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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:chronic obstructive pulmonary disease
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Accession:DOID:3083 term browser browse the term
Definition:An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both. (DO)
Synonyms:exact_synonym: COAD;   COLD;   COPD;   Chronic Airflow Obstruction;   Chronic Airflow Obstructions;   Chronic Obstructive Airway Disease;   Chronic Obstructive Lung Disease
 narrow_synonym: CHRONIC OBSTRUCTIVE PULMONARY DISEASE, BIOMASS RELATED;   COPD, severe early-onset;   Chronic Obstructive Pulmonary Disease, Severe Early-Onset;   PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN
 related_synonym: ANTICHYMOTRYPSIN BONN 1;   HMOX1-RELATED CONDITION;   chronic obstructive pulmonary disease, susceptibility to
 primary_id: MESH:C564641;   MESH:D029424
 alt_id: DOID:9005540;   MIM:606963
 xref: EFO:0000341;   ICD10CM:J44.9;   NCI:C3199
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
chronic obstructive pulmonary disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) severity IEP
IAGP		 mRNA:decreased expression:respiratory epithelial cell
DNA:SNPs: :rs212093, rs4148382 (human)		 RGD PMID:12930913 PMID:20487524 RGD:5128827, RGD:5128824 NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257 		JBrowse link
G ACE angiotensin I converting enzyme susceptibility
disease_progression		 IAGP
IMP		 DNA:polymorphism (human) RGD PMID:20156752 PMID:20096799 PMID:19493329 RGD:4140480, RGD:4140487, RGD:4140912 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ADAM33 ADAM metallopeptidase domain 33 no_association
susceptibility		 IAGP DNA:polymorphisms (human)
DNA:polymorphisms: :multiple (human)		 RGD PMID:20156753 PMID:20003279 PMID:19284602 RGD:4145358, RGD:4145357, RGD:4145361 NCBI chr20:3,667,975...3,682,010
Ensembl chr20:3,667,965...3,682,246 		JBrowse link
G ADAM9 ADAM metallopeptidase domain 9 IEP protein:increased expression:pulmonary artery RGD PMID:36522710 RGD:401850545 NCBI chr 8:38,996,973...39,105,261
Ensembl chr 8:38,996,754...39,105,445 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing disease_progression IEP associated with Metabolic Syndrome X;protein:decreased expression:serum RGD PMID:22207678 PMID:21179920 RGD:5686379, RGD:5686825 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ADORA2A adenosine A2a receptor ISO RGD PMID:16339780 RGD:4890385 NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357 		JBrowse link
G ADRB1 adrenoceptor beta 1 IMP
IAGP		 ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar
RGD		 PMID:10212248 PMID:12374873 PMID:16844790 PMID:17496726 PMID:11527135 RGD:5129114 NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904 		JBrowse link
G ADRB2 adrenoceptor beta 2 disease_progression
severity
no_association		 IMP
IEP
IAGP
IDA		 protein:decreased expression:blood, sputum, mononuclear cell
DNA:SNP: :p.R16G (human)
DNA:SNPs: :p.R16G, p.Q27E (human)
DNA:polymorphism: :p.Q27E (human)
DNA:SNPs: :rs1042717, rs1042718 (human)		 RGD PMID:11527135 PMID:19080468 PMID:18789663 PMID:20211002 PMID:19747908 More... RGD:5129114, RGD:4145086, RGD:4145093, RGD:4144899, RGD:4145080, RGD:4145095, RGD:4145082, RGD:4140935 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623 		JBrowse link
G AGER advanced glycosylation end-product specific receptor IEP
IAGP		 ClinVar Annotator: match by term: COPD, severe early onset ClinVar
RGD		 PMID:20133931 RGD:6767312 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G ANG angiogenin IEP protein:increased expression:sputum RGD PMID:21916917 RGD:6892708 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G BAMBI BMP and activin membrane bound inhibitor IEP mRNA:increased expression:CD4+ T : RGD PMID:27549738 RGD:14390164 NCBI chr10:28,677,521...28,682,932
Ensembl chr10:28,677,510...28,682,932 		JBrowse link
G BCL2L1 BCL2 like 1 IEP mRNA:increased expression:peripheral blood, neutrophil (human) RGD PMID:22686245 RGD:11353864 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989 		JBrowse link
G BDKRB2 bradykinin receptor B2 IAGP RGD PMID:16600946 RGD:4890451 NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166 		JBrowse link
G BMAL2 basic helix-loop-helix ARNT like 2 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr12:27,332,836...27,425,286
Ensembl chr12:27,332,836...27,425,289 		JBrowse link
G BNIP3 BCL2 interacting protein 3 treatment ISO RGD PMID:25888379 RGD:11561985 NCBI chr10:131,967,684...131,981,923
Ensembl chr10:131,967,684...131,981,967 		JBrowse link
G C3 complement C3 IEP protein:increased expression:lung RGD PMID:17975205 RGD:5129504 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G C5 complement C5 severity IEP protein:increased expression:sputum RGD PMID:20500690 RGD:5129705 NCBI chr 9:120,952,335...121,074,865
Ensembl chr 9:120,932,987...121,075,195 		JBrowse link
G C5AR1 complement C5a receptor 1 IEP protein:increased expression:lung, mast cell RGD PMID:19926870 RGD:5130165 NCBI chr19:47,307,477...47,322,066
Ensembl chr19:47,290,023...47,322,066 		JBrowse link
G CASP12 caspase 12 (gene/pseudogene) treatment ISO RGD PMID:24694971 RGD:13782182 NCBI chr11:104,883,286...104,898,460
Ensembl chr11:104,885,718...104,898,670 		JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:28496315 RGD:13782303 NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062 		JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:28496315 RGD:13782303 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836 		JBrowse link
G CAT catalase IEP RGD PMID:20080081 RGD:4293707 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CCL1 C-C motif chemokine ligand 1 severity IAGP DNA:SNP:enhancer:rs2282691 (human) RGD PMID:16864713 RGD:4891410 NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233 		JBrowse link
G CCL11 C-C motif chemokine ligand 11 severity IEP RGD PMID:19925666 RGD:4145389 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334 		JBrowse link
G CCL17 C-C motif chemokine ligand 17 IEP mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion RGD PMID:18684970 RGD:4145489 NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 IEP
EXP		 protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:34652871 PMID:20497022 RGD:4891429 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCL22 C-C motif chemokine ligand 22 IEP mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion RGD PMID:18684970 RGD:4145489 NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189 		JBrowse link
G CCL4 C-C motif chemokine ligand 4 IEP RGD PMID:17868461 PMID:11475557 RGD:5130900, RGD:5130901 NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 IEP mRNA, protein:increased expression:lung, bronchial epithelium, submucosa (human) RGD PMID:19703829 RGD:4891477 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793 		JBrowse link
