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 characterized by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. (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; chronic obstructive pulmonary disease, susceptibility to
primary_id: MESH:C564641 ; MESH:D029424
alt_id: DOID:9005540; OMIM:606963
xref: 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 ISS
mRNA:decreased expression:respiratory epithelial cell OMIM:606963 DNA:SNPs: :rs212093, rs4148382 (human)
MouseDO RGD
PMID:12930913 PMID:20487524
RGD:5128827 , RGD:5128824
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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Ace
angiotensin I converting enzyme
susceptibility disease_progression
ISO ISS
OMIM:606963 DNA:polymorphism (human)
MouseDO RGD
PMID:20096799 PMID:20156752 PMID:19493329
RGD:4140487 , RGD:4140480 , RGD:4140912
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adam33
ADAM metallopeptidase domain 33
no_association susceptibility
ISO ISS
DNA:polymorphisms: :multiple (human) OMIM:606963 DNA:polymorphisms (human)
MouseDO RGD
PMID:19284602 PMID:20156753 PMID:20003279
RGD:4145361 , RGD:4145358 , RGD:4145357
NCBI chr 3:118,262,395...118,283,461
Ensembl chr 3:118,271,029...118,283,461
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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:22207678 PMID:21179920
RGD:5686379 , RGD:5686825
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adora2a
adenosine A2a receptor
ISO
RGD
PMID:16339780
RGD:4890385
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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Adrb1
adrenoceptor beta 1
ISO ISS
OMIM:606963
MouseDO RGD
PMID:11527135
RGD:5129114
NCBI chr 1:255,772,217...255,773,617
Ensembl chr 1:255,771,597...255,807,259
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Adrb2
adrenoceptor beta 2
no_association severity disease_progression
ISO ISS
DNA:polymorphism: :p.Q27E (human) DNA:SNPs: :rs1042717, rs1042718 (human) DNA:SNP: :p.R16G (human) DNA:SNPs: :p.R16G, p.Q27E (human) protein:decreased expression:blood, sputum, mononuclear cell OMIM:606963
MouseDO RGD
PMID:11527135 PMID:19293197 PMID:20525719 PMID:19747908 PMID:18667995 PMID:18789663 PMID:20211002 PMID:19080468 More...
RGD:5129114 , RGD:4145082 , RGD:4140935 , RGD:4145080 , RGD:4145095 , RGD:4145093 , RGD:4144899 , RGD:4145086
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Ager
advanced glycosylation end product-specific receptor
ISO
RGD
PMID:20133931
RGD:6767312
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Ang
angiogenin
ISO
protein:increased expression:sputum
RGD
PMID:21916917
RGD:6892708
NCBI chr15:24,317,733...24,323,361
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Bambi
BMP and activin membrane-bound inhibitor
ISO
mRNA:increased expression:CD4+ T :
RGD
PMID:27549738
RGD:14390164
NCBI chr17:54,121,251...54,125,816
Ensembl chr17:54,121,255...54,126,060
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Bcl2l1
Bcl2-like 1
ISO
mRNA:increased expression:peripheral blood, neutrophil (human)
RGD
PMID:22686245
RGD:11353864
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Bdkrb2
bradykinin receptor B2
ISO ISS
OMIM:606963
MouseDO RGD
PMID:16600946
RGD:4890451
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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Bnip3
BCL2 interacting protein 3
treatment
IEP
RGD
PMID:25888379
RGD:11561985
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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C3
complement C3
ISO
protein:increased expression:lung
RGD
PMID:17975205
RGD:5129504
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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C5
complement C5
severity
ISO
protein:increased expression:sputum
RGD
PMID:20500690
RGD:5129705
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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C5ar1
complement C5a receptor 1
ISO
protein:increased expression:lung, mast cell
RGD
PMID:19926870
RGD:5130165
NCBI chr 1:76,948,622...76,959,826
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Casp12
caspase 12
treatment
IEP
RGD
PMID:24694971
RGD:13782182
NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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Casp3
caspase 3
treatment
IEP
RGD
PMID:28496315
RGD:13782303
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp8
caspase 8
treatment
IEP
RGD
PMID:28496315
RGD:13782303
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cat
catalase
ISO
RGD
PMID:20080081
RGD:4293707
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl1
C-C motif chemokine ligand 1
severity
ISO ISS
DNA:SNP:enhancer:rs2282691 (human) OMIM:606963
MouseDO RGD
PMID:16864713
RGD:4891410
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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Ccl11
C-C motif chemokine ligand 11
severity
ISO
RGD
PMID:19925666
RGD:4145389
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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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 chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:plasma
RGD
PMID:20497022
RGD:4891429
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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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 chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:17868461 PMID:11475557
RGD:5130900 , RGD:5130901
NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
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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 chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
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Ccl7
C-C motif chemokine ligand 7
ISO
mRNA,protein:increased expression:macrophage
RGD
PMID:21327296
RGD:6483765
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Ccn2
cellular communication network factor 2
IEP
mRNA, protein:increased expression:lung (rat)
RGD
PMID:19659652
RGD:2314483
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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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 chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Ccr5
C-C motif chemokine receptor 5
ISO
protein:increased expression:blood (human)
RGD
PMID:19229703
RGD:4892070
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd28
Cd28 molecule
ISO
CD28 null allele is increased in COPD
RGD
PMID:19220836 PMID:18057064
RGD:5131618 , RGD:5131620
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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Cd40
CD40 molecule
severity
ISO
RGD
PMID:20699612
RGD:5490968
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd80
Cd80 molecule
ISO
RGD
PMID:19729666
RGD:4892292
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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Cd86
CD86 molecule
severity susceptibility
ISO ISS
protein:increased expression:lung, myeloid dendritic cell (human) OMIM:606963 DNA:polymorphism:cds:g.1057G>A rs1129055 (human)
MouseDO RGD
PMID:19729666 PMID:20732370
RGD:4892292 , RGD:4891504
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cd8a
CD8a molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17950725
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Cftr
CF transmembrane conductance regulator
disease_progression
ISO ISS
DNA:polymorphism:cds:p.M470V(human) OMIM:606963
MouseDO RGD
