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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
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Accession:DOID:3083 term browser browse the term
Definition:An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both. (DO)
Synonyms:exact_synonym: COAD;   COLD;   COPD;   Chronic Airflow Obstruction;   Chronic Airflow Obstructions;   Chronic Obstructive Airway Disease;   Chronic Obstructive Lung Disease
 narrow_synonym: CHRONIC OBSTRUCTIVE PULMONARY DISEASE, BIOMASS RELATED;   COPD, severe early-onset;   Chronic Obstructive Pulmonary Disease, Severe Early-Onset;   PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN
 related_synonym: ANTICHYMOTRYPSIN BONN 1;   HMOX1-RELATED CONDITION;   chronic obstructive pulmonary disease, susceptibility to
 primary_id: MESH:C564641;   MESH:D029424
 alt_id: DOID:9005540;   MIM:606963
 xref: EFO:0000341;   ICD10CM:J44.9;   NCI:C3199
For additional species annotation, visit the Alliance of Genome Resources.


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 mRNA:decreased expression:respiratory epithelial cell
DNA:SNPs: :rs212093, rs4148382 (human)		 RGD PMID:12930913 PMID:20487524 RGD:5128827, RGD:5128824 NCBI chr10:1,022,041...1,162,431
Ensembl chr10:531,812...655,114 		JBrowse link
G Ace angiotensin I converting enzyme susceptibility
disease_progression		 ISO DNA:polymorphism (human) RGD PMID:20096799 PMID:20156752 PMID:19493329 RGD:4140487, RGD:4140480, RGD:4140912 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Adam33 ADAM metallopeptidase domain 33 no_association
susceptibility		 ISO DNA:polymorphisms: :multiple (human)
DNA:polymorphisms (human)		 RGD PMID:19284602 PMID:20156753 PMID:20003279 RGD:4145361, RGD:4145358, RGD:4145357 NCBI chr 3:138,715,428...138,736,392
Ensembl chr 3:118,271,029...118,283,461 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO protein:increased expression:pulmonary artery RGD PMID:36522710 RGD:401850545 NCBI chr16:73,725,186...73,804,284
Ensembl chr16:67,022,655...67,100,917 		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 chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Adora2a adenosine A2a receptor ISO RGD PMID:16339780 RGD:4890385 NCBI chr20:13,315,270...13,332,802
Ensembl chr20:13,315,853...13,333,386 		JBrowse link
G Adrb1 adrenoceptor beta 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar
RGD		 PMID:10212248 PMID:12374873 PMID:16844790 PMID:17496726 PMID:11527135 RGD:5129114 NCBI chr 1:265,777,103...265,780,114
Ensembl chr 1:255,771,597...255,807,259 		JBrowse link
G Adrb2 adrenoceptor beta 2 no_association
severity
disease_progression		 ISO 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		 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 chr18:57,912,760...57,914,802
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO ClinVar Annotator: match by term: COPD, severe early onset ClinVar
RGD		 PMID:20133931 RGD:6767312 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Ang angiogenin ISO protein:increased expression:sputum RGD PMID:21916917 RGD:6892708 NCBI chr15:26,786,233...26,796,883 JBrowse link
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 1:147,645,354...147,801,986
Ensembl chr 1:138,189,940...138,393,153 		JBrowse link
G Bambi BMP and activin membrane-bound inhibitor ISO mRNA:increased expression:CD4+ T : RGD PMID:27549738 RGD:14390164 NCBI chr17:58,816,438...58,821,003
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 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479
Ensembl chr 1:141,253,523...141,303,479 		JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO RGD PMID:16600946 RGD:4890451 NCBI chr 6:130,237,055...130,267,205
Ensembl chr 6:124,472,566...124,502,497 		JBrowse link
G Bmal2 basic helix-loop-helix ARNT like 2 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 4:179,699,432...179,747,710
Ensembl chr 4:179,699,502...179,746,949 		JBrowse link
G Bnip3 BCL2 interacting protein 3 treatment IEP RGD PMID:25888379 RGD:11561985 NCBI chr 1:203,137,778...203,154,962
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 9:2,174,412...2,201,339
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 3:38,668,174...38,759,468
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 1:86,077,309...86,088,001 JBrowse link
G Casp12 caspase 12 treatment IEP RGD PMID:24694971 RGD:13782182 NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037 		JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:28496315 RGD:13782303 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp8 caspase 8 treatment IEP RGD PMID:28496315 RGD:13782303 NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Cat catalase ISO RGD PMID:20080081 RGD:4293707 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 severity ISO DNA:SNP:enhancer:rs2282691 (human) RGD PMID:16864713 RGD:4891410 NCBI chr10:67,625,962...67,628,740
