Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:3083 term browser 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.



show annotations for term's descendants           Sort by:
 
chronic obstructive pulmonary disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing disease_progression ISO associated with Metabolic Syndrome X;protein:decreased expression:serum RGD PMID:22207678 PMID:21179920 RGD:5686379, RGD:5686825 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Adora2a adenosine A2a receptor ISO RGD PMID:16339780 RGD:4890385 NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
JBrowse link
G 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
JBrowse link
G 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 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
JBrowse link
G 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
JBrowse link
G Ang angiogenin ISO protein:increased expression:sputum RGD PMID:21916917 RGD:6892708 NCBI chr15:24,317,733...24,323,361 JBrowse link
G Bambi BMP and activin membrane-bound inhibitor ISO mRNA:increased expression:CD4+ T : RGD PMID:27549738 RGD:14390164 NCBI chr17:54,121,251...54,125,816
Ensembl chr17:54,121,255...54,126,060
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO mRNA:increased expression:peripheral blood, neutrophil (human) RGD PMID:22686245 RGD:11353864 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G 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
JBrowse link
G Bnip3 BCL2 interacting protein 3 treatment IEP RGD PMID:25888379 RGD:11561985 NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
JBrowse link
G C3 complement C3 ISO protein:increased expression:lung RGD PMID:17975205 RGD:5129504 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C5 complement C5 severity ISO protein:increased expression:sputum RGD PMID:20500690 RGD:5129705 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
JBrowse link
G C5ar1 complement C5a receptor 1 ISO protein:increased expression:lung, mast cell RGD PMID:19926870 RGD:5130165 NCBI chr 1:76,948,622...76,959,826 JBrowse link
G Casp12 caspase 12 treatment IEP RGD PMID:24694971 RGD:13782182 NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:28496315 RGD:13782303 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp8 caspase 8 treatment IEP RGD PMID:28496315 RGD:13782303 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Cat catalase ISO RGD PMID:20080081 RGD:4293707 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G 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
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 severity ISO RGD PMID:19925666 RGD:4145389 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion RGD PMID:18684970 RGD:4145489 NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
JBrowse link
G 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
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion RGD PMID:18684970 RGD:4145489 NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
JBrowse link
G 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
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO mRNA, protein:increased expression:lung, bronchial epithelium, submucosa (human) RGD PMID:19703829 RGD:4891477 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO mRNA,protein:increased expression:macrophage RGD PMID:21327296 RGD:6483765 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
JBrowse link
G Ccn2 cellular communication network factor 2 IEP mRNA, protein:increased expression:lung (rat) RGD PMID:19659652 RGD:2314483 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO protein:increased expression:blood (human) RGD PMID:19229703 RGD:4892070 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Cd28 Cd28 molecule ISO CD28 null allele is increased in COPD RGD PMID:19220836 PMID:18057064 RGD:5131618, RGD:5131620 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
JBrowse link
G Cd40 CD40 molecule severity ISO RGD PMID:20699612 RGD:5490968 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:19729666 RGD:4892292 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:20656949 RGD:4892658 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Cma1 chymase 1 ISO protein:increased expression:respiratory tract epithelium, mast cell (human) RGD PMID:18783610 RGD:5128552 NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO RGD PMID:15469929 RGD:5131854 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G 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
JBrowse link
G Crp C-reactive protein severity ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:29329563 PMID:21506665 PMID:21468168 RGD:5131278, RGD:5131279 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf2 colony stimulating factor 2 ISO protein:increased expression:sputum RGD PMID:19213775 RGD:5131476 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G 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
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23099361 PMID:20858153 RGD:4890939 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:sputum RGD PMID:17925429 RGD:5135436 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO protein:increased expression:sputum RGD PMID:17925429 RGD:5135436 NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23099361 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:sputum RGD PMID:19229703 PMID:17925429 RGD:4892070, RGD:5135436 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 severity ISO RGD PMID:12857718 RGD:5135248 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 disease_progression ISO protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19218194 PMID:19017998 RGD:5135435, RGD:4145632 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G 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
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 no_association
