RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | obstructive lung disease |
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Accession: | DOID:2320
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browse the term
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Definition: | A lung disease that is characterized by narrowing of pulmonary airways. (DO) |
Synonyms: | exact_synonym: | obstructive lung diseases; obstructive pulmonary disease; obstructive pulmonary diseases; respiratory airway obstruction |
| primary_id: | MESH:D008173 |
For additional species annotation, visit the
Alliance of Genome Resources.
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A2m |
alpha-2-macroglobulin |
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ISO |
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RGD |
PMID:2475424 |
RGD:1300321 |
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Ccno |
cyclin O |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24747639 |
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NCBI chr 2:44,630,873...44,633,912
Ensembl chr 2:44,626,369...44,633,914
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Foxf1 |
forkhead box F1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18421012 |
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NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738
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Grk5 |
G protein-coupled receptor kinase 5 |
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ISO |
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RGD |
PMID:14565944 |
RGD:5688385 |
NCBI chr 1:260,028,269...260,223,699
Ensembl chr 1:260,028,242...260,218,701
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Mmp1 |
matrix metallopeptidase 1 |
severity |
ISO |
DNA:insertion:promoter:g.-1607insG (human) |
RGD |
PMID:11875051 |
RGD:4890377 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9926163 |
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NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375
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Scnn1b |
sodium channel epithelial 1 subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27982104 |
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NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
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Ccl26 |
C-C motif chemokine ligand 26 |
treatment |
ISO |
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RGD |
PMID:25530546 |
RGD:11081163 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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Cysltr1 |
cysteinyl leukotriene receptor 1 |
treatment |
ISO |
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RGD |
PMID:23933317 |
RGD:40903070 |
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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Epx |
eosinophil peroxidase |
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ISO |
protein:increased expression:urine: |
RGD |
PMID:11846868 |
RGD:13506893 |
NCBI chr10:72,666,865...72,677,952
Ensembl chr10:72,666,865...72,677,952
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Il25 |
interleukin 25 |
treatment |
ISO |
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RGD |
PMID:17889290 |
RGD:40902975 |
NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
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RT1-B |
RT1 class II, locus B |
susceptibility |
ISO |
DNA:polymorphism: |
RGD |
PMID:28380482 |
RGD:13506910 |
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RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
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RGD |
PMID:22397267 |
RGD:13506905 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-Ha |
RT1 class II, locus Ha |
susceptibility |
ISO |
DNA:polymorphism: |
RGD |
PMID:28380482 |
RGD:13506910 |
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
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RT1-Hb-ps1 |
RT1 class II, locus Hb, pseudogene 1 |
susceptibility |
ISO |
DNA:polymorphism: |
RGD |
PMID:28380482 |
RGD:13506910 |
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Trem1 |
triggering receptor expressed on myeloid cells 1 |
exacerbates |
ISO |
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RGD |
PMID:21592044 PMID:21592044 |
RGD:126928124, RGD:126928124 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Cacng6 |
calcium voltage-gated channel auxiliary subunit gamma 6 |
susceptibility |
ISO |
DNA:SNP,haplotype:rs192808(human) |
RGD |
PMID:20860846 |
RGD:13524562 |
NCBI chr 1:65,732,910...65,747,377
Ensembl chr 1:65,732,632...65,747,341
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Ccr3 |
C-C motif chemokine receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20485159 PMID:20022477 |
RGD:4145619 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Cysltr1 |
cysteinyl leukotriene receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 PMID:17641958 PMID:20485159 |
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NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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Cysltr2 |
cysteinyl leukotriene receptor 2 |
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ISO |
DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16502481 PMID:20485159 PMID:15970796 |
RGD:5144000 |
NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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Fancc |
FA complementation group C |
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ISO |
DNA:haplotype::rs4647416(human) |
RGD |
PMID:21670957 |
RGD:11045795 |
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
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Il4 |
interleukin 4 |
susceptibility |
ISO |
DNA:SNPs:promoter,5'UTR,intron:multiple |
RGD |
PMID:20921925 |
RGD:11528633 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Ltc4s |
leukotriene C4 synthase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9393345 PMID:9466979 PMID:10970818 PMID:20485159 |
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NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
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Ms4a2 |
membrane spanning 4-domains A2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 |
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NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
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Postn |
periostin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18391768 |
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NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Ptgdr2 |
prostaglandin D2 receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
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NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213
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Ptger2 |
prostaglandin E receptor 2 |
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ISO |
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15496426 PMID:16502481 |
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NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714
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Ptgir |
prostaglandin I2 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
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NCBI chr 1:77,579,596...77,581,979
Ensembl chr 1:77,579,596...77,581,979
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
protein:increased expression:mast cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16502481 PMID:20485159 PMID:9487340 |
RGD:5143936 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
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RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
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RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
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RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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RT1-Hb-ps1 |
RT1 class II, locus Hb, pseudogene 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 |
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NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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Tap2 |
transporter 2, ATP binding cassette subfamily B member |
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ISO |
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RGD |
PMID:21796142 |
RGD:5147839 |
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Tbx21 |
T-box transcription factor 21 |
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ISO |
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15806396 PMID:16502481 |
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NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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Tbxa2r |
thromboxane A2 receptor |
susceptibility |
ISO |
DNA:polymorphism: :795T>C (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16502481 PMID:20485159 PMID:15898979 |
RGD:11059537 |
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
protein:increased expression:blood, lymphocyte |
RGD |
PMID:19484671 |
RGD:4890020 |
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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Abcc1 |
ATP binding cassette subfamily C member 1 |
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ISO |
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RGD |
PMID:18931056 |
RGD:5128825 |
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
no_association |
ISO |
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RGD |
PMID:19771478 PMID:16008680 |
RGD:5128835, RGD:5128831 |
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:19484664 PMID:19383228 |
RGD:4140913, RGD:4140919 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Acsl3 |
acyl-CoA synthetase long-chain family member 3 |
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ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:19221603 |
RGD:13831295 |
NCBI chr 9:80,115,164...80,164,636
Ensembl chr 9:80,115,112...80,164,627
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Ada |
adenosine deaminase |
susceptibility |
ISO |
DNA:polymorphisms (human) |
RGD |
PMID:16754522 |
RGD:5128848 |
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Adam33 |
ADAM metallopeptidase domain 33 |
susceptibility no_association disease_progression |
ISO |
mRNA:increased expression:lung DNA:polymorphism: :p.M764T (human) DNA:SNPs:introns,exon:7575G>A, 11188A>T, 12433T>C (human) mRNA:increased expression:bronchus DNA:SNPs (human) DNA:SNPs: :multiple (human) |
RGD GAD |
PMID:19635592 PMID:17961406 PMID:16893396 PMID:15118671 PMID:17339047 PMID:19940503 PMID:18778489 More...
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RGD:4145360, RGD:4145379, RGD:4145382, RGD:1331525, RGD:4145380, RGD:4145359, RGD:4145378 |
NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461
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Adam8 |
ADAM metallopeptidase domain 8 |
severity |
ISO |
mRNA:increased expression:bronchus mRNA:increased expression:respiratory tract |
RGD |
PMID:17339047 PMID:20194813 PMID:19373511 |
RGD:4145380, RGD:5128872, RGD:5128878 |
NCBI chr 1:194,776,559...194,789,330
Ensembl chr 1:194,770,060...194,788,801
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Adcy2 |
adenylate cyclase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
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NCBI chr 1:34,375,639...34,822,252
Ensembl chr 1:34,375,895...34,822,236
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Adcyap1r1 |
ADCYAP receptor type I |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21059121 |
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NCBI chr 4:84,593,558...84,642,700
Ensembl chr 4:84,593,892...84,642,700
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Adh5 |
alcohol dehydrogenase 5 (class III), chi polypeptide |
susceptibility |
ISO |
protein:increased expression:respiratory system fluid/secretion DNA:SNPs: :rs1154404, rs28730619 (human) |
RGD |
PMID:19395503 PMID:17543375 PMID:19514054 PMID:15919956 |
RGD:5128891, RGD:5128882, RGD:5128890, RGD:5128892 |
NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
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Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
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RGD |
PMID:19168697 |
RGD:5686821 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Adora1 |
adenosine A1 receptor |
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ISO |
DNA:SNPs: :1405C>T (human) protein:increased expression:bronchus |
RGD |
PMID:19019667 PMID:20400685 PMID:17959644 |
RGD:4890386, RGD:4145444, RGD:5129097 |
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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Adora2a |
adenosine A2a receptor |
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ISO |
mRNA:decreased expression:aorta DNA:SNP (human) |
RGD |
PMID:17293374 PMID:18310516 PMID:19019667 PMID:16339780 |
RGD:4890380, RGD:4890366, RGD:4890386, RGD:4890385 |
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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Adrb2 |
adrenoceptor beta 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Beta-2-adrenoreceptor agonist, reduced response to DNA:SNP: :-1023A>G (human) DNA:SNPs: :p.R16G, p.Q27E (human) DNA:SNPs:promoter:multiple (human) DNA:polymorphism: :p.R16G (human) DNA:SNP: :p.Q27E (human) |
ClinVar RGD |
PMID:8383511 PMID:15284533 PMID:16596417 PMID:1655856 PMID:15118671 PMID:19638684 PMID:18785519 PMID:19423772 PMID:20443840 PMID:19029431 PMID:20004781 PMID:19800676 PMID:18569231 More...
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RGD:5129113, RGD:1331525, RGD:4145081, RGD:4145094, RGD:4145107, RGD:4145108, RGD:4145092, RGD:4145105, RGD:4145061, RGD:4145096 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Ager |
advanced glycosylation end product-specific receptor |
treatment onset |
ISO IDA IEP |
CTD Direct Evidence: marker/mechanism protein:decreased expression:lung (rat) |
CTD RGD |
PMID:33075463 PMID:21920897 PMID:23304218 PMID:23304218 |
RGD:6767554, RGD:7244279, RGD:7244279 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agtr1a |
angiotensin II receptor, type 1a |
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ISO IMP |
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RGD |
PMID:17877756 PMID:19080339 |
RGD:5147452, RGD:5147457 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr2 |
angiotensin II receptor, type 2 |
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IEP |
mRNA, protein:increased expression:lung |
RGD |
PMID:19080339 |
RGD:5147457 |
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Aldh2 |
aldehyde dehydrogenase 2 family member |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9600491 PMID:11506308 PMID:15118671 |
RGD:1331525 |
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Alox15 |
arachidonate 15-lipoxygenase |
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ISO |
protein:increased expression:lung |
RGD |
PMID:19628725 PMID:18692885 |
RGD:5509605, RGD:5509784 |
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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Alox5 |
arachidonate 5-lipoxygenase |
no_association susceptibility treatment severity |
ISO |
DNA:polymorphism:promoter (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:blood, leukocyte protein:increased expression:lung DNA:repeat:promoter (human) DNA:polymorphism:cds:p.E254K (human) |
OMIM CTD RGD |
PMID:20128419 PMID:9642160 PMID:12911785 PMID:8879219 PMID:11035107 PMID:19033731 PMID:10369259 PMID:16364163 PMID:17394438 PMID:18204779 More...
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RGD:4890407, RGD:5147467, RGD:5147465, RGD:5147462, RGD:4890422, RGD:4890408, RGD:734557, RGD:4890415, RGD:4890413, RGD:4890410 |
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Alox5ap |
arachidonate 5-lipoxygenase activating protein |
susceptibility no_association |
ISO |
DNA:SNP: :rs10507391 (human) mRNA:increased expression:blood, leukocyte DNA:repeat:promoter:-169(A)21 (human) DNA:substitution, repeat:promoter:-336G>A, -169(A)19-23 (human) DNA:polymorphisms:intron:IVS2+12C>A, IVS2+105T>C (human) protein:increased expression:lung DNA:polymorphism:promoter (human) DNA:SNPs (human) |
RGD |
PMID:20067482 PMID:9642160 PMID:10527888 PMID:12911785 PMID:15784112 PMID:8879219 PMID:11035107 PMID:20128419 PMID:18547289 More...
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RGD:4890405, RGD:5147467, RGD:5147466, RGD:5147465, RGD:5147464, RGD:5147462, RGD:4890422, RGD:4890407, RGD:4890409 |
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
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Ambp |
alpha-1-microglobulin/bikunin precursor |
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ISO |
protein:increased expression:serum |
RGD |
PMID:14621078 |
RGD:6904149 |
NCBI chr 5:76,568,094...76,578,416
Ensembl chr 5:76,568,094...76,578,331
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Ang |
angiogenin |
severity |
ISO |
protein:increased expression:sputum |
RGD |
PMID:16478840 |
RGD:6892719 |
NCBI chr15:24,312,711...24,323,361
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Anxa1 |
annexin A1 |
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ISO |
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RGD |
PMID:22092555 |
RGD:7421657 |
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Areg |
amphiregulin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15696081 |
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NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
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G |
Arg1 |
arginase 1 |
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ISO |
DNA:SNP: :rs2781667 (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) mRNA, protein:increased expression:lung, mononuclear cell (human) |
CTD RGD |
PMID:19281908 PMID:19800904 PMID:20124949 PMID:12813022 PMID:12813022 |
RGD:5129205, RGD:4143187, RGD:4143187 |
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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Arg2 |
arginase 2 |
severity susceptibility |
ISO |
DNA:SNP: :rs3742879, rs17249437 (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) DNA:SNPs (human) |
CTD RGD |
PMID:19281908 PMID:20124949 PMID:12813022 PMID:16387594 |
RGD:5129205, RGD:4143187, RGD:5129207 |
NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
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G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18357729 |
|
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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|
G |
Bdkrb2 |
bradykinin receptor B2 |
onset |
ISO IMP |
DNA:polymorphism:exon (human) protein:increased expression:blood, eosinophil |
RGD |
PMID:11517947 PMID:14727005 PMID:8856156 PMID:19038786 |
RGD:4890456, RGD:4890454, RGD:4891042, RGD:4891028 |
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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|
G |
Bdnf |
brain-derived neurotrophic factor |
susceptibility severity |
ISO |
protein:decreased expression:blood, eosinophil DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human) DNA:polymorphisms: :p.V66M, -270C>T (human) DNA:polymorphisms: :p.V66M (rs6265) (human) protein:increased expression:plasma |
RGD |
PMID:12752594 PMID:21723144 PMID:17584309 PMID:19895626 PMID:20874832 PMID:11737043 More...
|
RGD:4891122, RGD:8655967, RGD:4891067, RGD:4891117, RGD:4891063, RGD:4891123 |
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
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G |
Bglap |
bone gamma-carboxyglutamate protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8429434 |
|
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
|
ISO |
protein:decreased expression:bronchus |
RGD |
PMID:18292470 |
RGD:5129470 |
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
|
ISO |
protein:decreased expression:bronchus |
RGD |
PMID:18292470 |
RGD:5129470 |
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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|
G |
C3 |
complement C3 |
severity |
ISO |
DNA:SNPs: :multiple (human) protein:increased expression:serum DNA:SNP: :4896C>T (human) DNA:SNP:intron:rs11569562 (human) Interaction with IL4RA protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:16355111 PMID:20589464 PMID:15278436 PMID:18566738 PMID:20402389 PMID:20395963 PMID:20802484 PMID:11591733 More...
|
RGD:5129505, RGD:5129519, RGD:5129512, RGD:5129501, RGD:5129537, RGD:5129538, RGD:5129681, RGD:5129517 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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|
G |
C3ar1 |
complement C3a receptor 1 |
severity |
ISO IEP |
mRNA:increased expression:lung protein:increased expression:lung, leukocyte |
RGD |
PMID:20045013 PMID:17544263 PMID:20802484 PMID:15940127 PMID:15278436 |
RGD:5129686, RGD:5129560, RGD:5129681, RGD:5129561, RGD:5129512 |
NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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G |
C5 |
complement C5 |
severity |
ISO IDA |
mRNA:decreased expression:lung |
RGD |
PMID:10973279 PMID:20143644 PMID:20802484 PMID:15278436 PMID:11591795 |
RGD:5130158, RGD:5129706, RGD:5129681, RGD:5129512, RGD:1600651 |
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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G |
C5ar1 |
complement C5a receptor 1 |
severity |
ISO IEP |
protein:increased expression:lung, leukocyte protein:increased expression:respiratory tract |
RGD |
PMID:20802484 PMID:17544263 PMID:15940127 PMID:16511606 |
RGD:5129681, RGD:5129560, RGD:5129561, RGD:5130166 |
NCBI chr 1:76,948,622...76,959,826
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G |
Card11 |
caspase recruitment domain family, member 11 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma |
ClinVar RGD |
PMID:18323416 PMID:23027925 PMID:23129749 PMID:25352053 PMID:25741868 PMID:26861442 PMID:28492532 PMID:28824638 PMID:29472930 PMID:16751370 More...
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RGD:11100037 |
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
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G |
Carm1 |
coactivator-associated arginine methyltransferase 1 |
|
IEP |
mRNA:decreased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
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G |
Casp1 |
caspase 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:12396474 |
RGD:5130192 |
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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G |
Cat |
catalase |
severity |
ISO |
DNA:polymorphism:promoter:-21A>T (human) CTD Direct Evidence: marker/mechanism protein:decreased activity:respiratory system fluid/secretion DNA:polymorphism:promoter:-262C>T (human) protein:increased expression:erythrocyte |
CTD RGD |
PMID:18048809 PMID:19373626 PMID:16622028 PMID:18048809 PMID:19475625 |
RGD:5130753, RGD:5130867, RGD:5130856, RGD:5130751 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccl1 |
C-C motif chemokine ligand 1 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:20455898 |
RGD:4891420 |
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
susceptibility treatment severity |
ISO IDA IEP |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.A23T (human) mRNA:increased expression:lung |
OMIM CTD RGD |
PMID:16304252 PMID:22932891 PMID:17074272 PMID:9034156 PMID:17845580 PMID:18250471 PMID:20704746 PMID:17060636 More...