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 chr10:67,525,975...67,530,576
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 chr19:10,208,120...10,218,340
Ensembl chr19:10,202,128...10,203,819 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:34652871 PMID:20497022 RGD:4891429 NCBI chr10:67,503,077...67,504,875
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 chr19:10,263,589...10,270,359
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 chr10:68,963,893...68,965,728
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 chr10:68,820,330...68,824,906
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 chr10:67,514,095...67,515,945
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 1:22,621,498...22,624,614
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 8:132,463,533...132,511,601
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 8:132,629,097...132,660,980
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 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Cd40 CD40 molecule severity ISO RGD PMID:20699612 RGD:5490968 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd80 Cd80 molecule ISO RGD PMID:19729666 RGD:4892292 NCBI chr11:75,760,073...75,798,978
Ensembl chr11:62,254,624...62,292,030 		JBrowse link
G Cd86 CD86 molecule severity
susceptibility		 ISO protein:increased expression:lung, myeloid dendritic cell (human)
DNA:polymorphism:cds:g.1057G>A rs1129055 (human)		 RGD PMID:19729666 PMID:20732370 RGD:4892292, RGD:4891504 NCBI chr11:77,647,565...77,706,178
Ensembl chr11:64,163,828...64,200,818 		JBrowse link
G Cd8a CD8 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17950725 NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:103,365,804...103,370,040 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35303175 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35303175 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cftr CF transmembrane conductance regulator disease_progression ISO DNA:polymorphism:cds:p.M470V(human) RGD PMID:18652532 RGD:4140431 NCBI chr 4:47,422,084...47,694,646
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 chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO RGD PMID:19281093 RGD:5133441 NCBI chr17:64,696,549...65,158,622
Ensembl chr17:60,005,202...60,467,278 		JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit susceptibility
disease_progression		 ISO associated with smoking; DNA:SNP::rs1051730(human)
DNA:SNP: :rs12910984(human)
DNA:SNP: :rs6495309(human)
associated with smoking; DNA:SNP: :rs1051730(human)		 RGD PMID:29993116 PMID:23207642 PMID:23056235 PMID:22441734 PMID:26751916 RGD:150526806, RGD:151347538, RGD:151347536, RGD:151347455, RGD:150527850 NCBI chr 8:64,297,755...64,311,251
Ensembl chr 8:55,401,702...55,415,165 		JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit susceptibility ISO associated with lung cancer; DNA:SNP::rs16969968 (human)
associated with smoking; DNA:SNP::rs16969968 (human)		 RGD PMID:33419953 PMID:29993116 RGD:150524357, RGD:150526806 NCBI chr 8:64,265,879...64,294,233
Ensembl chr 8:55,369,794...55,398,146 		JBrowse link
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit disease_progression ISO DNA:CNV:: CNV-3956(human) RGD PMID:25407004 RGD:11074492 NCBI chr 1:126,123,425...126,249,181
Ensembl chr 1:116,714,711...116,837,240 		JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 8:64,312,644...64,333,319
Ensembl chr 8:55,418,313...55,437,027 		JBrowse link
G Clca1 chloride channel accessory 1 severity ISO mRNA:increased expression:bronchus
DNA:SNPs: :multiple (human)		 RGD PMID:17637221 PMID:14985398 RGD:4145655, RGD:1331524 NCBI chr 2:236,599,022...236,624,714
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 chr15:33,387,351...33,390,133
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 chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 treatment ISO DNA:SNP:intron: (rs242941) (human) RGD PMID:19210659 RGD:11097322 NCBI chr10:89,540,192...89,583,466
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 chr13:87,694,062...87,695,978
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 chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP: :-318C>T (rs5742909) (human) RGD PMID:21129004 PMID:20732370 RGD:4891499, RGD:4891504 NCBI chr 9:69,812,859...69,819,959
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 chr14:17,477,542...17,479,321
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 chr14:15,989,066...15,991,263
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 chr14:15,973,728...15,976,503
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 chr14:17,465,210...17,467,255
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 chr14:17,571,900...17,573,624
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 chr14:17,594,959...17,596,417
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 chr14:16,007,166...16,012,077
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 9:83,178,645...83,185,017