susceptibility
severity
ISO DNA:polymorphisms: :2455A>G, 3801T>C (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :p.I462V, 3801T>C (human)
DNA:polymorphism (human)
CTD
RGD
PMID:19022366 PMID:18389617 PMID:20080081 PMID:19507017 RGD:4892071, RGD:4293707, RGD:4892045 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 susceptibility ISO DNA:polymorphisms: :-3860G>A (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20797314 PMID:20080081 RGD:4293707 NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
JBrowse link
G 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
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 treatment IEP RGD PMID:24694971 RGD:13782182 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
JBrowse link
G 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
JBrowse link
G Dsp desmoplakin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
CTD
ClinVar
PMID:28166215 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
JBrowse link
G 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
JBrowse link
G Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific ISO CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr 4:120,719,616...120,915,801
Ensembl chr 4:120,707,133...120,915,779
JBrowse link
G Egfr epidermal growth factor receptor ISO
IEP
protein:increased expression:bronchial epithelium (human) RGD PMID:16393673 PMID:22732689 RGD:5131627, RGD:7204496 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Egr1 early growth response 1 ISO associated with Tobacco Use Disorder
associated with Tobacco Use Disorder;mRNA:increased expression:lung (human)
RGD PMID:20417178 PMID:15469929 RGD:5131878, RGD:5131854 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:25106431 PMID:16081882 RGD:1580326 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Ephx1 epoxide hydrolase 1 no_association
susceptibility
ISO DNA:SNP:exon:p.H139R (rs2234922) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:polymorphism
DNA:SNPs: :multiple (human)
CTD
RGD
PMID:9288046 PMID:20932192 PMID:18811882 PMID:9288046 PMID:18614560 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
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 IEP protein:increased expression:lung RGD PMID:17908459 RGD:2289953 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Faim2 Fas apoptotic inhibitory molecule 2 IEP RGD PMID:29208459 RGD:13792601 NCBI chr 7:130,632,368...130,659,353
Ensembl chr 7:130,633,348...130,659,168
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G Hdac2 histone deacetylase 2 treatment IEP
ISO
protein:decreased expression:lung:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15337792 PMID:18421014 PMID:22732689 PMID:24940433 RGD:7204496, RGD:9590287 NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Hp haptoglobin ISO RGD PMID:21471098 RGD:5144151 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO mRNA:increased expression:airway epithelial cell (human)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:airway epithelium (mouse)
CTD
RGD
PMID:29329563 PMID:20395558 PMID:18794286 RGD:4145446, RGD:4145522 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G Il17a interleukin 17A ISO
IEP
protein:increased expression:respiratory mucosa
protein:increased expression:lung, bronchioalveolar lavage fluid (rat)
RGD PMID:19604272 PMID:16200865 RGD:4889104, RGD:9068943 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum
protein:increased expression:sputum, macrophage
RGD PMID:20026745 PMID:19208460 RGD:4889551, RGD:4889575 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il18bp interleukin 18 binding protein ISO protein:increased expression:serum RGD PMID:20026745 RGD:4889551 NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Il5ra interleukin 5 receptor subunit alpha ISO protein:increased expression:serum RGD PMID:15286446 RGD:5128619 NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544
JBrowse link
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
JBrowse link
G Il9 interleukin 9 ISO protein:increased expression:sputum, macrophage, cytoplasm RGD PMID:15303135 RGD:5128691 NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
JBrowse link
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
JBrowse link
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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 JBrowse link
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
JBrowse link
G Mir218-2 microRNA 218-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28864214 NCBI chr10:20,068,451...20,068,560
Ensembl chr10:20,068,451...20,068,560
JBrowse link
G Mmp1 matrix metallopeptidase 1 IEP
ISO
mRNA:increased expression:bone (rat)
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, rate of decline of lung function in
ClinVar
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
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19661247 NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment
susceptibility
severity
ISO
IEP
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :-1562C-->T (human)
DNA:polymorphism:promoter:-1562C-->T (human)
CTD
RGD
PMID:19299917 PMID:19411568 PMID:25842729 PMID:20160424 PMID:18619044 RGD:5129553, RGD:13207319, RGD:5129494, RGD:5130149 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mpo myeloperoxidase severity IEP
ISO
protein:increased activity:plasma
protein:increased expression:serum
RGD PMID:19491038 PMID:10917466 RGD:5130997, RGD:5130993 NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
JBrowse link
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
JBrowse link
G 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
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming treatment ISO
IDA
mRNA, protein:increased expression:lung
protein:increased expression:bronchi
RGD PMID:17637221 PMID:22282955 PMID:19723147 RGD:4145655, RGD:7349406, RGD:5131190 NCBI chr 1:196,864,375...196,896,475
