD
PMID:21647421
RGD:5144212
NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
G
Il18
interleukin 18
ISO IEP
mRNA, protein:increased expression:respiratory system fluid/secretion, macrophage
RGD
PMID:17400729 PMID:23392573
RGD:4889590 , RGD:8655969
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
associated with common cold;
RGD
PMID:30952808
RGD:40400740
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Itgb6
integrin subunit beta 6
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:130700
CTD MouseDO RGD
PMID:12634787 PMID:12634787
RGD:737734
NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISS
OMIM:130700
MouseDO
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
G
Keap1
Kelch-like ECH-associated protein 1
onset
ISO
protein:increased expression:lung (human)
RGD
PMID:18559366 PMID:19520915
RGD:5134973 , RGD:6893395
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
G
Kl
Klotho
ISS
OMIM:130700
MouseDO
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
G
Lox
lysyl oxidase
ISO
ClinVar Annotator: match by term: Pulmonary emphysema
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
G
Mmp1
matrix metallopeptidase 1
ISO
DNA:insertion:promoter:g.-1607insG rs1799750 (human)
RGD
PMID:17363767
RGD:4890375
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Mmp12
matrix metallopeptidase 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12634787 PMID:25106431
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
G
Mmp2
matrix metallopeptidase 2
IEP ISO
protein:increased activity:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25106431 PMID:19897563
RGD:4892307
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp9
matrix metallopeptidase 9
treatment
IEP ISO
protein:increased activity:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25106431 PMID:19897563 PMID:18408070 PMID:14605041
RGD:4892307 , RGD:5130151 , RGD:8547887
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Mus81
MUS81 structure-specific endonuclease subunit
ISS
OMIM:130700
MouseDO
NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
G
Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
protein:decreased expression:lung:
RGD
PMID:18559366
RGD:5134973
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
G
Nfkbia
NFKB inhibitor alpha
treatment
IDA
RGD
PMID:20472710
RGD:4891488
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Nos2
nitric oxide synthase 2
IEP ISO
protein:increased expression:lung mRNA,protein:increased expression:lung
RGD
PMID:20472710 PMID:20956973 PMID:22000010
RGD:4891488 , RGD:4891415 , RGD:5509103
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Nos3
nitric oxide synthase 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20956973
RGD:4891415
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
mRNA:decreased expression:lung
RGD
PMID:18559366
RGD:5134973
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
G
Pgf
placental growth factor
ISO
mRNA, protein:increased expression:lung, plasma
RGD
PMID:17023518
RGD:5135245
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
G
Ppargc1a
PPARG coactivator 1 alpha
ISO
RGD
PMID:23144332
RGD:7242020
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
RGD
PMID:20472710
RGD:4891488
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
G
Ptma
prothymosin alpha
ISS
OMIM:130700
MouseDO
NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333
G
Scnn1b
sodium channel epithelial 1 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27982104
NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
G
Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:3485249 PMID:21030517 PMID:19941265
RGD:4892126 , RGD:4892125
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
G
Sftpc
surfactant protein C
susceptibility
ISO
DNA:polymorphism: :138A>C, 186A>G (human)
RGD
PMID:18038590
RGD:4144115
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
G
Smo
smoothened, frizzled class receptor
ISS
OMIM:130700
MouseDO
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
G
Smpd3
sphingomyelin phosphodiesterase 3
ISO
protein:increased expression:lung:
RGD
PMID:20448054
RGD:10041059
NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
G
Srfbp1
serum response factor binding protein 1
ISO
ClinVar Annotator: match by term: Pulmonary emphysema
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515
G
Tacr1
tachykinin receptor 1
ISO
RGD
PMID:19445658
RGD:5147818
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
G
Tgfb1
transforming growth factor, beta 1
severity
ISO
associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs:promoter:rs1800469, rs1982073 (human) CTD Direct Evidence: therapeutic
CTD RGD
PMID:12634787 PMID:18670143
RGD:4145272
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tlr2
toll-like receptor 2
ISO
protein:increased expression:alveolar macrophage
RGD
PMID:18399852
RGD:4145342
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
ISO ISS
OMIM:130700
MouseDO RGD
PMID:17053835
RGD:4144170
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25106431
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Ifng
interferon gamma
resistance
ISO
RGD
PMID:20817868
RGD:4145651
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il1b
interleukin 1 beta
ISO
protein:increased expression:lung
RGD
PMID:9927362
RGD:4143184
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il5
interleukin 5
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:10934091
RGD:4890960
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
G
Mpo
myeloperoxidase
ISO
protein:increased expression:serum
RGD
PMID:10731862
RGD:5130994
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
G
Adam33
ADAM metallopeptidase domain 33
susceptibility
ISO
DNA:SNP: :rs2787094 c.2891G>C (human)
RGD
PMID:19258923
RGD:4142862
NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461
G
Bcl2
BCL2, apoptosis regulator
severity
ISO
protein:increased expression:natural killer cell, T cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Bcl2l1
