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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
 primary_id: MESH:D004646;   RDO:0005460
For additional species annotation, visit the Alliance of Genome Resources.


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 chr10:13,723,365...13,780,558
Ensembl chr10:13,723,405...13,779,963
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:24096154 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Cd46 CD46 molecule ISO RGD PMID:21573156 RGD:6483458 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: therapeutic CTD PMID:29078374 NCBI chr 1:91,363,492...91,366,164
Ensembl chr 1:91,363,492...91,366,164
JBrowse link
G Dhx34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Emphysema ClinVar NCBI chr 1:78,069,260...78,112,488
Ensembl chr 1:78,090,044...78,112,488
JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
G Fbn1 fibrillin 1 ISO associated with Marfan Syndrome RGD PMID:12598898 RGD:1300319 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:9363890, PMID:9363890 RGD:10403047 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Emphysema ClinVar PMID:25741868 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Mcam melanoma cell adhesion molecule IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:23649916 RGD:7364780 NCBI chr 8:48,472,824...48,481,005
Ensembl chr 8:48,472,824...48,481,001
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:intron:snp:IVS1+18C>T rs470358 (human) RGD PMID:19293200 RGD:4890371 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP RGD PMID:22633097 RGD:13207325 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20133372 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24465666 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A IEP mRNA:increased expression:lung (rat) RGD PMID:22675432 RGD:9999407 NCBI chr 1:101,511,899...101,515,043
Ensembl chr 1:101,511,901...101,514,974
JBrowse link
G Ppp2r2a protein phosphatase 2, regulatory subunit B, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22223484 NCBI chr15:43,673,958...43,733,182
Ensembl chr15:43,673,960...43,733,182
JBrowse link
G Ppp2r2c protein phosphatase 2, regulatory subunit B, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:22223484 NCBI chr14:78,679,214...78,763,175
Ensembl chr14:78,679,214...78,902,063
JBrowse link
G Ppp2r5a protein phosphatase 2, regulatory subunit B', alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22223484 NCBI chr13:110,033,550...110,077,946
Ensembl chr13:110,033,550...110,077,946
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PI S
ClinVar Annotator: match by term: PI I
ClinVar Annotator: match by term: PI M(PROCIDA)
ClinVar Annotator: match by term: PI M(MINERAL SPRINGS)
CTD
ClinVar
PMID:301355, PMID:1082356, PMID:1504305, PMID:1889260, PMID:1967187, PMID:2567291, PMID:2606478, PMID:2696185, PMID:3262617, PMID:3496639, PMID:6093867, PMID:6602622, PMID:8970361, PMID:9635295, PMID:10194472, PMID:14767073, PMID:14985567, PMID:15711957, PMID:15978931, PMID:15994391, PMID:16608528, PMID:17964515, PMID:18024524, PMID:18515255, PMID:18565211, PMID:18566672, PMID:19956452, PMID:20301692, PMID:20981092, PMID:21752289, PMID:22426792, PMID:22912357, PMID:22933512, PMID:22975760, PMID:23632999, PMID:23837941, PMID:24033266, PMID:24055113, PMID:24713750, PMID:25391508, PMID:25454901, PMID:25579632, PMID:25741868, PMID:26141072, PMID:26672964, PMID:26831755, PMID:26987331, PMID:27296815, PMID:27465791, PMID:28492532, PMID:30585791 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Emphysema ClinVar PMID:25741868 NCBI chr18:47,456,406...47,478,967
Ensembl chr18:47,456,327...47,480,587
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment IEP RGD PMID:22633097 RGD:13207325 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:15805183 RGD:4143415 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: therapeutic CTD PMID:29984229 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22276220 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
alpha 1-antitrypsin deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpina1 serpin family A member 1 treatment ISO ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
ClinVar Annotator: match by term: PI Q0(CARDIFF)
ClinVar Annotator: match by term: PI Q0(BELLINGHAM)
ClinVar Annotator: match by term: PI M(NICHINAN)
DNA:polymorphisms:cds:
ClinVar Annotator: match by term: PI Q0(LUDWIGSHAFEN)
ClinVar Annotator: match by term: PI M(HEERLEN)
ClinVar Annotator: match by OMIM:613490
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alpha-1 Antitrypsin Deficiency
OMIM
ClinVar
CTD