G CCL7 C-C motif chemokine ligand 7 IEP mRNA,protein:increased expression:macrophage RGD PMID:21327296 RGD:6483765 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242 		JBrowse link
G CCL8 C-C motif chemokine ligand 8 IEP RGD PMID:20970515 RGD:5131087 NCBI chr17:34,319,435...34,321,402
Ensembl chr17:34,319,435...34,321,402 		JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA, protein:increased expression:lung (rat) RGD PMID:19659652 RGD:2314483 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCR3 C-C motif chemokine receptor 3 IEP protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 IEP protein:increased expression:blood (human) RGD PMID:19229703 RGD:4892070 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CD28 CD28 molecule IEP CD28 null allele is increased in COPD RGD PMID:18057064 PMID:19220836 RGD:5131620, RGD:5131618 NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756 		JBrowse link
G CD40 CD40 molecule severity IEP RGD PMID:20699612 RGD:5490968 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD80 CD80 molecule IEP RGD PMID:19729666 RGD:4892292 NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614 		JBrowse link
G CD86 CD86 molecule susceptibility
severity		 IAGP
IEP		 DNA:polymorphism:cds:g.1057G>A rs1129055 (human)
protein:increased expression:lung, myeloid dendritic cell (human)		 RGD PMID:20732370 PMID:19729666 RGD:4891504, RGD:4892292 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139 		JBrowse link
G CD8A CD8 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:17950725 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:35303175 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:35303175 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CFTR CF transmembrane conductance regulator disease_progression IAGP DNA:polymorphism:cds:p.M470V(human) RGD PMID:18652532 RGD:4140431 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CHI3L1 chitinase 3 like 1 IEP protein:increased secretion:serum (human) RGD PMID:20656949 RGD:4892658 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704 		JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IMP RGD PMID:19281093 RGD:5133441 NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452 		JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit susceptibility
disease_progression		 IAGP 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 chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295 		JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit susceptibility IAGP 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 chr15:78,565,520...78,595,269
Ensembl chr15:78,565,520...78,595,269 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit disease_progression IAGP DNA:CNV:: CNV-3956(human) RGD PMID:25407004 RGD:11074492 NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018 		JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit IAGP ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr15:78,624,111...78,661,641
Ensembl chr15:78,624,111...78,727,754 		JBrowse link
G CLCA1 chloride channel accessory 1 severity IEP
IAGP		 mRNA:increased expression:bronchus
DNA:SNPs: :multiple (human)		 RGD PMID:17637221 PMID:14985398 RGD:4145655, RGD:1331524 NCBI chr 1:86,468,927...86,500,259
Ensembl chr 1:86,468,368...86,500,259 		JBrowse link
G CMA1 chymase 1 IEP protein:increased expression:respiratory tract epithelium, mast cell (human) RGD PMID:18783610 RGD:5128552 NCBI chr14:24,505,353...24,508,265
Ensembl chr14:24,505,353...24,508,265 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IEP RGD PMID:15469929 RGD:5131854 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 treatment IAGP DNA:SNP:intron: (rs242941) (human) RGD PMID:19210659 RGD:11097322 NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828 		JBrowse link
G CRP C-reactive protein severity IEP
EXP		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum 		CTD
RGD		 PMID:29329563 PMID:21468168 PMID:21506665 RGD:5131279, RGD:5131278 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CSF2 colony stimulating factor 2 IEP protein:increased expression:sputum RGD PMID:19213775 RGD:5131476 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility IEP
IAGP		 DNA:SNP: :-318C>T (rs5742909) (human) RGD PMID:21129004 PMID:20732370 RGD:4891499, RGD:4891504 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 IEP
EXP		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23099361 PMID:20858153 RGD:4890939 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IEP protein:increased expression:sputum RGD PMID:17925429 RGD:5135436 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497 		JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 IEP protein:increased expression:sputum RGD PMID:17925429 RGD:5135436 NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415 		JBrowse link
G CXCL2 C-X-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23099361 NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196 		JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 severity IEP RGD PMID:12857718 RGD:5135248 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677 		JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15337792 PMID:23099361 PMID:28864214 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 IEP protein:increased expression:sputum RGD PMID:19229703 PMID:17925429 RGD:4892070, RGD:5135436 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 severity IEP RGD PMID:12857718 RGD:5135248 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 disease_progression IEP protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19218194 PMID:19017998 RGD:5135435, RGD:4145632 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511 		JBrowse link
G CYBA cytochrome b-245 alpha chain susceptibility IAGP DNA:polymorphism: :p.H72Y (human)
DNA:polymorphisms: :-930A>G, 242C>T (human)		 RGD PMID:19567155 PMID:20080081 RGD:4304108, RGD:4293707 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility
no_association
severity		 IAGP
EXP		 DNA:polymorphisms: :p.I462V, 3801T>C (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :2455A>G, 3801T>C (human)
DNA:polymorphism (human)		 CTD
RGD		 PMID:19022366 PMID:20080081 PMID:18389617 PMID:19507017 RGD:4293707, RGD:4892071, RGD:4892045 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 susceptibility IAGP
EXP		 DNA:polymorphisms: :-3860G>A (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20797314 PMID:20080081 RGD:4293707 NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607 		JBrowse link
