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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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



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chronic obstructive pulmonary disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 severity ISO DNA:SNPs: :rs212093, rs4148382 (human)
mRNA:decreased expression:respiratory epithelial cell
RGD PMID:12930913 PMID:20487524 RGD:5128824 RGD:5128827 NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,873...28,473,456
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 chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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 chr17:32,023,102...32,038,464
Ensembl chr17:32,023,091...32,037,880
JBrowse link
G ADAM9 ADAM metallopeptidase domain 9 ISO protein:increased expression:pulmonary artery RGD PMID:36522710 RGD:401850545 NCBI chr15:47,523,768...47,601,722
Ensembl chr15:47,523,771...47,601,710
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 chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
JBrowse link
G ADORA2A adenosine A2a receptor ISO RGD PMID:16339780 RGD:4890385 NCBI chr14:49,467,186...49,485,845
Ensembl chr14:49,468,877...49,485,850
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 chr14:124,400,330...124,401,739
Ensembl chr14:124,400,330...124,401,739
JBrowse link
G ADRB2 adrenoceptor beta 2 severity
no_association
disease_progression
ISO DNA:SNP: :p.R16G (human)
DNA:SNPs: :rs1042717, rs1042718 (human)
DNA:polymorphism: :p.Q27E (human)
DNA:SNPs: :p.R16G, p.Q27E (human)
protein:decreased expression:blood, sputum, mononuclear cell
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 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO ClinVar Annotator: match by term: COPD, severe early onset ClinVar NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
JBrowse link
G ANG angiogenin ISO protein:increased expression:sputum RGD PMID:21916917 RGD:6892708 NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138
JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 7:49,259,118...49,450,471
Ensembl chr 7:49,259,651...49,450,461
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 chr 5:46,289,873...46,482,369
Ensembl chr 5:46,290,001...46,482,461
JBrowse link
G BAMBI BMP and activin membrane bound inhibitor ISO mRNA:increased expression:CD4+ T : RGD PMID:27549738 RGD:14390164 NCBI chr10:40,053,368...40,058,590
Ensembl chr10:40,053,355...40,060,319
JBrowse link
G BCL2L1 BCL2 like 1 ISO mRNA:increased expression:peripheral blood, neutrophil (human) RGD PMID:22686245 RGD:11353864 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694
JBrowse link
G BDKRB2 bradykinin receptor B2 ISO RGD PMID:16600946 RGD:4890451 NCBI chr 7:117,438,622...117,472,005
Ensembl chr 7:117,438,713...117,472,005
JBrowse link
G BNIP3 BCL2 interacting protein 3 treatment ISO RGD PMID:25888379 RGD:11561985 NCBI chr14:140,362,123...140,371,951
Ensembl chr14:140,362,127...140,371,907
JBrowse link
G C3 complement C3 ISO protein:increased expression:lung RGD PMID:17975205 RGD:5129504 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
JBrowse link
G C5 complement C5 severity ISO protein:increased expression:sputum RGD PMID:20500690 RGD:5129705 NCBI chr 1:260,995,662...261,088,868
Ensembl chr 1:260,995,668...261,133,483
JBrowse link
G C5AR1 complement C5a receptor 1 ISO protein:increased expression:lung, mast cell RGD PMID:19926870 RGD:5130165 NCBI chr 6:53,097,162...53,111,563
Ensembl chr 6:53,097,142...53,111,565
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:28496315 RGD:13782303 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:28496315 RGD:13782303 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468
JBrowse link
G CAT catalase ISO RGD PMID:20080081 RGD:4293707 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCL1 C-C motif chemokine ligand 1 severity ISO DNA:SNP:enhancer:rs2282691 (human) RGD PMID:16864713 RGD:4891410 NCBI chr12:40,728,014...40,731,411
Ensembl chr12:40,728,014...40,731,411
JBrowse link
G CCL11 chemokine (C-C motif) ligand 11 severity ISO RGD PMID:19925666 RGD:4145389 NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
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 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20497022 PMID:34652871 RGD:4891429 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO RGD PMID:11475557 PMID:17868461 RGD:5130900 RGD:5130901 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
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 chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
JBrowse link
G CCL8 chemokine (C-C motif) ligand 8 ISO RGD PMID:20970515 RGD:5131087 NCBI chr12:40,740,468...40,741,970
Ensembl chr12:40,740,023...40,742,022
JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA, protein:increased expression:lung (rat) RGD PMID:19659652 RGD:2314483 NCBI chr 1:31,674,398...31,677,697
Ensembl chr 1:31,674,394...31,677,691
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,286,467
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO protein:increased expression:blood (human) RGD PMID:19229703 RGD:4892070 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
JBrowse link
G CD28 CD28 molecule ISO CD28 null allele is increased in COPD RGD PMID:18057064 PMID:19220836 RGD:5131618 RGD:5131620 NCBI chr15:107,128,103...107,155,431
Ensembl chr15:107,128,203...107,162,935
JBrowse link
G CD40 CD40 molecule severity ISO RGD PMID:20699612 RGD:5490968 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:19729666 RGD:4892292 NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976
JBrowse link