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:70,884,293...70,886,944
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cyba cytochrome b-245 alpha chain susceptibility ISO DNA:polymorphism: :p.H72Y (human)
DNA:polymorphisms: :-930A>G, 242C>T (human)		 RGD PMID:19567155 PMID:20080081 RGD:4304108, RGD:4293707 NCBI chr19:67,396,143...67,404,214
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 8:67,318,665...67,330,196
Ensembl chr 8:58,404,669...58,434,338 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:54,553,165...54,580,758 		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 8:66,991,940...66,998,014
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 8:66,971,261...66,978,149
Ensembl chr 8:58,075,367...58,082,312 		JBrowse link
G Cyp2c79 cytochrome P450, family 2, subfamily c, polypeptide 79 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:polymorphisms: :-1293G>C, 7632T>A, 9893C>G (human) RGD PMID:17442289 RGD:4892219 NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Cyp2j4 cytochrome P450, family 2, subfamily j, polypeptide 4 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 5:116,295,691...116,323,219
Ensembl chr 5:111,178,703...111,244,794 		JBrowse link
G Cyp2r1 cytochrome P450, family 2, subfamily r, polypeptide 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:178,166,984...178,232,191
Ensembl chr 1:168,751,038...168,797,759 		JBrowse link
G Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 6:133,011,948...133,039,167
Ensembl chr 6:127,243,315...127,274,760 		JBrowse link
G Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 5:134,360,096...134,374,233
Ensembl chr 5:129,123,336...129,137,464 		JBrowse link
G Cyp4b1 cytochrome P450, family 4, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 5:134,375,807...134,413,635
Ensembl chr 5:129,139,038...129,156,348 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 treatment IEP RGD PMID:24694971 RGD:13782182 NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Defb1 defensin beta 1 susceptibility
no_association		 ISO DNA:polymorphism: :668C>G (human)
DNA:SNPs: :multiple (human)
DNA:polymorphism (human)		 RGD PMID:15569478 PMID:16700921 PMID:11829455 RGD:4892257, RGD:4892251, RGD:1331523 NCBI chr16:77,001,326...77,016,068
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 chr17:26,829,153...26,877,419
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Edn1 endothelin 1 ISO DNA:insertion, transversion:5' utr, exon:c.138_139insA, p.K198N (human)
protein:increased expression:sputum (human)		 RGD PMID:20707291 PMID:10445603 RGD:4144868, RGD:4145062 NCBI chr17:22,660,799...22,666,687
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...120,915,779
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 chr14:95,378,626...95,551,358
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 chr18:26,737,078...26,740,877
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 chr12:27,604,983...27,648,413
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 chr13:95,246,079...95,275,852
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 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525 		JBrowse link
G F2 coagulation factor II, thrombin severity ISO RGD PMID:21660493 RGD:5147752 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO RGD PMID:21245013 RGD:4892586 NCBI chr 2:28,507,003...28,519,954
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 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand IEP RGD PMID:29208459 RGD:13792601 NCBI chr13:76,680,885...76,706,042
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 chr12:12,333,050...12,504,750
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 chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561 		JBrowse link
G Gc GC, vitamin D binding protein ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar
RGD		 PMID:28492532 PMID:15118671 PMID:9517617 RGD:1331525, RGD:5509932 NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 susceptibility ISO DNA:SNP: :rs8099939 RGD PMID:28900078 RGD:401900295 NCBI chr 1:89,733,736...89,795,769
Ensembl chr 1:80,605,892...80,667,125 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B susceptibility ISO DNA:SNP: :rs2268132 RGD PMID:28900078 RGD:401900295 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
resistance		 ISO DNA:deletion: :
mRNA:decreased expression:lung
associated with Carcinoma, Non-Small-Cell Lung;		 RGD PMID:19664521 PMID:16919984 PMID:15038404 RGD:4140939, RGD:4142517, RGD:4142538 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility
no_association		 ISO mRNA:decreased expression:lung
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
DNA:polymorphism:exon:p.I105V (human)
DNA:SNPs: :p.I105V, p.A114V (human)		 ClinVar
