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: | allergic disease |
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Accession: | DOID:1205
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browse the term
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Definition: | An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. (DO) |
Synonyms: | exact_synonym: | Allergic Reaction; Allergies; Allergy; Hypersensitivities; allergic hypersensitivity disease; allergic reactions; hypersensitivity; hypersensitivity reaction type I disease |
| primary_id: | MESH:D006967 |
| xref: | ICD10CM:T78.40; NCI:C3114 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Abcf1 |
ATP binding cassette subfamily F member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr20:3,309,914...3,322,828
Ensembl chr20:3,309,899...3,322,825
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Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:10200023 |
RGD:8142344 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Agt |
angiotensinogen |
susceptibility |
ISO |
DNA:polymorphism: :p.M235T (human) |
RGD |
PMID:10200023 |
RGD:8142344 |
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Akr1b1 |
aldo-keto reductase family 1 member B |
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IDA |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:16979157 |
RGD:1626088 |
NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
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Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8431628 |
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NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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Bcl2a1 |
BCL2-related protein A1 |
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ISO |
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RGD |
PMID:11733571 |
RGD:734640 |
NCBI chr 8:96,551,424...96,559,527
Ensembl chr 8:96,551,245...96,559,483
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Casp1 |
caspase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
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Ccl11 |
C-C motif chemokine ligand 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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Ccl12 |
chemokine (C-C motif) ligand 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr10:69,476,866...69,478,416
Ensembl chr10:69,476,775...69,478,462
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Ccl17 |
C-C motif chemokine ligand 17 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
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Ccl19 |
C-C motif chemokine ligand 19 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
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Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15585374 PMID:21625544 |
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NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Ccl20 |
C-C motif chemokine ligand 20 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
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Ccl24 |
C-C motif chemokine ligand 24 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr12:24,131,529...24,152,626
Ensembl chr12:24,148,567...24,152,625
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Ccl3 |
C-C motif chemokine ligand 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15585374 PMID:23624239 |
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NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
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Ccl4 |
C-C motif chemokine ligand 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15585374 PMID:21625544 |
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NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
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Ccl7 |
C-C motif chemokine ligand 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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Ccr1 |
C-C motif chemokine receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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Ccr2 |
C-C motif chemokine receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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Ccr6 |
C-C motif chemokine receptor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474
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Ccr9 |
C-C motif chemokine receptor 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 8:132,827,325...132,842,130
Ensembl chr 8:132,828,091...132,842,130
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Cd14 |
CD14 molecule |
resistance |
ISO |
DNA:polymorphism:promoter:c. -159C>T (human) |
RGD |
PMID:19222419 |
RGD:4144798 |
NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
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Cd274 |
CD274 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20488241 PMID:23624239 |
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NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
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Cd40lg |
CD40 ligand |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Clec4a3 |
C-type lectin domain family 4, member A3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23624239 |
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NCBI chr 4:155,913,366...155,923,079
Ensembl chr 4:155,913,366...155,923,079
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Commd1 |
copper metabolism domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22216203 |
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NCBI chr14:107,664,321...107,759,974
Ensembl chr14:107,664,255...107,760,191
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Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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Cxcl1 |
C-X-C motif chemokine ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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Cxcl3 |
C-X-C motif chemokine ligand 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
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Cxcl9 |
C-X-C motif chemokine ligand 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
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Cxcr2 |
C-X-C motif chemokine receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
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Cxcr3 |
C-X-C motif chemokine receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr X:71,614,346...71,616,997
Ensembl chr X:71,614,346...71,616,997
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Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19022366 |
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NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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Cysltr1 |
cysteinyl leukotriene receptor 1 |
severity |
ISO |
DNA:SNP: :927T>C (human) |
RGD |
PMID:16776674 |
RGD:4782072 |
NCBI chr X:77,671,028...77,700,491
Ensembl chr X:77,674,150...77,700,269
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Dsg1 |
desmoglein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23974871 |
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NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
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Fcgr3a |
Fc fragment of IgG receptor IIIa |
treatment |
ISO |
associated with Purpura, Thrombocytopenic, Idiopathic |
RGD |
PMID:22025730 |
RGD:11352264 |
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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Foxp3 |
forkhead box P3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27965764 |
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NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:16580705 |
RGD:5490996 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.I105V (rs1695) (human) |
RGD |
PMID:20526719 |
RGD:5133266 |
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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Hp |
haptoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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Icam1 |
intercellular adhesion molecule 1 |
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ISO |
associated with Giardiasis;protein:increased expression:serum |
RGD |
PMID:7524984, PMID:15587302 |
RGD:8158114, RGD:8547689 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:10886234 PMID:21625544 |
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NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Il13 |
interleukin 13 |
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ISO |
DNA:SNP:promoter, 3' utr:-1055C>T, 4738G>A (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544, PMID:11588017 |
RGD:4765128 |
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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Il16 |