G CYP2C8 cytochrome P450 family 2 subfamily C member 8 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr10:95,036,772...95,069,497
Ensembl chr10:95,036,772...95,069,497 		JBrowse link
G CYP2C9 cytochrome P450 family 2 subfamily C member 9 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr10:94,938,658...94,990,091
Ensembl chr10:94,938,658...94,990,091 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 IAGP DNA:polymorphisms: :-1293G>C, 7632T>A, 9893C>G (human) RGD PMID:17442289 RGD:4892219 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220 		JBrowse link
G CYP2J2 cytochrome P450 family 2 subfamily J member 2 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 1:59,893,308...59,969,212
Ensembl chr 1:59,893,308...59,926,773 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
G CYP46A1 cytochrome P450 family 46 subfamily A member 1 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr14:99,684,298...99,727,301
Ensembl chr14:99,684,298...99,727,301 		JBrowse link
G CYP4A22 cytochrome P450 family 4 subfamily A member 22 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 1:47,137,441...47,149,727
Ensembl chr 1:47,137,435...47,149,727 		JBrowse link
G CYP4A22-AS1 CYP4A22 antisense RNA 1 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 1:47,095,540...47,179,623
Ensembl chr 1:47,096,653...47,179,271
Ensembl chr 1:47,096,653...47,179,271 		JBrowse link
G CYP4B1 cytochrome P450 family 4 subfamily B member 1 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 1:46,799,046...46,819,413
Ensembl chr 1:46,757,838...46,819,413 		JBrowse link
G CYP4Z1 cytochrome P450 family 4 subfamily Z member 1 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 1:47,055,525...47,118,318
Ensembl chr 1:47,067,231...47,118,318 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 treatment ISO RGD PMID:24694971 RGD:13782182 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737 		JBrowse link
G DEFB1 defensin beta 1 no_association
susceptibility		 IAGP DNA:SNPs: :multiple (human)
DNA:polymorphism (human)
DNA:polymorphism: :668C>G (human)		 RGD PMID:16700921 PMID:11829455 PMID:15569478 RGD:4892251, RGD:1331523, RGD:4892257 NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936 		JBrowse link
G DSP desmoplakin EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease		 CTD
ClinVar		 PMID:28166215 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G EDN1 endothelin 1 IAGP
IEP		 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 chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific EXP CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr 3:128,153,481...128,426,223
Ensembl chr 3:128,153,481...128,408,646 		JBrowse link
G EGFR epidermal growth factor receptor IEP
ISO		 protein:increased expression:bronchial epithelium (human) RGD PMID:16393673 PMID:22732689 RGD:5131627, RGD:7204496 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G EGR1 early growth response 1 ISO
IEP		 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 chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303 		JBrowse link
G ELN elastin IAGP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:25106431 PMID:16081882 RGD:1580326 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EPHX1 epoxide hydrolase 1 no_association
susceptibility		 IAGP
EXP		 DNA:SNP:exon:p.H139R (rs2234922) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:SNPs: :multiple (human)
DNA:polymorphism		 CTD
RGD		 PMID:9288046 PMID:20932192 PMID:17564249 PMID:18811882 PMID:18614560 More... RGD:4889120, RGD:4889123, RGD:4889121, RGD:4889122, RGD:1601065 NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression:lung RGD PMID:17908459 RGD:2289953 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G F2 coagulation factor II, thrombin severity IEP RGD PMID:21660493 RGD:5147752 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F2RL1 F2R like trypsin receptor 1 IMP RGD PMID:21245013 RGD:4892586 NCBI chr 5:76,819,030...76,835,315
Ensembl chr 5:76,818,933...76,835,315 		JBrowse link
G FAIM2 Fas apoptotic inhibitory molecule 2 ISO RGD PMID:29208459 RGD:13792601 NCBI chr12:49,866,896...49,903,900
Ensembl chr12:49,866,896...49,904,217 		JBrowse link
G FAM13A family with sequence similarity 13 member A susceptibility IAGP
EXP		 DNA:SNP: :rs7671167 (human)
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:20173748 PMID:28166215 PMID:25928290 RGD:11552597 NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398 		JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:29208459 RGD:13792601 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand ISO RGD PMID:29208459 RGD:13792601 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP protein:increased expression:lung RGD PMID:15681497 RGD:5684420 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G FOXO3 forkhead box O3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23099361 NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774 		JBrowse link
G GC GC vitamin D binding protein IEA
IAGP		 ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar
RGD		 PMID:28492532 PMID:15118671 PMID:9517617 RGD:1331525, RGD:5509932 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041 		JBrowse link
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 susceptibility IAGP DNA:SNP: :rs8099939 RGD PMID:28900078 RGD:401900295 NCBI chr19:41,998,324...42,070,206
Ensembl chr19:41,998,321...42,070,206 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B susceptibility IAGP DNA:SNP: :rs2268132 RGD PMID:28900078 RGD:401900295 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility
resistance		 IAGP
IEP		 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 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility
no_association		 IEP
IAGP		 mRNA:decreased expression:lung
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
DNA:polymorphism:exon:p.I105V (human)
DNA:SNPs: :p.I105V, p.A114V (human)		 ClinVar
RGD		 PMID:25741868 PMID:16919984 PMID:20467983 PMID:17532303 PMID:17439673 RGD:4142517, RGD:4140938, RGD:4142511, RGD:4142514 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP associated with GSTM1 null mutation; DNA:deletion: : RGD PMID:19664521 PMID:20402821 RGD:4140939, RGD:4140928
G GZMA granzyme A IEP RGD PMID:20047264 RGD:5135520 NCBI chr 5:55,102,646...55,110,252
Ensembl chr 5:55,102,646...55,110,252 		JBrowse link
G GZMB granzyme B IEP RGD PMID:20540777 RGD:5135516 NCBI chr14:24,630,954...24,634,190
Ensembl chr14:24,630,954...24,634,267 		JBrowse link
G HDAC2 histone deacetylase 2 treatment ISO
EXP		 protein:decreased expression:lung:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15337792 PMID:18421014 PMID:22732689 PMID:24940433 RGD:7204496, RGD:9590287 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308 		JBrowse link
