bronchial disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	bronchial disease	go back to main search page
Accession:	DOID:1176	browse the term
Definition:	A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. (DO)
Synonyms:	exact_synonym:	bronchial diseases
	primary_id:	MESH:D001982
	xref:	EFO:1002018
For additional species annotation, visit the Alliance of Genome Resources.

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Rat (1019) Mouse (1021) Human (8123) Chinchilla (909) Bonobo (975) Dog (992) Squirrel (925) Pig (979) Green Monkey (953) Naked Mole-rat (896) All
Genes (1017) Strains (2)

bronchial disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 28

Allergic Airway Disease

RGD

NCBI chr 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

tachykinin receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733

G

tachykinin receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:30,208,907...30,223,446
Ensembl chr20:30,208,907...30,223,446

allergic asthma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 26

treatment

RGD

NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335

G

cysteinyl leukotriene receptor 1

treatment

RGD

NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121

G

eosinophil peroxidase

protein:increased expression:urine:

RGD

NCBI chr10:72,666,865...72,677,952
Ensembl chr10:72,666,865...72,677,952

G

interleukin 25

treatment

RGD

NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893

G

RT1 class II, locus B

susceptibility

DNA:polymorphism:

RGD

G

RT1 class II, locus Db1

susceptibility

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus Ha

susceptibility

DNA:polymorphism:

RGD

NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244

G

RT1 class II, locus Hb, pseudogene 1

susceptibility

DNA:polymorphism:

NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618

G

triggering receptor expressed on myeloid cells 1

exacerbates

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

aspirin-induced respiratory disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel auxiliary subunit gamma 6

susceptibility

DNA:SNP,haplotype:rs192808(human)

RGD

NCBI chr 1:65,732,910...65,747,377
Ensembl chr 1:65,732,632...65,747,341

G

C-C motif chemokine receptor 3

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20485159 PMID:20022477

NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990

G

cysteinyl leukotriene receptor 1

CTD Direct Evidence: marker/mechanism

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

cysteinyl leukotriene receptor 2

DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16502481 PMID:20485159 PMID:15970796

NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136

G

FA complementation group C

DNA:haplotype::rs4647416(human)

RGD

NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376

G

interleukin 4

susceptibility

DNA:SNPs:promoter,5'UTR,intron:multiple

RGD

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

leukotriene C4 synthase

CTD Direct Evidence: marker/mechanism

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

membrane spanning 4-domains A2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310

G

periostin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099

G

prostaglandin D2 receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213

G

prostaglandin E receptor 2

ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to
CTD Direct Evidence: marker/mechanism

PMID:15496426 PMID:16502481

NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714

G

prostaglandin I2 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:77,579,596...77,581,979
Ensembl chr 1:77,579,596...77,581,979

G

prostaglandin-endoperoxide synthase 2

protein:increased expression:mast cell
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16502481 PMID:20485159 PMID:9487340

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

RT1 class II, locus Ba

susceptibility

RGD

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

susceptibility

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus Hb, pseudogene 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618

G

transporter 2, ATP binding cassette subfamily B member

RGD

NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407

G

T-box transcription factor 21

ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to
CTD Direct Evidence: marker/mechanism

PMID:15806396 PMID:16502481

NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831

G

thromboxane A2 receptor

susceptibility

DNA:polymorphism: :795T>C (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16502481 PMID:20485159 PMID:15898979

NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176

asthma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

protein:increased expression:blood, lymphocyte

RGD

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

ATP binding cassette subfamily C member 1

RGD

NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114

G

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

no_association

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

angiotensin I converting enzyme

susceptibility

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

acyl-CoA synthetase long-chain family member 3

DNA:hypermethylation:promoter

RGD

NCBI chr 9:80,115,164...80,164,636
Ensembl chr 9:80,115,112...80,164,627

G

adenosine deaminase

susceptibility

DNA:polymorphisms (human)

RGD

NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088

G

ADAM metallopeptidase domain 33

susceptibility
no_association
disease_progression

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 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

ADAM metallopeptidase domain 8

severity

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

adenylate cyclase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:34,375,639...34,822,252
Ensembl chr 1:34,375,895...34,822,236

G

ADCYAP receptor type I

CTD Direct Evidence: marker/mechanism

NCBI chr 4:84,593,558...84,642,700
Ensembl chr 4:84,593,892...84,642,700

G

alcohol dehydrogenase 5 (class III), chi polypeptide

susceptibility

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

adiponectin, C1Q and collagen domain containing

RGD

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

adenosine A1 receptor

DNA:SNPs: :1405C>T (human)
protein:increased expression:bronchus

RGD

PMID:19019667 PMID:20400685 PMID:17959644

RGD:4890386, RGD:4145444, RGD:5129097

NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801

G

adenosine A2a receptor

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

adrenoceptor beta 2

susceptibility

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)