PMID:301355, PMID:412531, PMID:1082356, PMID:1504305, PMID:1569192, PMID:1608473, PMID:1730596, PMID:1889260, PMID:1905728, PMID:1967187, PMID:1975477, PMID:2035534, PMID:2185272, PMID:2227940, PMID:2240842, PMID:2254451, PMID:2309708, PMID:2339709, PMID:2390072, PMID:2394452, PMID:2481421, PMID:2539391, PMID:2567291, PMID:2575668, PMID:2606478, PMID:2642408, PMID:2696185, PMID:2700304, PMID:2784123, PMID:2787118, PMID:2807278, PMID:2831367, PMID:2901226, PMID:2904702, PMID:2989709, PMID:3038256, PMID:3040726, PMID:3257351, PMID:3262617, PMID:3264419, PMID:3484754, PMID:3484755, PMID:3484756, PMID:3485249, PMID:3496639, PMID:3500183, PMID:3527273, PMID:3537008, PMID:3875547, PMID:6093867, PMID:6306478, PMID:6602622, PMID:6604220, PMID:7045697, PMID:7227484, PMID:7706910, PMID:7977369, PMID:7980208, PMID:8182727, PMID:8340361, PMID:8358043, PMID:8364536, PMID:8364590, PMID:8520784, PMID:8912354, PMID:8970361, PMID:9041988, PMID:9070606, PMID:9195389, PMID:9459000, PMID:9569237, PMID:9635295, PMID:10194472, PMID:10234508, PMID:10878477, PMID:10954248, PMID:11214903, PMID:11334395, PMID:11474657, PMID:11524735, PMID:12034572, PMID:12935698, PMID:14522813, PMID:14551891, PMID:14767073, PMID:14985567, PMID:15115878, PMID:15454649, PMID:15486938, PMID:15711957, PMID:15744045, PMID:15949707, PMID:15978931, PMID:15994391, PMID:16608528, PMID:17559149, PMID:17906067, PMID:17964515, PMID:18024524, PMID:18294358, PMID:18340647, PMID:18353624, PMID:18414213, PMID:18515255, PMID:18565211, PMID:18566672, PMID:18682522, PMID:19083091, PMID:19280649, PMID:19398551, PMID:19437508, PMID:19444872, PMID:19654085, PMID:19738092, PMID:19956452, PMID:20301692, PMID:20453271, PMID:20981092, PMID:21067581, PMID:21228398, PMID:21474916, PMID:21637600, PMID:21752289, PMID:21960536, PMID:22016686, PMID:22078084, PMID:22215832, PMID:22426792, PMID:22723858, PMID:22735536, PMID:22912357, PMID:22912729, PMID:22933512, PMID:22971141, PMID:22975760, PMID:23632999, PMID:23837941, PMID:23858502, PMID:23907436, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24328305, PMID:24428606, PMID:24518491, PMID:24713750, PMID:25181470, PMID:25391508, PMID:25425243, PMID:25454901, PMID:25741868, PMID:26141072, PMID:26243289, PMID:26304913, PMID:26310624, PMID:26321041, PMID:26604020, PMID:26672964, PMID:26831755, PMID:26987331, PMID:27296815, PMID:27465791, PMID:28492532, PMID:30585791, PMID:29641323, PMID:18515255 RGD:14695049, RGD:14695047 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30659203 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Alb albumin ISO RGD PMID:24365562 RGD:11035274 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Bloc1s6 biogenesis of lysosomal organelles complex 1 subunit 6 ISS OMIM:130700 MouseDO NCBI chr 3:114,869,478...114,880,218
Ensembl chr 3:114,869,459...114,881,590
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 chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO RGD PMID:20656949 RGD:4892658 NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:19537526 RGD:11039438 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:18772344 RGD:4891888 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:15526056 RGD:4892104 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Defb1 defensin beta 1 ISO mRNA:decreased expression:lung RGD PMID:18699806 RGD:4892249 NCBI chr16:75,294,385...75,309,127
Ensembl chr16:75,294,376...75,309,176
JBrowse link
G Dhx34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Pulmonary emphysema ClinVar NCBI chr 1:78,069,260...78,112,488
Ensembl chr 1:78,090,044...78,112,488
JBrowse link
G Ednra endothelin receptor type A IMP RGD PMID:19897563 RGD:4892307 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
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 chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Elane elastase, neutrophil expressed IMP RGD PMID:12186827 RGD:10450557 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
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 PMID:9288046, PMID:20525719, PMID:12579334, PMID:9288046, PMID:10853854 RGD:4140935, RGD:4889405, RGD:1601065, RGD:4889406 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Fbn1 fibrillin 1 ISS OMIM:130700 MouseDO NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fga fibrinogen alpha chain IEP protein:increased expression:plasma (rat) RGD PMID:20949089 RGD:11040553 NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
JBrowse link
G Fut8 fucosyltransferase 8 ISS OMIM:130700 MouseDO NCBI chr 6:100,305,957...100,537,208
Ensembl chr 6:100,337,226...100,537,224
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit IDA RGD PMID:19879314 RGD:5134681 NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion: : RGD PMID:20495862 RGD:4140927 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:19723343 RGD:5135041 NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:19723343 RGD:5135041 NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