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RGD:5130930, RGD:7248416, RGD:4145461, RGD:4145451, RGD:4145457, RGD:4145392, RGD:4145387, RGD:4891485 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
IEP ISO |
mRNA:increased expression:lung protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:15993846 PMID:15947487 PMID:20074456 PMID:20237293 PMID:11160256 |
RGD:2306304, RGD:4145513, RGD:4145487, RGD:4145486, RGD:4145603 |
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl19 |
C-C motif chemokine ligand 19 |
|
ISO |
protein:increased expression:bronchus submucosa, mast cell |
RGD |
PMID:16959919 |
RGD:5130911 |
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
severity treatment |
ISO IEP |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) DNA:haplotype::-2518A>G (human) protein:increased expression:lung |
CTD RGD |
PMID:19373627 PMID:19373627 PMID:12055264 PMID:25441643 PMID:23454776 PMID:17964702 PMID:20205697 More...
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RGD:4891466, RGD:11528570, RGD:11528569, RGD:8551842, RGD:2307055, RGD:4145509 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl20 |
C-C motif chemokine ligand 20 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion associated with Allergic Rhinitis;protein:increased expression:serum |
RGD |
PMID:18422729 PMID:22469443 |
RGD:7483597, RGD:7483618 |
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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G |
Ccl22 |
C-C motif chemokine ligand 22 |
|
ISO IEP |
protein:increased expression:respiratory system fluid/secretion mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion mRNA:increased expression:lung |
RGD |
PMID:18316417 PMID:10384142 PMID:18684970 PMID:15993846 |
RGD:4891474, RGD:4891475, RGD:4145489, RGD:2306304 |
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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G |
Ccl24 |
C-C motif chemokine ligand 24 |
susceptibility |
ISO |
DNA:SNPs: :179T>C, 275C>T (human) protein:increased expression:respiratory system fluid/secretion DNA:SNP: :1265A>G (human) DNA:SNPs: :304C>A, 1272A>G (human) protein:increased expression:plasma |
RGD |
PMID:15207712 PMID:17548626 PMID:12952266 PMID:12761043 PMID:18712274 PMID:17060636 PMID:16304252 More...
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RGD:4891495, RGD:4891484, RGD:4891496, RGD:5130932, RGD:4891483, RGD:4891485, RGD:5130930 |
NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
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G |
Ccl26 |
C-C motif chemokine ligand 26 |
treatment |
ISO IDA |
protein:increased expression:plasma DNA:SNPs: :77C>T, 2497T>G (human) DNA:SNPs: :77C>T, 716A>G, 1579G>A (human) |
RGD |
PMID:16304252 PMID:25399816 PMID:25530546 PMID:15207712 PMID:18712274 |
RGD:5130930, RGD:11087575, RGD:11081163, RGD:4891495, RGD:4891483 |
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
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G |
Ccl27 |
C-C motif chemokine ligand 27 |
|
ISO |
|
RGD |
PMID:19541356 |
RGD:5130899 |
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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G |
Ccl28 |
C-C motif chemokine ligand 28 |
|
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:16290206 |
RGD:4892195 |
NCBI chr 2:51,601,354...51,625,999
Ensembl chr 2:51,601,331...51,625,997
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
|
RGD |
PMID:18774390 |
RGD:5130915 |
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
susceptibility |
IEP ISO |
protein:increased expression:smooth muscle cell CTD Direct Evidence: marker/mechanism DNA:transition:5' utr:-403G>A (human) protein:increased expression:lung, secretion (mouse) |
CTD RGD |
PMID:8534483 PMID:18208670 PMID:20430255 PMID:20092989 |
RGD:2307112, RGD:4891381, RGD:4891430 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
ISO |
|
RGD |
PMID:21388664 PMID:19965981 |
RGD:5130983, RGD:5130979 |
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
severity |
ISO |
mRNA:increased expression:lung associated with Respiratory Syncytial Virus Infections |
RGD |
PMID:15654816 PMID:15593301 |
RGD:5688158, RGD:5688159 |
NCBI chr 8:123,556,286...123,561,841
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
susceptibility |
ISO |
DNA:SNP:cds:p.V64I (human) DNA:haplotype:cds:p.V64I(human) protein:increased expression:lung, dendritic cell (mouse) |
RGD |
PMID:17298432 PMID:23454776 PMID:19917684 |
RGD:4145110, RGD:8551842, RGD:8549811 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO IMP |
protein:increased expression:respiratory system fluid/secretion, neutrophil DNA:SNP:exon:51T>C (human) |
RGD |
PMID:18699933 PMID:19017998 PMID:20220260 PMID:16978084 PMID:19657453 PMID:20134116 PMID:17145927 More...
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RGD:4145633, RGD:4145632, RGD:4145638, RGD:4145646, RGD:4145623, RGD:4145618, RGD:1601020 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Ccr4 |
C-C motif chemokine receptor 4 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:15993846 |
RGD:2306304 |
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
no_association |
ISO |
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) DNA:polymorphism, frameshift mutation: :-59029G>A, p.S185_T195del (rs333) (human) mRNA:increased expression:lung (mouse) protein:decreased expression:blood, lymphocyte (human) |
RGD |
PMID:20220260 PMID:23454776 PMID:16474097 PMID:18094012 PMID:15256090 |
RGD:4145638, RGD:8551842, RGD:4892093, RGD:4892088, RGD:4892108 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Ccr6 |
C-C motif chemokine receptor 6 |
|
ISO |
protein:increased expression:lung, dendritic cell (mouse) |
RGD |
PMID:19917684 |
RGD:8549811 |
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
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G |
Ccr7 |
C-C motif chemokine receptor 7 |
|
ISO |
protein:increased expression:lung, dendritic cell (mouse) |
RGD |
PMID:19917684 |
RGD:8549811 |
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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G |
Ccr8 |
C-C motif chemokine receptor 8 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:15993846 |
RGD:2306304 |
NCBI chr 8:119,826,332...119,828,292
Ensembl chr 8:119,826,568...119,827,629
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|
G |
Ccr9 |
C-C motif chemokine receptor 9 |
|
ISO |
mRNA, protein:increased expression:blood, mature NK T cell |
RGD |
PMID:16210593 |
RGD:5130925 |
NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969
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G |
Cd14 |
CD14 molecule |
severity no_association susceptibility |
ISO |
DNA:polymorphism:promoter:c. -260C>T (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:c. -159C>T (human) DNA:SNPs: : protein:increased expression:serum|DNA:polymorphism:promoter:c. -159C>T (human) |
CTD RGD |
PMID:17607003 PMID:15940135 PMID:15741437 PMID:19096003 PMID:16387800 PMID:18312481 More...
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RGD:4144814, RGD:4144815, RGD:4144228, RGD:4144813, RGD:4144208 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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G |
Cd1d1 |
CD1d1 molecule |
susceptibility |
ISO |
associated with fasciolopsiasis |
RGD |
PMID:20304473 |
RGD:4140417 |
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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G |
Cd209c |
CD209c molecule |
|
ISO |
|
RGD |
PMID:21471959 |
RGD:5131188 |
NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040
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G |
Cd209d |
CD209d molecule |
|
ISO |
|
RGD |
PMID:21471959 |
RGD:5131188 |
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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G |
Cd274 |
CD274 molecule |
treatment |
ISO |
associated with Chlamydia pneumonia |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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G |
Cd28 |
Cd28 molecule |
|
ISO |
|
RGD |
PMID:21356099 |
RGD:5131612 |
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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G |
Cd40 |
CD40 molecule |
treatment |
ISO IDA IEP |
|
RGD |
PMID:19220210 PMID:20205594 PMID:20205594 PMID:20941750 PMID:19159017 |
RGD:5132272, RGD:8547792, RGD:8547792, RGD:4892277, RGD:4144188 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
severity |
ISO |
|
RGD |
PMID:9502776 |
RGD:11352238 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Cd80 |
Cd80 molecule |
|
ISO |
|
RGD |
PMID:21352203 PMID:21051864 PMID:21440530 |
RGD:5132620, RGD:5132621, RGD:5132619 |
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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|
G |
Cd86 |
CD86 molecule |
treatment |
ISO IEP |
protein:increased expression:lung, alveolar macrophage (mouse) protein:increased expression:blood, B cell (human) protein:increased expression:lung, dendritic cell (rat) DNA:snp:exon:p.I179V rs2681417 (human) |
RGD |
PMID:20941750 PMID:25344652 PMID:9449507 PMID:20668438 PMID:9551945 PMID:17513529 More...
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RGD:4892277, RGD:11354965, RGD:4892555, RGD:4892199, RGD:4892202, RGD:4892280 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Cdh1 |
cadherin 1 |
|
ISO |
|
RGD |
PMID:21540309 |
RGD:5132878 |
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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|
G |
Cdhr3 |
cadherin-related family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24241537 |
|
NCBI chr 6:49,641,833...49,702,016
Ensembl chr 6:49,641,813...49,702,017
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|
G |
Cftr |
CF transmembrane conductance regulator |
susceptibility |
ISO |
DNA:deletion: :F508del(human) |
RGD |
PMID:20298391 |
RGD:4140387 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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|
G |
Chat |
choline O-acetyltransferase |
|
IEP |
Protein:decreased expression:lung epithelium |
RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
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|
G |
Chi3l1 |
chitinase 3 like 1 |
susceptibility |
ISO |
human gene in mouse model ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 7 DNA:snp:5' utr:g.-131C>G rs4950928 (human) protein:increased secretion:serum (human) |
OMIM ClinVar RGD |
PMID:18403759 PMID:19414556 PMID:19568425 PMID:18003958 |
RGD:4892663, RGD:4892630, RGD:4892632 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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G |
Chia |
chitinase, acidic |
no_association |
ISO |
DNA:snps:5' utr, cds:multiple (human) DNA:snps:multiple (human) mRNA:increased expression:lung, epithelial cell (human) mRNA:increased expression:lung (mouse) |
RGD |
PMID:16179638 PMID:20226308 PMID:19548841 PMID:15192232 PMID:14734765 |
RGD:4996473, RGD:5024922, RGD:5024921, RGD:4985150, RGD:4990463 |
NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533
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G |
Chml |
CHM like Rab escort protein |
|
ISO |
|
RGD |
PMID:18343558 |
RGD:5133238 |
NCBI chr13:87,609,647...87,619,868
Ensembl chr13:87,589,298...87,619,862
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G |
Chrm1 |
cholinergic receptor, muscarinic 1 |
|
ISO |
|
RGD |
PMID:16931638 |
RGD:5133416 |
NCBI chr 1:205,567,226...205,583,001
Ensembl chr 1:205,567,220...205,582,356
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|
G |
Chrm2 |
cholinergic receptor, muscarinic 2 |
|
ISO |
DNA:SNP: :rs6962027 (human) |
RGD |
PMID:19308904 |
RGD:5509586 |
NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
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G |
Chrm3 |
cholinergic receptor, muscarinic 3 |
severity |
ISO |
|
RGD |
PMID:20394512 PMID:18348887 |
RGD:5133437, RGD:5133438 |
NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
|
ISO |
|
RGD |
PMID:18643924 |
RGD:5133701 |
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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|
G |
Clca1 |
chloride channel accessory 1 |
susceptibility |
ISO |
DNA:SNPs (human) |
RGD |
PMID:11296262 PMID:17898169 PMID:15318163 |
RGD:4145661, RGD:4145653, RGD:4145656 |
NCBI chr 2:233,938,677...233,964,369
Ensembl chr 2:233,938,677...233,964,369
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G |
Cldn18 |
claudin 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27215490 |
|
NCBI chr 8:100,246,499...100,265,797
Ensembl chr 8:100,247,633...100,273,351
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G |
Cma1 |
chymase 1 |
severity susceptibility no_association |
ISO |
protein:increased expression:lung epithelium, mast cell (human) DNA:duplications:3' utr:g.*254-?dupTG, dupGA (human) DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human) |
RGD |
PMID:20813890 PMID:15924217 PMID:15248847 |
RGD:5128804, RGD:1625396, RGD:1625397 |
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
|
ISO |
DNA:SNP: :RS242941 (human) DNA:SNPs: :rs1876828, rs242939, rs242941 (human) |
RGD |
PMID:19663668 PMID:16113459 |
RGD:5147485, RGD:5147488 |
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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G |
Crhr2 |
corticotropin releasing hormone receptor 2 |
|
ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:18408560 |
RGD:5130938 |
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
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|
G |
Crp |
C-reactive protein |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21140796 |
RGD:5131288 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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G |
Csf2 |
colony stimulating factor 2 |
severity |
ISO |
protein:increased expression:lung protein:increased expression:sputum |
RGD |
PMID:20405019 PMID:9717963 PMID:19213775 |
RGD:5131473, RGD:10449521, RGD:5131476 |
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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G |
Csf2rb |
colony stimulating factor 2 receptor subunit beta |
|
IMP |
|
RGD |
PMID:17145927 |
RGD:1601020 |
NCBI chr 7:109,876,919...109,901,589
Ensembl chr 7:109,886,425...109,904,157
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G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:21396376 PMID:20405019 |
RGD:5133731, RGD:5131473 |
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
severity treatment no_association |
ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) DNA:SNP: :rs3087243 (human) DNA:polymorphism:promoter:-318C>T (human) DNA:SNPs:promoter, exon:-1147C>T, -318C>T, 49A>G (human) DNA:polymorphisms:promoter, exon:-318C>T 49A>G (human) |
CTD RGD |
PMID:28807506 PMID:15871446 PMID:11726402 PMID:17237396 PMID:15316504 PMID:19895365 PMID:16677453 PMID:12114354 PMID:18699801 PMID:16926542 PMID:16708626 PMID:17469155 PMID:12956753 More...
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RGD:4891529, RGD:11344922, RGD:4891514, RGD:4891519, RGD:4891526, RGD:4891517, RGD:4891522, RGD:4891510, RGD:4891528, RGD:4891516, RGD:4891527, RGD:4891521 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Ctnna3 |
catenin alpha 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19187332 |
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NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:14657873 |
RGD:4891906 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
no_association |
ISO |
DNA:SNPs: :p.V249I, rs2669849 (human) DNA:polymorphisms: :p.V249I, p.T280M (human) |
RGD |
PMID:21037587 PMID:17082760 PMID:17505143 |
RGD:4891882, RGD:4891895, RGD:4891904 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
severity |
ISO |
|
RGD |
PMID:20371397 |
RGD:5134983 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:17302903 PMID:16602032 PMID:11994485 |
RGD:5135439, RGD:5135457, RGD:5135452 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl14 |
C-X-C motif chemokine ligand 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21150878 |
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NCBI chr17:8,317,930...8,325,956
Ensembl chr17:8,317,933...8,324,839
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:20045013 |
RGD:5129686 |
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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G |
Cxcl3 |
C-X-C motif chemokine ligand 3 |
severity |
ISO |
|
RGD |
PMID:20371397 |
RGD:5134983 |
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
|
ISO |
mRNA:increased expression:bronchus epithelium |
RGD |
PMID:17234659 PMID:9620668 |
RGD:5135243, RGD:5135265 |
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
|
RGD |
PMID:15210824 |
RGD:5135447 |
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
susceptibility severity |
ISO |
DNA:SNP:intron:IVS1+234G>A (human) protein:decreased expression:respiratory system fluid/secretion, T cell |
RGD |
PMID:18094012 PMID:16043121 PMID:16548899 PMID:17641057 |
RGD:4892088, RGD:5143934, RGD:5143932, RGD:5135484 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Cyba |
cytochrome b-245 alpha chain |
susceptibility |
ISO |
DNA:polymorphism: :-930A>G (human) DNA:SNPs: :-930A>G, 242C>T, 640A>G (human) |
RGD |
PMID:19459419 PMID:18716406 |
RGD:4311041, RGD:4772770 |
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
mRNA, protein:increased expression, decreased activity:lung |
RGD |
PMID:12415424 |
RGD:4892074 |
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
|
ISO |
DNA:polymorphism: :1934G>A (human) |
RGD |
PMID:19575027 |
RGD:5143944 |
NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:113,881,618...113,891,759
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G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
mRNA:decreased expression:leukocyte CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28807506 PMID:20514434 PMID:17081494 |
RGD:4892076, RGD:4892220 |
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023
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G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
no_association severity |
ISO |
DNA:SNPs:promoter, exon:multiple (human) DNA:SNPs:promoter:-634C>T, -475A>C, -336A>G (human) DNA:SNP: :927T>C (human) mRNA, protein:increased expression:respiratory system mucosa |
RGD |
PMID:16771777 PMID:16630147 PMID:16776674 PMID:8087328 PMID:16387808 PMID:11591188 PMID:17153879 PMID:17689528 PMID:16123393 More...
