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 .
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ABCC1
ATP binding cassette subfamily C member 1
severity
ISO
DNA:SNPs: :rs212093, rs4148382 (human) mRNA:decreased expression:respiratory epithelial cell
RGD
PMID:12930913 PMID:20487524
RGD:5128824 RGD:5128827
NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,873...28,473,456
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ACE
angiotensin I converting enzyme
susceptibility disease_progression
ISO
DNA:polymorphism (human)
RGD
PMID:19493329 PMID:20096799 PMID:20156752
RGD:4140480 RGD:4140487 RGD:4140912
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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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 chr17:32,023,102...32,038,464
Ensembl chr17:32,023,091...32,037,880
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ADAM9
ADAM metallopeptidase domain 9
ISO
protein:increased expression:pulmonary artery
RGD
PMID:36522710
RGD:401850545
NCBI chr15:47,523,768...47,601,722
Ensembl chr15:47,523,771...47,601,710
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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 chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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ADORA2A
adenosine A2a receptor
ISO
RGD
PMID:16339780
RGD:4890385
NCBI chr14:49,467,186...49,485,845
Ensembl chr14:49,468,877...49,485,850
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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 chr14:124,400,330...124,401,739
Ensembl chr14:124,400,330...124,401,739
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ADRB2
adrenoceptor beta 2
severity no_association disease_progression
ISO
DNA:SNP: :p.R16G (human) DNA:SNPs: :rs1042717, rs1042718 (human) DNA:polymorphism: :p.Q27E (human) DNA:SNPs: :p.R16G, p.Q27E (human) protein:decreased expression:blood, sputum, mononuclear cell
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 chr 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731
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AGER
advanced glycosylation end-product specific receptor
ISO
ClinVar Annotator: match by term: COPD, severe early onset
ClinVar
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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ANG
angiogenin
ISO
protein:increased expression:sputum
RGD
PMID:21916917
RGD:6892708
NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138
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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 chr 7:49,259,118...49,450,471
Ensembl chr 7:49,259,651...49,450,461
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ARNTL2
aryl hydrocarbon receptor nuclear translocator like 2
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 5:46,289,873...46,482,369
Ensembl chr 5:46,290,001...46,482,461
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BAMBI
BMP and activin membrane bound inhibitor
ISO
mRNA:increased expression:CD4+ T :
RGD
PMID:27549738
RGD:14390164
NCBI chr10:40,053,368...40,058,590
Ensembl chr10:40,053,355...40,060,319
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BCL2L1
BCL2 like 1
ISO
mRNA:increased expression:peripheral blood, neutrophil (human)
RGD
PMID:22686245
RGD:11353864
NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694
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BDKRB2
bradykinin receptor B2
ISO
RGD
PMID:16600946
RGD:4890451
NCBI chr 7:117,438,622...117,472,005
Ensembl chr 7:117,438,713...117,472,005
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BNIP3
BCL2 interacting protein 3
treatment
ISO
RGD
PMID:25888379
RGD:11561985
NCBI chr14:140,362,123...140,371,951
Ensembl chr14:140,362,127...140,371,907
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C3
complement C3
ISO
protein:increased expression:lung
RGD
PMID:17975205
RGD:5129504
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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C5
complement C5
severity
ISO
protein:increased expression:sputum
RGD
PMID:20500690
RGD:5129705
NCBI chr 1:260,995,662...261,088,868
Ensembl chr 1:260,995,668...261,133,483
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C5AR1
complement C5a receptor 1
ISO
protein:increased expression:lung, mast cell
RGD
PMID:19926870
RGD:5130165
NCBI chr 6:53,097,162...53,111,563
Ensembl chr 6:53,097,142...53,111,565
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CASP3
caspase 3
treatment
ISO
RGD
PMID:28496315
RGD:13782303
NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
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CASP8
caspase 8
treatment
ISO
RGD
PMID:28496315
RGD:13782303
NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468
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CAT
catalase
ISO
RGD
PMID:20080081
RGD:4293707
NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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CCL1
C-C motif chemokine ligand 1
severity
ISO
DNA:SNP:enhancer:rs2282691 (human)
RGD
PMID:16864713
RGD:4891410
NCBI chr12:40,728,014...40,731,411
Ensembl chr12:40,728,014...40,731,411
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CCL11
chemokine (C-C motif) ligand 11
severity
ISO
RGD
PMID:19925666
RGD:4145389
NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
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CCL17
C-C motif chemokine ligand 17
ISO
mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion
RGD
PMID:18684970
RGD:4145489
NCBI chr 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
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CCL2
chemokine (C-C motif) ligand 2
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20497022 PMID:34652871
RGD:4891429
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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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 chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737
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CCL4
C-C motif chemokine ligand 4
ISO
RGD
PMID:11475557 PMID:17868461
RGD:5130900 RGD:5130901
NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
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CCL5
C-C motif chemokine ligand 5
ISO
mRNA, protein:increased expression:lung, bronchial epithelium, submucosa (human)
RGD
PMID:19703829
RGD:4891477
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
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CCL8
chemokine (C-C motif) ligand 8
ISO
RGD
PMID:20970515
RGD:5131087
NCBI chr12:40,740,468...40,741,970
Ensembl chr12:40,740,023...40,742,022
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CCN2
cellular communication network factor 2
ISO
mRNA, protein:increased expression:lung (rat)
RGD
PMID:19659652
RGD:2314483
NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691
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CCR2
C-C motif chemokine receptor 2
ISO
protein:increased expression:respiratory system fluid/secretion, neutrophil
RGD
PMID:19017998
RGD:4145632
NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,286,467