G CD86 CD86 molecule severity
susceptibility
ISO protein:increased expression:lung, myeloid dendritic cell (human)
DNA:polymorphism:cds:g.1057G>A rs1129055 (human)
RGD PMID:19729666 PMID:20732370 RGD:4891504 RGD:4892292 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
JBrowse link
G CD8A CD8 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17950725 NCBI chr 3:57,999,228...58,029,768
Ensembl chr 3:57,998,891...58,029,760
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35303175 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:35303175 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854
JBrowse link
G CFTR CF transmembrane conductance regulator disease_progression ISO DNA:polymorphism:cds:p.M470V(human) RGD PMID:18652532 RGD:4140431 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G CHI3L1 chitinase 3 like 1 ISO protein:increased secretion:serum (human) RGD PMID:20656949 RGD:4892658 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 ISO RGD PMID:19281093 RGD:5133441 NCBI chr14:51,818,625...52,363,662
Ensembl chr14:51,828,231...51,830,003
JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit disease_progression
susceptibility
ISO associated with smoking; DNA:SNP: :rs1051730(human)
associated with smoking; DNA:SNP::rs1051730(human)
DNA:SNP: :rs12910984(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 chr 7:47,361,710...47,382,743
Ensembl chr 7:47,361,899...47,384,303
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 chr 7:47,382,860...47,425,871
Ensembl chr 7:47,383,792...47,425,841
JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit disease_progression ISO DNA:CNV:: CNV-3956(human) RGD PMID:25407004 RGD:11074492 NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123
JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 7:47,338,819...47,359,064 JBrowse link
G CLCA1 chloride channel accessory 1 severity ISO mRNA:increased expression:bronchus
DNA:SNPs: :multiple (human)
RGD PMID:14985398 PMID:17637221 RGD:1331524 RGD:4145655 NCBI chr 4:129,621,259...129,655,385
Ensembl chr 4:129,620,874...129,655,385
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO RGD PMID:15469929 RGD:5131854 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 treatment ISO DNA:SNP:intron: (rs242941) (human) RGD PMID:19210659 RGD:11097322 NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
JBrowse link
G CRP C-reactive protein, pentraxin-related severity ISO protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:21468168 PMID:21506665 PMID:29329563 RGD:5131278 RGD:5131279 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G CSF2 colony stimulating factor 2 ISO protein:increased expression:sputum RGD PMID:19213775 RGD:5131476 NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
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 chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:sputum RGD PMID:17925429 RGD:5135436 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 ISO protein:increased expression:sputum RGD PMID:17925429 RGD:5135436 NCBI chr 8:71,713,790...71,725,669
Ensembl chr 8:71,713,803...71,725,674
JBrowse link
G CXCL2 chemokine (C-X-C motif) ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23099361 NCBI chr 8:70,157,253...70,159,145
Ensembl chr 8:70,157,214...70,159,138
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15337792 PMID:23099361 PMID:28864214 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:sputum RGD PMID:17925429 PMID:19229703 RGD:4892070 RGD:5135436 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 severity ISO RGD PMID:12857718 RGD:5135248 NCBI chr15:120,219,657...120,230,203 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:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G CYBA cytochrome b-245 alpha chain susceptibility ISO DNA:polymorphism: :p.H72Y (human)
DNA:polymorphisms: :-930A>G, 242C>T (human)
RGD PMID:19567155 PMID:20080081 RGD:4293707 RGD:4304108 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420
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 chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
JBrowse link
G CYP19A3 cytochrome P450 19A3 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 severity
no_association
susceptibility
ISO DNA:polymorphism (human)
DNA:polymorphisms: :2455A>G, 3801T>C (human)
DNA:polymorphisms: :p.I462V, 3801T>C (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18389617 PMID:19022366 PMID:19507017 PMID:20080081 RGD:4293707 RGD:4892045 RGD:4892071 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
JBrowse link
G CYP1A2 cytochrome P450 family 1 subfamily A member 2 susceptibility ISO DNA:polymorphisms: :-3860G>A (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20080081 PMID:20797314 RGD:4293707 NCBI chr 7:58,779,529...58,786,155
Ensembl chr 7:58,779,475...58,786,100
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO DNA:polymorphisms: :-1293G>C, 7632T>A, 9893C>G (human) RGD PMID:17442289 RGD:4892219 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:44,375,432...44,394,122
Ensembl chr 2:44,375,520...44,396,334
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 7:120,658,781...120,695,031
Ensembl chr 7:120,661,111...120,695,016
JBrowse link
G CYP4A90 cytochrome P450 family 4 subfamily A member 90 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 6:128,704,964...128,722,878 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 chr 6:164,718,393...164,737,693
Ensembl chr 6:164,718,444...164,737,552
JBrowse link
G DDIT3 DNA damage inducible transcript 3 treatment ISO RGD PMID:24694971 RGD:13782182 NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829
JBrowse link
G DEFB1 defensin beta 1 no_association
