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RGD DISEASE ONTOLOGY - ANNOTATIONS

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


show annotations for term's descendants           Sort by:
chronic obstructive pulmonary disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 severity ISO mRNA:decreased expression:respiratory epithelial cell
DNA:SNPs: :rs212093, rs4148382 (human)		 RGD PMID:12930913 PMID:20487524 RGD:5128824 RGD:5128827 NCBI chr 6:27,855,702...27,950,140
Ensembl chr 6:27,855,702...27,989,331 		JBrowse link
G ACE angiotensin I converting enzyme susceptibility
disease_progression		 ISO DNA:polymorphism (human) RGD PMID:19493329 PMID:20096799 PMID:20156752 RGD:4140480 RGD:4140487 RGD:4140912 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		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 chr24:17,668,377...17,682,217
Ensembl chr24:17,668,500...17,681,209 		JBrowse link
G ADAM9 ADAM metallopeptidase domain 9 ISO protein:increased expression:pulmonary artery RGD PMID:36522710 RGD:401850545 NCBI chr16:26,413,345...26,551,293
Ensembl chr16:26,414,583...26,551,122 		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 chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844 		JBrowse link
G ADORA2A adenosine A2a receptor ISO RGD PMID:16339780 RGD:4890385 NCBI chr26:28,141,076...28,150,600
Ensembl chr26:28,141,076...28,150,598 		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 chr28:24,908,224...24,909,684
Ensembl chr28:24,908,224...24,909,684 		JBrowse link
G ADRB2 adrenoceptor beta 2 no_association
severity
disease_progression		 ISO DNA:polymorphism: :p.Q27E (human)
DNA:SNP: :p.R16G (human)
protein:decreased expression:blood, sputum, mononuclear cell
DNA:SNPs: :p.R16G, p.Q27E (human)
DNA:SNPs: :rs1042717, rs1042718 (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 chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO ClinVar Annotator: match by term: COPD, severe early onset ClinVar NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 3:57,005,106...57,139,585
Ensembl chr 3:57,008,570...57,159,713 		JBrowse link
G ARNTL2 aryl hydrocarbon receptor nuclear translocator like 2 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr27:20,304,404...20,420,086
Ensembl chr27:20,306,705...20,420,736 		JBrowse link
G B9D2 B9 domain containing 2 no_association
susceptibility		 ISO DNA:polymorphisms: :509C>T, 869T>C (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
DNA:SNP:exon:869T>C (human)		 RGD
CTD		 PMID:16365456 PMID:18269849 PMID:19186046 PMID:20193474 PMID:31349846 RGD:4145115 RGD:4145140 RGD:4145292 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BAMBI BMP and activin membrane bound inhibitor ISO mRNA:increased expression:CD4+ T : RGD PMID:27549738 RGD:14390164 NCBI chr 2:17,453,628...17,459,812
Ensembl chr 2:17,455,243...17,462,346 		JBrowse link
G BCL2L1 BCL2 like 1 ISO mRNA:increased expression:peripheral blood, neutrophil (human) RGD PMID:22686245 RGD:11353864 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355 		JBrowse link
G BDKRB2 bradykinin receptor B2 ISO RGD PMID:16600946 RGD:4890451 NCBI chr 8:64,974,588...65,005,682
Ensembl chr 8:64,974,997...65,003,407 		JBrowse link
G BNIP3 BCL2 interacting protein 3 treatment ISO RGD PMID:25888379 RGD:11561985 NCBI chr28:40,037,681...40,050,499
Ensembl chr28:40,038,643...40,049,797 		JBrowse link
G C3 complement C3 ISO protein:increased expression:lung RGD PMID:17975205 RGD:5129504 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761 		JBrowse link
G C5 complement C5 severity ISO protein:increased expression:sputum RGD PMID:20500690 RGD:5129705 NCBI chr11:73,953,727...74,029,919
Ensembl chr11:73,953,727...74,029,851 		JBrowse link
G C5AR1 complement C5a receptor 1 ISO protein:increased expression:lung, mast cell RGD PMID:19926870 RGD:5130165 NCBI chr 1:108,659,637...108,704,217
Ensembl chr 1:108,659,637...108,675,401 		JBrowse link
G CASP12 caspase 12 treatment ISO RGD PMID:24694971 RGD:13782182 NCBI chr 5:27,162,840...27,176,964
Ensembl chr 5:27,161,700...27,177,683 		JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:28496315 RGD:13782303 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505 		JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:28496315 RGD:13782303 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822 		JBrowse link
G CAT catalase ISO RGD PMID:20080081 RGD:4293707 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G CCL1 C-C motif chemokine ligand 1 severity ISO DNA:SNP:enhancer:rs2282691 (human) RGD PMID:16864713 RGD:4891410 NCBI chr 9:38,931,895...38,936,969
Ensembl chr 9:38,933,514...38,961,187 		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 2:59,001,463...59,014,347
Ensembl chr 2:59,001,464...59,005,230 		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 chr 9:39,008,187...39,009,932 JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion RGD PMID:18684970 RGD:4145489 NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625 		JBrowse link
G CCL4 chemokine (C-C motif) ligand 4 ISO RGD PMID:11475557 PMID:17868461 RGD:5130900 RGD:5130901 NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA, protein:increased expression:lung, bronchial epithelium, submucosa (human) RGD PMID:19703829 RGD:4891477 NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852 		JBrowse link
G CCL7 C-C motif chemokine ligand 7 ISO mRNA,protein:increased expression:macrophage RGD PMID:21327296 RGD:6483765 NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483 		JBrowse link
