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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;   OMIM: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, sub-family C member 1 severity ISO DNA:SNPs: :rs212093, rs4148382 (human)
mRNA:decreased expression:respiratory epithelial cell		 RGD PMID:20487524 PMID:12930913 RGD:5128824, RGD:5128827 NCBI chr16:14,179,317...14,292,743
Ensembl chr16:14,179,422...14,293,601 		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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Adam33 a disintegrin and 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 2:130,892,739...130,905,734
Ensembl chr 2:130,892,511...130,905,734 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO protein:increased expression:pulmonary artery RGD PMID:36522710 RGD:401850545 NCBI chr 8:25,439,627...25,507,138
Ensembl chr 8:25,439,627...25,506,943 		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 chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Adora2a adenosine A2a receptor IDA RGD PMID:16339780 RGD:4890385 NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618 		JBrowse link
G Adrb1 adrenergic receptor, 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:25741868 More... RGD:5129114 NCBI chr19:56,710,549...56,713,582
Ensembl chr19:56,710,631...56,721,545 		JBrowse link
G Adrb2 adrenergic receptor, beta 2 no_association
severity
disease_progression		 ISO DNA:SNPs: :rs1042717, rs1042718 (human)
DNA:polymorphism: :p.Q27E (human)
DNA:SNP: :p.R16G (human)
DNA:SNPs: :p.R16G, p.Q27E (human)
protein:decreased expression:blood, sputum, mononuclear cell		 RGD PMID:11527135 PMID:20525719 PMID:19293197 PMID:19747908 PMID:18667995 More... RGD:5129114, RGD:4140935, RGD:4145082, RGD:4145080, RGD:4145095, RGD:4145093, RGD:4144899, RGD:4145086 NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:20133931 RGD:6767312 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G Ang angiogenin, ribonuclease, RNase A family, 5 ISO protein:increased expression:sputum RGD PMID:21916917 RGD:6892708 NCBI chr14:51,328,607...51,339,462
Ensembl chr14:51,328,607...51,339,466 		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 7:83,895,486...84,059,201
Ensembl chr 7:83,895,486...84,059,384 		JBrowse link
G Bambi BMP and activin membrane-bound inhibitor ISO mRNA:increased expression:CD4+ T : RGD PMID:27549738 RGD:14390164 NCBI chr18:3,507,011...3,516,404
Ensembl chr18:3,507,923...3,516,404 		JBrowse link
G Bcl2l1 BCL2-like 1 ISO mRNA:increased expression:peripheral blood, neutrophil (human) RGD PMID:22686245 RGD:11353864 NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648 		JBrowse link
G Bdkrb2 bradykinin receptor, beta 2 ISO RGD PMID:16600946 RGD:4890451 NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496 		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 6:146,696,230...146,735,027
Ensembl chr 6:146,697,553...146,735,027 		JBrowse link
G Bnip3 BCL2/adenovirus E1B interacting protein 3 treatment ISO RGD PMID:25888379 RGD:11561985 NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248 		JBrowse link
G C3 complement component 3 ISO protein:increased expression:lung RGD PMID:17975205 RGD:5129504 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G C5ar1 complement component 5a receptor 1 ISO protein:increased expression:lung, mast cell RGD PMID:19926870 RGD:5130165 NCBI chr 7:15,980,668...15,993,465
Ensembl chr 7:15,980,668...15,993,465 		JBrowse link
G Casp12 caspase 12 treatment ISO RGD PMID:24694971 RGD:13782182 NCBI chr 9:5,345,419...5,373,034
Ensembl chr 9:5,345,430...5,373,032 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:28496315 RGD:13782303 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
G Casp8 caspase 8 treatment ISO RGD PMID:28496315 RGD:13782303 NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662 		JBrowse link
G Cat catalase ISO RGD PMID:20080081 RGD:4293707 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 severity ISO DNA:SNP:enhancer:rs2282691 (human) RGD PMID:16864713 RGD:4891410 NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 severity ISO RGD PMID:19925666 RGD:4145389 NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781 		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 chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664 		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 chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		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 chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:17868461 PMID:11475557 RGD:5130900, RGD:5130901 NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509 		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 chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO mRNA,protein:increased expression:macrophage RGD PMID:21327296 RGD:6483765 NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351 		JBrowse link
G Ccl8 C-C motif chemokine ligand 8 ISO RGD PMID:20970515 RGD:5131087 NCBI chr11:82,006,011...82,007,625
Ensembl chr11:82,006,011...82,007,625 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA, protein:increased expression:lung (rat) RGD PMID:19659652 RGD:2314483 NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581 		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 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO protein:increased expression:blood (human) RGD PMID:19229703 RGD:4892070 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Cd28 CD28 antigen ISO CD28 null allele is increased in COPD RGD PMID:18057064 PMID:19220836 RGD:5131620, RGD:5131618 NCBI chr 1:60,785,547...60,812,521
Ensembl chr 1:60,755,959...60,812,518 		JBrowse link
G Cd40 CD40 antigen severity ISO RGD PMID:20699612 RGD:5490968 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cd80 CD80 antigen ISO RGD PMID:19729666 RGD:4892292 NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697 		JBrowse link