interleukin 16 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23624239 |
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NCBI chr 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
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Il17a |
interleukin 17A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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Il18 |
interleukin 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il1r1 |
interleukin 1 receptor type 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670
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Il1r2 |
interleukin 1 receptor type 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 9:46,840,646...46,881,241
Ensembl chr 9:46,840,992...46,881,264
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Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:21509781 |
RGD:5147912 |
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il2rb |
interleukin 2 receptor subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
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Il4 |
interleukin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16095146 PMID:21625544 |
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NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il5ra |
interleukin 5 receptor subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 4:138,796,165...138,834,164
Ensembl chr 4:138,795,327...138,830,117
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Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Il6st |
interleukin 6 cytokine family signal transducer |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
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Itgb2 |
integrin subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
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Kng2 |
kininogen 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11160071 |
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NCBI chr11:81,509,185...81,516,759
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Lta |
lymphotoxin alpha |
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ISO |
DNA:polymorphism, haplotype associated with Nasal Polyps |
RGD |
PMID:11591192, PMID:22545387 |
RGD:8548785, RGD:8548802 |
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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Map2k6 |
mitogen-activated protein kinase kinase 6 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21544193 |
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NCBI chr10:98,707,160...98,823,054
Ensembl chr10:98,706,960...98,823,287
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Mif |
macrophage migration inhibitory factor |
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ISO |
DNA:polymorphisms:promoter: |
RGD |
PMID:14962818 |
RGD:4891046 |
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16766537 |
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NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Mylk |
myosin light chain kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15621374 |
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NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
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Pf4 |
platelet factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr14:18,848,549...18,849,258
Ensembl chr14:18,848,549...18,849,258
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Ppbp |
pro-platelet basic protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23624239 |
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NCBI chr14:18,852,433...18,853,237
Ensembl chr14:18,851,954...18,853,315
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RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human) |
CTD |
PMID:8725357, PMID:15853900, PMID:10202362, PMID:16112029 |
RGD:5147651, RGD:5147866, RGD:5147826 |
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human) |
CTD |
PMID:8725357, PMID:20684489, PMID:10202362, PMID:16112029, PMID:10689122, PMID:15853900 |
RGD:5147606, RGD:5147866, RGD:5147826, RGD:5147814, RGD:5147651 |
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Da |
RT1 class II, locus Da |
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ISO |
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RGD |
PMID:9104792 |
RGD:5490205 |
NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
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RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms (human) |
CTD |
PMID:8725357, PMID:15853900, PMID:16112029, PMID:10689122 |
RGD:5147651, RGD:5147826, RGD:5147814 |
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Selp |
selectin P |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12929084 |
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NCBI chr13:82,428,914...82,464,629
Ensembl chr13:82,429,063...82,464,628
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Spp1 |
secreted phosphoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
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Tac1 |
tachykinin, precursor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11160071 |
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NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
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Tap1 |
transporter 1, ATP binding cassette subfamily B member |
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ISO |
DNA:polymorphism, haplotype: :p.V333I (human) |
RGD |
PMID:11591192 |
RGD:8548785 |
NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138248 PMID:21625544 |
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NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16095146 PMID:21625544 |
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NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tnfrsf1a |
TNF receptor superfamily member 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625544 |
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NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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G |
F12 |
coagulation factor XII |
disease_progression |
ISO |
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RGD |
PMID:9129025 |
RGD:11565081 |
NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
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G |
F2 |
coagulation factor II |
disease_progression |
ISO |
protein:increased expression:plasma: |
RGD |
PMID:9129025 |
RGD:11565081 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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G |
F7 |
coagulation factor VII |
disease_progression |
ISO |
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RGD |
PMID:9129025 |
RGD:11565081 |
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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G |
Kng2 |
kininogen 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9734886 |
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NCBI chr11:81,509,185...81,516,759
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G |
Serping1 |
serpin family G member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:9734886 PMID:23406939 |
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NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
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G |
Ccl26 |
C-C motif chemokine ligand 26 |
treatment |
ISO |
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RGD |
PMID:25530546 |
RGD:11081163 |
NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
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G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
treatment |
ISO |
|
RGD |
PMID:23933317 |
RGD:40903070 |
NCBI chr X:77,671,028...77,700,491
Ensembl chr X:77,674,150...77,700,269
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G |
Epx |
eosinophil peroxidase |
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ISO |
protein:increased expression:urine: |
RGD |
PMID:11846868 |
RGD:13506893 |
NCBI chr10:75,160,690...75,171,774
Ensembl chr10:75,160,690...75,171,774
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G |
Il25 |
interleukin 25 |
treatment |
ISO |
|
RGD |
PMID:17889290 |
RGD:40902975 |
NCBI chr15:33,594,852...33,599,692
Ensembl chr15:33,596,301...33,599,685
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G |
RT1-B |
RT1 class II, locus B |
susceptibility |
ISO |
DNA:polymorphism: |
RGD |
PMID:28380482 |
RGD:13506910 |
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
|
RGD |
PMID:22397267 |
RGD:13506905 |
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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G |
RT1-Ha |
RT1 class II, locus Ha |
susceptibility |
ISO |
DNA:polymorphism: |
RGD |
PMID:28380482 |
RGD:13506910 |
NCBI chr20:3,875,478...3,885,140
Ensembl chr20:3,875,706...3,881,461
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
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ISO |
