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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.

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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 (ABCC1 blood group) severity ISO mRNA:decreased expression:respiratory epithelial cell
DNA:SNPs: :rs212093, rs4148382 (human)		 RGD PMID:12930913 PMID:20487524 RGD:5128824 RGD:5128827 NCBI chr 5:14,972,589...15,164,594
Ensembl chr 5:14,972,646...15,164,567 		JBrowse link
G ADAM33 ADAM metallopeptidase domain 33 susceptibility
no_association		 ISO DNA:polymorphisms: :multiple (human)
DNA:polymorphisms (human)		 RGD PMID:19284602 PMID:20003279 PMID:20156753 RGD:4145357 RGD:4145358 RGD:4145361 NCBI chr 2:34,352,514...34,366,694
Ensembl chr 2:34,353,505...34,366,559 		JBrowse link
G ADAM9 ADAM metallopeptidase domain 9 ISO protein:increased expression:pulmonary artery RGD PMID:36522710 RGD:401850545 NCBI chr 8:37,017,827...37,131,462
Ensembl chr 8:37,017,545...37,131,615 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing disease_progression ISO associated with Metabolic Syndrome X;protein:decreased expression:serum RGD PMID:21179920 PMID:22207678 RGD:5686379 RGD:5686825 NCBI chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391 		JBrowse link
G ADORA2A adenosine A2a receptor ISO RGD PMID:16339780 RGD:4890385 NCBI chr19:7,691,678...7,706,781
Ensembl chr19:7,691,536...7,706,926 		JBrowse link
G ADRB1 adrenoceptor beta 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar PMID:10212248 PMID:12374873 PMID:16844790 PMID:17496726 NCBI chr 9:106,920,520...106,923,424
Ensembl chr 9:106,920,610...106,922,058 		JBrowse link
G ADRB2 adrenoceptor beta 2 severity
disease_progression
no_association		 ISO DNA:SNP: :p.R16G (human)
DNA:SNPs: :rs1042717, rs1042718 (human)
DNA:SNPs: :p.R16G, p.Q27E (human)
protein:decreased expression:blood, sputum, mononuclear cell
DNA:polymorphism: :p.Q27E (human)		 RGD PMID:11527135 PMID:18667995 PMID:18789663 PMID:19080468 PMID:19293197 More... RGD:4140935 RGD:4144899 RGD:4145080 RGD:4145082 RGD:4145086 RGD:4145093 RGD:4145095 RGD:5129114 NCBI chr23:51,445,920...51,447,942
Ensembl chr23:51,446,154...51,447,401 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO ClinVar Annotator: match by term: COPD, severe early onset ClinVar NCBI chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127 		JBrowse link
G ANG angiogenin ISO protein:increased expression:sputum RGD PMID:21916917 RGD:6892708 NCBI chr29:21,215,985...21,226,927 JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr26:2,790,059...2,990,760
Ensembl chr26:2,794,372...2,990,814 		JBrowse link
G BAMBI BMP and activin membrane bound inhibitor ISO mRNA:increased expression:CD4+ T : RGD PMID:27549738 RGD:14390164 NCBI chr 9:28,279,479...28,284,825
Ensembl chr 9:28,279,523...28,285,937 		JBrowse link
G BCL2L1 BCL2 like 1 ISO mRNA:increased expression:peripheral blood, neutrophil (human) RGD PMID:22686245 RGD:11353864 NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470 		JBrowse link
G BDKRB2 bradykinin receptor B2 ISO RGD PMID:16600946 RGD:4890451 NCBI chr24:74,084,907...74,125,604
Ensembl chr24:74,118,210...74,122,909 		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 chr11:27,067,523...27,141,740
Ensembl chr11:27,067,604...27,136,466 		JBrowse link
G BNIP3 BCL2 interacting protein 3 treatment ISO RGD PMID:25888379 RGD:11561985 NCBI chr 9:124,570,958...124,586,002
Ensembl chr 9:124,568,695...124,585,980 		JBrowse link
G C3 complement C3 ISO protein:increased expression:lung RGD PMID:17975205 RGD:5129504 NCBI chr 6:6,250,422...6,289,264 JBrowse link
G C5 complement C5 severity ISO protein:increased expression:sputum RGD PMID:20500690 RGD:5129705 NCBI chr12:18,525,855...18,624,048
Ensembl chr12:18,525,880...18,623,636 		JBrowse link
G C5AR1 complement C5a receptor 1 ISO protein:increased expression:lung, mast cell RGD PMID:19926870 RGD:5130165 NCBI chr 6:40,633,540...40,651,839
Ensembl chr 6:40,633,448...40,652,845 		JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:28496315 RGD:13782303 NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899 		JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:28496315 RGD:13782303 NCBI chr10:86,888,654...86,944,159
Ensembl chr10:86,916,527...86,943,829 		JBrowse link
G CAT catalase ISO RGD PMID:20080081 RGD:4293707 NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592 		JBrowse link
G CCL1 C-C motif chemokine ligand 1 severity ISO DNA:SNP:enhancer:rs2282691 (human) RGD PMID:16864713 RGD:4891410 NCBI chr16:27,868,925...27,890,143 JBrowse link
G CCL11 C-C motif chemokine ligand 11 severity ISO RGD PMID:19925666 RGD:4145389 NCBI chr16:27,792,699...27,796,437
Ensembl chr16:27,794,033...27,796,460 		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 5:43,343,525...43,350,096
Ensembl chr 5:43,346,329...43,348,599 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:20497022 PMID:34652871 RGD:4891429 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		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
G CCL5 C-C motif chemokine ligand 5 ISO mRNA, protein:increased expression:lung, bronchial epithelium, submucosa (human) RGD PMID:19703829 RGD:4891477 NCBI chr16:29,351,214...29,361,317 JBrowse link
G CCL7 C-C motif chemokine ligand 7 ISO mRNA,protein:increased expression:macrophage RGD PMID:21327296 RGD:6483765 NCBI chr16:27,777,795...27,780,413 JBrowse link
G CCL8 C-C motif chemokine ligand 8 ISO RGD PMID:20970515 RGD:5131087 NCBI chr16:27,821,149...27,823,919
Ensembl chr16:27,821,970...27,823,528 		JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA, protein:increased expression:lung (rat) RGD PMID:19659652 RGD:2314483 NCBI chr13:41,613,838...41,617,010
Ensembl chr13:41,613,798...41,617,651 		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 chr22:7,648,410...7,698,523
Ensembl chr22:7,697,068...7,698,135 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO protein:increased expression:blood (human) RGD PMID:19229703 RGD:4892070 NCBI chr22:7,803,794...7,818,112 JBrowse link
G CD28 CD28 molecule ISO CD28 null allele is increased in COPD RGD PMID:18057064 PMID:19220836 RGD:5131618 RGD:5131620 NCBI chr10:89,471,710...89,505,152
Ensembl chr10:89,471,730...89,500,387 		JBrowse link
G CD40 CD40 molecule severity ISO RGD PMID:20699612 RGD:5490968 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566 		JBrowse link