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 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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 chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hhip Hedgehog-interacting protein ISO DNA:haplotype insufficiency: : RGD PMID:25763110 RGD:11552596 NCBI chr19:31,525,134...31,614,487
Ensembl chr19:31,524,671...31,614,246
JBrowse link
G Hmox1 heme oxygenase 1 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD PMID:10631150, PMID:10631150 RGD:1601606 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Il13 interleukin 13 ISO RGD PMID:11067861 RGD:4145652 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17ra interleukin 17 receptor A ISO RGD PMID:21647421 RGD:5144212 NCBI chr 4:152,995,865...153,018,394
Ensembl chr 4:152,995,865...153,018,394
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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Itgb6 integrin subunit beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12634787, PMID:12634787 RGD:737734 NCBI chr 3:46,652,624...46,775,362
Ensembl chr 3:46,652,623...46,726,958
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISS OMIM:130700 MouseDO NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
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 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Kl Klotho ISS OMIM:130700 MouseDO NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Lox lysyl oxidase ISO ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:17363767 RGD:4890375 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12634787, PMID:25106431 NCBI chr 8:5,594,717...5,616,494
Ensembl chr 8:5,606,592...5,616,493
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP
ISO
protein:increased activity:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:25106431, PMID:19897563 RGD:4892307 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP
ISO
protein:increased activity:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:25106431, PMID:19897563, PMID:14605041, PMID:18408070 RGD:4892307, RGD:8547887, RGD:5130151 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISS OMIM:130700 MouseDO NCBI chr 1:220,862,474...220,867,973
Ensembl chr 1:220,862,386...220,867,815
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO protein:decreased expression:lung: RGD PMID:18559366 RGD:5134973 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Nfkbia NFKB inhibitor alpha treatment IDA RGD PMID:20472710 RGD:4891488 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
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 chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 ISO mRNA,protein:increased expression:lung RGD PMID:20956973 RGD:4891415 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO mRNA:decreased expression:lung RGD PMID:18559366 RGD:5134973 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Pgf placental growth factor ISO mRNA, protein:increased expression:lung, plasma RGD PMID:17023518 RGD:5135245 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23144332 RGD:7242020 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:20472710 RGD:4891488 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Ptma prothymosin alpha ISS OMIM:130700 MouseDO NCBI chr 9:93,545,396...93,549,436
Ensembl chr 9:93,545,396...93,549,436
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:27982104 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:3485249, PMID:21030517, PMID:19941265 RGD:4892126, RGD:4892125 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Sftpc surfactant protein C susceptibility ISO DNA:polymorphism: :138A>C, 186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
G Smo smoothened, frizzled class receptor ISS OMIM:130700 MouseDO NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISO protein:increased expression:lung: RGD PMID:20448054 RGD:10041059 NCBI chr19:38,237,963...38,321,572
Ensembl chr19:38,237,965...38,321,528
JBrowse link
G Srfbp1 serum response factor binding protein 1 ISO ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 NCBI chr18:47,456,406...47,478,967
Ensembl chr18:47,456,327...47,480,587
JBrowse link
G Tacr1 tachykinin receptor 1 ISO RGD PMID:19445658 RGD:5147818 NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
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 PMID:12634787, PMID:18670143 RGD:4145272 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:alveolar macrophage RGD PMID:18399852 RGD:4145342 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO
ISS
OMIM:130700 MouseDO PMID:17053835 RGD:4144170 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Pathologic Processes 6130
        Emphysema 80
          Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 0
          Congenital Hemolytic Anemia with Emphysema and Cutis Laxa 0
          Mediastinal Emphysema 0
          Subcutaneous Emphysema + 1
          pulmonary emphysema + 67
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.