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RGD:4889116, RGD:4784257, RGD:4782072, RGD:4888514, RGD:4843543, RGD:4848936, RGD:4781742, RGD:4781449, RGD:4847129 |
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
DNA:polymorphism: :601A>G (human) DNA:polymorphism: :-1220A>C (human) |
RGD |
PMID:15475736 PMID:15454733 |
RGD:5144002, RGD:5144003 |
NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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G |
Dcn |
decorin |
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IEP |
|
RGD |
PMID:16387756 |
RGD:2311423 |
NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
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G |
Defb1 |
defensin beta 1 |
susceptibility |
ISO |
DNA:SNP: :-1816 T>C (human) DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human) |
RGD |
PMID:15696078 PMID:16435024 |
RGD:4892263, RGD:4892254 |
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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G |
Dnah5 |
dynein, axonemal, heavy chain 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
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NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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G |
Dnmt1 |
DNA methyltransferase 1 |
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ISO |
DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23423710 PMID:23196709 |
RGD:9588646 |
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Dpp10 |
dipeptidyl peptidase like 10 |
|
ISO IEP |
DNA:SNPs (human) DNA:SNP: :rs10208402 (human) DNA:SNP:exon (human) protein:increased expression:bronchus |
RGD GAD |
PMID:21103062 PMID:15118671 PMID:19672052 PMID:14566338 PMID:17967935 |
RGD:4889866, RGD:1331525, RGD:4892275, RGD:4892276, RGD:4892278 |
NCBI chr13:34,584,420...36,269,292
Ensembl chr13:34,595,868...36,269,292
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G |
Ebi3 |
Epstein-Barr virus induced 3 |
|
ISO |
|
RGD |
PMID:21255010 |
RGD:5128488 |
NCBI chr 9:774,252...787,544
Ensembl chr 9:783,617...787,544
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G |
Edn1 |
endothelin 1 |
|
ISO |
Severe Persistent Allergic Asthma; protein:increased secretion:lung (human) CTD Direct Evidence: marker/mechanism DNA:transition:intron:g.4124T>C (human) |
CTD RGD |
PMID:16981460 PMID:20588001 PMID:11668616 |
RGD:4144895, RGD:4144869 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Ednra |
endothelin receptor type A |
|
ISO |
|
RGD |
PMID:17448648 PMID:18632188 |
RGD:4892322, RGD:4892288 |
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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G |
Ednrb |
endothelin receptor type B |
|
IEP ISO |
mRNA:increased expression:bronchus, smooth muscle cell DNA:polymorphism (human) |
RGD |
PMID:15245576 PMID:17470272 PMID:18632188 |
RGD:4892324, RGD:4892321, RGD:4892288 |
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Egfr |
epidermal growth factor receptor |
severity |
IEP ISO |
protein:increased expression:lung epithelium (rat) protein:increased expression:bronchial epithelium (human) protein:increased expression:lung epithelium (mouse) |
RGD |
PMID:19954006 PMID:12580917 PMID:21224214 PMID:21072743 |
RGD:5131870, RGD:5131468, RGD:5131633, RGD:5131642 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Egr1 |
early growth response 1 |
|
ISO |
mRNA:increased expression:bronchoalveolar lavage cell (human) DNA:snp:5' utr:g.-4071A>G rs7729723 (human) |
RGD |
PMID:11254538 PMID:18774390 PMID:18507785 |
RGD:5131985, RGD:5130915, RGD:5131993 |
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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G |
Elp1 |
elongator acetyltransferase complex subunit 1 |
no_association |
ISO |
|
RGD |
PMID:12774215 PMID:11281413 |
RGD:5129158, RGD:5129157 |
NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
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G |
Ephx1 |
epoxide hydrolase 1 |
susceptibility |
ISO |
DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) |
RGD |
PMID:17711870 |
RGD:4889407 |
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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G |
Epx |
eosinophil peroxidase |
severity disease_progression |
ISO |
protein:increased activity:sputum,nasal,pharyngeal mucosa |
RGD |
PMID:26645423 PMID:12199967 PMID:20813885 |
RGD:11574908, RGD:13506892, RGD:13506891 |
NCBI chr10:72,666,865...72,677,952
Ensembl chr10:72,666,865...72,677,952
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G |
Esr2 |
estrogen receptor 2 |
|
IEP |
mRNA:decreased expression:lung (rat) |
RGD |
PMID:18375789 |
RGD:8694127 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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G |
F2 |
coagulation factor II, thrombin |
|
ISO |
protein:increased expression:plasma associated with Rhinosinusitis, associated with Nasal Polyps;protein:increased expression:nasal mucus |
RGD |
PMID:21658190 PMID:21711961 |
RGD:5147753, RGD:5147783 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
F2rl1 |
F2R like trypsin receptor 1 |
|
ISO |
|
RGD |
PMID:19864598 |
RGD:4892589 |
NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226
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G |
F7 |
coagulation factor VII |
treatment |
IDA |
|
RGD |
PMID:24523826 |
RGD:11040539 |
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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G |
Fas |
Fas cell surface death receptor |
|
IEP |
mRNA:increased expression:eosinophil |
RGD |
PMID:16337971 |
RGD:1600350 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fcer1a |
Fc epsilon receptor Ia |
severity |
ISO |
Asthma symptoms persistent despite steroids in humans Fatal asthma subjects |
RGD |
PMID:20937062 PMID:21388666 |
RGD:5128717, RGD:5128711 |
NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351
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G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
protein:increased expression:alveolar macrophage |
RGD |
PMID:9117017 |
RGD:5147982 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fcgr2b |
Fc gamma receptor 2B |
|
ISO |
|
RGD |
PMID:20179765 |
RGD:11344929 |
NCBI chr13:83,191,253...83,207,778
Ensembl chr13:83,193,163...83,207,778
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G |
Fcgr3a |
Fc gamma receptor 3A |
susceptibility |
ISO |
DNA:polymorphism:exon:p.F158V(rs396991)(human) |
RGD |
PMID:18199088 |
RGD:5508449 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Fga |
fibrinogen alpha chain |
treatment |
IDA |
|
RGD |
PMID:24523826 |
RGD:11040539 |
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
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G |
Fkbp5 |
FKBP prolyl isomerase 5 |
|
ISO |
ClinVar Annotator: match by term: Asthma |
ClinVar |
|
|
NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674
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G |
Foxp3 |
forkhead box P3 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27965764 PMID:29317916 PMID:28944907 PMID:27633092 |
RGD:38549365, RGD:38548920 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Gata3 |
GATA binding protein 3 |
|
ISO IEP |
|
RGD |
PMID:9949310 PMID:18186587 |
RGD:5128802, RGD:5128803 |
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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G |
Gc |
GC, vitamin D binding protein |
|
ISO |
protein, mRNA:increased expression:bronchoalveolar lavage fluid: |
RGD |
PMID:21169467 PMID:21169467 |
RGD:5509920, RGD:5509920 |
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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G |
Gsta1 |
glutathione S-transferase alpha 1 |
susceptibility |
ISO |
DNA:polymorphism:promoter: -69C>T (human) |
RGD |
PMID:20374258 |
RGD:5490988 |
NCBI chr 9:23,703,476...23,720,121
Ensembl chr 9:23,703,477...23,720,121
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G |
Gstm1 |
glutathione S-transferase mu 1 |
resistance susceptibility |
ISO |
DNA:deletion: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16870661 PMID:18988661 PMID:17651144 PMID:21051083 PMID:11075422 |
RGD:4142509, RGD:5490962, RGD:4140921 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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|
G |
Gstm3 |
glutathione S-transferase mu 3 |
|
ISO |
DNA:polymorphism |
RGD |
PMID:17550934 PMID:11470996 |
RGD:5135038, RGD:5135039 |
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
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|
G |
Gstm5 |
glutathione S-transferase, mu 5 |
|
ISO |
DNA:polymorphism |
RGD |
PMID:11470996 PMID:17550934 |
RGD:5135038 RGD:5135039 |
NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
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G |
Gsto2 |
glutathione S-transferase omega 2 |
susceptibility |
ISO |
DNA:polymorphism:exon:p. N142D (human) |
RGD |
PMID:20374258 |
RGD:5490988 |
NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866
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|
G |
Gstp1 |
glutathione S-transferase pi 1 |
severity susceptibility disease_progression no_association |
ISO |
DNA:polymorphism:exon:p.I105V (rs1695) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:exons:p.I105V (rs1695), A114V (rs1138272) (human) DNA:SNPs:intron,exon:(rs749174), (rs1138272)(human) DNA:SNPs: :p.I105V, p.A114V (human) DNA:polymorphism:exon:p.I105V (human) DNA:SNP: :p.A114V (human) |
CTD RGD |
PMID:11994713 PMID:16870661 PMID:18988661 PMID:24117884 PMID:29411558 PMID:10806136 PMID:15693909 PMID:20210814 PMID:20858151 PMID:18057098 PMID:16176403 PMID:18787219 PMID:18709160 More...
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RGD:4142526, RGD:5490999, RGD:5490991, RGD:5490985, RGD:4140951, RGD:4142519, RGD:4140946, RGD:4140947 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:15300848 PMID:21051083 PMID:11075422 |
RGD:4142539, RGD:5490962, RGD:4140921 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
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ISO |
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RGD |
PMID:20628202 |
RGD:5128851 |
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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G |
Havcr2 |
hepatitis A virus cellular receptor 2 |
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ISO |
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RGD |
PMID:17517968 |
RGD:5135525 |
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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G |
Hdac2 |
histone deacetylase 2 |
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ISO |
mRNA:decreased expression:macrophage: |
RGD |
PMID:20538962 |
RGD:9590321 |
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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G |
Hdc |
histidine decarboxylase |
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ISO |
associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human) |
RGD |
PMID:20608921 |
RGD:5128884 |
NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
treatment |
ISO |
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RGD |
PMID:18160846 |
RGD:10402541 |
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
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ISO |
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RGD |
PMID:20084838 |
RGD:5508450 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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G |
Hmox1 |
heme oxygenase 1 |
severity |
ISO |
CTD Direct Evidence: marker/mechanism mRNA;protein:increased expression:Leukocytes, Mononuclear |
CTD RGD |
PMID:18048809 PMID:20596599 PMID:16196283 |
RGD:4145403, RGD:4145408 |
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
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G |
Hnmt |
histamine N-methyltransferase |
no_association susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma, susceptibility to | ClinVar Annotator: match by term: HNMT-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:10752634 PMID:10803682 PMID:16205835 PMID:17651147 PMID:25741868 PMID:28492532 PMID:15693910 PMID:21040557 PMID:17651147 PMID:10803682 PMID:16205835 More...
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RGD:5128888, RGD:5128883, RGD:5128885, RGD:5128881, RGD:5128887 |
NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
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G |
Hp |
haptoglobin |
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ISO |
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RGD |
PMID:21471098 PMID:21169467 |
RGD:5144151, RGD:5509920 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11932298 |
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NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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G |
Htr2a |
5-hydroxytryptamine receptor 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25322896 |
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NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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G |
Icam1 |
intercellular adhesion molecule 1 |
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ISO IEP |
mRNA:increased expression:aorta (mouse) CTD Direct Evidence: marker/mechanism protein:increased secretion:lung (human) protein:increased expression:lung, serum (rat) |
CTD RGD |
PMID:17014439 PMID:25003170 PMID:20400685 PMID:20205697 PMID:20953388 |
RGD:4145444, RGD:4145509, RGD:4145331 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Ifng |
interferon gamma |
treatment resistance |
ISO |
protein:increased expression:sputum |
RGD GAD |
PMID:20817868 PMID:12396623 PMID:15118671 PMID:19542437 PMID:20953328 |
RGD:4145651, RGD:10755706, RGD:1331525, RGD:5128479, RGD:4145525 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Ifngr1 |
interferon gamma receptor 1 |
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ISO |
DNA: SNP: Leu467Pro |
RGD |
PMID:21737883 PMID:12851715 |
RGD:6480255, RGD:6480431 |
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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G |
Ifnl1 |
interferon, lambda 1 |
exacerbates |
ISO |
associated with common cold;mRNA:decreased expression:sputum (human) associated with common cold;protein:increased expression: nasal cavity (human) |
RGD |
PMID:25784275 PMID:22135341 |
RGD:126848770, RGD:126848775 |
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
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G |
Ifnl3 |
interferon, lambda 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22295096 |
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NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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G |
Ikzf3 |
IKAROS family zinc finger 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25256354 |
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NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591
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G |
Il10 |
interleukin 10 |
treatment susceptibility |
ISO IEP IGI |
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :-627C>A (human) protein:decreased expression:plasma |
CTD RGD |
PMID:29317916 PMID:20237464 PMID:21998459 PMID:12938145 PMID:20121766 PMID:20644177 PMID:20230687 PMID:20560982 More...
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RGD:4140471, RGD:11046261, RGD:4143221, RGD:4140451, RGD:4140459, RGD:4140421, RGD:5131623 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il12a |
interleukin 12A |
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ISO |
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RGD |
PMID:17056578 PMID:17548618 |
RGD:4438438, RGD:4373570 |
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
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G |
Il12b |
interleukin 12B |
severity susceptibility |
ISO |
DNA:polymorphisms:introns: ClinVar Annotator: match by term: Asthma, susceptibility to DNA:polymorphisms:promoter, 3'utr: DNA:polymorphism:promoter |
ClinVar RGD |
PMID:15322986 PMID:15322986 PMID:16210052 PMID:12241719 |
RGD:1600043, RGD:4145438, RGD:4145428 |
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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G |
Il13 |
interleukin 13 |
susceptibility severity no_association |
ISO IMP IDA IEP |
ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism associated with Dermatitis, Atopic;DNA, protein:SNP, increased expression:promoter, serum:-1112C>T (human) DNA:polymorphism: :-1512A>C, -1112C>T, 2044G>A (human) mRNA, protein:increased expression:esophagus, Bronchoalveolar Lavage Fluid protein:increased expression:serum DNA:polymorphism:cds:p.R130Q (human) DNA:polymorphisms:promoters,exon4: rs1881457, rs1800925, rs20541 (human) DNA:polymorphism: :p. R110Q (human) DNA:SNP: :c. -646A>G (human) DNA:polymorphism: :c. 1923C>T (human) protein:increased expression:sputum DNA:polymorphism:promoter:c. -1055C>T (human) DNA:polymorphisms: :rs20541, rs1295685(human) DNA:polymorphism:3'utr:c.4738G>A (human) DNA:polymorphism: :c.-1055C>T (human) DNA:polymorphism: :c. 2044G>A (human) |
ClinVar OMIM CTD RGD |
PMID:10699178 PMID:11588017 PMID:11709756 PMID:12847555 PMID:12928861 PMID:15356556 PMID:15483090 PMID:15711639 PMID:15879126 PMID:22867017 PMID:16120094 PMID:23317483 PMID:17006604 PMID:12604708 PMID:20819635 PMID:18222984 PMID:16393274 PMID:11758895 PMID:18258919 PMID:11678850 PMID:19796199 PMID:12091879 PMID:15315330 PMID:17303794 PMID:19575932 PMID:18328894 PMID:16024972 PMID:20484924 PMID:11588017 PMID:20198887 PMID:18341619 More...
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RGD:4206706, RGD:8549509, RGD:4892639, RGD:2301686, RGD:4145453, RGD:2307110, RGD:4145508, RGD:4763153, RGD:4145639, RGD:4763761, RGD:4145601, RGD:4145664, RGD:4321828, RGD:4146241, RGD:4145775, RGD:4145777, RGD:4220633, RGD:4145534, RGD:4765128, RGD:4145593, RGD:4145776 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
no_association |
ISO |
mRNA:increased expression:bronchus DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human) DNA:polymorphism: :1398A>G (human) DNA:polymorphism: :1050C>T (human) |
RGD |
PMID:20383033 PMID:17392323 PMID:18480254 PMID:17006604 PMID:10686479 PMID:11714828 More...
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RGD:4892646, RGD:4892650, RGD:4892647, RGD:4892639, RGD:4892655, RGD:4892654 |
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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G |
Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
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ISO |
mRNA:increased expression:bronchus protein:increased expression:serum |
RGD |
PMID:20383033 PMID:21462799 PMID:17885690 |
RGD:4892646, RGD:8549521, RGD:4892649 |
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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G |
Il15 |
interleukin 15 |
no_association |
ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:19133918 PMID:16629787 PMID:11160248 PMID:15843549 PMID:15131572 |
RGD:5000760, RGD:4984421, RGD:4990462, RGD:5000757, RGD:5000758 |
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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G |
Il16 |
interleukin 16 |
no_association severity |
ISO |
DNA:SNP:promoter:-295T>C (human) associated with Rhinitis;protein:increased expression:respiratory system fluid/secretion protein:increased expression:serum |
RGD |
PMID:10585533 PMID:16387589 PMID:15784111 PMID:16734115 PMID:12872394 |
RGD:5024937, RGD:5024934, RGD:5024935, RGD:5024928, RGD:5024930 |
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
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G |
Il17a |
interleukin 17A |
susceptibility |
IEP ISO |
mRNA,protein:increased expression:Leukocytes, Mononuclear, lung, serum protein:increased expression:sputum protein:increased expression:alveolar macrophage DNA:SNP:promoter:rs2275913 (human) |
RGD |
PMID:18060619 PMID:20351038 PMID:15730730 PMID:18941201 PMID:20437253 |
RGD:4839043, RGD:4888527, RGD:4889114, RGD:4889152, RGD:4889139 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il17rb |
interleukin 17 receptor B |
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ISO |
associated with Picornaviridae Infections |
RGD |
PMID:25273095 |
RGD:39128256 |
NCBI chr16:5,180,431...5,194,125
Ensembl chr16:5,180,432...5,194,125
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G |
Il18 |
interleukin 18 |
severity susceptibility disease_progression |
ISO |
DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human) DNA:SNP:promoter:c.and -137G>C (rs187238)(human) protein:increased expression:serum DNA:SNP:promoter: c.-380C>G (rs5744247)(human) DNA:polymorphism: :c. -105A>C (human) |
RGD |
PMID:17767553 PMID:16433859 PMID:18826499 PMID:11174201 PMID:20497957 PMID:19745201 PMID:18200581 More...