PMID:8383511 PMID:15284533 PMID:16596417 PMID:1655856 PMID:15118671 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

advanced glycosylation end product-specific receptor

treatment
onset

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

angiotensin II receptor, type 1a

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

angiotensin II receptor, type 2

mRNA, protein:increased expression:lung

RGD

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

aldehyde dehydrogenase 2 family member

CTD Direct Evidence: marker/mechanism

PMID:9600491 PMID:11506308 PMID:15118671

NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521

G

arachidonate 15-lipoxygenase

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

arachidonate 5-lipoxygenase

no_association
treatment
severity

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)

PMID:20128419 PMID:9642160 PMID:12911785 PMID:8879219 PMID:11035107 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

arachidonate 5-lipoxygenase activating protein

susceptibility
no_association

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 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

alpha-1-microglobulin/bikunin precursor

protein:increased expression:serum

RGD

NCBI chr 5:76,568,094...76,578,416
Ensembl chr 5:76,568,094...76,578,331

G

angiogenin

severity

protein:increased expression:sputum

RGD

NCBI chr15:24,312,711...24,323,361

G

annexin A1

RGD

NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343

G

amphiregulin

CTD Direct Evidence: marker/mechanism

NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535

G

arginase 1

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

arginase 2

severity
susceptibility

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, apoptosis regulator

CTD Direct Evidence: marker/mechanism

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

bradykinin receptor B2

onset

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

brain-derived neurotrophic factor

susceptibility
severity

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 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

bone gamma-carboxyglutamate protein

CTD Direct Evidence: marker/mechanism

NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495

G

bone morphogenetic protein receptor type 1B

protein:decreased expression:bronchus

RGD

NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368

G

bone morphogenetic protein receptor type 2

protein:decreased expression:bronchus

RGD

NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809

G

complement C3

severity

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 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

complement C3a receptor 1

severity

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

complement C5

severity

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

complement C5a receptor 1

severity

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

caspase recruitment domain family, member 11

susceptibility

ClinVar Annotator: match by term: Asthma

PMID:18323416 PMID:23027925 PMID:23129749 PMID:25352053 PMID:25741868 More...

NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112

G

coactivator-associated arginine methyltransferase 1

mRNA:decreased expression:lung

RGD

NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689

G

caspase 1

protein:increased expression:serum

RGD

NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383

G

catalase

severity

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

C-C motif chemokine ligand 1

protein:increased expression:respiratory system fluid/secretion

RGD

NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159

G

C-C motif chemokine ligand 11

treatment
susceptibility
severity

protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.A23T (human)
mRNA:increased expression:lung

PMID:16304252 PMID:22932891 PMID:17074272 PMID:9034156 PMID:17845580 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

C-C motif chemokine ligand 17

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

C-C motif chemokine ligand 19

protein:increased expression:bronchus submucosa, mast cell

RGD

NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308

G

C-C motif chemokine ligand 2

severity
treatment

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 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

C-C motif chemokine ligand 20

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

C-C motif chemokine ligand 22

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

C-C motif chemokine ligand 24

susceptibility

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 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

C-C motif chemokine ligand 26

treatment

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

C-C motif chemokine ligand 27

NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506

G

C-C motif chemokine ligand 28

mRNA:increased expression:lung (mouse)

RGD

NCBI chr 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997

G

C-C motif chemokine ligand 4

RGD

NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231

G

C-C motif chemokine ligand 5

susceptibility

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

C-C motif chemokine ligand 7

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

C-C motif chemokine receptor 1

severity

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

C-C motif chemokine receptor 2

susceptibility

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

C-C motif chemokine receptor 3

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 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

C-C motif chemokine receptor 4

mRNA:increased expression:lung

RGD

NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056

G

C-C motif chemokine receptor 5

no_association

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

C-C motif chemokine receptor 6

protein:increased expression:lung, dendritic cell (mouse)

RGD

NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603

G

C-C motif chemokine receptor 7

protein:increased expression:lung, dendritic cell (mouse)

RGD

NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309

G

C-C motif chemokine receptor 8

mRNA:increased expression:lung

RGD

NCBI chr 8:119,826,332...119,828,292
Ensembl chr 8:119,826,568...119,827,629

G

C-C motif chemokine receptor 9

mRNA, protein:increased expression:blood, mature NK T cell

RGD

NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969

G

CD14 molecule

severity
no_association
susceptibility

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 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 molecule

susceptibility

associated with fasciolopsiasis

RGD

NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089

G

CD209c molecule

RGD

NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040

G

CD209d molecule

NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171

G

CD274 molecule

treatment

associated with Chlamydia pneumonia

RGD

NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450

G

Cd28 molecule

RGD

NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

CD40 molecule

treatment

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

CD40 ligand

severity

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

Cd80 molecule

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 molecule

treatment

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 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

cadherin 1

RGD

NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775

G

cadherin-related family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:49,641,833...49,702,016
Ensembl chr 6:49,641,813...49,702,017

G

CF transmembrane conductance regulator

susceptibility

DNA:deletion: :F508del(human)

RGD

NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756

G

choline O-acetyltransferase

Protein:decreased expression:lung epithelium

RGD

NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093

G

chitinase 3 like 1

susceptibility

human gene in mouse model
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)