PMID:18652532
RGD:4140431
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:20656949
RGD:4892658
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Chrm3
cholinergic receptor, muscarinic 3
ISO ISS
OMIM:606963
MouseDO RGD
PMID:19281093
RGD:5133441
NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
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Chrna3
cholinergic receptor nicotinic alpha 3 subunit
susceptibility disease_progression
ISO ISS
associated with smoking; DNA:SNP::rs1051730(human) OMIM:606963 DNA:SNP: :rs12910984(human) DNA:SNP: :rs6495309(human) associated with smoking; DNA:SNP: :rs1051730(human)
MouseDO RGD
PMID:29993116 PMID:23207642 PMID:23056235 PMID:22441734 PMID:26751916
RGD:150526806 , RGD:151347538 , RGD:151347536 , RGD:151347455 , RGD:150527850
NCBI chr 8:55,401,981...55,415,012
Ensembl chr 8:55,401,702...55,415,165
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Chrna5
cholinergic receptor nicotinic alpha 5 subunit
susceptibility
ISO ISS
associated with lung cancer; DNA:SNP::rs16969968 (human) OMIM:606963 associated with smoking; DNA:SNP::rs16969968 (human)
MouseDO RGD
PMID:33419953 PMID:29993116
RGD:150524357 , RGD:150526806
NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
disease_progression
ISO ISS
DNA:CNV:: CNV-3956(human) OMIM:606963
MouseDO RGD
PMID:25407004
RGD:11074492
NCBI chr 1:116,715,286...116,837,223
Ensembl chr 1:116,714,711...116,837,240
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Clca1
chloride channel accessory 1
severity
ISO ISS
mRNA:increased expression:bronchus OMIM:606963 DNA:SNPs: :multiple (human)
MouseDO RGD
PMID:17637221 PMID:14985398
RGD:4145655 , RGD:1331524
NCBI chr 2:233,938,677...233,964,369
Ensembl chr 2:233,938,677...233,964,369
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Cma1
chymase 1
ISO
protein:increased expression:respiratory tract epithelium, mast cell (human)
RGD
PMID:18783610
RGD:5128552
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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Col1a1
collagen type I alpha 1 chain
ISO
RGD
PMID:15469929
RGD:5131854
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Crhr1
corticotropin releasing hormone receptor 1
treatment
ISO ISS
DNA:SNP:intron: (rs242941) (human) OMIM:606963
MouseDO RGD
PMID:19210659
RGD:11097322
NCBI chr10:89,040,203...89,083,481
Ensembl chr10:89,040,203...89,083,481
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Crp
C-reactive protein
severity
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29329563 PMID:21506665 PMID:21468168
RGD:5131278 , RGD:5131279
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Csf2
colony stimulating factor 2
ISO
protein:increased expression:sputum
RGD
PMID:19213775
RGD:5131476
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO ISS
OMIM:606963 DNA:SNP: :-318C>T (rs5742909) (human)
MouseDO RGD
PMID:21129004 PMID:20732370
RGD:4891499 , RGD:4891504
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23099361 PMID:20858153
RGD:4890939
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:sputum
RGD
PMID:17925429
RGD:5135436
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl11
C-X-C motif chemokine ligand 11
ISO
protein:increased expression:sputum
RGD
PMID:17925429
RGD:5135436
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
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Cxcl2
C-X-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23099361
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Cxcl3
C-X-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23099361
NCBI chr14:17,270,146...17,289,458
Ensembl chr14:17,270,146...17,289,511
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Cxcl6
C-X-C motif chemokine ligand 6
severity
ISO
RGD
PMID:12857718
RGD:5135248
NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:sputum
RGD
PMID:19229703 PMID:17925429
RGD:4892070 , RGD:5135436
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Cxcr2
C-X-C motif chemokine receptor 2
severity
ISO
RGD
PMID:12857718
RGD:5135248
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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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:19218194 PMID:19017998
RGD:5135435 , RGD:4145632
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Cyba
cytochrome b-245 alpha chain
susceptibility
ISO ISS
DNA:polymorphism: :p.H72Y (human) OMIM:606963 DNA:polymorphisms: :-930A>G, 242C>T (human)
MouseDO RGD
PMID:19567155 PMID:20080081
RGD:4304108 , RGD:4293707
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
no_association susceptibility severity
ISO
DNA:polymorphisms: :2455A>G, 3801T>C (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :p.I462V, 3801T>C (human) DNA:polymorphism (human)
CTD RGD
PMID:19022366 PMID:18389617 PMID:20080081 PMID:19507017
RGD:4892071 , RGD:4293707 , RGD:4892045
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
susceptibility
ISO
DNA:polymorphisms: :-3860G>A (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20797314 PMID:20080081
RGD:4293707
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO ISS
DNA:polymorphisms: :-1293G>C, 7632T>A, 9893C>G (human) OMIM:606963
MouseDO RGD
PMID:17442289
RGD:4892219
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Ddit3
DNA-damage inducible transcript 3
treatment
IEP
RGD
PMID:24694971
RGD:13782182
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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Defb1
defensin beta 1
susceptibility no_association
ISO ISS
DNA:polymorphism: :668C>G (human) OMIM:606963 DNA:SNPs: :multiple (human) DNA:polymorphism (human)
MouseDO RGD
PMID:15569478 PMID:16700921 PMID:11829455
RGD:4892257 , RGD:4892251 , RGD:1331523
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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Dsp
desmoplakin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
CTD ClinVar
PMID:28166215
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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Edn1
endothelin 1
ISO ISS
DNA:insertion, transversion:5' utr, exon:c.138_139insA, p.K198N (human) OMIM:606963 protein:increased expression:sputum (human)
MouseDO RGD
PMID:20707291 PMID:10445603
RGD:4144868 , RGD:4145062
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Eefsec
eukaryotic elongation factor, selenocysteine-tRNA-specific
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28166215
NCBI chr 4:120,719,616...120,915,801
Ensembl chr 4:120,707,133...120,915,779
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Egfr
epidermal growth factor receptor
ISO IEP
protein:increased expression:bronchial epithelium (human)
RGD
PMID:16393673 PMID:22732689
RGD:5131627 , RGD:7204496
NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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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:20417178 PMID:15469929
RGD:5131878 , RGD:5131854
NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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Eln
elastin
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25106431 PMID:16081882
RGD:1580326
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Ephx1
epoxide hydrolase 1
no_association susceptibility
ISO
DNA:SNP:exon:p.H139R (rs2234922) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) DNA:polymorphism DNA:SNPs: :multiple (human)
CTD RGD
PMID:9288046 PMID:20932192 PMID:18811882 PMID:9288046 PMID:18614560 PMID:17564249 More...