G CD80 CD80 molecule ISO RGD PMID:19729666 RGD:4892292 NCBI chr22:61,258,281...61,294,772 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:4891504 RGD:4892292 NCBI chr22:58,741,534...58,805,417
Ensembl chr22:58,741,525...58,805,366 		JBrowse link
G CD8A CD8 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17950725 NCBI chr14:18,878,013...18,885,183
Ensembl chr14:18,878,622...18,883,885 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35303175 NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342 		JBrowse link
G CFTR CF transmembrane conductance regulator disease_progression ISO DNA:polymorphism:cds:p.M470V(human) RGD PMID:18652532 RGD:4140431 NCBI chr21:86,154,313...86,332,436 JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:20656949 RGD:4892658 NCBI chr25:26,160,993...26,169,005
Ensembl chr25:26,160,961...26,169,566 		JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 ISO RGD PMID:19281093 RGD:5133441 NCBI chr25:76,772,212...77,009,433
Ensembl chr25:77,001,477...77,003,249 		JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit disease_progression
susceptibility		 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:22441734 PMID:23056235 PMID:23207642 PMID:26751916 PMID:29993116 RGD:150526806 RGD:150527850 RGD:151347455 RGD:151347536 RGD:151347538 NCBI chr26:4,721,145...4,747,694
Ensembl chr26:4,722,489...4,737,164 		JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit susceptibility ISO associated with smoking; DNA:SNP::rs16969968 (human)
associated with lung cancer; DNA:SNP::rs16969968 (human)		 RGD PMID:29993116 PMID:33419953 RGD:150524357 RGD:150526806 NCBI chr26:4,747,734...4,779,231
Ensembl chr26:4,749,766...4,776,822 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit disease_progression ISO DNA:CNV:: CNV-3956(human) RGD PMID:25407004 RGD:11074492 NCBI chr26:50,554,143...50,686,847
Ensembl chr26:50,551,829...50,686,803 		JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr26:4,700,217...4,717,363
Ensembl chr26:4,701,321...4,719,319 		JBrowse link
G CLCA1 chloride channel accessory 1 severity ISO mRNA:increased expression:bronchus
DNA:SNPs: :multiple (human)		 RGD PMID:14985398 PMID:17637221 RGD:1331524 RGD:4145655 NCBI chr20:46,930,713...46,964,301
Ensembl chr20:46,927,412...46,963,737 		JBrowse link
G CMA1 chymase 1 ISO protein:increased expression:respiratory tract epithelium, mast cell (human) RGD PMID:18783610 RGD:5128552 NCBI chr24:1,471,767...1,475,062
Ensembl chr24:1,471,725...1,474,692 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO RGD PMID:15469929 RGD:5131854 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G CRP C-reactive protein severity ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum 		RGD
CTD		 PMID:21468168 PMID:21506665 PMID:29329563 RGD:5131278 RGD:5131279 NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377 		JBrowse link
G CSF2 colony stimulating factor 2 ISO protein:increased expression:sputum RGD PMID:19213775 RGD:5131476 NCBI chr23:34,906,987...34,911,252
Ensembl chr23:34,908,911...34,911,140 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP: :-318C>T (rs5742909) (human) RGD PMID:20732370 PMID:21129004 RGD:4891499 RGD:4891504 NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344 		JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum		 CTD
RGD		 PMID:20858153 PMID:23099361 RGD:4890939 NCBI chr 7:22,327,041...22,329,405
Ensembl chr 7:22,569,355...22,569,900
Ensembl chr 7:22,569,355...22,569,900 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:sputum RGD PMID:17925429 RGD:5135436 NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130 		JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 ISO protein:increased expression:sputum RGD PMID:17925429 RGD:5135436 NCBI chr 7:24,540,401...24,543,456
Ensembl chr 7:24,541,767...24,542,832 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15337792 PMID:23099361 PMID:28864214 NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:sputum RGD PMID:17925429 PMID:19229703 RGD:4892070 RGD:5135436 NCBI chr 7:24,507,121...24,513,830
Ensembl chr 7:24,507,130...24,513,121 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 disease_progression ISO protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19017998 PMID:19218194 RGD:4145632 RGD:5135435 NCBI chr  X:61,430,723...61,433,777
Ensembl chr  X:61,430,725...61,433,386 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr26:9,122,008...9,151,844 JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 severity
susceptibility
no_association		 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism (human)
DNA:polymorphisms: :p.I462V, 3801T>C (human)
DNA:polymorphisms: :2455A>G, 3801T>C (human)		 CTD
RGD		 PMID:18389617 PMID:19022366 PMID:19507017 PMID:20080081 RGD:4293707 RGD:4892045 RGD:4892071 NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 susceptibility ISO DNA:polymorphisms: :-3860G>A (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:20080081 PMID:20797314 RGD:4293707 NCBI chr26:8,727,996...8,733,254 JBrowse link
G CYP2C8 cytochrome P450 family 2 subfamily C member 8 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 9:88,154,131...88,183,915
Ensembl chr 9:88,154,134...88,183,458 		JBrowse link
G CYP2C9 cytochrome P450 family 2 subfamily C member 9 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 9:88,082,124...88,125,390 JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO DNA:polymorphisms: :-1293G>C, 7632T>A, 9893C>G (human) RGD PMID:17442289 RGD:4892219 NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211 		JBrowse link
G CYP2J2 cytochrome P450 family 2 subfamily J member 2 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr20:73,083,312...73,115,174
Ensembl chr20:73,083,389...73,115,077 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:50,030,366...50,043,833
Ensembl chr 1:50,031,218...50,047,403 		JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr24:77,641,068...77,684,722
Ensembl chr24:77,641,034...77,684,741 		JBrowse link
G CYP4B1 cytochrome P450 family 4 subfamily B member 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr20:85,997,796...86,018,649
Ensembl chr20:85,996,269...86,018,055 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 treatment ISO RGD PMID:24694971 RGD:13782182 NCBI chr11:53,424,693...53,429,094
Ensembl chr11:53,424,868...53,425,576 		JBrowse link