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RGD:4889585, RGD:4889923, RGD:4889908, RGD:4889863, RGD:4889898, RGD:4889900, RGD:4889910 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il18r1 |
interleukin 18 receptor 1 |
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ISO |
DNA:SNP: :rs3771166 (human) DNA:SNPs: :multiple (human) |
RGD |
PMID:19910030 PMID:20860503 PMID:18382474 PMID:11972614 PMID:18774397 |
RGD:5024945, RGD:5024942, RGD:5024947, RGD:5024948, RGD:5024946 |
NCBI chr 9:42,727,416...42,760,971
Ensembl chr 9:42,727,869...42,760,715
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G |
Il19 |
interleukin 19 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15557163 |
RGD:5037236 |
NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
DNA:polymorphisms: : |
RGD |
PMID:18763028 |
RGD:4142802 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
susceptibility |
ISO |
DNA:polymorphism: :-511C>T (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:neutrophil |
CTD RGD |
PMID:9176529 PMID:18926055 PMID:19842845 PMID:19684087 |
RGD:4142864, RGD:4142830, RGD:4142836 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
susceptibility severity |
ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:SNP: :rs1420101 (human) DNA:SNPs:intron:rs1420089, rs1861245,rs1946131 (human) DNA:SNP: :rs10197862 (human) DNA:SNP: :rs1041973 (human) |
CTD RGD |
PMID:19198610 PMID:21150878 PMID:21804549 PMID:24241537 PMID:27472835 PMID:17623648 PMID:17407196 PMID:19179489 PMID:19198610 PMID:19852851 PMID:21150878 PMID:21281963 PMID:11463601 More...
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RGD:5144235, RGD:5144245, RGD:5144244, RGD:5144243, RGD:5144242, RGD:5144240, RGD:5144239, RGD:5144237 |
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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G |
Il1rn |
interleukin 1 receptor antagonist |
susceptibility severity |
ISO |
DNA:SNP: :rs2234678 (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) DNA:SNPs: :rs447713, rs3087271 (human) protein:increased expression:plasma DNA, protein:repeat, decreased expression (human) DNA:polymorphism:intron (human) |
CTD RGD |
PMID:9176529 PMID:17107994 PMID:15020290 PMID:16409203 PMID:16724092 PMID:10843772 PMID:11027520 PMID:18926055 PMID:18763028 More...
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RGD:4143208, RGD:4143216, RGD:4143163, RGD:4143209, RGD:4143225, RGD:4143224, RGD:4142864, RGD:4142802 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il2 |
interleukin 2 |
susceptibility |
ISO |
DNA:SNP:promoter:rs2069762(human) |
RGD |
PMID:20926789 PMID:16333313 |
RGD:4889118, RGD:8663473 |
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
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G |
Il21 |
interleukin 21 |
|
ISO |
DNA:SNP:exon:5250C>T (human) |
RGD |
PMID:18802358 |
RGD:5147396 |
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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G |
Il22 |
interleukin 22 |
treatment severity |
ISO IMP |
mRNA:increased expression:blood, mononuclear cell protein:increased expression:serum |
RGD |
PMID:21789181 PMID:21998459 PMID:21535180 PMID:21297073 |
RGD:5147401, RGD:11046261, RGD:5147409, RGD:5147403 |
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
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G |
Il23r |
interleukin 23 receptor |
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ISO |
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RGD |
PMID:19935773 |
RGD:5037240 |
NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021
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G |
Il25 |
interleukin 25 |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:25273095 |
RGD:39128256 |
NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
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G |
Il27 |
interleukin 27 |
susceptibility treatment |
ISO |
DNA:SNP: :g.-964A>G (human) protein:increased expression:sputum |
RGD |
PMID:17318299 PMID:26595888 PMID:17878337 PMID:19542437 PMID:20817868 |
RGD:5128485, RGD:11076728, RGD:5128491, RGD:5128479, RGD:4145651 |
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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G |
Il27ra |
interleukin 27 receptor subunit alpha |
|
ISO |
|
RGD |
PMID:16081811 |
RGD:5128496 |
NCBI chr19:24,109,963...24,121,977
Ensembl chr19:24,109,972...24,121,938
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
IDA ISO |
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RGD |
PMID:17351063 PMID:20525707 PMID:21377197 |
RGD:2325990, RGD:5147445, RGD:5147437 |
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Il2rb |
interleukin 2 receptor subunit beta |
|
ISO |
DNA:SNP: :rs2284033 (human) |
RGD |
PMID:20860503 PMID:18641329 |
RGD:5024942, RGD:5147447 |
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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G |
Il3 |
interleukin 3 |
susceptibility |
ISO |
DNA:SNP: :rs40401(human) DNA:polymorphism:cds:+79T>C(S27P)(human) |
RGD |
PMID:24684517 PMID:15372320 |
RGD:13506914, RGD:13506916 |
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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G |
Il33 |
interleukin 33 |
treatment severity |
ISO |
CTD Direct Evidence: marker/mechanism associated with viral pneumonia; associated with fungal infectious disease |
CTD RGD |
PMID:19198610 PMID:21804549 PMID:24241537 PMID:27472835 PMID:29067999 PMID:28947081 PMID:25746970 More...
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RGD:39939002, RGD:39938968 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Il4 |
interleukin 4 |
treatment no_association |
ISO IEP |
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism mRNA, protein:increase expression:leukocyte, serum protein:increased expression:lung DNA:SNP: :589C>T (human) protein:increased expression:respiratory system fluid/secretion mRNA:increased expression:lung, spleen |
CTD RGD |
PMID:18357729 PMID:21103062 PMID:24946644 PMID:24450480 PMID:18211752 PMID:20524005 PMID:21354484 PMID:21364926 PMID:21375458 More...
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RGD:4889866, RGD:10402799, RGD:10402791, RGD:2317290, RGD:5128560, RGD:5128502, RGD:5128500, RGD:5128557 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il4r |
interleukin 4 receptor |
susceptibility severity disease_progression |
ISO ISS |
DNA:mutation:cds:p.Q576R (mouse) OMIM:600807 DNA:SNPs: :multiple DNA:polymorphism:cds:p.I50V (human) DNA:SNPs:cds:p. I75V, Q576R (human) DNA:polymorphism::-1902G/A (human) protein:increased secretion:plasma|DNA:polymorphism:promoter:c.-3223C>T (human) DNA:polymorphism:cds:p.Q576R (human) DNA:SNPs:cds:p.E375A, Q551R (human) DNA:polymorphism:cds:p. S478P (human) DNA:polymorphism:cds:p.Q551R (human) |
MouseDO RGD |
PMID:19770271 PMID:17823973 PMID:18425216 PMID:12133990 PMID:20868478 PMID:11398072 PMID:15479272 PMID:12940513 PMID:17170387 PMID:11709756 PMID:20605987 PMID:20953944 PMID:16917945 PMID:17586032 More...
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RGD:4890003, RGD:4890347, RGD:4890346, RGD:4890404, RGD:4890387, RGD:4890406, RGD:4890351, RGD:4890402, RGD:4890349, RGD:4890024, RGD:5128553, RGD:5128514, RGD:4890352, RGD:4890348 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il5 |
interleukin 5 |
treatment disease_progression |
IDA ISO IEP IMP |
CTD Direct Evidence: marker/mechanism protein:increased expression:lungs, respiratory system fluid/secretion protein: increased levels: sputum protein:increased expression:respiratory system fluid/secretion DNA:polymorphism:promoter:-703C>T (human) |
CTD RGD |
PMID:7540862 PMID:23266719 PMID:17074272 PMID:25008888 PMID:11159041 PMID:22085848 PMID:22186238 PMID:15626484 PMID:15502111 PMID:9182686 PMID:18629290 PMID:9493449 PMID:19947994 More...
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RGD:4145461, RGD:11354973, RGD:5687189, RGD:5687144, RGD:5687140, RGD:4890947, RGD:4890948, RGD:4890963, RGD:4890940, RGD:4890962, RGD:4890938 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Il5ra |
interleukin 5 receptor subunit alpha |
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ISO |
DNA:SNP: :c.25091G>A (human) DNA:SNPs (human) |
RGD |
PMID:20513521 PMID:20592918 PMID:17276963 PMID:10848907 PMID:10224351 PMID:16217591 More...
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RGD:5128625, RGD:5128614, RGD:5128617, RGD:5128627, RGD:5128623, RGD:5128626 |
NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544
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Il6 |
interleukin 6 |
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ISO IEP |
CTD Direct Evidence: marker/mechanism associated with Hypersensitivity;protein:increased expression:sputum protein:increased expression:lung |
CTD RGD |
PMID:29902480 PMID:21115736 PMID:20840469 PMID:20816188 PMID:20658762 |
RGD:5128630, RGD:4143265, RGD:4143266, RGD:4143271 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Il6r |
interleukin 6 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29902480 PMID:17496315 PMID:21115736 |
RGD:5128662, RGD:5128630 |
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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G |
Il9 |
interleukin 9 |
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ISO |
protein:increased expression:respiratory system fluid/secretion protein:increased expression:sputum, macrophage, cytoplasm |
RGD |
PMID:12153980 PMID:17446528 PMID:15531759 PMID:15303135 PMID:21356110 |
RGD:5128700, RGD:5128686, RGD:5128690, RGD:5128691, RGD:5128707 |
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
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Il9r |
interleukin 9 receptor |
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ISO |
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RGD |
PMID:10629460 |
RGD:5128704 |
NCBI chr10:15,431,706...15,444,144
Ensembl chr10:15,431,706...15,441,990
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G |
Irak3 |
interleukin-1 receptor-associated kinase 3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5 | ClinVar Annotator: match by term: IRAK3-related condition |
OMIM ClinVar |
PMID:17503328 PMID:25741868 PMID:28492532 |
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NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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Irf1 |
interferon regulatory factor 1 |
no_association susceptibility |
ISO |
DNA:polymorphisms:promoter, cds:-300G>T, 4396A>G, 6355G>A (human) protein:increased expression:respiratory tract epithelium DNA:repeat:intron (human) |
RGD |
PMID:11069564 PMID:10225979 PMID:16961714 |
RGD:5128726, RGD:5128723, RGD:5128724 |
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
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Irf3 |
interferon regulatory factor 3 |
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ISO |
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RGD |
PMID:20673978 |
RGD:5128793 |
NCBI chr 1:95,479,966...95,484,926
Ensembl chr 1:95,479,821...95,484,935
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Itgb3 |
integrin subunit beta 3 |
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ISO |
DNA:SNPs: : |
RGD |
PMID:17556058 |
RGD:5037230 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Itgb6 |
integrin subunit beta 6 |
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ISS |
OMIM:600807 |
MouseDO |
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NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
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IDA |
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RGD |
PMID:21777465 |
RGD:5147661 |
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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Kdr |
kinase insert domain receptor |
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ISO |
associated with Rhinitis,Allergic,Seasonal;protein:increased expression:nasal cavity of mucosa: |
RGD |
PMID:20921519 PMID:17651148 |
RGD:5684385, RGD:8551771 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Kif3a |
kinesin family member 3a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
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NCBI chr10:37,725,930...37,761,183
Ensembl chr10:37,725,970...37,759,191
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G |
Krt19 |
keratin 19 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15478392 |
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NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799
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G |
Lep |
leptin |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:19705789 |
RGD:5128781 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lgals3 |
galectin 3 |
treatment |
ISO |
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RGD |
PMID:16424226 |
RGD:9685213 |
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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Lta |
lymphotoxin alpha |
susceptibility no_association |
ISO |
DNA:polymorphisms:promoter DNA:polymorphism:intron |
RGD |
PMID:15969671 PMID:18947013 PMID:12530118 PMID:17536219 |
RGD:4143373, RGD:4143370, RGD:4143254, RGD:4143371 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Lta4h |
leukotriene A4 hydrolase |
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IEP |
mRNA:increased expression:lung, cerebral cortex (rat) |
RGD |
PMID:15715933 |
RGD:2316607 |
NCBI chr 7:27,969,796...28,001,600
Ensembl chr 7:27,969,789...28,001,600
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
associated with Bronchiolitis;DNA:polymorphism:exon: DNA:SNP:cds:p.G54D(human) |
RGD |
PMID:22512728 PMID:22674410 |
RGD:8693709, RGD:12910828 |
NCBI chr 1:228,016,439...228,024,736
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Mefv |
MEFV innate immunity regulator, pyrin |
susceptibility |
ISO |
DNA:mutations:exons |
RGD |
PMID:18219832 |
RGD:5129186 |
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Mif |
macrophage migration inhibitory factor |
severity |
ISO IDA |
protein:increased expression:bronchoalveolar lavage fluid DNA:SNP:promoter:rs755622(human) DNA:repeats:promoter |
RGD |
PMID:9637721 PMID:17373669 PMID:19317738 PMID:16186482 PMID:16455830 |
RGD:4891043, RGD:4891035, RGD:4891059, RGD:4891052, RGD:1641985 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
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Mmp1 |
matrix metallopeptidase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24469321 |
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NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp10 |
matrix metallopeptidase 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16926187 |
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NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO IEP |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism protein:increased expression:lung DNA:SNP: : rs2664538(human) mRNA, protein:increased expression:lung |
CTD RGD |
PMID:11742282 PMID:15131573 PMID:21439806 PMID:19361849 PMID:20181264 PMID:16191269 PMID:19940022 More...
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RGD:5129204, RGD:5129687, RGD:5130859, RGD:2325953, RGD:5129522 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mpo |
myeloperoxidase |
susceptibility |
ISO |
DNA:polymorphism: :−463G > A (human) protein:increased expression:serum |
RGD |
PMID:19544176 PMID:10731862 |
RGD:5130989, RGD:5130994 |
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Ms4a2 |
membrane spanning 4-domains A2 |
susceptibility |
ISO |
DNA:SNPs:multiple:, rs573790, rs2583476, rs569108 DNA:SNPs: : rs556917, rs502581, rs502419 (human) DNA:SNP: : -109C>T (human) Atopy and bronchial hyperresponsiveness, OMIM:147050 |
RGD |
PMID:19218813 PMID:21320344 PMID:19862939 PMID:8817330 |
RGD:5131151, RGD:5131149, RGD:5131092, RGD:1599903 |
NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310
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Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:20456312 |
RGD:4891145 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Muc1 |
mucin 1, cell surface associated |
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ISO |
protein:increased expression:serum |
RGD |
PMID:11802251 |
RGD:5131281 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
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ISO |
associated with hypersensitivity |
RGD |
PMID:11062147 PMID:14594655 |
RGD:5131178, RGD:7349354 |
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
treatment |
IEP ISO |
mRNA,protein:increased expression:lung mRNA, protein:increased expression:lung |
RGD |
PMID:17590487 PMID:21549818 PMID:21780541 PMID:14594655 PMID:17698377 |
RGD:2324962, RGD:7364729, RGD:7349407, RGD:7349354, RGD:5131204 |
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
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ISO |
protein:altered expression:sputum |
RGD |
PMID:11802783 PMID:11587997 |
RGD:5131252, RGD:7364763 |
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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Myb |
MYB proto-oncogene, transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19198610 |
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NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
ameliorates |
ISO |
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RGD |
PMID:26882889 |
RGD:11531666 |
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Mylk |
myosin light chain kinase |
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ISO |
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RGD |
PMID:17472811 |
RGD:4891492 |
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Nat1 |
N-acetyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31809667 |
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NCBI chr16:22,218,217...22,238,516
Ensembl chr16:22,208,194...22,238,520
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G |
Nat2 |
N-acetyltransferase 2 |
susceptibility |
ISO |
DNA:polymorphisms: : Asthma, Aspirin-Induced; DNA:polymorphism: : |
RGD |
PMID:16924569 PMID:20602614 |
RGD:5131606, RGD:5131600 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
severity |
ISO |
mRNA:increased expression:bronchoalveolar lavage cell, peripheral blood mononuclear cell (human) |
RGD |
PMID:21514635 |
RGD:6893376 |
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
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Ngf |
nerve growth factor |
severity |
ISO |
protein:increased expression:blood, eosinophil protein:increased expression:lung, serum |
RGD |
PMID:12752594 PMID:17164945 PMID:17497413 PMID:11737043 |
RGD:4891122, RGD:4891108, RGD:4891068, RGD:4891123 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Ngfr |
nerve growth factor receptor |
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ISO |
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RGD |
PMID:16603479 PMID:12540484 |
RGD:5144070, RGD:5144072 |
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Nod1 |
nucleotide-binding oligomerization domain containing 1 |
susceptibility |
ISO |
DNA:SNP: :rs2075817 (human) DNA:insertion:cds: |
RGD |
PMID:16918516 PMID:15718249 |
RGD:5131519, RGD:5131518 |
NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
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Nod2 |
nucleotide-binding oligomerization domain containing 2 |
susceptibility |
ISO |
DNA:polymorphisms:intron, exon/3'UTR (rs1077861, rs3135500) (human) |
RGD |
PMID:16008671 PMID:21051079 |
RGD:5131477, RGD:5508757 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Nos1 |
nitric oxide synthase 1 |
susceptibility |
ISO |
DNA:repeats:exon DNA:repeats:intron DNA:repeats: : |
RGD |
PMID:10833424 PMID:14767694 PMID:10673365 PMID:20609134 |
RGD:5132860, RGD:5132615, RGD:5132869, RGD:5132863 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos2 |
nitric oxide synthase 2 |
disease_progression severity no_association |
ISO IEP IMP |
protein:increased expression:lung, bronchoalveolar lavage fluid CTD Direct Evidence: marker/mechanism protein:increased expression, increased activity:lung (rat) DNA:repeats:promoter associated with Rhinitis, Allergic, Seasonal; protein:increased expression:nasal mucosa DNA:SNP:exon:p.S608L (human) DNA:repeats:promoter, introns (human) mRNA:increased expression:monocyte DNA:repeat:promoter |
CTD RGD |
PMID:19800904 PMID:17161822 PMID:21847581 PMID:18714530 PMID:18254476 PMID:17177683 PMID:17189532 PMID:20842520 PMID:16703578 PMID:16540403 PMID:20841959 More...