RGD		 PMID:25741868 PMID:16919984 PMID:20467983 PMID:17532303 PMID:17439673 RGD:4142517, RGD:4140938, RGD:4142511, RGD:4142514 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with GSTM1 null mutation; DNA:deletion: : RGD PMID:19664521 PMID:20402821 RGD:4140939, RGD:4140928 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Gzma granzyme A ISO RGD PMID:20047264 RGD:5135520 NCBI chr 2:46,473,763...46,485,696
Ensembl chr 2:44,740,569...44,752,493 		JBrowse link
G Gzmb granzyme B ISO RGD PMID:20540777 RGD:5135516 NCBI chr15:34,459,007...34,462,469
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 chr20:42,101,815...42,126,486
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:71,425,240...71,632,865
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Hhip Hedgehog-interacting protein susceptibility ISO DNA:SNPs: :rs11100865, rs7654947(human)
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease, biomass related
DNA:SNP: :rs13118928(human)		 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 Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752192 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hmox1 heme oxygenase 1 susceptibility
treatment
severity		 ISO
IEP		 DNA:polymorphism:promoter
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease | ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9884342 PMID:21088618 PMID:25741868 PMID:28492532 PMID:17203192 More... RGD:4145372, RGD:10755705, RGD:4145371 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hp haptoglobin ISO RGD PMID:21471098 RGD:5144151 NCBI chr19:54,449,151...54,453,701
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 NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr20:3,859,756...3,863,800
Ensembl chr20:3,856,006...3,873,240
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 chr20:3,853,496...3,860,223
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 chr10:37,908,866...37,951,994
Ensembl chr10:37,408,025...37,449,001 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs6313		 CTD
RGD		 PMID:22048642 PMID:28900078 RGD:401900295 NCBI chr15:56,360,647...56,428,703
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Hykk hydroxylysine kinase ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 8:64,212,043...64,235,809
Ensembl chr 8:55,315,969...55,337,339 		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 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il12b interleukin 12B ISO DNA:polymorphism: : RGD PMID:19279357 RGD:4145423 NCBI chr10:29,390,300...29,405,194
Ensembl chr10:28,893,008...28,902,903 		JBrowse link
G Il13 interleukin 13 susceptibility
no_association		 ISO DNA:polymorphism: :c. 1103C>T (human)
DNA:polymorphisms:intron1,exon4s: rs2066960, rs20541, rs1295685 (human)
DNA:SNP:promoter:c.-1055 C>T (human)
DNA:polymorphism:promoter:c.-1055C>T (human)		 RGD PMID:15308043 PMID:19796199 PMID:15820084 PMID:19995275 RGD:4145668, RGD:4145601, RGD:4145714, RGD:4145596 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO DNA:SNP: :rs2250747 (human) RGD PMID:19796199 RGD:4145601 NCBI chr  X:120,213,670...120,294,777
Ensembl chr  X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681 		JBrowse link
G Il16 interleukin 16 ISO protein:increased expression:lung RGD PMID:20079227 RGD:5024924 NCBI chr 1:147,026,852...147,127,177
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 9:30,640,844...30,644,331
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 8:59,802,072...59,829,275
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 1:165,784,916...165,787,990
Ensembl chr 1:156,372,883...156,374,963 		JBrowse link
G Il1b interleukin 1 beta no_association
susceptibility
severity		 ISO DNA:polymorphism: :-31T>C (human)
DNA:polymorphisms: :-31T>C, 3954T>C (human)
DNA:polymorphisms: :-31T>C, 3953T>C (human)
DNA:polymorphisms: :-31T>C, -511C>T (human)		 RGD PMID:18364273 PMID:15766560 PMID:17380888 PMID:18579366 RGD:4142868, RGD:4143169, RGD:4142873, RGD:4142866 NCBI chr 3:137,030,200...137,036,581
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 9:50,157,326...50,222,888
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Il1rn interleukin 1 receptor antagonist no_association
susceptibility		 ISO DNA:polymorphism (human)
protein:decreased expression:plasma
DNA:polymorphism:intron (human)		 RGD PMID:18364273 PMID:19291375 PMID:18579366 RGD:4142868, RGD:4142861, RGD:4142866 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il27 interleukin 27 ISO DNA:polymorphisms: :-964A>G, 2905T>G (human) RGD PMID:18554158 RGD:5128484 NCBI chr 1:190,603,684...190,609,292
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 1:237,115,478...237,149,897
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 chr10:38,375,132...38,378,003
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 4:141,186,749...141,221,348
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 4:5,889,999...5,894,575
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 chr17:8,117,028...8,120,151