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

chitinase, acidic

no_association

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

CHM like Rab escort protein

RGD

NCBI chr13:87,609,647...87,619,868
Ensembl chr13:87,589,298...87,619,862

G

cholinergic receptor, muscarinic 1

RGD

NCBI chr 1:205,567,226...205,583,001
Ensembl chr 1:205,567,220...205,582,356

G

cholinergic receptor, muscarinic 2

DNA:SNP: :rs6962027 (human)

RGD

NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103

G

cholinergic receptor, muscarinic 3

severity

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

component of inhibitor of nuclear factor kappa B kinase complex

RGD

NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065

G

chloride channel accessory 1

susceptibility

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

claudin 18

CTD Direct Evidence: marker/mechanism

NCBI chr 8:100,246,499...100,265,797
Ensembl chr 8:100,247,633...100,273,351

G

chymase 1

severity
susceptibility
no_association

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

corticotropin releasing hormone receptor 1

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

corticotropin releasing hormone receptor 2

DNA:SNPs: :multiple (human)

RGD

NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904

G

C-reactive protein

protein:increased expression:serum

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

colony stimulating factor 2

severity

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

colony stimulating factor 2 receptor subunit beta

RGD

NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157

G

colony stimulating factor 3

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

cytotoxic T-lymphocyte-associated protein 4

severity
treatment
no_association

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 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

catenin alpha 3

CTD Direct Evidence: marker/mechanism

NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978

G

C-X3-C motif chemokine ligand 1

protein:increased expression:plasma

RGD

NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833

G

C-X3-C motif chemokine receptor 1

no_association

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

C-X-C motif chemokine ligand 1

severity

RGD

NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215

G

C-X-C motif chemokine ligand 10

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

C-X-C motif chemokine ligand 14

CTD Direct Evidence: marker/mechanism

NCBI chr17:8,317,930...8,325,956
Ensembl chr17:8,317,933...8,324,839

G

C-X-C motif chemokine ligand 2

mRNA:increased expression:lung

RGD

NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075

G

C-X-C motif chemokine ligand 3

severity

NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511

G

C-X-C motif chemokine ligand 6

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

C-X-C motif chemokine ligand 9

RGD

NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435

G

C-X-C motif chemokine receptor 3

susceptibility
severity

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

cytochrome b-245 alpha chain

susceptibility

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

cytochrome P450, family 1, subfamily a, polypeptide 1

mRNA, protein:increased expression, decreased activity:lung

RGD

NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125

G

cytochrome P450, family 2, subfamily d, polypeptide 4

DNA:polymorphism: :1934G>A (human)

NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759

G

cytochrome P450, family 2, subfamily e, polypeptide 1

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

cysteinyl leukotriene receptor 1

no_association
severity

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 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

cysteinyl leukotriene receptor 2

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

decorin

RGD

NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270

G

defensin beta 1

susceptibility

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

dynein, axonemal, heavy chain 5

CTD Direct Evidence: marker/mechanism

NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890

G

DNA methyltransferase 1

DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract:
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23423710 PMID:23196709

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

dipeptidyl peptidase like 10

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

Epstein-Barr virus induced 3

RGD

NCBI chr 9:774,252...787,544
Ensembl chr 9:783,617...787,544

G

endothelin 1

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

endothelin receptor type A

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

endothelin receptor type B

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

epidermal growth factor receptor

severity

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

early growth response 1

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

elongator acetyltransferase complex subunit 1

no_association

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

epoxide hydrolase 1

susceptibility

DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)

RGD

NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235

G

eosinophil peroxidase

severity
disease_progression

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

estrogen receptor 2

mRNA:decreased expression:lung (rat)

RGD

NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919

G

coagulation factor II, thrombin

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

F2R like trypsin receptor 1

RGD

NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226

G

coagulation factor VII

treatment

RGD

NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610

G

Fas cell surface death receptor

mRNA:increased expression:eosinophil

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

Fc epsilon receptor Ia

severity

Asthma symptoms persistent despite steroids in humans
Fatal asthma subjects

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

Fc gamma receptor 2A

protein:increased expression:alveolar macrophage

RGD

NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967

G

Fc gamma receptor 2B

RGD

NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778

G

Fc gamma receptor 3A

susceptibility

DNA:polymorphism:exon:p.F158V(rs396991)(human)

RGD

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

fibrinogen alpha chain

treatment

RGD

NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528

G

FKBP prolyl isomerase 5

ClinVar Annotator: match by term: Asthma

NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674

G

forkhead box P3

treatment

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

GATA binding protein 3

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, vitamin D binding protein

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

glutathione S-transferase alpha 1

susceptibility

DNA:polymorphism:promoter: -69C>T (human)

RGD

NCBI chr 9:23,703,476...23,720,121
Ensembl chr 9:23,703,477...23,720,121

G

glutathione S-transferase mu 1

resistance
susceptibility

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

glutathione S-transferase mu 3

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

glutathione S-transferase, mu 5

DNA:polymorphism

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

glutathione S-transferase omega 2

susceptibility

DNA:polymorphism:exon:p. N142D (human)