G DEFB1 defensin beta 1 no_association
susceptibility		 ISO DNA:SNPs: :multiple (human)
DNA:polymorphism: :668C>G (human)
DNA:polymorphism (human)		 RGD PMID:11829455 PMID:15569478 PMID:16700921 RGD:1331523 RGD:4892251 RGD:4892257 NCBI chr 8:6,643,753...6,652,209
Ensembl chr 8:6,643,556...6,651,699 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr17:64,611,243...64,656,297
Ensembl chr17:64,611,103...64,656,366 		JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:sputum (human)
DNA:insertion, transversion:5' utr, exon:c.138_139insA, p.K198N (human)		 RGD PMID:10445603 PMID:20707291 RGD:4144868 RGD:4145062 NCBI chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198 		JBrowse link
G EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific ISO CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr22:52,633,932...52,887,812
Ensembl chr22:52,633,274...52,887,838 		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 chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239 		JBrowse link
G EGR1 early growth response 1 ISO associated with Tobacco Use Disorder;mRNA:increased expression:lung (human) RGD PMID:15469929 PMID:20417178 RGD:5131854 RGD:5131878 NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374 		JBrowse link
G ELN elastin ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:16081882 PMID:25106431 RGD:1580326 NCBI chr28:8,999,164...9,048,703 JBrowse link
G EPHX1 epoxide hydrolase 1 no_association
susceptibility		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple (human)
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:polymorphism
DNA:SNP:exon:p.H139R (rs2234922) (human)		 CTD
RGD		 PMID:9288046 PMID:17564249 PMID:18614560 PMID:18811882 PMID:20932192 RGD:1601065 RGD:4889120 RGD:4889121 RGD:4889122 RGD:4889123 NCBI chr25:3,924,396...3,960,264
Ensembl chr25:3,924,606...3,945,535 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression:lung RGD PMID:17908459 RGD:2289953 NCBI chr11:52,020,912...52,043,809
Ensembl chr11:52,021,058...52,044,028 		JBrowse link
G F2RL1 F2R like trypsin receptor 1 ISO RGD PMID:21245013 RGD:4892586 NCBI chr 4:71,095,446...71,109,832
Ensembl chr 4:71,095,500...71,110,005 		JBrowse link
G FAIM2 Fas apoptotic inhibitory molecule 2 ISO RGD PMID:29208459 RGD:13792601 NCBI chr11:46,100,437...46,131,046
Ensembl chr11:46,099,895...46,131,155 		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		 RGD
ClinVar		 PMID:25928290 RGD:11552597 NCBI chr 7:37,086,367...37,458,649
Ensembl chr 7:37,085,592...37,406,913 		JBrowse link
G FASLG Fas ligand ISO RGD PMID:29208459 RGD:13792601 NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:lung RGD PMID:15681497 RGD:5684420 NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967 		JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23099361 NCBI chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725 		JBrowse link
G GC GC vitamin D binding protein ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar PMID:28492532 NCBI chr 7:20,254,604...20,298,384
Ensembl chr 7:20,253,879...20,298,265 		JBrowse link
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 susceptibility ISO DNA:SNP: :rs8099939 RGD PMID:28900078 RGD:401900295 NCBI chr 6:36,199,358...36,273,355
Ensembl chr 6:36,199,349...36,269,591 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B susceptibility ISO DNA:SNP: :rs2268132 RGD PMID:28900078 RGD:401900295 NCBI chr11:13,444,155...13,873,034
Ensembl chr11:13,456,968...13,873,202 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 no_association
susceptibility		 ISO DNA:polymorphism:exon:p.I105V (human)
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to		 RGD
ClinVar		 PMID:17439673 PMID:20467983 PMID:25741868 RGD:4140938 RGD:4142514 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G GZMA granzyme A ISO RGD PMID:20047264 RGD:5135520 NCBI chr 4:51,340,329...51,347,569
Ensembl chr 4:51,340,356...51,348,249 		JBrowse link
G GZMB granzyme B ISO RGD PMID:20540777 RGD:5135516 NCBI chr24:1,574,452...1,577,861
Ensembl chr24:1,574,453...1,577,798 		JBrowse link
G HDAC2 histone deacetylase 2 treatment ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:lung:		 CTD
RGD		 PMID:15337792 PMID:18421014 PMID:22732689 PMID:24940433 RGD:7204496 RGD:9590287 NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742 		JBrowse link
G HDAC8 histone deacetylase 8 severity ISO mRNA:decreased expression:lung (human) RGD PMID:15888697 RGD:13208820 NCBI chr  X:62,154,374...62,393,149
Ensembl chr  X:62,154,365...62,393,196 		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)		 RGD
ClinVar		 PMID:19996190 PMID:25928290 RGD:11552597 RGD:11552598 NCBI chr 7:91,216,874...91,311,392
Ensembl chr 7:91,216,955...91,310,387 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752192 NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288 		JBrowse link
G HMOX1 heme oxygenase 1 treatment
susceptibility
severity		 ISO DNA:polymorphism:promoter
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease | ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset		 RGD
OMIM
ClinVar		 PMID:9884342 PMID:17203192 PMID:17254481 PMID:20705587 PMID:21088618 More... RGD:10755705 RGD:4145371 RGD:4145372 NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971 		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 chr23:35,862,817...35,917,490
Ensembl chr23:35,862,814...35,918,287 		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 chr 3:24,820,029...24,884,472
Ensembl chr 3:24,820,035...24,883,432 		JBrowse link
G HYKK hydroxylysine kinase ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr26:4,802,764...4,836,992
Ensembl chr26:4,808,554...4,836,290 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:airway epithelial cell (human)
protein:decreased expression:airway epithelium (mouse)		 CTD
RGD		 PMID:18794286 PMID:20395558 PMID:29329563 RGD:4145446 RGD:4145522 NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263 		JBrowse link
G IL12B interleukin 12B ISO DNA:polymorphism: : RGD PMID:19279357 RGD:4145423 NCBI chr23:61,714,293...61,731,835 JBrowse link
G IL13 interleukin 13 susceptibility
no_association		 ISO DNA:polymorphisms:intron1,exon4s: rs2066960, rs20541, rs1295685 (human)
DNA:SNP:promoter:c.-1055 C>T (human)
DNA:polymorphism:promoter:c.-1055C>T (human)