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CCR5
C-C motif chemokine receptor 5
ISO
protein:increased expression:blood (human)
RGD
PMID:19229703
RGD:4892070
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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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 chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935
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CD40
CD40 molecule
severity
ISO
RGD
PMID:20699612
RGD:5490968
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD80
CD80 molecule
ISO
RGD
PMID:19729666
RGD:4892292
NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976
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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 chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
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CD8A
CD8 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17950725
NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
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CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35303175
NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761
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CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35303175
NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854
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CFTR
CF transmembrane conductance regulator
disease_progression
ISO
DNA:polymorphism:cds:p.M470V(human)
RGD
PMID:18652532
RGD:4140431
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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CHI3L1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:20656949
RGD:4892658
NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
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CHRM3
cholinergic receptor muscarinic 3
ISO
RGD
PMID:19281093
RGD:5133441
NCBI chr14:51,818,625...52,363,662
Ensembl chr14:51,828,231...51,830,003
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CHRNA3
cholinergic receptor nicotinic alpha 3 subunit
disease_progression susceptibility
ISO
associated with smoking; DNA:SNP: :rs1051730(human) associated with smoking; DNA:SNP::rs1051730(human) DNA:SNP: :rs12910984(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 chr 7:47,361,710...47,382,743
Ensembl chr 7:47,361,899...47,384,303
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CHRNA5
cholinergic receptor nicotinic alpha 5 subunit
susceptibility
ISO
associated with smoking; DNA:SNP::rs16969968 (human) associated with lung cancer; DNA:SNP::rs16969968 (human)
RGD
PMID:29993116 PMID:33419953
RGD:150524357 RGD:150526806
NCBI chr 7:47,382,860...47,425,871
Ensembl chr 7:47,383,792...47,425,841
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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 chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123
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CHRNB4
cholinergic receptor nicotinic beta 4 subunit
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr 7:47,338,819...47,359,064
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CLCA1
chloride channel accessory 1
severity
ISO
mRNA:increased expression:bronchus DNA:SNPs: :multiple (human)
RGD
PMID:14985398 PMID:17637221
RGD:1331524 RGD:4145655
NCBI chr 4:129,621,259...129,655,385
Ensembl chr 4:129,620,874...129,655,385
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COL1A1
collagen type I alpha 1 chain
ISO
RGD
PMID:15469929
RGD:5131854
NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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CRHR1
corticotropin releasing hormone receptor 1
treatment
ISO
DNA:SNP:intron: (rs242941) (human)
RGD
PMID:19210659
RGD:11097322
NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
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CRP
C-reactive protein, pentraxin-related
severity
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21468168 PMID:21506665 PMID:29329563
RGD:5131278 RGD:5131279
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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CSF2
colony stimulating factor 2
ISO
protein:increased expression:sputum
RGD
PMID:19213775
RGD:5131476
NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
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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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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CXCL10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:sputum
RGD
PMID:17925429
RGD:5135436
NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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CXCL11
C-X-C motif chemokine ligand 11
ISO
protein:increased expression:sputum
RGD
PMID:17925429
RGD:5135436
NCBI chr 8:71,713,790...71,725,669
Ensembl chr 8:71,713,803...71,725,674
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CXCL2
chemokine (C-X-C motif) ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23099361
NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15337792 PMID:23099361 PMID:28864214
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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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 chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
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CXCR2
C-X-C motif chemokine receptor 2
severity
ISO
RGD
PMID:12857718
RGD:5135248
NCBI chr15:120,219,657...120,230,203
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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 chr X:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692
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CYBA
cytochrome b-245 alpha chain
susceptibility
ISO
DNA:polymorphism: :p.H72Y (human) DNA:polymorphisms: :-930A>G, 242C>T (human)
RGD
PMID:19567155 PMID:20080081
RGD:4293707 RGD:4304108
NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420
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CYP11A1
cytochrome P450 family 11 subfamily A member 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
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CYP19A3
cytochrome P450 19A3
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
severity no_association susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphisms: :2455A>G, 3801T>C (human) DNA:polymorphisms: :p.I462V, 3801T>C (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18389617 PMID:19022366 PMID:19507017 PMID:20080081
RGD:4293707 RGD:4892045 RGD:4892071
NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
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CYP1A2
cytochrome P450 family 1 subfamily A member 2
susceptibility
ISO
DNA:polymorphisms: :-3860G>A (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20080081 PMID:20797314
RGD:4293707
NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
DNA:polymorphisms: :-1293G>C, 7632T>A, 9893C>G (human)
RGD
PMID:17442289
RGD:4892219
NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
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CYP2R1