RGD

NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866

G

glutathione S-transferase pi 1

severity
susceptibility
disease_progression
no_association

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 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

glutathione S-transferase theta 1

susceptibility

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

hepatitis A virus cellular receptor 1

RGD

NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698

G

hepatitis A virus cellular receptor 2

RGD

NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137

G

histone deacetylase 2

mRNA:decreased expression:macrophage:

RGD

NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609

G

histidine decarboxylase

associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human)

RGD

NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341

G

hypoxia inducible factor 1 subunit alpha

treatment

RGD

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

3-hydroxy-3-methylglutaryl-CoA reductase

RGD

NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703

G

heme oxygenase 1

severity

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

histamine N-methyltransferase

no_association
susceptibility

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 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

haptoglobin

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

hydroxysteroid 11-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899

G

5-hydroxytryptamine receptor 2A

CTD Direct Evidence: marker/mechanism

NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928

G

intercellular adhesion molecule 1

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

interferon gamma

treatment
resistance

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

interferon gamma receptor 1

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

interferon, lambda 1

exacerbates

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

interferon, lambda 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096

G

IKAROS family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591

G

interleukin 10

treatment
susceptibility

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 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

interleukin 12A

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

interleukin 12B

severity
susceptibility

DNA:polymorphisms:introns:
ClinVar Annotator: match by term: Asthma, susceptibility to
DNA:polymorphisms:promoter, 3'utr:
DNA:polymorphism:promoter

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

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 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

interleukin 13 receptor subunit alpha 1

no_association

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 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

interleukin 13 receptor subunit alpha 2

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

interleukin 15

no_association

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

interleukin 16

no_association
severity

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

interleukin 17A

susceptibility

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

interleukin 17 receptor B

associated with Picornaviridae Infections

RGD

NCBI chr16:5,180,431...5,194,125
Ensembl chr16:5,180,432...5,194,125

G

interleukin 18

severity
susceptibility
disease_progression

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 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

interleukin 18 receptor 1

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

interleukin 19

protein:increased expression:serum

RGD

NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473

G

interleukin 1 alpha

DNA:polymorphisms: :

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

susceptibility

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

interleukin 1 receptor-like 1

susceptibility
severity

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 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

interleukin 1 receptor antagonist

susceptibility
severity

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 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

interleukin 2

susceptibility

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

interleukin 21

DNA:SNP:exon:5250C>T (human)

RGD

NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996

G

interleukin 22

treatment
severity

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

interleukin 23 receptor

RGD

NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 25

mRNA, protein:increased expression:lung

RGD

NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893

G

interleukin 27

susceptibility
treatment

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

interleukin 27 receptor subunit alpha

RGD

NCBI chr19:24,109,963...24,121,977
Ensembl chr19:24,109,972...24,121,938

G

interleukin 2 receptor subunit alpha

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

interleukin 2 receptor subunit beta

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

interleukin 3

susceptibility

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

interleukin 33

treatment
severity

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 More...

RGD:39939002, RGD:39938968

NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373

G

interleukin 4

treatment
no_association

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 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

interleukin 4 receptor

susceptibility
severity
disease_progression

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)

PMID:19770271 PMID:17823973 PMID:18425216 PMID:12133990 PMID:20868478 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

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 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

interleukin 5 receptor subunit alpha

DNA:SNP: :c.25091G>A (human)
DNA:SNPs (human)

RGD

PMID:20513521 PMID:20592918 PMID:17276963 PMID:10848907 PMID:10224351 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

interleukin 6

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

interleukin 6 receptor

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

interleukin 9

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

interleukin 9 receptor

RGD

NCBI chr10:15,431,706...15,444,144
Ensembl chr10:15,431,706...15,441,990

G

interleukin-1 receptor-associated kinase 3

susceptibility

ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5

NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121

G

interferon regulatory factor 1

no_association
susceptibility

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

interferon regulatory factor 3

RGD

NCBI chr 1:95,479,966...95,484,926
Ensembl chr 1:95,479,821...95,484,935

G

integrin subunit beta 3

DNA:SNPs: :

RGD

NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

G

integrin subunit beta 6

OMIM:600807

NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671

G

inositol 1,4,5-trisphosphate receptor, type 1

RGD

NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491

G

kinase insert domain receptor

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

kinesin family member 3a

CTD Direct Evidence: marker/mechanism

NCBI chr10:37,725,930...37,761,183
Ensembl chr10:37,725,970...37,759,191

G

keratin 19

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799

G

leptin

protein:increased expression:plasma

RGD

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

galectin 3

treatment

RGD

NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025

G

lymphotoxin alpha

susceptibility
no_association

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

leukotriene A4 hydrolase

mRNA:increased expression:lung, cerebral cortex (rat)

RGD

NCBI chr 7:27,969,796...28,001,600
Ensembl chr 7:27,969,789...28,001,600

G

mannose binding lectin 2

susceptibility

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 innate immunity regulator, pyrin

susceptibility

DNA:mutations:exons

RGD

NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973

G

macrophage migration inhibitory factor

severity

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
Ensembl chr 4:12,790,902...12,799,504