DNA:polymorphism: :c. 1103C>T (human)		 RGD PMID:15308043 PMID:15820084 PMID:19796199 PMID:19995275 RGD:4145596 RGD:4145601 RGD:4145668 RGD:4145714 NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869 		JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 ISO DNA:SNP: :rs2250747 (human) RGD PMID:19796199 RGD:4145601
G IL16 interleukin 16 ISO protein:increased expression:lung RGD PMID:20079227 RGD:5024924 NCBI chr26:2,080,985...2,208,764
Ensembl chr26:2,077,228...2,208,431 		JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:respiratory mucosa
protein:increased expression:lung, bronchioalveolar lavage fluid (rat)		 RGD PMID:16200865 PMID:19604272 RGD:4889104 RGD:9068943 NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum
protein:increased expression:sputum, macrophage		 RGD PMID:19208460 PMID:20026745 RGD:4889551 RGD:4889575 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150 		JBrowse link
G IL18BP interleukin 18 binding protein ISO protein:increased expression:serum RGD PMID:20026745 RGD:4889551 NCBI chr 1:63,199,412...63,204,615
Ensembl chr 1:63,200,284...63,203,934 		JBrowse link
G IL1B interleukin 1 beta severity
no_association
susceptibility		 ISO DNA:polymorphisms: :-31T>C, -511C>T (human)
DNA:polymorphisms: :-31T>C, 3953T>C (human)
DNA:polymorphism: :-31T>C (human)
DNA:polymorphisms: :-31T>C, 3954T>C (human)		 RGD PMID:15766560 PMID:17380888 PMID:18364273 PMID:18579366 RGD:4142866 RGD:4142868 RGD:4142873 RGD:4143169 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO mRNA:increased expression:lung: RGD PMID:19927353 PMID:30952808 RGD:40400740 RGD:5144227 NCBI chr14:5,966,551...6,020,391
Ensembl chr14:6,005,061...6,020,265 		JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility
no_association		 ISO DNA:polymorphism:intron (human)
DNA:polymorphism (human)
protein:decreased expression:plasma		 RGD PMID:18364273 PMID:18579366 PMID:19291375 RGD:4142861 RGD:4142866 RGD:4142868 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G IL27 interleukin 27 ISO DNA:polymorphisms: :-964A>G, 2905T>G (human) RGD PMID:18554158 RGD:5128484 NCBI chr 5:26,348,559...26,358,028
Ensembl chr 5:26,348,848...26,356,360 		JBrowse link
G IL33 interleukin 33 ISO mRNA,protein:increased expression:lung: RGD PMID:30952808 RGD:40400740 NCBI chr12:73,235,585...73,283,665
Ensembl chr12:73,237,406...73,252,436 		JBrowse link
G IL5 interleukin 5 ISO protein:increased expression:serum RGD PMID:20858153 RGD:4890939 NCBI chr23:35,360,143...35,375,169
Ensembl chr23:35,360,506...35,362,178 		JBrowse link
G IL5RA interleukin 5 receptor subunit alpha ISO protein:increased expression:serum RGD PMID:15286446 RGD:5128619 NCBI chr22:39,156,711...39,199,394
Ensembl chr22:39,158,023...39,192,861 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma		 CTD
RGD		 PMID:20819268 PMID:28864214 PMID:29329563 PMID:31349846 RGD:4143243 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G IL9 interleukin 9 ISO protein:increased expression:sputum, macrophage, cytoplasm RGD PMID:15303135 RGD:5128691 NCBI chr23:38,641,228...38,645,810
Ensembl chr23:38,641,741...38,645,276 		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 chr20:74,204,481...74,207,835
Ensembl chr20:74,205,542...74,206,546 		JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:lung RGD PMID:15681497 RGD:5684420 NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771 		JBrowse link
G KLF5 KLF transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30639269 NCBI chr 3:52,188,139...52,210,882 JBrowse link
G LCN1 lipocalin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28381600 NCBI chr12:2,639,012...2,648,767
Ensembl chr12:2,640,102...2,648,073 		JBrowse link
G LEP leptin severity ISO protein:decreased expression:serum
protein:increased expression:plasma
DNA:polymorphism:promoter: -2548 G>A (human)		 RGD PMID:20021311 PMID:20854423 PMID:21367591 RGD:5128772 RGD:5128777 RGD:5128778 NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220 		JBrowse link
G LEPR leptin receptor disease_progression ISO DNA:SNPs: :
protein:decreased expression:lung		 RGD PMID:19196818 RGD:5128813 NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229 		JBrowse link
G LOC103217855 C-X-C chemokine receptor type 2 severity ISO RGD PMID:12857718 RGD:5135248 NCBI chr10:104,012,906...104,025,599
Ensembl chr10:104,022,811...104,023,893 		JBrowse link
G LOC103221743 heat shock 70 kDa protein 1A ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr17:40,191,695...40,194,459
Ensembl chr17:40,203,936...40,205,858 		JBrowse link
G LOC103221744 heat shock 70 kDa protein 1-like ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr17:40,206,365...40,211,996
Ensembl chr17:40,209,754...40,211,676 		JBrowse link
G LOC103221745 heat shock 70 kDa protein 1A ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr17:40,203,647...40,206,028
Ensembl chr17:40,203,936...40,205,858 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 susceptibility
resistance		 ISO DNA:deletion: :
associated with Carcinoma, Non-Small-Cell Lung;
mRNA:decreased expression:lung		 RGD PMID:15038404 PMID:16919984 PMID:19664521 RGD:4140939 RGD:4142517 RGD:4142538 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LOC103231892 metalloproteinase inhibitor 1 treatment ISO RGD PMID:25842729 RGD:13207319 NCBI chr  X:44,759,412...44,763,243
Ensembl chr  X:44,760,531...44,765,571 		JBrowse link
G LOC103233451 cytochrome b-245 light chain susceptibility ISO DNA:polymorphisms: :-930A>G, 242C>T (human)
DNA:polymorphism: :p.H72Y (human)		 RGD PMID:19567155 PMID:20080081 RGD:4293707 RGD:4304108 NCBI chr 5:74,023,134...74,030,793
Ensembl chr 5:74,023,082...74,030,750 		JBrowse link
G LOC103243260 corticotropin-releasing factor receptor 1 treatment ISO DNA:SNP:intron: (rs242941) (human) RGD PMID:19210659 RGD:11097322 NCBI chr16:60,070,156...60,120,857
Ensembl chr16:60,070,066...60,120,712 		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 chr10:25,611,400...27,511,903
Ensembl chr10:25,616,590...26,609,111 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 severity ISO RGD PMID:20699612 RGD:5490968 NCBI chr16:11,366,610...11,485,411
Ensembl chr16:11,366,751...11,486,125 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr13:15,284,927...15,360,539
Ensembl chr13:15,284,923...15,360,832 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 severity ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:20699612 PMID:34331613 RGD:155663371 RGD:5490968 NCBI chr 9:43,356,603...43,489,066