Ensembl chr17:8,111,772...8,114,895 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:lung RGD PMID:15681497 RGD:5684420 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Klf5 KLF transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30639269 NCBI chr15:82,472,081...82,487,267
Ensembl chr15:76,064,258...76,079,445 		JBrowse link
G Lcn1 lipocalin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28381600 NCBI chr 3:29,930,943...29,935,418
Ensembl chr 3:9,532,915...9,536,577 		JBrowse link
G Lep leptin severity ISO DNA:polymorphism:promoter: -2548 G>A (human)
protein:decreased expression:serum
protein:increased expression:plasma		 RGD PMID:20854423 PMID:20021311 PMID:21367591 RGD:5128777, RGD:5128778, RGD:5128772 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepr leptin receptor disease_progression ISO protein:decreased expression:lung
DNA:SNPs: :		 RGD PMID:19196818 PMID:19196818 RGD:5128813, RGD:5128813 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Lrp1b LDL receptor related protein 1B susceptibility ISO associated with lung adenocarcinoma;DNA:mutations:multiple: (human) 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 chr10:50,842,348...50,947,063
Ensembl chr10:50,344,915...50,447,993 		JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:46,357,931...46,415,597 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 severity ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:20699612 PMID:34331613 RGD:5490968, RGD:155663371 NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,638,924...8,721,981 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:lung (human)		 RGD PMID:20688922 PMID:19411612 RGD:4889421, RGD:4889448 NCBI chr 1:237,429,873...237,465,567 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 Mgst1 microsomal glutathione S-transferase 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 4:172,760,930...172,776,157
Ensembl chr 4:171,029,630...171,044,892 		JBrowse link
G Mgst3 microsomal glutathione S-transferase 3 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr13:82,059,480...82,080,418
Ensembl chr13:79,526,541...79,547,411 		JBrowse link
G Mif macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752192 NCBI chr20:12,767,138...12,791,222
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504 		JBrowse link
G Mir126a microRNA 126a ISO RNA:decreased expression:lung RGD PMID:36522710 RGD:401850545 NCBI chr 3:29,813,150...29,813,267
Ensembl chr 3:9,415,063...9,415,180 		JBrowse link
G Mir210 microRNA 210 disease_progression ISO associated with lung cancer;miRNA:decreased expression: peripheral blood (human)
associated with cerebral infarction;miRNA:decreased expression: peripheral blood (human)		 RGD PMID:28745794 PMID:27906445 RGD:155598593, RGD:155598676 NCBI chr 1:205,755,923...205,756,032
Ensembl chr 1:196,326,337...196,326,454 		JBrowse link
G Mir218-2 microRNA 218-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28864214 NCBI chr10:20,572,523...20,572,632
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 Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset		 ClinVar
RGD		 PMID:9850057 PMID:11741975 PMID:11875051 PMID:18030675 PMID:25741868 More... RGD:7207216 NCBI chr 8:12,943,453...12,963,966
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 chr15:31,857,824...31,867,049
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 3:174,103,474...174,111,434
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 chr10:73,092,124...73,102,057
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 2:176,933,312...176,938,497
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 1:206,293,717...206,326,006
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 DNA:polymorphisms: : RGD PMID:17442289 PMID:12884528 RGD:4892219, RGD:5131863 NCBI chr16:26,974,874...27,005,191
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 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 severity ISO DNA:SNP:intron: (rs1077861) (human) RGD PMID:21943069 RGD:5508720 NCBI chr19:34,555,832...34,596,281
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 chr12:44,276,011...44,456,371
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 chr10:64,313,335...64,349,221
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 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 treatment
susceptibility		 ISO
IEP		 protein, mRNA:decreased expression:lung
DNA:polymorphisms: :465C>T, 609C>T (human)		 RGD PMID:18556627 PMID:28790194 PMID:19705749 RGD:5134980, RGD:13439712, RGD:5133267 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO protein:decreased expression:lung, lymphocyte RGD PMID:20450542 PMID:9926163 RGD:4892318, RGD:4892564 NCBI chr18:31,522,783...31,644,508
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 4:160,601,161...160,670,623
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 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Pde3b phosphodiesterase 3B ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:178,041,207...178,204,503