G Cd86 CD86 antigen 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 chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443 		JBrowse link
G Cd8a CD8 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17950725 NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35303175 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35303175 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Cftr cystic fibrosis transmembrane conductance regulator disease_progression ISO DNA:polymorphism:cds:p.M470V(human) RGD PMID:18652532 RGD:4140431 NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:20656949 RGD:4892658 NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919 		JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3, cardiac ISO RGD PMID:19281093 RGD:5133441 NCBI chr13:9,925,522...10,411,131
Ensembl chr13:9,925,522...10,410,883 		JBrowse link
G Chrna3 cholinergic receptor, nicotinic, alpha polypeptide 3 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 9:54,917,401...54,933,846
Ensembl chr 9:54,917,395...54,933,846 		JBrowse link
G Chrna5 cholinergic receptor, nicotinic, alpha polypeptide 5 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 9:54,888,112...54,918,704
Ensembl chr 9:54,888,164...54,915,063 		JBrowse link
G Chrna7 cholinergic receptor, nicotinic, alpha polypeptide 7 disease_progression ISO DNA:CNV:: CNV-3956(human) RGD PMID:25407004 RGD:11074492 NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317 		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 3:144,710,298...144,738,537
Ensembl chr 3:144,709,578...144,738,537 		JBrowse link
G Cma1 chymase 1, mast cell ISO protein:increased expression:respiratory tract epithelium, mast cell (human) RGD PMID:18783610 RGD:5128552 NCBI chr14:56,178,908...56,182,132
Ensembl chr14:56,178,908...56,182,132 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO RGD PMID:15469929 RGD:5131854 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 treatment ISO DNA:SNP:intron: (rs242941) (human) RGD PMID:19210659 RGD:11097322 NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349 		JBrowse link
G Crp C-reactive protein, pentraxin-related severity ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:29329563 PMID:21506665 PMID:21468168 RGD:5131278, RGD:5131279 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598 		JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO protein:increased expression:sputum RGD PMID:19213775 RGD:5131476 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493 		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 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		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 chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:sputum RGD PMID:17925429 RGD:5135436 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G Cxcl11 chemokine (C-X-C motif) ligand 11 ISO protein:increased expression:sputum RGD PMID:17925429 RGD:5135436 NCBI chr 5:92,507,403...92,511,155
Ensembl chr 5:92,507,403...92,513,344 		JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15337792 PMID:23099361 PMID:28864214 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23099361 NCBI chr 5:91,051,758...91,053,797
Ensembl chr 5:91,051,730...91,053,797 		JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23099361 NCBI chr 5:90,933,960...90,935,952
Ensembl chr 5:90,933,962...90,937,459 		JBrowse link
G Cxcl5 C-X-C motif chemokine ligand 5 severity ISO RGD PMID:12857718 RGD:5135248 NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483 		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 chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 severity ISO RGD PMID:12857718 RGD:5135248 NCBI chr 1:74,193,153...74,200,405
Ensembl chr 1:74,193,150...74,200,405 		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:100,775,141...100,777,753
Ensembl chr  X:100,775,141...100,777,875 		JBrowse link
G Cyba cytochrome b-245, alpha polypeptide susceptibility ISO DNA:polymorphisms: :-930A>G, 242C>T (human)
DNA:polymorphism: :p.H72Y (human)		 RGD PMID:20080081 PMID:19567155 RGD:4293707, RGD:4304108 NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669 		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 9:57,905,307...57,934,314
Ensembl chr 9:57,913,694...57,934,306 		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 9:54,073,221...54,175,448
Ensembl chr 9:54,073,221...54,175,394 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 no_association
severity
susceptibility		 ISO DNA:polymorphisms: :2455A>G, 3801T>C (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism (human)
DNA:polymorphisms: :p.I462V, 3801T>C (human)		 CTD
RGD		 PMID:19022366 PMID:18389617 PMID:19507017 PMID:20080081 RGD:4892071, RGD:4892045, RGD:4293707 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		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 9:57,584,220...57,590,938
Ensembl chr 9:57,584,220...57,590,986 		JBrowse link
G Cyp2c29 cytochrome P450, family 2, subfamily c, polypeptide 29 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar PMID:25741868 NCBI chr19:39,275,541...39,319,157
Ensembl chr19:39,257,849...39,319,157 		JBrowse link
G Cyp2c65 cytochrome P450, family 2, subfamily c, polypeptide 65 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr19:39,049,450...39,082,392
Ensembl chr19:39,049,459...39,082,388 		JBrowse link
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 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G Cyp2j9 cytochrome P450, family 2, subfamily j, polypeptide 9 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 4:96,456,661...96,480,748
Ensembl chr 4:96,456,666...96,479,815 		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:28492532 NCBI chr 7:114,149,358...114,162,283