Ensembl chr 9:43,356,308...43,393,425 		JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:lung (human)		 RGD PMID:19411612 PMID:20688922 RGD:4889421 RGD:4889448 NCBI chr 9:78,389,534...78,394,753
Ensembl chr 9:78,389,947...78,396,079 		JBrowse link
G MCAM melanoma cell adhesion molecule ISO RGD PMID:23649916 RGD:7364780 NCBI chr 1:110,682,631...110,691,717
Ensembl chr 1:110,684,458...110,691,707 		JBrowse link
G MGST1 microsomal glutathione S-transferase 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr11:16,270,588...16,300,446
Ensembl chr11:16,277,434...16,287,171 		JBrowse link
G MGST3 microsomal glutathione S-transferase 3 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr25:63,227,351...63,252,547
Ensembl chr25:63,224,338...63,252,340 		JBrowse link
G MHC-DPB1 major histocompatibility complex, class II, DP beta 1 ISO RGD PMID:21423603 RGD:5143980 NCBI chr17:38,996,329...39,007,097 JBrowse link
G MIF macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752192 NCBI chr19:7,000,837...7,001,700
Ensembl chr19:7,000,793...7,001,757 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO ClinVar Annotator: match by term: PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset ClinVar PMID:9850057 PMID:11741975 PMID:11875051 PMID:18030675 PMID:25741868 More... NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19661247 NCBI chr29:23,201,425...23,212,408
Ensembl chr29:23,201,112...23,212,679 		JBrowse link
G MMP9 matrix metallopeptidase 9 susceptibility
treatment
severity		 ISO DNA:polymorphism: :-1562C-->T (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
DNA:polymorphism:promoter:-1562C-->T (human)		 RGD
CTD		 PMID:18619044 PMID:19299917 PMID:19411568 PMID:20160424 PMID:25842729 RGD:13207319 RGD:5129494 RGD:5129553 RGD:5130149 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MPO myeloperoxidase severity ISO protein:increased activity:plasma
protein:increased expression:serum		 RGD PMID:10917466 PMID:19491038 RGD:5130993 RGD:5130997 NCBI chr16:35,120,194...35,130,851
Ensembl chr16:35,120,581...35,130,671 		JBrowse link
G MTCL1 microtubule crosslinking factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr18:67,666,982...67,792,792
Ensembl chr18:67,667,690...67,788,981 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:sputum (human) RGD PMID:21474912 RGD:5131160 NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962 		JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming treatment ISO mRNA, protein:increased expression:lung
protein:increased expression:bronchi		 RGD PMID:17637221 PMID:19723147 PMID:22282955 RGD:4145655 RGD:5131190 RGD:7349406 NCBI chr 1:981,515...1,018,242 JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO protein:increased expression:sputum RGD PMID:18776153 RGD:5131169 NCBI chr 1:1,040,756...1,083,246
Ensembl chr 1:1,042,110...1,081,240 		JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms: : RGD PMID:12884528 PMID:17442289 RGD:4892219 RGD:5131863 NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO protein:increased expression:lung
protein:decreased expression:lung		 RGD PMID:18556627 PMID:22737924 RGD:10412732 RGD:5134980 NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 severity ISO DNA:SNP:intron: (rs1077861) (human) RGD PMID:21943069 RGD:5508720 NCBI chr 5:36,492,158...36,531,766
Ensembl chr 5:36,496,414...36,530,499 		JBrowse link
G NOS1 nitric oxide synthase 1 severity ISO mRNA, protein:increased expression:lung
protein:increased expression:skeletal muscle		 RGD PMID:12816735 PMID:19797159 RGD:5132607 RGD:5132628 NCBI chr11:112,642,374...112,673,882 JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:lung
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12797490 PMID:21843929 RGD:4891444 NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21843929 NCBI chr21:119,174,829...119,196,840 JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment
susceptibility		 ISO protein, mRNA:decreased expression:lung
DNA:polymorphisms: :465C>T, 609C>T (human)		 RGD PMID:18556627 PMID:19705749 PMID:28790194 RGD:13439712 RGD:5133267 RGD:5134980 NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO protein:decreased expression:lung, lymphocyte RGD PMID:9926163 PMID:20450542 RGD:4892318 RGD:4892564 NCBI chr23:45,904,926...46,031,804
Ensembl chr23:45,904,873...46,031,125 		JBrowse link
G NTF3 neurotrophin 3 ISO mRNA:decreased expression:bronchus RGD PMID:15843147 RGD:4891120 NCBI chr11:5,477,208...5,542,404 JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression:bronchiolar epithelial cell RGD PMID:21429417 RGD:5684530 NCBI chr20:6,987,903...7,027,381
Ensembl chr20:6,987,905...7,008,670 		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 1:50,050,168...50,254,797
Ensembl chr 1:50,047,477...50,254,807 		JBrowse link
G PLAU plasminogen activator, urokinase severity ISO protein:increased expression:sputum, neutrophil RGD PMID:17651644 PMID:20624254 RGD:6483803 RGD:6484146 NCBI chr 9:57,452,904...57,459,345
Ensembl chr 9:57,452,761...57,459,286 		JBrowse link
G PLAUR plasminogen activator, urokinase receptor ISO protein:increased expression:bronchus RGD PMID:17651644 RGD:6484146 NCBI chr 6:37,161,957...37,191,867 JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:16380766 RGD:8547571 NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:20732852 RGD:6484530 NCBI chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:sputum
DNA:polymorphism: :g.-765G>C (human)		 RGD PMID:15949313 PMID:21655952 RGD:5135277 RGD:5143926 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363678 NCBI chr11:43,954,517...43,979,068
Ensembl chr11:43,957,425...43,978,047 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516 		JBrowse link
G RNASEL ribonuclease L ISO RGD PMID:23913960 RGD:40902622 NCBI chr25:46,779,221...46,795,854
Ensembl chr25:46,779,700...46,795,842 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ameliorates ISO DNA:SNP:cds:rs4809324 (human) RGD PMID:28360516 RGD:152985694 NCBI chr 2:531,905...567,430
Ensembl chr 2:531,085...566,840 		JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 1:11,470,091...11,474,915
Ensembl chr 1:11,470,195...11,474,149 		JBrowse link
G SELP selectin P severity ISO protein:increased expression:plasma RGD PMID:20646456 RGD:6478682 NCBI chr25:59,420,910...59,465,140