Ensembl chr 1:168,607,022...168,769,334 		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 chr15:3,505,485...3,511,987
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 1:89,181,363...89,196,308
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 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:20732852 RGD:6484530 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO DNA:polymorphism: :g.-765G>C (human)
protein:increased expression:sputum		 RGD PMID:21655952 PMID:15949313 RGD:5135277, RGD:5143926 NCBI chr13:64,714,063...64,722,320
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 7:130,754,883...130,777,303
Ensembl chr 7:128,875,773...128,898,521 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Rnasel ribonuclease L ISO RGD PMID:23913960 RGD:40902622 NCBI chr13:68,446,641...68,460,804
Ensembl chr13:65,901,459...65,908,704 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 ISO RGD PMID:21423603 RGD:5143980 NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ameliorates ISO DNA:SNP:cds:rs4809324 (human) RGD PMID:28360516 RGD:152985694 NCBI chr 3:188,778,329...188,842,877
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 1:215,406,138...215,409,686
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 chr13:79,009,379...79,044,994
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:1087161 PMID:1608473 PMID:1889260 PMID:2339709 More... RGD:4140387 NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Serpina3n serpin family A member 3N susceptibility ISO protein:increased expression:plasma
ClinVar Annotator: match by term: ANTICHYMOTRYPSIN BONN 1
DNA:missense mutations:Cds:p.L55P, P229A
DNA:polymorphism:exon:p.A-15T (human)		 ClinVar
RGD		 PMID:1351206 PMID:8102759 PMID:8244391 PMID:25741868 PMID:17261175 More... RGD:5147433, RGD:5147449, RGD:5147441 NCBI chr 6:129,088,392...129,095,950
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 chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Sftpa1 surfactant protein A1 susceptibility ISO protein:increased expression:lung
DNA:SNP:cds:p.L50V (human)
DNA:polymorphism:cds:c.186G>A (human)		 RGD PMID:19367700 PMID:19797132 PMID:11589345 RGD:4143288, RGD:4143281, RGD:4143423 NCBI chr16:17,042,264...17,045,770
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Sftpb surfactant protein B susceptibility
severity		 ISO DNA:polymorphism: :1580C>T (human)
DNA:SNP: :p.T131I (rs1130866) (human)
DNA:SNPs: :multiple (human)		 RGD PMID:15315329 PMID:15817713 PMID:11589345 PMID:18550614 RGD:4143402, RGD:4143396, RGD:4143423, RGD:4143290 NCBI chr 4:105,917,495...105,926,631
Ensembl chr 4:104,359,396...104,368,436 		JBrowse link
G Sftpc surfactant protein C disease_progression ISO DNA:polymorphism: :186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr15:52,006,274...52,009,324
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 chr16:17,080,575...17,093,047
Ensembl chr16:17,046,483...17,059,927 		JBrowse link
G Slc22a4 solute carrier family 22 member 4 treatment IEP RGD PMID:32707498 RGD:597538521 NCBI chr10:38,634,098...38,687,409
Ensembl chr10:38,133,322...38,179,720 		JBrowse link
G Slc22a5 solute carrier family 22 member 5 treatment IEP RGD PMID:32707498 RGD:597538521 NCBI chr10:38,509,072...38,536,240
Ensembl chr10:38,008,311...38,035,309 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 susceptibility ISO DNA:SNP: :rs2020936 (human) RGD PMID:20981038 RGD:4889426 NCBI chr10:62,322,688...62,357,060
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 3:173,501,573...173,503,822
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 chr18:69,518,988...69,549,684
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 chr19:51,072,209...51,155,639
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 chr14:62,822,865...62,828,602
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 9:56,964,617...57,080,523
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 chr18:27,606,196...27,612,544
Ensembl chr18:27,332,119...27,338,335 		JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr 1:4,195,400...4,245,485
Ensembl chr 1:2,375,490...2,424,756 		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 PMID:30791107 NCBI chr 1:31,465,766...31,488,650
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 1:90,324,312...90,340,627
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:3,766,509...3,772,578
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO decreased expression:protein:monocyte
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset
DNA:polymorphism:blood cells		 ClinVar
RGD		 PMID:10835634 PMID:12124407 PMID:15547160 PMID:15829498 PMID:16879199 More... RGD:4144145, RGD:4144119 NCBI chr 5:85,161,247...85,174,882
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:34652871 PMID:20352242 PMID:11179116 More... RGD:4143273, RGD:4143424, RGD:4143421, RGD:4143270, RGD:4143272, RGD:4145714, RGD:4143391 NCBI chr20:3,626,685...3,629,303
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 4:159,837,119...159,849,817
