RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: chronic obstructive pulmonary disease
Accession: DOID:3083
browse the term
Definition: An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both. (DO)
Synonyms: exact_synonym: COAD; COLD; COPD; Chronic Airflow Obstruction; Chronic Airflow Obstructions; Chronic Obstructive Airway Disease; Chronic Obstructive Lung Disease
narrow_synonym: CHRONIC OBSTRUCTIVE PULMONARY DISEASE, BIOMASS RELATED; COPD, severe early-onset; Chronic Obstructive Pulmonary Disease, Severe Early-Onset; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN
related_synonym: ANTICHYMOTRYPSIN BONN 1; HMOX1-RELATED CONDITION; chronic obstructive pulmonary disease, susceptibility to
primary_id: MESH:C564641 ; MESH:D029424
alt_id: DOID:9005540; MIM:606963
xref: EFO:0000341 ; ICD10CM:J44.9 ; NCI:C3199
For additional species annotation, visit the
Alliance of Genome Resources .
GViewer not supported for the selected species.
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Abcc1
ATP binding cassette subfamily C member 1 (ABCC1 blood group)
severity
ISO
mRNA:decreased expression:respiratory epithelial cell DNA:SNPs: :rs212093, rs4148382 (human)
RGD
PMID:12930913 PMID:20487524
RGD:5128824 RGD:5128827
NCBI chrNW_004936501:3,400,971...3,467,061
Ensembl chrNW_004936501:3,401,285...3,470,460
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Adam33
ADAM metallopeptidase domain 33
susceptibility no_association
ISO
DNA:polymorphisms: :multiple (human) DNA:polymorphisms (human)
RGD
PMID:19284602 PMID:20003279 PMID:20156753
RGD:4145357 RGD:4145358 RGD:4145361
NCBI chrNW_004936485:15,005,329...15,018,063
Ensembl chrNW_004936485:15,007,485...15,017,497
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Adam9
ADAM metallopeptidase domain 9
ISO
protein:increased expression:pulmonary artery
RGD
PMID:36522710
RGD:401850545
NCBI chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695
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Adipoq
adiponectin, C1Q and collagen domain containing
disease_progression
ISO
associated with Metabolic Syndrome X;protein:decreased expression:serum
RGD
PMID:21179920 PMID:22207678
RGD:5686379 RGD:5686825
NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928
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Adora2a
adenosine A2a receptor
ISO
RGD
PMID:16339780
RGD:4890385
NCBI chrNW_004936619:597,970...618,564
Ensembl chrNW_004936619:608,441...616,779
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Adrb1
adrenoceptor beta 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
PMID:10212248 PMID:12374873 PMID:16844790 PMID:17496726
NCBI chrNW_004936486:4,400,467...4,401,588
Ensembl chrNW_004936486:4,399,915...4,403,149
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Adrb2
adrenoceptor beta 2
no_association severity disease_progression
ISO
DNA:polymorphism: :p.Q27E (human) DNA:SNP: :p.R16G (human) protein:decreased expression:blood, sputum, mononuclear cell DNA:SNPs: :p.R16G, p.Q27E (human) DNA:SNPs: :rs1042717, rs1042718 (human)
RGD
PMID:11527135 PMID:18667995 PMID:18789663 PMID:19080468 PMID:19293197 PMID:19747908 PMID:20211002 PMID:20525719 More...
RGD:4140935 RGD:4144899 RGD:4145080 RGD:4145082 RGD:4145086 RGD:4145093 RGD:4145095 RGD:5129114
NCBI chrNW_004936504:5,985,407...5,987,453
Ensembl chrNW_004936504:5,985,960...5,987,210
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Ager
advanced glycosylation end-product specific receptor
ISO
ClinVar Annotator: match by term: COPD, severe early onset
ClinVar
NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147
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Ang
angiogenin
ISO
protein:increased expression:sputum
RGD
PMID:21916917
RGD:6892708
NCBI chrNW_004936880:39,372...40,070
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Arnt2
aryl hydrocarbon receptor nuclear translocator 2
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chrNW_004936483:20,041,712...20,218,853
Ensembl chrNW_004936483:20,041,657...20,218,965
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Bambi
BMP and activin membrane bound inhibitor
ISO
mRNA:increased expression:CD4+ T :
RGD
PMID:27549738
RGD:14390164
NCBI chrNW_004936613:3,098,549...3,103,868
Ensembl chrNW_004936613:3,098,159...3,103,868
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Bcl2l1
BCL2 like 1
ISO
mRNA:increased expression:peripheral blood, neutrophil (human)
RGD
PMID:22686245
RGD:11353864
NCBI chrNW_004936485:18,654,046...18,707,324
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Bdkrb2
bradykinin receptor B2
ISO
RGD
PMID:16600946
RGD:4890451
NCBI chrNW_004936604:548,844...551,031
Ensembl chrNW_004936604:548,847...549,956
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Bmal2
basic helix-loop-helix ARNT like 2
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chrNW_004936548:181,793...241,050
Ensembl chrNW_004936548:182,075...225,856
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Bnip3
BCL2 interacting protein 3
treatment
ISO
RGD
PMID:25888379
RGD:11561985
NCBI chrNW_004936486:18,449,371...18,460,435
Ensembl chrNW_004936486:18,448,494...18,455,927
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C3
complement C3
ISO
protein:increased expression:lung
RGD
PMID:17975205
RGD:5129504
NCBI chrNW_004936588:3,985,732...4,023,221
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C5
complement C5
severity
ISO
protein:increased expression:sputum
RGD
PMID:20500690
RGD:5129705
NCBI chrNW_004936487:9,391,774...9,474,168
Ensembl chrNW_004936487:9,391,804...9,474,159
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C5ar1
complement C5a receptor 1
ISO
protein:increased expression:lung, mast cell
RGD
PMID:19926870
RGD:5130165
NCBI chrNW_004936664:1,026,216...1,033,438
Ensembl chrNW_004936664:1,032,304...1,033,374
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Casp3
caspase 3
treatment
ISO
RGD
PMID:28496315
RGD:13782303
NCBI chrNW_004936554:4,571,072...4,593,765
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Casp8
caspase 8
treatment
ISO
RGD
PMID:28496315
RGD:13782303
NCBI chrNW_004936726:554,627...596,334
Ensembl chrNW_004936726:554,758...595,922
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Cat
catalase
ISO
RGD
PMID:20080081
RGD:4293707
NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422
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Ccl1
C-C motif chemokine ligand 1
severity
ISO
DNA:SNP:enhancer:rs2282691 (human)
RGD
PMID:16864713
RGD:4891410
NCBI chrNW_004936538:781,687...784,199
Ensembl chrNW_004936538:781,687...784,199
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Ccl17
C-C motif chemokine ligand 17
ISO
mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion
RGD
PMID:18684970
RGD:4145489
NCBI chrNW_004936475:9,475,013...9,476,326
Ensembl chrNW_004936475:9,474,961...9,476,398
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Ccl22
C-C motif chemokine ligand 22
ISO
mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion
RGD
PMID:18684970
RGD:4145489
NCBI chrNW_004936475:9,432,505...9,436,240
Ensembl chrNW_004936475:9,432,505...9,436,240
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Ccl5
C-C motif chemokine ligand 5
ISO
mRNA, protein:increased expression:lung, bronchial epithelium, submucosa (human)
RGD
PMID:19703829
RGD:4891477
NCBI chrNW_004936490:253,279...259,947
Ensembl chrNW_004936490:253,034...259,965
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Ccl8
C-C motif chemokine ligand 8
ISO
RGD
PMID:20970515
RGD:5131087
NCBI chrNW_004936538:805,273...806,715
Ensembl chrNW_004936538:805,259...806,695
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Ccn2
cellular communication network factor 2
ISO
mRNA, protein:increased expression:lung (rat)
RGD
PMID:19659652
RGD:2314483
NCBI chrNW_004936560:42,561...45,748
Ensembl chrNW_004936560:42,537...45,807