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RGD:4891927, RGD:5509073, RGD:4891508, RGD:4891910, RGD:4891925, RGD:4891924, RGD:4891419, RGD:4891953, RGD:4891957, RGD:4891480 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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Nos3 |
nitric oxide synthase 3 |
susceptibility |
ISO |
DNA:snps, repeat, haplotype:promoter, introns, exons:multiple (human) DNA:polymorphisms:promoter:c. -786C>T, -691C>T (human) DNA:repeats:intron |
RGD |
PMID:18486767 PMID:16837812 PMID:16081038 |
RGD:4892053, RGD:4892058, RGD:4892062 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Npsr1 |
neuropeptide S receptor 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 2 |
OMIM CTD ClinVar RGD |
PMID:15073379 PMID:15710598 PMID:15764725 PMID:16926187 PMID:17702965 PMID:18285428 PMID:15073379 More...
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RGD:4891923, RGD:4891922, RGD:4891921 |
NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558
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Npy |
neuropeptide Y |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9731035 |
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NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
susceptibility |
ISO |
DNA:SNP:exon:c. 609C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNP:exon:c.609C>T (human) |
CTD RGD |
PMID:20049212 PMID:19027876 PMID:19591959 |
RGD:5135006, RGD:5135005 |
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
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Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
treatment susceptibility severity |
ISO IEP IDA |
DNA:polymorphism:intron protein:increased expression, decreased activity:leukocyte, mononuclear |
RGD |
PMID:18396779 PMID:28297812 PMID:20727335 PMID:21113676 PMID:18799869 PMID:15295049 More...
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RGD:4892328, RGD:408364991, RGD:7174728, RGD:4892568, RGD:4892594, RGD:4892609 |
NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375
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Ntf3 |
neurotrophin 3 |
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ISO |
protein:increased expression:lung, serum |
RGD |
PMID:11737043 PMID:17497413 |
RGD:4891123, RGD:4891068 |
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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Ntf4 |
neurotrophin 4 |
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ISO |
protein:increased expression:lung, serum |
RGD |
PMID:17497413 |
RGD:4891068 |
NCBI chr 1:95,893,560...95,896,391
Ensembl chr 1:95,893,457...95,897,243
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G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
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ISO IEP |
mRNA:increased expression:lung: |
RGD |
PMID:20934630 PMID:16708804 |
RGD:5684766, RGD:5684772 |
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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Ormdl3 |
ORMDL sphingolipid biosynthesis regulator 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21150878 PMID:25256354 |
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NCBI chr10:83,590,052...83,596,035
Ensembl chr10:83,590,071...83,598,620
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P2ry12 |
purinergic receptor P2Y12 |
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ISO |
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RGD |
PMID:22010907 PMID:19822647 |
RGD:6480532, RGD:6480533 |
NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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Parp1 |
poly (ADP-ribose) polymerase 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism protein:increased activation:lung, blood, mononuclear cell |
CTD RGD |
PMID:18261157 PMID:12594058 PMID:26205779 PMID:26205779 |
RGD:5683910, RGD:11073727, RGD:11073727 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Pdcd1 |
programmed cell death 1 |
treatment |
ISO |
associated with Chlamydia pneumonia |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
Pde4b |
phosphodiesterase 4B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
|
NCBI chr 5:116,799,819...117,369,155
Ensembl chr 5:116,799,971...117,367,696
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G |
Pde4d |
phosphodiesterase 4D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19426955 PMID:21611147 |
|
NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO IMP |
protein: increased expression |
RGD |
PMID:21216974 PMID:21216974 |
RGD:6483071, RGD:6483071 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pgf |
placental growth factor |
|
ISO |
|
RGD |
PMID:22268141 |
RGD:6483605 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
|
ISO |
|
RGD |
PMID:18754810 |
RGD:6482695 |
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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G |
Pin1 |
peptidylprolyl cis/trans isomerase, NIMA-interacting 1 |
|
IMP |
|
RGD |
PMID:18188456 |
RGD:8693422 |
NCBI chr 8:19,189,408...19,200,785
Ensembl chr 8:19,189,373...19,200,785
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G |
Pla2g4a |
phospholipase A2 group 4A |
|
IEP |
|
RGD |
PMID:15557087 |
RGD:1642462 |
NCBI chr13:61,877,818...62,022,261
Ensembl chr13:61,877,813...62,022,266
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G |
Pla2g7 |
phospholipase A2 group VII |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10733466 PMID:10733466 |
RGD:1581025 |
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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G |
Plau |
plasminogen activator, urokinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21912604 PMID:18519237 |
RGD:4892037 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Ppp2ca |
protein phosphatase 2 catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22205926 |
|
NCBI chr10:36,358,110...36,377,864
Ensembl chr10:36,358,101...36,377,862
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G |
Prf1 |
perforin 1 |
|
ISO IDA |
|
RGD |
PMID:22250087 PMID:21426642 |
RGD:6482815, RGD:6482818 |
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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G |
Prg2 |
proteoglycan 2, pro eosinophil major basic protein |
severity disease_progression no_association |
ISO |
mRNA:increased expression:eosinophil: associated with cough;protein:increased expression:sputum: associated with viral infection;mRNA:increased expression:sputum: |
RGD |
PMID:16982448 PMID:22022864 PMID:24450586 PMID:11067904 |
RGD:13506941, RGD:13506944, RGD:13506943, RGD:13506942 |
NCBI chr 3:70,062,535...70,066,102
Ensembl chr 3:70,062,535...70,066,101
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G |
Prmt1 |
protein arginine methyltransferase 1 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 1:95,458,853...95,468,176
Ensembl chr 1:95,458,850...95,468,345
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G |
Prmt2 |
protein arginine methyltransferase 2 |
|
IEP |
mRNA:increased expression:lung, spleen |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr20:12,394,748...12,420,643
Ensembl chr20:12,394,798...12,420,643
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G |
Prmt3 |
protein arginine methyltransferase 3 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 1:99,492,712...99,581,774
Ensembl chr 1:99,492,724...99,579,435
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G |
Prmt5 |
protein arginine methyltransferase 5 |
|
IEP |
mRNA:increased expression:lung, spleen |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
treatment |
ISO |
|
RGD |
PMID:26381519 |
RGD:11099992 |
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17982072 |
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NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Ptgdr |
prostaglandin D2 receptor |
susceptibility |
ISO |
|
OMIM |
|
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NCBI chr15:17,360,304...17,367,679
Ensembl chr15:17,360,304...17,367,679
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G |
Ptgdr2 |
prostaglandin D2 receptor 2 |
|
ISO |
Aspirin exacerbated asthma CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:27103662 PMID:19796209 PMID:19392992 PMID:18757520 |
RGD:5135020, RGD:5135019, RGD:5135018 |
NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213
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Ptger3 |
prostaglandin E receptor 3 |
treatment |
IMP |
|
RGD |
PMID:23221044 |
RGD:10043366 |
NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
susceptibility severity |
ISO IEP |
mRNA:increased expression:lung DNA:SNP: :8473T>C (human) mRNA, protein:increased expression:lung: DNA:SNP: :rs689465 (human) |
RGD |
PMID:19878559 PMID:15316498 PMID:17573729 PMID:18097056 PMID:18489027 PMID:19342146 PMID:19862936 More...
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RGD:5135514, RGD:5143931, RGD:5143923, RGD:5135534, RGD:5135526, RGD:5135522, RGD:5135515 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Rad50 |
RAD50 double strand break repair protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24241537 |
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NCBI chr10:37,809,353...37,861,309
Ensembl chr10:37,808,726...37,861,396
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G |
Rhoa |
ras homolog family member A |
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IEP |
|
RGD |
PMID:18391481 |
RGD:2298885 |
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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G |
Rnase3 |
ribonuclease A family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8874658 PMID:12153692 PMID:12587966 |
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NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
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G |
RT1-B |
RT1 class II, locus B |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:21814517 |
RGD:13506911 |
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G |
RT1-Ba |
RT1 class II, locus Ba |
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ISO |
DNA:polymorphisms (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism (human) |
CTD RGD |
PMID:10792356 PMID:12890388 PMID:10051703 PMID:11802952 PMID:19052351 |
RGD:5147799, RGD:1331670, RGD:5147831, RGD:5147617 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility disease_progression no_association |
ISO |
Alternaria sensitive asthma DNA:polymorphisms: : CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human) |
CTD RGD |
PMID:10792356 PMID:20298583 PMID:20159242 PMID:20214848 PMID:23331206 PMID:11802952 PMID:12890388 PMID:19052351 More...
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RGD:4144113, RGD:13506913, RGD:4144181, RGD:13506906, RGD:5147831, RGD:5147799, RGD:5147617 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
RT1-Da |
RT1 class II, locus Da |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:20159242 |
RGD:13506913 |
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility no_association severity |
ISO |
DNA:polymorphisms: : CTD Direct Evidence: marker/mechanism DNA:polymorphism (human) |
CTD RGD |
PMID:16792590 PMID:19528258 PMID:20159242 PMID:23331206 PMID:10051703 PMID:19439981 PMID:20486920 PMID:20214848 More...
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RGD:4144196, RGD:13506913, RGD:13506906, RGD:1331670, RGD:5147663, RGD:5147607, RGD:4144181 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
RT1-Ha |
RT1 class II, locus Ha |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:21814517 |
RGD:13506911 |
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
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G |
RT1-Hb-ps1 |
RT1 class II, locus Hb, pseudogene 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:polymorphisms: : |
CTD RGD |
PMID:16792590 PMID:17956852 PMID:21814517 |
RGD:13506911 |
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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G |
RT1-M3-1 |
RT1 class Ib, locus M3, gene 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM RGD |
PMID:15611928 |
RGD:5144118 |
NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
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G |
Runx1 |
RUNX family transcription factor 1 |
|
ISO |
DNA:SNPs: :multiple |
RGD |
PMID:21803869 |
RGD:6482835 |
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
Runx3 |
RUNX family transcription factor 3 |
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ISS |
OMIM:600807 |
MouseDO |
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NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
susceptibility |
IEP ISO |
mRNA,protein:decreased expression:bronchial alveolar lavage fluid, lung: ClinVar Annotator: match by term: Asthma, susceptibility to associated with allergic rhinitis; DNA:SNP:exon:38G>A (human) protein:decreased expression:serum |
ClinVar RGD |
PMID:9550363 PMID:9643286 PMID:12100044 PMID:12921604 PMID:21255142 PMID:15467329 More...
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RGD:5144052, RGD:5144226, RGD:5144148 |
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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G |
Scgb3a2 |
secretoglobin, family 3A, member 2 |
susceptibility severity no_association |
ISO |
DNA:SNP:promoter:-112G>A (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma, susceptibility to mRNA,protein:decreased expression:;lung protein:increased expression:sputum |
CTD OMIM ClinVar RGD |
PMID:11813133 PMID:11813133 PMID:15531759 PMID:16456148 PMID:17218572 PMID:18089940 PMID:18201431 More...
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RGD:5144229, RGD:5128690, RGD:5144233, RGD:5144232, RGD:5144231, RGD:5144230 |
NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762
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G |
Sell |
selectin L |
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ISO |
|
RGD |
PMID:21437035 PMID:21515793 |
RGD:5685685, RGD:5685696 |
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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G |
Serpina1 |
serpin family A member 1 |
|
IEP |
Fisher rats, shown to exhibit hyperactive airway responses at 14 days of age, had higher transcript and protein levels of Serpina1 than same age Brown Norway rats. |
RGD |
PMID:20118217 |
RGD:5131869 |
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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G |
Serpine1 |
serpin family E member 1 |
susceptibility no_association severity |
IEP ISO |
protein:increased activity, increased expression:plasma, lung DNA:polymorphism:promoter:rs1799768 (human) protein:increased expression:plasma |
RGD |
PMID:18594148 PMID:19063817 PMID:19604112 PMID:19703828 |
RGD:4144836, RGD:4144832, RGD:4144833, RGD:4144831 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Sftpa1 |
surfactant protein A1 |
|
IEP ISO |
protein:decreased expression:lung, Clara cell, pneumocyte mRNA, protein:increased expression:lung |
RGD |
PMID:15816355 PMID:16629790 PMID:18802356 PMID:18926058 |
RGD:4143398, RGD:4143462, RGD:4143516, RGD:4143289 |
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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G |
Sftpb |
surfactant protein B |
|
ISO IEP |
protein:increased expression:lung mRNA, protein:decreased expression:lung protein:decreased expression:lung, Clara cell |
RGD |
PMID:16629790 PMID:11472974 PMID:18926058 PMID:15816355 |
RGD:4143462, RGD:4143465, RGD:4143289, RGD:4143398 |
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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G |
Sftpc |
surfactant protein C |
susceptibility |
ISO |
mRNA, protein:decreased expression:lung protein:increased expression:lung DNA:polymorphism: :p.A53T (human) |
RGD |
PMID:11472974 PMID:16629790 PMID:19910179 |
RGD:4143465, RGD:4143462, RGD:4144063 |
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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G |
Sftpd |
surfactant protein D |
|
ISO IEP |
protein:increased expression:lung associated with Bronchitis;protein:increased expression:lung mRNA, protein:increased expression:lung |
RGD |
PMID:16629790 PMID:11472974 PMID:18266831 PMID:16839409 PMID:18802356 |
RGD:4143462, RGD:4143465, RGD:4143517, RGD:4143508, RGD:4143516 |
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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G |
Slc11a1 |
solute carrier family 11 member 1 |
|
ISO |
|
RGD |
PMID:12847242 |
RGD:5684966 |
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Slc18a3 |
solute carrier family 18 member A3 |
|
IEP |
|
RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr16:7,713,630...7,716,491
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G |
Slc22a1 |
solute carrier family 22 member 1 |
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IEP |
|
RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
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G |
Slc5a7 |
solute carrier family 5 member 7 |
|
IEP |
mRNA:decreased expression:lung |
RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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G |
Slc6a4 |
solute carrier family 6 member 4 |
susceptibility |
ISO |
DNA:repeat:intron (human) |
RGD |
PMID:19806585 |
RGD:4889460 |
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22867017 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
|
RGD |
PMID:15743779 |
RGD:1581231 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sprr2b |
small proline rich protein 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
|
NCBI chr 2:177,852,824...177,853,096
Ensembl chr 2:177,852,824...177,853,096
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G |
Stat4 |
signal transducer and activator of transcription 4 |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28807506 PMID:18211752 |
RGD:2317290 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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G |
Stat6 |
signal transducer and activator of transcription 6 |
treatment |
IEP IDA |
|
RGD |
PMID:19087723 PMID:16083555 |
RGD:7244151, RGD:7244153 |
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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G |
Tac1 |
tachykinin, precursor 1 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:11031342 |
RGD:5147836 |
NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
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G |
Tacr1 |
tachykinin receptor 1 |
|
IEP ISO |
protein:increased expression:lung mRNA:increased expression:lung mRNA,protein:increased expression:lung |
RGD |
PMID:17392578 PMID:8240667 PMID:16409782 |
RGD:2304339, RGD:5147645, RGD:5147475 |
NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
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G |
Tacr2 |
tachykinin receptor 2 |
|
ISO |
DNA:SNP:cds:p.G231E (human) |
RGD |
PMID:20175803 PMID:19880429 |
RGD:5147640, RGD:5147641 |
NCBI chr20:30,208,907...30,223,446
Ensembl chr20:30,208,907...30,223,446
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G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:12640628 |
RGD:5147845 |
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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G |
Tbx21 |
T-box transcription factor 21 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:600807 |
CTD MouseDO |
PMID:15806396 |
|
NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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G |
Tbxa2r |
thromboxane A2 receptor |
susceptibility severity |
ISO |
ClinVar Annotator: match by term: Asthma DNA:polymorphism:cds:924T>C(human) |
ClinVar RGD |
PMID:2955539 PMID:7929844 PMID:8428006 PMID:8613548 PMID:15118671 PMID:12000493 PMID:15805995 More...
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RGD:1331525, RGD:11059535, RGD:11059534 |
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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G |
Tgfb1 |
transforming growth factor, beta 1 |
onset no_association |
ISO IEP |
DNA:SNP: :-509C>T (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:promoter, exon:multiple (human) DNA:SNP:cds:915G>C (human) mRNA:increased expression:lung protein:increased expression:serum DNA:polymorphisms: :multiple (human) DNA:polymorphism: :-509C>T (human) |
CTD RGD |
PMID:16365456 PMID:19138248 PMID:17673695 PMID:18366906 PMID:19096005 PMID:19620629 PMID:19046298 PMID:20485865 PMID:19317336 PMID:19136038 PMID:18711258 PMID:19222424 PMID:19533439 More...