Ensembl chr 7:114,148,917...114,162,207 		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 chr12:108,300,568...108,328,497
Ensembl chr12:108,300,640...108,328,493 		JBrowse link
G Cyp4a31 cytochrome P450, family 4, subfamily a, polypeptide 31 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 4:115,420,824...115,436,212
Ensembl chr 4:115,420,846...115,436,212 		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 4:115,481,895...115,504,918
Ensembl chr 4:115,481,922...115,504,920 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 treatment ISO RGD PMID:24694971 RGD:13782182 NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157
Ensembl chr10:127,126,643...127,132,157 		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 chr 8:22,266,571...22,285,201
Ensembl chr 8:22,266,615...22,285,201 		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 chr13:38,335,357...38,382,553
Ensembl chr13:38,335,270...38,382,553 		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 chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		JBrowse link
G Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific ISO CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr 6:88,234,318...88,423,489
Ensembl chr 6:88,234,316...88,423,521 		JBrowse link
G Egfr epidermal growth factor receptor ISO protein:increased expression:bronchial epithelium (human) RGD PMID:16393673 PMID:22732689 RGD:5131627, RGD:7204496 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Egr1 early growth response 1 IMP
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 chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:25106431 PMID:16081882 RGD:1580326 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Ephx1 epoxide hydrolase 1, microsomal no_association
susceptibility		 ISO DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism
DNA:SNP:exon:p.H139R (rs2234922) (human)
DNA:SNPs: :multiple (human)		 CTD
RGD		 PMID:9288046 PMID:17564249 PMID:18811882 PMID:9288046 PMID:20932192 More... RGD:4889123, RGD:4889121, RGD:1601065, RGD:4889120, RGD:4889122 NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression:lung RGD PMID:17908459 RGD:2289953 NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521 		JBrowse link
G F2 coagulation factor II severity ISO RGD PMID:21660493 RGD:5147752 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO RGD PMID:21245013 RGD:4892586 NCBI chr13:95,648,226...95,661,748
Ensembl chr13:95,648,240...95,661,735 		JBrowse link
G Faim2 Fas apoptotic inhibitory molecule 2 ISO RGD PMID:29208459 RGD:13792601 NCBI chr15:99,394,886...99,432,757
Ensembl chr15:99,394,893...99,426,046 		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 6:58,910,521...59,001,487
Ensembl chr 6:58,909,075...59,001,534 		JBrowse link
G Fas Fas cell surface death receptor ISO RGD PMID:29208459 RGD:13792601 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fasl Fas ligand ISO RGD PMID:29208459 RGD:13792601 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO protein:increased expression:lung RGD PMID:15681497 RGD:5684420 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Foxo3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23099361 NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751 		JBrowse link
G Gc vitamin D binding protein ISO RGD
GAD		 PMID:9517617 PMID:15118671 RGD:5509932, RGD:1331525 NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757 		JBrowse link
G Grik5 glutamate receptor, ionotropic, kainate 5 (gamma 2) susceptibility ISO DNA:SNP: :rs8099939 RGD PMID:28900078 RGD:401900295 NCBI chr 7:24,709,274...24,775,421
Ensembl chr 7:24,709,274...24,771,771 		JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) susceptibility ISO DNA:SNP: :rs2268132 RGD PMID:28900078 RGD:401900295 NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509 		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 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		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:16919984 PMID:20467983 PMID:17532303 PMID:17439673 RGD:4142517, RGD:4140938, RGD:4142511, RGD:4142514 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		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 chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Gzma granzyme A ISO RGD PMID:20047264 RGD:5135520 NCBI chr13:113,230,358...113,237,515
Ensembl chr13:113,230,359...113,237,515 		JBrowse link
G Gzmb granzyme B ISO RGD PMID:20540777 RGD:5135516 NCBI chr14:56,496,293...56,499,791
Ensembl chr14:56,496,295...56,499,717 		JBrowse link
G Hc hemolytic complement severity ISO protein:increased expression:sputum RGD PMID:20500690 RGD:5129705 NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450 		JBrowse link
G Hdac2 histone deacetylase 2 treatment 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 chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885 		JBrowse link
G Hdac8 histone deacetylase 8 severity ISO mRNA:decreased expression:lung (human) RGD PMID:15888697 RGD:13208820 NCBI chr  X:101,328,244...101,549,005
Ensembl chr  X:101,328,245...101,548,965 		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 chr 8:80,692,480...80,784,637
Ensembl chr 8:80,692,480...80,784,635 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752192 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Hmox1 heme oxygenase 1 susceptibility
treatment
severity		 ISO DNA:polymorphism:promoter
ClinVar Annotator: match by term: HMOX1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:25741868 PMID:28492532 PMID:17203192 PMID:20705587 PMID:17254481 RGD:4145372, RGD:10755705, RGD:4145371 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Hp haptoglobin ISO RGD PMID:21471098 RGD:5144151 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804 		JBrowse link
G Hspa1a heat shock protein 1A ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr17:35,188,335...35,191,132