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Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:respiratory system fluid/secretion, neutrophil
RGD
PMID:19017998
RGD:4145632
NCBI chrNW_004936596:223,660...224,739
Ensembl chrNW_004936596:223,660...224,739
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Cd28
CD28 molecule
ISO
CD28 null allele is increased in COPD
RGD
PMID:18057064 PMID:19220836
RGD:5131618 RGD:5131620
NCBI chrNW_004936631:335,411...363,407
Ensembl chrNW_004936631:335,411...363,407
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Cd40
CD40 molecule
severity
ISO
RGD
PMID:20699612
RGD:5490968
NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280
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Cd80
CD80 molecule
ISO
RGD
PMID:19729666
RGD:4892292
NCBI chrNW_004936536:6,462,080...6,483,450
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Cd86
CD86 molecule
severity susceptibility
ISO
protein:increased expression:lung, myeloid dendritic cell (human) DNA:polymorphism:cds:g.1057G>A rs1129055 (human)
RGD
PMID:19729666 PMID:20732370
RGD:4891504 RGD:4892292
NCBI chrNW_004936536:8,414,491...8,481,712
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Cd8a
CD8 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17950725
NCBI chrNW_004936712:885,301...891,247
Ensembl chrNW_004936712:885,458...890,852
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Cdkn1a
cyclin dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35303175
NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182
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Cftr
CF transmembrane conductance regulator
disease_progression
ISO
DNA:polymorphism:cds:p.M470V(human)
RGD
PMID:18652532
RGD:4140431
NCBI chrNW_004936589:1,565,933...1,719,208
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:20656949
RGD:4892658
NCBI chrNW_004936567:1,411,080...1,418,332
Ensembl chrNW_004936567:1,411,037...1,418,801
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Chrm3
cholinergic receptor muscarinic 3
ISO
RGD
PMID:19281093
RGD:5133441
NCBI chrNW_004936484:13,953,141...14,373,174
Ensembl chrNW_004936484:13,954,887...13,956,659
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Chrna3
cholinergic receptor nicotinic alpha 3 subunit
susceptibility disease_progression
ISO
DNA:SNP: :rs12910984(human) associated with smoking; DNA:SNP: :rs1051730(human) associated with smoking; DNA:SNP::rs1051730(human) DNA:SNP: :rs6495309(human)
RGD
PMID:22441734 PMID:23056235 PMID:23207642 PMID:26751916 PMID:29993116
RGD:150526806 RGD:150527850 RGD:151347455 RGD:151347536 RGD:151347538
NCBI chrNW_004936471:36,427,598...36,447,903
Ensembl chrNW_004936471:36,427,495...36,457,758
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Chrna5
cholinergic receptor nicotinic alpha 5 subunit
susceptibility
ISO
associated with lung cancer; DNA:SNP::rs16969968 (human) associated with smoking; DNA:SNP::rs16969968 (human)
RGD
PMID:29993116 PMID:33419953
RGD:150524357 RGD:150526806
NCBI chrNW_004936471:36,451,070...36,492,774
Ensembl chrNW_004936471:36,452,965...36,492,618
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
disease_progression
ISO
DNA:CNV:: CNV-3956(human)
RGD
PMID:25407004
RGD:11074492
NCBI chrNW_004937351:32,324...46,871
Ensembl chrNW_004937351:34,921...47,246
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Chrnb4
cholinergic receptor nicotinic beta 4 subunit
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chrNW_004936471:36,408,471...36,425,571
Ensembl chrNW_004936471:36,408,447...36,426,021
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Clca1
chloride channel accessory 1
severity
ISO
DNA:SNPs: :multiple (human) mRNA:increased expression:bronchus
RGD
PMID:14985398 PMID:17637221
RGD:1331524 RGD:4145655
NCBI chrNW_004936865:155,284...188,988
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Col1a1
collagen type I alpha 1 chain
ISO
RGD
PMID:15469929
RGD:5131854
NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444
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Crhr1
corticotropin releasing hormone receptor 1
treatment
ISO
DNA:SNP:intron: (rs242941) (human)
RGD
PMID:19210659
RGD:11097322
NCBI chrNW_004936541:2,288,847...2,333,129
Ensembl chrNW_004936541:2,288,841...2,331,689
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Crp
C-reactive protein
severity
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism protein:increased expression:serum
RGD CTD
PMID:21468168 PMID:21506665 PMID:29329563
RGD:5131278 RGD:5131279
NCBI chrNW_004936740:885,855...888,854
Ensembl chrNW_004936740:883,272...890,606
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Csf2
colony stimulating factor 2
ISO
protein:increased expression:sputum
RGD
PMID:19213775
RGD:5131476
NCBI chrNW_004936647:3,081,896...3,083,864
Ensembl chrNW_004936647:3,081,896...3,083,864
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Ctla4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
DNA:SNP: :-318C>T (rs5742909) (human)
RGD
PMID:20732370 PMID:21129004
RGD:4891499 RGD:4891504
NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:sputum
RGD
PMID:17925429
RGD:5135436
NCBI chrNW_004936676:60,869...63,028
Ensembl chrNW_004936676:60,621...63,106
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Cxcl11
C-X-C motif chemokine ligand 11
ISO
protein:increased expression:sputum
RGD
PMID:17925429
RGD:5135436
NCBI chrNW_004936676:72,383...73,697
Ensembl chrNW_004936676:71,667...73,738
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:sputum
RGD
PMID:17925429 PMID:19229703
RGD:4892070 RGD:5135436
NCBI chrNW_004936676:33,580...40,323
Ensembl chrNW_004936676:32,128...40,329
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Cxcr3
C-X-C motif chemokine receptor 3
disease_progression
ISO
protein:increased expression:respiratory system fluid/secretion, neutrophil
RGD
PMID:19017998 PMID:19218194
RGD:4145632 RGD:5135435
NCBI chrNW_004936762:66,636...69,694
Ensembl chrNW_004936762:66,636...69,373
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Ddit3
DNA damage inducible transcript 3
treatment
ISO
RGD
PMID:24694971
RGD:13782182
NCBI chrNW_004936646:1,665,019...1,669,212
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Defb1
defensin beta 1
no_association susceptibility
ISO
DNA:SNPs: :multiple (human) DNA:polymorphism: :668C>G (human) DNA:polymorphism (human)
RGD
PMID:11829455 PMID:15569478 PMID:16700921
RGD:1331523 RGD:4892251 RGD:4892257
NCBI chrNW_004936615:4,780,229...4,790,516
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Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199
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Edn1
endothelin 1
ISO
DNA:insertion, transversion:5' utr, exon:c.138_139insA, p.K198N (human) protein:increased expression:sputum (human)
RGD
PMID:10445603 PMID:20707291
RGD:4144868 RGD:4145062
NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772
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Eefsec
eukaryotic elongation factor, selenocysteine-tRNA specific
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28166215
NCBI chrNW_004936798:448,114...512,234
Ensembl chrNW_004936798:448,105...512,256
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Egfr
epidermal growth factor receptor
ISO
protein:increased expression:bronchial epithelium (human)
RGD
PMID:16393673 PMID:22732689
RGD:5131627 RGD:7204496
NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528
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Egr1
early growth response 1
ISO
associated with Tobacco Use Disorder associated with Tobacco Use Disorder;mRNA:increased expression:lung (human)
RGD
PMID:15469929 PMID:20417178
RGD:5131854 RGD:5131878
NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749
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Eln
elastin
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16081882 PMID:25106431