G

matrix metallopeptidase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 10

CTD Direct Evidence: marker/mechanism

NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748

G

matrix metallopeptidase 9

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 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

myeloperoxidase

susceptibility

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

membrane spanning 4-domains A2

susceptibility

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

methylenetetrahydrofolate reductase

DNA:transition:cds:g.677C>T (human)

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

mucin 1, cell surface associated

protein:increased expression:serum

RGD

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

G

mucin 2, oligomeric mucus/gel-forming

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

mucin 5AC, oligomeric mucus/gel-forming

treatment

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

mucin 5B, oligomeric mucus/gel-forming

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 proto-oncogene, transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057

G

MYD88, innate immune signal transduction adaptor

ameliorates

RGD

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

myosin light chain kinase

RGD

NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261

G

N-acetyltransferase 2

susceptibility

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

NFE2 like bZIP transcription factor 2

severity

mRNA:increased expression:bronchoalveolar lavage cell, peripheral blood mononuclear cell (human)

RGD

NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737

G

nerve growth factor

severity

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

nerve growth factor receptor

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

nucleotide-binding oligomerization domain containing 1

susceptibility

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

nucleotide-binding oligomerization domain containing 2

susceptibility

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

nitric oxide synthase 1

susceptibility

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

nitric oxide synthase 2

disease_progression
severity
no_association

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 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

nitric oxide synthase 3

susceptibility

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

neuropeptide S receptor 1

susceptibility

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 2

OMIM
CTD
ClinVar
RGD

PMID:15073379 PMID:15710598 PMID:15764725 PMID:16926187 PMID:17702965 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

neuropeptide Y

CTD Direct Evidence: marker/mechanism

NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495

G

NAD(P)H quinone dehydrogenase 1

susceptibility

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

nuclear receptor subfamily 3, group C, member 1

treatment
susceptibility
severity

DNA:polymorphism:intron
protein:increased expression, decreased activity:leukocyte, mononuclear

RGD

PMID:18396779 PMID:28297812 PMID:20727335 PMID:21113676 PMID:18799869 More...

RGD:4892328, RGD:408364991, 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

neurotrophin 3

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

neurotrophin 4

protein:increased expression:lung, serum

RGD

NCBI chr 1:95,893,560...95,896,391
Ensembl chr 1:95,893,457...95,897,243

G

neurotrophic receptor tyrosine kinase 1

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

ORMDL sphingolipid biosynthesis regulator 3

CTD Direct Evidence: marker/mechanism

PMID:21150878 PMID:25256354

NCBI chr10:83,590,052...83,596,035
Ensembl chr10:83,590,071...83,598,620

G

purinergic receptor P2Y12

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

poly (ADP-ribose) polymerase 1

treatment

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

programmed cell death 1

treatment

associated with Chlamydia pneumonia

RGD

NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937

G

phosphodiesterase 4B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:116,799,819...117,369,155
Ensembl chr 5:116,799,971...117,367,696

G

phosphodiesterase 4D

CTD Direct Evidence: marker/mechanism

PMID:19426955 PMID:21611147

NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884

G

platelet derived growth factor subunit B

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

placental growth factor

RGD

NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma

RGD

NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043

G

peptidylprolyl cis/trans isomerase, NIMA-interacting 1

RGD

NCBI chr 8:19,189,408...19,200,785
Ensembl chr 8:19,189,373...19,200,785

G

phospholipase A2 group 4A

RGD

NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266

G

phospholipase A2 group VII

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:10733466 PMID:10733466

NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476

G

plasminogen activator, urokinase

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21912604 PMID:18519237

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

protein phosphatase 2 catalytic subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:36,358,110...36,377,864
Ensembl chr10:36,358,101...36,377,862

G

perforin 1

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

proteoglycan 2, pro eosinophil major basic protein

severity
disease_progression
no_association

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

protein arginine methyltransferase 1

mRNA:increased expression:lung

RGD

NCBI chr 1:95,458,853...95,468,176
Ensembl chr 1:95,458,850...95,468,345

G

protein arginine methyltransferase 2

mRNA:increased expression:lung, spleen

RGD

NCBI chr20:12,394,748...12,420,643
Ensembl chr20:12,394,798...12,420,643

G

protein arginine methyltransferase 3

mRNA:increased expression:lung

RGD

NCBI chr 1:99,492,712...99,581,774
Ensembl chr 1:99,492,724...99,579,435

G

protein arginine methyltransferase 5

mRNA:increased expression:lung, spleen

RGD

NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296

G

protein C, inactivator of coagulation factors Va and VIIIa

treatment

RGD

NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133

G

phosphatase and tensin homolog

CTD Direct Evidence: therapeutic

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

prostaglandin D2 receptor

susceptibility

NCBI chr15:17,360,304...17,367,679
Ensembl chr15:17,360,304...17,367,679

G

prostaglandin D2 receptor 2

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

prostaglandin E receptor 3

treatment

RGD

NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434

G

prostaglandin-endoperoxide synthase 2

susceptibility
severity

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 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 double strand break repair protein