susceptibility
ISO DNA:polymorphism (human)
DNA:SNPs: :multiple (human)
DNA:polymorphism: :668C>G (human)
RGD PMID:11829455 PMID:15569478 PMID:16700921 RGD:1331523 RGD:4892251 RGD:4892257
G DSP desmoplakin ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623
JBrowse link
G EDN1 endothelin 1 ISO DNA:insertion, transversion:5' utr, exon:c.138_139insA, p.K198N (human)
protein:increased expression:sputum (human)
RGD PMID:10445603 PMID:20707291 RGD:4144868 RGD:4145062 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific ISO CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr13:72,041,409...72,196,345
Ensembl chr13:72,020,305...72,195,930
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 chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
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 chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
JBrowse link
G ELN elastin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16081882 PMID:25106431 RGD:1580326 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897
JBrowse link
G EPHX1 epoxide hydrolase 1 susceptibility
no_association
ISO DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:SNP:exon:p.H139R (rs2234922) (human)
DNA:polymorphism
DNA:SNPs: :multiple (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9288046 PMID:17564249 PMID:18614560 PMID:18811882 PMID:20932192 RGD:1601065 RGD:4889120 RGD:4889121 RGD:4889122 RGD:4889123 NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,751,881...13,773,072
JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO protein:increased expression:lung RGD PMID:17908459 RGD:2289953 NCBI chr 5:21,474,218...21,495,040
Ensembl chr 5:21,474,475...21,495,038
JBrowse link
G F2 coagulation factor II, thrombin severity ISO RGD PMID:21660493 RGD:5147752 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
JBrowse link
G F2RL1 F2R like trypsin receptor 1 ISO RGD PMID:21245013 RGD:4892586 NCBI chr 2:85,732,082...85,747,552
Ensembl chr 2:85,732,189...85,750,858
JBrowse link
G FAIM2 Fas apoptotic inhibitory molecule 2 ISO RGD PMID:29208459 RGD:13792601 NCBI chr 5:15,779,329...15,813,029
Ensembl chr 5:15,779,334...15,812,543
JBrowse link
G FAM13A family with sequence similarity 13 member A susceptibility ISO DNA:SNP: :rs7671167 (human)
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease
RGD
ClinVar
PMID:25928290 RGD:11552597 NCBI chr 8:130,021,581...130,327,731
Ensembl chr 8:130,021,643...130,327,729
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:29208459 RGD:13792601 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
JBrowse link
G FASLG Fas ligand ISO RGD PMID:29208459 RGD:13792601 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:lung RGD PMID:15681497 RGD:5684420 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
JBrowse link
G FOXO3 forkhead box O3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23099361 NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
JBrowse link
G GC GC vitamin D binding protein ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar PMID:28492532 NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
JBrowse link
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 susceptibility ISO DNA:SNP: :rs8099939 RGD PMID:28900078 RGD:401900295 NCBI chr 6:49,840,671...49,901,656
Ensembl chr 6:49,845,656...49,902,080
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B susceptibility ISO DNA:SNP: :rs2268132 RGD PMID:28900078 RGD:401900295 NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,528...58,927,558
JBrowse link
G GZMA granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) ISO RGD PMID:20047264 RGD:5135520 NCBI chr16:34,282,160...34,290,422
Ensembl chr16:34,282,120...34,290,477
JBrowse link
G GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) ISO RGD PMID:20540777 RGD:5135516 NCBI chr 7:74,705,499...74,708,781
Ensembl chr 7:74,705,409...74,708,790
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 chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
JBrowse link
G HDAC8 histone deacetylase 8 severity ISO mRNA:decreased expression:lung (human) RGD PMID:15888697 RGD:13208820 NCBI chr  X:58,210,182...58,450,681
Ensembl chr  X:58,210,192...58,450,573
JBrowse link
G HHIP hedgehog interacting protein susceptibility ISO DNA:SNPs: :rs11100865, rs7654947(human)
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease, biomass related
DNA:SNP: :rs13118928(human)
RGD
ClinVar
PMID:19996190 PMID:25928290 RGD:11552597 RGD:11552598 NCBI chr 8:83,583,735...83,678,368
Ensembl chr 8:83,583,739...83,679,136
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752192 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
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:17203192 PMID:17254481 PMID:20705587 PMID:21088618 More... RGD:10755705 RGD:4145371 RGD:4145372
G HP haptoglobin ISO RGD PMID:21471098 RGD:5144151 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G HSPA1L heat shock protein family A (Hsp70) member 1 like ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 7:23,909,960...23,938,678
Ensembl chr 7:23,910,079...23,914,517
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 chr 2:135,345,724...135,391,112
Ensembl chr 2:135,345,867...135,391,108
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 chr11:20,555,939...20,620,225
Ensembl chr11:20,555,963...20,619,625
JBrowse link
G HYKK hydroxylysine kinase ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 7:47,451,822...47,474,778
Ensembl chr 7:47,449,036...47,474,648
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:decreased expression:airway epithelium (mouse)