Ensembl chr17:35,188,166...35,191,132 		JBrowse link
G Hspa1b heat shock protein 1B ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr17:35,175,405...35,178,214
Ensembl chr17:35,175,412...35,178,214 		JBrowse link
G Hspa1l heat shock protein 1-like ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr17:35,191,679...35,198,204
Ensembl chr17:35,191,679...35,198,261 		JBrowse link
G Hspa4 heat shock protein 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 chr11:53,150,641...53,191,306
Ensembl chr11:53,150,641...53,191,284 		JBrowse link
G Htr2a 5-hydroxytryptamine (serotonin) receptor 2A susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs6313		 CTD
RGD		 PMID:22048642 PMID:28900078 RGD:401900295 NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO
IEP		 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 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Il12b interleukin 12b ISO DNA:polymorphism: : RGD PMID:19279357 RGD:4145423 NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860 		JBrowse link
G Il13 interleukin 13 susceptibility
no_association		 ISO DNA:polymorphism:promoter:c.-1055C>T (human)
DNA:polymorphisms:intron1,exon4s: rs2066960, rs20541, rs1295685 (human)
DNA:SNP:promoter:c.-1055 C>T (human)
DNA:polymorphism: :c. 1103C>T (human)		 RGD PMID:19995275 PMID:19796199 PMID:15820084 PMID:15308043 RGD:4145596, RGD:4145601, RGD:4145714, RGD:4145668 NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529 		JBrowse link
G Il13ra1 interleukin 13 receptor, alpha 1 ISO DNA:SNP: :rs2250747 (human) RGD PMID:19796199 RGD:4145601 NCBI chr  X:35,375,761...35,434,915
Ensembl chr  X:35,375,763...35,434,912 		JBrowse link
G Il16 interleukin 16 ISO protein:increased expression:lung RGD PMID:20079227 RGD:5024924 NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:respiratory mucosa
protein:increased expression:lung, bronchioalveolar lavage fluid (rat)		 RGD PMID:19604272 PMID:16200865 RGD:4889104, RGD:9068943 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720 		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 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il18bp interleukin 18 binding protein ISO protein:increased expression:serum RGD PMID:20026745 RGD:4889551 NCBI chr 7:101,664,281...101,669,699
Ensembl chr 7:101,664,092...101,667,897 		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 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO
IEP		 mRNA:increased expression:lung: RGD PMID:19927353 PMID:30952808 RGD:5144227, RGD:40400740 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility
no_association		 ISO DNA:polymorphism:intron (human)
protein:decreased expression:plasma
DNA:polymorphism (human)		 RGD PMID:18579366 PMID:19291375 PMID:18364273 RGD:4142866, RGD:4142861, RGD:4142868 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Il27 interleukin 27 ISO DNA:polymorphisms: :-964A>G, 2905T>G (human) RGD PMID:18554158 RGD:5128484 NCBI chr 7:126,188,181...126,194,197
Ensembl chr 7:126,188,182...126,194,113 		JBrowse link
G Il33 interleukin 33 IEP mRNA,protein:increased expression:lung: RGD PMID:30952808 RGD:40400740 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118 		JBrowse link
G Il5 interleukin 5 ISO protein:increased expression:serum RGD PMID:20858153 RGD:4890939 NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933 		JBrowse link
G Il5ra interleukin 5 receptor, alpha ISO protein:increased expression:serum RGD PMID:15286446 RGD:5128619 NCBI chr 6:106,687,336...106,725,998
Ensembl chr 6:106,687,318...106,725,998 		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 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Il9 interleukin 9 ISO protein:increased expression:sputum, macrophage, cytoplasm RGD PMID:15303135 RGD:5128691 NCBI chr13:56,627,090...56,630,070
Ensembl chr13:56,627,090...56,630,059 		JBrowse link
G Jun jun proto-oncogene IEP mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459 		JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:lung RGD PMID:15681497 RGD:5684420 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Klf5 Kruppel-like transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30639269 NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472 		JBrowse link
G Lcn3 lipocalin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28381600 NCBI chr 2:25,655,545...25,658,110
Ensembl chr 2:25,655,581...25,658,111 		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 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876 		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 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549 		JBrowse link
G Lrp1b low density lipoprotein-related protein 1B susceptibility ISO associated with lung adenocarcinoma;DNA:mutations:multiple: (human) RGD PMID:28522810 RGD:150429784 NCBI chr 2:40,485,302...42,543,747
Ensembl chr 2:40,485,258...42,543,636 		JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 severity ISO RGD PMID:20699612 RGD:5490968 NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123 		JBrowse link
G Map3k7 mitogen-activated protein kinase kinase kinase 7 IEP mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 severity ISO
IEP		 mRNA, protein:increased expression:lung (mouse) RGD PMID:20699612 PMID:34331613 RGD:5490968, RGD:155663371 NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 ISO DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:lung (human)		 RGD PMID:20688922 PMID:19411612 RGD:4889421, RGD:4889448 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO RGD PMID:23649916 RGD:7364780 NCBI chr 9:44,045,958...44,054,024
Ensembl chr 9:44,045,766...44,054,024 		JBrowse link
G Mgst1 microsomal glutathione S-transferase 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 6:138,117,525...138,133,753
Ensembl chr 6:138,117,314...138,133,753 		JBrowse link