G CCL8 C-C motif chemokine ligand 8 ISO RGD PMID:20970515 RGD:5131087 NCBI chr 9:38,949,184...38,950,702
Ensembl chr 9:38,948,184...38,950,803 		JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA, protein:increased expression:lung (rat) RGD PMID:19659652 RGD:2314483 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145 		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 chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO protein:increased expression:blood (human) RGD PMID:19229703 RGD:4892070 NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952 		JBrowse link
G CD28 CD28 molecule ISO CD28 null allele is increased in COPD RGD PMID:18057064 PMID:19220836 RGD:5131618 RGD:5131620 NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854 		JBrowse link
G CD40 CD40 molecule severity ISO RGD PMID:20699612 RGD:5490968 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301 		JBrowse link
G CD80 CD80 molecule ISO RGD PMID:19729666 RGD:4892292 NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380 		JBrowse link
G CD86 CD86 molecule susceptibility
severity		 ISO DNA:polymorphism:cds:g.1057G>A rs1129055 (human)
protein:increased expression:lung, myeloid dendritic cell (human)		 RGD PMID:19729666 PMID:20732370 RGD:4891504 RGD:4892292 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087 		JBrowse link
G CD8A CD8 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17950725 NCBI chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35303175 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35303175 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CFTR CF transmembrane conductance regulator disease_progression ISO DNA:polymorphism:cds:p.M470V(human) RGD PMID:18652532 RGD:4140431 NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977 		JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:20656949 RGD:4892658 NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427 		JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 ISO RGD PMID:19281093 RGD:5133441 NCBI chr 4:504,663...999,550
Ensembl chr 4:506,990...520,613 		JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit susceptibility
disease_progression		 ISO associated with smoking; DNA:SNP::rs1051730(human)
DNA:SNP: :rs12910984(human)
associated with smoking; DNA:SNP: :rs1051730(human)
DNA:SNP: :rs6495309(human)		 RGD PMID:22441734 PMID:23056235 PMID:23207642 PMID:26751916 PMID:29993116 RGD:150526806 RGD:150527850 RGD:151347455 RGD:151347536 RGD:151347538 NCBI chr13:38,330,287...38,343,142
Ensembl chr13:38,328,814...38,346,246 		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 chr13:38,343,966...38,355,534
Ensembl chr13:38,346,104...38,355,468 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit disease_progression ISO DNA:CNV:: CNV-3956(human) RGD PMID:25407004 RGD:11074492 NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399 		JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr13:38,312,537...38,327,242
Ensembl chr13:38,312,173...38,328,341 		JBrowse link
G CLCA1 chloride channel accessory 1 severity ISO DNA:SNPs: :multiple (human)
mRNA:increased expression:bronchus		 RGD PMID:14985398 PMID:17637221 RGD:1331524 RGD:4145655 NCBI chr 6:61,620,755...61,650,111
Ensembl chr 6:61,620,995...61,650,083 		JBrowse link
G CMA1 chymase 1 ISO protein:increased expression:respiratory tract epithelium, mast cell (human) RGD PMID:18783610 RGD:5128552 NCBI chr 8:4,438,244...4,441,189
Ensembl chr 8:4,438,244...4,441,189 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO RGD PMID:15469929 RGD:5131854 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927 		JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 treatment ISO DNA:SNP:intron: (rs242941) (human) RGD PMID:19210659 RGD:11097322 NCBI chr 9:9,708,696...9,763,281
Ensembl chr 9:9,714,204...9,763,402 		JBrowse link
G CRP C-reactive protein severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
protein:increased expression:serum 		CTD
RGD		 PMID:21468168 PMID:21506665 PMID:29329563 RGD:5131278 RGD:5131279 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166 		JBrowse link
G CSF2 colony stimulating factor 2 ISO protein:increased expression:sputum RGD PMID:19213775 RGD:5131476 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959 		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 chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:sputum RGD PMID:17925429 RGD:5135436 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979 		JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 ISO protein:increased expression:sputum RGD PMID:17925429 RGD:5135436 NCBI chr32:631,084...636,997
Ensembl chr32:631,478...632,868
Ensembl chr32:631,478...632,868 		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 chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 severity ISO RGD PMID:12857718 RGD:5135248 NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247 		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:55,882,433...55,884,582
Ensembl chr  X:55,882,433...55,884,582 		JBrowse link
G CYBA cytochrome b-245 alpha 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 5:64,692,865...64,701,056
Ensembl chr 5:64,692,123...64,704,893 		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 chr30:37,474,997...37,487,028
Ensembl chr30:37,473,901...37,487,507 		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 chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 no_association
susceptibility
severity		 ISO DNA:polymorphisms: :2455A>G, 3801T>C (human)
DNA:polymorphisms: :p.I462V, 3801T>C (human)