G HDAC8 histone deacetylase 8 severity IEP mRNA:decreased expression:lung (human) RGD PMID:15888697 RGD:13208820 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HHIP hedgehog interacting protein susceptibility IAGP 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 4:144,646,156...144,745,271
Ensembl chr 4:144,646,156...144,745,271 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:26752192 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP RGD PMID:21423603 RGD:5143980 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HMOX1 heme oxygenase 1 susceptibility
treatment
severity		 IAGP
EXP
ISO		 DNA:polymorphism:promoter
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset		 OMIM
ClinVar
CTD
RGD		 PMID:9884342 PMID:21088618 PMID:25741868 PMID:28492532 PMID:17203192 More... RGD:4145372, RGD:10755705, RGD:4145371 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G HP haptoglobin IEP RGD PMID:21471098 RGD:5144151 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A IAGP ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946 		JBrowse link
G HSPA1B heat shock protein family A (Hsp70) member 1B IAGP ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254 		JBrowse link
G HSPA1L heat shock protein family A (Hsp70) member 1 like IAGP ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 6:31,809,619...31,815,283
Ensembl chr 6:31,809,619...31,815,283 		JBrowse link
G HSPA4 heat shock protein family A (Hsp70) member 4 no_association IEP protein:increased expression:serum (human)
protein:increased expression:bronchial mucosa (human)		 RGD PMID:19350847 PMID:22140545 RGD:5688779, RGD:5688781 NCBI chr 5:133,052,013...133,106,449
Ensembl chr 5:133,052,013...133,106,449 		JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A susceptibility EXP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs6313		 CTD
RGD		 PMID:22048642 PMID:28900078 RGD:401900295 NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076 		JBrowse link
G HYKK hydroxylysine kinase IAGP ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr15:78,507,577...78,537,373
Ensembl chr15:78,507,564...78,537,372 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP
EXP
ISO		 mRNA:increased expression:airway epithelial cell (human)
CTD Direct Evidence: marker/mechanism
protein:decreased expression:airway epithelium (mouse)		 CTD
RGD		 PMID:29329563 PMID:20395558 PMID:18794286 RGD:4145446, RGD:4145522 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IL12B interleukin 12B IAGP DNA:polymorphism: : RGD PMID:19279357 RGD:4145423 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863 		JBrowse link
G IL13 interleukin 13 no_association
susceptibility		 IAGP DNA:SNP:promoter:c.-1055 C>T (human)
DNA:polymorphism:promoter:c.-1055C>T (human)
DNA:polymorphisms:intron1,exon4s: rs2066960, rs20541, rs1295685 (human)
DNA:polymorphism: :c. 1103C>T (human)		 RGD PMID:15820084 PMID:19995275 PMID:19796199 PMID:15308043 RGD:4145714, RGD:4145596, RGD:4145601, RGD:4145668 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 IAGP DNA:SNP: :rs2250747 (human) RGD PMID:19796199 RGD:4145601 NCBI chr  X:118,727,606...118,805,228
Ensembl chr  X:118,727,133...118,794,535 		JBrowse link
G IL16 interleukin 16 IEP protein:increased expression:lung RGD PMID:20079227 RGD:5024924 NCBI chr15:81,182,712...81,314,058
Ensembl chr15:81,159,575...81,314,058 		JBrowse link
G IL17A interleukin 17A IEP
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 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G IL18 interleukin 18 IEP protein:increased expression:serum
protein:increased expression:sputum, macrophage		 RGD PMID:20026745 PMID:19208460 RGD:4889551, RGD:4889575 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G IL18BP interleukin 18 binding protein IEP protein:increased expression:serum RGD PMID:20026745 RGD:4889551 NCBI chr11:71,998,909...72,008,200
Ensembl chr11:71,998,613...72,007,315 		JBrowse link
G IL1B interleukin 1 beta no_association
susceptibility
severity		 IAGP 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 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 IEP
ISO		 mRNA:increased expression:lung: RGD PMID:19927353 PMID:30952808 RGD:5144227, RGD:40400740 NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037 		JBrowse link
G IL1RN interleukin 1 receptor antagonist no_association
susceptibility		 IAGP
IEP		 DNA:polymorphism (human)
DNA:polymorphism:intron (human)
protein:decreased expression:plasma		 RGD PMID:18364273 PMID:18579366 PMID:19291375 RGD:4142868, RGD:4142866, RGD:4142861 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL27 interleukin 27 IAGP DNA:polymorphisms: :-964A>G, 2905T>G (human) RGD PMID:18554158 RGD:5128484 NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051 		JBrowse link
G IL33 interleukin 33 ISO mRNA,protein:increased expression:lung: RGD PMID:30952808 RGD:40400740 NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983 		JBrowse link
G IL5 interleukin 5 IEP protein:increased expression:serum RGD PMID:20858153 RGD:4890939 NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838 		JBrowse link
G IL5RA interleukin 5 receptor subunit alpha IEP protein:increased expression:serum RGD PMID:15286446 RGD:5128619 NCBI chr 3:3,066,324...3,110,374
Ensembl chr 3:3,066,324...3,126,613 		JBrowse link
G IL6 interleukin 6 IEP
EXP		 protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:28864214 PMID:29329563 PMID:31349846 PMID:20819268 RGD:4143243 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL9 interleukin 9 IEP protein:increased expression:sputum, macrophage, cytoplasm RGD PMID:15303135 RGD:5128691 NCBI chr 5:135,892,246...135,895,841
Ensembl chr 5:135,892,246...135,895,841 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048 		JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:lung RGD PMID:15681497 RGD:5684420 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G KLF5 KLF transcription factor 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30639269 NCBI chr13:73,054,976...73,077,538
Ensembl chr13:73,054,976...73,077,541 		JBrowse link
G LCN1 lipocalin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28381600 NCBI chr 9:135,521,440...135,526,540
Ensembl chr 9:135,521,438...135,526,540 		JBrowse link
G LEP leptin severity IEP
IAGP		 protein:decreased expression:serum
DNA:polymorphism:promoter: -2548 G>A (human)
protein:increased expression:plasma		 RGD PMID:20021311 PMID:20854423 PMID:21367591 RGD:5128778, RGD:5128777, RGD:5128772 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LEPR leptin receptor disease_progression IEP
IAGP		 protein:decreased expression:lung