associated with Cystic Fibrosis |
RGD |
PMID:17898016 |
RGD:4145612 |
NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
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ISO |
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RGD |
PMID:15951834 |
RGD:5688155 |
NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
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ISO |
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RGD |
PMID:10946288 |
RGD:8661731 |
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G |
Cftr |
CF transmembrane conductance regulator |
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ISO |
DNA:mutations: : |
RGD |
PMID:11243954 |
RGD:4140482 |
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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G |
Icam1 |
intercellular adhesion molecule 1 |
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ISO |
|
RGD |
PMID:7743671 |
RGD:8547590 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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G |
Il1a |
interleukin 1 alpha |
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ISO |
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RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) DNA:SNP:intron:1011G>A(human) |
RGD |
PMID:11474427, PMID:16487239 |
RGD:4889577, RGD:8693711 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human) |
RGD |
PMID:23278646 |
RGD:36049760 |
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
associated with cystic fibrosis; DNA:polymorphisms: : |
RGD |
PMID:23278646 |
RGD:36049760 |
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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G |
Tlr9 |
toll-like receptor 9 |
susceptibility |
ISO |
DNA:SNP:promoter:g.-1237T>C rs5743836 (human) |
RGD |
PMID:18275280, PMID:18936185 |
RGD:5130863, RGD:5130858 |
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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G |
Tnf |
tumor necrosis factor |
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ISO |
|
RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
susceptibility |
ISO |
DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human) |
RGD |
PMID:20646338 |
RGD:5131174 |
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
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IEP |
mRNA:increased expression:conjunctiva |
RGD |
PMID:12682842 |
RGD:2307196 |
NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
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RGD |
PMID:19553621 |
RGD:8548840 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
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IEP |
mRNA:increased expression:conjunctiva |
RGD |
PMID:12682842 |
RGD:2307196 |
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
ISO |
protein:increased expression:conjunctiva |
RGD |
PMID:11090473 |
RGD:6483824 |
NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
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ISO |
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RGD |
PMID:18658092 |
RGD:6893389 |
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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G |
Icam1 |
intercellular adhesion molecule 1 |
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ISO |
|
RGD |
PMID:8766745 |
RGD:8547686 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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G |
Ifng |
interferon gamma |
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IDA ISO |
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RGD |
PMID:12234900, PMID:16123425 |
RGD:8142386, RGD:8142391 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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G |
Il10 |
interleukin 10 |
treatment |
ISO |
protein:increased expression:tear |
RGD |
PMID:22092652, PMID:16914468, PMID:15144463, PMID:19060266 |
RGD:7364837, RGD:11041889, RGD:7365076, RGD:7365027 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il13 |
interleukin 13 |
|
ISO |
associated with Allergic Rhinitis;DNA:SNPs, haplotype:promoter, exon:-1112C>T (rs1800925), p.R130Q (rs20541) (human) |
RGD |
PMID:9191598, PMID:22023794 |
RGD:8549533, RGD:8549595 |
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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G |
Il1b |
interleukin 1 beta |
treatment |
ISO |
|
RGD |
PMID:9326725 |
RGD:7401198 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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G |
Il1rn |
interleukin 1 receptor antagonist |
treatment |
ISO |
human protein in a mouse model |
RGD |
PMID:10549671 |
RGD:8549802 |
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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G |
Il4r |
interleukin 4 receptor |
susceptibility |
ISO |
associated with rhinitis; DNA:SNP: : rs2107356 (human) |
RGD |
PMID:20002627 |
RGD:4890389 |
NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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G |
Irf1 |
interferon regulatory factor 1 |
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IEP |
|
RGD |
PMID:14605445 |
RGD:5128787 |
NCBI chr10:39,109,530...39,116,532
Ensembl chr10:39,109,522...39,116,531
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G |
Lck |
LCK proto-oncogene, Src family tyrosine kinase |
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IDA |
protein:increased phosphorylation:T cell |
RGD |
PMID:14507881 |
RGD:1600225 |
NCBI chr 5:147,750,976...147,779,627
Ensembl chr 5:147,750,973...147,761,983
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G |
Muc1 |
mucin 1, cell surface associated |
severity |
ISO |
|
RGD |
PMID:17177679 |
RGD:7349351 |
NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
severity |
ISO |
|
RGD |
PMID:17177679 |
RGD:7349351 |
NCBI chr 1:214,663,929...214,693,197
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G |
Muc4 |
mucin 4, cell surface associated |
severity |
ISO |
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RGD |
PMID:17177679, PMID:11581187 |
RGD:7349351, RGD:7349400 |
NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939
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G |
Pla2g2a |
phospholipase A2 group IIA |
|
ISO |
protein:increased expression:body fluid or substance |
RGD |
PMID:21042565 |
RGD:6482725 |
NCBI chr 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328
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G |
Tgfb1 |
transforming growth factor, beta 1 |
treatment |
ISO |
|
RGD |
PMID:16914468 |
RGD:11041889 |
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
associated with Staphylococcal Infections; |
RGD |
PMID:19358332 |
RGD:8552826 |
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
mRNA,protein:increased expression:conjunctiva: |
RGD |
PMID:21820713, PMID:16023216, PMID:21391988 |
RGD:7777131, RGD:7794849, RGD:7794770 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
mRNA,protein:decreased expression:conjunctiva: |
RGD |
PMID:16023216 |
RGD:7794849 |
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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G |
Tnc |
tenascin C |
|
ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:18305139 |
RGD:4889589 |
NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
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G |
Abca6 |
ATP binding cassette subfamily A member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
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NCBI chr10:98,477,716...98,546,699
Ensembl chr10:98,478,067...98,544,447
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G |
Asrgl1 |
asparaginase and isoaspartyl peptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:225,309,737...225,329,743
Ensembl chr 1:225,309,246...225,329,770
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G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
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NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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G |
Bmp6 |
bone morphogenetic protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
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NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820
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G |
Calcrl |
calcitonin receptor like receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
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NCBI chr 3:71,747,938...71,845,487
Ensembl chr 3:71,747,956...71,845,232
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G |
Casp8 |
caspase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
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NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
ISO |
|
RGD |
PMID:15491423 |
RGD:1626251 |
NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
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G |
Ccl19 |