DNA:polymorphism (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18389617 PMID:19022366 PMID:19507017 PMID:20080081 RGD:4293707 RGD:4892045 RGD:4892071 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866 		JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :-3860G>A (human)		 CTD
RGD		 PMID:20080081 PMID:20797314 RGD:4293707 NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135 		JBrowse link
G CYP2C41 cytochrome P450 2C41 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar
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 chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754 		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 chr 5:49,942,241...49,986,603
Ensembl chr 5:49,942,193...49,984,617 		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 chr21:37,553,883...37,579,744
Ensembl chr21:37,552,732...37,606,725 		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 chr 8:68,064,898...68,095,537
Ensembl chr 8:68,041,344...68,095,212 		JBrowse link
G CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr15:13,663,337...13,676,350
Ensembl chr15:13,604,130...13,676,344 		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 chr15:13,676,631...13,694,483
Ensembl chr15:13,676,371...13,694,705 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 treatment ISO RGD PMID:24694971 RGD:13782182 NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303 		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 chr16:58,871,018...58,881,592
Ensembl chr16:58,871,018...58,881,592 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044 		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 chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383 		JBrowse link
G EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific ISO CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr20:2,138,475...2,405,420
Ensembl chr20:2,155,822...2,405,418 		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 chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		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 chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575 		JBrowse link
G ELN elastin ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:16081882 PMID:25106431 RGD:1580326 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325 		JBrowse link
G EPHX1 epoxide hydrolase 1 susceptibility
no_association		 ISO DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:polymorphism
DNA:SNP:exon:p.H139R (rs2234922) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple (human)		 RGD
CTD		 PMID:9288046 PMID:17564249 PMID:18614560 PMID:18811882 PMID:20932192 RGD:1601065 RGD:4889120 RGD:4889121 RGD:4889122 RGD:4889123 NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression:lung RGD PMID:17908459 RGD:2289953 NCBI chr10:406,856...424,746
Ensembl chr10:406,633...424,264 		JBrowse link
G F2 coagulation factor II, thrombin severity ISO RGD PMID:21660493 RGD:5147752 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G F2RL1 F2R like trypsin receptor 1 ISO RGD PMID:21245013 RGD:4892586 NCBI chr 3:29,801,119...29,810,006
Ensembl chr 3:29,800,211...29,810,180 		JBrowse link
G FAIM2 Fas apoptotic inhibitory molecule 2 ISO RGD PMID:29208459 RGD:13792601 NCBI chr27:4,802,711...4,831,230
Ensembl chr27:4,798,235...4,827,917 		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 chr32:11,993,628...12,313,165
Ensembl chr32:11,998,114...12,338,803 		JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:29208459 RGD:13792601 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FASLG Fas ligand ISO RGD PMID:29208459 RGD:13792601 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:lung RGD PMID:15681497 RGD:5684420 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621 		JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23099361 NCBI chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198 		JBrowse link
G GC GC vitamin D binding protein ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar PMID:28492532 NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929 		JBrowse link
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 susceptibility ISO DNA:SNP: :rs8099939 RGD PMID:28900078 RGD:401900295 NCBI chr 1:112,270,157...112,321,672
Ensembl chr 1:112,270,424...112,321,672 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B susceptibility ISO DNA:SNP: :rs2268132 RGD PMID:28900078 RGD:401900295 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680 		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 chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182 		JBrowse link
G GZMA granzyme A ISO RGD PMID:20047264 RGD:5135520 NCBI chr 2:42,490,712...42,498,655
Ensembl chr 2:42,490,069...42,498,464 		JBrowse link
G GZMB granzyme B ISO RGD PMID:20540777 RGD:5135516 NCBI chr 8:4,508,718...4,511,824
Ensembl chr 8:4,470,577...4,512,628 		JBrowse link
G HDAC2 histone deacetylase 2 treatment ISO protein:decreased expression:lung:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15337792 PMID:18421014 PMID:22732689 PMID:24940433 RGD:7204496 RGD:9590287 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578 		JBrowse link
G HDAC8 histone deacetylase 8 severity ISO mRNA:decreased expression:lung (human) RGD PMID:15888697 RGD:13208820 NCBI chr  X:56,357,205...56,574,443
Ensembl chr  X:56,357,177...56,574,401 		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 chr15:43,432,464...43,525,973
Ensembl chr15:43,431,650...43,520,861 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752192 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692 		JBrowse link
G HMOX1 heme oxygenase 1 severity
susceptibility