Ensembl chr25:59,433,333...59,462,598 		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 ClinVar PMID:301355 PMID:1087161 PMID:1608473 PMID:1889260 PMID:2339709 More... NCBI chr24:72,158,521...72,171,139
Ensembl chr24:72,156,784...72,163,500 		JBrowse link
G SERPINA3 serpin family A member 3 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 chr24:72,388,948...72,415,746
Ensembl chr24:72,402,560...72,415,507 		JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:bronchus RGD PMID:11929177 PMID:17651644 RGD:4144041 RGD:6484146 NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202 		JBrowse link
G SFTPB surfactant protein B susceptibility
severity		 ISO DNA:polymorphism: :1580C>T (human)
DNA:SNPs: :multiple (human)
DNA:SNP: :p.T131I (rs1130866) (human)		 RGD PMID:11589345 PMID:15315329 PMID:15817713 PMID:18550614 RGD:4143290 RGD:4143396 RGD:4143402 RGD:4143423 NCBI chr14:21,487,424...21,497,491
Ensembl chr14:21,488,387...21,499,850 		JBrowse link
G SFTPC surfactant protein C disease_progression ISO DNA:polymorphism: :186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr 8:20,229,756...20,233,568
Ensembl chr 8:20,230,870...20,234,020 		JBrowse link
G SFTPD surfactant protein D severity
susceptibility		 ISO DNA:SNP: :p.A160T (human)
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple (human)		 RGD
CTD		 PMID:18310480 PMID:19797132 PMID:20075511 PMID:20448057 PMID:28166215 RGD:4143281 RGD:4143487 RGD:4143492 RGD:4143501 NCBI chr 9:51,809,241...51,820,974
Ensembl chr 9:51,811,052...51,820,650 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 treatment ISO RGD PMID:32707498 RGD:597538521 NCBI chr23:35,123,442...35,173,254
Ensembl chr23:35,124,433...35,173,264 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 treatment ISO RGD PMID:32707498 RGD:597538521 NCBI chr23:35,197,909...35,224,466
Ensembl chr23:35,197,985...35,223,137 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 susceptibility ISO DNA:SNP: :rs2020936 (human) RGD PMID:20981038 RGD:4889426 NCBI chr16:23,929,196...23,969,665
Ensembl chr16:23,927,311...23,955,616 		JBrowse link
G SLPI secretory leukocyte peptidase inhibitor treatment ISO RGD PMID:18375249 RGD:9999419 NCBI chr 2:18,579,549...18,581,897
Ensembl chr 2:18,579,515...18,582,076 		JBrowse link
G SMAD4 SMAD family member 4 treatment ISO RGD PMID:18375249 RGD:9999419 NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISO protein:increased expression:lung: RGD PMID:20448054 RGD:10041059 NCBI chr 5:58,965,965...59,057,823
Ensembl chr 5:59,029,093...59,059,577 		JBrowse link
G SOD3 superoxide dismutase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.R213G (human)		 CTD
RGD		 PMID:16399992 PMID:16467073 RGD:1581270 NCBI chr27:25,554,474...25,559,873
Ensembl chr27:25,555,082...25,555,804 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO protein:increased expression:lung RGD PMID:24321062 RGD:8661725 NCBI chr10:76,553,626...76,708,540
Ensembl chr10:76,553,606...76,674,928 		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 chr23:42,153,576...42,160,903
Ensembl chr23:42,153,026...42,160,907 		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 chr13:22,234,736...22,312,985
Ensembl chr13:22,234,012...22,282,562 		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 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468 		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)
protein:increased expression:plasma
DNA:SNP:exon:869T>C (human)		 CTD
RGD		 PMID:16365456 PMID:18269849 PMID:19186046 PMID:20193474 PMID:31349846 RGD:4145115 RGD:4145140 RGD:4145292 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:polymorphism:blood cells
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset		 RGD
ClinVar		 PMID:10835634 PMID:12124407 PMID:15547160 PMID:15829498 PMID:16879199 More... RGD:4144119 NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515 		JBrowse link
G TNF tumor necrosis factor disease_progression
no_association		 ISO DNA:polymorphism:promoter
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :c. 489G>A (human)
DNA;polymorphism: :rs361525 (human)
protein:increased expression:serum
protein:increased expression:sputum
DNA:SNP:promoter:c.-308 G>A (human)
DNA:SNPs:promoter		 RGD
CTD		 PMID:8564092 PMID:11179116 PMID:12537602 PMID:15337792 PMID:15820084 More... RGD:4143270 RGD:4143272 RGD:4143273 RGD:4143391 RGD:4143421 RGD:4143424 RGD:4145714
G TNFRSF1A TNF receptor superfamily member 1A severity ISO protein:increased expression:plasma (human) RGD PMID:19643942 RGD:5131203 NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B severity ISO protein:increased expression:sputum (human) RGD PMID:21037022 RGD:5131154 NCBI chr20:119,590,621...119,633,562
Ensembl chr20:119,590,325...119,633,497 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29984229 NCBI chr20:119,656,183...119,736,151
Ensembl chr20:119,657,614...119,715,078 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29984229 NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:18068611 NCBI chr25:28,035,563...28,054,322
Ensembl chr25:28,040,087...28,054,120 		JBrowse link
G TOLLIP toll interacting protein ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 1:1,094,535...1,127,342
Ensembl chr 1:1,094,582...1,125,045 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17274270 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245013 NCBI chr11:105,020,972...105,072,660 JBrowse link
G VDR vitamin D receptor ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684 		JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO protein:increased expression:lung RGD PMID:15681497 PMID:20705587 RGD:10755705 RGD:5684420 NCBI chr17:28,377,959...28,394,508 JBrowse link
G XRCC5 X-ray repair cross complementing 5 susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:20463177 RGD:8698653 NCBI chr10:101,952,909...102,051,059
Ensembl chr10:101,953,067...102,049,964 		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 chr16:27,792,699...27,796,437
Ensembl chr16:27,794,033...27,796,460 		JBrowse link
G CFTR CF transmembrane conductance regulator susceptibility ISO associated with pulmonary disease chronic obstructive; DNA:missense mutation:exon:p.R75Q(human)
DNA:deletion: :F508del(human)		 RGD PMID:10767489 PMID:15463907 RGD:4140475 RGD:4140484 NCBI chr21:86,154,313...86,332,436 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNPs: :multiple (human) RGD PMID:19386687 RGD:4891509 NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility ISO DNA:polymorphism (human) RGD PMID:15928955 RGD:4142512 NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO DNA:polymorphism (human) RGD PMID:14593914 RGD:4889126 NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211 		JBrowse link