RGD:4889120 , RGD:4889121 , RGD:1601065 , RGD:4889122 , RGD:4889123
NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
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Erbb3
erb-b2 receptor tyrosine kinase 3
IEP
protein:increased expression:lung
RGD
PMID:17908459
RGD:2289953
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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F2
coagulation factor II
severity
ISO
RGD
PMID:21660493
RGD:5147752
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F2rl1
F2R like trypsin receptor 1
ISO ISS
OMIM:606963
MouseDO RGD
PMID:21245013
RGD:4892586
NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226
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Faim2
Fas apoptotic inhibitory molecule 2
IEP
RGD
PMID:29208459
RGD:13792601
NCBI chr 7:130,632,368...130,659,353
Ensembl chr 7:130,633,348...130,659,168
G
Fam13a
family with sequence similarity 13, member A
susceptibility
ISO
DNA:SNP: :rs7671167 (human) ClinVar Annotator: match by term: Chronic obstructive pulmonary disease CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:20173748 PMID:28166215 PMID:25928290
RGD:11552597
NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
G
Fas
Fas cell surface death receptor
IEP
RGD
PMID:29208459
RGD:13792601
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Faslg
Fas ligand
IEP
RGD
PMID:29208459
RGD:13792601
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
G
Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:increased expression:lung
RGD
PMID:15681497
RGD:5684420
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
G
Foxo3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23099361
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
G
Gc
GC, vitamin D binding protein
ISO ISS
OMIM:606963
MouseDO RGD
PMID:15118671 PMID:9517617
RGD:1331525 , RGD:5509932
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
G
Gstm1
glutathione S-transferase mu 1
susceptibility resistance
ISO ISS
DNA:deletion: : OMIM:606963 mRNA:decreased expression:lung associated with Carcinoma, Non-Small-Cell Lung;
MouseDO RGD
PMID:19664521 PMID:16919984 PMID:15038404
RGD:4140939 , RGD:4142517 , RGD:4142538
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstp1
glutathione S-transferase pi 1
susceptibility no_association
ISO ISS
mRNA:decreased expression:lung OMIM:606963 DNA:polymorphism:exon:p.I105V (human) DNA:SNPs: :p.I105V, p.A114V (human)
MouseDO RGD
PMID:16919984 PMID:20467983 PMID:17532303 PMID:17439673
RGD:4142517 , RGD:4140938 , RGD:4142511 , RGD:4142514
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO ISS
associated with GSTM1 null mutation; DNA:deletion: : OMIM:606963
MouseDO RGD
PMID:19664521 PMID:20402821
RGD:4140939 , RGD:4140928
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Gzma
granzyme A
ISO
RGD
PMID:20047264
RGD:5135520
NCBI chr 2:44,740,638...44,752,471
Ensembl chr 2:44,740,569...44,752,493
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Gzmb
granzyme B
ISO
RGD
PMID:20540777
RGD:5135516
NCBI chr15:30,343,361...30,346,792
Ensembl chr15:30,173,603...30,346,814
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Hdac2
histone deacetylase 2
treatment
IEP ISO
protein:decreased expression:lung: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15337792 PMID:18421014 PMID:22732689 PMID:24940433
RGD:7204496 , RGD:9590287
NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
G
Hdac8
histone deacetylase 8
severity
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:15888697
RGD:13208820
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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Hhip
Hedgehog-interacting protein
susceptibility
ISO ISS
DNA:SNPs: :rs11100865, rs7654947(human) OMIM:606963 ClinVar Annotator: match by term: Chronic obstructive pulmonary disease, biomass related DNA:SNP: :rs13118928(human)
MouseDO ClinVar RGD
PMID:25928290 PMID:19996190
RGD:11552597 , RGD:11552598
NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
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Hmox1
heme oxygenase 1
susceptibility treatment severity
ISO IEP
DNA:polymorphism:promoter
OMIM RGD
PMID:17203192 PMID:20705587 PMID:17254481
RGD:4145372 , RGD:10755705 , RGD:4145371
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hp
haptoglobin
ISO
RGD
PMID:21471098
RGD:5144151
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hspa1a
heat shock protein family A (Hsp70) member 1A
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
G
Hspa1b
heat shock protein family A (Hsp70) member 1B
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
G
Hspa1l
heat shock protein family A (Hsp70) member 1 like
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
G
Hspa4
heat shock protein family A (Hsp70) member 4
no_association
ISO
protein:increased expression:serum (human) protein:increased expression:bronchial mucosa (human)
RGD
PMID:19350847 PMID:22140545
RGD:5688779 , RGD:5688781
NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
G
Htr2a
5-hydroxytryptamine receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22048642
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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Icam1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:airway epithelial cell (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:airway epithelium (mouse)
CTD RGD
PMID:29329563 PMID:20395558 PMID:18794286
RGD:4145446 , RGD:4145522
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il12b
interleukin 12B
ISO ISS
DNA:polymorphism: : OMIM:606963
MouseDO RGD
PMID:19279357
RGD:4145423
NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
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Il13
interleukin 13
susceptibility no_association
ISO ISS
DNA:polymorphism: :c. 1103C>T (human) OMIM:606963 DNA:polymorphisms:intron1,exon4s: rs2066960, rs20541, rs1295685 (human) DNA:SNP:promoter:c.-1055 C>T (human) DNA:polymorphism:promoter:c.-1055C>T (human)
MouseDO RGD
PMID:15308043 PMID:19796199 PMID:15820084 PMID:19995275
RGD:4145668 , RGD:4145601 , RGD:4145714 , RGD:4145596