mRNA:increased expression:airway epithelial cell (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18794286 PMID:20395558 PMID:29329563 RGD:4145446 RGD:4145522 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IL12B interleukin 12B ISO DNA:polymorphism: : RGD PMID:19279357 RGD:4145423 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,143,268...64,158,929
JBrowse link
G IL13 interleukin 13 no_association
susceptibility
ISO 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:15308043 PMID:15820084 PMID:19796199 PMID:19995275 RGD:4145596 RGD:4145601 RGD:4145668 RGD:4145714 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
JBrowse link
G IL13RA1 interleukin 13 receptor subunit alpha 1 ISO DNA:SNP: :rs2250747 (human) RGD PMID:19796199 RGD:4145601 NCBI chr  X:97,300,960...97,353,754
Ensembl chr  X:97,300,466...97,356,133
JBrowse link
G IL16 interleukin 16 ISO protein:increased expression:lung RGD PMID:20079227 RGD:5024924 NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,973,938...50,102,346
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:lung, bronchioalveolar lavage fluid (rat)
protein:increased expression:respiratory mucosa
RGD PMID:16200865 PMID:19604272 RGD:4889104 RGD:9068943 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
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 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL18BP interleukin 18 binding protein ISO protein:increased expression:serum RGD PMID:20026745 RGD:4889551 NCBI chr 9:6,586,602...6,596,423
Ensembl chr 9:6,488,808...6,591,333
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 ISO mRNA:increased expression:lung: RGD PMID:19927353 PMID:30952808 RGD:40400740 RGD:5144227 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
JBrowse link
G IL1RN interleukin 1 receptor antagonist no_association
susceptibility
ISO protein:decreased expression:plasma
DNA:polymorphism (human)
DNA:polymorphism:intron (human)
RGD PMID:18364273 PMID:18579366 PMID:19291375 RGD:4142861 RGD:4142866 RGD:4142868
G IL27 interleukin 27 ISO DNA:polymorphisms: :-964A>G, 2905T>G (human) RGD PMID:18554158 RGD:5128484 NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
JBrowse link
G IL33 interleukin 33 ISO mRNA,protein:increased expression:lung: RGD PMID:30952808 RGD:40400740 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G IL5 interleukin 5 ISO protein:increased expression:serum RGD PMID:20858153 RGD:4890939 NCBI chr 2:134,832,143...134,846,141
Ensembl chr 2:134,832,147...134,835,212
JBrowse link
G IL5RA interleukin 5 receptor subunit alpha ISO protein:increased expression:serum RGD PMID:15286446 RGD:5128619 NCBI chr13:59,651,184...59,692,211
Ensembl chr13:59,652,271...59,690,176
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
CTD
RGD
PMID:20819268 PMID:28864214 PMID:29329563 PMID:31349846 RGD:4143243 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G IL9 interleukin 9 ISO protein:increased expression:sputum, macrophage, cytoplasm RGD PMID:15303135 RGD:5128691 NCBI chr 2:138,048,943...138,052,588
Ensembl chr 2:138,048,943...138,052,588
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 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:lung RGD PMID:15681497 RGD:5684420 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
JBrowse link
G KLF5 KLF transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30639269 NCBI chr11:45,370,009...45,386,673
Ensembl chr11:45,369,810...45,388,314
JBrowse link
G LEP leptin severity ISO protein:decreased expression:serum
protein:increased expression:plasma
DNA:polymorphism:promoter: -2548 G>A (human)
RGD PMID:20021311 PMID:20854423 PMID:21367591 RGD:5128772 RGD:5128777 RGD:5128778 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
JBrowse link
G LEPR leptin receptor disease_progression ISO protein:decreased expression:lung
DNA:SNPs: :
RGD PMID:19196818 RGD:5128813 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995
JBrowse link
G LOC100739508 glutathione S-transferase P-like no_association
susceptibility
ISO DNA:polymorphism:exon:p.I105V (human)
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to
RGD
ClinVar
PMID:17439673 PMID:20467983 PMID:25741868 RGD:4140938 RGD:4142514 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOC110258578 interleukin-1 beta-like no_association
severity
susceptibility
ISO DNA:polymorphism: :-31T>C (human)
DNA:polymorphisms: :-31T>C, -511C>T (human)
DNA:polymorphisms: :-31T>C, 3953T>C (human)
DNA:polymorphisms: :-31T>C, 3954T>C (human)
RGD PMID:15766560 PMID:17380888 PMID:18364273 PMID:18579366 RGD:4142866 RGD:4142868 RGD:4142873 RGD:4143169
G LOC110261221 cytochrome P450 2J2-like ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 6:152,321,816...152,358,179
Ensembl chr 6:152,321,848...152,648,979
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 chr15:9,612,805...11,499,969
Ensembl chr15:9,613,238...11,499,530
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 severity ISO RGD PMID:20699612 RGD:5490968 NCBI chr12:56,402,029...56,516,217
Ensembl chr12:56,402,075...56,516,238
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 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057
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 chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874
JBrowse link
G MBL2 mannose binding lectin 2 ISO protein:decreased secretion:lung (human)
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD PMID:19411612 PMID:20688922 RGD:4889421 RGD:4889448 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G MCAM melanoma cell adhesion molecule ISO RGD PMID:23649916 RGD:7364780 NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083
JBrowse link