treatment		 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:17254481 PMID:20705587 PMID:21088618 PMID:25741868 More... RGD:10755705 RGD:4145371 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G HSP70 heat shock protein 70 ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr12:1,285,282...1,287,670 JBrowse link
G HSPA4 heat shock protein family A (Hsp70) member 4 no_association ISO protein:increased expression:bronchial mucosa (human)
protein:increased expression:serum (human)		 RGD PMID:19350847 PMID:22140545 RGD:5688779 RGD:5688781 NCBI chr11:21,290,603...21,363,701
Ensembl chr11:21,290,621...21,505,122 		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 chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037 		JBrowse link
G HYKK hydroxylysine kinase ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr13:38,379,990...38,396,251
Ensembl chr13:38,378,646...38,396,239 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:airway epithelium (mouse)
mRNA:increased expression:airway epithelial cell (human)		 CTD
RGD		 PMID:18794286 PMID:20395558 PMID:29329563 RGD:4145446 RGD:4145522 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G IL12B interleukin 12B ISO DNA:polymorphism: : RGD PMID:19279357 RGD:4145423 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228 		JBrowse link
G IL13 interleukin 13 no_association
susceptibility		 ISO DNA:SNP:promoter:c.-1055 C>T (human)
DNA:polymorphism: :c. 1103C>T (human)
DNA:polymorphism:promoter:c.-1055C>T (human)
DNA:polymorphisms:intron1,exon4s: rs2066960, rs20541, rs1295685 (human) 		RGD PMID:15308043 PMID:15820084 PMID:19796199 PMID:19995275 RGD:4145596 RGD:4145601 RGD:4145668 RGD:4145714 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388 		JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 ISO DNA:SNP: :rs2250747 (human) RGD PMID:19796199 RGD:4145601 NCBI chr  X:90,925,497...90,981,855
Ensembl chr  X:90,924,801...90,979,963 		JBrowse link
G IL16 interleukin 16 ISO protein:increased expression:lung RGD PMID:20079227 RGD:5024924 NCBI chr 3:56,473,485...56,575,504
Ensembl chr 3:56,473,486...56,575,104 		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 chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:sputum, macrophage
protein:increased expression:serum		 RGD PMID:19208460 PMID:20026745 RGD:4889551 RGD:4889575 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348 		JBrowse link
G IL18BP interleukin 18 binding protein ISO protein:increased expression:serum RGD PMID:20026745 RGD:4889551 NCBI chr21:26,076,515...26,080,741
Ensembl chr21:26,076,700...26,078,612 		JBrowse link
G IL1B interleukin 1 beta susceptibility
severity
no_association		 ISO DNA:polymorphisms: :-31T>C, 3954T>C (human)
DNA:polymorphisms: :-31T>C, -511C>T (human)
DNA:polymorphisms: :-31T>C, 3953T>C (human)
DNA:polymorphism: :-31T>C (human)		 RGD PMID:15766560 PMID:17380888 PMID:18364273 PMID:18579366 RGD:4142866 RGD:4142868 RGD:4142873 RGD:4143169 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO mRNA:increased expression:lung: RGD PMID:19927353 PMID:30952808 RGD:40400740 RGD:5144227 NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357 		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 chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		JBrowse link
G IL27 interleukin 27 ISO DNA:polymorphisms: :-964A>G, 2905T>G (human) RGD PMID:18554158 RGD:5128484 NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635 		JBrowse link
G IL33 interleukin 33 ISO mRNA,protein:increased expression:lung: RGD PMID:30952808 RGD:40400740 NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721 		JBrowse link
G IL5 interleukin 5 ISO protein:increased expression:serum RGD PMID:20858153 RGD:4890939 NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269 		JBrowse link
G IL5RA interleukin 5 receptor subunit alpha ISO protein:increased expression:serum RGD PMID:15286446 RGD:5128619 NCBI chr20:14,309,805...14,349,433
Ensembl chr20:14,314,227...14,343,793 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:20819268 PMID:28864214 PMID:29329563 PMID:31349846 RGD:4143243 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G IL9 interleukin 9 ISO protein:increased expression:sputum, macrophage, cytoplasm RGD PMID:15303135 RGD:5128691 NCBI chr11:23,808,919...23,814,085
Ensembl chr11:23,811,117...23,814,079 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr 5:50,966,698...50,968,939 JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:lung RGD PMID:15681497 RGD:5684420 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G KLF5 KLF transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30639269 NCBI chr22:27,163,179...27,185,241
Ensembl chr22:27,162,397...27,200,871 		JBrowse link
G LEP leptin severity ISO protein:decreased expression:serum
DNA:polymorphism:promoter: -2548 G>A (human)
protein:increased expression:plasma		 RGD PMID:20021311 PMID:20854423 PMID:21367591 RGD:5128772 RGD:5128777 RGD:5128778 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395 		JBrowse link
G LEPR leptin receptor disease_progression ISO protein:decreased expression:lung
DNA:SNPs: :		 RGD PMID:19196818 RGD:5128813 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636 		JBrowse link
G LOC106557449 alveolar macrophage chemotactic factor-like severity ISO RGD PMID:12857718 RGD:5135248 NCBI chr13:62,514,244...62,516,439
Ensembl chr13:62,513,898...62,515,218 		JBrowse link
G LOC474850 heat shock 70 kDa protein 1-like ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr12:1,281,164...1,285,010
Ensembl chr12:1,281,472...1,285,440 		JBrowse link