CTD Direct Evidence: marker/mechanism

NCBI chr10:37,809,353...37,861,309
Ensembl chr10:37,808,726...37,861,396

G

ras homolog family member A

RGD

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

G

ribonuclease A family member 3

CTD Direct Evidence: marker/mechanism

PMID:8874658 PMID:12153692 PMID:12587966

NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790

G

RT1 class II, locus B

susceptibility

DNA:polymorphisms: :

RGD

G

RT1 class II, locus Ba

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 class II, locus Bb

susceptibility
disease_progression
no_association

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 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 class II, locus Da

susceptibility

DNA:polymorphisms: :

RGD

NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455

G

RT1 class II, locus Db1

susceptibility
no_association
severity

DNA:polymorphisms: :
CTD Direct Evidence: marker/mechanism
DNA:polymorphism (human)

CTD
RGD

PMID:16792590 PMID:19528258 PMID:20159242 PMID:23331206 PMID:10051703 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 class II, locus Ha

susceptibility

DNA:polymorphism: :

RGD

NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244

G

RT1 class II, locus Hb, pseudogene 1

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :

PMID:16792590 PMID:17956852 PMID:21814517

NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618

G

RT1 class Ib, locus M3, gene 1

susceptibility

CTD Direct Evidence: marker/mechanism

NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117

G

RUNX family transcription factor 1

DNA:SNPs: :multiple

RGD

NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542

G

RUNX family transcription factor 3

OMIM:600807

NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156

G

secretoglobin family 1A member 1

susceptibility

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

PMID:9550363 PMID:9643286 PMID:12100044 PMID:12921604 PMID:21255142 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

secretoglobin, family 3A, member 2

susceptibility
severity
no_association

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 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

selectin L

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

serpin family A member 1

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

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

serpin family E member 1

susceptibility
no_association
severity

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

surfactant protein A1

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

surfactant protein B

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

surfactant protein C

susceptibility

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

surfactant protein D

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

solute carrier family 11 member 1

RGD

NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101

G

solute carrier family 18 member A3

RGD

NCBI chr16:7,713,630...7,716,491

G

solute carrier family 22 member 1

RGD

NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678

G

solute carrier family 5 member 7

mRNA:decreased expression:lung

RGD

NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258

G

solute carrier family 6 member 4

susceptibility

DNA:repeat:intron (human)

RGD

NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 2

RGD

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

small proline rich protein 2B

CTD Direct Evidence: marker/mechanism

NCBI chr 2:177,852,824...177,853,096
Ensembl chr 2:177,852,824...177,853,096

G

signal transducer and activator of transcription 4

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:28807506 PMID:18211752

NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540

G

signal transducer and activator of transcription 6

treatment

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

tachykinin, precursor 1

protein:increased expression:lung

RGD

NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178

G

tachykinin receptor 1

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

tachykinin receptor 2

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

transporter 1, ATP binding cassette subfamily B member

susceptibility

DNA:polymorphism: :

RGD

NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901

G

T-box transcription factor 21

CTD Direct Evidence: marker/mechanism
OMIM:600807

NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831

G

thromboxane A2 receptor

susceptibility
severity

ClinVar Annotator: match by term: Asthma
DNA:polymorphism:cds:924T>C(human)

PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:15118671 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

transforming growth factor, beta 1

onset
no_association

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 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

thrombomodulin

RGD

NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193

G

TIMP metallopeptidase inhibitor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839

G

toll-like receptor 1

susceptibility

DNA:SNP (human)

RGD

NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125

G

toll-like receptor 10

susceptibility

DNA:SNP (human)

RGD

NCBI chr14:43,400,843...43,414,056
Ensembl chr14:43,406,217...43,413,917

G

toll-like receptor 2

susceptibility
severity

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 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

toll-like receptor 3

no_association

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

toll-like receptor 4

susceptibility
no_association
severity

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 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

toll-like receptor 6

susceptibility

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

toll-like receptor 9

no_association
susceptibility
severity

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

tenascin C

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

tumor necrosis factor

susceptibility
no_association

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)

OMIM
ClinVar
CTD
RGD

PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 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

TNF receptor superfamily member 1A

protein:increased expression:lung (mouse)

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

TNFAIP3 interacting protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625

G

transient receptor potential cation channel, subfamily A, member 1

severity

CTD Direct Evidence: marker/mechanism
ovalbumin sensitization

CTD
RGD

PMID:19458046 PMID:31969645

NCBI chr 5:4,379,862...4,434,133
Ensembl chr 5:4,379,999...4,433,570

G

transient receptor potential cation channel, subfamily A, member 1;CRISPR/Cas9 induced mutant 1, Gne

severity

ovalbumin sensitization

RGD

G

thymic stromal lymphopoietin

CTD Direct Evidence: marker/mechanism

NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548

G

urocortin

associated with Hypersensitivity;mRNA, protein:increased expression:lung

RGD

NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950

G

urotensin 2

RGD

NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237

G

vitamin D receptor

no_association

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

vascular endothelial growth factor A

protein:increased expression:sputum
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11907124 PMID:15201500 PMID:19263519 PMID:19178538