RGD:1580326
NCBI chrNW_004936543:3,135,169...3,165,023
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Ephx1
epoxide hydrolase 1
no_association susceptibility
ISO
DNA:SNPs: :multiple (human) CTD Direct Evidence: marker/mechanism DNA:SNP:exon:p.H139R (rs2234922) (human) DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) DNA:polymorphism
RGD CTD
PMID:9288046 PMID:17564249 PMID:18614560 PMID:18811882 PMID:20932192
RGD:1601065 RGD:4889120 RGD:4889121 RGD:4889122 RGD:4889123
NCBI chrNW_004936526:2,589,254...2,652,831
Ensembl chrNW_004936526:2,614,059...2,653,286
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Erbb3
erb-b2 receptor tyrosine kinase 3
ISO
protein:increased expression:lung
RGD
PMID:17908459
RGD:2289953
NCBI chrNW_004936646:497,783...515,247
Ensembl chrNW_004936646:498,749...513,297
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F2
coagulation factor II, thrombin
severity
ISO
RGD
PMID:21660493
RGD:5147752
NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650
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F2rl1
F2R like trypsin receptor 1
ISO
RGD
PMID:21245013
RGD:4892586
NCBI chrNW_004936549:142,281...153,575
Ensembl chrNW_004936549:141,512...153,602
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Faim2
Fas apoptotic inhibitory molecule 2
ISO
RGD
PMID:29208459
RGD:13792601
NCBI chrNW_004936512:7,544,047...7,575,922
Ensembl chrNW_004936512:7,544,003...7,576,315
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Fam13a
family with sequence similarity 13 member A
susceptibility
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease DNA:SNP: :rs7671167 (human)
ClinVar RGD
PMID:25928290
RGD:11552597
NCBI chrNW_004936685:1,174,072...1,358,441
Ensembl chrNW_004936685:1,171,584...1,501,074
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Fas
Fas cell surface death receptor
ISO
RGD
PMID:29208459
RGD:13792601
NCBI chrNW_004936735:209,369...234,582
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Faslg
Fas ligand
ISO
RGD
PMID:29208459
RGD:13792601
NCBI chrNW_004936481:14,789,547...14,795,780
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Flt1
fms related receptor tyrosine kinase 1
ISO
protein:increased expression:lung
RGD
PMID:15681497
RGD:5684420
NCBI chrNW_004936472:23,442,946...23,617,523
Ensembl chrNW_004936472:23,440,088...23,617,041
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Foxo3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23099361
NCBI chrNW_004936564:4,788,036...4,907,600
Ensembl chrNW_004936564:4,787,992...4,903,837
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Gc
GC vitamin D binding protein
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
PMID:28492532
NCBI chrNW_004936598:3,220,029...3,256,091
Ensembl chrNW_004936598:3,219,991...3,261,629
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Grik5
glutamate ionotropic receptor kainate type subunit 5
susceptibility
ISO
DNA:SNP: :rs8099939
RGD
PMID:28900078
RGD:401900295
NCBI chrNW_004936706:410,806...469,000
Ensembl chrNW_004936706:410,938...464,714
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Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
susceptibility
ISO
DNA:SNP: :rs2268132
RGD
PMID:28900078
RGD:401900295
NCBI chrNW_004936587:3,406,055...3,806,956
Ensembl chrNW_004936587:3,405,698...3,804,664
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Gstp1
glutathione S-transferase pi 1
susceptibility no_association
ISO
DNA:polymorphism:exon:p.I105V (human) ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
RGD ClinVar
PMID:17439673 PMID:20467983 PMID:25741868
RGD:4140938 RGD:4142514
NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050
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Gzma
granzyme A
ISO
RGD
PMID:20047264
RGD:5135520
NCBI chrNW_004936480:12,641,587...12,649,243
Ensembl chrNW_004936480:12,641,433...12,649,324
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Hdac2
histone deacetylase 2
treatment
ISO
protein:decreased expression:lung: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15337792 PMID:18421014 PMID:22732689 PMID:24940433
RGD:7204496 RGD:9590287
NCBI chrNW_004936679:2,448,676...2,474,641
Ensembl chrNW_004936679:2,448,390...2,474,641
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Hdac8
histone deacetylase 8
severity
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:15888697
RGD:13208820
NCBI chrNW_004936762:1,425,337...1,652,058
Ensembl chrNW_004936762:1,425,335...1,652,063
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Hhip
hedgehog interacting protein
susceptibility
ISO
DNA:SNP: :rs13118928(human) ClinVar Annotator: match by term: Chronic obstructive pulmonary disease, biomass related DNA:SNPs: :rs11100865, rs7654947(human)
RGD ClinVar
PMID:19996190 PMID:25928290
RGD:11552597 RGD:11552598
NCBI chrNW_004936535:4,210,305...4,305,930
Ensembl chrNW_004936535:4,210,305...4,305,930
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26752192
NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157
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Hmox1
heme oxygenase 1
treatment susceptibility severity
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease | ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset DNA:polymorphism:promoter
RGD ClinVar OMIM
PMID:9884342 PMID:17203192 PMID:17254481 PMID:20705587 PMID:21088618 PMID:25741868 PMID:28492532 More...
RGD:10755705 RGD:4145371 RGD:4145372
NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311
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Hspa4
heat shock protein family A (Hsp70) member 4
no_association
ISO
protein:increased expression:serum (human) protein:increased expression:bronchial mucosa (human)
RGD
PMID:19350847 PMID:22140545
RGD:5688779 RGD:5688781
NCBI chrNW_004936647:2,087,650...2,133,343
Ensembl chrNW_004936647:2,087,604...2,133,355
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Htr2a
5-hydroxytryptamine receptor 2A
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs6313
CTD RGD
PMID:22048642 PMID:28900078
RGD:401900295
NCBI chrNW_004936565:335,238...394,683
Ensembl chrNW_004936565:334,393...394,715
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Hykk
hydroxylysine kinase
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chrNW_004936471:36,520,182...36,541,087
Ensembl chrNW_004936471:36,517,689...36,541,103
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Icam1
intercellular adhesion molecule 1
ISO
protein:decreased expression:airway epithelium (mouse) mRNA:increased expression:airway epithelial cell (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18794286 PMID:20395558 PMID:29329563
RGD:4145446 RGD:4145522
NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
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Il12b
interleukin 12B
ISO
DNA:polymorphism: :
RGD
PMID:19279357
RGD:4145423
NCBI chrNW_004936515:4,056,214...4,066,121
Ensembl chrNW_004936515:4,056,214...4,065,076
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Il13
interleukin 13
susceptibility no_association
ISO
DNA:polymorphism: :c. 1103C>T (human) DNA:polymorphism:promoter:c.-1055C>T (human) DNA:polymorphisms:intron1,exon4s: rs2066960, rs20541, rs1295685 (human) DNA:SNP:promoter:c.-1055 C>T (human)
RGD
PMID:15308043 PMID:15820084 PMID:19796199 PMID:19995275
RGD:4145596 RGD:4145601 RGD:4145668 RGD:4145714
NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373
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Il13ra1
interleukin 13 receptor subunit alpha 1
ISO
DNA:SNP: :rs2250747 (human)
RGD
PMID:19796199
RGD:4145601
NCBI chrNW_004936479:11,052,077...11,108,915
Ensembl chrNW_004936479:11,050,249...11,108,909
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Il16
interleukin 16
ISO
protein:increased expression:lung
RGD
PMID:20079227
RGD:5024924
NCBI chrNW_004936483:19,417,580...19,512,654
