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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


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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26780485 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G APOE apolipoprotein E EXP CTD Direct Evidence: marker/mechanism CTD PMID:24096154 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G CD46 CD46 molecule IEP RGD PMID:21573156 RGD:6483458 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		JBrowse link
G CEBPA CCAAT enhancer binding protein alpha EXP CTD Direct Evidence: therapeutic CTD PMID:29078374 NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534 		JBrowse link
G FBLN5 fibulin 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		JBrowse link
G FBN1 fibrillin 1 ISO associated with Marfan Syndrome RGD PMID:12598898 RGD:1300319 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G HDAC2 histone deacetylase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24040961 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308 		JBrowse link
G IL17A interleukin 17A EXP CTD Direct Evidence: marker/mechanism CTD PMID:27380433 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638 		JBrowse link
G KL klotho ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9363890 PMID:9363890 RGD:10403047 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G LOX lysyl oxidase IAGP ClinVar Annotator: match by term: Emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G MCAM melanoma cell adhesion molecule ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:23649916 RGD:7364780 NCBI chr11:119,308,529...119,317,130
Ensembl chr11:119,308,529...119,321,521 		JBrowse link
G METTL3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit EXP CTD Direct Evidence: therapeutic CTD PMID:33660100 NCBI chr14:21,498,138...21,511,340
Ensembl chr14:21,498,133...21,511,342 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP DNA:intron:snp:IVS1+18C>T rs470358 (human) RGD PMID:19293200 RGD:4890371 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:22633097 RGD:13207325 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 EXP CTD Direct Evidence: therapeutic CTD PMID:20133372 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24465666 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA:increased expression:lung (rat) RGD PMID:22675432 RGD:9999407 NCBI chr19:48,872,421...48,876,058
Ensembl chr19:48,872,212...48,876,059 		JBrowse link
G PPP2R2A protein phosphatase 2 regulatory subunit Balpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:22223484 NCBI chr 8:26,291,508...26,372,680
Ensembl chr 8:26,291,508...26,372,680 		JBrowse link
G PPP2R2C protein phosphatase 2 regulatory subunit Bgamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:22223484 NCBI chr 4:6,320,581...6,563,799
Ensembl chr 4:6,320,578...6,563,600 		JBrowse link
G PPP2R5A protein phosphatase 2 regulatory subunit B'alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:22223484 NCBI chr 1:212,285,410...212,361,853
Ensembl chr 1:212,285,410...212,361,853 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP
EXP		 ClinVar Annotator: match by term: PI M(MINERAL SPRINGS)
ClinVar Annotator: match by term: PI S
ClinVar Annotator: match by term: PI I
ClinVar Annotator: match by term: PI M(PROCIDA)
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:301355 PMID:1082356 PMID:1504305 PMID:1889260 PMID:1967187 More... NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SRFBP1 serum response factor binding protein 1 IAGP ClinVar Annotator: match by term: Emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:121,961,975...122,078,935
Ensembl chr 5:121,961,975...122,075,570 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:22633097 RGD:13207325 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:15805183 RGD:4143415 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: therapeutic CTD PMID:29984229 NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207 		JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22276220 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		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 IAGP
IMP
EXP		 ClinVar Annotator: match by term: PI Q0(NEWPORT)
ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency
ClinVar Annotator: match by term: SERPINA1-related condition
ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency | ClinVar Annotator: match by term: SERPINA1-related condition
ClinVar Annotator: match by term: AAT deficiency
ClinVar Annotator: match by term: PI Q0(BELLINGHAM)
ClinVar Annotator: match by term: PI Q0(GRANITE FALLS)
ClinVar Annotator: match by term: PI Z(BRISTOL)
DNA:polymorphisms:cds:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PI W(BETHESDA)
ClinVar Annotator: match by term: PI Q0(LUDWIGSHAFEN)
ClinVar Annotator: match by term: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
ClinVar Annotator: match by term: PI S(IIYAMA)
ClinVar Annotator: match by term: PI NULL(PROCIDA)		 ClinVar
CTD
OMIM
RGD		 PMID:301355 PMID:412531 PMID:1082356 PMID:1504305 PMID:1552539 More... RGD:14695049, RGD:14695047 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