G Mgst3 microsomal glutathione S-transferase 3 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 1:167,199,535...167,221,410
Ensembl chr 1:167,199,535...167,221,410 		JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752192 NCBI chr10:75,695,187...75,696,111
Ensembl chr10:75,695,187...75,696,074 		JBrowse link
G Mir126a microRNA 126a ISO RNA:decreased expression:lung RGD PMID:36522710 RGD:401850545 NCBI chr 2:26,481,369...26,481,441
Ensembl chr 2:26,481,369...26,481,441 		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 7:140,801,297...140,801,406
Ensembl chr 7:140,801,297...140,801,406 		JBrowse link
G Mir218-2 microRNA 218-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28864214 NCBI chr11:35,507,643...35,507,752
Ensembl chr11:35,507,643...35,507,752 		JBrowse link
G Mmp14 matrix metallopeptidase 14 (membrane-inserted) ISO CTD Direct Evidence: marker/mechanism CTD PMID:19661247 NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO mRNA:increased expression:bone (rat) RGD PMID:23173262 RGD:7207216 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, rate of decline of lung function in | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9850057 PMID:11741975 PMID:11875051 PMID:18030675 PMID:25741868 More... NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment
susceptibility
severity		 ISO 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 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mpo myeloperoxidase severity ISO protein:increased activity:plasma
protein:increased expression:serum		 RGD PMID:19491038 PMID:10917466 RGD:5130997, RGD:5130993 NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239 		JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr17:66,643,975...66,760,672
Ensembl chr17:66,643,977...66,756,745 		JBrowse link
G Muc1 mucin 1, transmembrane ISO protein:increased expression:sputum (human) RGD PMID:21474912 RGD:5131160 NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688 		JBrowse link
G Muc5ac mucin 5, subtypes A and C, tracheobronchial/gastric treatment ISO mRNA, protein:increased expression:lung
protein:increased expression:bronchi		 RGD PMID:17637221 PMID:22282955 PMID:19723147 RGD:4145655, RGD:7349406, RGD:5131190 NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968 		JBrowse link
G Muc5b mucin 5, subtype B, tracheobronchial ISO protein:increased expression:sputum RGD PMID:18776153 RGD:5131169 NCBI chr 7:141,392,796...141,426,826
Ensembl chr 7:141,392,807...141,426,821 		JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO DNA:polymorphisms: : RGD PMID:17442289 PMID:12884528 RGD:4892219, RGD:5131863 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO protein:decreased expression:lung
protein:increased expression:lung		 RGD PMID:18556627 PMID:22737924 RGD:5134980, RGD:10412732 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 severity ISO DNA:SNP:intron: (rs1077861) (human) RGD PMID:21943069 RGD:5508720 NCBI chr 8:89,373,943...89,415,103
Ensembl chr 8:89,373,943...89,415,102 		JBrowse link
G Nos1 nitric oxide synthase 1, neuronal severity ISO protein:increased expression:skeletal muscle
mRNA, protein:increased expression:lung		 RGD PMID:12816735 PMID:19797159 RGD:5132628, RGD:5132607 NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO protein:increased expression:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21843929 PMID:12797490 RGD:4891444 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO CTD Direct Evidence: marker/mechanism CTD PMID:21843929 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Nqo1 NAD(P)H dehydrogenase, quinone 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 chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838 		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 chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474 		JBrowse link
G Ntf3 neurotrophin 3 ISO mRNA:decreased expression:bronchus RGD PMID:15843147 RGD:4891120 NCBI chr 6:126,078,375...126,143,703
Ensembl chr 6:126,078,375...126,143,873 		JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 ISO protein:increased expression:bronchiolar epithelial cell RGD PMID:21429417 RGD:5684530 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469 		JBrowse link
G Plau plasminogen activator, urokinase severity ISO proteine:increased expression:sputum, neutrophil RGD PMID:20624254 PMID:17651644 RGD:6483803, RGD:6484146 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453 		JBrowse link
G Plaur plasminogen activator, urokinase receptor ISO protein:increased expression:bronchus RGD PMID:17651644 RGD:6484146 NCBI chr 7:24,161,857...24,175,393
Ensembl chr 7:24,161,909...24,175,393 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:16380766 RGD:8547571 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO RGD PMID:20732852 RGD:6484530 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		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 chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Rapgef3 Rap guanine nucleotide exchange factor (GEF) 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363678 NCBI chr15:97,637,886...97,666,300
Ensembl chr15:97,642,651...97,665,853 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) IEP mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Rnasel ribonuclease L (2', 5'-oligoisoadenylate synthetase-dependent) IMP RGD PMID:23913960 RGD:40902622 NCBI chr 1:153,625,089...153,644,441
Ensembl chr 1:153,625,172...153,639,967 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ameliorates ISO DNA:SNP:cds:rs4809324 (human) RGD PMID:28360516 RGD:152985694 NCBI chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409 		JBrowse link
G Scgb1a1 secretoglobin, family 1A, member 1 ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322 		JBrowse link
G Selp selectin, platelet severity ISO protein:increased expression:plasma RGD PMID:20646456 RGD:6478682 NCBI chr 1:163,942,833...163,977,595