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il13ra1
interleukin 13 receptor subunit alpha 1
ISO ISS
DNA:SNP: :rs2250747 (human) OMIM:606963
MouseDO RGD
PMID:19796199
RGD:4145601
NCBI chr X:115,348,860...115,408,682
Ensembl chr X:115,348,860...115,408,681
G
Il16
interleukin 16
ISO
protein:increased expression:lung
RGD
PMID:20079227
RGD:5024924
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
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Il17a
interleukin 17A
ISO IEP
protein:increased expression:respiratory mucosa protein:increased expression:lung, bronchioalveolar lavage fluid (rat)
RGD
PMID:19604272 PMID:16200865
RGD:4889104 , RGD:9068943
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
ISO
protein:increased expression:serum protein:increased expression:sputum, macrophage
RGD
PMID:20026745 PMID:19208460
RGD:4889551 , RGD:4889575
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il18bp
interleukin 18 binding protein
ISO
protein:increased expression:serum
RGD
PMID:20026745
RGD:4889551
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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Il1b
interleukin 1 beta
no_association susceptibility severity
ISO ISS
DNA:polymorphism: :-31T>C (human) OMIM:606963 DNA:polymorphisms: :-31T>C, 3954T>C (human) DNA:polymorphisms: :-31T>C, 3953T>C (human) DNA:polymorphisms: :-31T>C, -511C>T (human)
MouseDO RGD
PMID:18364273 PMID:15766560 PMID:17380888 PMID:18579366
RGD:4142868 , RGD:4143169 , RGD:4142873 , RGD:4142866
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rl1
interleukin 1 receptor-like 1
ISO
mRNA:increased expression:lung:
RGD
PMID:19927353 PMID:30952808
RGD:5144227 , RGD:40400740
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Il1rn
interleukin 1 receptor antagonist
no_association susceptibility
ISO ISS
DNA:polymorphism (human) OMIM:606963 protein:decreased expression:plasma DNA:polymorphism:intron (human)
MouseDO RGD
PMID:18364273 PMID:19291375 PMID:18579366
RGD:4142868 , RGD:4142861 , RGD:4142866
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il27
interleukin 27
ISO ISS
DNA:polymorphisms: :-964A>G, 2905T>G (human) OMIM:606963
MouseDO RGD
PMID:18554158
RGD:5128484
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
Il33
interleukin 33
ISO
mRNA,protein:increased expression:lung:
RGD
PMID:30952808
RGD:40400740
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Il5
interleukin 5
ISO
protein:increased expression:serum
RGD
PMID:20858153
RGD:4890939
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Il5ra
interleukin 5 receptor subunit alpha
ISO
protein:increased expression:serum
RGD
PMID:15286446
RGD:5128619
NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544
G
Il6
interleukin 6
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28864214 PMID:29329563 PMID:31349846 PMID:20819268
RGD:4143243
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il9
interleukin 9
ISO
protein:increased expression:sputum, macrophage, cytoplasm
RGD
PMID:15303135
RGD:5128691
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
G
Kdr
kinase insert domain receptor
ISO
protein:increased expression:lung
RGD
PMID:15681497
RGD:5684420
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Klf5
Kruppel-like factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30639269
NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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Lep
leptin
severity
ISO ISS
DNA:polymorphism:promoter: -2548 G>A (human) OMIM:606963 protein:decreased expression:serum protein:increased expression:plasma
MouseDO RGD
PMID:20854423 PMID:20021311 PMID:21367591
RGD:5128777 , RGD:5128778 , RGD:5128772
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
disease_progression
ISO ISS
protein:decreased expression:lung OMIM:606963 DNA:SNPs: :
MouseDO RGD
PMID:19196818 PMID:19196818
RGD:5128813 , RGD:5128813
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lrp1b
LDL receptor related protein 1B
susceptibility
ISO ISS
associated with lung adenocarcinoma;DNA:mutations:multiple: (human) OMIM:606963
MouseDO RGD
PMID:28522810
RGD:150429784
NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
G
Map2k4
mitogen activated protein kinase kinase 4
severity
ISO
RGD
PMID:20699612
RGD:5490968
NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
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Mapk8
mitogen-activated protein kinase 8
severity
ISO
RGD
PMID:20699612
RGD:5490968
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
G
Mbl2
mannose binding lectin 2
ISO ISS
DNA:polymorphisms:5' utr, exon:multiple (human) OMIM:606963 protein:decreased secretion:lung (human)
MouseDO RGD
PMID:20688922 PMID:19411612
RGD:4889421 , RGD:4889448
NCBI chr 1:228,016,439...228,024,736
G
Mcam
melanoma cell adhesion molecule
ISO
RGD
PMID:23649916
RGD:7364780
NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
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Mir218-2
microRNA 218-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28864214
NCBI chr10:20,068,451...20,068,560
Ensembl chr10:20,068,451...20,068,560
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Mmp1
matrix metallopeptidase 1
IEP ISO
mRNA:increased expression:bone (rat) ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, rate of decline of lung function in
ClinVar OMIM RGD
PMID:9850057 PMID:11741975 PMID:11875051 PMID:18030675 PMID:23173262
RGD:7207216
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp14
matrix metallopeptidase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19661247
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp9
matrix metallopeptidase 9
treatment susceptibility severity
ISO IEP
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:polymorphism: :-1562C-->T (human) DNA:polymorphism:promoter:-1562C-->T (human)
CTD RGD
PMID:19299917 PMID:19411568 PMID:25842729 PMID:20160424 PMID:18619044
RGD:5129553 , RGD:13207319 , RGD:5129494 , RGD:5130149
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mpo
myeloperoxidase
severity
IEP ISO
protein:increased activity:plasma protein:increased expression:serum