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

vasoactive intestinal peptide

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

WD repeat domain 36

CTD Direct Evidence: marker/mechanism

NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092

Asthma and Nasal Polyps

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RT1 class II, locus Da

susceptibility

DNA:SNPs,haplotype:introns:

RGD

NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455

G

T-box transcription factor 21

ClinVar Annotator: match by term: Asthma and nasal polyps

NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831

asthma, nasal polyps, and aspirin intolerance

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arachidonate 15-lipoxygenase

ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance

PMID:17959182 PMID:21558275 PMID:25741868 PMID:30643255

NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874

G

leukotriene C4 synthase

ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance

NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651

G

prostaglandin E receptor 2

susceptibility

CTD Direct Evidence: marker/mechanism

NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714

G

T-box transcription factor 21

susceptibility

ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD

NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831

Bronchial Fistula

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type II alpha 1 chain

treatment

RGD

NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546

Bronchial Hyperreactivity

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 33

CTD Direct Evidence: marker/mechanism

PMID:17061022 PMID:15118671

NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461

G

calcitonin-related polypeptide alpha

CTD Direct Evidence: marker/mechanism

PMID:15127121 PMID:16777450

NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105

G

C-C motif chemokine ligand 11

associated with Gastrointestinal Diseases

RGD

NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926

G

C-C motif chemokine ligand 12

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,070,230...67,071,780
Ensembl chr10:67,070,230...67,071,780

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12388339 PMID:19762564

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 7

RGD

NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303

G

C-C motif chemokine receptor 2

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

CD14 molecule

associated with asthma; DNA:polymorphism:promoter:c. -159C>T (human)

RGD

NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261

G

cytotoxic T-lymphocyte-associated protein 4

DNA:polymorphism:exon:49A>G (human)

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

C-X-C motif chemokine ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215

G

C-X-C motif chemokine ligand 3

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511

G

cysteinyl leukotriene receptor 1

associated with Respiratory Syncytial Virus Infections

RGD

NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121

G

dipeptidyl peptidase like 10

RGD

NCBI chr13:34,584,420...36,269,292
Ensembl chr13:34,595,868...36,269,292

G

estrogen receptor 1

RGD

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

GATA binding protein 3

RGD

NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391

G

histamine N-methyltransferase

no_association

RGD

NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

interferon gamma

mRNA:increased expression:lung:

RGD

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 10

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 13

susceptibility

CTD Direct Evidence: marker/mechanism
associated with Eosinophilic enteropathy
DNA:SNP:promoter:-1055C>T (human)

CTD
RGD

PMID:12654629 PMID:23434795 PMID:12669034 PMID:15236177 PMID:11588017

RGD:4761594, RGD:4145432, RGD:4765128

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 15

RGD

NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820

G

interleukin 17A

protein:increased expression:sputum

RGD

PMID:12814161 PMID:20413629

RGD:4889115, RGD:4888526

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 18

RGD

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 18 receptor accessory protein

DNA:SNP: :rs1420106 (human)

RGD

NCBI chr 9:42,768,112...42,800,964
Ensembl chr 9:42,768,220...42,800,959

G

interleukin 1 beta

mRNA, protein:increased expression:lung

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor-like 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256

G

interleukin 1 receptor antagonist

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:14754758 PMID:14754758

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 21 receptor

RGD

NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522

G

interleukin 4 receptor

RGD

NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980

G

interleukin 5

treatment

RGD

PMID:9712797 PMID:10471622

RGD:4890961, RGD:11354935

NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213

G

integrin subunit beta 3

DNA:SNPs: :

RGD

NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679

G

macrophage migration inhibitory factor

RGD

NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504

G

matrix metallopeptidase 9

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

membrane spanning 4-domains A2

susceptibility

DNA:polymorphism:CDS: E237G (human)

RGD

NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310

G

nerve growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

nitric oxide synthase 1

protein:increased expression:lung

RGD

NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945

G

nitric oxide synthase 2

associated with reperfusion injury; mRNA:increased expression:lung
associated with Reperfusion Injury
protein:increased expression:lung, respiratory tract

RGD

PMID:20430162 PMID:17607157 PMID:11076311 PMID:19286931

RGD:4891490, RGD:4891947, RGD:4892083, RGD:5132864

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nitric oxide synthase 3

protein:decreased expression:lung

RGD

PMID:16714207 PMID:19286931

RGD:4892061, RGD:5132864

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

prostaglandin-endoperoxide synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586

G

secretoglobin family 1A member 1

RGD

NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610

G

selectin P

atopy and bronchial hyperresponsiveness, OMIM:147050

RGD

NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845

G

serpin family A member 1

DNA:mutation:cds:c.321C>A(human)