cytochrome P450 family 2 subfamily R member 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:44,375,432...44,394,122
Ensembl chr 2:44,375,520...44,396,334
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CYP46A1
cytochrome P450 family 46 subfamily A member 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 7:120,658,781...120,695,031
Ensembl chr 7:120,661,111...120,695,016
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CYP4A90
cytochrome P450 family 4 subfamily A member 90
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 6:128,704,964...128,722,878
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CYP4B1
cytochrome P450 family 4 subfamily B member 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 6:164,718,393...164,737,693
Ensembl chr 6:164,718,444...164,737,552
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DDIT3
DNA damage inducible transcript 3
treatment
ISO
RGD
PMID:24694971
RGD:13782182
NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829
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DEFB1
defensin beta 1
no_association susceptibility
ISO
DNA:polymorphism (human) DNA:SNPs: :multiple (human) DNA:polymorphism: :668C>G (human)
RGD
PMID:11829455 PMID:15569478 PMID:16700921
RGD:1331523 RGD:4892251 RGD:4892257
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DSP
desmoplakin
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623
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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 chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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EEFSEC
eukaryotic elongation factor, selenocysteine-tRNA specific
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28166215
NCBI chr13:72,041,409...72,196,345
Ensembl chr13:72,020,305...72,195,930
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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 chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
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EGR1
early growth response 1
ISO
associated with Tobacco Use Disorder;mRNA:increased expression:lung (human)
RGD
PMID:15469929 PMID:20417178
RGD:5131854 RGD:5131878
NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
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ELN
elastin
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16081882 PMID:25106431
RGD:1580326
NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897
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EPHX1
epoxide hydrolase 1
susceptibility no_association
ISO
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) DNA:SNP:exon:p.H139R (rs2234922) (human) DNA:polymorphism DNA:SNPs: :multiple (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:9288046 PMID:17564249 PMID:18614560 PMID:18811882 PMID:20932192
RGD:1601065 RGD:4889120 RGD:4889121 RGD:4889122 RGD:4889123
NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,751,881...13,773,072
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ERBB3
erb-b2 receptor tyrosine kinase 3
ISO
protein:increased expression:lung
RGD
PMID:17908459
RGD:2289953
NCBI chr 5:21,474,218...21,495,040
Ensembl chr 5:21,474,475...21,495,038
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F2
coagulation factor II, thrombin
severity
ISO
RGD
PMID:21660493
RGD:5147752
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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F2RL1
F2R like trypsin receptor 1
ISO
RGD
PMID:21245013
RGD:4892586
NCBI chr 2:85,732,082...85,747,552
Ensembl chr 2:85,732,189...85,750,858
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FAIM2
Fas apoptotic inhibitory molecule 2
ISO
RGD
PMID:29208459
RGD:13792601
NCBI chr 5:15,779,329...15,813,029
Ensembl chr 5:15,779,334...15,812,543
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FAM13A
family with sequence similarity 13 member A
susceptibility
ISO
DNA:SNP: :rs7671167 (human) ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
RGD ClinVar
PMID:25928290
RGD:11552597
NCBI chr 8:130,021,581...130,327,731
Ensembl chr 8:130,021,643...130,327,729
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FAS
Fas cell surface death receptor
ISO
RGD
PMID:29208459
RGD:13792601
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FASLG
Fas ligand
ISO
RGD
PMID:29208459
RGD:13792601
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
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FLT1
fms related receptor tyrosine kinase 1
ISO
protein:increased expression:lung
RGD
PMID:15681497
RGD:5684420
NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
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FOXO3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23099361
NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
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GC
GC vitamin D binding protein
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
PMID:28492532
NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
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GRIK5
glutamate ionotropic receptor kainate type subunit 5
susceptibility
ISO
DNA:SNP: :rs8099939
RGD
PMID:28900078
RGD:401900295
NCBI chr 6:49,840,671...49,901,656
Ensembl chr 6:49,845,656...49,902,080
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GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
susceptibility
ISO
DNA:SNP: :rs2268132
RGD
PMID:28900078
RGD:401900295
NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,528...58,927,558
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GZMA
granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)
ISO
RGD
PMID:20047264
RGD:5135520
NCBI chr16:34,282,160...34,290,422
Ensembl chr16:34,282,120...34,290,477
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GZMB
granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
ISO
RGD
PMID:20540777
RGD:5135516
NCBI chr 7:74,705,499...74,708,781
Ensembl chr 7:74,705,409...74,708,790
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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 chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
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HDAC8
histone deacetylase 8
severity
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:15888697
RGD:13208820
NCBI chr X:58,210,182...58,450,681
Ensembl chr X:58,210,192...58,450,573
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HHIP
hedgehog interacting protein
susceptibility
ISO
DNA:SNPs: :rs11100865, rs7654947(human) ClinVar Annotator: match by term: Chronic obstructive pulmonary disease, biomass related DNA:SNP: :rs13118928(human)
RGD ClinVar
PMID:19996190 PMID:25928290
RGD:11552597 RGD:11552598
NCBI chr 8:83,583,735...83,678,368
Ensembl chr 8:83,583,739...83,679,136
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26752192
NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
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HMOX1
heme oxygenase 1
severity susceptibility treatment
ISO
DNA:polymorphism:promoter 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
RGD OMIM ClinVar
PMID:9884342 PMID:17203192 PMID:17254481 PMID:20705587 PMID:21088618 PMID:25741868 PMID:28492532 More...