Ensembl chr 1:163,942,833...163,977,595 		JBrowse link
G Serpina3b serine (or cysteine) peptidase inhibitor, clade A, member 3B susceptibility ISO DNA:polymorphism:exon:p.A-15T (human)
ClinVar Annotator: match by term: ANTICHYMOTRYPSIN BONN 1		 RGD
ClinVar		 PMID:1351206 PMID:8102759 PMID:8244391 PMID:10849024 PMID:25741868 RGD:5147441 NCBI chr12:104,094,245...104,105,805
Ensembl chr12:104,094,255...104,105,804 		JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N susceptibility ISO protein:increased expression:plasma
DNA:missense mutations:Cds:p.L55P, P229A
DNA:polymorphism:exon:p.A-15T (human)		 RGD PMID:17261175 PMID:8244391 PMID:10849024 RGD:5147433, RGD:5147449, RGD:5147441 NCBI chr12:104,372,967...104,380,588
Ensembl chr12:104,372,988...104,380,588 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:bronchus RGD PMID:11929177 PMID:17651644 RGD:4144041, RGD:6484146 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Sftpa1 surfactant associated 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 chr14:40,853,745...40,858,330
Ensembl chr14:40,853,739...40,858,409 		JBrowse link
G Sftpb surfactant associated 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 6:72,281,594...72,291,354
Ensembl chr 6:72,281,594...72,291,354 		JBrowse link
G Sftpc surfactant associated protein C disease_progression ISO DNA:polymorphism: :186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521 		JBrowse link
G Sftpd surfactant associated 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 chr14:40,894,169...40,907,155
Ensembl chr14:40,894,171...40,907,106 		JBrowse link
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 susceptibility ISO DNA:SNP: :rs2020936 (human) RGD PMID:20981038 RGD:4889426 NCBI chr11:76,889,423...76,923,169
Ensembl chr11:76,889,429...76,923,166 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor treatment ISO RGD PMID:18375249 RGD:9999419 NCBI chr 2:164,195,990...164,231,086
Ensembl chr 2:164,195,990...164,231,015 		JBrowse link
G Smad4 SMAD family member 4 treatment ISO RGD PMID:18375249 RGD:9999419 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3, neutral ISO protein:increased expression:lung: RGD PMID:20448054 RGD:10041059 NCBI chr 8:106,979,180...107,064,597
Ensembl chr 8:106,979,180...107,064,620 		JBrowse link
G Sod3 superoxide dismutase 3, extracellular 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 chr 5:52,521,146...52,527,080
Ensembl chr 5:52,521,133...52,528,760 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO protein:increased expression:lung RGD PMID:24321062 RGD:8661725 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348 		JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 IEP associated with Haemophilus Infections;mRNA, protein:increased expression:lung (mouse) RGD PMID:29421524 RGD:39128228 NCBI chr18:35,866,731...35,873,607
Ensembl chr18:35,866,732...35,873,607 		JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 IEP mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr10:7,781,412...7,832,039
Ensembl chr10:7,781,417...7,831,994 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar PMID:25741868 PMID:28492532 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 no_association
susceptibility		 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 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 treatment ISO RGD PMID:25842729 RGD:13207319 NCBI chr  X:20,736,524...20,740,972
Ensembl chr  X:20,736,405...20,740,974 		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 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		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 chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a severity ISO protein:increased expression:plasma (human) RGD PMID:19643942 RGD:5131203 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b severity ISO protein:increased expression:sputum (human) RGD PMID:21037022 RGD:5131154 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440 		JBrowse link
G Tnfrsf8 tumor necrosis factor receptor superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29984229 NCBI chr 4:144,993,702...145,041,734
Ensembl chr 4:144,993,707...145,041,734 		JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29984229 NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584 		JBrowse link
G Tnnt2 troponin T2, cardiac ISO CTD Direct Evidence: marker/mechanism CTD PMID:18068611 NCBI chr 1:135,763,933...135,780,006
Ensembl chr 1:135,764,092...135,779,998 		JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 7:141,435,317...141,456,198
Ensembl chr 7:141,428,550...141,472,244 		JBrowse link
G Trp53 transformation related protein 53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17274270 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245013 NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO protein:increased expression:lung RGD PMID:15681497 PMID:20705587 RGD:5684420, RGD:10755705 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Xrcc5 X-ray repair complementing defective repair in Chinese hamster cells 5 susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:20463177 RGD:8698653 NCBI chr 1:72,346,576...72,434,112
Ensembl chr 1:72,346,586...72,434,111 		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 chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781 		JBrowse link
G Cftr cystic fibrosis 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 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO DNA:SNPs: :multiple (human) RGD PMID:19386687 RGD:4891509 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 susceptibility ISO DNA:polymorphism (human) RGD PMID:15928955 RGD:4142512 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107 		JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:polymorphism (human) RGD PMID:14593914 RGD:4889126 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900 		JBrowse link