G MGST1 microsomal glutathione S-transferase 1 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 5:56,259,566...56,283,823
Ensembl chr 5:56,259,557...56,283,965
JBrowse link
G MGST3 microsomal glutathione S-transferase 3 ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar NCBI chr 4:85,069,603...85,095,022
Ensembl chr 4:85,069,607...85,094,981
JBrowse link
G MIF macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26752192 NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
JBrowse link
G MIR126 microRNA mir-126 ISO RNA:decreased expression:lung RGD PMID:36522710 RGD:401850545
G MIR218B microRNA mir-218b ISO CTD Direct Evidence: marker/mechanism CTD PMID:28864214 NCBI chr16:55,115,926...55,116,009
Ensembl chr16:55,115,926...55,116,009
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 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
JBrowse link
G MMP14 matrix metallopeptidase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19661247 NCBI chr 7:76,174,502...76,185,931
Ensembl chr 7:76,172,971...76,185,928
JBrowse link
G MMP9 matrix metallopeptidase 9 susceptibility
treatment
severity
ISO DNA:polymorphism: :-1562C-->T (human)
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:-1562C-->T (human)
RGD
CTD
PMID:18619044 PMID:19299917 PMID:19411568 PMID:20160424 PMID:25842729 RGD:13207319 RGD:5129494 RGD:5129553 RGD:5130149 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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 chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
JBrowse link
G MTCL1 microtubule crosslinking factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28166215 NCBI chr 6:99,062,347...99,178,570
Ensembl chr 6:99,062,354...99,178,468
JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:sputum (human) RGD PMID:21474912 RGD:5131160 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming treatment ISO mRNA, protein:increased expression:lung
protein:increased expression:bronchi
RGD PMID:17637221 PMID:19723147 PMID:22282955 RGD:4145655 RGD:5131190 RGD:7349406 NCBI chr 2:757,897...790,321 JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO protein:increased expression:sputum RGD PMID:18776153 RGD:5131169 NCBI chr 2:807,685...842,096 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 chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 severity ISO DNA:SNP:intron: (rs1077861) (human) RGD PMID:21943069 RGD:5508720 NCBI chr 6:34,132,127...34,167,446
Ensembl chr 6:34,130,938...34,177,534
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 chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:lung
CTD
RGD
PMID:12797490 PMID:21843929 RGD:4891444 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21843929 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 treatment
susceptibility
ISO protein, mRNA:decreased expression:lung
DNA:polymorphisms: :465C>T, 609C>T (human)
RGD PMID:18556627 PMID:19705749 PMID:28790194 RGD:13439712 RGD:5133267 RGD:5134980 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590
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 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451
JBrowse link
G NTF3 neurotrophin 3 ISO mRNA:decreased expression:bronchus RGD PMID:15843147 RGD:4891120 NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,519...65,123,788
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO protein:increased expression:bronchiolar epithelial cell RGD PMID:21429417 RGD:5684530 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981
JBrowse link
G OBP2B odorant binding protein 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28381600 NCBI chr 1:272,886,871...272,890,537 JBrowse link
G PDE3B phosphodiesterase 3B ISO ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:44,416,934...44,614,075
Ensembl chr 2:44,412,833...44,726,216
JBrowse link
G PLAU plasminogen activator, urokinase severity ISO protein:increased expression:sputum, neutrophil RGD PMID:17651644 PMID:20624254 RGD:6483803 RGD:6484146 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
JBrowse link
G PLAUR plasminogen activator, urokinase receptor ISO protein:increased expression:bronchus RGD PMID:17651644 RGD:6484146 NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased activity:serum (human) RGD PMID:16380766 RGD:8547571 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:20732852 RGD:6484530 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
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 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363678 NCBI chr 5:78,101,286...78,134,150
Ensembl chr 5:78,101,299...78,134,105
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:34331613 RGD:155663371 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
JBrowse link
G RNASEL ribonuclease L ISO RGD PMID:23913960 RGD:40902622 NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ameliorates ISO DNA:SNP:cds:rs4809324 (human) RGD PMID:28360516 RGD:152985694 NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690
JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 2:9,297,282...9,302,204
Ensembl chr 2:9,297,283...9,302,165
JBrowse link
G SELP selectin P severity ISO protein:increased expression:plasma RGD PMID:20646456 RGD:6478682 NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955
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 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645
JBrowse link
G SERPINA3-2 alpha-1-antichymotrypsin 2 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 7:115,978,453...115,987,392
Ensembl chr 7:115,976,397...115,987,453
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 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