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 5:162,356,250...162,387,411
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 5:162,406,387...162,451,620
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 5:82,266,436...82,292,858
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 chr13:49,819,123...49,837,125
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 1:206,391,120...206,413,809
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 chr10:54,798,871...54,810,300
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 chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		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 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Xrcc5 X-ray repair cross complementing 5 susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:20463177 RGD:8698653 NCBI chr 9:81,404,507...81,493,293
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 chr10:67,525,975...67,530,576
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 4:47,422,084...47,694,646
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 9:69,812,859...69,819,959
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 8:66,991,940...66,998,014
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 1:205,269,967...205,280,365
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 chr17:22,660,799...22,666,687
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 chr14:18,916,255...18,951,670
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 2:198,338,005...198,346,007
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 chr20:12,856,068...12,873,020
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 8:27,829,688...27,841,618
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 chr13:45,024,921...45,029,586
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 chr10:38,290,926...38,293,483
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 chr19:42,536,160...42,611,349
Ensembl chr19:25,640,251...25,706,820 		JBrowse link
G Mpo myeloperoxidase IEP protein:increased expression:lung RGD PMID:11798689 RGD:5130990 NCBI chr10:73,092,124...73,102,057
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Nos2 nitric oxide synthase 2 IDA RGD PMID:19938219 RGD:4891494 NCBI chr10:64,313,335...64,349,221
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 4:80,212,111...80,219,310
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 9:22,452,854...22,468,194
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 chr11:91,226,524...91,240,244
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 chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Alb albumin ISO RGD PMID:24365562 RGD:11035274 NCBI chr14:17,891,564...17,907,043
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 3:130,269,979...130,280,109
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 chr10:67,525,975...67,530,576
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 chr10:67,503,077...67,504,875
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:17883726 PMID:15526056 RGD:4892098, RGD:4892090, RGD:4892104 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO RGD PMID:20656949 RGD:4892658 NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Clptm1l CLPTM1-like severity ISO associated with smoking; DNA:SNP:intron:rs31489(human) RGD PMID:21622582 RGD:150530642 NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:29,667,545...29,683,530 		JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:19537526 RGD:11039438 NCBI chr10:84,157,485...84,159,860
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 chr19:10,233,326...10,244,856
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 chr14:17,477,542...17,479,321
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 chr14:15,989,066...15,991,263
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 chr14:17,571,900...17,573,624
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 chr14:17,594,959...17,596,417
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 chr14:16,007,166...16,012,077
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:70,884,293...70,886,944
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 chr16:77,001,326...77,016,068
Ensembl chr16:70,298,863...70,313,604 		JBrowse link
G Ednra endothelin receptor type A IMP RGD PMID:19897563 RGD:4892307 NCBI chr19:47,137,360...47,207,961
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:18830406 PMID:16601242 RGD:5131973, RGD:5131853, RGD:5131892 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Elane elastase, neutrophil expressed IMP RGD PMID:12186827 RGD:10450557 NCBI chr 7:10,467,877...10,469,725
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Ephx1 epoxide hydrolase 1 susceptibility
no_association		 ISO associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:p.Y113H (rs1051740) (human)
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)		 CTD