C-C motif chemokine ligand 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
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NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
ISO |
protein:increased expression:ear (mouse) |
RGD |
PMID:15491423 |
RGD:1626251 |
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:18844696 |
RGD:5688176 |
NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397, PMID:10899907 |
RGD:8661227 |
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
|
RGD |
PMID:22075493 |
RGD:6892916 |
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
IEP |
mRNA:increased expression:skin, lymph node (rat) |
RGD |
PMID:16977379 |
RGD:2325935 |
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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G |
Cd36 |
CD36 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
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NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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G |
Cd3d |
CD3d molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
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NCBI chr 8:49,282,502...49,287,095
Ensembl chr 8:49,282,460...49,287,110
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G |
Cidec |
cell death-inducing DFFA-like effector c |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 4:145,377,482...145,390,497
Ensembl chr 4:145,377,431...145,390,497
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G |
Cish |
cytokine inducible SH2-containing protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 8:116,054,547...116,059,494
Ensembl chr 8:116,054,465...116,060,723
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G |
Cntn3 |
contactin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr 4:134,783,671...135,159,309
Ensembl chr 4:134,784,668...135,069,970
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G |
Crem |
cAMP responsive element modulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr17:57,021,704...57,090,888
Ensembl chr17:57,031,766...57,090,888
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G |
Ctsc |
cathepsin C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23178550 |
|
NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11312644 PMID:19022366 |
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NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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G |
Emb |
embigin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 2:49,682,763...49,733,475
Ensembl chr 2:49,682,754...49,732,253
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G |
Ets2 |
ETS proto-oncogene 2, transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr11:36,075,709...36,092,495
Ensembl chr11:36,075,709...36,092,495
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G |
F13a1 |
coagulation factor XIII A1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
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G |
Fgl2 |
fibrinogen-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 4:10,323,598...10,329,241
Ensembl chr 4:10,323,607...10,329,241
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
mRNA:protein:skin: |
RGD |
PMID:7876550 |
RGD:7421586 |
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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G |
Fyb1 |
FYN binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 2:55,834,904...55,983,805
Ensembl chr 2:55,835,151...55,983,804
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G |
Grk2 |
G protein-coupled receptor kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
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NCBI chr 1:219,536,220...219,544,329
Ensembl chr 1:219,536,220...219,544,328
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G |
Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr13:111,946,626...111,996,536
Ensembl chr13:111,926,442...111,972,603
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G |
Ifi30 |
IFI30, lysosomal thiol reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr16:20,426,566...20,430,772
Ensembl chr16:20,426,566...20,430,752
|
|
G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11312644 PMID:12484431 PMID:15347381 |
|
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
|
|
G |
Igsf6 |
immunoglobulin superfamily, member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:190,997,029...191,007,503
Ensembl chr 1:190,997,029...191,007,503
|
|
G |
Il10 |
interleukin 10 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15347381, PMID:23760007 |
RGD:7364806 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
|
|
G |
Il18 |
interleukin 18 |
treatment |
ISO |
mRNA:increased expression:skin CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27585668, PMID:9781803, PMID:12874202 |
RGD:8655902, RGD:8655940 |
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
|
|
G |
Il18bp |
interleukin 18 binding protein |
treatment |
ISO |
|
RGD |
PMID:12874202 |
RGD:8655940 |
NCBI chr 1:167,091,521...167,095,727
Ensembl chr 1:167,091,522...167,093,560
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23178550 |
|
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
|
|
G |
Il2 |
interleukin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11312644 PMID:22245253 |
|
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
|
|
G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
|
|
G |
Il4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12484431 PMID:21804303 |
|
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
|
|
G |
Il5 |
interleukin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15347381 |
|
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
|
|
G |
Ipcef1 |
interaction protein for cytohesin exchange factors 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 1:43,563,457...43,743,424
Ensembl chr 1:43,567,842...43,638,161
|
|
G |
Itgam |
integrin subunit alpha M |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:199,495,312...199,545,738
Ensembl chr 1:199,495,298...199,623,960
|
|
G |
Jam2 |
junctional adhesion molecule 2 |
|
ISO |
|
RGD |
PMID:16297198 |
RGD:7488919 |
NCBI chr11:24,235,310...24,285,279
Ensembl chr11:24,266,345...24,285,275
|
|
G |
Jam3 |
junctional adhesion molecule 3 |
|
ISO |
|
RGD |
PMID:16297198 |
RGD:7488919 |
NCBI chr 8:28,147,110...28,208,466
Ensembl chr 8:28,147,111...28,208,466
|
|
G |
Kdr |
kinase insert domain receptor |
|
ISO |
mRNA:protein:skin: |
RGD |
PMID:7876550 |
RGD:7421586 |
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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|
G |
Kmo |
kynurenine 3-monooxygenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr13:93,684,324...93,715,378
Ensembl chr13:93,684,437...93,716,227
|
|
G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
|
RGD |
PMID:20126537 |
RGD:5687319 |
NCBI chr19:56,215,420...56,219,987
|
|
G |
Meox1 |
mesenchyme homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr10:89,797,011...89,817,009
Ensembl chr10:89,797,038...89,816,491
|
|
G |
Mir155 |
microRNA 155 |
treatment |
IEP |
|
RGD |
PMID:29404871 |
RGD:21079472 |
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
|
|
G |
Mir21 |
microRNA 21 |
treatment |
IEP |
|
RGD |
PMID:29282578 |
RGD:41404666 |
NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
|
|
G |
Mki67 |
marker of proliferation Ki-67 |
|
ISO |
|
RGD |
PMID:21294775 |
RGD:6483538 |
NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
|
|
G |
Mmp3 |
matrix metallopeptidase 3 |
|
IEP ISO |
mRNA:increased expression:skin, lymph node |
RGD |
PMID:16977379, PMID:10359808 |
RGD:2325935, RGD:8693317 |
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
IEP ISO |
mRNA:increased expression:skin, lymph node |
RGD |
PMID:16977379, PMID:10359808, PMID:10415717 |
RGD:2325935, RGD:8693317, RGD:8547869 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
|
|
G |
Mrc1 |
mannose receptor, C type 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr17:81,352,700...81,433,743
Ensembl chr17:81,352,700...81,433,743
|
|
G |
Mxd1 |
max dimerization protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 4:118,451,752...118,472,150
Ensembl chr 4:118,449,882...118,472,179
|
|
G |
Nampt |
nicotinamide phosphoribosyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
|
|
G |
Nat1 |
N-acetyltransferase 1 |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:19663877 |
RGD:8552666 |
NCBI chr16:23,970,742...23,991,573
Ensembl chr16:23,970,743...23,991,573
|
|
G |
Nat2 |
N-acetyltransferase 2 |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:16533241 |
RGD:8552663 |
NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
|
|
G |
Nfe2l2 |
nuclear factor, erythroid 2-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23564646 |
|
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
|
|
G |
Ninj1 |
ninjurin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr17:15,866,235...15,881,284
Ensembl chr17:15,866,237...15,881,327