Ensembl chrNW_004936483:19,418,086...19,512,639
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Il17a
interleukin 17A
ISO
protein:increased expression:lung, bronchioalveolar lavage fluid (rat) protein:increased expression:respiratory mucosa
RGD
PMID:16200865 PMID:19604272
RGD:4889104 RGD:9068943
NCBI chrNW_004936476:8,621,860...8,625,008
Ensembl chrNW_004936476:8,621,860...8,625,008
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Il18
interleukin 18
ISO
protein:increased expression:serum protein:increased expression:sputum, macrophage
RGD
PMID:19208460 PMID:20026745
RGD:4889551 RGD:4889575
NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
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Il18bp
interleukin 18 binding protein
ISO
protein:increased expression:serum
RGD
PMID:20026745
RGD:4889551
NCBI chrNW_004936498:1,353,569...1,358,312
Ensembl chrNW_004936498:1,355,749...1,361,117
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Il1b
interleukin 1 beta
no_association severity susceptibility
ISO
DNA:polymorphism: :-31T>C (human) DNA:polymorphisms: :-31T>C, 3953T>C (human) DNA:polymorphisms: :-31T>C, -511C>T (human) DNA:polymorphisms: :-31T>C, 3954T>C (human)
RGD
PMID:15766560 PMID:17380888 PMID:18364273 PMID:18579366
RGD:4142866 RGD:4142868 RGD:4142873 RGD:4143169
NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165
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Il1rl1
interleukin 1 receptor like 1
ISO
mRNA:increased expression:lung:
RGD
PMID:19927353 PMID:30952808
RGD:40400740 RGD:5144227
NCBI chrNW_004936713:1,020,969...1,035,012
Ensembl chrNW_004936713:1,021,044...1,035,039
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Il1rn
interleukin 1 receptor antagonist
no_association susceptibility
ISO
DNA:polymorphism (human) protein:decreased expression:plasma DNA:polymorphism:intron (human)
RGD
PMID:18364273 PMID:18579366 PMID:19291375
RGD:4142861 RGD:4142866 RGD:4142868
NCBI chrNW_004936783:1,447,158...1,466,331
Ensembl chrNW_004936783:1,447,106...1,466,340
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Il27
interleukin 27
ISO
DNA:polymorphisms: :-964A>G, 2905T>G (human)
RGD
PMID:18554158
RGD:5128484
NCBI chrNW_004936501:11,972,715...11,978,152
Ensembl chrNW_004936501:11,973,385...11,976,583
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Il33
interleukin 33
ISO
mRNA,protein:increased expression:lung:
RGD
PMID:30952808
RGD:40400740
NCBI chrNW_004936539:763,755...791,461
Ensembl chrNW_004936539:623,248...791,470
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Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:20858153
RGD:4890939
NCBI chrNW_004936647:2,647,982...2,651,477
Ensembl chrNW_004936647:2,648,241...2,651,430
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Il5ra
interleukin 5 receptor subunit alpha
ISO
protein:increased expression:serum
RGD
PMID:15286446
RGD:5128619
NCBI chrNW_004936577:2,776,608...2,797,303
Ensembl chrNW_004936577:2,776,721...2,797,300
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Il6
interleukin 6
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20819268 PMID:28864214 PMID:29329563 PMID:31349846
RGD:4143243
NCBI chrNW_004936549:7,015,595...7,016,246
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Il9
interleukin 9
ISO
protein:increased expression:sputum, macrophage, cytoplasm
RGD
PMID:15303135
RGD:5128691
NCBI chrNW_004936597:2,983,953...2,986,975
Ensembl chrNW_004936597:2,983,953...2,986,975
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:34331613
RGD:155663371
NCBI chrNW_004936522:3,034,364...3,037,632
Ensembl chrNW_004936522:3,035,346...3,036,350
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:lung
RGD
PMID:15681497
RGD:5684420
NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002
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Klf5
KLF transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30639269
NCBI chrNW_004936511:7,806,714...7,824,833
Ensembl chrNW_004936511:7,806,708...7,824,992
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Lcn1
lipocalin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28381600
NCBI chrNW_004936669:1,996,399...2,000,130
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Lep
leptin
severity
ISO
DNA:polymorphism:promoter: -2548 G>A (human) protein:decreased expression:serum protein:increased expression:plasma
RGD
PMID:20021311 PMID:20854423 PMID:21367591
RGD:5128772 RGD:5128777 RGD:5128778
NCBI chrNW_004936479:15,394,966...15,411,334
Ensembl chrNW_004936479:15,394,966...15,411,334
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Lepr
leptin receptor
disease_progression
ISO
DNA:SNPs: : protein:decreased expression:lung
RGD
PMID:19196818
RGD:5128813
NCBI chrNW_004936591:5,771,371...5,846,177
Ensembl chrNW_004936591:5,774,326...5,836,444
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LOC101954950
aromatase
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chrNW_004936471:13,107,603...13,136,910
Ensembl chrNW_004936471:13,107,603...13,136,910
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LOC101955242
cytochrome P450 4B1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chrNW_004936474:27,705,874...27,782,328
Ensembl chrNW_004936474:27,767,371...27,782,008
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LOC101955831
heat shock 70 kDa protein 1
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chrNW_004936727:1,718,952...1,721,691
G
LOC101956126
heat shock 70 kDa protein 1
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chrNW_004936727:1,732,323...1,735,128
G
LOC101956412
heat shock 70 kDa protein 1-like
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chrNW_004936727:1,735,880...1,745,231
Ensembl chrNW_004936727:1,736,243...1,745,231
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LOC101960095
antileukoproteinase
treatment
ISO
RGD
PMID:18375249
RGD:9999419
NCBI chrNW_004936514:7,618,382...7,620,790
Ensembl chrNW_004936514:7,618,261...7,620,912
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LOC101961079
cholesterol 24-hydroxylase
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chrNW_004936604:3,451,853...3,490,688
Ensembl chrNW_004936604:3,451,842...3,491,159
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LOC101963197
HLA class II histocompatibility antigen, DP beta 1 chain
ISO
RGD
PMID:21423603
RGD:5143980
NCBI chrNW_004936476:25,730,800...25,741,089
Ensembl chrNW_004936476:25,730,596...25,741,145
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LOC101964975
interleukin-8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15337792 PMID:23099361 PMID:28864214
NCBI chrNW_004936598:1,779,471...1,781,353
Ensembl chrNW_004936598:1,779,471...1,781,353
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LOC101967032
cytochrome b-245 light chain
susceptibility
ISO
DNA:polymorphism: :p.H72Y (human) DNA:polymorphisms: :-930A>G, 242C>T (human)
RGD
PMID:19567155 PMID:20080081
RGD:4293707 RGD:4304108
NCBI chrNW_004936641:1,036,967...1,044,954
Ensembl chrNW_004936641:1,036,967...1,044,991
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LOC101968920
eotaxin
severity
ISO
RGD
PMID:19925666
RGD:4145389
NCBI chrNW_004936538:835,436...848,907
Ensembl chrNW_004936538:835,859...837,710 Ensembl chrNW_004936538:835,859...837,710
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LOC101968921
angiotensin-converting enzyme
disease_progression susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:19493329 PMID:20096799 PMID:20156752
RGD:4140480 RGD:4140487 RGD:4140912
NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177
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LOC101969148
cytochrome P450 1A1
susceptibility severity no_association
ISO
DNA:polymorphisms: :p.I462V, 3801T>C (human) DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :2455A>G, 3801T>C (human)
RGD CTD