pulmonary emphysema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO RGD PMID:20935231 RGD:5686887 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G AGER advanced glycosylation end-product specific receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:30659203 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G ALB albumin IEP RGD PMID:24365562 RGD:11035274 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 ISS OMIM:130700 MouseDO NCBI chr15:45,587,123...45,609,716
Ensembl chr15:45,587,214...45,615,945 		JBrowse link
G CCL11 C-C motif chemokine ligand 11 disease_progression IEP associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:lung RGD PMID:17983873 RGD:4145393 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 disease_progression IEP associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:sputum RGD PMID:20966041 RGD:4891458 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO
IEP		 mRNA, protein:increased expression:lung (mouse)
protein:increased expression:lung, lymphocyte (human)		 RGD PMID:16284650 PMID:15526056 PMID:17883726 RGD:4892098, RGD:4892104, RGD:4892090 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CHI3L1 chitinase 3 like 1 ISO RGD PMID:20656949 RGD:4892658 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704 		JBrowse link
G CLPTM1L CLPTM1 like severity IAGP associated with smoking; DNA:SNP:intron:rs31489(human) RGD PMID:21622582 RGD:150530642 NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099 		JBrowse link
G CSF3 colony stimulating factor 3 treatment IDA RGD PMID:19537526 RGD:11039438 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:18772344 RGD:4891888 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044 		JBrowse link
G CXCL1 C-X-C motif chemokine ligand 1 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308 		JBrowse link
G CXCL10 C-X-C motif chemokine ligand 10 IEP protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497 		JBrowse link
G CXCL3 C-X-C motif chemokine ligand 3 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr 4:74,036,589...74,038,689
Ensembl chr 4:74,036,589...74,038,807 		JBrowse link
G CXCL5 C-X-C motif chemokine ligand 5 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677 		JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 ISO mRNA:increased expression:lung RGD PMID:17023518 RGD:5135245 NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 IEP protein:increased expression:lung, lymphocyte RGD PMID:15526056 RGD:4892104 NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509 		JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 IEP RGD PMID:15526056 RGD:4892104 NCBI chr  X:71,615,919...71,618,511
Ensembl chr  X:71,615,916...71,618,511 		JBrowse link
G CYP2A6 cytochrome P450 family 2 subfamily A member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12832682 NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447 		JBrowse link
G DEFB1 defensin beta 1 ISO mRNA:decreased expression:lung RGD PMID:18699806 RGD:4892249 NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936 		JBrowse link
G EDNRA endothelin receptor type A ISO RGD PMID:19897563 RGD:4892307 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G EGR1 early growth response 1 resistance IEP
ISO		 mRNA, protein:increased expression:lung (human)
associated with Tobacco Use Disorder;protein:increased expression:lung, epithelial cell (mouse)		 RGD PMID:11021835 PMID:16601242 PMID:18830406 RGD:5131973, RGD:5131892, RGD:5131853 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303 		JBrowse link
G ELANE elastase, neutrophil expressed ISO RGD PMID:12186827 RGD:10450557 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G ELN elastin EXP CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EPHX1 epoxide hydrolase 1 no_association
susceptibility		 IAGP
EXP		 associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:SNP:exon:p.Y113H (rs1051740) (human)		 CTD
RGD		 PMID:9288046 PMID:20525719 PMID:10853854 PMID:9288046 PMID:12579334 RGD:4140935, RGD:4889406, RGD:1601065, RGD:4889405 NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563 		JBrowse link
G FGA fibrinogen alpha chain ISO protein:increased expression:plasma (rat) RGD PMID:20949089 RGD:11040553 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G FSTL1 follistatin like 1 ISS OMIM:130700 MouseDO NCBI chr 3:120,392,293...120,450,992
Ensembl chr 3:120,392,293...120,451,016 		JBrowse link
G FUT8 fucosyltransferase 8 ISS OMIM:130700 MouseDO NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit ISO RGD PMID:19879314 RGD:5134681 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion: : RGD PMID:20495862 RGD:4140927 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 IEP RGD PMID:19723343 RGD:5135041 NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 IAGP associated with Pulmonary Disease, Chronic Obstructive;DNA:SNP (human) RGD PMID:20525719 RGD:4140935 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G HDAC2 histone deacetylase 2 treatment ISO mRNA,proetin:increased expression,increased activity,hyperphosphorylation,hypercarbonylation:lung: RGD PMID:23326540 PMID:24040961 RGD:9590245, RGD:9590320 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308 		JBrowse link
G HHIP hedgehog interacting protein ISO DNA:haplotype insufficiency: : RGD PMID:25763110 RGD:11552596 NCBI chr 4:144,646,156...144,745,271
Ensembl chr 4:144,646,156...144,745,271 		JBrowse link
G HMOX1 heme oxygenase 1 susceptibility IAGP