JBrowse link
G SFTPA1 surfactant protein A1 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 chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
JBrowse link
G SFTPB surfactant protein B susceptibility
severity
ISO DNA:polymorphism: :1580C>T (human)
DNA:SNP: :p.T131I (rs1130866) (human)
DNA:SNPs: :multiple (human)
RGD PMID:11589345 PMID:15315329 PMID:15817713 PMID:18550614 RGD:4143290 RGD:4143396 RGD:4143402 RGD:4143423 NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,981...59,112,396
JBrowse link
G SFTPC surfactant protein C disease_progression ISO DNA:polymorphism: :186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
JBrowse link
G SFTPD surfactant protein D severity
susceptibility
ISO protein:increased expression:serum
DNA:SNPs: :multiple (human)
CTD Direct Evidence: marker/mechanism
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 chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
JBrowse link
G SLC22A4 solute carrier family 22 member 4 treatment ISO RGD PMID:32707498 RGD:597538521 NCBI chr 2:134,594,843...134,641,403
Ensembl chr 2:134,595,584...134,639,777
JBrowse link
G SLC22A5 solute carrier family 22 member 5 treatment ISO RGD PMID:32707498 RGD:597538521 NCBI chr 2:134,660,741...134,847,575
Ensembl chr 2:134,660,808...134,686,219
JBrowse link
G SLC6A4 solute carrier family 6 member 4 susceptibility ISO DNA:SNP: :rs2020936 (human) RGD PMID:20981038 RGD:4889426 NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378
JBrowse link
G SLPI secretory leukocyte peptidase inhibitor treatment ISO RGD PMID:18375249 RGD:9999419 NCBI chr17:47,595,804...47,598,364
Ensembl chr17:47,595,803...47,598,387
JBrowse link
G SMAD4 SMAD family member 4 treatment ISO RGD PMID:18375249 RGD:9999419 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029
JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISO protein:increased expression:lung: RGD PMID:20448054 RGD:10041059 NCBI chr 6:28,938,287...29,025,397
Ensembl chr 6:28,938,290...29,025,357
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 8:18,796,633...18,802,156
Ensembl chr 8:18,796,637...18,802,152
JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO protein:increased expression:lung RGD PMID:24321062 RGD:8661725 NCBI chr15:95,656,206...95,764,099
Ensembl chr15:95,656,077...95,763,472
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 2:141,359,402...141,367,222
Ensembl chr 2:141,358,993...141,367,198
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 1:16,533,364...16,611,879
Ensembl chr 1:16,533,285...16,611,884
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 chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TGFB1 transforming growth factor beta 1 no_association
susceptibility
ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms: :509C>T, 869T>C (human)
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 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:25842729 RGD:13207319 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296
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 chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
G TNF tumor necrosis factor disease_progression
no_association
ISO DNA:polymorphism:promoter
CTD Direct Evidence: marker/mechanism
DNA;polymorphism: :rs361525 (human)
protein:increased expression:serum
DNA:SNPs:promoter
DNA:SNP:promoter:c.-308 G>A (human)
DNA:polymorphism: :c. 489G>A (human)
protein:increased expression:sputum
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 chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A severity ISO protein:increased expression:plasma (human) RGD PMID:19643942 RGD:5131203 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B severity ISO protein:increased expression:sputum (human) RGD PMID:21037022 RGD:5131154 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29984229 NCBI chr 6:72,103,309...72,174,882 JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29984229 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
JBrowse link
G TNNT2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:18068611 NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396
JBrowse link
G TOLLIP toll interacting protein ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 2:852,198...864,337
Ensembl chr 2:851,512...864,483
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17274270 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245013 NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
JBrowse link
G VDR vitamin D receptor ISO ClinVar Annotator: match by term: Chronic obstructive pulmonary disease ClinVar NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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 chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
JBrowse link
G XRCC5 X-ray repair cross complementing 5 susceptibility ISO DNA:SNPs:multiple (human) RGD PMID:20463177 RGD:8698653 NCBI chr15:118,354,943...118,451,974
Ensembl chr15:118,354,796...118,451,960
JBrowse link
Chronic Bronchitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL11 chemokine (C-C motif) ligand 11 ISO RGD PMID:11991282 RGD:4145442 NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
JBrowse link
G CFTR CF transmembrane conductance regulator susceptibility ISO DNA:deletion: :F508del(human)
associated with pulmonary disease chronic obstructive; DNA:missense mutation:exon:p.R75Q(human)
RGD PMID:10767489 PMID:15463907 RGD:4140475 RGD:4140484 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO DNA:SNPs: :multiple (human) RGD PMID:19386687 RGD:4891509 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 susceptibility ISO DNA:polymorphism (human) RGD PMID:15928955 RGD:4142512 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,802,887...58,809,775