|
|
G |
Numa1 |
nuclear mitotic apparatus protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 1:167,044,544...167,091,453
Ensembl chr 1:167,051,209...167,091,453
|
|
G |
Ogg1 |
8-oxoguanine DNA glycosylase |
|
ISO |
|
RGD |
PMID:15677345 |
RGD:8657146 |
NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
|
|
G |
Phlda1 |
pleckstrin homology-like domain, family A, member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 7:54,247,460...54,249,664
Ensembl chr 7:54,247,460...54,249,664
|
|
G |
Pim1 |
Pim-1 proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr20:8,165,423...8,169,557
Ensembl chr20:8,165,307...8,169,555
|
|
G |
Plat |
plasminogen activator, tissue type |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
|
|
G |
Prdx4 |
peroxiredoxin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr X:43,495,453...43,512,994
Ensembl chr X:43,497,763...43,512,991
|
|
G |
Qpct |
glutaminyl-peptide cyclotransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 6:1,657,110...1,689,575
Ensembl chr 6:1,657,331...1,689,559
|
|
G |
Rab32 |
RAB32, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 1:4,638,663...4,653,220
Ensembl chr 1:4,637,491...4,653,210
|
|
G |
Rgs1 |
regulator of G-protein signaling 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr13:61,066,196...61,070,772
Ensembl chr13:61,066,153...61,070,599
|
|
G |
Sat1 |
spermidine/spermine N1-acetyl transferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr X:43,626,480...43,629,767
Ensembl chr X:43,625,169...43,629,765
|
|
G |
Sele |
selectin E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr13:82,355,234...82,365,323
Ensembl chr13:82,355,471...82,365,341
|
|
G |
Slc2a3 |
solute carrier family 2 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
|
|
G |
Slc7a5 |
solute carrier family 7 member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17374397 |
|
NCBI chr19:54,693,959...54,722,563
Ensembl chr19:54,693,959...54,722,563
|
|
G |
Socs1 |
suppressor of cytokine signaling 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr10:4,956,795...4,958,472
Ensembl chr10:4,957,326...4,958,461
|
|
G |
Socs2 |
suppressor of cytokine signaling 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 7:36,495,496...36,500,878
Ensembl chr 7:36,495,480...36,499,784
|
|
G |
Spp1 |
secreted phosphoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14555839 |
|
NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
|
|
G |
St6gal1 |
ST6 beta-galactoside alpha-2,6-sialyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr11:80,927,601...80,981,424
Ensembl chr11:80,927,601...80,981,422
|
|
G |
Stac |
SH3 and cysteine rich domain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr 8:119,820,664...119,941,867
Ensembl chr 8:119,821,901...119,889,661
|
|
G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
susceptibility |
ISO |
|
RGD |
PMID:9303338 |
RGD:6482276 |
NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
|
|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
|
RGD |
PMID:20711192, PMID:18725520 |
RGD:7777133, RGD:7794737 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
|
|
G |
Tlr7 |
toll-like receptor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr X:28,486,836...28,513,004
Ensembl chr X:28,486,869...28,512,957
|
|
G |
Tmsb10 |
thymosin, beta 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17597826 |
|
NCBI chr 4:100,882,216...100,883,303
Ensembl chr 4:100,882,216...100,883,275
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15849067 |
|
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
|
|
G |
Tnfaip6 |
TNF alpha induced protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 PMID:17374397 |
|
NCBI chr 3:37,545,238...37,564,704
Ensembl chr 3:37,545,238...37,564,699
|
|
G |
Tslp |
thymic stromal lymphopoietin |
treatment |
ISO |
|
RGD |
PMID:30187507 |
RGD:38596345 |
NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
|
|
G |
Upp1 |
uridine phosphorylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033404 |
|
NCBI chr14:89,314,234...89,334,060
Ensembl chr14:89,314,176...89,334,276
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
IEP ISO |
mRNA:protein:skin: |
RGD |
PMID:7876550, PMID:7876550 |
RGD:7421586, RGD:7421586 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
|
|
|
G |
Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
associated with Severe Congenital Neutropenia; |
RGD |
PMID:20100783 |
RGD:11039037 |
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
|
|
|
G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
severity |
ISO |
DNA:snp:exon:c.1236C>T (human) |
RGD |
PMID:24040855 |
RGD:8657076 |
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
|
|
G |
Ace |
angiotensin I converting enzyme |
no_association |
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:15112973 |
RGD:8142345 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
|
IEP |
mRNA, protein:increased expression:nasal mucosa (rat) |
RGD |
PMID:15362690 |
RGD:11522724 |
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
|
|
G |
Cat |
catalase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29028686 |
|
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
|
|
G |
Ccl11 |
C-C motif chemokine ligand 11 |
treatment |
IDA |
|
RGD |
PMID:23089405 |
RGD:7248414 |
NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
|
|
G |
Ccl26 |
C-C motif chemokine ligand 26 |
|
ISO |
protein:increased expression:oronasal secretion (human) |
RGD |
PMID:23883806 |
RGD:7364793 |
NCBI chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
|
|
G |
Cd40 |
CD40 molecule |
|
ISO |
protein:increased expression:lymphocyte |
RGD |
PMID:19086656 |
RGD:8547782 |
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
|
|
G |
Cd40lg |
CD40 ligand |
|
ISO |
protein:increased expression:lymphocyte |
RGD |
PMID:19086656 |
RGD:8547782 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
|
|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
ISO |
|
RGD |
PMID:10436391 |
RGD:11344920 |
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
|
|
G |
F2 |
coagulation factor II |
|
ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:21711961 |
RGD:5147783 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
|
|
G |
Fcgr3a |
Fc fragment of IgG receptor IIIa |
susceptibility |
ISO |
DNA:polymorphism:exon:p.F158V(rs396991)(human) |
RGD |
PMID:18199088 |
RGD:5508449 |
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
|
|
G |
Hrh1 |
histamine receptor H 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23333628 |
|
NCBI chr 4:146,374,596...146,458,148
Ensembl chr 4:146,455,332...146,457,074
|
|
G |
Ifng |
interferon gamma |
treatment |
ISO IDA |
associated with Asthma |
RGD |
PMID:12787306, PMID:18510219 |
RGD:7829803, RGD:10755770 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
|
|
G |
Il10 |
interleukin 10 |
treatment |
ISO |
|
RGD |
PMID:23883806, PMID:23253209 |
RGD:7364793, RGD:7364818 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
|
|
G |
Il13 |
interleukin 13 |
susceptibility no_association |
ISO |
DNA:polymorphism:exon:c. 2044G>A (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.R130Q (rs20541) (human) DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human) DNA:SNP:promoter:-1512A>C (rs1881457) (human) |
CTD OMIM |
PMID:17091279, PMID:22852128, PMID:12928861, PMID:23996716 |
RGD:4152796, RGD:8549518, RGD:8549516, RGD:8549501 |
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
|
|
G |
Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21462799 |
RGD:8549521 |
NCBI chr X:118,443,955...118,514,716
Ensembl chr X:118,443,823...118,513,061
|
|
G |
Il17a |
interleukin 17A |
susceptibility |
ISO |
DNA:snp:promoter:c.-444A>G (human) mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:22507625, PMID:21535180 |
RGD:9068429, RGD:5147409 |
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
|
|
G |
Il18 |
interleukin 18 |
severity no_association |
ISO |
DNA:SNP:promoter:-137G>C (rs187238) (human) DNA:SNP:promoter:-140C>G (rs360721) (human) |
RGD |
PMID:22840759, PMID:22840759 |
RGD:8655914, RGD:8655914 |
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
protein:increased expression:nasal mucus |
RGD |
PMID:7750009 |
RGD:7401199 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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G |
Il2 |
interleukin 2 |
|
IEP |
|
RGD |
PMID:12592663 |
RGD:8662963 |
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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G |
Il4 |
interleukin 4 |
treatment |
ISO IEP |
|
RGD |
PMID:9893928, PMID:24620662, PMID:8908280, PMID:14653048 |
RGD:7829796, RGD:11522769, RGD:7829827, RGD:7829802 |
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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G |
Il5 |
interleukin 5 |
treatment |
IEP |
|
RGD |
PMID:23934070, PMID:24620662 |
RGD:11354976, RGD:11522769 |
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
|
IEP |