Bcl2-like 1
severity
ISO
protein:increased expression:natural killer cell,t cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
G
C3
complement C3
resistance
ISO
RGD
PMID:19258923 PMID:12235218
RGD:4142862 , RGD:5129513
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
Casp1
caspase 1
ISO
RGD
PMID:15196254
RGD:5130189
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
G
Cat
catalase
ISO
protein:decreased expression:nasal mucus
RGD
PMID:21471094
RGD:5130770
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
G
Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
protein:increased secretion:serum (human) DNA:snp:5' utr:g.-28C>G (human)
RGD
PMID:19005677 PMID:19099677
RGD:4891884 , RGD:4891881
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Cd14
CD14 molecule
ISO
DNA:polymorphism:promoter:c.-550C>T (human)
RGD
PMID:17471431
RGD:4144210
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
G
Cd274
CD274 molecule
treatment
ISO
mRNA:increased expression:lung
RGD
PMID:22797302 PMID:22797302
RGD:40818270 , RGD:40818270
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
G
Csf2
colony stimulating factor 2
ISO
protein:increased expression:nasal mucus
RGD
PMID:20088864
RGD:4143440
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
DNA:SNP: :p.T280M (human)
RGD
PMID:18257903 PMID:16645504
RGD:4891891 , RGD:4891905
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
G
Cxcl10
C-X-C motif chemokine ligand 10
IEP ISO
mRNA:increased expression:lung protein:increased expression:plasma
RGD
PMID:12909590 PMID:20561238
RGD:2311388 , RGD:5135493
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:20561238
RGD:5135493
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
G
Fas
Fas cell surface death receptor
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Flt3
Fms related receptor tyrosine kinase 3
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
G
Ifnl1
interferon, lambda 1
exacerbates
ISO
associated with respiratory syncytial virus infectious disease;mRNA:increased expression:mucosa of nasopharynx (human)
RGD
PMID:24389019
RGD:126848743
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
G
Il15
interleukin 15
severity
ISO
mRNA,protein:increased expression:peripheral blood mononuclear cell,serum,dendritic cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
G
Il17a
interleukin 17A
susceptibility
ISO
DNA:SNP: :rs7747909(human)
RGD
PMID:17703412
RGD:4889847
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
DNA:SNP: :c.390T>C (rs315952) (human)
RGD
PMID:19258923
RGD:4142862
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il33
interleukin 33
ISO
protein:increased expression:nasal mucus
RGD
PMID:28471975
RGD:38596342
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Il4r
interleukin 4 receptor
susceptibility
ISO
associated with respiratory syncystial virus infection; DNA:polymorphism:cds:p. Q551R (human) DNA:SNPs: :rs1805011,rs2057768 (human)
RGD
PMID:12508140 PMID:20404812 PMID:17703412
RGD:4890022 , RGD:4889996 , RGD:4889847
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
G
Il6
interleukin 6
ISO
mRNA, protein:increased expression:respiratory system fluid/secretion
RGD
PMID:14738241
RGD:5128668
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Il9
interleukin 9
ISO
RGD
PMID:15051283
RGD:5128692
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
G
Jak3
Janus kinase 3
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
G
Klrk1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNP,haplotypes:3'utr: (rs10772271) (human)
RGD
PMID:29967528
RGD:39128159
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
G
Mpo
myeloperoxidase
ISO
RGD
PMID:7841728
RGD:5130995
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
G
Muc1
mucin 1, cell surface associated
severity
ISO
protein:increased expression:serum
RGD
PMID:19856476
RGD:5131164
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
G
Nfkbia
NFKB inhibitor alpha
susceptibility
ISO
associated with respiratory syncytial virus infectious disease;DNA:SNP:promoter: (rs2233406) (human)
RGD
PMID:23487427
RGD:40902982
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Nos2
nitric oxide synthase 2
susceptibility
ISO
DNA:SNP: :rs1060826(human)
RGD
PMID:17703412
RGD:4889847
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Pdcd1
programmed cell death 1
ISO
protein:increased expression:CD8 T cell
RGD
PMID:22797302
RGD:40818270
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
G
Postn
periostin
ISO
mRNA,protein:increased expression:nasal mucus
RGD
PMID:28471975
RGD:38596342
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
G
Stat5a
signal transducer and activator of transcription 5A
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
G
Tlr4
toll-like receptor 4
ISO
protein:increased expression:monocyte protein:decreased expression:neutrophil
RGD
PMID:14738455 PMID:19497921
RGD:4144819 , RGD:4144183
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tlr5
toll-like receptor 5
susceptibility
ISO
DNA:snp:cds:p.F616L rs5744174 (human)
RGD
PMID:19258923
RGD:4142862
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
G
Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP: :rs1799724(human) DNA:polymorphism:promoter: c. -308A>G (human) protein:increased expression:nasal lavage fluid
RGD
PMID:17703412 PMID:19849941 PMID:20088864
RGD:4889847 , RGD:4143441 , RGD:4143440
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf10b
TNF receptor superfamily member 10b
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
G
Tslp
thymic stromal lymphopoietin
severity
ISO
mRNA, protein:increased expression:nasal mucus (human)
RGD
PMID:28471975
RGD:38596342
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
G
Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNP (human) DNA:SNP: :rs10735810 (human)
RGD
PMID:18266602 PMID:17703412
RGD:4889843 , RGD:4889847
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all