RGD
PMID:19491038 PMID:10917466
RGD:5130997 , RGD:5130993
NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
G
Mtcl1
microtubule crosslinking factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28166215
NCBI chr 9:106,305,282...106,441,782
Ensembl chr 9:106,321,098...106,442,203
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:sputum (human)
RGD
PMID:21474912
RGD:5131160
NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
treatment
ISO IDA
mRNA, protein:increased expression:lung protein:increased expression:bronchi
RGD
PMID:17637221 PMID:22282955 PMID:19723147
RGD:4145655 , RGD:7349406 , RGD:5131190
NCBI chr 1:196,864,375...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
protein:increased expression:sputum
RGD
PMID:18776153
RGD:5131169
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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Nat2
N-acetyltransferase 2
susceptibility
ISO ISS
DNA:polymorphisms: : OMIM:606963
MouseDO RGD
PMID:17442289 PMID:12884528
RGD:4892219 , RGD:5131863
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO IEP
protein:decreased expression:lung protein:increased expression:lung
RGD
PMID:18556627 PMID:22737924
RGD:5134980 , RGD:10412732
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
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Nod2
nucleotide-binding oligomerization domain containing 2
severity
ISO ISS
DNA:SNP:intron: (rs1077861) (human) OMIM:606963
MouseDO RGD
PMID:21943069
RGD:5508720
NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
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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:5132628 , RGD:5132607
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos2
nitric oxide synthase 2
ISO
protein:increased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21843929 PMID:12797490
RGD:4891444
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21843929
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nqo1
NAD(P)H quinone dehydrogenase 1
treatment susceptibility
ISO ISS IEP
protein, mRNA:decreased expression:lung OMIM:606963 DNA:polymorphisms: :465C>T, 609C>T (human)
MouseDO RGD
PMID:18556627 PMID:28790194 PMID:19705749
RGD:5134980 , RGD:13439712 , RGD:5133267
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO ISS
protein:decreased expression:lung, lymphocyte OMIM:606963
MouseDO RGD
PMID:20450542 PMID:9926163
RGD:4892318 , RGD:4892564
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Ntf3
neurotrophin 3
ISO
mRNA:decreased expression:bronchus
RGD
PMID:15843147
RGD:4891120
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
protein:increased expression:bronchiolar epithelial cell
RGD
PMID:21429417
RGD:5684530
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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Plau
plasminogen activator, urokinase
severity
ISO IMP
proteine:increased expression:sputum, neutrophil
RGD
PMID:20624254 PMID:17651644
RGD:6483803 , RGD:6484146
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Plaur
plasminogen activator, urokinase receptor
IEP
protein:increased expression:bronchus
RGD
PMID:17651644
RGD:6484146
NCBI chr 1:80,053,441...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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Pon1
paraoxonase 1
ISO
protein:decreased activity:serum (human)
RGD
PMID:16380766
RGD:8547571
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppargc1a
PPARG coactivator 1 alpha
ISO
RGD
PMID:20732852
RGD:6484530
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO ISS
DNA:polymorphism: :g.-765G>C (human) OMIM:606963 protein:increased expression:sputum
MouseDO RGD
PMID:21655952 PMID:15949313
RGD:5135277 , RGD:5143926
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
G
Rapgef3
Rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363678
NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
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Rnasel
ribonuclease L
ISO
RGD
PMID:23913960
RGD:40902622
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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Rtel1
regulator of telomere elongation helicase 1
ameliorates
ISO ISS
DNA:SNP:cds:rs4809324 (human) OMIM:606963
MouseDO RGD
PMID:28360516
RGD:152985694
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Scgb1a1
secretoglobin family 1A member 1
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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Selp
selectin P
severity
ISO
protein:increased expression:plasma
RGD
PMID:20646456
RGD:6478682
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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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 CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:301355 PMID:1082356 PMID:1608473 PMID:1889260 PMID:2339709 PMID:2567291 PMID:2575668 PMID:2696185 PMID:2700304 PMID:2904702 PMID:2989709 PMID:3262617 PMID:3264419 PMID:3484754 PMID:3500183 PMID:3537008 PMID:3875547 PMID:6093867 PMID:6306478 PMID:6602622 PMID:7045697 PMID:7227484 PMID:8970361 PMID:9041988 PMID:9195389 PMID:9569237 PMID:9635295 PMID:10194472 PMID:12034572 PMID:14522813 PMID:14767073 PMID:14985567 PMID:15115878 PMID:15454649 PMID:15711957 PMID:15978931 PMID:15994391 PMID:16278826 PMID:16608528 PMID:17964515 PMID:18024524 PMID:18294358 PMID:18340647 PMID:18414213 PMID:18515255 PMID:18565211 PMID:18566672 PMID:18682522 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:25391508 PMID:25454901 PMID:25579632 PMID:25637381 PMID:25738741 PMID:25741868 PMID:25966443 PMID:26141072 PMID:26243289 PMID:26304913 PMID:26310624 PMID:26647313 PMID:26672964 PMID:26771213 PMID:26831755 PMID:26987331 PMID:27153395 PMID:27246852 PMID:27465791 PMID:27535533 PMID:27959697 PMID:28146470 PMID:28492532 PMID:29083408 PMID:29153744 PMID:29232161 PMID:29431110 PMID:29618937 PMID:29644095 PMID:29882371 PMID:30068317 PMID:30068662 PMID:30254761 PMID:30585791 PMID:30739910 PMID:31028937 PMID:31216405 PMID:31447099 PMID:31564432 PMID:31980526 PMID:32087139 PMID:33144682 PMID:33726816 PMID:20298391 More...