G LOC610540 pulmonary surfactant-associated protein A-like susceptibility ISO DNA:polymorphism:cds:c.186G>A (human)
protein:increased expression:lung
DNA:SNP:cds:p.L50V (human)		 RGD PMID:11589345 PMID:19367700 PMID:19797132 RGD:4143281 RGD:4143288 RGD:4143423 NCBI chr 4:29,430,139...29,434,640 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 chr19:42,608,167...44,427,492
Ensembl chr19:42,609,684...44,427,262 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 severity ISO RGD PMID:20699612 RGD:5490968 NCBI chr 5:36,142,610...36,243,673
Ensembl chr 5:36,118,388...36,241,296 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr12:49,669,849...49,740,039
Ensembl chr12:49,672,389...49,739,850 		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 chr28:323,361...410,367
Ensembl chr28:368,513...406,401 		JBrowse link
G MBL1 mannose binding lectin 1 ISO DNA:polymorphisms:5' utr, exon:multiple (human)
protein:decreased secretion:lung (human)		 RGD PMID:19411612 PMID:20688922 RGD:4889421 RGD:4889448 NCBI chr 4:29,419,886...29,424,377 JBrowse link
G MCAM melanoma cell adhesion molecule ISO RGD PMID:23649916 RGD:7364780 NCBI chr 5:14,590,252...14,598,901
Ensembl chr 5:14,567,238...14,598,149 		JBrowse link
G MGST1 microsomal glutathione S-transferase 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr27:30,370,588...30,391,898
Ensembl chr27:30,370,594...30,391,778 		JBrowse link
G MGST3 microsomal glutathione S-transferase 3 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr38:17,670,329...17,691,822
Ensembl chr38:17,668,752...17,718,704 		JBrowse link
G MIF macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752192
G MIR126 microRNA mir-126 ISO RNA:decreased expression:lung RGD PMID:36522710 RGD:401850545 NCBI chr 9:48,879,438...48,879,496
Ensembl chr 9:48,879,432...48,879,504 		JBrowse link
G MIR218-2 microRNA mir-218-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28864214 NCBI chr 4:43,010,775...43,010,838
Ensembl chr 4:43,010,751...43,010,860 		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 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648 		JBrowse link
G MMP14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19661247 NCBI chr 8:3,183,419...3,193,079
Ensembl chr 8:3,183,606...3,194,122 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity
treatment
susceptibility		 ISO DNA:polymorphism:promoter:-1562C-->T (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :-1562C-->T (human)
protein:increased expression:serum		 RGD
CTD		 PMID:18619044 PMID:19299917 PMID:19411568 PMID:20160424 PMID:25842729 RGD:13207319 RGD:5129494 RGD:5129553 RGD:5130149 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MPO myeloperoxidase severity ISO protein:increased expression:serum
protein:increased activity:plasma		 RGD PMID:10917466 PMID:19491038 RGD:5130993 RGD:5130997 NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820 		JBrowse link
G MTCL1 microtubule crosslinking factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr 7:74,840,271...74,967,849
Ensembl chr 7:74,840,032...74,967,305 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:sputum (human) RGD PMID:21474912 RGD:5131160 NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690 		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 chr18:45,471,232...45,498,961 JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO protein:increased expression:sputum RGD PMID:18776153 RGD:5131169 NCBI chr18:45,517,479...45,545,765
Ensembl chr18:45,517,474...45,545,184 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO protein:decreased expression:lung
protein:increased expression:lung		 RGD PMID:18556627 PMID:22737924 RGD:10412732 RGD:5134980 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 severity ISO DNA:SNP:intron: (rs1077861) (human) RGD PMID:21943069 RGD:5508720 NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232 		JBrowse link
G NOS1 nitric oxide synthase 1 severity ISO protein:increased expression:skeletal muscle
mRNA, protein:increased expression:lung		 RGD PMID:12816735 PMID:19797159 RGD:5132607 RGD:5132628 NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332 		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 chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21843929 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment
susceptibility		 ISO DNA:polymorphisms: :465C>T, 609C>T (human)
protein, mRNA:decreased expression:lung		 RGD PMID:18556627 PMID:19705749 PMID:28790194 RGD:13439712 RGD:5133267 RGD:5134980 NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860 		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 chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755 		JBrowse link
G NTF3 neurotrophin 3 ISO mRNA:decreased expression:bronchus RGD PMID:15843147 RGD:4891120 NCBI chr27:39,383,017...39,454,613
Ensembl chr27:39,383,152...39,454,601 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression:bronchiolar epithelial cell RGD PMID:21429417 RGD:5684530 NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288 		JBrowse link
G OBP2B odorant binding protein 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28381600 NCBI chr 9:49,707,505...49,709,999
Ensembl chr 9:49,706,531...49,710,097 		JBrowse link
G PDE3B phosphodiesterase 3B ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr21:37,364,940...37,532,152
Ensembl chr21:37,364,623...37,530,597 		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 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851 		JBrowse link
