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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:Emphysema
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Accession:DOID:9002884 term browser browse the term
Definition:A pathological accumulation of air in tissues or organs.
Synonyms:related_synonym: Emphysema, susceptibility to;   PI I;   PI M(MALTON);   PI M(MINERAL SPRINGS);   PI M(PROCIDA);   PI NULL(Hong Kong 1);   PI Q0(Hong Kong 1);   PI S
 xref: MESH:D004646


show annotations for term's descendants           Sort by:
Emphysema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26780485 NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:24096154 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:21573156 RGD:6483458 NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: therapeutic CTD PMID:29078374 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412 		JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
G Fbn1 fibrillin 1 ISO associated with Marfan Syndrome RGD PMID:12598898 RGD:1300319 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Hdac2 histone deacetylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24040961 NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609 		JBrowse link
G Il17a interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27380433 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9363890 PMID:9363890 RGD:10403047 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Mcam melanoma cell adhesion molecule IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:23649916 RGD:7364780 NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571 		JBrowse link
G Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO CTD Direct Evidence: therapeutic CTD PMID:33660100 NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:intron:snp:IVS1+18C>T rs470358 (human) RGD PMID:19293200 RGD:4890371 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP RGD PMID:22633097 RGD:13207325 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20133372 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24465666 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A IEP mRNA:increased expression:lung (rat) RGD PMID:22675432 RGD:9999407 NCBI chr 1:96,000,053...96,003,128
Ensembl chr 1:96,000,058...96,003,171 		JBrowse link
G Ppp2r2a protein phosphatase 2, regulatory subunit B, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22223484 NCBI chr15:41,204,659...41,263,924
Ensembl chr15:41,204,200...41,263,924 		JBrowse link
G Ppp2r2c protein phosphatase 2, regulatory subunit B, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:22223484 NCBI chr14:73,846,547...73,931,489
Ensembl chr14:73,846,547...73,931,864 		JBrowse link
G Ppp2r5a protein phosphatase 2, regulatory subunit B', alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22223484 NCBI chr13:102,931,264...102,975,661
Ensembl chr13:102,931,264...102,975,661 		JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PI I | ClinVar Annotator: match by term: PI M(MINERAL SPRINGS) | ClinVar Annotator: match by term: PI M(PROCIDA) | ClinVar Annotator: match by term: PI S		 CTD
ClinVar		 PMID:301355 PMID:1082356 PMID:1504305 PMID:1889260 PMID:1967187 More... NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment IEP RGD PMID:22633097 RGD:13207325 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:15805183 RGD:4143415 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:29984229 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22276220 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
alpha 1-antitrypsin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency ClinVar PMID:15657616 PMID:18157129 PMID:19321599 PMID:20301755 PMID:22773132 More... NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
G Serpina1 serpin family A member 1 treatment ISO ClinVar Annotator: match by term: AAT deficiency | ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency | ClinVar Annotator: match by term: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | ClinVar Annotator: match by term: PI NULL(PROCIDA) | ClinVar Annotator: match by term: PI Q0(BELLINGHAM) | ClinVar Annotator: match by term: PI Q0(GRANITE FALLS) | ClinVar Annotator: match by term: PI Q0(LUDWIGSHAFEN) | ClinVar Annotator: match by term: PI Q0(NEWPORT) | ClinVar Annotator: match by term: PI S(IIYAMA) | ClinVar Annotator: match by term: PI W(BETHESDA) | ClinVar Annotator: match by term: PI Z(BRISTOL) | ClinVar Annotator: match by term: SERPINA1-related condition
DNA:polymorphisms:cds:
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:301355 PMID:412531 PMID:1082356 PMID:1504305 PMID:1552539 More... RGD:14695049, RGD:14695047 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30659203 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Alb albumin ISO RGD PMID:24365562 RGD:11035274 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISS OMIM:130700 MouseDO NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 disease_progression ISO associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:lung RGD PMID:17983873 RGD:4145393 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		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:16284650 PMID:17883726 PMID:15526056 RGD:4892098, RGD:4892090, RGD:4892104 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO RGD PMID:20656949 RGD:4892658 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Clptm1l CLPTM1-like severity ISO associated with smoking; DNA:SNP:intron:rs31489(human) RGD PMID:21622582 RGD:150530642 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530 		JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:19537526 RGD:11039438 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:18772344 RGD:4891888 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15526056 RGD:4892104 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Defb1 defensin beta 1 ISO mRNA:decreased expression:lung RGD PMID:18699806 RGD:4892249 NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604 		JBrowse link
G Ednra endothelin receptor type A IMP RGD PMID:19897563 RGD:4892307 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049 		JBrowse link
G Egr1 early growth response 1 resistance ISO mRNA, protein:increased expression:lung (human)