RGD:4140387
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpina3n
serine (or cysteine) peptidase inhibitor, clade A, member 3N
susceptibility
ISO ISS
protein:increased expression:plasma OMIM:606963 ClinVar Annotator: match by term: ANTICHYMOTRYPSIN BONN 1 DNA:missense mutations:Cds:p.L55P, P229A DNA:polymorphism:exon:p.A-15T (human)
MouseDO ClinVar RGD
PMID:1351206 PMID:8102759 PMID:8244391 PMID:17261175 PMID:8244391 PMID:10849024 More...
RGD:5147433 , RGD:5147449 , RGD:5147441
NCBI chr 6:123,323,632...123,331,166
Ensembl chr 6:123,323,629...123,332,433
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Serpine1
serpin family E member 1
ISO IEP
protein:increased expression:bronchus
RGD
PMID:11929177 PMID:17651644
RGD:4144041 , RGD:6484146
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sftpa1
surfactant protein A1
susceptibility
ISO ISS
protein:increased expression:lung OMIM:606963 DNA:SNP:cds:p.L50V (human) DNA:polymorphism:cds:c.186G>A (human)
MouseDO RGD
PMID:19367700 PMID:19797132 PMID:11589345
RGD:4143288 , RGD:4143281 , RGD:4143423
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpb
surfactant protein B
susceptibility severity
ISO ISS
DNA:polymorphism: :1580C>T (human) OMIM:606963 DNA:SNP: :p.T131I (rs1130866) (human) DNA:SNPs: :multiple (human)
MouseDO RGD
PMID:15315329 PMID:15817713 PMID:11589345 PMID:18550614
RGD:4143402 , RGD:4143396 , RGD:4143423 , RGD:4143290
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Sftpc
surfactant protein C
disease_progression
ISO ISS
DNA:polymorphism: :186A>G (human) OMIM:606963
MouseDO RGD
PMID:18038590
RGD:4144115
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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Sftpd
surfactant protein D
susceptibility severity
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :p.A160T (human) DNA:SNPs: :multiple (human) protein:increased expression:serum
CTD RGD
PMID:28166215 PMID:18310480 PMID:19797132 PMID:20448057 PMID:20075511
RGD:4143501 , RGD:4143281 , RGD:4143487 , RGD:4143492
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Slc6a4
solute carrier family 6 member 4
susceptibility
ISO ISS
DNA:SNP: :rs2020936 (human) OMIM:606963
MouseDO RGD
PMID:20981038
RGD:4889426
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Slpi
secretory leukocyte peptidase inhibitor
treatment
IEP
RGD
PMID:18375249
RGD:9999419
NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
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Smad4
SMAD family member 4
treatment
IEP
RGD
PMID:18375249
RGD:9999419
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smpd3
sphingomyelin phosphodiesterase 3
IEP
protein:increased expression:lung:
RGD
PMID:20448054
RGD:10041059
NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
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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 PMID:16399992
RGD:1581270 , RGD:1581270
NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
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Stat4
signal transducer and activator of transcription 4
IEP
protein:increased expression:lung
RGD
PMID:24321062
RGD:8661725
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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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 chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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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
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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Tgfb1
transforming growth factor, beta 1
no_association susceptibility
IMP ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :509C>T, 869T>C (human) DNA:SNP:exon:869T>C (human)
CTD RGD
PMID:16365456 PMID:31349846 PMID:18269849 PMID:19186046 PMID:20193474
RGD:4145292 , RGD:4145140 , RGD:4145115
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Timp1
TIMP metallopeptidase inhibitor 1
treatment
IEP
RGD
PMID:25842729
RGD:13207319
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Tlr4
toll-like receptor 4
susceptibility
ISO ISS
decreased expression:protein:monocyte OMIM:606963 DNA:polymorphism:blood cells
MouseDO RGD
PMID:19080469 PMID:20169003
RGD:4144145 , RGD:4144119
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
no_association disease_progression
ISO
DNA:SNPs:promoter CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter DNA:polymorphism: :c. 489G>A (human) protein:increased expression:sputum protein:increased expression:serum DNA:SNP:promoter:c.-308 G>A (human) DNA;polymorphism: :rs361525 (human)
CTD RGD
PMID:15337792 PMID:29497291 PMID:20352242 PMID:11179116 PMID:12537602 PMID:8564092 PMID:20500811 PMID:15820084 PMID:20299531 More...