RGD:10755705 RGD:4145371 RGD:4145372
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HP
haptoglobin
ISO
RGD
PMID:21471098
RGD:5144151
NCBI chr 6:14,980,382...14,985,245
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HSPA1L
heat shock protein family A (Hsp70) member 1 like
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr 7:23,909,960...23,938,678
Ensembl chr 7:23,910,079...23,914,517
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HSPA4
heat shock protein family A (Hsp70) member 4
no_association
ISO
protein:increased expression:bronchial mucosa (human) protein:increased expression:serum (human)
RGD
PMID:19350847 PMID:22140545
RGD:5688779 RGD:5688781
NCBI chr 2:135,345,724...135,391,112
Ensembl chr 2:135,345,867...135,391,108
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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 chr11:20,555,939...20,620,225
Ensembl chr11:20,555,963...20,619,625
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HYKK
hydroxylysine kinase
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr 7:47,451,822...47,474,778
Ensembl chr 7:47,449,036...47,474,648
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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 chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IL12B
interleukin 12B
ISO
DNA:polymorphism: :
RGD
PMID:19279357
RGD:4145423
NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
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IL13
interleukin 13
no_association susceptibility
ISO
DNA:SNP:promoter:c.-1055 C>T (human) DNA:polymorphism:promoter:c.-1055C>T (human) DNA:polymorphisms:intron1,exon4s: rs2066960, rs20541, rs1295685 (human) DNA:polymorphism: :c. 1103C>T (human)
RGD
PMID:15308043 PMID:15820084 PMID:19796199 PMID:19995275
RGD:4145596 RGD:4145601 RGD:4145668 RGD:4145714
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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IL13RA1
interleukin 13 receptor subunit alpha 1
ISO
DNA:SNP: :rs2250747 (human)
RGD
PMID:19796199
RGD:4145601
NCBI chr X:97,300,960...97,353,754
Ensembl chr X:97,300,466...97,356,133
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IL16
interleukin 16
ISO
protein:increased expression:lung
RGD
PMID:20079227
RGD:5024924
NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,973,938...50,102,346
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IL17A
interleukin 17A
ISO
protein:increased expression:lung, bronchioalveolar lavage fluid (rat) protein:increased expression:respiratory mucosa
RGD
PMID:16200865 PMID:19604272
RGD:4889104 RGD:9068943
NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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IL18
interleukin 18
ISO
protein:increased expression:sputum, macrophage protein:increased expression:serum
RGD
PMID:19208460 PMID:20026745
RGD:4889551 RGD:4889575
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL18BP
interleukin 18 binding protein
ISO
protein:increased expression:serum
RGD
PMID:20026745
RGD:4889551
NCBI chr 9:6,586,602...6,596,423
Ensembl chr 9:6,488,808...6,591,333
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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 chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
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IL1RN
interleukin 1 receptor antagonist
no_association susceptibility
ISO
protein:decreased expression:plasma DNA:polymorphism (human) DNA:polymorphism:intron (human)
RGD
PMID:18364273 PMID:18579366 PMID:19291375
RGD:4142861 RGD:4142866 RGD:4142868
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IL27
interleukin 27
ISO
DNA:polymorphisms: :-964A>G, 2905T>G (human)
RGD
PMID:18554158
RGD:5128484
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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IL33
interleukin 33
ISO
mRNA,protein:increased expression:lung:
RGD
PMID:30952808
RGD:40400740
NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
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IL5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:20858153
RGD:4890939
NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
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IL5RA
interleukin 5 receptor subunit alpha
ISO
protein:increased expression:serum
RGD
PMID:15286446
RGD:5128619
NCBI chr13:59,651,184...59,692,211
Ensembl chr13:59,652,271...59,690,176
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IL6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
CTD RGD
PMID:20819268 PMID:28864214 PMID:29329563 PMID:31349846
RGD:4143243
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IL9
interleukin 9
ISO
protein:increased expression:sputum, macrophage, cytoplasm
RGD
PMID:15303135
RGD:5128691
NCBI chr 2:138,048,943...138,052,588
Ensembl chr 2:138,048,943...138,052,588
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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 chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
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KDR
kinase insert domain receptor
ISO
protein:increased expression:lung
RGD
PMID:15681497
RGD:5684420
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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KLF5
KLF transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30639269
NCBI chr11:45,370,009...45,386,673
Ensembl chr11:45,369,810...45,388,314
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LEP
leptin
severity
ISO
protein:decreased expression:serum protein:increased expression:plasma DNA:polymorphism:promoter: -2548 G>A (human)
RGD
PMID:20021311 PMID:20854423 PMID:21367591
RGD:5128772 RGD:5128777 RGD:5128778
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
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LEPR
leptin receptor
disease_progression
ISO
protein:decreased expression:lung DNA:SNPs: :
RGD
PMID:19196818
RGD:5128813
NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
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LOC100739508
glutathione S-transferase P-like
no_association susceptibility
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 chr 2:5,005,498...5,009,247
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LOC110258578
interleukin-1 beta-like
no_association severity susceptibility
ISO
DNA:polymorphism: :-31T>C (human) DNA:polymorphisms: :-31T>C, -511C>T (human) DNA:polymorphisms: :-31T>C, 3953T>C (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
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LOC110261221
cytochrome P450 2J2-like
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 6:152,321,816...152,358,179
Ensembl chr 6:152,321,848...152,648,979
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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 chr15:9,612,805...11,499,969
Ensembl chr15:9,613,238...11,499,530
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MAP2K4
mitogen-activated protein kinase kinase 4
severity
ISO
RGD
PMID:20699612
RGD:5490968
NCBI chr12:56,402,029...56,516,217
Ensembl chr12:56,402,075...56,516,238
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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 chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057
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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 chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874
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MBL2
mannose binding lectin 2
ISO
protein:decreased secretion:lung (human) DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:19411612 PMID:20688922
RGD:4889421 RGD:4889448
NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
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MCAM
melanoma cell adhesion molecule
ISO
RGD
PMID:23649916
RGD:7364780
NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083
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MGST1
microsomal glutathione S-transferase 1
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 5:56,259,566...56,283,823
Ensembl chr 5:56,259,557...56,283,965
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MGST3
microsomal glutathione S-transferase 3
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
NCBI chr 4:85,069,603...85,095,022
Ensembl chr 4:85,069,607...85,094,981
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MIF
macrophage migration inhibitory factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26752192
NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
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MIR126
microRNA mir-126
ISO
RNA:decreased expression:lung
RGD
PMID:36522710
RGD:401850545
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MIR218B
microRNA mir-218b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28864214
NCBI chr16:55,115,926...55,116,009
Ensembl chr16:55,115,926...55,116,009
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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 chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
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MMP14
matrix metallopeptidase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19661247
NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928
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MMP9
matrix metallopeptidase 9
susceptibility treatment severity
ISO
DNA:polymorphism: :-1562C-->T (human) protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:-1562C-->T (human)
RGD CTD
PMID:18619044 PMID:19299917 PMID:19411568 PMID:20160424 PMID:25842729
RGD:13207319 RGD:5129494 RGD:5129553 RGD:5130149
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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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 chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
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MTCL1
microtubule crosslinking factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28166215
NCBI chr 6:99,062,347...99,178,570
Ensembl chr 6:99,062,354...99,178,468
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MUC1
mucin 1, cell surface associated
ISO
protein:increased expression:sputum (human)
RGD
PMID:21474912
RGD:5131160
NCBI chr 4:94,626,317...94,631,194
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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 chr 2:757,897...790,321
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MUC5B
mucin 5B, oligomeric mucus/gel-forming
ISO
protein:increased expression:sputum
RGD
PMID:18776153
RGD:5131169
NCBI chr 2:807,685...842,096
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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 chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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NOD2
nucleotide binding oligomerization domain containing 2
severity
ISO
DNA:SNP:intron: (rs1077861) (human)
RGD
PMID:21943069
RGD:5508720
NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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NOS1
nitric oxide synthase 1
severity
ISO
protein:increased expression:skeletal muscle mRNA, protein:increased expression:lung
RGD
PMID:12816735 PMID:19797159
RGD:5132607 RGD:5132628
NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944
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NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:lung
CTD RGD
PMID:12797490 PMID:21843929
RGD:4891444
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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NOS3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21843929
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
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NQO1
NAD(P)H quinone dehydrogenase 1
treatment susceptibility
ISO
protein, mRNA:decreased expression:lung DNA:polymorphisms: :465C>T, 609C>T (human)
RGD
PMID:18556627 PMID:19705749 PMID:28790194
RGD:13439712 RGD:5133267 RGD:5134980
NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590
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NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
protein:decreased expression:lung, lymphocyte
RGD
PMID:9926163 PMID:20450542
RGD:4892318 RGD:4892564
NCBI chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
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NTF3
neurotrophin 3
ISO
mRNA:decreased expression:bronchus
RGD
PMID:15843147
RGD:4891120
NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,519...65,123,788
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NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
protein:increased expression:bronchiolar epithelial cell
RGD
PMID:21429417
RGD:5684530
NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981
G
OBP2B
odorant binding protein 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28381600
NCBI chr 1:272,886,871...272,890,537
G
PDE3B
phosphodiesterase 3B
ISO
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:44,416,934...44,614,075
Ensembl chr 2:44,412,833...44,726,216
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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 chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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PLAUR
plasminogen activator, urokinase receptor
ISO
protein:increased expression:bronchus
RGD
PMID:17651644
RGD:6484146
NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
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PON1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:16380766
RGD:8547571
NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
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PPARGC1A
PPARG coactivator 1 alpha
ISO
RGD
PMID:20732852
RGD:6484530
NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
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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 chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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RAPGEF3
Rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363678
NCBI chr 5:78,101,286...78,134,150
Ensembl chr 5:78,101,299...78,134,105
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:34331613
RGD:155663371
NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
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RNASEL
ribonuclease L
ISO
RGD
PMID:23913960
RGD:40902622
NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398
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RTEL1
regulator of telomere elongation helicase 1
ameliorates
ISO
DNA:SNP:cds:rs4809324 (human)
RGD
PMID:28360516
RGD:152985694
NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690
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SCGB1A1
secretoglobin family 1A member 1
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr 2:9,297,282...9,302,204
Ensembl chr 2:9,297,283...9,302,165
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SELP
selectin P
severity
ISO
protein:increased expression:plasma
RGD
PMID:20646456
RGD:6478682
NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955
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SERPINA1
serpin family A member 1
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset
ClinVar
PMID:301355 PMID:1087161 PMID:1608473 PMID:1889260 PMID:2339709 PMID:2567291 PMID:2575668 PMID:2696185 PMID:2700304 PMID:2904702 PMID:2989709 PMID:3257660 PMID:3264419 PMID:3484754 PMID:3500183 PMID:3537008 PMID:3875547 PMID:6093867 PMID:6306478 PMID:6602622 PMID:7045697 PMID:7227484 PMID:7977369 PMID:8970361 PMID:9195389 PMID:9569237 PMID:10194472 PMID:11778003 PMID:12034572 PMID:14522813 PMID:15454649 PMID:15711957 PMID:15978931 PMID:15994391 PMID:16608528 PMID:17964515 PMID:18187064 PMID:18294358 PMID:18340647 PMID:18414213 PMID:18515255 PMID:18565211 PMID:18566672 PMID:19083091 PMID:19398551 PMID:19444872 PMID:19738092 PMID:19956452 PMID:20301692 PMID:20981092 PMID:21067581 PMID:21228398 PMID:21637600 PMID:21960536 PMID:22426792 PMID:22735536 PMID:22912729 PMID:22933512 PMID:22971141 PMID:22975760 PMID:23484243 PMID:23632999 PMID:23837941 PMID:23858502 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24328305 PMID:24428606 PMID:24518491 PMID:24592811 PMID:25181470 PMID:25454901 PMID:25637381 PMID:25738741 PMID:25741868 PMID:25966443 PMID:26141072 PMID:26243289 PMID:26304913 PMID:26310624 PMID:26647313 PMID:26672964 PMID:26771213 PMID:26831755 PMID:26987331 PMID:27153395 PMID:27246852 PMID:27465791 PMID:27535533 PMID:27959697 PMID:28146470 PMID:28492532 PMID:29083408 PMID:29153744 PMID:29232161 PMID:29431110 PMID:29618937 PMID:29644095 PMID:29882371 PMID:30068317 PMID:30068662 PMID:30254761 PMID:30585791 PMID:30739910 PMID:31028937 PMID:31216405 PMID:31447099 PMID:31564432 PMID:31980526 PMID:32087139 PMID:32699024 PMID:33144682 PMID:33726816 PMID:34408828 PMID:34408829 More...
NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645
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SERPINA3-2
alpha-1-antichymotrypsin 2
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 chr 7:115,978,453...115,987,392
Ensembl chr 7:115,976,397...115,987,453
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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 chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
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SFTPA1
surfactant protein A1
susceptibility
ISO
DNA:polymorphism:cds:c.186G>A (human) protein:increased expression:lung DNA:SNP:cds:p.L50V (human)
RGD
PMID:11589345 PMID:19367700 PMID:19797132
RGD:4143281 RGD:4143288 RGD:4143423
NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
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SFTPB
surfactant protein B
susceptibility severity
ISO
DNA:polymorphism: :1580C>T (human) DNA:SNP: :p.T131I (rs1130866) (human) DNA:SNPs: :multiple (human)
RGD
PMID:11589345 PMID:15315329 PMID:15817713 PMID:18550614
RGD:4143290 RGD:4143396 RGD:4143402 RGD:4143423
NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,981...59,112,396
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SFTPC
surfactant protein C
disease_progression
ISO
DNA:polymorphism: :186A>G (human)
RGD
PMID:18038590
RGD:4144115
NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
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SFTPD
surfactant protein D
severity susceptibility
ISO
protein:increased expression:serum DNA:SNPs: :multiple (human) CTD Direct Evidence: marker/mechanism DNA:SNP: :p.A160T (human)
RGD CTD
PMID:18310480 PMID:19797132 PMID:20075511 PMID:20448057 PMID:28166215
RGD:4143281 RGD:4143487 RGD:4143492 RGD:4143501
NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
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SLC22A4
solute carrier family 22 member 4
treatment
ISO
RGD
PMID:32707498
RGD:597538521
NCBI chr 2:134,594,843...134,641,403
Ensembl chr 2:134,595,584...134,639,777
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SLC22A5
solute carrier family 22 member 5
treatment
ISO
RGD
PMID:32707498
RGD:597538521
NCBI chr 2:134,660,741...134,847,575
Ensembl chr 2:134,660,808...134,686,219
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SLC6A4
solute carrier family 6 member 4
susceptibility
ISO
DNA:SNP: :rs2020936 (human)
RGD
PMID:20981038
RGD:4889426
NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378
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SLPI
secretory leukocyte peptidase inhibitor
treatment
ISO
RGD
PMID:18375249
RGD:9999419
NCBI chr17:47,595,804...47,598,364
Ensembl chr17:47,595,803...47,598,387
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SMAD4
SMAD family member 4
treatment
ISO
RGD
PMID:18375249
RGD:9999419
NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029
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SMPD3
sphingomyelin phosphodiesterase 3
ISO
protein:increased expression:lung:
RGD
PMID:20448054
RGD:10041059
NCBI chr 6:28,938,287...29,025,397
Ensembl chr 6:28,938,290...29,025,357
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SOD3
superoxide dismutase 3
susceptibility
ISO
DNA:polymorphism: :p.R213G (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16399992 PMID:16467073
RGD:1581270
NCBI chr 8:18,796,633...18,802,156
Ensembl chr 8:18,796,637...18,802,152
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STAT4
signal transducer and activator of transcription 4
ISO
protein:increased expression:lung
RGD
PMID:24321062
RGD:8661725
NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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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 chr 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
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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 chr 1:16,533,364...16,611,879
Ensembl chr 1:16,533,285...16,611,884
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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 chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
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TGFB1
transforming growth factor beta 1
no_association susceptibility
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :509C>T, 869T>C (human) 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 chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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TIMP1
TIMP metallopeptidase inhibitor 1
treatment
ISO
RGD
PMID:25842729
RGD:13207319
NCBI chr X:42,103,251...42,106,289
Ensembl chr X:42,102,172...42,106,296
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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 chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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TNF
tumor necrosis factor
disease_progression no_association
ISO
DNA:polymorphism:promoter CTD Direct Evidence: marker/mechanism DNA;polymorphism: :rs361525 (human) protein:increased expression:serum DNA:SNPs:promoter DNA:SNP:promoter:c.-308 G>A (human) DNA:polymorphism: :c. 489G>A (human) protein:increased expression:sputum
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 chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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TNFRSF1A
TNF receptor superfamily member 1A
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:19643942
RGD:5131203
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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TNFRSF1B
TNF receptor superfamily member 1B
severity
ISO
protein:increased expression:sputum (human)
RGD
PMID:21037022
RGD:5131154
NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
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TNFRSF8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29984229
NCBI chr 6:72,103,309...72,174,882
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TNFSF8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29984229
NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
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TNNT2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18068611
NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396
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TOLLIP
toll interacting protein
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr 2:852,198...864,337
Ensembl chr 2:851,512...864,483
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TP53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17274270
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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TRPV4
transient receptor potential cation channel subfamily V member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21245013
NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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VDR
vitamin D receptor
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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VEGFA
vascular endothelial growth factor A
treatment
ISO
protein:increased expression:lung
RGD
PMID:15681497 PMID:20705587
RGD:10755705 RGD:5684420
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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XRCC5
X-ray repair cross complementing 5
susceptibility
ISO
DNA:SNPs:multiple (human)
RGD
PMID:20463177
RGD:8698653
NCBI chr15:118,354,943...118,451,974
Ensembl chr15:118,354,796...118,451,960
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CCL11