G Edn1 endothelin 1 IEP Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse) RGD PMID:18631350 RGD:4145074 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		JBrowse link
G Gc vitamin D binding protein susceptibility ISO RGD PMID:12096683 RGD:5129516 NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757 		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 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion: : RGD PMID:15928955 RGD:4142512 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:bronchial epithelium (rat) RGD PMID:19507274 RGD:2308951 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Il10 interleukin 10 ISO protein:decreased expression:lung RGD PMID:19507274 RGD:2308951 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Il13 interleukin 13 ISO protein:increased expression:Respiratory Mucosa RGD PMID:14582911 RGD:4759835 NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529 		JBrowse link
G Il15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 8:83,058,253...83,129,883
Ensembl chr 8:83,058,261...83,129,851 		JBrowse link
G Mpo myeloperoxidase ISO protein:increased expression:lung RGD PMID:11798689 RGD:5130990 NCBI chr11:87,684,610...87,695,238
Ensembl chr11:87,684,407...87,695,239 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO RGD PMID:19938219 RGD:4891494 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:9731035 NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19263519 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		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 IMP RGD PMID:20935231 RGD:5686887 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30659203 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G Alb albumin ISO RGD PMID:24365562 RGD:11035274 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin IAGP OMIM:130700 MouseDO NCBI chr 2:122,580,425...122,591,407
Ensembl chr 2:122,580,423...122,591,395 		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 chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781 		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 chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 IMP
ISO
IEP		 protein:increased expression:lung, lymphocyte (human)
mRNA, protein:increased expression:lung (mouse)		 RGD PMID:17883726 PMID:15526056 PMID:16284650 RGD:4892090, RGD:4892104, RGD:4892098 NCBI chr 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736 		JBrowse link
G Chi3l1 chitinase 3 like 1 IMP RGD PMID:20656949 RGD:4892658 NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919 		JBrowse link
G Clptm1l CLPTM1-like severity ISO associated with smoking; DNA:SNP:intron:rs31489(human) RGD PMID:21622582 RGD:150530642 NCBI chr13:73,752,121...73,768,758
Ensembl chr13:73,752,125...73,768,724 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) treatment ISO RGD PMID:19537526 RGD:11039438 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:18772344 RGD:4891888 NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr 5:91,039,104...91,040,980
Ensembl chr 5:91,039,100...91,040,974 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748 		JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 IEP mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr 5:90,933,960...90,935,952
Ensembl chr 5:90,933,962...90,937,459 		JBrowse link
G Cxcl5 C-X-C motif chemokine ligand 5 IEP mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15526056 RGD:4892104 NCBI chr  X:100,775,141...100,777,753
Ensembl chr  X:100,775,141...100,777,875 		JBrowse link
G Cyp2a5 cytochrome P450, family 2, subfamily a, polypeptide 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12832682 NCBI chr 7:26,534,764...26,542,689
Ensembl chr 7:26,534,730...26,542,973 		JBrowse link
G Defb1 defensin beta 1 IEP mRNA:decreased expression:lung RGD PMID:18699806 RGD:4892249 NCBI chr 8:22,266,571...22,285,201
Ensembl chr 8:22,266,615...22,285,201 		JBrowse link
G Ednra endothelin receptor type A ISO RGD PMID:19897563 RGD:4892307 NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093 		JBrowse link
G Egr1 early growth response 1 resistance IEP
ISO
IMP		 associated with Tobacco Use Disorder;protein:increased expression:lung, epithelial cell (mouse)
mRNA, protein:increased expression:lung (human)		 RGD PMID:16601242 PMID:11021835 PMID:18830406 RGD:5131892, RGD:5131973, RGD:5131853 NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037 		JBrowse link
G Elane elastase, neutrophil expressed ISO RGD PMID:12186827 RGD:10450557 NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177 		JBrowse link
G Ephx1 epoxide hydrolase 1, microsomal 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 chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469 		JBrowse link
G Fga fibrinogen alpha chain ISO protein:increased expression:plasma (rat) RGD PMID:20949089 RGD:11040553 NCBI chr 3:82,933,460...82,940,934
Ensembl chr 3:82,933,383...82,940,934 		JBrowse link
G Fstl1 follistatin-like 1 IAGP OMIM:130700 MouseDO NCBI chr16:37,597,417...37,656,878
Ensembl chr16:37,597,235...37,656,876 		JBrowse link
G Fut8 fucosyltransferase 8 IAGP OMIM:130700 MouseDO NCBI chr12:77,284,878...77,522,770
Ensembl chr12:77,284,899...77,523,112 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO RGD PMID:19879314 RGD:5134681 NCBI chr 9:77,661,817...77,701,771
Ensembl chr 9:77,661,817...77,701,767 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO DNA:deletion: : RGD PMID:20495862 RGD:4140927 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstm3 glutathione S-transferase, mu 3 ISO RGD PMID:19723343 RGD:5135041 NCBI chr 3:107,871,019...107,876,484
Ensembl chr 3:107,871,012...107,876,599 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:19723343 RGD:5135041 NCBI chr 3:107,803,240...107,806,002