PMID:18389617 PMID:19022366 PMID:19507017 PMID:20080081
RGD:4293707 RGD:4892045 RGD:4892071
NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332
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LOC101969421
cytochrome P450 1A2
susceptibility
ISO
DNA:polymorphisms: :-3860G>A (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20080081 PMID:20797314
RGD:4293707
NCBI chrNW_004936471:33,704,616...33,709,455
Ensembl chrNW_004936471:33,703,792...33,709,484
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LOC101972957
vitamin D 25-hydroxylase
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004936528:3,881,630...3,897,613
Ensembl chrNW_004936528:3,881,087...3,900,302
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LOC101973029
cytochrome P450 2E1
ISO
DNA:polymorphisms: :-1293G>C, 7632T>A, 9893C>G (human)
RGD
PMID:17442289
RGD:4892219
NCBI chrNW_004936486:19,691,822...19,702,684
Ensembl chrNW_004936486:19,691,822...19,702,102
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LOC101973720
rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363678
NCBI chrNW_004936512:5,636,197...5,659,606
Ensembl chrNW_004936512:5,636,758...5,659,300 Ensembl chrNW_004936512:5,636,758...5,659,300
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LOC101975630
solute carrier family 22 member 4
treatment
ISO
RGD
PMID:32707498
RGD:597538521
NCBI chrNW_004936647:2,825,814...2,874,786
Ensembl chrNW_004936647:2,825,814...2,874,774
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LOC101975820
cholesterol side-chain cleavage enzyme, mitochondrial
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chrNW_004936471:33,367,810...33,380,764
Ensembl chrNW_004936471:33,367,810...33,380,764
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LOC101976500
haptoglobin
ISO
RGD
PMID:21471098
RGD:5144151
NCBI chrNW_004936475:21,841,054...21,845,821
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Lrp1b
LDL receptor related protein 1B
susceptibility
ISO
associated with lung adenocarcinoma;DNA:mutations:multiple: (human)
RGD
PMID:28522810
RGD:150429784
NCBI chrNW_004936469:35,000,773...36,160,216
Ensembl chrNW_004936469:35,203,594...36,159,283
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Map2k4
mitogen-activated protein kinase kinase 4
severity
ISO
RGD
PMID:20699612
RGD:5490968
NCBI chrNW_004936595:4,762,327...4,828,433
Ensembl chrNW_004936595:4,727,108...4,830,662
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Map3k7
mitogen-activated protein kinase kinase kinase 7
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:34331613
RGD:155663371
NCBI chrNW_004936510:1,772,971...1,836,075
Ensembl chrNW_004936510:1,772,971...1,837,765
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Mapk8
mitogen-activated protein kinase 8
severity
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:20699612 PMID:34331613
RGD:155663371 RGD:5490968
NCBI chrNW_004936728:1,775,746...1,893,895
Ensembl chrNW_004936728:1,775,641...1,893,907
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Mcam
melanoma cell adhesion molecule
ISO
RGD
PMID:23649916
RGD:7364780
NCBI chrNW_004936542:4,235,914...4,244,981
Ensembl chrNW_004936542:4,237,010...4,244,462
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Mgst1
microsomal glutathione S-transferase 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chrNW_004936587:1,270,030...1,287,130
Ensembl chrNW_004936587:1,269,184...1,287,150
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Mgst3
microsomal glutathione S-transferase 3
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chrNW_004936481:19,654,335...19,665,994
Ensembl chrNW_004936481:19,654,441...19,659,291
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Mif
macrophage migration inhibitory factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26752192
NCBI chrNW_004936619:1,207,058...1,208,010
Ensembl chrNW_004936619:1,203,746...1,208,442
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Mmp1
matrix metallopeptidase 1
ISO
ClinVar Annotator: match by term: PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset
ClinVar
PMID:9850057 PMID:11741975 PMID:11875051 PMID:18030675 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857
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Mmp14
matrix metallopeptidase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19661247
NCBI chrNW_004936722:1,447,189...1,457,632
Ensembl chrNW_004936722:1,447,335...1,457,611
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Mmp9
matrix metallopeptidase 9
treatment susceptibility severity
ISO
protein:increased expression:serum DNA:polymorphism: :-1562C-->T (human) DNA:polymorphism:promoter:-1562C-->T (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18619044 PMID:19299917 PMID:19411568 PMID:20160424 PMID:25842729
RGD:13207319 RGD:5129494 RGD:5129553 RGD:5130149
NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
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Mpo
myeloperoxidase
severity
ISO
protein:increased expression:serum protein:increased activity:plasma
RGD
PMID:10917466 PMID:19491038
RGD:5130993 RGD:5130997
NCBI chrNW_004936490:4,809,773...4,819,070
Ensembl chrNW_004936490:4,809,631...4,819,070
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Mtcl1
microtubule crosslinking factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28166215
NCBI chrNW_004936670:2,388,839...2,516,758
Ensembl chrNW_004936670:2,388,908...2,516,875
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:sputum (human)
RGD
PMID:21474912
RGD:5131160
NCBI chrNW_004936580:4,691,870...4,694,092
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
treatment
ISO
mRNA, protein:increased expression:lung protein:increased expression:bronchi
RGD
PMID:17637221 PMID:19723147 PMID:22282955
RGD:4145655 RGD:5131190 RGD:7349406
NCBI chrNW_004936816:129,926...159,396
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
protein:increased expression:sputum
RGD
PMID:18776153
RGD:5131169
NCBI chrNW_004936816:174,943...209,241
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
protein:decreased expression:lung protein:increased expression:lung
RGD
PMID:18556627 PMID:22737924
RGD:10412732 RGD:5134980
NCBI chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262
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Nod2
nucleotide binding oligomerization domain containing 2
severity
ISO
DNA:SNP:intron: (rs1077861) (human)
RGD
PMID:21943069
RGD:5508720
NCBI chrNW_004936475:3,708,069...3,742,845
Ensembl chrNW_004936475:3,713,362...3,745,982
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Nos1
nitric oxide synthase 1
severity
ISO
protein:increased expression:skeletal muscle mRNA, protein:increased expression:lung
RGD
PMID:12816735 PMID:19797159
RGD:5132607 RGD:5132628
NCBI chrNW_004936558:5,162,471...5,302,488
Ensembl chrNW_004936558:5,233,459...5,301,414
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:lung
CTD RGD
PMID:12797490 PMID:21843929
RGD:4891444
NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21843929
NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
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Nqo1
NAD(P)H quinone dehydrogenase 1
susceptibility treatment
ISO
DNA:polymorphisms: :465C>T, 609C>T (human) protein, mRNA:decreased expression:lung
RGD
PMID:18556627 PMID:19705749 PMID:28790194
RGD:13439712 RGD:5133267 RGD:5134980
NCBI chrNW_004936475:19,771,384...19,785,034
Ensembl chrNW_004936475:19,769,488...19,785,311
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Nr3c1
nuclear receptor subfamily 3 group C member 1
ISO
protein:decreased expression:lung, lymphocyte
RGD
PMID:9926163 PMID:20450542
RGD:4892318 RGD:4892564
NCBI chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856
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Ntf3
neurotrophin 3
ISO
mRNA:decreased expression:bronchus
RGD