G PLAUR plasminogen activator, urokinase receptor ISO protein:increased expression:bronchus RGD PMID:17651644 RGD:6484146 NCBI chr 1:111,476,804...111,490,876
Ensembl chr 1:111,476,893...111,490,880 		JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:16380766 RGD:8547571 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:20732852 RGD:6484530 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO DNA:polymorphism: :g.-765G>C (human)
protein:increased expression:sputum		 RGD PMID:15949313 PMID:21655952 RGD:5135277 RGD:5143926 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363678 NCBI chr27:6,993,452...7,030,372
Ensembl chr27:6,993,452...7,017,316 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875 		JBrowse link
G RNASEL ribonuclease L ISO RGD PMID:23913960 RGD:40902622 NCBI chr 7:15,978,055...16,001,604
Ensembl chr 7:15,856,151...16,001,569 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ameliorates ISO DNA:SNP:cds:rs4809324 (human) RGD PMID:28360516 RGD:152985694 NCBI chr24:47,219,977...47,248,791 JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr18:54,187,487...54,191,493
Ensembl chr18:54,187,487...54,191,482 		JBrowse link
G SELP selectin P severity ISO protein:increased expression:plasma RGD PMID:20646456 RGD:6478682 NCBI chr 7:28,956,428...28,997,266
Ensembl chr 7:28,958,486...28,996,313 		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 chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435 		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 chr 8:63,588,188...63,596,955
Ensembl chr 8:63,587,891...63,596,954 		JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:bronchus RGD PMID:11929177 PMID:17651644 RGD:4144041 RGD:6484146 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301 		JBrowse link
G SFTPB surfactant protein B severity
susceptibility		 ISO DNA:SNPs: :multiple (human)
DNA:polymorphism: :1580C>T (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 chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229 		JBrowse link
G SFTPC surfactant protein C disease_progression ISO DNA:polymorphism: :186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457 		JBrowse link
G SFTPD surfactant protein D susceptibility
severity		 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple (human)
protein:increased expression:serum
DNA:SNP: :p.A160T (human)		 RGD
CTD		 PMID:18310480 PMID:19797132 PMID:20075511 PMID:20448057 PMID:28166215 RGD:4143281 RGD:4143487 RGD:4143492 RGD:4143501 NCBI chr 4:29,394,755...29,407,499
Ensembl chr 4:29,394,678...29,407,293 		JBrowse link
G SLC22A4 solute carrier family 22 member 4 treatment ISO RGD PMID:32707498 RGD:597538521 NCBI chr11:20,599,281...20,643,893 JBrowse link
G SLC22A5 solute carrier family 22 member 5 treatment ISO RGD PMID:32707498 RGD:597538521 NCBI chr11:20,659,023...20,686,359
Ensembl chr11:20,598,888...20,683,087 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 susceptibility ISO DNA:SNP: :rs2020936 (human) RGD PMID:20981038 RGD:4889426 NCBI chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736 		JBrowse link
G SLPI secretory leukocyte peptidase inhibitor treatment ISO RGD PMID:18375249 RGD:9999419 NCBI chr24:32,566,030...32,568,406
Ensembl chr24:32,566,026...32,568,420 		JBrowse link
G SMAD4 SMAD family member 4 treatment ISO RGD PMID:18375249 RGD:9999419 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISO protein:increased expression:lung: RGD PMID:20448054 RGD:10041059 NCBI chr 5:81,089,657...81,172,173
Ensembl chr 5:81,142,888...81,172,189 		JBrowse link
G SOD3 superoxide dismutase 3 susceptibility ISO DNA:polymorphism: :p.R213G (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16399992 PMID:16467073 RGD:1581270 NCBI chr 3:85,382,698...85,387,144
Ensembl chr 3:85,382,484...85,387,455 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO protein:increased expression:lung RGD PMID:24321062 RGD:8661725 NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894 		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 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072 		JBrowse link
G TAB2 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr 1:40,125,842...40,216,455
Ensembl chr 1:40,149,569...40,215,385 		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 chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:25842729 RGD:13207319 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310 		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 chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165 		JBrowse link
G TNF tumor necrosis factor no_association
disease_progression		 ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
protein:increased expression:sputum
DNA:polymorphism: :c. 489G>A (human)
DNA:SNP:promoter:c.-308 G>A (human)
DNA:SNPs:promoter
DNA:polymorphism:promoter
DNA;polymorphism: :rs361525 (human)		 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 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity ISO protein:increased expression:plasma (human) RGD PMID:19643942 RGD:5131203 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B severity ISO protein:increased expression:sputum (human) RGD PMID:21037022 RGD:5131154 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29984229 NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29984229 NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:18068611 NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741 		JBrowse link
G TOLLIP toll interacting protein ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr18:45,559,385...45,578,467