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO DNA:polymorphism (human) RGD PMID:14593914 RGD:4889126 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
JBrowse link
G EDN1 endothelin 1 ISO Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse) RGD PMID:18631350 RGD:4145074 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G GC GC vitamin D binding protein susceptibility ISO RGD PMID:12096683 RGD:5129516 NCBI chr 8:68,326,293...68,360,262
Ensembl chr 8:68,326,299...68,360,262
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:bronchial epithelium (rat) RGD PMID:19507274 RGD:2308951 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IL10 interleukin 10 ISO protein:decreased expression:lung RGD PMID:19507274 RGD:2308951 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G IL13 interleukin 13 ISO protein:increased expression:Respiratory Mucosa RGD PMID:14582911 RGD:4759835 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
JBrowse link
G IL15 interleukin 15 ISO mRNA, protein:increased expression:lung RGD PMID:11742275 RGD:4990461 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
JBrowse link
G MPO myeloperoxidase ISO protein:increased expression:lung RGD PMID:11798689 RGD:5130990 NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
JBrowse link
G NOS2 nitric oxide synthase 2 ISO RGD PMID:19938219 RGD:4891494 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
JBrowse link
G NPY neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:9731035 NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19263519 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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 chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30659203 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
JBrowse link
G ALB albumin ISO RGD PMID:24365562 RGD:11035274 NCBI chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,721,696
JBrowse link
G AMCF-II alveolar macrophage-derived chemotactic factor-II ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr 8:70,008,225...70,010,360
Ensembl chr 8:70,008,162...70,010,358
JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISO OMIM:130700 MouseDO NCBI chr 1:126,168,944...126,184,813
Ensembl chr 1:126,165,994...126,184,858
JBrowse link
G CCL11 chemokine (C-C motif) ligand 11 disease_progression ISO associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:lung RGD PMID:17983873 RGD:4145393 NCBI chr12:40,779,906...40,782,862
Ensembl chr12:40,779,173...40,782,893
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 disease_progression ISO associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:sputum RGD PMID:20966041 RGD:4891458 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO mRNA, protein:increased expression:lung (mouse)
protein:increased expression:lung, lymphocyte (human)
RGD PMID:15526056 PMID:16284650 PMID:17883726 RGD:4892090 RGD:4892098 RGD:4892104 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
JBrowse link
G CHI3L1 chitinase 3 like 1 ISO RGD PMID:20656949 RGD:4892658 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
JBrowse link
G CLPTM1L CLPTM1 like severity ISO associated with smoking; DNA:SNP:intron:rs31489(human) RGD PMID:21622582 RGD:150530642 NCBI chr16:79,237,000...79,248,503
Ensembl chr16:79,237,061...79,248,500
JBrowse link
G CSF3 colony stimulating factor 3 treatment ISO RGD PMID:19537526 RGD:11039438 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:18772344 RGD:4891888 NCBI chr 6:19,312,351...19,324,439 JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15526056 RGD:4892104 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G DEFB1 defensin beta 1 ISO mRNA:decreased expression:lung RGD PMID:18699806 RGD:4892249
G EDNRA endothelin receptor type A ISO RGD PMID:19897563 RGD:4892307 NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853
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 chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
JBrowse link
G ELANE elastase, neutrophil expressed ISO RGD PMID:12186827 RGD:10450557 NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027
JBrowse link
G ELN elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897
JBrowse link
G EPHX1 epoxide hydrolase 1 no_association
susceptibility
ISO associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human)
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:p.Y113H (rs1051740) (human)
RGD
CTD
PMID:9288046 PMID:10853854 PMID:12579334 PMID:20525719 RGD:1601065 RGD:4140935 RGD:4889405 RGD:4889406 NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,751,881...13,773,072
JBrowse link
G FGA fibrinogen alpha chain ISO protein:increased expression:plasma (rat) RGD PMID:20949089 RGD:11040553 NCBI chr 8:74,574,870...74,584,202
Ensembl chr 8:74,574,882...74,584,202
JBrowse link
G FSTL1 follistatin like 1 ISO OMIM:130700 MouseDO NCBI chr13:139,847,246...139,901,972
Ensembl chr13:139,847,438...139,901,965
JBrowse link
G FUT8 fucosyltransferase 8 ISO OMIM:130700 MouseDO NCBI chr 7:89,395,637...89,680,502
Ensembl chr 7:89,519,730...89,680,489
JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO RGD PMID:19879314 RGD:5134681 NCBI chr 7:27,209,565...27,253,535
Ensembl chr 7:27,209,565...27,253,530
JBrowse link
G GSTM3 glutathione S-transferase mu 3 ISO RGD PMID:19723343 RGD:5135041 NCBI chr 4:110,330,027...110,332,957
Ensembl chr 4:110,330,028...110,332,962
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 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
JBrowse link