Ensembl chr 1:196,864,336...196,896,475
JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO protein:increased expression:sputum RGD PMID:18776153 RGD:5131169 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
JBrowse link
G 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
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO
IEP
protein:decreased expression:lung
protein:increased expression:lung
RGD PMID:18556627 PMID:22737924 RGD:5134980, RGD:10412732 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G 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
JBrowse link
G Nos1 nitric oxide synthase 1 severity ISO protein:increased expression:skeletal muscle
mRNA, protein:increased expression:lung
RGD PMID:12816735 PMID:19797159 RGD:5132628, RGD:5132607 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21843929 PMID:12797490 RGD:4891444 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21843929 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ntf3 neurotrophin 3 ISO mRNA:decreased expression:bronchus RGD PMID:15843147 RGD:4891120 NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
JBrowse link
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
JBrowse link
G Plau plasminogen activator, urokinase severity ISO
IMP
proteine:increased expression:sputum, neutrophil RGD PMID:20624254 PMID:17651644 RGD:6483803, RGD:6484146 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
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
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:16380766 RGD:8547571 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:20732852 RGD:6484530 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G 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
JBrowse link
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
JBrowse link
G Rnasel ribonuclease L ISO RGD PMID:23913960 RGD:40902622 NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
JBrowse link
G 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
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
JBrowse link
G Selp selectin P severity ISO protein:increased expression:plasma RGD PMID:20646456 RGD:6478682 NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:301355 PMID:1082356 PMID:1608473 PMID:1889260 PMID:2339709 More... RGD:4140387 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
G 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 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
JBrowse link
G Serpine1 serpin family E member 1 ISO
IEP
protein:increased expression:bronchus RGD PMID:11929177 PMID:17651644 RGD:4144041, RGD:6484146 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Sftpd surfactant protein D susceptibility
severity
ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :p.A160T (human)
DNA:SNPs: :multiple (human)
protein:increased expression:serum
CTD
RGD
PMID:28166215 PMID:18310480 PMID:19797132 PMID:20448057 PMID:20075511 RGD:4143501, RGD:4143281, RGD:4143487, RGD:4143492 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
JBrowse link
G 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
JBrowse link
G Slpi secretory leukocyte peptidase inhibitor treatment IEP RGD PMID:18375249 RGD:9999419 NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
JBrowse link
G Smad4 SMAD family member 4 treatment IEP RGD PMID:18375249 RGD:9999419 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 IEP protein:increased expression:lung: RGD PMID:20448054 RGD:10041059 NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
JBrowse link
G Sod3 superoxide dismutase 3 susceptibility ISO DNA:polymorphism: :p.R213G (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16399992 PMID:16467073 PMID:16399992 RGD:1581270, RGD:1581270 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990
JBrowse link
G Stat4 signal transducer and activator of transcription 4 IEP protein:increased expression:lung RGD PMID:24321062 RGD:8661725 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO associated with Haemophilus Infections;mRNA, protein:increased expression:lung (mouse) RGD PMID:29421524 RGD:39128228 NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
JBrowse link
G 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
JBrowse link
G Tgfb1 transforming growth factor, beta 1 no_association
susceptibility
IMP
ISO
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :509C>T, 869T>C (human)
DNA:SNP:exon:869T>C (human)
CTD
RGD
PMID:16365456 PMID:31349846 PMID:18269849 PMID:19186046 PMID:20193474 RGD:4145292, RGD:4145140, RGD:4145115 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment IEP RGD PMID:25842729 RGD:13207319 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G 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
JBrowse link
G Tnf tumor necrosis factor no_association
disease_progression
ISO DNA:SNPs:promoter
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter
DNA:polymorphism: :c. 489G>A (human)
protein:increased expression:sputum
protein:increased expression:serum
DNA:SNP:promoter:c.-308 G>A (human)
DNA;polymorphism: :rs361525 (human)
CTD
RGD
PMID:15337792 PMID:29497291 PMID:20352242 PMID:11179116 PMID:12537602 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
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A severity ISO protein:increased expression:plasma (human) RGD PMID:19643942 RGD:5131203 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B severity ISO protein:increased expression:sputum (human) RGD PMID:21037022 RGD:5131154 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29984229 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
JBrowse link
G 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
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:18068611 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 1:196,961,585...196,984,252
Ensembl chr 1:196,950,771...196,983,625