DNA:SNPs: :		 RGD PMID:19196818 PMID:19196818 RGD:5128813, RGD:5128813 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LOC107063610 origin of replication in promoter of HSPA1A IAGP ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 6:31,815,250...31,815,907 JBrowse link
G LOC126805899 MED14-independent group 3 enhancer GRCh37_chr1:165619651-165620850 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 1:165,650,414...165,651,613 JBrowse link
G LRP1B LDL receptor related protein 1B susceptibility IAGP associated with lung adenocarcinoma;DNA:mutations:multiple: (human) RGD PMID:28522810 RGD:150429784 NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 severity IEP RGD PMID:20699612 RGD:5490968 NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 severity IEP
ISO		 mRNA, protein:increased expression:lung (mouse) RGD PMID:20699612 PMID:34331613 RGD:5490968, RGD:155663371 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360 		JBrowse link
G MBL2 mannose binding lectin 2 IAGP
IEP		 DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:lung (human)		 RGD PMID:20688922 PMID:19411612 RGD:4889421, RGD:4889448 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G MCAM melanoma cell adhesion molecule IEP RGD PMID:23649916 RGD:7364780 NCBI chr11:119,308,529...119,317,130
Ensembl chr11:119,308,529...119,321,521 		JBrowse link
G MGST1 microsomal glutathione S-transferase 1 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr12:16,347,115...16,593,331
Ensembl chr12:16,347,142...16,609,259 		JBrowse link
G MGST3 microsomal glutathione S-transferase 3 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 1:165,631,234...165,656,136
Ensembl chr 1:165,631,213...165,661,796 		JBrowse link
G MIF macrophage migration inhibitory factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:26752192 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227 		JBrowse link
G MIR126 microRNA 126 IEP RNA:decreased expression:lung RGD PMID:36522710 RGD:401850545 NCBI chr 9:136,670,602...136,670,686
Ensembl chr 9:136,670,602...136,670,686 		JBrowse link
G MIR210 microRNA 210 disease_progression IEP 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 chr11:568,089...568,198
Ensembl chr11:568,089...568,198 		JBrowse link
G MIR218-2 microRNA 218-2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28864214 NCBI chr 5:168,768,146...168,768,255
Ensembl chr 5:168,768,146...168,768,255 		JBrowse link
G MIR4713HG MIR4713 host gene IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr15:51,037,488...51,293,912
Ensembl chr15:51,037,174...51,322,480 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO
IAGP		 mRNA:increased expression:bone (rat)
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset
ClinVar Annotator: match by term: PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN		 ClinVar
RGD		 PMID:9850057 PMID:11741975 PMID:11875051 PMID:18030675 PMID:25741868 More... RGD:7207216 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP14 matrix metallopeptidase 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19661247 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity
treatment
susceptibility		 IAGP
EXP
ISO
IEP		 DNA:polymorphism:promoter:-1562C-->T (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
DNA:polymorphism: :-1562C-->T (human)		 CTD
RGD		 PMID:19299917 PMID:18619044 PMID:25842729 PMID:19411568 PMID:20160424 RGD:5130149, RGD:13207319, RGD:5129553, RGD:5129494 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MPO myeloperoxidase severity ISO
IEP		 protein:increased activity:plasma
protein:increased expression:serum		 RGD PMID:19491038 PMID:10917466 RGD:5130997, RGD:5130993 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935 		JBrowse link
G MTCL1 microtubule crosslinking factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr18:8,705,556...8,832,778
Ensembl chr18:8,705,556...8,832,778 		JBrowse link
G MUC1 mucin 1, cell surface associated IEP protein:increased expression:sputum (human) RGD PMID:21474912 RGD:5131160 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916 		JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming treatment IEP
ISO		 mRNA, protein:increased expression:lung
protein:increased expression:bronchi		 RGD PMID:17637221 PMID:22282955 PMID:19723147 RGD:4145655, RGD:7349406, RGD:5131190 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138 		JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IEP protein:increased expression:sputum RGD PMID:18776153 RGD:5131169 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172 		JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility IAGP DNA:polymorphisms: : RGD PMID:17442289 PMID:12884528 RGD:4892219, RGD:5131863 NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 IEP
ISO		 protein:decreased expression:lung
protein:increased expression:lung		 RGD PMID:18556627 PMID:22737924 RGD:5134980, RGD:10412732 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 severity IAGP DNA:SNP:intron: (rs1077861) (human) RGD PMID:21943069 RGD:5508720 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G NOS1 nitric oxide synthase 1 severity IEP mRNA, protein:increased expression:lung
protein:increased expression:skeletal muscle		 RGD PMID:19797159 PMID:12816735 RGD:5132607, RGD:5132628 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170 		JBrowse link
G NOS2 nitric oxide synthase 2 IEP
EXP		 protein:increased expression:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21843929 PMID:12797490 RGD:4891444 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21843929 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 susceptibility
treatment		 IAGP
ISO
IEP		 DNA:polymorphisms: :465C>T, 609C>T (human)
protein, mRNA:decreased expression:lung		 RGD PMID:19705749 PMID:28790194 PMID:18556627 RGD:5133267, RGD:13439712, RGD:5134980 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IEP
IDA		 protein:decreased expression:lung, lymphocyte RGD PMID:20450542 PMID:9926163 RGD:4892318, RGD:4892564 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NTF3 neurotrophin 3 IEP mRNA:decreased expression:bronchus RGD PMID:15843147 RGD:4891120 NCBI chr12:5,430,332...5,495,299
Ensembl chr12:5,432,108...5,521,536 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IEP protein:increased expression:bronchiolar epithelial cell RGD PMID:21429417 RGD:5684530 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G PDE3B phosphodiesterase 3B IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr11:14,643,804...14,899,321
Ensembl chr11:14,643,804...14,872,044 		JBrowse link
G PIRC66 piwi-interacting RNA cluster 66 IAGP ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr15:51,037,584...51,322,397 JBrowse link
G PLAU plasminogen activator, urokinase severity IEP