mRNA, protein:increased expression:nasal cavity epithelium |
RGD |
PMID:22972875 |
RGD:7364746 |
NCBI chr 1:214,725,482...214,756,653
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
ISO |
mRNA:increased expression:nasal mucosa (human) |
RGD |
PMID:23858718 |
RGD:8547523 |
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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G |
Pon1 |
paraoxonase 1 |
severity |
ISO |
protein:decreased activity:plasma (human) |
RGD |
PMID:23406590 |
RGD:8547583 |
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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G |
Prkg1 |
protein kinase cGMP-dependent 1 |
|
IEP |
protein:increased expression:nasal cavity epithelium |
RGD |
PMID:24012634 |
RGD:7775060 |
NCBI chr 1:248,982,039...250,300,952
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16979129 |
|
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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G |
RT1-M3-1 |
RT1 class Ib, locus M3, gene 1 |
|
ISO |
|
RGD |
PMID:20487636 |
RGD:5144132 |
NCBI chr20:1,814,661...1,833,033
Ensembl chr20:1,814,661...1,818,800
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
|
ISO |
mRNA:decreased expression:nasal mucosa, lung |
RGD |
PMID:17882576 |
RGD:5144135 |
NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
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G |
Scgb3a2 |
secretoglobin, family 3A, member 2 |
susceptibility |
ISO |
DNA:SNP: :rs7726552 (human) |
RGD |
PMID:21410962 |
RGD:5144225 |
NCBI chr18:38,292,822...38,295,744
Ensembl chr18:38,292,701...38,295,831
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G |
Serpine1 |
serpin family E member 1 |
|
ISO |
mRNA:increased expression:nasal mucosa (mouse) |
RGD |
PMID:21339035 |
RGD:8547809 |
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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G |
Tacr1 |
tachykinin receptor 1 |
|
IEP |
mRNA:increased expression:nasal mucosa |
RGD |
PMID:12768696 |
RGD:5147835 |
NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
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G |
Tgfb1 |
transforming growth factor, beta 1 |
treatment |
IEP |
|
RGD |
PMID:31368266 |
RGD:14995445 |
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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G |
Tlr2 |
toll-like receptor 2 |
severity |
ISO |
DNA:polymorphism:cds:p.R753Q(human) protein:increased expression:neutrophil: mRNA:decreased expression:nasal mucosa: |
RGD |
PMID:22402138, PMID:22555057, PMID:18381801, PMID:18219831 |
RGD:7800732, RGD:8552993, RGD:8552972, RGD:7800742 |
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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G |
Tlr4 |
toll-like receptor 4 |
severity treatment susceptibility no_association |
ISO |
DNA:polymorphism:cds:p.D299G(human) protein:increased expression:nasal lavage,leukocyte, bone marrow: protein:decreased expression:nasal mucosa: DNA:SNP: :rs1927911(human) DNA:polymorphism: :4216G>C(human) |
RGD |
PMID:22402138, PMID:22555057, PMID:22577387, PMID:17069098, PMID:23639307, PMID:19763595 |
RGD:7800732, RGD:8552993, RGD:7800740, RGD:7800738, RGD:7800736, RGD:4145354 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
protein:decreased expression:nasal mucosa: |
RGD |
PMID:22577387 |
RGD:7800740 |
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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G |
Cyp2c6v1 |
cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 |
treatment |
ISO |
associated with Eosinophilic Esophagitis; DNA:polymorphisms:: |
RGD |
PMID:26416193 |
RGD:11352743 |
NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007
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G |
Il3 |
interleukin 3 |
susceptibility |
ISO |
DNA:SNP: :rs40401(human) |
RGD |
PMID:23953855 |
RGD:13506915 |
NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
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G |
Adrb1 |
adrenoceptor beta 1 |
disease_progression |
IMP |
|
RGD |
PMID:20959119 |
RGD:6893644 |
NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
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G |
Agt |
angiotensinogen |
|
ISO |
|
RGD |
PMID:1422942 |
RGD:8548893 |
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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G |
Aspg |
asparaginase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:65671 |
|
NCBI chr 6:136,682,279...136,701,673
Ensembl chr 6:136,682,126...136,701,628
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G |
Btk |
Bruton tyrosine kinase |
treatment |
IMP |
|
RGD |
PMID:22228807 |
RGD:11040701 |
NCBI chr X:105,360,922...105,390,580
Ensembl chr X:105,360,922...105,390,580
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G |
Cabs1 |
calcium binding protein, spermatid associated 1 |
treatment |
ISO |
|
RGD |
PMID:25632019 |
RGD:14400306 |
NCBI chr14:21,746,294...21,748,356
Ensembl chr14:21,746,295...21,748,356
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G |
Cma1 |
chymase 1 |
|
ISO |
protein:increased expression:lung, mast cell (human) |
RGD |
PMID:17081716 |
RGD:5128820 |
NCBI chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
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G |
Fcgr2a |
Fc fragment of IgG receptor IIa |
susceptibility |
ISO |
associated with Agammaglobulinemia;DNA:mutation:splice junction: |
RGD |
PMID:23545275, PMID:26396093 |
RGD:11040993, RGD:11040995 |
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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G |
Hdac3 |
histone deacetylase 3 |
|
ISO |
|
RGD |
PMID:24619412 |
RGD:9590165 |
NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
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G |
Hp |
haptoglobin |
|
ISO |
|
RGD |
PMID:12147031 |
RGD:11041789 |
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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G |
Il4 |
interleukin 4 |
|
ISO |
mRNA:increased expression:lung, intestine, spleen associated with cystic echinococcosis; protein:increased expression:blood |
RGD |
PMID:24468678, PMID:28095662 |
RGD:10402796, RGD:14696684 |
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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G |
Kng2 |
kininogen 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7623993 |
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NCBI chr11:81,509,185...81,516,759
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G |
Ltb4r |
leukotriene B4 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10934231 |
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NCBI chr15:34,449,299...34,453,352
Ensembl chr15:34,452,116...34,453,171
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G |
Nlrp3 |
NLR family, pyrin domain containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19767079 |
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NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
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G |
Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
|
IMP |
|
RGD |
PMID:18480553 |
RGD:2300247 |
NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
IMP ISO |
|
RGD |
PMID:18480553, PMID:17822719 |
RGD:2300247, RGD:1642600 |
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
IMP |
|
RGD |
PMID:21604443 |
RGD:7207802 |
NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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G |
Wfdc6a |
WAP four-disulfide core domain 6A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20693069 |
|
NCBI chr 3:161,036,703...161,040,511
Ensembl chr 3:161,036,703...161,040,511
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G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8458210 |
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NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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G |
F12 |
coagulation factor XII |
|
ISO |
DNA:missense:exon:T309K,T309R ClinVar Annotator: match by term: Quincke edema |
ClinVar |
PMID:16638441 PMID:25741868, PMID:16638441 |
RGD:1601106 |
NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
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G |
Plat |
plasminogen activator, tissue type |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16184341 PMID:18453163 PMID:20547619 |
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NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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G |
RT1-Bb |
RT1 class II, locus Bb |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15784113 |
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NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15784113 |
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NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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G |
Serping1 |
serpin family G member 1 |