RGD:4143273 , RGD:4143424 , RGD:4143421 , RGD:4143270 , RGD:4143272 , RGD:4145714 , RGD:4143391
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:19643942
RGD:5131203
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tnfrsf1b
TNF receptor superfamily member 1B
severity
ISO
protein:increased expression:sputum (human)
RGD
PMID:21037022
RGD:5131154
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29984229
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29984229
NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
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Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18068611
NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
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Tollip
toll interacting protein
ISO
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar
NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17274270
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21245013
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Vegfa
vascular endothelial growth factor A
treatment
ISO IEP
protein:increased expression:lung
RGD
PMID:15681497 PMID:20705587
RGD:5684420 , RGD:10755705
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xrcc5
X-ray repair cross complementing 5
susceptibility
ISO ISS
DNA:SNPs:multiple (human) OMIM:606963
MouseDO RGD
PMID:20463177
RGD:8698653
NCBI chr 9:73,955,220...74,044,020
Ensembl chr 9:73,955,216...74,044,018
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Ccl11
C-C motif chemokine ligand 11
ISO
RGD
PMID:11991282
RGD:4145442
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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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:4140484 , RGD:4140475
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
DNA:SNPs: :multiple (human)
RGD
PMID:19386687
RGD:4891509
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:15928955
RGD:4142512
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
DNA:polymorphism (human)
RGD
PMID:14593914
RGD:4889126
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Edn1
endothelin 1
ISO
Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse)
RGD
PMID:18631350
RGD:4145074
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Gc
GC, vitamin D binding protein
susceptibility
ISO
RGD
PMID:12096683
RGD:5129516
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Gstm1
glutathione S-transferase mu 1
severity
ISO
DNA:deletion: : DNA:deletion, haplotype: : (human)
RGD
PMID:9187680 PMID:15125256
RGD:4142513 , RGD:12798508
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion: :
RGD
PMID:15928955
RGD:4142512
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Icam1
intercellular adhesion molecule 1
IEP
protein:increased expression:bronchial epithelium (rat)
RGD
PMID:19507274
RGD:2308951
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il10
interleukin 10
IEP
protein:decreased expression:lung
RGD
PMID:19507274
RGD:2308951
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13
interleukin 13
ISO
protein:increased expression:Respiratory Mucosa
RGD
PMID:14582911
RGD:4759835
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chr19:25,640,013...25,706,818
Ensembl chr19:25,640,251...25,706,820
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Mpo
myeloperoxidase
IEP
protein:increased expression:lung
RGD
PMID:11798689
RGD:5130990
NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Nos2
nitric oxide synthase 2
IDA
RGD
PMID:19938219
RGD:4891494
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Npy
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9731035
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19263519
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:20935231
RGD:5686887
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Ager
advanced glycosylation end product-specific receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30659203
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Alb
albumin
ISO
RGD
PMID:24365562
RGD:11035274
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Bloc1s6
biogenesis of lysosomal organelles complex 1 subunit 6
ISS
OMIM:130700
MouseDO
NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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Ccl11
C-C motif chemokine ligand 11
disease_progression
ISO
associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:lung
RGD
PMID:17983873
RGD:4145393
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl2
C-C motif chemokine ligand 2
disease_progression
ISO
associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:sputum
RGD
PMID:20966041
RGD:4891458
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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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:16284650 PMID:15526056 PMID:17883726
RGD:4892098 , RGD:4892104 , RGD:4892090
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Chi3l1
chitinase 3 like 1
ISO
RGD
PMID:20656949
RGD:4892658
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Clptm1l
CLPTM1-like
severity
ISO ISS
associated with smoking; DNA:SNP:intron:rs31489(human) OMIM:130700
MouseDO RGD
PMID:21622582
RGD:150530642
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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Csf3
colony stimulating factor 3
treatment
ISO ISS
OMIM:130700
MouseDO RGD
PMID:19537526
RGD:11039438
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:18772344
RGD:4891888
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Cxcl1
C-X-C motif chemokine ligand 1
ISO
mRNA:increased expression:lung
RGD
PMID:17023518
RGD:5135245
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:lung, lymphocyte
RGD
PMID:15526056
RGD:4892104
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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Cxcl3
C-X-C motif chemokine ligand 3
ISO
mRNA:increased expression:lung
RGD
PMID:17023518
RGD:5135245
NCBI chr14:17,270,146...17,289,458
Ensembl chr14:17,270,146...17,289,511
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Cxcl6
C-X-C motif chemokine ligand 6
ISO
mRNA:increased expression:lung
RGD
PMID:17023518
RGD:5135245
NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093
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Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:lung, lymphocyte
RGD
PMID:15526056
RGD:4892104
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:15526056
RGD:4892104
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Defb1
defensin beta 1
ISO
mRNA:decreased expression:lung
RGD
PMID:18699806
RGD:4892249
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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Ednra
endothelin receptor type A
IMP
RGD
PMID:19897563
RGD:4892307
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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Egr1
early growth response 1
resistance
ISO
mRNA, protein:increased expression:lung (human) associated with Tobacco Use Disorder;protein:increased expression:lung, epithelial cell (mouse)
RGD
PMID:11021835 PMID:16601242 PMID:18830406
RGD:5131973 , RGD:5131892 , RGD:5131853
NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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Elane
elastase, neutrophil expressed
IMP
RGD
PMID:12186827
RGD:10450557
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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Eln
elastin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25106431