EXP		 DNA:allele:promoter:L allele of the (GT)n repeat (>30 repeats)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:10631150 PMID:10631150 RGD:1601606 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G IL13 interleukin 13 ISO RGD PMID:11067861 RGD:4145652 NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110 		JBrowse link
G IL17RA interleukin 17 receptor A ISO RGD PMID:21647421 RGD:5144212 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693 		JBrowse link
G IL18 interleukin 18 ISO mRNA, protein:increased expression:respiratory system fluid/secretion, macrophage RGD PMID:17400729 PMID:23392573 RGD:4889590, RGD:8655969 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096 		JBrowse link
G IL1RL1 interleukin 1 receptor like 1 treatment ISO associated with common cold; RGD PMID:30952808 RGD:40400740 NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037 		JBrowse link
G ITGB6 integrin subunit beta 6 ISO
ISS
EXP		 OMIM:130700
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:12634787 PMID:12634787 RGD:737734 NCBI chr 2:160,099,671...160,200,272
Ensembl chr 2:160,099,667...160,271,888 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISS OMIM:130700 MouseDO NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 onset IEP
ISO		 protein:increased expression:lung (human) RGD PMID:18559366 PMID:19520915 RGD:5134973, RGD:6893395 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G KL klotho ISS OMIM:130700 MouseDO NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G LOX lysyl oxidase IAGP ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413 		JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:17363767 RGD:4890375 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP12 matrix metallopeptidase 12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12634787 PMID:25106431 NCBI chr11:102,862,736...102,874,982
Ensembl chr11:102,862,736...102,874,982 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO
EXP		 protein:increased activity:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25106431 PMID:19897563 RGD:4892307 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO
EXP
IEP
IMP		 protein:increased activity:lung
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25106431 PMID:19897563 PMID:14605041 PMID:18408070 RGD:4892307, RGD:8547887, RGD:5130151 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISS OMIM:130700 MouseDO NCBI chr11:65,859,674...65,867,653
Ensembl chr11:65,857,126...65,867,653 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 IEP protein:decreased expression:lung: RGD PMID:18559366 RGD:5134973 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO RGD PMID:20472710 RGD:4891488 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA,protein:increased expression:lung RGD PMID:20956973 PMID:22000010 PMID:20472710 RGD:4891415, RGD:5509103, RGD:4891488 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA,protein:increased expression:lung RGD PMID:20956973 RGD:4891415 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 IEP mRNA:decreased expression:lung RGD PMID:18559366 RGD:5134973 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		JBrowse link
G PGF placental growth factor ISO mRNA, protein:increased expression:lung, plasma RGD PMID:17023518 RGD:5135245 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23144332 RGD:7242020 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:20472710 RGD:4891488 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTMA prothymosin alpha ISS OMIM:130700 MouseDO NCBI chr 2:231,708,525...231,713,551
Ensembl chr 2:231,706,895...231,713,551 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:27982104 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP
EXP
IDA		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:3485249 PMID:21030517 PMID:19941265 RGD:4892126, RGD:4892125 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SFTPC surfactant protein C susceptibility IAGP DNA:polymorphism: :138A>C, 186A>G (human) RGD PMID:18038590 RGD:4144115 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G SMO smoothened, frizzled class receptor ISS OMIM:130700 MouseDO NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 IEP protein:increased expression:lung: RGD PMID:20448054 RGD:10041059 NCBI chr16:68,358,327...68,448,508
Ensembl chr16:68,358,327...68,448,508 		JBrowse link
G SRFBP1 serum response factor binding protein 1 IAGP ClinVar Annotator: match by term: Pulmonary emphysema ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:121,961,975...122,078,935
Ensembl chr 5:121,961,975...122,075,570 		JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:19445658 RGD:5147818 NCBI chr 2:75,046,463...75,199,520
Ensembl chr 2:75,046,463...75,199,520 		JBrowse link
G TGFB1 transforming growth factor beta 1 severity IAGP
EXP		 associated with Pulmonary Disease, Chronic Obstructive;DNA:SNPs:promoter:rs1800469, rs1982073 (human)
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:12634787 PMID:18670143 RGD:4145272 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression:alveolar macrophage RGD PMID:18399852 RGD:4145342 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TLR4 toll like receptor 4 ISO
ISS		 OMIM:130700 MouseDO
RGD		 PMID:17053835 RGD:4144170 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:25106431 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    Pathological Conditions, Signs and Symptoms 21490
      Pathologic Processes 13190
        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 + 1
          pulmonary emphysema + 69
paths to the root