RGD

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

surfactant protein A1

protein:decreased expression:lung

RGD

NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685

G

surfactant protein B

protein:decreased expression:lung

RGD

NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436

G

surfactant protein C

protein:decreased expression:lung

RGD

NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777

G

surfactant protein D

protein:increased expression:lung

RGD

PMID:14748931 PMID:12882759

RGD:4143407, RGD:4144051

NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927

G

tachykinin, precursor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178

G

tachykinin receptor 1

RGD

PMID:18063836 PMID:15272104

RGD:5147833, RGD:5147834

NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733

G

toll-like receptor 4

RGD

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

tumor necrosis factor

associated with asthma; DNA:polymorphism:promoter: c. -308A>G (human)

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

transient receptor potential cation channel, subfamily A, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:4,379,862...4,434,133
Ensembl chr 5:4,379,999...4,433,570

G

vasoactive intestinal peptide

CTD Direct Evidence: marker/mechanism

PMID:15127121 PMID:15144609

NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216

Bronchial Spasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 1B

associated with Arthritis, Rheumatoid

RGD

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

bronchiectasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CF transmembrane conductance regulator

susceptibility

DNA:mutations, polymorphisms:
DNA:polymorphism:splice junction:IVS8 5T (human)
ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS

PMID:754013 PMID:1282016 PMID:1283148 PMID:1283149 PMID:1283151 More...

RGD:4140447, RGD:4140457

NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756

G

dynein axonemal assembly factor 11

ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS

PMID:23122589 PMID:23891469 PMID:24307375 PMID:26139845 PMID:28492532

NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837

G

dynein, axonemal, intermediate chain 1

ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS | ClinVar Annotator: match by term: Polynesian bronchiectasis

PMID:9536098 PMID:10577904 PMID:11231901 PMID:16858015 PMID:17576681 More...

NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

interleukin 1 beta

protein:increased expression:sputum

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

mannose binding lectin 2

associated with Common Variable Immunodeficiency; protein:decreased secretion:serum (human)

RGD

NCBI chr 1:228,016,439...228,024,736

G

matrix metallopeptidase 9

protein:increased expression: :

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

myosin IXA

ClinVar Annotator: match by term: Bronchiectasis

NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514

G

outer dynein arm docking complex subunit 1

ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS

PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 More...

NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925

G

radial spoke head component 1

ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS

PMID:23993197 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 More...

NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640

G

radial spoke head component 4A

ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS

PMID:9536098 PMID:17576681 PMID:23798057 PMID:25741868 PMID:28492532 More...

NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574

G

sodium channel epithelial 1 subunit beta

ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome

PMID:9576123 PMID:9674649 PMID:15661075 PMID:16207733 PMID:18507830 More...

NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

signal transducer and activator of transcription 1

ClinVar Annotator: match by term: Bronchiectasis

PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 More...

NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540

G

transporter 1, ATP binding cassette subfamily B member

susceptibility

DNA:polymorphisms:cds:p. I333V, D637G (human)

RGD

NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901

G

tumor necrosis factor

severity

CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma

CTD
RGD

PMID:17931847 PMID:18221721

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

ubiquitin specific peptidase 11

ClinVar Annotator: match by term: Bronchiectasis

NCBI chr X:1,473,349...1,489,520
Ensembl chr X:1,473,350...1,489,520

G

zinc finger, MYND-type containing 10

ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS

PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More...

NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744

bronchiectasis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CF transmembrane conductance regulator

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:754013 PMID:1282016 PMID:1283148 PMID:1283149 PMID:1283151 More...

NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756

G

lymphotoxin beta receptor

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1

NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539

G

sodium channel epithelial 1 subunit alpha

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1

NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181

G

sodium channel epithelial 1 subunit beta

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7777572 PMID:7954808 PMID:8589714 PMID:9118951 PMID:9576123 More...

NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

bronchiectasis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lymphotoxin beta receptor

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2

NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539

G

sodium channel epithelial 1 subunit alpha

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 | ClinVar Annotator: match by term: Idiopathic bronchiectasis
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1506904 PMID:10403853 PMID:10510337 PMID:10523338 PMID:11978598 More...

NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181

bronchiectasis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium channel epithelial 1 subunit gamma

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 3
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:10391210 PMID:12473862 PMID:17460608 PMID:17560176 PMID:17634077 More...

NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816

Bronchiectasis and Nasal Polyposis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WAP four-disulfide core domain 2

ClinVar Annotator: match by term: BRONCHIECTASIS AND NASAL POLYPOSIS

NCBI chr 3:153,286,946...153,314,832
Ensembl chr 3:153,286,131...153,292,807

bronchiolitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor beta 2

RGD

NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512

G

C-C motif chemokine ligand 11

severity

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 molecule

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD86 molecule

protein:decreased expression:myeloid dendritic cell (mouse)

RGD

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

C-reactive protein

severity

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

cysteinyl leukotriene receptor 1

associated with Pneumovirus Infections

RGD

NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121

G

interleukin 17A

susceptibility

DNA:SNP:promoter:rs2275913 (human)

RGD

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

interleukin 1 beta

protein:increased expression:lung

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

protein:increased expression:lung

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

mucin 5B, oligomeric mucus/gel-forming

DNA:polymorphisms:promoter:rs885454,rs17235353, rs7115457 (human)

RGD

NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250

bronchiolitis obliterans

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

RGD