chemokine (C-C motif) ligand 11
ISO
RGD
PMID:11991282
RGD:4145442
NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
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CFTR
CF transmembrane conductance regulator
susceptibility
ISO
DNA:deletion: :F508del(human) associated with pulmonary disease chronic obstructive; DNA:missense mutation:exon:p.R75Q(human)
RGD
PMID:10767489 PMID:15463907
RGD:4140475 RGD:4140484
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:19386687
RGD:4891509
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:15928955
RGD:4142512
NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
DNA:polymorphism (human)
RGD
PMID:14593914
RGD:4889126
NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
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EDN1
endothelin 1
ISO
Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse)
RGD
PMID:18631350
RGD:4145074
NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
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GC
GC vitamin D binding protein
susceptibility
ISO
RGD
PMID:12096683
RGD:5129516
NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:bronchial epithelium (rat)
RGD
PMID:19507274
RGD:2308951
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
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IL10
interleukin 10
ISO
protein:decreased expression:lung
RGD
PMID:19507274
RGD:2308951
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
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IL13
interleukin 13
ISO
protein:increased expression:Respiratory Mucosa
RGD
PMID:14582911
RGD:4759835
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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IL15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
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MPO
myeloperoxidase
ISO
protein:increased expression:lung
RGD
PMID:11798689
RGD:5130990
NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
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NOS2
nitric oxide synthase 2
ISO
RGD
PMID:19938219
RGD:4891494
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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NPY
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9731035
NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667
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VEGFA
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19263519
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:20935231
RGD:5686887
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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AGER
advanced glycosylation end-product specific receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30659203
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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ALB
albumin
ISO
RGD
PMID:24365562
RGD:11035274
NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696
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AMCF-II
alveolar macrophage-derived chemotactic factor-II
ISO
mRNA:increased expression:lung
RGD
PMID:17023518
RGD:5135245
NCBI chr 8:70,008,225...70,010,360
Ensembl chr 8:70,008,162...70,010,358
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BLOC1S6
biogenesis of lysosomal organelles complex 1 subunit 6
ISO
OMIM:130700
MouseDO
NCBI chr 1:126,168,944...126,184,813
Ensembl chr 1:126,165,994...126,184,858
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CCL11
chemokine (C-C motif) ligand 11
disease_progression
ISO
associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:lung
RGD
PMID:17983873
RGD:4145393
NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
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CCL2
chemokine (C-C motif) ligand 2
disease_progression
ISO
associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:sputum
RGD
PMID:20966041
RGD:4891458
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CCR5
C-C motif chemokine receptor 5
ISO
mRNA, protein:increased expression:lung (mouse) protein:increased expression:lung, lymphocyte (human)
RGD
PMID:15526056 PMID:16284650 PMID:17883726
RGD:4892090 RGD:4892098 RGD:4892104
NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
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CHI3L1
chitinase 3 like 1
ISO
RGD
PMID:20656949
RGD:4892658
NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
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CLPTM1L
CLPTM1 like
severity
ISO
associated with smoking; DNA:SNP:intron:rs31489(human)
RGD
PMID:21622582
RGD:150530642
NCBI chr16:79,237,000...79,248,503
Ensembl chr16:79,237,061...79,248,500
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CSF3
colony stimulating factor 3
treatment
ISO
RGD
PMID:19537526
RGD:11039438
NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:18772344
RGD:4891888
NCBI chr 6:19,312,351...19,324,439
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CXCL10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:lung, lymphocyte
RGD
PMID:15526056
RGD:4892104
NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
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CXCL9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:lung, lymphocyte
RGD
PMID:15526056
RGD:4892104
NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:15526056
RGD:4892104
NCBI chr X:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692
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DEFB1
defensin beta 1
ISO
mRNA:decreased expression:lung
RGD
PMID:18699806
RGD:4892249
G
EDNRA
endothelin receptor type A
ISO
RGD
PMID:19897563
RGD:4892307
NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853
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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 chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
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ELANE
elastase, neutrophil expressed
ISO
RGD
PMID:12186827
RGD:10450557
NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027
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ELN
elastin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25106431
NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897
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EPHX1
epoxide hydrolase 1
no_association susceptibility
ISO
associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human) DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) CTD Direct Evidence: marker/mechanism DNA:SNP:exon:p.Y113H (rs1051740) (human)
RGD CTD
PMID:9288046 PMID:10853854 PMID:12579334 PMID:20525719
RGD:1601065 RGD:4140935 RGD:4889405 RGD:4889406
NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,751,881...13,773,072
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FGA
fibrinogen alpha chain
ISO
protein:increased expression:plasma (rat)
RGD
PMID:20949089
RGD:11040553
NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202
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FSTL1
follistatin like 1
ISO
OMIM:130700
MouseDO
NCBI chr13:139,847,246...139,901,972
Ensembl chr13:139,847,438...139,901,965
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FUT8
fucosyltransferase 8
ISO
OMIM:130700
MouseDO
NCBI chr 7:89,395,637...89,680,502
Ensembl chr 7:89,519,730...89,680,489
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GCLC
glutamate-cysteine ligase catalytic subunit
ISO
RGD
PMID:19879314
RGD:5134681
NCBI chr 7:27,209,565...27,253,535
Ensembl chr 7:27,209,565...27,253,530
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GSTM3
glutathione S-transferase mu 3
ISO
RGD