ISO		 protein:increased expression:sputum, neutrophil RGD PMID:20624254 PMID:17651644 RGD:6483803, RGD:6484146 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G PLAUR plasminogen activator, urokinase receptor ISO protein:increased expression:bronchus RGD PMID:17651644 RGD:6484146 NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547 		JBrowse link
G PON1 paraoxonase 1 IEP protein:decreased activity:serum (human) RGD PMID:16380766 RGD:8547571 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha IEP RGD PMID:20732852 RGD:6484530 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IAGP
IEP		 DNA:polymorphism: :g.-765G>C (human)
protein:increased expression:sputum		 RGD PMID:21655952 PMID:15949313 RGD:5135277, RGD:5143926 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22363678 NCBI chr12:47,734,363...47,758,880
Ensembl chr12:47,734,363...47,771,040 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G RNASEL ribonuclease L ISO RGD PMID:23913960 RGD:40902622 NCBI chr 1:182,573,634...182,589,256
Ensembl chr 1:182,573,634...182,589,256 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ameliorates IAGP DNA:SNP:cds:rs4809324 (human) RGD PMID:28360516 RGD:152985694 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 IAGP ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr11:62,419,033...62,423,195
Ensembl chr11:62,405,103...62,423,195 		JBrowse link
G SELP selectin P severity IEP protein:increased expression:plasma RGD PMID:20646456 RGD:6478682 NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP
EXP		 ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:301355 PMID:1087161 PMID:1608473 PMID:1889260 PMID:2339709 More... RGD:4140387 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SERPINA3 serpin family A member 3 susceptibility IEP
IAGP		 protein:increased expression:plasma
ClinVar Annotator: match by term: ANTICHYMOTRYPSIN BONN 1
DNA:missense mutations:Cds:p.L55P, P229A
DNA:polymorphism:exon:p.A-15T (human)		 ClinVar
RGD		 PMID:1351206 PMID:8102759 PMID:8244391 PMID:25741868 PMID:17261175 More... RGD:5147433, RGD:5147449, RGD:5147441 NCBI chr14:94,612,391...94,624,053
Ensembl chr14:94,612,384...94,624,055 		JBrowse link
G SERPINE1 serpin family E member 1 IEP
ISO		 protein:increased expression:bronchus RGD PMID:11929177 PMID:17651644 RGD:4144041, RGD:6484146 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SFTPA1 surfactant protein A1 susceptibility IEP
IAGP		 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 chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455 		JBrowse link
G SFTPB surfactant protein B susceptibility
severity		 IAGP DNA:polymorphism: :1580C>T (human)
DNA:SNP: :p.T131I (rs1130866) (human)
DNA:SNPs: :multiple (human)		 RGD PMID:11589345 PMID:15817713 PMID:18550614 PMID:15315329 RGD:4143423, RGD:4143396, RGD:4143290, RGD:4143402 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741 		JBrowse link
G SFTPC surfactant protein C disease_progression IAGP DNA:polymorphism: :186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G SFTPD surfactant protein D susceptibility
severity		 IDA
EXP
IAGP
IEP		 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 chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 treatment ISO RGD PMID:32707498 RGD:597538521 NCBI chr 5:132,294,394...132,344,190
Ensembl chr 5:132,294,394...132,344,190 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 treatment ISO RGD PMID:32707498 RGD:597538521 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 susceptibility IAGP DNA:SNP: :rs2020936 (human) RGD PMID:20981038 RGD:4889426 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002 		JBrowse link
G SLPI secretory leukocyte peptidase inhibitor treatment ISO RGD PMID:18375249 RGD:9999419 NCBI chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564 		JBrowse link
G SMAD4 SMAD family member 4 treatment ISO RGD PMID:18375249 RGD:9999419 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISO protein:increased expression:lung: RGD PMID:20448054 RGD:10041059 NCBI chr16:68,358,327...68,448,508
Ensembl chr16:68,358,327...68,448,508 		JBrowse link
G SOD3 superoxide dismutase 3 susceptibility IAGP
EXP		 DNA:polymorphism: :p.R213G (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16399992 PMID:16467073 PMID:16399992 RGD:1581270 NCBI chr 4:24,795,573...24,800,842
Ensembl chr 4:24,789,912...24,800,842 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO protein:increased expression:lung RGD PMID:24321062 RGD:8661725 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		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 chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613 		JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar PMID:25346280 PMID:25741868 PMID:28492532 PMID:30523342 PMID:30791107 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TGFB1 transforming growth factor beta 1 susceptibility
no_association		 ISO
EXP
IAGP
IEP		 CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:869T>C (human)
DNA:polymorphisms: :509C>T, 869T>C (human)
protein:increased expression:plasma		 CTD
RGD		 PMID:16365456 PMID:31349846 PMID:18269849 PMID:20193474 PMID:19186046 More... RGD:4145292, RGD:4145115, RGD:4145140, RGD:4145140 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:25842729 RGD:13207319 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G TLR4 toll like receptor 4 susceptibility IAGP
IEP		 DNA:polymorphism:blood cells
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset
decreased expression:protein:monocyte		 ClinVar
RGD		 PMID:10835634 PMID:12124407 PMID:15547160 PMID:15829498 PMID:16879199 More... RGD:4144119, RGD:4144145 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TNF tumor necrosis factor disease_progression
no_association		 IAGP
EXP
IEP		 DNA;polymorphism: :rs361525 (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter
DNA:polymorphism: :c. 489G>A (human)
protein:increased expression:sputum
DNA:SNPs:promoter
protein:increased expression:serum
DNA:SNP:promoter:c.-308 G>A (human)		 CTD
RGD		 PMID:15337792 PMID:29497291 PMID:34652871 PMID:20299531 PMID:11179116 More... RGD:4143391, RGD:4143424, RGD:4143421, RGD:4143270, RGD:4143273, RGD:4143272, RGD:4145714 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity IEP protein:increased expression:plasma (human) RGD PMID:19643942 RGD:5131203 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B severity IEP protein:increased expression:sputum (human) RGD PMID:21037022 RGD:5131154 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29984229 NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207 		JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29984229 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		JBrowse link