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RGD:4145295, RGD:4145280, RGD:4145143, RGD:4145132, RGD:4145142, RGD:4145113, RGD:4145139, RGD:4145144, RGD:4143443, RGD:4145299, RGD:4145297 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Thbd |
thrombomodulin |
|
ISO |
|
RGD |
PMID:20709825 |
RGD:5684984 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16926187 |
|
NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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G |
Tlr1 |
toll-like receptor 1 |
susceptibility |
ISO |
DNA:SNP (human) |
RGD |
PMID:18547625 |
RGD:4889528 |
NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125
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|
G |
Tlr10 |
toll-like receptor 10 |
susceptibility |
ISO |
DNA:SNP (human) |
RGD |
PMID:18547625 |
RGD:4889528 |
NCBI chr14:43,400,843...43,414,056
Ensembl chr14:43,406,217...43,413,917
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|
G |
Tlr2 |
toll-like receptor 2 |
susceptibility severity |
ISO |
DNA:SNP: :596T>C (human) DNA:polymorphism:cds:p.R753Q(human) DNA:SNP: :rs3804100 (human) DNA:SNP: :rs7656411 (human) DNA:SNP: :rs4696480 (human) |
RGD |
PMID:19096003 PMID:22402138 PMID:19148143 PMID:18202345 PMID:20815312 PMID:20685742 PMID:18787777 More...
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RGD:4144228, RGD:7800732, RGD:2312679, RGD:4145343, RGD:4145352, RGD:4144171, RGD:4145334 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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|
G |
Tlr3 |
toll-like receptor 3 |
no_association |
ISO IMP |
Asthma, Virus-Induced; mRNA:increased expression:sputum (human) DNA:snp:cds:p.L412F (human) |
RGD |
PMID:21129050 PMID:17434873 PMID:14987294 PMID:17610940 PMID:21364926 |
RGD:5129226, RGD:5129478, RGD:5129493, RGD:5129475, RGD:5128500 |
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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|
G |
Tlr4 |
toll-like receptor 4 |
susceptibility no_association severity |
ISO |
DNA:Polymorphism:cds:p.D299G (human) DNA:SNPs:: protein:decreased expression:leukocytes, mononuclear DNA:SNPs: :rs10983755, rs1927914 (human) DNA:polymorphisms:cds:c.896A>G, 1196C>T (human) |
RGD |
PMID:15356557 PMID:20628601 PMID:20685742 PMID:19067129 PMID:19330007 PMID:19159017 PMID:16266379 More...
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RGD:4144817, RGD:4144176, RGD:4144171, RGD:4144190, RGD:4144141, RGD:4144188, RGD:4144198 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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|
G |
Tlr6 |
toll-like receptor 6 |
susceptibility |
ISO |
DNA:SNP (human) DNA:SNP: :p.S249P (human) |
RGD |
PMID:18547625 PMID:15266299 |
RGD:4889528, RGD:4889538 |
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
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|
G |
Tlr9 |
toll-like receptor 9 |
no_association susceptibility severity |
ISO |
DNA:SNP:promoter:g.-1237T>C rs5743836 (human) DNA:snp:promoter:g.-1237T>C rs5743836 (human) protein:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:21324137 PMID:18312481 PMID:20016192 PMID:20072849 |
RGD:5130712, RGD:4144208, RGD:5129104, RGD:4889523 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Tnc |
tenascin C |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) protein:increased expression:bronchus basement membrane DNA:SNP:exon:p.L1677I (human) |
CTD RGD |
PMID:16115819 PMID:17125141 PMID:18305139 PMID:9310019 PMID:16115819 |
RGD:4889565, RGD:4889589, RGD:4889572, RGD:4889569 |
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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|
G |
Tnf |
tumor necrosis factor |
susceptibility no_association |
ISO |
DNA:polymorphism:promoter: c. -308A>G (human) ClinVar Annotator: match by term: Asthma, susceptibility to CTD Direct Evidence: marker/mechanism associated with obesity; DNA:polymorphism:promoter DNA:polymorphisms:: rs1799964, rs1799724 (human) DNA:polymorphisms: : associated with nasal polys; protein:increased expression:nose DNA:polymorphism:promoter:c.-863C > A (human) |
OMIM ClinVar CTD RGD |
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 PMID:11826025 PMID:11896460 PMID:12356572 PMID:12485196 PMID:12746914 PMID:12759288 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16456144 PMID:16720636 PMID:16865291 PMID:16909270 PMID:17450233 PMID:18050183 PMID:18713756 PMID:19365401 PMID:20049212 PMID:22760475 PMID:22992668 PMID:18711258 PMID:19196817 PMID:16393274 PMID:12530118 PMID:18811622 PMID:18763028 PMID:20465535 PMID:16728705 More...
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RGD:4143443, RGD:4143238, RGD:4145508, RGD:4143254, RGD:4143240, RGD:4142802, RGD:4143369, RGD:4143372 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
protein:increased expression:lung (mouse) |
RGD |
PMID:20484920 |
RGD:5131201 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnip1 |
TNFAIP3 interacting protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24453940 |
|
NCBI chr10:39,037,048...39,084,328
Ensembl chr10:39,037,058...39,077,625
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|
G |
Trpa1 |
transient receptor potential cation channel, subfamily A, member 1 |
severity |
ISO IMP |
CTD Direct Evidence: marker/mechanism ovalbumin sensitization |
CTD RGD |
PMID:19458046 PMID:31969645 |
RGD:127285811 |
NCBI chr 5:4,379,862...4,434,133
Ensembl chr 5:4,379,999...4,433,570
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|
G |
Trpa1em1Gne |
transient receptor potential cation channel, subfamily A, member 1;CRISPR/Cas9 induced mutant 1, Gne |
severity |
IMP |
ovalbumin sensitization |
RGD |
PMID:31969645 |
RGD:127285811 |
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G |
Tslp |
thymic stromal lymphopoietin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21804549 |
|
NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Ucn |
urocortin |
|
IEP |
associated with Hypersensitivity;mRNA, protein:increased expression:lung |
RGD |
PMID:16427607 |
RGD:1642781 |
NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950
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|
G |
Uts2 |
urotensin 2 |
|
IEP |
|
RGD |
PMID:17045018 |
RGD:2306832 |
NCBI chr 5:161,450,846...161,456,235
Ensembl chr 5:161,450,846...161,456,237
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|
G |
Vdr |
vitamin D receptor |
no_association |
ISO |
DNA:SNP: :rs7975232 (human) DNA:SNPs (human) DNA:SNP (human) DNA:SNPs: :multiple (human) |
RGD |
PMID:19622139 PMID:20124605 PMID:21103062 PMID:15282200 |
RGD:4889868, RGD:4889867, RGD:4889866, RGD:4889854 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:sputum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11907124 PMID:15201500 PMID:19263519 PMID:19178538 |
RGD:6892723 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Vip |
vasoactive intestinal peptide |
|
IDA ISO |
|
RGD |
PMID:21419198 PMID:16782752 |
RGD:5685381, RGD:5685620 |
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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G |
Wdr36 |
WD repeat domain 36 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19198610 |
|
NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092
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|
|
G |
RT1-Da |
RT1 class II, locus Da |
susceptibility |
ISO |
DNA:SNPs,haplotype:introns: |
RGD |
PMID:22391069 |
RGD:13506908 |
NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455
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G |
Tbx21 |
T-box transcription factor 21 |
|
ISO |
ClinVar Annotator: match by term: Asthma and nasal polyps |
ClinVar |
PMID:15806396 |
|
NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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|
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G |
Alox15 |
arachidonate 15-lipoxygenase |
|
ISO |
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance |
ClinVar |
PMID:17959182 PMID:21558275 PMID:25741868 PMID:30643255 |
|
NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874
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G |
Ltc4s |
leukotriene C4 synthase |
|
ISO |
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance |
ClinVar |
PMID:25741868 |
|
NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
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|
G |
Ptger2 |
prostaglandin E receptor 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
|
NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714
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|
G |
Tbx21 |
T-box transcription factor 21 |
|
ISO |
ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:25741868 |
|
NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831
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|
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G |
Adrb2 |
adrenoceptor beta 2 |
|
ISO |
|
RGD |
PMID:17687719 |
RGD:4145098 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
severity |
ISO |
protein:increased expression:nasal mucus associated with Respiratory Syncytial Virus Infections |
RGD |
PMID:17297249 PMID:15681407 |
RGD:4145460, RGD:4145415 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Cd40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:19470255 |
RGD:5132271 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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|
G |
Cd86 |
CD86 molecule |
|
ISO |
protein:decreased expression:myeloid dendritic cell (mouse) |
RGD |
PMID:20046053 |
RGD:4892291 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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|
G |
Crp |
C-reactive protein |
severity |
ISO |
|
RGD |
PMID:21284715 |
RGD:5131282 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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|
G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
|
ISO |
associated with Pneumovirus Infections |
RGD |
PMID:16337014 |
RGD:4843953 |
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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G |
Il17a |
interleukin 17A |
susceptibility |
ISO |
DNA:SNP:promoter:rs2275913 (human) |
RGD |
PMID:20437253 |
RGD:4889139 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il1b |
interleukin 1 beta |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:8608647 |
RGD:4143192 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:8608647 |
RGD:4143192 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
|
ISO |
DNA:polymorphisms:promoter:rs885454,rs17235353, rs7115457 (human) |
RGD |
PMID:15709052 |
RGD:7349353 |
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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G |
Ace |
angiotensin I converting enzyme |
|
IMP |
|
RGD |
PMID:17097496 |
RGD:4140933 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Adora2a |
adenosine A2a receptor |
|
ISO |
|
RGD |
PMID:19766783 |
RGD:4890362 |
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
ISO |
|
RGD |
PMID:18785972 |
RGD:4145604 |
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
IMP |
|
RGD |
PMID:14611812 |
RGD:2307195 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl22 |
C-C motif chemokine ligand 22 |
|
ISO |
|
RGD |
PMID:20628341 |
RGD:4891471 |
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
IEP IMP |
mRNA:increased expression:lung (rat) |
RGD |
PMID:19840961 PMID:14611812 |
RGD:4889978, RGD:2307195 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
IEP |
protein:increased expression:bronchoalveolar Lavage fluid |
RGD |
PMID:22215510 |
RGD:6483763 |
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
mRNA:increased expression:trachea: |
RGD |
PMID:11518728 |
RGD:4145124 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Cd86 |
CD86 molecule |
|
IMP |
|
RGD |
PMID:11266944 |
RGD:2307206 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Csf2 |
colony stimulating factor 2 |
|
IEP |
associated with Respiratory Aspiration;protein:increased expression:serum |
RGD |
PMID:18557728 |
RGD:2317286 |
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:16709871 PMID:12097412 PMID:12097412 |
RGD:5135441, RGD:5135451, RGD:5135451 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl11 |
C-X-C motif chemokine ligand 11 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:12097412 PMID:12097412 |
RGD:5135451, RGD:5135451 |
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:16709871 PMID:12097412 PMID:12097412 |
RGD:5135441, RGD:5135451, RGD:5135451 |
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
|
RGD |
PMID:16709871 PMID:12097412 |
RGD:5135441, RGD:5135451 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Edn1 |
endothelin 1 |
|
ISO |
human gene in a rat model |
RGD |
PMID:9595474 |
RGD:8662402 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Foxp3 |
forkhead box P3 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:19840961 |
RGD:4889978 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Gzmb |
granzyme B |
|
ISO |
|
RGD |
PMID:19737140 |
RGD:5135518 |
NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
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|
G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
|
RGD |
PMID:12973103 |
RGD:4145412 |
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
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|
G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16137903 |
|
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il13 |
interleukin 13 |
|
ISO |
protein:increased expression:bronchoalveolar lavage fluid |
RGD |
PMID:17182591 |
RGD:4146242 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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|
G |
Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
|
ISO |
|
RGD |
PMID:17182591 |
RGD:4146242 |
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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G |
Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
|
ISO |
|
RGD |
PMID:17182591 |
RGD:4146242 |
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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G |
Il17a |
interleukin 17A |
|
ISO |
mRNA:increased expression:trachea |
RGD |
PMID:20393404 |
RGD:4143277 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:11889437 |
RGD:4143176 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il4 |
interleukin 4 |
|
IEP |
protein:increased expression:serum |
RGD |
PMID:18557728 |
RGD:2317286 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il6 |
interleukin 6 |
|
ISO |
|
RGD |
PMID:20393404 |
RGD:4143277 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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|
G |
Mbl2 |
mannose binding lectin 2 |
resistance |
ISO |
DNA:transversion:5' utr:-290C>G rs7096206 (human) |
RGD |
PMID:19104434 |
RGD:4889456 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression, increased activity:bronchoalveolar lavage fluid |
RGD |
PMID:20417130 |
RGD:5130759 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Muc1 |
mucin 1, cell surface associated |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:16969297 |
RGD:5131273 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
ISO |
|
RGD |
PMID:18158963 |
RGD:5131450 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
associated with lung transplantation; protein:increased expression:lung |
RGD |
PMID:11112135 |
RGD:4892082 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
|
IEP |
protein:increased expression:lung |
RGD |
PMID:15136885 |
RGD:4892068 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
|
ISO |
associated with lung transplantation; protein:decreased expression:serum,bronchoalveolar lavage |
RGD |
PMID:11981419 |
RGD:5147386 |
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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G |
Sftpd |
surfactant protein D |
|
ISO |
|
RGD |
PMID:18347569 |
RGD:4143500 |
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
DNA:SNPs:promoter, 3' utr:g.-1485C>T (rs187084), rs352162 (human) |
RGD |
PMID:20227302 |
RGD:5130722 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:14593914 |
RGD:4889126 |
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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G |
Egr1 |
early growth response 1 |
|
ISO |
|
RGD |
PMID:17384085 |
RGD:5132266 |
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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G |
Hdac2 |
histone deacetylase 2 |
treatment |
IEP |
|
RGD |
PMID:22708526 |
RGD:9590258 |
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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G |
Ifng |
interferon gamma |
resistance |
ISO |
|
RGD |
PMID:20953328 |
RGD:4145525 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Nfkbia |
NFKB inhibitor alpha |
exacerbates |
ISO |
associated with respiratory syncytial virus infectious disease;DNA:SNPs:protomer: (rs2233409) (human) |
RGD |
PMID:23487427 |
RGD:40902982 |
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Ngf |
nerve growth factor |
treatment |
IMP |
|
RGD |
PMID:30681402 |
RGD:405100716 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
|
ISO |
|
RGD |
PMID:11991282 |
RGD:4145442 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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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:4140484, RGD:4140475 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:19386687 |
RGD:4891509 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:15928955 |
RGD:4142512 |
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:14593914 |
RGD:4889126 |
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023
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G |
Edn1 |
endothelin 1 |
|
ISO |
Chronic Allergic Airway Inflammation; protein:increased secretion:bronchoalveolar lavage (mouse) |
RGD |
PMID:18631350 |
RGD:4145074 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Gc |
GC, vitamin D binding protein |
susceptibility |
ISO |
|
RGD |
PMID:12096683 |
RGD:5129516 |
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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G |
Gstm1 |
glutathione S-transferase mu 1 |
severity |
ISO |
DNA:deletion: : DNA:deletion, haplotype: : (human) |
RGD |
PMID:9187680 PMID:15125256 |
RGD:4142513, RGD:12798508 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:15928955 |
RGD:4142512 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
IEP |
protein:increased expression:bronchial epithelium (rat) |
RGD |
PMID:19507274 |
RGD:2308951 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Il10 |
interleukin 10 |
|
IEP |
protein:decreased expression:lung |
RGD |
PMID:19507274 |
RGD:2308951 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il13 |
interleukin 13 |
|
ISO |
protein:increased expression:Respiratory Mucosa |
RGD |
PMID:14582911 |
RGD:4759835 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il15 |
interleukin 15 |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:11742275 |
RGD:4990461 |
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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G |
Mpo |
myeloperoxidase |
|
IEP |
protein:increased expression:lung |
RGD |
PMID:11798689 |
RGD:5130990 |
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Nos2 |
nitric oxide synthase 2 |
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IDA |
|
RGD |
PMID:19938219 |
RGD:4891494 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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G |
Npy |
neuropeptide Y |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9731035 |
|
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19263519 |
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NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Abcc1 |
ATP binding cassette subfamily C member 1 |
severity |
ISO |
mRNA:decreased expression:respiratory epithelial cell DNA:SNPs: :rs212093, rs4148382 (human) |
RGD |
PMID:12930913 PMID:20487524 |
RGD:5128827, RGD:5128824 |
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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G |
Ace |
angiotensin I converting enzyme |
susceptibility disease_progression |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:20096799 PMID:20156752 PMID:19493329 |
RGD:4140487, RGD:4140480, RGD:4140912 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Adam33 |
ADAM metallopeptidase domain 33 |
no_association susceptibility |
ISO |
DNA:polymorphisms: :multiple (human) DNA:polymorphisms (human) |
RGD |
PMID:19284602 PMID:20156753 PMID:20003279 |
RGD:4145361, RGD:4145358, RGD:4145357 |
NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461
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G |
Adam9 |
ADAM metallopeptidase domain 9 |
|
ISO |
protein:increased expression:pulmonary artery |
RGD |
PMID:36522710 |
RGD:401850545 |
NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
disease_progression |
ISO |
associated with Metabolic Syndrome X;protein:decreased expression:serum |
RGD |
PMID:22207678 PMID:21179920 |
RGD:5686379, RGD:5686825 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Adora2a |
adenosine A2a receptor |
|
ISO |
|
RGD |
PMID:16339780 |
RGD:4890385 |
NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
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G |
Adrb1 |
adrenoceptor beta 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to |
ClinVar RGD |
PMID:10212248 PMID:12374873 PMID:16844790 PMID:17496726 PMID:11527135 |
RGD:5129114 |
NCBI chr 1:265,777,103...265,780,114
Ensembl chr 1:255,771,597...255,807,259
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G |
Adrb2 |
adrenoceptor beta 2 |
disease_progression severity no_association |
ISO |
protein:decreased expression:blood, sputum, mononuclear cell DNA:SNP: :p.R16G (human) DNA:SNPs: :p.R16G, p.Q27E (human) DNA:SNPs: :rs1042717, rs1042718 (human) DNA:polymorphism: :p.Q27E (human) |
RGD |
PMID:11527135 PMID:19080468 PMID:20211002 PMID:18789663 PMID:18667995 PMID:19747908 PMID:20525719 PMID:19293197 More...