RGD		 PMID:9288046 PMID:20525719 PMID:12579334 PMID:9288046 PMID:10853854 RGD:4140935, RGD:4889405, RGD:1601065, RGD:4889406 NCBI chr13:95,246,079...95,275,852
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 2:170,672,169...170,679,572
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Fstl1 follistatin-like 1 ISS OMIM:130700 MouseDO NCBI chr11:76,400,870...76,454,053
Ensembl chr11:62,779,783...62,948,677 		JBrowse link
G Fut8 fucosyltransferase 8 ISS OMIM:130700 MouseDO NCBI chr 6:101,682,354...101,909,784
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 8:87,510,251...87,548,896
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:20495862 RGD:4140927 NCBI chr 2:198,338,005...198,346,007
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 2:198,219,769...198,222,732
Ensembl chr 2:195,531,495...195,534,553 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP (human) RGD PMID:20525719 RGD:4140935 NCBI chr 1:210,767,237...210,770,242
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 chr20:42,101,815...42,126,486
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 chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Il13 interleukin 13 ISO RGD PMID:11067861 RGD:4145652 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il17ra interleukin 17 receptor A ISO RGD PMID:21647421 RGD:5144212 NCBI chr 4:155,339,742...155,362,382
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 8:59,802,072...59,829,275
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 9:50,157,326...50,222,888
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Itgb6 integrin subunit beta 6 ISO
ISS		 OMIM:130700
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:12634787 PMID:12634787 RGD:737734 NCBI chr 3:65,454,964...65,579,179
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 5:115,009,900...115,012,993
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 8:28,044,555...28,054,042
Ensembl chr 8:19,768,375...19,777,862 		JBrowse link
G Kl Klotho ISS OMIM:130700 MouseDO NCBI chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr18:48,162,889...48,175,640
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:17363767 RGD:4890375 NCBI chr 8:12,943,453...12,963,966
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 8:12,866,652...12,876,554
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 chr19:30,327,643...30,355,856
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:14605041 PMID:18408070 RGD:4892307, RGD:8547887, RGD:5130151 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISS OMIM:130700 MouseDO NCBI chr 1:212,219,793...212,225,214
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 3:81,001,529...81,031,165
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 6:78,593,844...78,597,307
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:22000010 PMID:20956973 RGD:4891488, RGD:5509103, RGD:4891415 NCBI chr10:64,313,335...64,349,221
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 4:11,686,088...11,706,604
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 chr19:52,205,374...52,220,267
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 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23144332 RGD:7242020 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:20472710 RGD:4891488 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptma prothymosin alpha ISS OMIM:130700 MouseDO NCBI chr 9:94,624,194...94,628,276
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 1:185,861,326...185,915,717
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 6:128,631,101...128,653,125
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Sftpc surfactant protein C susceptibility ISO DNA:polymorphism: :138A>C, 186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr15:52,006,274...52,009,324
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G Smo smoothened, frizzled class receptor ISS OMIM:130700 MouseDO NCBI chr 4:59,311,084...59,341,280
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 chr19:51,072,209...51,155,639
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 PMID:28492532 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 4:116,478,617...116,647,492
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 1:90,324,312...90,340,627
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 2:171,499,189...171,504,831
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 5:85,161,247...85,174,882
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 chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      respiratory system disease 5245
        lower respiratory tract disease 2361
          lung disease 2322
            obstructive lung disease 482
              chronic obstructive pulmonary disease 245
                Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome 0
                Chronic Bronchitis 17
                Mucus Inspissation of Respiratory Tract 0
                pulmonary emphysema + 68
paths to the root