G TNNT2 troponin T2, cardiac type EXP CTD Direct Evidence: marker/mechanism CTD PMID:18068611 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G TOLLIP toll interacting protein IAGP ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr11:1,274,371...1,309,632
Ensembl chr11:1,274,371...1,309,654 		JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17274270 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21245013 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G VDR vitamin D receptor IAGP ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
G VEGFA vascular endothelial growth factor A treatment IEP
ISO		 protein:increased expression:lung RGD PMID:15681497 PMID:20705587 RGD:5684420, RGD:10755705 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G XRCC5 X-ray repair cross complementing 5 susceptibility IAGP DNA:SNPs:multiple (human) RGD PMID:20463177 RGD:8698653 NCBI chr 2:216,109,348...216,206,293
Ensembl chr 2:216,107,464...216,206,303 		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 IEP RGD PMID:11991282 RGD:4145442 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334 		JBrowse link
G CFTR CF transmembrane conductance regulator susceptibility IAGP associated with pulmonary disease chronic obstructive; DNA:missense mutation:exon:p.R75Q(human)
DNA:deletion: :F508del(human)		 RGD PMID:15463907 PMID:10767489 RGD:4140475, RGD:4140484 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP DNA:SNPs: :multiple (human) RGD PMID:19386687 RGD:4891509 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility IAGP DNA:polymorphism (human) RGD PMID:15928955 RGD:4142512 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 IAGP DNA:polymorphism (human) RGD PMID:14593914 RGD:4889126 NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220 		JBrowse link
G EDN1 endothelin 1 ISO Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse) RGD PMID:18631350 RGD:4145074 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G GC GC vitamin D binding protein susceptibility IAGP RGD PMID:12096683 RGD:5129516 NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 severity IAGP DNA:deletion: :
DNA:deletion, haplotype: : (human)		 RGD PMID:9187680 PMID:15125256 RGD:4142513, RGD:12798508 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion: : RGD PMID:15928955 RGD:4142512
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:bronchial epithelium (rat) RGD PMID:19507274 RGD:2308951 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IL10 interleukin 10 ISO protein:decreased expression:lung RGD PMID:19507274 RGD:2308951 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL13 interleukin 13 IEP protein:increased expression:Respiratory Mucosa RGD PMID:14582911 RGD:4759835 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL15 interleukin 15 IEP mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987 		JBrowse link
G MPO myeloperoxidase ISO protein:increased expression:lung RGD PMID:11798689 RGD:5130990 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:19938219 RGD:4891494 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NPY neuropeptide Y EXP CTD Direct Evidence: marker/mechanism CTD PMID:9731035 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862 		JBrowse link
G VEGFA vascular endothelial growth factor A EXP CTD Direct Evidence: marker/mechanism CTD PMID:19263519 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		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 chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G AGER advanced glycosylation end-product specific receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:30659203 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G ALB albumin IEP RGD PMID:24365562 RGD:11035274 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISS OMIM:130700 MouseDO NCBI chr15:45,587,123...45,609,716
Ensembl chr15:45,587,214...45,615,945 		JBrowse link
G CCL11 C-C motif chemokine ligand 11 disease_progression IEP associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:lung RGD PMID:17983873 RGD:4145393 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 disease_progression IEP associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:sputum RGD PMID:20966041 RGD:4891458 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO
IEP		 mRNA, protein:increased expression:lung (mouse)
protein:increased expression:lung, lymphocyte (human)		 RGD PMID:16284650 PMID:15526056 PMID:17883726 RGD:4892098, RGD:4892104, RGD:4892090 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CHI3L1 chitinase 3 like 1 ISO RGD PMID:20656949 RGD:4892658 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704 		JBrowse link
G CLPTM1L CLPTM1 like severity IAGP associated with smoking; DNA:SNP:intron:rs31489(human) RGD PMID:21622582 RGD:150530642 NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099 		JBrowse link
G CSF3 colony stimulating factor 3 treatment IDA RGD PMID:19537526 RGD:11039438 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:18772344 RGD:4891888 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044 		JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IEP protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497 		JBrowse link
G CXCL3 C-X-C motif chemokine ligand 3 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr 4:74,036,589...74,038,689
Ensembl chr 4:74,036,589...74,038,807 		JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677 		JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 IEP protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 IEP RGD PMID:15526056 RGD:4892104 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511 		JBrowse link
G CYP2A6 cytochrome P450 family 2 subfamily A member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12832682 NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447 		JBrowse link
G DEFB1 defensin beta 1 ISO mRNA:decreased expression:lung RGD PMID:18699806 RGD:4892249 NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936 		JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:19897563 RGD:4892307 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G EGR1 early growth response 1 resistance IEP
ISO		 mRNA, protein:increased expression:lung (human)
associated with Tobacco Use Disorder;protein:increased expression:lung, epithelial cell (mouse)		 RGD PMID:11021835 PMID:16601242 PMID:18830406 RGD:5131973, RGD:5131892, RGD:5131853 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303 		JBrowse link
G ELANE elastase, neutrophil expressed ISO RGD PMID:12186827 RGD:10450557 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G ELN elastin EXP CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EPHX1 epoxide hydrolase 1 no_association