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17274270 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245013 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO
IEP
protein:increased expression:lung RGD PMID:15681497 PMID:20705587 RGD:5684420, RGD:10755705 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G 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
JBrowse link
Chronic Bronchitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl11 C-C motif chemokine ligand 11 ISO RGD PMID:11991282 RGD:4145442 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
JBrowse link
G Cftr CF transmembrane conductance regulator susceptibility ISO DNA:deletion: :F508del(human)
associated with pulmonary disease chronic obstructive; DNA:missense mutation:exon:p.R75Q(human)
RGD PMID:10767489 PMID:15463907 RGD:4140484, RGD:4140475 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:SNPs: :multiple (human) RGD PMID:19386687 RGD:4891509 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 susceptibility ISO DNA:polymorphism (human) RGD PMID:15928955 RGD:4142512 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:polymorphism (human) RGD PMID:14593914 RGD:4889126 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Edn1 endothelin 1 ISO Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse) RGD PMID:18631350 RGD:4145074 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Gc GC, vitamin D binding protein susceptibility ISO RGD PMID:12096683 RGD:5129516 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
JBrowse link
G Gstm1 glutathione S-transferase mu 1 severity ISO DNA:deletion: :
DNA:deletion, haplotype: : (human)
RGD PMID:9187680 PMID:15125256 RGD:4142513, RGD:12798508 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion: : RGD PMID:15928955 RGD:4142512 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP protein:increased expression:bronchial epithelium (rat) RGD PMID:19507274 RGD:2308951 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il10 interleukin 10 IEP protein:decreased expression:lung RGD PMID:19507274 RGD:2308951 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:Respiratory Mucosa RGD PMID:14582911 RGD:4759835 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Nos2 nitric oxide synthase 2 IDA RGD PMID:19938219 RGD:4891494 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:9731035 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19263519 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
pulmonary emphysema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:20935231 RGD:5686887 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30659203 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Alb albumin ISO RGD PMID:24365562 RGD:11035274 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISS OMIM:130700 MouseDO NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 disease_progression ISO associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:lung RGD PMID:17983873 RGD:4145393 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 disease_progression ISO associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:sputum RGD PMID:20966041 RGD:4891458 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO mRNA, protein:increased expression:lung (mouse)
protein:increased expression:lung, lymphocyte (human)
RGD PMID:16284650 PMID:15526056 PMID:17883726 RGD:4892098, RGD:4892104, RGD:4892090 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO RGD PMID:20656949 RGD:4892658 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:18772344 RGD:4891888 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15526056 RGD:4892104 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Defb1 defensin beta 1 ISO mRNA:decreased expression:lung RGD PMID:18699806 RGD:4892249 NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
JBrowse link
G Ednra endothelin receptor type A IMP RGD PMID:19897563 RGD:4892307 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Egr1 early growth response 1 resistance ISO mRNA, protein:increased expression:lung (human)
associated with Tobacco Use Disorder;protein:increased expression:lung, epithelial cell (mouse)
RGD PMID:11021835 PMID:16601242 PMID:18830406 RGD:5131973, RGD:5131892, RGD:5131853 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Elane elastase, neutrophil expressed IMP RGD PMID:12186827 RGD:10450557 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Ephx1 epoxide hydrolase 1 no_association
susceptibility
ISO associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human)
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:SNP:exon:p.Y113H (rs1051740) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9288046 PMID:20525719 PMID:10853854 PMID:9288046 PMID:12579334 RGD:4140935, RGD:4889406, RGD:1601065, RGD:4889405 NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
JBrowse link
G 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
JBrowse link
G Fstl1 follistatin-like 1 ISS OMIM:130700 MouseDO NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
JBrowse link
G 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
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit IDA RGD PMID:19879314 RGD:5134681 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
JBrowse link
G 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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Kl Klotho ISS OMIM:130700 MouseDO NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      respiratory system disease 3381
        lower respiratory tract disease 2223
          lung disease 2181
            obstructive lung disease 452
              chronic obstructive pulmonary disease 213
                Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome 0
                Chronic Bronchitis 17
                Mucus Inspissation of Respiratory Tract 0
                pulmonary emphysema + 68
paths to the root