PMID:15843147
RGD:4891120
NCBI chrNW_004936709:2,163,510...2,223,429
Ensembl chrNW_004936709:2,163,334...2,223,552
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
protein:increased expression:bronchiolar epithelial cell
RGD
PMID:21429417
RGD:5684530
NCBI chrNW_004936580:6,002,168...6,021,690
Ensembl chrNW_004936580:6,002,120...6,021,709
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Pde3b
phosphodiesterase 3B
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004936528:3,922,436...4,087,991
Ensembl chrNW_004936528:3,923,379...4,087,188
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Plau
plasminogen activator, urokinase
severity
ISO
protein:increased expression:sputum, neutrophil
RGD
PMID:17651644 PMID:20624254
RGD:6483803 RGD:6484146
NCBI chrNW_004936521:5,238,128...5,243,829
Ensembl chrNW_004936521:5,238,093...5,243,877
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Plaur
plasminogen activator, urokinase receptor
ISO
protein:increased expression:bronchus
RGD
PMID:17651644
RGD:6484146
NCBI chrNW_004936706:840,968...855,552
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:16380766
RGD:8547571
NCBI chrNW_004936585:4,954,871...4,979,560
Ensembl chrNW_004936585:4,954,869...4,979,591
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Ppargc1a
PPARG coactivator 1 alpha
ISO
RGD
PMID:20732852
RGD:6484530
NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
DNA:polymorphism: :g.-765G>C (human) protein:increased expression:sputum
RGD
PMID:15949313 PMID:21655952
RGD:5135277 RGD:5143926
NCBI chrNW_004936481:3,821,564...3,828,086
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:34331613
RGD:155663371
NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813
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Rnasel
ribonuclease L
ISO
RGD
PMID:23913960
RGD:40902622
NCBI chrNW_004936481:7,165,400...7,177,342
Ensembl chrNW_004936481:7,165,353...7,177,538
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Rtel1
regulator of telomere elongation helicase 1
ameliorates
ISO
DNA:SNP:cds:rs4809324 (human)
RGD
PMID:28360516
RGD:152985694
NCBI chrNW_004936514:10,920,979...10,954,483
Ensembl chrNW_004936514:10,922,322...10,954,402
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Scgb1a1
secretoglobin family 1A member 1
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chrNW_004936581:798,738...801,614
Ensembl chrNW_004936581:798,739...801,633
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Selp
selectin P
severity
ISO
protein:increased expression:plasma
RGD
PMID:20646456
RGD:6478682
NCBI chrNW_004936481:17,076,660...17,112,501
Ensembl chrNW_004936481:17,076,536...17,107,963
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Serpina3
serpin family A member 3
susceptibility
ISO
DNA:polymorphism:exon:p.A-15T (human) ClinVar Annotator: match by term: ANTICHYMOTRYPSIN BONN 1
RGD ClinVar
PMID:1351206 PMID:8102759 PMID:8244391 PMID:10849024 PMID:25741868
RGD:5147441
NCBI chrNW_004936846:174,411...182,053
Ensembl chrNW_004936846:174,233...182,203
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Serpine1
serpin family E member 1
ISO
protein:increased expression:bronchus
RGD
PMID:11929177 PMID:17651644
RGD:4144041 RGD:6484146
NCBI chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123
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Sftpb
surfactant protein B
susceptibility severity
ISO
DNA:polymorphism: :1580C>T (human) DNA:SNPs: :multiple (human) DNA:SNP: :p.T131I (rs1130866) (human)
RGD
PMID:11589345 PMID:15315329 PMID:15817713 PMID:18550614
RGD:4143290 RGD:4143396 RGD:4143402 RGD:4143423
NCBI chrNW_004936712:1,614,979...1,621,207
Ensembl chrNW_004936712:1,614,979...1,622,466
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Sftpc
surfactant protein C
disease_progression
ISO
DNA:polymorphism: :186A>G (human)
RGD
PMID:18038590
RGD:4144115
NCBI chrNW_004936555:5,966,610...5,982,083
Ensembl chrNW_004936555:5,979,417...5,982,011
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Sftpd
surfactant protein D
severity susceptibility
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum DNA:SNP: :p.A160T (human) DNA:SNPs: :multiple (human)
RGD CTD
PMID:18310480 PMID:19797132 PMID:20075511 PMID:20448057 PMID:28166215
RGD:4143281 RGD:4143487 RGD:4143492 RGD:4143501
NCBI chrNW_004936716:60,754...73,010
Ensembl chrNW_004936716:60,656...73,099
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Slc22a5
solute carrier family 22 member 5
treatment
ISO
RGD
PMID:32707498
RGD:597538521
NCBI chrNW_004936647:2,774,063...2,798,585
Ensembl chrNW_004936647:2,773,768...2,798,511
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Slc6a4
solute carrier family 6 member 4
susceptibility
ISO
DNA:SNP: :rs2020936 (human)
RGD
PMID:20981038
RGD:4889426
NCBI chrNW_004936538:6,205,268...6,239,062
Ensembl chrNW_004936538:6,205,251...6,239,083
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Smad4
SMAD family member 4
treatment
ISO
RGD
PMID:18375249
RGD:9999419
NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123
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Smpd3
sphingomyelin phosphodiesterase 3
ISO
protein:increased expression:lung:
RGD
PMID:20448054
RGD:10041059
NCBI chrNW_004936475:18,667,563...18,755,132
Ensembl chrNW_004936475:18,671,428...18,755,208
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Stat4
signal transducer and activator of transcription 4
ISO
protein:increased expression:lung
RGD
PMID:24321062
RGD:8661725
NCBI chrNW_004936506:7,091,982...7,185,938
Ensembl chrNW_004936506:7,095,009...7,184,689
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
associated with Haemophilus Infections;mRNA, protein:increased expression:lung (mouse)
RGD
PMID:29421524
RGD:39128228
NCBI chrNW_004936531:8,555,966...8,562,829
Ensembl chrNW_004936531:8,555,637...8,562,885
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Tab2
TGF-beta activated kinase 1 (MAP3K7) binding protein 2
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:34331613
RGD:155663371
NCBI chrNW_004936489:2,371,953...2,421,882
Ensembl chrNW_004936489:2,372,216...2,424,515
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
PMID:25346280 PMID:25741868 PMID:28492532 PMID:30523342 PMID:30791107
NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
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Tgfb1
transforming growth factor beta 1
no_association susceptibility
ISO
DNA:polymorphisms: :509C>T, 869T>C (human) protein:increased expression:plasma CTD Direct Evidence: marker/mechanism DNA:SNP:exon:869T>C (human)
RGD CTD
PMID:16365456 PMID:18269849 PMID:19186046 PMID:20193474 PMID:31349846
RGD:4145115 RGD:4145140 RGD:4145292
NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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Timp1
TIMP metallopeptidase inhibitor 1
treatment
ISO
RGD
PMID:25842729
RGD:13207319
NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248
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Tlr4
toll like receptor 4
susceptibility
ISO
DNA:polymorphism:blood cells ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset
RGD ClinVar
PMID:10835634 PMID:12124407 PMID:15547160 PMID:15829498 PMID:16879199 PMID:17704786 PMID:20169003 PMID:25741868 PMID:26079505 PMID:26174031 More...
RGD:4144119
NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095
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Tnf
tumor necrosis factor
disease_progression no_association
ISO
DNA:polymorphism: :c. 489G>A (human) CTD Direct Evidence: marker/mechanism DNA;polymorphism: :rs361525 (human) DNA:SNPs:promoter DNA:polymorphism:promoter protein:increased expression:sputum protein:increased expression:serum DNA:SNP:promoter:c.-308 G>A (human)
RGD CTD
PMID:8564092 PMID:11179116 PMID:12537602 PMID:15337792 PMID:15820084 PMID:20299531 PMID:20352242 PMID:20500811 PMID:29497291 PMID:34652871 More...