G EDN1 endothelin 1 ISO Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse) RGD PMID:18631350 RGD:4145074 NCBI chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198 		JBrowse link
G GC GC vitamin D binding protein susceptibility ISO RGD PMID:12096683 RGD:5129516 NCBI chr 7:20,254,604...20,298,384
Ensembl chr 7:20,253,879...20,298,265 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:bronchial epithelium (rat) RGD PMID:19507274 RGD:2308951 NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263 		JBrowse link
G IL10 interleukin 10 ISO protein:decreased expression:lung RGD PMID:19507274 RGD:2308951 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:Respiratory Mucosa RGD PMID:14582911 RGD:4759835 NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869 		JBrowse link
G IL15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 7:88,548,773...88,644,977
Ensembl chr 7:88,548,671...88,645,488 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 severity ISO DNA:deletion: :
DNA:deletion, haplotype: : (human)		 RGD PMID:9187680 PMID:15125256 RGD:12798508 RGD:4142513 NCBI chr20:23,854,969...23,861,634 JBrowse link
G MPO myeloperoxidase ISO protein:increased expression:lung RGD PMID:11798689 RGD:5130990 NCBI chr16:35,120,194...35,130,851
Ensembl chr16:35,120,581...35,130,671 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:19938219 RGD:4891494 NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257 		JBrowse link
G NPY neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:9731035 NCBI chr21:34,068,533...34,076,205
Ensembl chr21:34,068,530...34,075,127 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19263519 NCBI chr17:28,377,959...28,394,508 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 chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30659203 NCBI chr17:39,847,343...39,851,288
Ensembl chr17:39,847,759...39,851,127 		JBrowse link
G ALB albumin ISO RGD PMID:24365562 RGD:11035274 NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO OMIM:130700 MouseDO NCBI chr26:37,605,891...37,622,302
Ensembl chr26:37,604,412...37,622,083 		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 chr16:27,792,699...27,796,437
Ensembl chr16:27,794,033...27,796,460 		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 chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416 		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:15526056 PMID:16284650 PMID:17883726 RGD:4892090 RGD:4892098 RGD:4892104 NCBI chr22:7,803,794...7,818,112 JBrowse link
G CHI3L1 chitinase 3 like 1 ISO RGD PMID:20656949 RGD:4892658 NCBI chr25:26,160,993...26,169,005
Ensembl chr25:26,160,961...26,169,566 		JBrowse link
G CLPTM1L CLPTM1 like severity ISO associated with smoking; DNA:SNP:intron:rs31489(human) RGD PMID:21622582 RGD:150530642 NCBI chr 4:1,140,272...1,162,663
Ensembl chr 4:1,140,132...1,162,898 		JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:19537526 RGD:11039438 NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172 		JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr 7:22,327,041...22,329,405
Ensembl chr 7:22,569,355...22,569,900
Ensembl chr 7:22,569,355...22,569,900 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130 		JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr 7:22,291,949...22,294,191
Ensembl chr 7:22,292,045...22,294,207 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr 7:24,507,121...24,513,830
Ensembl chr 7:24,507,130...24,513,121 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15526056 RGD:4892104 NCBI chr  X:61,430,723...61,433,777
Ensembl chr  X:61,430,725...61,433,386 		JBrowse link
G DEFB1 defensin beta 1 ISO mRNA:decreased expression:lung RGD PMID:18699806 RGD:4892249 NCBI chr 8:6,643,753...6,652,209
Ensembl chr 8:6,643,556...6,651,699 		JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:19897563 RGD:4892307 NCBI chr 7:93,980,983...94,043,863
Ensembl chr 7:93,985,797...94,042,296 		JBrowse link
G EGR1 early growth response 1 resistance ISO associated with Tobacco Use Disorder;protein:increased expression:lung, epithelial cell (mouse)
mRNA, protein:increased expression:lung (human)		 RGD PMID:11021835 PMID:16601242 PMID:18830406 RGD:5131853 RGD:5131892 RGD:5131973 NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374 		JBrowse link
G ELANE elastase, neutrophil expressed ISO RGD PMID:12186827 RGD:10450557 NCBI chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725 		JBrowse link
G ELN elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr28:8,999,164...9,048,703 JBrowse link
G EPHX1 epoxide hydrolase 1 susceptibility
no_association		 ISO DNA:SNP:exon:p.Y113H (rs1051740) (human)
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
CTD Direct Evidence: marker/mechanism
associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human)		 RGD
CTD		 PMID:9288046 PMID:10853854 PMID:12579334 PMID:20525719 RGD:1601065 RGD:4140935 RGD:4889405 RGD:4889406 NCBI chr25:3,924,396...3,960,264
Ensembl chr25:3,924,606...3,945,535 		JBrowse link
G FGA fibrinogen alpha chain ISO protein:increased expression:plasma (rat) RGD PMID:20949089 RGD:11040553 NCBI chr 7:101,127,554...101,134,881
Ensembl chr 7:101,125,791...101,134,405 		JBrowse link
G FSTL1 follistatin like 1 ISO OMIM:130700 MouseDO NCBI chr22:60,371,309...60,427,259
Ensembl chr22:60,371,554...60,428,764 		JBrowse link
G FUT8 fucosyltransferase 8 ISO OMIM:130700 MouseDO NCBI chr24:42,627,340...42,965,505
Ensembl chr24:42,788,132...42,968,124 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO RGD PMID:19879314 RGD:5134681 NCBI chr17:19,012,994...19,060,617
Ensembl chr17:19,013,026...19,060,659 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 ISO RGD PMID:19723343 RGD:5135041 NCBI chr20:23,797,794...23,802,910
Ensembl chr20:23,799,177...23,802,921 		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 1:6,676,897...6,679,936 JBrowse link
G HDAC2 histone deacetylase 2 treatment ISO mRNA,proetin:increased expression,increased activity,hyperphosphorylation,hypercarbonylation:lung: RGD PMID:23326540 PMID:24040961 RGD:9590245 RGD:9590320 NCBI chr13:59,873,248...59,904,542