Ensembl chr 3:107,803,137...107,806,002 		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 chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		JBrowse link
G Hdac2 histone deacetylase 2 treatment ISO
IEP		 mRNA,proetin:increased expression,increased activity,hyperphosphorylation,hypercarbonylation:lung: RGD PMID:23326540 PMID:24040961 RGD:9590245, RGD:9590320 NCBI chr10:36,850,293...36,877,885
Ensembl chr10:36,850,540...36,877,885 		JBrowse link
G Hhip Hedgehog-interacting protein IMP DNA:haplotype insufficiency: : RGD PMID:25763110 RGD:11552596 NCBI chr 8:80,692,480...80,784,637
Ensembl chr 8:80,692,480...80,784,635 		JBrowse link
G Hmox1 heme oxygenase 1 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10631150 PMID:10631150 RGD:1601606 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Il13 interleukin 13 IMP RGD PMID:11067861 RGD:4145652 NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529 		JBrowse link
G Il17ra interleukin 17 receptor A IMP RGD PMID:21647421 RGD:5144212 NCBI chr 6:120,440,143...120,460,692
Ensembl chr 6:120,440,208...120,464,520 		JBrowse link
G Il18 interleukin 18 IMP
ISO		 mRNA, protein:increased expression:respiratory system fluid/secretion, macrophage RGD PMID:17400729 PMID:23392573 RGD:4889590, RGD:8655969 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 treatment IMP associated with common cold; RGD PMID:30952808 RGD:40400740 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575 		JBrowse link
G Itgb6 integrin beta 6 IMP
ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:130700		 CTD
MouseDO
RGD		 PMID:12634787 PMID:12634787 RGD:737734 NCBI chr 2:60,428,636...60,553,005
Ensembl chr 2:60,428,636...60,552,987 		JBrowse link
G Jun jun proto-oncogene IAGP OMIM:130700 MouseDO NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459 		JBrowse link
G Keap1 kelch-like ECH-associated protein 1 onset ISO
IMP		 protein:increased expression:lung (human) RGD PMID:18559366 PMID:19520915 RGD:5134973, RGD:6893395 NCBI chr 9:21,141,026...21,150,628
Ensembl chr 9:21,141,026...21,150,657 		JBrowse link
G Kl klotho IAGP OMIM:130700 MouseDO NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr18:52,649,132...52,662,939
Ensembl chr18:52,649,139...52,662,939 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12634787 PMID:25106431 NCBI chr 9:7,344,397...7,360,461
Ensembl chr 9:7,344,381...7,369,499 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:17363767 RGD:4890375 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:17363767 RGD:4890375 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased activity:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25106431 PMID:19897563 RGD:4892307 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment 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 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit IAGP OMIM:130700 MouseDO NCBI chr19:5,532,589...5,538,461
Ensembl chr19:5,532,373...5,538,430 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO protein:decreased expression:lung: RGD PMID:18559366 RGD:5134973 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha treatment ISO RGD PMID:20472710 RGD:4891488 NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432 		JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO
IEP
IMP		 protein:increased expression:lung
mRNA,protein:increased expression:lung		 RGD PMID:20472710 PMID:20956973 PMID:22000010 RGD:4891488, RGD:4891415, RGD:5509103 NCBI chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell IEP mRNA,protein:increased expression:lung RGD PMID:20956973 RGD:4891415 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Nqo1 NAD(P)H dehydrogenase, quinone 1 ISO mRNA:decreased expression:lung RGD PMID:18559366 RGD:5134973 NCBI chr 8:108,114,856...108,139,012
Ensembl chr 8:108,114,857...108,129,838 		JBrowse link
G Pgf placental growth factor IEP mRNA, protein:increased expression:lung, plasma RGD PMID:17023518 RGD:5135245 NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564 		JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha IDA RGD PMID:23144332 RGD:7242020 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:20472710 RGD:4891488 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Scnn1b sodium channel, nonvoltage-gated 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27982104 NCBI chr 7:121,464,261...121,517,951
Ensembl chr 7:121,464,261...121,517,737 		JBrowse link
G Sftpc surfactant associated protein C susceptibility ISO DNA:polymorphism: :138A>C, 186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3, neutral ISO protein:increased expression:lung: RGD PMID:20448054 RGD:10041059 NCBI chr 8:106,979,180...107,064,597
Ensembl chr 8:106,979,180...107,064,620 		JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr18:52,598,703...52,625,005
Ensembl chr18:52,598,765...52,625,003 		JBrowse link
G Tacr1 tachykinin receptor 1 IMP RGD PMID:19445658 RGD:5147818 NCBI chr 6:82,378,990...82,537,085
Ensembl chr 6:82,379,315...82,537,085 		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 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tlr2 toll-like receptor 2 IEP protein:increased expression:alveolar macrophage RGD PMID:18399852 RGD:4145342 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr4 toll-like receptor 4 IMP
IAGP		 OMIM:130700 MouseDO
RGD		 PMID:17053835 RGD:4144170 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      respiratory system disease 3509
        lower respiratory tract disease 2293
          lung disease 2256
            obstructive lung disease 473
              chronic obstructive pulmonary disease 241
                Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome 0
                Chronic Bronchitis 17
                Mucus Inspissation of Respiratory Tract 0
                pulmonary emphysema + 67
paths to the root