RGD:4143270 RGD:4143272 RGD:4143273 RGD:4143391 RGD:4143421 RGD:4143424 RGD:4145714
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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Tnfrsf1a
TNF receptor superfamily member 1A
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:19643942
RGD:5131203
NCBI chrNW_004936709:1,407,327...1,421,448
Ensembl chrNW_004936709:1,407,278...1,421,921
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Tnfrsf1b
TNF receptor superfamily member 1B
severity
ISO
protein:increased expression:sputum (human)
RGD
PMID:21037022
RGD:5131154
NCBI chrNW_004936474:908,414...935,765
Ensembl chrNW_004936474:908,485...934,177
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29984229
NCBI chrNW_004936474:814,510...889,851
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29984229
NCBI chrNW_004936487:4,057,637...4,081,207
Ensembl chrNW_004936487:4,057,643...4,081,207
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Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18068611
NCBI chrNW_004936567:3,052,167...3,069,077
Ensembl chrNW_004936567:3,056,845...3,068,887
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Tollip
toll interacting protein
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chrNW_004936816:216,542...245,545
Ensembl chrNW_004936816:216,546...245,606
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17274270
NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
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Trpv4
transient receptor potential cation channel subfamily V member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21245013
NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516
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Vdr
vitamin D receptor
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
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Vegfa
vascular endothelial growth factor A
treatment
ISO
protein:increased expression:lung
RGD
PMID:15681497 PMID:20705587
RGD:10755705 RGD:5684420
NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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Xrcc5
X-ray repair cross complementing 5
susceptibility
ISO
DNA:SNPs:multiple (human)
RGD
PMID:20463177
RGD:8698653
NCBI chrNW_004936586:1,055,478...1,137,924
Ensembl chrNW_004936586:1,055,335...1,137,984
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Cftr
CF transmembrane conductance regulator
susceptibility
ISO
associated with pulmonary disease chronic obstructive; DNA:missense mutation:exon:p.R75Q(human) DNA:deletion: :F508del(human)
RGD
PMID:10767489 PMID:15463907
RGD:4140475 RGD:4140484
NCBI chrNW_004936589:1,565,933...1,719,208
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Ctla4
cytotoxic T-lymphocyte associated protein 4
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:19386687
RGD:4891509
NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
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Edn1
endothelin 1
ISO
Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse)
RGD
PMID:18631350
RGD:4145074
NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772
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Gc
GC vitamin D binding protein
susceptibility
ISO
RGD
PMID:12096683
RGD:5129516
NCBI chrNW_004936598:3,220,029...3,256,091
Ensembl chrNW_004936598:3,219,991...3,261,629
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Icam1
intercellular adhesion molecule 1
ISO
protein:increased expression:bronchial epithelium (rat)
RGD
PMID:19507274
RGD:2308951
NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
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Il10
interleukin 10
ISO
protein:decreased expression:lung
RGD
PMID:19507274
RGD:2308951
NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502
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Il13
interleukin 13
ISO
protein:increased expression:Respiratory Mucosa
RGD
PMID:14582911
RGD:4759835
NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373
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Il15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chrNW_004936535:6,344,348...6,358,803
Ensembl chrNW_004936535:6,344,395...6,350,197
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LOC101968920
eotaxin
ISO
RGD
PMID:11991282
RGD:4145442
NCBI chrNW_004936538:835,436...848,907
Ensembl chrNW_004936538:835,859...837,710 Ensembl chrNW_004936538:835,859...837,710
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LOC101969148
cytochrome P450 1A1
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:15928955
RGD:4142512
NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332
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LOC101973029
cytochrome P450 2E1
ISO
DNA:polymorphism (human)
RGD
PMID:14593914
RGD:4889126
NCBI chrNW_004936486:19,691,822...19,702,684
Ensembl chrNW_004936486:19,691,822...19,702,102
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Mpo
myeloperoxidase
ISO
protein:increased expression:lung
RGD
PMID:11798689
RGD:5130990
NCBI chrNW_004936490:4,809,773...4,819,070
Ensembl chrNW_004936490:4,809,631...4,819,070
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Nos2
nitric oxide synthase 2
ISO
RGD
PMID:19938219
RGD:4891494
NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
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Npy
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9731035
NCBI chrNW_004936478:1,289,437...1,296,819
Ensembl chrNW_004936478:1,290,505...1,296,874
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19263519
NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:20935231
RGD:5686887
NCBI chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928
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Ager
advanced glycosylation end-product specific receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30659203
NCBI chrNW_004936727:1,418,342...1,422,005
Ensembl chrNW_004936727:1,418,799...1,422,147
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Bloc1s6
biogenesis of lysosomal organelles complex 1 subunit 6
ISO
OMIM:130700
MouseDO
NCBI chrNW_004936471:8,209,091...8,226,249
Ensembl chrNW_004936471:8,209,057...8,226,353
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Chi3l1
chitinase 3 like 1
ISO
RGD
PMID:20656949
RGD:4892658
NCBI chrNW_004936567:1,411,080...1,418,332
Ensembl chrNW_004936567:1,411,037...1,418,801
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Clptm1l
CLPTM1 like
severity
ISO
associated with smoking; DNA:SNP:intron:rs31489(human)
RGD
PMID:21622582
RGD:150530642
NCBI chrNW_004936815:421,996...445,577
Ensembl chrNW_004936815:428,920...445,750
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Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:19537526
RGD:11039438
NCBI chrNW_004936490:15,142,526...15,146,375
Ensembl chrNW_004936490:15,142,808...15,144,487
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:18772344
RGD:4891888
NCBI chrNW_004936475:9,443,851...9,454,715
Ensembl chrNW_004936475:9,443,733...9,455,062
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:lung, lymphocyte
RGD
PMID:15526056
RGD:4892104
NCBI chrNW_004936676:60,869...63,028
Ensembl chrNW_004936676:60,621...63,106
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:lung, lymphocyte
RGD
PMID:15526056
RGD:4892104
NCBI chrNW_004936676:33,580...40,323
Ensembl chrNW_004936676:32,128...40,329
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:15526056
RGD:4892104
NCBI chrNW_004936762:66,636...69,694
Ensembl chrNW_004936762:66,636...69,373
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Defb1
defensin beta 1
ISO
mRNA:decreased expression:lung
RGD
PMID:18699806
RGD:4892249
NCBI chrNW_004936615:4,780,229...4,790,516
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Ednra
endothelin receptor type A
ISO
RGD
PMID:19897563
RGD:4892307
NCBI chrNW_004936535:1,950,117...2,005,786
Ensembl chrNW_004936535:1,949,941...2,005,910
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Egr1
early growth response 1
resistance
ISO
associated with Tobacco Use Disorder;protein:increased expression:lung, epithelial cell (mouse) mRNA, protein:increased expression:lung (human)
RGD
PMID:11021835 PMID:16601242 PMID:18830406
RGD:5131853 RGD:5131892 RGD:5131973
NCBI chrNW_004936531:7,625,956...7,629,041
Ensembl chrNW_004936531:7,625,892...7,629,749
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Eln
elastin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25106431
NCBI chrNW_004936543:3,135,169...3,165,023
G
Ephx1
epoxide hydrolase 1
susceptibility no_association
ISO
DNA:SNP:exon:p.Y113H (rs1051740) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human)
RGD CTD
PMID:9288046 PMID:10853854 PMID:12579334 PMID:20525719
RGD:1601065 RGD:4140935 RGD:4889405 RGD:4889406
NCBI chrNW_004936526:2,589,254...2,652,831
Ensembl chrNW_004936526:2,614,059...2,653,286
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Fga
fibrinogen alpha chain
ISO
protein:increased expression:plasma (rat)
RGD
PMID:20949089
RGD:11040553
NCBI chrNW_004936576:1,322,406...1,329,743
G
Fstl1
follistatin like 1
ISO
OMIM:130700
MouseDO
NCBI chrNW_004936536:7,132,369...7,186,951
Ensembl chrNW_004936536:7,126,966...7,187,269
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Fut8
fucosyltransferase 8
ISO
OMIM:130700
MouseDO
NCBI chrNW_004936495:9,012,425...9,341,538
Ensembl chrNW_004936495:9,115,938...9,344,068