susceptibility		 IAGP
EXP		 associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:SNP:exon:p.Y113H (rs1051740) (human)		 CTD
RGD		 PMID:9288046 PMID:20525719 PMID:10853854 PMID:9288046 PMID:12579334 RGD:4140935, RGD:4889406, RGD:1601065, RGD:4889405 NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563 		JBrowse link
G FGA fibrinogen alpha chain ISO protein:increased expression:plasma (rat) RGD PMID:20949089 RGD:11040553 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G FSTL1 follistatin like 1 ISS OMIM:130700 MouseDO NCBI chr 3:120,392,293...120,450,992
Ensembl chr 3:120,392,293...120,451,016 		JBrowse link
G FUT8 fucosyltransferase 8 ISS OMIM:130700 MouseDO NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO RGD PMID:19879314 RGD:5134681 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion: : RGD PMID:20495862 RGD:4140927 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 IEP RGD PMID:19723343 RGD:5135041 NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 IAGP associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP (human) RGD PMID:20525719 RGD:4140935 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		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 chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308 		JBrowse link
G HHIP hedgehog interacting protein ISO DNA:haplotype insufficiency: : RGD PMID:25763110 RGD:11552596 NCBI chr 4:144,646,156...144,745,271
Ensembl chr 4:144,646,156...144,745,271 		JBrowse link
G HMOX1 heme oxygenase 1 susceptibility IAGP
EXP		 DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10631150 PMID:10631150 RGD:1601606 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G IL13 interleukin 13 ISO RGD PMID:11067861 RGD:4145652 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL17RA interleukin 17 receptor A ISO RGD PMID:21647421 RGD:5144212 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693 		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 chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 treatment ISO associated with common cold; RGD PMID:30952808 RGD:40400740 NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037 		JBrowse link
G ITGB6 integrin subunit beta 6 ISO
ISS
EXP		 OMIM:130700
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:12634787 PMID:12634787 RGD:737734 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,271,888 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISS OMIM:130700 MouseDO NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 onset IEP
ISO		 protein:increased expression:lung (human) RGD PMID:18559366 PMID:19520915 RGD:5134973, RGD:6893395 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G KL klotho ISS OMIM:130700 MouseDO NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G LOX lysyl oxidase IAGP ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:17363767 RGD:4890375 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP12 matrix metallopeptidase 12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12634787 PMID:25106431 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO
EXP		 protein:increased activity:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25106431 PMID:19897563 RGD:4892307 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO
EXP
IEP
IMP		 protein:increased activity:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25106431 PMID:19897563 PMID:14605041 PMID:18408070 RGD:4892307, RGD:8547887, RGD:5130151 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISS OMIM:130700 MouseDO NCBI chr11:65,859,674...65,867,653
Ensembl chr11:65,857,126...65,867,653 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 IEP protein:decreased expression:lung: RGD PMID:18559366 RGD:5134973 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO RGD PMID:20472710 RGD:4891488 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA,protein:increased expression:lung RGD PMID:20956973 PMID:22000010 PMID:20472710 RGD:4891415, RGD:5509103, RGD:4891488 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA,protein:increased expression:lung RGD PMID:20956973 RGD:4891415 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 IEP mRNA:decreased expression:lung RGD PMID:18559366 RGD:5134973 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		JBrowse link
G PGF placental growth factor ISO mRNA, protein:increased expression:lung, plasma RGD PMID:17023518 RGD:5135245 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23144332 RGD:7242020 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:20472710 RGD:4891488 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTMA prothymosin alpha ISS OMIM:130700 MouseDO NCBI chr 2:231,708,525...231,713,551
Ensembl chr 2:231,706,895...231,713,551 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:27982104 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP
EXP
IDA		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:3485249 PMID:21030517 PMID:19941265 RGD:4892126, RGD:4892125 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SFTPC surfactant protein C susceptibility IAGP DNA:polymorphism: :138A>C, 186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G SMO smoothened, frizzled class receptor ISS OMIM:130700 MouseDO NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 IEP protein:increased expression:lung: RGD PMID:20448054 RGD:10041059 NCBI chr16:68,358,327...68,448,508
Ensembl chr16:68,358,327...68,448,508 		JBrowse link
G SRFBP1 serum response factor binding protein 1 IAGP ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:121,961,975...122,078,935
Ensembl chr 5:121,961,975...122,075,570 		JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:19445658 RGD:5147818 NCBI chr 2:75,046,463...75,199,520
Ensembl chr 2:75,046,463...75,199,520 		JBrowse link
G TGFB1 transforming growth factor beta 1 severity IAGP
EXP		 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 chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression:alveolar macrophage RGD PMID:18399852 RGD:4145342 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TLR4 toll like receptor 4 ISO
ISS		 OMIM:130700 MouseDO
RGD		 PMID:17053835 RGD:4144170 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 145369
    disease of anatomical entity 132557
      respiratory system disease 21939
        lower respiratory tract disease 8811
          lung disease 8745
            obstructive lung disease 5016
              chronic obstructive pulmonary disease 1348
                Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome 0
                Chronic Bronchitis 40
                Mucus Inspissation of Respiratory Tract 0
                pulmonary emphysema + 101
paths to the root