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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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) DNA:SNP:exon:p.Y113H (rs1051740) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9288046 PMID:20525719 PMID:10853854 PMID:9288046 PMID:12579334
RGD:4140935 , RGD:4889406 , RGD:1601065 , RGD:4889405
NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
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Fga
fibrinogen alpha chain
IEP
protein:increased expression:plasma (rat)
RGD
PMID:20949089
RGD:11040553
NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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Fstl1
follistatin-like 1
ISS
OMIM:130700
MouseDO
NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
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Fut8
fucosyltransferase 8
ISS
OMIM:130700
MouseDO
NCBI chr 6:95,948,230...96,176,677
Ensembl chr 6:95,949,991...96,176,677
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Gclc
glutamate-cysteine ligase, catalytic subunit
IDA
RGD
PMID:19879314
RGD:5134681
NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO ISS
DNA:deletion: : OMIM:130700
MouseDO RGD
PMID:20495862
RGD:4140927
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstm3
glutathione S-transferase mu 3
ISO
RGD
PMID:19723343
RGD:5135041
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
G
Gstm5
glutathione S-transferase, mu 5
ISO
RGD
PMID:19723343
RGD:5135041
NCBI chr 2:195,531,627...195,534,562
Ensembl chr 2:195,531,495...195,534,553
G
Gstp1
glutathione S-transferase pi 1
ISO ISS
associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP (human) OMIM:130700
MouseDO RGD
PMID:20525719
RGD:4140935
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Hdac2
histone deacetylase 2
treatment
IEP ISO
mRNA,proetin:increased expression,increased activity,hyperphosphorylation,hypercarbonylation:lung:
RGD
PMID:23326540 PMID:24040961
RGD:9590245 , RGD:9590320
NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
G
Hhip
Hedgehog-interacting protein
ISO
DNA:haplotype insufficiency: :
RGD
PMID:25763110
RGD:11552596
NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
G
Hmox1
heme oxygenase 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10631150 PMID:10631150
RGD:1601606
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Il13
interleukin 13
ISO
RGD
PMID:11067861
RGD:4145652
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il17ra
interleukin 17 receptor A
ISO
RGD
PMID:21647421
RGD:5144212
NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
G
Il18
interleukin 18
ISO IEP
mRNA, protein:increased expression:respiratory system fluid/secretion, macrophage
RGD
PMID:17400729 PMID:23392573
RGD:4889590 , RGD:8655969
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
associated with common cold;
RGD
PMID:30952808
RGD:40400740
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Itgb6
integrin subunit beta 6
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12634787 PMID:12634787
RGD:737734
NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISS
OMIM:130700
MouseDO
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
G
Keap1
Kelch-like ECH-associated protein 1
onset
ISO
protein:increased expression:lung (human)
RGD
PMID:18559366 PMID:19520915
RGD:5134973 , RGD:6893395
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
G
Kl
Klotho
ISS
OMIM:130700
MouseDO
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
G
Lox
lysyl oxidase
ISO
ClinVar Annotator: match by term: Pulmonary emphysema
ClinVar
PMID:25741868
NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
G
Mmp1
matrix metallopeptidase 1
ISO ISS
DNA:insertion:promoter:g.-1607insG rs1799750 (human) OMIM:130700
MouseDO RGD
PMID:17363767
RGD:4890375
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
G
Mmp12
matrix metallopeptidase 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12634787 PMID:25106431
NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
G
Mmp2
matrix metallopeptidase 2
IEP ISO
protein:increased activity:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25106431 PMID:19897563
RGD:4892307
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp9
matrix metallopeptidase 9
treatment
IEP ISO
protein:increased activity:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25106431 PMID:19897563 PMID:18408070 PMID:14605041
RGD:4892307 , RGD:5130151 , RGD:8547887
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Mus81
MUS81 structure-specific endonuclease subunit
ISS
OMIM:130700
MouseDO
NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
G
Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
protein:decreased expression:lung:
RGD
PMID:18559366
RGD:5134973
NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
G
Nfkbia
NFKB inhibitor alpha
treatment
IDA
RGD
PMID:20472710
RGD:4891488
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Nos2
nitric oxide synthase 2
IEP ISO
protein:increased expression:lung mRNA,protein:increased expression:lung
RGD
PMID:20472710 PMID:20956973 PMID:22000010
RGD:4891488 , RGD:4891415 , RGD:5509103
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Nos3
nitric oxide synthase 3
ISO
mRNA,protein:increased expression:lung
RGD
PMID:20956973
RGD:4891415
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
mRNA:decreased expression:lung
RGD
PMID:18559366
RGD:5134973
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
G
Pgf
placental growth factor
ISO
mRNA, protein:increased expression:lung, plasma
RGD
PMID:17023518
RGD:5135245
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
G
Ppargc1a
PPARG coactivator 1 alpha
ISO
RGD
PMID:23144332
RGD:7242020
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
RGD
PMID:20472710
RGD:4891488
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
G
Ptma
prothymosin alpha
ISS
OMIM:130700
MouseDO
NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333
G
Scnn1b
sodium channel epithelial 1 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27982104
NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
G
Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:3485249 PMID:21030517 PMID:19941265
RGD:4892126 , RGD:4892125
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
G
Sftpc
surfactant protein C
susceptibility
ISO ISS
DNA:polymorphism: :138A>C, 186A>G (human) OMIM:130700
MouseDO RGD
PMID:18038590
RGD:4144115
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
G
Smo
smoothened, frizzled class receptor
ISS
OMIM:130700
MouseDO
NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
G
Smpd3
sphingomyelin phosphodiesterase 3
ISO
protein:increased expression:lung:
RGD
PMID:20448054
RGD:10041059
NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
G
Srfbp1
serum response factor binding protein 1
ISO
ClinVar Annotator: match by term: Pulmonary emphysema
ClinVar
PMID:25741868
NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515
G
Tacr1
tachykinin receptor 1
ISO
RGD
PMID:19445658
RGD:5147818
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
G
Tgfb1
transforming growth factor, beta 1
severity
ISO
associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs:promoter:rs1800469, rs1982073 (human) CTD Direct Evidence: therapeutic
CTD RGD
PMID:12634787 PMID:18670143
RGD:4145272
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tlr2
toll-like receptor 2
ISO
protein:increased expression:alveolar macrophage
RGD
PMID:18399852
RGD:4145342
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
ISO ISS
OMIM:130700
MouseDO RGD
PMID:17053835
RGD:4144170
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25106431
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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