Ensembl chr18:45,560,681...45,578,449 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17274270 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245013 NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165 		JBrowse link
G VDR vitamin D receptor ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470 		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 chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G XRCC5 X-ray repair cross complementing 5 susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:20463177 RGD:8698653 NCBI chr37:23,095,769...23,185,680
Ensembl chr37:23,095,754...23,185,586 		JBrowse link
Chronic Bronchitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNPs: :multiple (human) RGD PMID:19386687 RGD:4891509 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility ISO DNA:polymorphism (human) RGD PMID:15928955 RGD:4142512 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO DNA:polymorphism (human) RGD PMID:14593914 RGD:4889126 NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754 		JBrowse link
G EDN1 endothelin 1 ISO Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse) RGD PMID:18631350 RGD:4145074 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383 		JBrowse link
G GC GC vitamin D binding protein susceptibility ISO RGD PMID:12096683 RGD:5129516 NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:bronchial epithelium (rat) RGD PMID:19507274 RGD:2308951 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G IL10 interleukin 10 ISO protein:decreased expression:lung RGD PMID:19507274 RGD:2308951 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:Respiratory Mucosa RGD PMID:14582911 RGD:4759835 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388 		JBrowse link
G IL15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr19:1,339,607...1,364,762
Ensembl chr19:1,339,967...1,364,762 		JBrowse link
G MPO myeloperoxidase ISO protein:increased expression:lung RGD PMID:11798689 RGD:5130990 NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:19938219 RGD:4891494 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588 		JBrowse link
G NPY neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:9731035 NCBI chr14:37,824,579...37,831,289
Ensembl chr14:37,823,861...37,831,443 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19263519 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		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 chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844 		JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30659203 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129 		JBrowse link
G ALB albumin ISO RGD PMID:24365562 RGD:11035274 NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709 		JBrowse link
G B9D2 B9 domain containing 2 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 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO OMIM:130700 MouseDO NCBI chr30:11,861,119...11,949,451
Ensembl chr30:11,811,339...11,937,353 		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 chr 9:39,008,187...39,009,932 JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO protein:increased expression:lung, lymphocyte (human)
mRNA, protein:increased expression:lung (mouse)		 RGD PMID:15526056 PMID:16284650 PMID:17883726 RGD:4892090 RGD:4892098 RGD:4892104 NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952 		JBrowse link
G CHI3L1 chitinase 3 like 1 ISO RGD PMID:20656949 RGD:4892658 NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427 		JBrowse link
G CLPTM1L CLPTM1 like severity ISO associated with smoking; DNA:SNP:intron:rs31489(human) RGD PMID:21622582 RGD:150530642 NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436 		JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:19537526 RGD:11039438 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:18772344 RGD:4891888 NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15526056 RGD:4892104 NCBI chr  X:55,882,433...55,884,582
Ensembl chr  X:55,882,433...55,884,582 		JBrowse link
G CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12832682 NCBI chr 1:112,900,508...112,906,745
Ensembl chr 1:112,900,403...112,907,076 		JBrowse link
G DEFB1 defensin beta 1 ISO mRNA:decreased expression:lung RGD PMID:18699806 RGD:4892249 NCBI chr16:58,871,018...58,881,592
Ensembl chr16:58,871,018...58,881,592 		JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:19897563 RGD:4892307 NCBI chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463 		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 chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575 		JBrowse link
G ELANE elastase, neutrophil expressed ISO RGD PMID:12186827 RGD:10450557 NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932 		JBrowse link
G ELN elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325 		JBrowse link
G EPHX1 epoxide hydrolase 1 no_association
susceptibility		 ISO DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:p.Y113H (rs1051740) (human)
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 chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238 		JBrowse link
G FGA fibrinogen alpha chain ISO protein:increased expression:plasma (rat) RGD PMID:20949089 RGD:11040553 NCBI chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975 		JBrowse link
G FSTL1 follistatin like 1 ISO OMIM:130700 MouseDO NCBI chr33:23,892,317...23,914,406
Ensembl chr33:23,894,573...23,933,779 		JBrowse link
G FUT8 fucosyltransferase 8 ISO OMIM:130700 MouseDO NCBI chr 8:39,670,629...39,972,729
Ensembl chr 8:39,825,246...39,972,612 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO RGD PMID:19879314 RGD:5134681 NCBI chr12:20,999,815...21,047,779