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RGD:5129114, RGD:4145086, RGD:4144899, RGD:4145093, RGD:4145095, RGD:4145080, RGD:4140935, RGD:4145082 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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G |
Ager |
advanced glycosylation end product-specific receptor |
|
ISO |
ClinVar Annotator: match by term: COPD, severe early onset |
ClinVar RGD |
PMID:20133931 |
RGD:6767312 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Ang |
angiogenin |
|
ISO |
protein:increased expression:sputum |
RGD |
PMID:21916917 |
RGD:6892708 |
NCBI chr15:24,312,711...24,323,361
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G |
Arnt2 |
aryl hydrocarbon receptor nuclear translocator 2 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to |
ClinVar |
|
|
NCBI chr 1:138,236,235...138,392,868
Ensembl chr 1:138,189,940...138,393,153
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G |
Bambi |
BMP and activin membrane-bound inhibitor |
|
ISO |
mRNA:increased expression:CD4+ T : |
RGD |
PMID:27549738 |
RGD:14390164 |
NCBI chr17:54,121,251...54,125,816
Ensembl chr17:54,121,255...54,126,060
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G |
Bcl2l1 |
Bcl2-like 1 |
|
ISO |
mRNA:increased expression:peripheral blood, neutrophil (human) |
RGD |
PMID:22686245 |
RGD:11353864 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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G |
Bdkrb2 |
bradykinin receptor B2 |
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ISO |
|
RGD |
PMID:16600946 |
RGD:4890451 |
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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G |
Bmal2 |
basic helix-loop-helix ARNT like 2 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to |
ClinVar |
|
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NCBI chr 4:179,699,432...179,747,710
Ensembl chr 4:179,699,502...179,746,949
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G |
Bnip3 |
BCL2 interacting protein 3 |
treatment |
IEP |
|
RGD |
PMID:25888379 |
RGD:11561985 |
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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G |
C3 |
complement C3 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:17975205 |
RGD:5129504 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
C5 |
complement C5 |
severity |
ISO |
protein:increased expression:sputum |
RGD |
PMID:20500690 |
RGD:5129705 |
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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G |
C5ar1 |
complement C5a receptor 1 |
|
ISO |
protein:increased expression:lung, mast cell |
RGD |
PMID:19926870 |
RGD:5130165 |
NCBI chr 1:76,948,622...76,959,826
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G |
Casp12 |
caspase 12 |
treatment |
IEP |
|
RGD |
PMID:24694971 |
RGD:13782182 |
NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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G |
Casp3 |
caspase 3 |
treatment |
IEP |
|
RGD |
PMID:28496315 |
RGD:13782303 |
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
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G |
Casp8 |
caspase 8 |
treatment |
IEP |
|
RGD |
PMID:28496315 |
RGD:13782303 |
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Cat |
catalase |
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ISO |
|
RGD |
PMID:20080081 |
RGD:4293707 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccl1 |
C-C motif chemokine ligand 1 |
severity |
ISO |
DNA:SNP:enhancer:rs2282691 (human) |
RGD |
PMID:16864713 |
RGD:4891410 |
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
severity |
ISO |
|
RGD |
PMID:19925666 |
RGD:4145389 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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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 chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:34652871 PMID:20497022 |
RGD:4891429 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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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 chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
|
RGD |
PMID:17868461 PMID:11475557 |
RGD:5130900, RGD:5130901 |
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
mRNA, protein:increased expression:lung, bronchial epithelium, submucosa (human) |
RGD |
PMID:19703829 |
RGD:4891477 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
ISO |
mRNA,protein:increased expression:macrophage |
RGD |
PMID:21327296 |
RGD:6483765 |
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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G |
Ccn2 |
cellular communication network factor 2 |
|
IEP |
mRNA, protein:increased expression:lung (rat) |
RGD |
PMID:19659652 |
RGD:2314483 |
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion, neutrophil |
RGD |
PMID:19017998 |
RGD:4145632 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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|
G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
ISO |
protein:increased expression:blood (human) |
RGD |
PMID:19229703 |
RGD:4892070 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd28 |
Cd28 molecule |
|
ISO |
CD28 null allele is increased in COPD |
RGD |
PMID:19220836 PMID:18057064 |
RGD:5131618, RGD:5131620 |
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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G |
Cd40 |
CD40 molecule |
severity |
ISO |
|
RGD |
PMID:20699612 |
RGD:5490968 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd80 |
Cd80 molecule |
|
ISO |
|
RGD |
PMID:19729666 |
RGD:4892292 |
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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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:4892292, RGD:4891504 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Cd8a |
CD8 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17950725 |
|
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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|
G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35303175 |
|
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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|
G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35303175 |
|
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cftr |
CF transmembrane conductance regulator |
disease_progression |
ISO |
DNA:polymorphism:cds:p.M470V(human) |
RGD |
PMID:18652532 |
RGD:4140431 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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G |
Chi3l1 |
chitinase 3 like 1 |
|
ISO |
protein:increased secretion:serum (human) |
RGD |
PMID:20656949 |
RGD:4892658 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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G |
Chrm3 |
cholinergic receptor, muscarinic 3 |
|
ISO |
|
RGD |
PMID:19281093 |
RGD:5133441 |
NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
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|
G |
Chrna3 |
cholinergic receptor nicotinic alpha 3 subunit |
susceptibility disease_progression |
ISO |
associated with smoking; DNA:SNP::rs1051730(human) DNA:SNP: :rs12910984(human) DNA:SNP: :rs6495309(human) associated with smoking; DNA:SNP: :rs1051730(human) |
RGD |
PMID:29993116 PMID:23207642 PMID:23056235 PMID:22441734 PMID:26751916 |
RGD:150526806, RGD:151347538, RGD:151347536, RGD:151347455, RGD:150527850 |
NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165
|
|
G |
Chrna5 |
cholinergic receptor nicotinic alpha 5 subunit |
susceptibility |
ISO |
associated with lung cancer; DNA:SNP::rs16969968 (human) associated with smoking; DNA:SNP::rs16969968 (human) |
RGD |
PMID:33419953 PMID:29993116 |
RGD:150524357, RGD:150526806 |
NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
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G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
disease_progression |
ISO |
DNA:CNV:: CNV-3956(human) |
RGD |
PMID:25407004 |
RGD:11074492 |
NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
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G |
Chrnb4 |
cholinergic receptor nicotinic beta 4 subunit |
|
ISO |
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease |
ClinVar |
|
|
NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
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G |
Clca1 |
chloride channel accessory 1 |
severity |
ISO |
mRNA:increased expression:bronchus DNA:SNPs: :multiple (human) |
RGD |
PMID:17637221 PMID:14985398 |
RGD:4145655, RGD:1331524 |
NCBI chr 2:233,938,677...233,964,369
Ensembl chr 2:233,938,677...233,964,369
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G |
Cma1 |
chymase 1 |
|
ISO |
protein:increased expression:respiratory tract epithelium, mast cell (human) |
RGD |
PMID:18783610 |
RGD:5128552 |
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
|
RGD |
PMID:15469929 |
RGD:5131854 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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|
G |
Crhr1 |
corticotropin releasing hormone receptor 1 |
treatment |
ISO |
DNA:SNP:intron: (rs242941) (human) |
RGD |
PMID:19210659 |
RGD:11097322 |
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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G |
Crp |
C-reactive protein |
severity |
ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:29329563 PMID:21506665 PMID:21468168 |
RGD:5131278, RGD:5131279 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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G |
Csf2 |
colony stimulating factor 2 |
|
ISO |
protein:increased expression:sputum |
RGD |
PMID:19213775 |
RGD:5131476 |
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
susceptibility |
ISO |
DNA:SNP: :-318C>T (rs5742909) (human) |
RGD |
PMID:21129004 PMID:20732370 |
RGD:4891499, RGD:4891504 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
|
ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23099361 PMID:20858153 |
RGD:4890939 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
protein:increased expression:sputum |
RGD |
PMID:17925429 |
RGD:5135436 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl11 |
C-X-C motif chemokine ligand 11 |
|
ISO |
protein:increased expression:sputum |
RGD |
PMID:17925429 |
RGD:5135436 |
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23099361 |
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NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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G |
Cxcl3 |
C-X-C motif chemokine ligand 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23099361 |
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NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
severity |
ISO |
|
RGD |
PMID:12857718 |
RGD:5135248 |
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
protein:increased expression:sputum |
RGD |
PMID:19229703 PMID:17925429 |
RGD:4892070, RGD:5135436 |
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
severity |
ISO |
|
RGD |
PMID:12857718 |
RGD:5135248 |
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
disease_progression |
ISO |
protein:increased expression:respiratory system fluid/secretion, neutrophil |
RGD |
PMID:19218194 PMID:19017998 |
RGD:5135435, RGD:4145632 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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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:4304108, RGD:4293707 |
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to |
ClinVar |
|
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NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to |
ClinVar |
|
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NCBI chr 8:63,449,148...63,476,534
Ensembl chr 8:54,553,165...54,580,758
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
no_association susceptibility severity |
ISO |
DNA:polymorphisms: :2455A>G, 3801T>C (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms: :p.I462V, 3801T>C (human) DNA:polymorphism (human) |
CTD RGD |
PMID:19022366 PMID:18389617 PMID:20080081 PMID:19507017 |
RGD:4892071, RGD:4293707, RGD:4892045 |
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp1a2 |
cytochrome P450, family 1, subfamily a, polypeptide 2 |
susceptibility |
ISO |
DNA:polymorphisms: :-3860G>A (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20797314 PMID:20080081 |
RGD:4293707 |
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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G |
Cyp2c79 |
cytochrome P450, family 2, subfamily c, polypeptide 79 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to |
ClinVar |
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|
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G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
DNA:polymorphisms: :-1293G>C, 7632T>A, 9893C>G (human) |
RGD |
PMID:17442289 |
RGD:4892219 |
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023
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G |
Cyp2j4 |
cytochrome P450, family 2, subfamily j, polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to |
ClinVar |
|
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NCBI chr 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
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G |
Cyp2r1 |
cytochrome P450, family 2, subfamily r, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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G |
Cyp46a1 |
cytochrome P450, family 46, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to |
ClinVar |
|
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NCBI chr 6:127,247,543...127,274,765
Ensembl chr 6:127,243,315...127,274,760
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G |
Cyp4a1 |
cytochrome P450, family 4, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to |
ClinVar |
|
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NCBI chr 5:129,123,323...129,137,464
Ensembl chr 5:129,123,336...129,137,464
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G |
Cyp4b1 |
cytochrome P450, family 4, subfamily b, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to |
ClinVar |
|
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NCBI chr 5:129,139,019...129,176,860
Ensembl chr 5:129,139,038...129,156,348
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G |
Ddit3 |
DNA-damage inducible transcript 3 |
treatment |
IEP |
|
RGD |
PMID:24694971 |
RGD:13782182 |
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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G |
Defb1 |
defensin beta 1 |
susceptibility no_association |
ISO |
DNA:polymorphism: :668C>G (human) DNA:SNPs: :multiple (human) DNA:polymorphism (human) |
RGD |
PMID:15569478 PMID:16700921 PMID:11829455 |
RGD:4892257, RGD:4892251, RGD:1331523 |
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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G |
Dsp |
desmoplakin |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chronic obstructive pulmonary disease |
CTD ClinVar |
PMID:28166215 |
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Edn1 |
endothelin 1 |
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ISO |
DNA:insertion, transversion:5' utr, exon:c.138_139insA, p.K198N (human) protein:increased expression:sputum (human) |
RGD |
PMID:20707291 PMID:10445603 |
RGD:4144868, RGD:4145062 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Eefsec |
eukaryotic elongation factor, selenocysteine-tRNA-specific |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28166215 |
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NCBI chr 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779
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G |
Egfr |
epidermal growth factor receptor |
|
ISO IEP |
protein:increased expression:bronchial epithelium (human) |
RGD |
PMID:16393673 PMID:22732689 |
RGD:5131627, RGD:7204496 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Egr1 |
early growth response 1 |
|
ISO |
associated with Tobacco Use Disorder associated with Tobacco Use Disorder;mRNA:increased expression:lung (human) |
RGD |
PMID:20417178 PMID:15469929 |
RGD:5131878, RGD:5131854 |
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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G |
Eln |
elastin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25106431 PMID:16081882 |
RGD:1580326 |
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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G |
Ephx1 |
epoxide hydrolase 1 |
no_association susceptibility |
ISO |
DNA:SNP:exon:p.H139R (rs2234922) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:exons:p.Y113H (rs1051740), p.H139R (rs2234922) (human) DNA:polymorphism DNA:SNPs: :multiple (human) |
CTD RGD |
PMID:9288046 PMID:20932192 PMID:18811882 PMID:9288046 PMID:18614560 PMID:17564249 More...