susceptibility |
ISO |
DNA:mutations:exon ClinVar Annotator: match by term: Angioedema |
ClinVar |
PMID:12402344 |
RGD:1600545 |
NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
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G |
Slc34a1 |
solute carrier family 34 member 1 |
|
ISO |
ClinVar Annotator: match by term: Quincke edema |
ClinVar |
PMID:16638441 PMID:25741868 |
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NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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G |
Sytl2 |
synaptotagmin-like 2 |
|
ISO |
ClinVar Annotator: match by term: Angioedema |
ClinVar |
PMID:28327206 |
|
NCBI chr 1:154,536,592...154,599,515 NCBI chr 1:156,334,298...156,440,327
Ensembl chr 1:154,579,949...154,599,430 Ensembl chr 1:154,579,949...154,599,430
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G |
Xpnpep2 |
X-prolyl aminopeptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16175507 |
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NCBI chr X:134,940,656...134,969,874
Ensembl chr X:134,940,615...134,969,996
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Angioedema induced by ACE inhibitors, susceptibility to |
ClinVar |
PMID:1551674 PMID:1972698 PMID:1978554 PMID:1978555 PMID:2503817 PMID:2912069 PMID:3393536 PMID:4974311 PMID:5305539 PMID:5369703 PMID:6698555 PMID:7203486 PMID:8611726 PMID:8860013 PMID:9342374 PMID:11445808 PMID:12768444 PMID:14278484 PMID:15315792 PMID:15502081 PMID:16119988 PMID:19594365 PMID:22018328 PMID:22906047 PMID:23479361 PMID:24460025 PMID:24586352 PMID:25326637 PMID:25741868 PMID:28492532 PMID:32860008 |
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NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
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G |
Xpnpep2 |
X-prolyl aminopeptidase 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Angioedema induced by ACE inhibitors, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:16175507 PMID:20625347 PMID:21898657 |
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NCBI chr X:134,940,656...134,969,874
Ensembl chr X:134,940,615...134,969,996
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G |
Btk |
Bruton tyrosine kinase |
treatment |
IMP |
|
RGD |
PMID:22228807 |
RGD:11040701 |
NCBI chr X:105,360,922...105,390,580
Ensembl chr X:105,360,922...105,390,580
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G |
Cfd |
complement factor D |
|
IDA |
|
RGD |
PMID:10605043 |
RGD:1624328 |
NCBI chr 7:12,634,216...12,635,939
Ensembl chr 7:12,634,216...12,635,943
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:23470165 |
RGD:9068463 |
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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G |
Fcgr2a |
Fc fragment of IgG receptor IIa |
treatment |
ISO |
|
RGD |
PMID:10762218 |
RGD:9588604 |
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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G |
Ager |
advanced glycosylation end product-specific receptor |
|
ISO |
DNA:SNP:promoter:-374T>A (human) |
RGD |
PMID:22114731 |
RGD:8695981 |
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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G |
Ccl19 |
C-C motif chemokine ligand 19 |
|
ISO |
associated with Neutropenia;mRNA:increased expression:lung |
RGD |
PMID:19783686 |
RGD:5130908 |
NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
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G |
Ccr7 |
C-C motif chemokine receptor 7 |
|
ISO |
associated with Neutropenia |
RGD |
PMID:19783686 |
RGD:5130908 |
NCBI chr10:87,057,335...87,067,444
Ensembl chr10:87,057,136...87,067,456
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G |
Cd209 |
CD209 molecule |
|
ISO |
|
RGD |
PMID:21381282 |
RGD:5131183 |
NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
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G |
Cftr |
CF transmembrane conductance regulator |
severity |
ISO |
|
RGD |
PMID:22135344 |
RGD:35673332 |
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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G |
Clec1a |
C-type lectin domain family 1, member A |
susceptibility |
ISO |
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:29489751 |
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NCBI chr 4:163,191,503...163,214,678
Ensembl chr 4:163,191,503...163,214,678
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G |
Clec7a |
C-type lectin domain containing 7A |
susceptibility |
ISO |
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:19864674 PMID:20807886 PMID:24033266 |
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NCBI chr 4:163,216,152...163,227,367
Ensembl chr 4:163,216,163...163,227,334
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G |
Crp |
C-reactive protein |
treatment |
ISO |
|
RGD |
PMID:20879853 |
RGD:9495929 |
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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G |
Il15 |
interleukin 15 |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:16893395 |
RGD:4981337 |
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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G |
Mbl1 |
mannose binding lectin 1 |
susceptibility |
ISO |
|
RGD |
PMID:20064561 |
RGD:8694071 |
NCBI chr16:18,736,154...18,742,193
Ensembl chr16:18,736,154...18,742,193
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
|
RGD |
PMID:20064561 |
RGD:8694071 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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G |
S100b |
S100 calcium binding protein B |
|
ISO |
DNA:SNP: :427C>T (human) |
RGD |
PMID:22114731 |
RGD:8695981 |
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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G |
Tlr1 |
toll-like receptor 1 |
susceptibility |
ISO |
DNA:SNPs: :p.R80T, p.N248S (human) |
RGD |
PMID:16461792 |
RGD:4889535 |
NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:19781388 |
RGD:4145322 |
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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G |
Tlr6 |
toll-like receptor 6 |
susceptibility |
ISO |
DNA:SNP: :p.S249P (human) |
RGD |
PMID:16461792 |
RGD:4889535 |
NCBI chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446
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G |
Cacng6 |
calcium voltage-gated channel auxiliary subunit gamma 6 |
susceptibility |
ISO |
DNA:SNP,haplotype:rs192808(human) |
RGD |
PMID:20860846 |
RGD:13524562 |
NCBI chr 1:64,307,684...64,322,124
Ensembl chr 1:64,305,438...64,321,241
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159, PMID:20022477 |
RGD:4145619 |
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 PMID:17641958 PMID:20485159 |
|
NCBI chr X:77,671,028...77,700,491
Ensembl chr X:77,674,150...77,700,269
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G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
DNA:SNPs: :-819T>G, 2078C>T, 2534A>G (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 PMID:20485159, PMID:15970796 |
RGD:5144000 |
NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
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G |
Fancc |
FA complementation group C |
|
ISO |
DNA:haplotype::rs4647416(human) |
RGD |
PMID:21670957 |
RGD:11045795 |
NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
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|
G |
Il4 |
interleukin 4 |
susceptibility |
ISO |
DNA:SNPs:promoter,5'UTR,intron:multiple |
RGD |
PMID:20921925 |
RGD:11528633 |
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
|
|
G |
Ltc4s |
leukotriene C4 synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9393345 PMID:9466979 PMID:10970818 PMID:20485159 |
|
NCBI chr10:35,736,486...35,743,088
Ensembl chr10:35,737,664...35,739,625
|
|
G |
Ms4a2 |
membrane spanning 4-domains A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 |
|
NCBI chr 1:227,957,363...227,965,312
Ensembl chr 1:227,957,302...227,965,386
|
|
G |
Postn |
periostin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18391768 |
|
NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
|
|
G |
Ptgdr2 |
prostaglandin D2 receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
|
NCBI chr 1:226,976,455...226,995,641
Ensembl chr 1:226,993,250...226,994,849
|
|
G |
Ptger2 |
prostaglandin E receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15496426 PMID:16502481 |
|
NCBI chr15:19,336,029...19,349,759
Ensembl chr15:19,338,175...19,350,210
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G |
Ptgir |
prostaglandin I2 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20485159 |
|
NCBI chr 1:78,833,449...78,835,832
Ensembl chr 1:78,833,157...78,837,623
|
|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
protein:increased expression:mast cell CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 PMID:20485159, PMID:9487340 |
RGD:5143936 |