associated with Tobacco Use Disorder;protein:increased expression:lung, epithelial cell (mouse)		 RGD PMID:11021835 PMID:18830406 PMID:16601242 RGD:5131973, RGD:5131853, RGD:5131892 NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Elane elastase, neutrophil expressed IMP RGD PMID:12186827 RGD:10450557 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Ephx1 epoxide hydrolase 1 susceptibility
no_association		 ISO associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:p.Y113H (rs1051740) (human)
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)		 CTD
RGD		 PMID:9288046 PMID:20525719 PMID:12579334 PMID:9288046 PMID:10853854 RGD:4140935, RGD:4889405, RGD:1601065, RGD:4889406 NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Fga fibrinogen alpha chain IEP protein:increased expression:plasma (rat) RGD PMID:20949089 RGD:11040553 NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528 		JBrowse link
G Fstl1 follistatin-like 1 ISS OMIM:130700 MouseDO NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677 		JBrowse link
G Fut8 fucosyltransferase 8 ISS OMIM:130700 MouseDO NCBI chr 6:95,949,246...96,176,677
Ensembl chr 6:95,949,991...96,176,677 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit IDA RGD PMID:19879314 RGD:5134681 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:20495862 RGD:4140927 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:19723343 RGD:5135041 NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:19723343 RGD:5135041 NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP (human) RGD PMID:20525719 RGD:4140935 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Hdac2 histone deacetylase 2 treatment IEP
ISO		 mRNA,proetin:increased expression,increased activity,hyperphosphorylation,hypercarbonylation:lung: RGD PMID:23326540 PMID:24040961 RGD:9590245, RGD:9590320 NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609 		JBrowse link
G Hhip Hedgehog-interacting protein ISO DNA:haplotype insufficiency: : RGD PMID:25763110 RGD:11552596 NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528 		JBrowse link
G Hmox1 heme oxygenase 1 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10631150 PMID:10631150 RGD:1601606 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Il13 interleukin 13 ISO RGD PMID:11067861 RGD:4145652 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il17ra interleukin 17 receptor A ISO RGD PMID:21647421 RGD:5144212 NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174 		JBrowse link
G Il18 interleukin 18 ISO
IEP		 mRNA, protein:increased expression:respiratory system fluid/secretion, macrophage RGD PMID:17400729 PMID:23392573 RGD:4889590, RGD:8655969 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 treatment ISO associated with common cold; RGD PMID:30952808 RGD:40400740 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Itgb6 integrin subunit beta 6 ISO
ISS		 OMIM:130700
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:12634787 PMID:12634787 RGD:737734 NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISS OMIM:130700 MouseDO NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656 		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 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862 		JBrowse link
G Kl Klotho ISS OMIM:130700 MouseDO NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:17363767 RGD:4890375 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12634787 PMID:25106431 NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP
ISO		 protein:increased activity:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25106431 PMID:19897563 RGD:4892307 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP
ISO		 protein:increased activity:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25106431 PMID:19897563 PMID:14605041 PMID:18408070 RGD:4892307, RGD:8547887, RGD:5130151 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISS OMIM:130700 MouseDO NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO protein:decreased expression:lung: RGD PMID:18559366 RGD:5134973 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nfkbia NFKB inhibitor alpha treatment IDA RGD PMID:20472710 RGD:4891488 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP
ISO		 protein:increased expression:lung
mRNA,protein:increased expression:lung		 RGD PMID:20472710 PMID:22000010 PMID:20956973 RGD:4891488, RGD:5509103, RGD:4891415 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO mRNA,protein:increased expression:lung RGD PMID:20956973 RGD:4891415 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO mRNA:decreased expression:lung RGD PMID:18559366 RGD:5134973 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Pgf placental growth factor ISO mRNA, protein:increased expression:lung, plasma RGD PMID:17023518 RGD:5135245 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23144332 RGD:7242020 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:20472710 RGD:4891488 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptma prothymosin alpha ISS OMIM:130700 MouseDO NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27982104 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:3485249 PMID:21030517 PMID:19941265 RGD:4892126, RGD:4892125 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Sftpc surfactant protein C susceptibility ISO DNA:polymorphism: :138A>C, 186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G Smo smoothened, frizzled class receptor ISS OMIM:130700 MouseDO NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISO protein:increased expression:lung: RGD PMID:20448054 RGD:10041059 NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749 		JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr18:45,920,389...45,945,385
Ensembl chr18:45,920,446...45,942,515 		JBrowse link
G Tacr1 tachykinin receptor 1 ISO RGD PMID:19445658 RGD:5147818 NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs:promoter:rs1800469, rs1982073 (human)
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:12634787 PMID:18670143 RGD:4145272 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:alveolar macrophage RGD PMID:18399852 RGD:4145342 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr4 toll-like receptor 4 ISO
ISS		 OMIM:130700 MouseDO
RGD		 PMID:17053835 RGD:4144170 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Pathologic Processes 8240
        Emphysema 85
          Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 0
          Congenital Hemolytic Anemia with Emphysema and Cutis Laxa 0
          Mediastinal Emphysema 0
          Subcutaneous Emphysema + 2
          pulmonary emphysema + 68
paths to the root