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RGD:4889120, RGD:4889121, RGD:1601065, RGD:4889122, RGD:4889123 |
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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G |
Erbb3 |
erb-b2 receptor tyrosine kinase 3 |
|
IEP |
protein:increased expression:lung |
RGD |
PMID:17908459 |
RGD:2289953 |
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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G |
F2 |
coagulation factor II, thrombin |
severity |
ISO |
|
RGD |
PMID:21660493 |
RGD:5147752 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
F2rl1 |
F2R like trypsin receptor 1 |
|
ISO |
|
RGD |
PMID:21245013 |
RGD:4892586 |
NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226
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G |
Faim2 |
Fas apoptotic inhibitory molecule 2 |
|
IEP |
|
RGD |
PMID:29208459 |
RGD:13792601 |
NCBI chr 7:130,632,368...130,659,353
Ensembl chr 7:130,633,348...130,659,168
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G |
Fam13a |
family with sequence similarity 13, member A |
susceptibility |
ISO |
DNA:SNP: :rs7671167 (human) ClinVar Annotator: match by term: Chronic obstructive pulmonary disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:20173748 PMID:28166215 PMID:25928290 |
RGD:11552597 |
NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
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G |
Fas |
Fas cell surface death receptor |
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IEP |
|
RGD |
PMID:29208459 |
RGD:13792601 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
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IEP |
|
RGD |
PMID:29208459 |
RGD:13792601 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:15681497 |
RGD:5684420 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
Foxo3 |
forkhead box O3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23099361 |
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NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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G |
Gc |
GC, vitamin D binding protein |
|
ISO |
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease |
ClinVar RGD |
PMID:28492532 PMID:15118671 PMID:9517617 |
RGD:1331525, RGD:5509932 |
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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G |
Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
susceptibility |
ISO |
DNA:SNP: :rs8099939 |
RGD |
PMID:28900078 |
RGD:401900295 |
NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
susceptibility |
ISO |
DNA:SNP: :rs2268132 |
RGD |
PMID:28900078 |
RGD:401900295 |
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility resistance |
ISO |
DNA:deletion: : mRNA:decreased expression:lung associated with Carcinoma, Non-Small-Cell Lung; |
RGD |
PMID:19664521 PMID:16919984 PMID:15038404 |
RGD:4140939, RGD:4142517, RGD:4142538 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility no_association |
ISO |
mRNA:decreased expression:lung ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to DNA:polymorphism:exon:p.I105V (human) DNA:SNPs: :p.I105V, p.A114V (human) |
ClinVar RGD |
PMID:25741868 PMID:16919984 PMID:20467983 PMID:17532303 PMID:17439673 |
RGD:4142517, RGD:4140938, RGD:4142511, RGD:4142514 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
associated with GSTM1 null mutation; DNA:deletion: : |
RGD |
PMID:19664521 PMID:20402821 |
RGD:4140939, RGD:4140928 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Gzma |
granzyme A |
|
ISO |
|
RGD |
PMID:20047264 |
RGD:5135520 |
NCBI chr 2:44,740,569...44,752,502
Ensembl chr 2:44,740,569...44,752,493
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G |
Gzmb |
granzyme B |
|
ISO |
|
RGD |
PMID:20540777 |
RGD:5135516 |
NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
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G |
Hdac2 |
histone deacetylase 2 |
treatment |
IEP ISO |
protein:decreased expression:lung: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15337792 PMID:18421014 PMID:22732689 PMID:24940433 |
RGD:7204496, RGD:9590287 |
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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G |
Hdac8 |
histone deacetylase 8 |
severity |
ISO |
mRNA:decreased expression:lung (human) |
RGD |
PMID:15888697 |
RGD:13208820 |
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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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) |
ClinVar RGD |
PMID:25928290 PMID:19996190 |
RGD:11552597, RGD:11552598 |
NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26752192 |
|
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hmox1 |
heme oxygenase 1 |
susceptibility treatment severity |
ISO IEP |
DNA:polymorphism:promoter CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HMOX1-related condition | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset |
CTD OMIM ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:17203192 PMID:20705587 PMID:17254481 |
RGD:4145372, RGD:10755705, RGD:4145371 |
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
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G |
Hp |
haptoglobin |
|
ISO |
|
RGD |
PMID:21471098 |
RGD:5144151 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Hspa1a |
heat shock protein family A (Hsp70) member 1A |
|
ISO |
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease |
ClinVar |
|
|
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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G |
Hspa1b |
heat shock protein family A (Hsp70) member 1B |
|
ISO |
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease |
ClinVar |
|
|
NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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G |
Hspa1l |
heat shock protein family A (Hsp70) member 1 like |
|
ISO |
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease |
ClinVar |
|
|
NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571
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G |
Hspa4 |
heat shock protein family A (Hsp70) member 4 |
no_association |
ISO |
protein:increased expression:serum (human) protein:increased expression:bronchial mucosa (human) |
RGD |
PMID:19350847 PMID:22140545 |
RGD:5688779, RGD:5688781 |
NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
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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 chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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Hykk |
hydroxylysine kinase |
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ISO |
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease |
ClinVar |
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NCBI chr 8:55,315,919...55,339,720
Ensembl chr 8:55,315,969...55,337,339
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G |
Icam1 |
intercellular adhesion molecule 1 |
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ISO |
mRNA:increased expression:airway epithelial cell (human) CTD Direct Evidence: marker/mechanism protein:decreased expression:airway epithelium (mouse) |
CTD RGD |
PMID:29329563 PMID:20395558 PMID:18794286 |
RGD:4145446, RGD:4145522 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il12b |
interleukin 12B |
|
ISO |
DNA:polymorphism: : |
RGD |
PMID:19279357 |
RGD:4145423 |
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il13 |
interleukin 13 |
susceptibility no_association |
ISO |
DNA:polymorphism: :c. 1103C>T (human) DNA:polymorphisms:intron1,exon4s: rs2066960, rs20541, rs1295685 (human) DNA:SNP:promoter:c.-1055 C>T (human) DNA:polymorphism:promoter:c.-1055C>T (human) |
RGD |
PMID:15308043 PMID:19796199 PMID:15820084 PMID:19995275 |
RGD:4145668, RGD:4145601, RGD:4145714, RGD:4145596 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
|
ISO |
DNA:SNP: :rs2250747 (human) |
RGD |
PMID:19796199 |
RGD:4145601 |
NCBI chr X:115,348,822...115,408,682
Ensembl chr X:115,348,860...115,408,681 Ensembl chr11:115,348,860...115,408,681
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Il16 |
interleukin 16 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:20079227 |
RGD:5024924 |
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
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Il17a |
interleukin 17A |
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ISO IEP |
protein:increased expression:respiratory mucosa protein:increased expression:lung, bronchioalveolar lavage fluid (rat) |
RGD |
PMID:19604272 PMID:16200865 |
RGD:4889104, RGD:9068943 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il18 |
interleukin 18 |
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ISO |
protein:increased expression:serum protein:increased expression:sputum, macrophage |
RGD |
PMID:20026745 PMID:19208460 |
RGD:4889551, RGD:4889575 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il18bp |
interleukin 18 binding protein |
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ISO |
protein:increased expression:serum |
RGD |
PMID:20026745 |
RGD:4889551 |
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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G |
Il1b |
interleukin 1 beta |
no_association susceptibility severity |
ISO |
DNA:polymorphism: :-31T>C (human) DNA:polymorphisms: :-31T>C, 3954T>C (human) DNA:polymorphisms: :-31T>C, 3953T>C (human) DNA:polymorphisms: :-31T>C, -511C>T (human) |
RGD |
PMID:18364273 PMID:15766560 PMID:17380888 PMID:18579366 |
RGD:4142868, RGD:4143169, RGD:4142873, RGD:4142866 |
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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Il1rl1 |
interleukin 1 receptor-like 1 |
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ISO |
mRNA:increased expression:lung: |
RGD |
PMID:19927353 PMID:30952808 |
RGD:5144227, RGD:40400740 |
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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G |
Il1rn |
interleukin 1 receptor antagonist |
no_association susceptibility |
ISO |
DNA:polymorphism (human) protein:decreased expression:plasma DNA:polymorphism:intron (human) |
RGD |
PMID:18364273 PMID:19291375 PMID:18579366 |
RGD:4142868, RGD:4142861, RGD:4142866 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il27 |
interleukin 27 |
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ISO |
DNA:polymorphisms: :-964A>G, 2905T>G (human) |
RGD |
PMID:18554158 |
RGD:5128484 |
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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G |
Il33 |
interleukin 33 |
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ISO |
mRNA,protein:increased expression:lung: |
RGD |
PMID:30952808 |
RGD:40400740 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Il5 |
interleukin 5 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:20858153 |
RGD:4890939 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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Il5ra |
interleukin 5 receptor subunit alpha |
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ISO |
protein:increased expression:serum |
RGD |
PMID:15286446 |
RGD:5128619 |
NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544
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G |
Il6 |
interleukin 6 |
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ISO |
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28864214 PMID:29329563 PMID:31349846 PMID:20819268 |
RGD:4143243 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Il9 |
interleukin 9 |
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ISO |
protein:increased expression:sputum, macrophage, cytoplasm |
RGD |
PMID:15303135 |
RGD:5128691 |
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
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G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
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ISO |
mRNA, protein:increased expression:lung (mouse) |
RGD |
PMID:34331613 |
RGD:155663371 |
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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G |
Kdr |
kinase insert domain receptor |
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ISO |
protein:increased expression:lung |
RGD |
PMID:15681497 |
RGD:5684420 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Klf5 |
KLF transcription factor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30639269 |
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NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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G |
Lcn1 |
lipocalin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28381600 |
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NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577
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G |
Lep |
leptin |
severity |
ISO |
DNA:polymorphism:promoter: -2548 G>A (human) protein:decreased expression:serum protein:increased expression:plasma |
RGD |
PMID:20854423 PMID:20021311 PMID:21367591 |
RGD:5128777, RGD:5128778, RGD:5128772 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Lepr |
leptin receptor |
disease_progression |
ISO |
protein:decreased expression:lung DNA:SNPs: : |
RGD |
PMID:19196818 PMID:19196818 |
RGD:5128813, RGD:5128813 |
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Lrp1b |
LDL receptor related protein 1B |
susceptibility |
ISO |
associated with lung adenocarcinoma;DNA:mutations:multiple: (human) |
RGD |
PMID:28522810 |
RGD:150429784 |
NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
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G |
Map2k4 |
mitogen activated protein kinase kinase 4 |
severity |
ISO |
|
RGD |
PMID:20699612 |
RGD:5490968 |
NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
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G |
Map3k7 |
mitogen activated protein kinase kinase kinase 7 |
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ISO |
mRNA, protein:increased expression:lung (mouse) |
RGD |
PMID:34331613 |
RGD:155663371 |
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
severity |
ISO |
mRNA, protein:increased expression:lung (mouse) |
RGD |
PMID:20699612 PMID:34331613 |
RGD:5490968, RGD:155663371 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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G |
Mbl2 |
mannose binding lectin 2 |
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ISO |
DNA:polymorphisms:5' utr, exon:multiple (human) protein:decreased secretion:lung (human) |
RGD |
PMID:20688922 PMID:19411612 |
RGD:4889421, RGD:4889448 |
NCBI chr 1:228,016,439...228,024,736
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Mcam |
melanoma cell adhesion molecule |
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ISO |
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RGD |
PMID:23649916 |
RGD:7364780 |
NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
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G |
Mgst1 |
microsomal glutathione S-transferase 1 |
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ISO |
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to |
ClinVar |
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NCBI chr 4:171,029,666...171,044,893
Ensembl chr 4:171,029,630...171,044,892
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G |
Mgst3 |
microsomal glutathione S-transferase 3 |
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ISO |
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to |
ClinVar |
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NCBI chr13:79,526,541...79,547,479
Ensembl chr13:79,526,541...79,547,411
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G |
Mif |
macrophage migration inhibitory factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26752192 |
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NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504 Ensembl chr 4:12,790,902...12,799,504
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Mir126a |
microRNA 126a |
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ISO |
RNA:decreased expression:lung |
RGD |
PMID:36522710 |
RGD:401850545 |
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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G |
Mir210 |
microRNA 210 |
disease_progression |
ISO |
associated with lung cancer;miRNA:decreased expression: peripheral blood (human) associated with cerebral infarction;miRNA:decreased expression: peripheral blood (human) |
RGD |
PMID:28745794 PMID:27906445 |
RGD:155598593, RGD:155598676 |
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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G |
Mir218-2 |
microRNA 218-2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28864214 |
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NCBI chr10:20,068,451...20,068,560
Ensembl chr10:20,068,451...20,068,560
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G |
Mmp1 |
matrix metallopeptidase 1 |
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IEP ISO |
mRNA:increased expression:bone (rat) 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 RGD |
PMID:9850057 PMID:11741975 PMID:11875051 PMID:18030675 PMID:25741868 PMID:28492532 PMID:23173262 More...
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RGD:7207216 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp14 |
matrix metallopeptidase 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19661247 |
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NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment susceptibility severity |
ISO IEP |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism DNA:polymorphism: :-1562C-->T (human) DNA:polymorphism:promoter:-1562C-->T (human) |
CTD RGD |
PMID:19299917 PMID:19411568 PMID:25842729 PMID:20160424 PMID:18619044 |
RGD:5129553, RGD:13207319, RGD:5129494, RGD:5130149 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mpo |
myeloperoxidase |
severity |
IEP ISO |
protein:increased activity:plasma protein:increased expression:serum |
RGD |
PMID:19491038 PMID:10917466 |
RGD:5130997, RGD:5130993 |
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Mtcl1 |
microtubule crosslinking factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28166215 |
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NCBI chr 9:106,305,282...106,441,782
Ensembl chr 9:106,321,098...106,442,203
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G |
Muc1 |
mucin 1, cell surface associated |
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ISO |
protein:increased expression:sputum (human) |
RGD |
PMID:21474912 |
RGD:5131160 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
treatment |
ISO IDA |
mRNA, protein:increased expression:lung protein:increased expression:bronchi |
RGD |
PMID:17637221 PMID:22282955 PMID:19723147 |
RGD:4145655, RGD:7349406, RGD:5131190 |
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
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ISO |
protein:increased expression:sputum |
RGD |
PMID:18776153 |
RGD:5131169 |
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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G |
Nat2 |
N-acetyltransferase 2 |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:17442289 PMID:12884528 |
RGD:4892219, RGD:5131863 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
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ISO IEP |
protein:decreased expression:lung protein:increased expression:lung |
RGD |
PMID:18556627 PMID:22737924 |
RGD:5134980, RGD:10412732 |
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
severity |
ISO |
DNA:SNP:intron: (rs1077861) (human) |
RGD |
PMID:21943069 |
RGD:5508720 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Nos1 |
nitric oxide synthase 1 |
severity |
ISO |
protein:increased expression:skeletal muscle mRNA, protein:increased expression:lung |
RGD |
PMID:12816735 PMID:19797159 |
RGD:5132628, RGD:5132607 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos2 |
nitric oxide synthase 2 |
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ISO |
protein:increased expression:lung CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21843929 PMID:12797490 |
RGD:4891444 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21843929 |
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NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
treatment susceptibility |
ISO IEP |
protein, mRNA:decreased expression:lung DNA:polymorphisms: :465C>T, 609C>T (human) |
RGD |
PMID:18556627 PMID:28790194 PMID:19705749 |
RGD:5134980, RGD:13439712, RGD:5133267 |
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
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Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
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ISO |
protein:decreased expression:lung, lymphocyte |
RGD |
PMID:20450542 PMID:9926163 |
RGD:4892318, RGD:4892564 |
NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375
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G |
Ntf3 |
neurotrophin 3 |
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ISO |
mRNA:decreased expression:bronchus |
RGD |
PMID:15843147 |
RGD:4891120 |
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
|
ISO |
protein:increased expression:bronchiolar epithelial cell |
RGD |
PMID:21429417 |
RGD:5684530 |
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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G |
Pde3b |
phosphodiesterase 3B |
|
ISO |
ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, susceptibility to |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:168,606,762...168,770,078
Ensembl chr 1:168,607,022...168,769,334
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G |
Plau |
plasminogen activator, urokinase |
severity |
ISO IMP |
proteine:increased expression:sputum, neutrophil |
RGD |
PMID:20624254 PMID:17651644 |
RGD:6483803, RGD:6484146 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Plaur |
plasminogen activator, urokinase receptor |
|
IEP |
protein:increased expression:bronchus |
RGD |
PMID:17651644 |
RGD:6484146 |
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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G |
Pon1 |
paraoxonase 1 |
|
ISO |
protein:decreased activity:serum (human) |
RGD |
PMID:16380766 |
RGD:8547571 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
ISO |
|
RGD |
PMID:20732852 |
RGD:6484530 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
DNA:polymorphism: :g.-765G>C (human) protein:increased expression:sputum |
RGD |
PMID:21655952 PMID:15949313 |
RGD:5135277, RGD:5143926 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Rapgef3 |
Rap guanine nucleotide exchange factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363678 |
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NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
mRNA, protein:increased expression:lung (mouse) |
RGD |
PMID:34331613 |
RGD:155663371 |
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Rnasel |
ribonuclease L |
|
ISO |
|
RGD |
PMID:23913960 |
RGD:40902622 |
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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G |
RT1-Hb-ps1 |
RT1 class II, locus Hb, pseudogene 1 |
|
ISO |
|
RGD |
PMID:21423603 |
RGD:5143980 |
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
ameliorates |
ISO |
DNA:SNP:cds:rs4809324 (human) |
RGD |
PMID:28360516 |
RGD:152985694 |
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
|
ISO |
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease |
ClinVar |
|
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NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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G |
Selp |
selectin P |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:20646456 |
RGD:6478682 |
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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G |
Serpina1 |
serpin family A member 1 |
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ISO |
ClinVar Annotator: match by term: Chronic obstructive pulmonary disease | ClinVar Annotator: match by term: Pulmonary disease, chronic obstructive, severe early-onset CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:301355 PMID:1087161 PMID:1608473 PMID:1889260 PMID:2339709 PMID:2567291 PMID:2575668 PMID:2696185 PMID:2700304 PMID:2904702 PMID:2989709 PMID:3257660 PMID:3264419 PMID:3484754 PMID:3500183 PMID:3537008 PMID:3875547 PMID:6093867 PMID:6306478 PMID:6602622 PMID:7045697 PMID:7227484 PMID:7977369 PMID:8970361 PMID:9195389 PMID:9569237 PMID:10194472 PMID:11778003 PMID:12034572 PMID:14522813 PMID:15454649 PMID:15711957 PMID:15978931 PMID:15994391 PMID:16278826 PMID:16608528 PMID:17964515 PMID:18187064 PMID:18294358 PMID:18340647 PMID:18414213 PMID:18515255 PMID:18565211 PMID:18566672 PMID:19083091 PMID:19398551 PMID:19444872 PMID:19738092 PMID:19956452 PMID:20301692 PMID:20981092 PMID:21067581 PMID:21228398 PMID:21637600 PMID:21960536 PMID:22426792 PMID:22735536 PMID:22912729 PMID:22933512 PMID:22971141 PMID:22975760 PMID:23484243 PMID:23632999 PMID:23837941 PMID:23858502 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24328305 PMID:24428606 PMID:24518491 PMID:24592811 PMID:25181470 PMID:25454901 PMID:25579632 PMID:25637381 PMID:25738741 PMID:25741868 PMID:25966443 PMID:26141072 PMID:26243289 PMID:26304913 PMID:26310624 PMID:26647313 PMID:26672964 PMID:26771213 PMID:26831755 PMID:26987331 PMID:27153395 PMID:27246852 PMID:27465791 PMID:27535533 PMID:27959697 PMID:28146470 PMID:28492532 PMID:29083408 PMID:29153744 PMID:29232161 PMID:29431110 PMID:29618937 PMID:29644095 PMID:29882371 PMID:30068317 PMID:30068662 PMID:30254761 PMID:30585791 PMID:30739910 PMID:31028937 PMID:31216405 PMID:31447099 PMID:31564432 PMID:31980526 PMID:32087139 PMID:32699024 PMID:33144682 PMID:33726816 PMID:34408828 PMID:34408829 PMID:20298391 More...
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RGD:4140387 |
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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|
G |
Serpina3n |
serpin family A member 3N |
susceptibility |
ISO |
protein:increased expression:plasma ClinVar Annotator: match by term: ANTICHYMOTRYPSIN BONN 1 DNA:missense mutations:Cds:p.L55P, P229A DNA:polymorphism:exon:p.A-15T (human) |
ClinVar RGD |
PMID:1351206 PMID:8102759 PMID:8244391 PMID:25741868 PMID:17261175 PMID:8244391 PMID:10849024 More...
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RGD:5147433, RGD:5147449, RGD:5147441 |
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
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|
G |
Serpine1 |
serpin family E member 1 |
|
ISO IEP |
protein:increased expression:bronchus |
RGD |
PMID:11929177 PMID:17651644 |
RGD:4144041, RGD:6484146 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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|
G |
Sftpa1 |
surfactant protein A1 |
susceptibility |
ISO |
protein:increased expression:lung DNA:SNP:cds:p.L50V (human) DNA:polymorphism:cds:c.186G>A (human) |
RGD |
| |