Ensembl chr13:59,873,767...59,905,742 		JBrowse link
G HHIP hedgehog interacting protein ISO DNA:haplotype insufficiency: : RGD PMID:25763110 RGD:11552596 NCBI chr 7:91,216,874...91,311,392
Ensembl chr 7:91,216,955...91,310,387 		JBrowse link
G HMOX1 heme oxygenase 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats)		 CTD
RGD		 PMID:10631150 RGD:1601606 NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971 		JBrowse link
G IL13 interleukin 13 ISO RGD PMID:11067861 RGD:4145652 NCBI chr23:35,475,762...35,479,419
Ensembl chr23:35,476,490...35,478,869 		JBrowse link
G IL18 interleukin 18 ISO mRNA, protein:increased expression:respiratory system fluid/secretion, macrophage RGD PMID:17400729 PMID:23392573 RGD:4889590 RGD:8655969 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 treatment ISO associated with common cold; RGD PMID:30952808 RGD:40400740 NCBI chr14:5,966,551...6,020,391
Ensembl chr14:6,005,061...6,020,265 		JBrowse link
G ITGB6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism
OMIM:130700		 CTD
MouseDO
RGD		 PMID:12634787 RGD:737734 NCBI chr10:45,506,355...45,650,979
Ensembl chr10:45,504,987...45,595,543 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO OMIM:130700 MouseDO NCBI chr20:74,204,481...74,207,835
Ensembl chr20:74,205,542...74,206,546 		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 6:9,515,789...9,526,699
Ensembl chr 6:9,515,416...9,522,797 		JBrowse link
G KL klotho ISO OMIM:130700 MouseDO NCBI chr 3:11,755,015...11,799,537
Ensembl chr 3:11,755,016...11,797,596 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 susceptibility ISO DNA:deletion: : RGD PMID:20495862 RGD:4140927 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LOC103233058 fractalkine ISO RGD PMID:18772344 RGD:4891888 NCBI chr 5:43,310,711...43,323,533
Ensembl chr 5:43,310,753...43,323,529 		JBrowse link
G LOX lysyl oxidase ISO ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr23:25,158,458...25,172,763
Ensembl chr23:25,157,269...25,172,757 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:17363767 RGD:4890375 NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12634787 PMID:25106431 NCBI chr 1:94,243,061...94,261,035
Ensembl chr 1:94,243,875...94,259,591 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased activity:lung
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19897563 PMID:25106431 RGD:4892307 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO CTD Direct Evidence: marker/mechanism
protein:increased activity:lung		 CTD
RGD		 PMID:14605041 PMID:18408070 PMID:19897563 PMID:25106431 RGD:4892307 RGD:5130151 RGD:8547887 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISO OMIM:130700 MouseDO NCBI chr 1:8,410,571...8,411,793 JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO protein:decreased expression:lung: RGD PMID:18559366 RGD:5134973 NCBI chr10:62,789,647...62,825,651
Ensembl chr10:62,790,124...62,825,339 		JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO RGD PMID:20472710 RGD:4891488 NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA,protein:increased expression:lung RGD PMID:20472710 PMID:20956973 PMID:22000010 RGD:4891415 RGD:4891488 RGD:5509103 NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA,protein:increased expression:lung RGD PMID:20956973 RGD:4891415 NCBI chr21:119,174,829...119,196,840 JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO mRNA:decreased expression:lung RGD PMID:18559366 RGD:5134973 NCBI chr 5:57,676,547...57,695,434
Ensembl chr 5:57,675,981...57,716,599 		JBrowse link
G PGF placental growth factor ISO mRNA, protein:increased expression:lung, plasma RGD PMID:17023518 RGD:5135245 NCBI chr24:52,160,904...52,174,493
Ensembl chr24:52,161,787...52,173,989 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23144332 RGD:7242020 NCBI chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:20472710 RGD:4891488 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G PTMA prothymosin alpha ISO OMIM:130700 MouseDO NCBI chr10:117,721,097...117,722,065 JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27982104 NCBI chr 5:21,021,181...21,107,746
Ensembl chr 5:21,022,133...21,107,824 		JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:3485249 PMID:19941265 PMID:21030517 RGD:4892125 RGD:4892126 NCBI chr24:72,158,521...72,171,139
Ensembl chr24:72,156,784...72,163,500 		JBrowse link
G SFTPC surfactant protein C susceptibility ISO DNA:polymorphism: :138A>C, 186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr 8:20,229,756...20,233,568
Ensembl chr 8:20,230,870...20,234,020 		JBrowse link
G SMO smoothened, frizzled class receptor ISO OMIM:130700 MouseDO NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709 		JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISO protein:increased expression:lung: RGD PMID:20448054 RGD:10041059 NCBI chr 5:58,965,965...59,057,823
Ensembl chr 5:59,029,093...59,059,577 		JBrowse link
G SRFBP1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr23:25,063,926...25,124,601
Ensembl chr23:25,063,910...25,126,523 		JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:19445658 RGD:5147818 NCBI chr14:32,080,319...32,236,556
Ensembl chr14:32,083,615...32,233,596 		JBrowse link
G TGFB1 transforming growth factor beta 1 severity ISO CTD Direct Evidence: therapeutic
associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs:promoter:rs1800469, rs1982073 (human)		 CTD
RGD		 PMID:12634787 PMID:18670143 RGD:4145272 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression:alveolar macrophage RGD PMID:18399852 RGD:4145342 NCBI chr 7:100,239,533...100,565,955
Ensembl chr 7:100,258,441...100,260,795 		JBrowse link
G TLR4 toll like receptor 4 ISO OMIM:130700 RGD
MouseDO		 PMID:17053835 RGD:4144170 NCBI chr12:21,873,762...21,885,562
Ensembl chr12:21,871,773...21,885,515 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25106431
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    disease of anatomical entity 15080
      respiratory system disease 4786
        lower respiratory tract disease 2153
          lung disease 2113
            obstructive lung disease 456
              chronic obstructive pulmonary disease 231
                Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome 0
                Chronic Bronchitis 16
                Mucus Inspissation of Respiratory Tract 0
                pulmonary emphysema + 65
paths to the root