PMID:19723343
RGD:5135041
NCBI chr 4:110,330,027...110,332,957
Ensembl chr 4:110,330,028...110,332,962
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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 chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
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HHIP
hedgehog interacting protein
ISO
DNA:haplotype insufficiency: :
RGD
PMID:25763110
RGD:11552596
NCBI chr 8:83,583,735...83,678,368
Ensembl chr 8:83,583,739...83,679,136
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HMOX1
heme oxygenase 1
susceptibility
ISO
DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10631150
RGD:1601606
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IL13
interleukin 13
ISO
RGD
PMID:11067861
RGD:4145652
NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
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IL17RA
interleukin 17 receptor A
ISO
RGD
PMID:21647421
RGD:5144212
NCBI chr 5:69,461,280...69,480,343
Ensembl chr 5:69,461,290...69,480,112
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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 chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL1RL1
interleukin 1 receptor like 1
treatment
ISO
associated with common cold;
RGD
PMID:30952808
RGD:40400740
NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
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ITGB6
integrin subunit beta 6
ISO
CTD Direct Evidence: marker/mechanism OMIM:130700
CTD RGD MouseDO
PMID:12634787
RGD:737734
NCBI chr15:67,041,516...67,175,409
Ensembl chr15:67,041,522...67,175,234
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
OMIM:130700
MouseDO
NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
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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 chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,294,382
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KL
klotho
ISO
OMIM:130700
MouseDO
NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228
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LOC100739508
glutathione S-transferase P-like
ISO
associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP (human)
RGD
PMID:20525719
RGD:4140935
NCBI chr 2:5,005,498...5,009,247
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LOX
lysyl oxidase
ISO
ClinVar Annotator: match by term: Pulmonary emphysema
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594
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MMP1
matrix metallopeptidase 1
ISO
DNA:insertion:promoter:g.-1607insG rs1799750 (human)
RGD
PMID:17363767
RGD:4890375
NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
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MMP12
matrix metallopeptidase 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12634787 PMID:25106431
NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679
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MMP2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism protein:increased activity:lung
CTD RGD
PMID:19897563 PMID:25106431
RGD:4892307
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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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 chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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MUS81
MUS81 structure-specific endonuclease subunit
ISO
OMIM:130700
MouseDO
NCBI chr 2:6,462,825...6,470,780
Ensembl chr 2:6,463,413...6,469,112
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NFE2L2
NFE2 like bZIP transcription factor 2
ISO
protein:decreased expression:lung:
RGD
PMID:18559366
RGD:5134973
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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NFKBIA
NFKB inhibitor alpha
treatment
ISO
RGD
PMID:20472710
RGD:4891488
NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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NOS2
nitric oxide synthase 2
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20472710 PMID:20956973 PMID:22000010
RGD:4891415 RGD:4891488 RGD:5509103
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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NOS3
nitric oxide synthase 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20956973
RGD:4891415
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
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NQO1
NAD(P)H quinone dehydrogenase 1
ISO
mRNA:decreased expression:lung
RGD
PMID:18559366
RGD:5134973
NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590
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PGF
placental growth factor
ISO
mRNA, protein:increased expression:lung, plasma
RGD
PMID:17023518
RGD:5135245
NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
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PPARGC1A
PPARG coactivator 1 alpha
ISO
RGD
PMID:23144332
RGD:7242020
NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:20472710
RGD:4891488
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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PTMA
prothymosin alpha
ISO
OMIM:130700
MouseDO
NCBI chr15:132,353,763...132,361,442
Ensembl chr15:132,355,655...132,361,435
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SCNN1B
sodium channel epithelial 1 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27982104
NCBI chr 3:22,832,259...22,902,592
Ensembl chr 3:22,832,262...22,902,063
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SERPINA1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:3485249 PMID:19941265 PMID:21030517
RGD:4892125 RGD:4892126
NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645
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SFTPC
surfactant protein C
susceptibility
ISO
DNA:polymorphism: :138A>C, 186A>G (human)
RGD
PMID:18038590
RGD:4144115
NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
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SMO
smoothened, frizzled class receptor
ISO
OMIM:130700
MouseDO
NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898
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SMPD3
sphingomyelin phosphodiesterase 3
ISO
protein:increased expression:lung:
RGD
PMID:20448054
RGD:10041059
NCBI chr 6:28,938,287...29,025,397
Ensembl chr 6:28,938,290...29,025,357
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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 chr 2:125,507,744...125,574,751
Ensembl chr 2:125,507,837...125,575,679
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TACR1
tachykinin receptor 1
ISO
RGD
PMID:19445658
RGD:5147818
NCBI chr 3:67,839,367...68,021,733
Ensembl chr 3:67,839,411...68,021,724
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TGFB1
transforming growth factor beta 1
severity
ISO
associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs:promoter:rs1800469, rs1982073 (human) CTD Direct Evidence: therapeutic
RGD CTD
PMID:12634787 PMID:18670143
RGD:4145272
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
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TLR2
toll like receptor 2
ISO
protein:increased expression:alveolar macrophage
RGD
PMID:18399852
RGD:4145342
NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
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TLR4
toll like receptor 4
ISO
OMIM:130700
RGD MouseDO
PMID:17053835
RGD:4144170
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25106431
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
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