Ensembl chr12:21,000,792...21,047,779 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 ISO RGD PMID:19723343 RGD:5135041 NCBI chr 6:42,187,869...42,191,274
Ensembl chr 6:42,187,967...42,191,273 		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 chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182 		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 chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578 		JBrowse link
G HHIP hedgehog interacting protein ISO DNA:haplotype insufficiency: : RGD PMID:25763110 RGD:11552596 NCBI chr15:43,432,464...43,525,973
Ensembl chr15:43,431,650...43,520,861 		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 chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G IL13 interleukin 13 ISO RGD PMID:11067861 RGD:4145652 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388 		JBrowse link
G IL17RA interleukin 17 receptor A ISO RGD PMID:21647421 RGD:5144212 NCBI chr27:44,798,960...44,812,287
Ensembl chr27:44,791,066...44,811,064 		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 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 treatment ISO associated with common cold; RGD PMID:30952808 RGD:40400740 NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357 		JBrowse link
G ITGB6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism
OMIM:130700		 CTD
RGD
MouseDO		 PMID:12634787 RGD:737734 NCBI chr36:5,833,206...5,962,699
Ensembl chr36:5,834,638...5,962,633 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO OMIM:130700 MouseDO NCBI chr 5:50,966,698...50,968,939 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 chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496 		JBrowse link
G KL klotho ISO OMIM:130700 MouseDO NCBI chr25:7,154,359...7,201,744
Ensembl chr25:7,156,620...7,199,558 		JBrowse link
G LOX lysyl oxidase ISO ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:17363767 RGD:4890375 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12634787 PMID:25106431 NCBI chr 5:28,918,626...28,933,404
Ensembl chr 5:28,918,594...28,933,309 		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 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO protein:increased activity:lung
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:14605041 PMID:18408070 PMID:19897563 PMID:25106431 RGD:4892307 RGD:5130151 RGD:8547887 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISO OMIM:130700 MouseDO NCBI chr18:51,396,980...51,404,563
Ensembl chr18:51,396,980...51,402,534 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO protein:decreased expression:lung: RGD PMID:18559366 RGD:5134973 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524 		JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO RGD PMID:20472710 RGD:4891488 NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433 		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 chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA,protein:increased expression:lung RGD PMID:20956973 RGD:4891415 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO mRNA:decreased expression:lung RGD PMID:18559366 RGD:5134973 NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860 		JBrowse link
G PGF placental growth factor ISO mRNA, protein:increased expression:lung, plasma RGD PMID:17023518 RGD:5135245 NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23144332 RGD:7242020 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:20472710 RGD:4891488 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G PTMA prothymosin alpha ISO OMIM:130700 MouseDO NCBI chr25:43,563,145...43,567,987
Ensembl chr25:43,562,395...43,675,699 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27982104 NCBI chr 6:22,439,643...22,481,349
Ensembl chr 6:22,439,643...22,481,349 		JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:3485249 PMID:19941265 PMID:21030517 RGD:4892125 RGD:4892126 NCBI chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435 		JBrowse link
G SFTPC surfactant protein C susceptibility ISO DNA:polymorphism: :138A>C, 186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457 		JBrowse link
G SMO smoothened, frizzled class receptor ISO OMIM:130700 MouseDO NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033 		JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISO protein:increased expression:lung: RGD PMID:20448054 RGD:10041059 NCBI chr 5:81,089,657...81,172,173
Ensembl chr 5:81,142,888...81,172,189 		JBrowse link
G SRFBP1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr11:11,937,274...12,001,841
Ensembl chr11:11,940,280...12,000,962 		JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:19445658 RGD:5147818 NCBI chr17:48,038,010...48,178,971
Ensembl chr17:48,038,010...48,178,971 		JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression:alveolar macrophage RGD PMID:18399852 RGD:4145342 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241 		JBrowse link
G TLR4 toll like receptor 4 ISO OMIM:130700 RGD
MouseDO		 PMID:17053835 RGD:4144170 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15757
    disease of anatomical entity 15377
      respiratory system disease 4970
        lower respiratory tract disease 2263
          lung disease 2224
            obstructive lung disease 458
              chronic obstructive pulmonary disease 234
                Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome 0
                Chronic Bronchitis 14
                Mucus Inspissation of Respiratory Tract 0
                pulmonary emphysema + 62
paths to the root