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Gclc
glutamate-cysteine ligase catalytic subunit
ISO
RGD
PMID:19879314
RGD:5134681
NCBI chrNW_004936476:7,371,270...7,418,756
Ensembl chrNW_004936476:7,371,149...7,418,958
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Gstm3
glutathione S-transferase mu 3
ISO
RGD
PMID:19723343
RGD:5135041
NCBI chrNW_004936704:1,233,909...1,236,864
Ensembl chrNW_004936704:1,233,780...1,237,329
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Gstp1
glutathione S-transferase pi 1
ISO
associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP (human)
RGD
PMID:20525719
RGD:4140935
NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050
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Hdac2
histone deacetylase 2
treatment
ISO
mRNA,proetin:increased expression,increased activity,hyperphosphorylation,hypercarbonylation:lung:
RGD
PMID:23326540 PMID:24040961
RGD:9590245 RGD:9590320
NCBI chrNW_004936679:2,448,676...2,474,641
Ensembl chrNW_004936679:2,448,390...2,474,641
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Hhip
hedgehog interacting protein
ISO
DNA:haplotype insufficiency: :
RGD
PMID:25763110
RGD:11552596
NCBI chrNW_004936535:4,210,305...4,305,930
Ensembl chrNW_004936535:4,210,305...4,305,930
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Hmox1
heme oxygenase 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats)
CTD RGD
PMID:10631150
RGD:1601606
NCBI chrNW_004936492:5,042,353...5,049,216
Ensembl chrNW_004936492:5,042,330...5,049,311
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Il13
interleukin 13
ISO
RGD
PMID:11067861
RGD:4145652
NCBI chrNW_004936647:2,529,933...2,532,503
Ensembl chrNW_004936647:2,530,491...2,532,373
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Il17ra
interleukin 17 receptor A
ISO
RGD
PMID:21647421
RGD:5144212
NCBI chrNW_004936807:143,165...165,820
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Il18
interleukin 18
ISO
mRNA, protein:increased expression:respiratory system fluid/secretion, macrophage
RGD
PMID:17400729 PMID:23392573
RGD:4889590 RGD:8655969
NCBI chrNW_004936612:2,306,963...2,325,086
Ensembl chrNW_004936612:2,306,875...2,325,189
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Il1rl1
interleukin 1 receptor like 1
treatment
ISO
associated with common cold;
RGD
PMID:30952808
RGD:40400740
NCBI chrNW_004936713:1,020,969...1,035,012
Ensembl chrNW_004936713:1,021,044...1,035,039
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Itgb6
integrin subunit beta 6
ISO
CTD Direct Evidence: marker/mechanism OMIM:130700
RGD CTD MouseDO
PMID:12634787
RGD:737734
NCBI chrNW_004936469:18,581,855...18,650,109
Ensembl chrNW_004936469:18,581,840...18,650,123
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
OMIM:130700
MouseDO
NCBI chrNW_004936522:3,034,364...3,037,632
Ensembl chrNW_004936522:3,035,346...3,036,350
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Keap1
kelch like ECH associated protein 1
onset
ISO
protein:increased expression:lung (human)
RGD
PMID:18559366 PMID:19520915
RGD:5134973 RGD:6893395
NCBI chrNW_004936659:785,059...793,775
Ensembl chrNW_004936659:782,340...793,688
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Kl
klotho
ISO
OMIM:130700
MouseDO
NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086
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LOC101961846
neutrophil elastase
ISO
RGD
PMID:12186827
RGD:10450557
NCBI chrNW_004936588:345,678...347,420
Ensembl chrNW_004936588:345,678...347,413
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LOC101968920
eotaxin
disease_progression
ISO
associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:lung
RGD
PMID:17983873
RGD:4145393
NCBI chrNW_004936538:835,436...848,907
Ensembl chrNW_004936538:835,859...837,710 Ensembl chrNW_004936538:835,859...837,710
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Lox
lysyl oxidase
ISO
ClinVar Annotator: match by term: Pulmonary emphysema
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004936575:2,526,067...2,533,996
Ensembl chrNW_004936575:2,524,342...2,533,559
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Mmp1
matrix metallopeptidase 1
ISO
DNA:insertion:promoter:g.-1607insG rs1799750 (human)
RGD
PMID:17363767
RGD:4890375
NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857
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Mmp12
matrix metallopeptidase 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12634787 PMID:25106431
NCBI chrNW_004936551:5,107,567...5,117,843
Ensembl chrNW_004936551:5,106,285...5,117,843
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:lung CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19897563 PMID:25106431
RGD:4892307
NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
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Mmp9
matrix metallopeptidase 9
treatment
ISO
protein:increased activity:lung CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:14605041 PMID:18408070 PMID:19897563 PMID:25106431
RGD:4892307 RGD:5130151 RGD:8547887
NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
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Mus81
MUS81 structure-specific endonuclease subunit
ISO
OMIM:130700
MouseDO
NCBI chrNW_004936599:3,670,759...3,677,375
Ensembl chrNW_004936599:3,670,862...3,677,239
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
protein:decreased expression:lung:
RGD
PMID:18559366
RGD:5134973
NCBI chrNW_004936509:6,589,967...6,621,171
Ensembl chrNW_004936509:6,590,630...6,620,262
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Nfkbia
NFKB inhibitor alpha
treatment
ISO
RGD
PMID:20472710
RGD:4891488
NCBI chrNW_004936494:9,537,793...9,541,187
Ensembl chrNW_004936494:9,537,008...9,541,612
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Nos2
nitric oxide synthase 2
ISO
protein:increased expression:lung mRNA,protein:increased expression:lung
RGD
PMID:20472710 PMID:20956973 PMID:22000010
RGD:4891415 RGD:4891488 RGD:5509103
NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
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Nos3
nitric oxide synthase 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20956973
RGD:4891415
NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534
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Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
mRNA:decreased expression:lung
RGD
PMID:18559366
RGD:5134973
NCBI chrNW_004936475:19,771,384...19,785,034
Ensembl chrNW_004936475:19,769,488...19,785,311
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Pgf
placental growth factor
ISO
mRNA, protein:increased expression:lung, plasma
RGD
PMID:17023518
RGD:5135245
NCBI chrNW_004936488:4,098,187...4,111,108
Ensembl chrNW_004936488:4,098,225...4,111,142
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Ppargc1a
PPARG coactivator 1 alpha
ISO
RGD
PMID:23144332
RGD:7242020
NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:20472710
RGD:4891488
NCBI chrNW_004936481:3,821,564...3,828,086
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Ptma
prothymosin alpha
ISO
OMIM:130700
MouseDO
NCBI chrNW_004936525:5,253,723...5,258,300
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Scnn1b
sodium channel epithelial 1 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27982104
NCBI chrNW_004936501:8,021,090...8,065,245
Ensembl chrNW_004936501:8,020,316...8,065,332
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Sftpc
surfactant protein C
susceptibility
ISO
DNA:polymorphism: :138A>C, 186A>G (human)
RGD
PMID:18038590
RGD:4144115
NCBI chrNW_004936555:5,966,610...5,982,083
Ensembl chrNW_004936555:5,979,417...5,982,011
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Smo
smoothened, frizzled class receptor
ISO
OMIM:130700
MouseDO
NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281
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Smpd3
sphingomyelin phosphodiesterase 3
ISO
protein:increased expression:lung:
RGD
PMID:20448054
RGD:10041059
NCBI chrNW_004936475:18,667,563...18,755,132
Ensembl chrNW_004936475:18,671,428...18,755,208
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Srfbp1
serum response factor binding protein 1
ISO
ClinVar Annotator: match by term: Pulmonary emphysema
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004936575:2,430,074...2,493,311
Ensembl chrNW_004936575:2,430,015...2,493,329
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Tacr1
tachykinin receptor 1
ISO
RGD
PMID:19445658
RGD:5147818
NCBI chrNW_004936556:1,266,621...1,421,271
Ensembl chrNW_004936556:1,266,613...1,421,275
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Tgfb1
transforming growth factor beta 1
severity
ISO
CTD Direct Evidence: therapeutic associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs:promoter:rs1800469, rs1982073 (human)
CTD RGD
PMID:12634787 PMID:18670143
RGD:4145272
NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
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Tlr2
toll like receptor 2
ISO
protein:increased expression:alveolar macrophage
RGD
PMID:18399852
RGD:4145342
NCBI chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788
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Tlr4
toll like receptor 4
ISO
OMIM:130700
RGD MouseDO
PMID:17053835
RGD:4144170
NCBI chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25106431
NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766
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