G HHIP hedgehog interacting protein ISO DNA:haplotype insufficiency: : RGD PMID:25763110 RGD:11552596 NCBI chr 8:83,583,735...83,678,368
Ensembl chr 8:83,583,739...83,679,136
JBrowse link
G HMOX1 heme oxygenase 1 susceptibility ISO DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10631150 RGD:1601606
G IL13 interleukin 13 ISO RGD PMID:11067861 RGD:4145652 NCBI chr 2:134,972,099...134,976,672
Ensembl chr 2:134,972,623...134,975,093
JBrowse link
G IL17RA interleukin 17 receptor A ISO RGD PMID:21647421 RGD:5144212 NCBI chr 5:69,461,280...69,480,343
Ensembl chr 5:69,461,290...69,480,112
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 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G IL1RL1 interleukin 1 receptor like 1 treatment ISO associated with common cold; RGD PMID:30952808 RGD:40400740 NCBI chr 3:51,868,549...51,902,454
Ensembl chr 3:51,846,792...51,951,383
JBrowse link
G ITGB6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism
OMIM:130700
CTD
RGD
MouseDO
PMID:12634787 RGD:737734 NCBI chr15:67,041,516...67,175,409
Ensembl chr15:67,041,522...67,175,234
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO OMIM:130700 MouseDO NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
JBrowse link
G KEAP1 kelch like ECH associated protein 1 onset ISO protein:increased expression:lung (human) RGD PMID:18559366 PMID:19520915 RGD:5134973 RGD:6893395 NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,294,382
JBrowse link
G KL klotho ISO OMIM:130700 MouseDO NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228
JBrowse link
G LOC100739508 glutathione S-transferase P-like ISO associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP (human) RGD PMID:20525719 RGD:4140935 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOX lysyl oxidase ISO ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:125,595,115...125,607,026
Ensembl chr 2:125,591,789...125,607,594
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:17363767 RGD:4890375 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
JBrowse link
G MMP12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12634787 PMID:25106431 NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679
JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased activity:lung
CTD
RGD
PMID:19897563 PMID:25106431 RGD:4892307 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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 chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISO OMIM:130700 MouseDO NCBI chr 2:6,462,825...6,470,780
Ensembl chr 2:6,463,413...6,469,112
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO protein:decreased expression:lung: RGD PMID:18559366 RGD:5134973 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO RGD PMID:20472710 RGD:4891488 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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 chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA,protein:increased expression:lung RGD PMID:20956973 RGD:4891415 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO mRNA:decreased expression:lung RGD PMID:18559366 RGD:5134973 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590
JBrowse link
G PGF placental growth factor ISO mRNA, protein:increased expression:lung, plasma RGD PMID:17023518 RGD:5135245 NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23144332 RGD:7242020 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:20472710 RGD:4891488 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
JBrowse link
G PTMA prothymosin alpha ISO OMIM:130700 MouseDO NCBI chr15:132,353,763...132,361,442
Ensembl chr15:132,355,655...132,361,435
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27982104 NCBI chr 3:22,832,259...22,902,592
Ensembl chr 3:22,832,262...22,902,063
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 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645
JBrowse link
G SFTPC surfactant protein C susceptibility ISO DNA:polymorphism: :138A>C, 186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
JBrowse link
G SMO smoothened, frizzled class receptor ISO OMIM:130700 MouseDO NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898
JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISO protein:increased expression:lung: RGD PMID:20448054 RGD:10041059 NCBI chr 6:28,938,287...29,025,397
Ensembl chr 6:28,938,290...29,025,357
JBrowse link
G SRFBP1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:125,507,744...125,574,751
Ensembl chr 2:125,507,837...125,575,679
JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:19445658 RGD:5147818 NCBI chr 3:67,839,367...68,021,733
Ensembl chr 3:67,839,411...68,021,724
JBrowse link
G TGFB1 transforming growth factor beta 1 severity ISO associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs:promoter:rs1800469, rs1982073 (human)
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:12634787 PMID:18670143 RGD:4145272 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression:alveolar macrophage RGD PMID:18399852 RGD:4145342 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR4 toll like receptor 4 ISO OMIM:130700 RGD
MouseDO
PMID:17053835 RGD:4144170 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15437
    disease of anatomical entity 15106
      respiratory system disease 4878
        lower respiratory tract disease 2228
          lung disease 2192
            obstructive lung disease 455
              chronic obstructive pulmonary disease 233
                Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome 0
                Chronic Bronchitis 15
                Mucus Inspissation of Respiratory Tract 0
                pulmonary emphysema + 64
paths to the root