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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|
G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
|
RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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|
G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
|
RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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|
G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
|
RGD |
PMID:25975240 |
RGD:11074090 |
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
|
ISO |
|
RGD |
PMID:21796142 |
RGD:5147839 |
NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
|
|
G |
Tbx21 |
T-box transcription factor 21 |
|
ISO |
ClinVar Annotator: match by term: Asthma, aspirin-induced, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15806396 PMID:16502481 |
|
NCBI chr10:85,032,799...85,049,331
Ensembl chr10:85,032,799...85,049,331
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|
G |
Tbxa2r |
thromboxane A2 receptor |
susceptibility |
ISO |
DNA:polymorphism: :795T>C (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16502481 PMID:20485159, PMID:15898979 |
RGD:11059537 |
NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
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|
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
|
ISO |
protein:increased expression:blood, lymphocyte |
RGD |
PMID:19484671 |
RGD:4890020 |
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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G |
Abcc1 |
ATP binding cassette subfamily C member 1 |
|
ISO |
|
RGD |
PMID:18931056 |
RGD:5128825 |
NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
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|
G |
Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
no_association |
ISO |
|
RGD |
PMID:19771478, PMID:16008680 |
RGD:5128835, RGD:5128831 |
NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
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|
G |
Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:19484664, PMID:19383228 |
RGD:4140913, RGD:4140919 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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|
G |
Acsl3 |
acyl-CoA synthetase long-chain family member 3 |
|
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:19221603 |
RGD:13831295 |
NCBI chr 9:84,569,601...84,593,565
Ensembl chr 9:84,569,597...84,593,565
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|
G |
Ada |
adenosine deaminase |
susceptibility |
ISO |
DNA:polymorphisms (human) |
RGD |
PMID:16754522 |
RGD:5128848 |
NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
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|
G |
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 |
RGD:4145360, RGD:4145379, RGD:4145382, RGD:1331525, RGD:4145380, RGD:4145359, RGD:4145378 |
NCBI chr 3:123,595,018...123,607,549
Ensembl chr 3:123,595,560...123,607,352
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G |
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 1:212,317,510...212,332,895
Ensembl chr 1:212,317,848...212,330,349
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G |
Adcy2 |
adenylate cyclase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
|
NCBI chr 1:37,043,071...37,698,390
Ensembl chr 1:37,507,276...37,698,390
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G |
Adcyap1r1 |
ADCYAP receptor type I |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21059121 |
|
NCBI chr 4:85,662,809...85,711,696
Ensembl chr 4:85,662,892...85,711,696
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G |
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 2:243,728,500...243,740,907
Ensembl chr 2:243,700,784...243,740,899
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
|
RGD |
PMID:19168697 |
RGD:5686821 |
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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|
G |
Adora1 |
adenosine A1 receptor |
|
ISO |
DNA:SNPs: :1405C>T (human) protein:increased expression:bronchus |
RGD |
PMID:19019667, PMID:20400685, PMID:17959644 |
RGD:4890386, RGD:4145444, RGD:5129097 |
NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
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|
G |
Adora2a |
adenosine A2a receptor |
|
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 chr20:14,265,251...14,282,873
Ensembl chr20:14,265,252...14,282,873
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|
G |
Adrb2 |
adrenoceptor beta 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism 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) |
CTD OMIM ClinVar |
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 |
RGD:5129113, RGD:1331525, RGD:4145081, RGD:4145094, RGD:4145107, RGD:4145108, RGD:4145092, RGD:4145105, RGD:4145061, RGD:4145096 |
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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|
G |
Ager |
advanced glycosylation end product-specific receptor |
treatment onset |
ISO IDA IEP |
protein:decreased expression:lung (rat) |
RGD |
PMID:21920897, PMID:23304218, PMID:23304218 |
RGD:6767554, RGD:7244279, RGD:7244279 |
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
|
|
G |
Agtr1a |
angiotensin II receptor, type 1a |
|
ISO IMP |
|
RGD |
PMID:17877756, PMID:19080339 |
RGD:5147452, RGD:5147457 |
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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|
G |
Agtr2 |
angiotensin II receptor, type 2 |
|
IEP |
mRNA, protein:increased expression:lung |
RGD |
PMID:19080339 |
RGD:5147457 |
NCBI chr X:119,389,480...119,393,845
Ensembl chr X:119,390,013...119,393,842
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|
G |
Aldh2 |
aldehyde dehydrogenase 2 family member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9600491 PMID:11506308, PMID:15118671 |
RGD:1331525 |
NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
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|
G |
Alox15 |
arachidonate 15-lipoxygenase |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:19628725, PMID:18692885 |
RGD:5509605, RGD:5509784 |
NCBI chr10:56,953,692...56,962,145
Ensembl chr10:56,953,691...56,962,161
|
|
G |
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) |
CTD OMIM |
PMID:20128419, PMID:9642160, PMID:12911785, PMID:8879219, PMID:11035107, PMID:19033731, PMID:10369259, PMID:16364163, PMID:17394438, PMID:18204779 |
RGD:4890407, RGD:5147467, RGD:5147465, RGD:5147462, RGD:4890422, RGD:4890408, RGD:734557, RGD:4890415, RGD:4890413, RGD:4890410 |
NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
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|
G |
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 |
RGD:4890405, RGD:5147467, RGD:5147466, RGD:5147465, RGD:5147464, RGD:5147462, RGD:4890422, RGD:4890407, RGD:4890409 |
NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
|
|
G |
Ambp |
alpha-1-microglobulin/bikunin precursor |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:14621078 |
RGD:6904149 |
NCBI chr 5:78,975,690...78,986,021
Ensembl chr 5:78,975,678...78,985,990
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|
G |
Ang |
angiogenin |
severity |
ISO |
protein:increased expression:sputum |
RGD |
PMID:16478840 |
RGD:6892719 |
NCBI chr15:28,022,926...28,028,636
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|
G |
Anxa1 |
annexin A1 |
|
ISO |
|
RGD |
PMID:22092555 |
RGD:7421657 |
NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
|
|
G |
Areg |
amphiregulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15696081 |
|
NCBI chr14:18,521,921...18,531,179
Ensembl chr14:18,521,930...18,531,179
|
|
G |
Arg1 |
arginase 1 |
|
ISO |
DNA:SNP: :rs2781667 (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (mouse) mRNA, protein:increased expression:lung, mononuclear cell (human) |
CTD |
PMID:19281908 PMID:19800904, PMID:20124949, PMID:12813022, PMID:12813022 |
RGD:5129205, RGD:4143187, RGD:4143187 |
NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
|
|
G |
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 |
PMID:19281908, PMID:20124949, PMID:12813022, PMID:16387594 |
RGD:5129205, RGD:4143187, RGD:5129207 |
NCBI chr 6:102,311,097...102,338,406
Ensembl chr 6:102,311,116...102,338,520
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18357729 |
|
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
|
|
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 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
|
|
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 |
RGD:4891122, RGD:8655967, RGD:4891067, RGD:4891117, RGD:4891063, RGD:4891123 |
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
|
|
G |
Bglap |
bone gamma-carboxyglutamate protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8429434 |
|
NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
|
|
G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
|
ISO |
protein:decreased expression:bronchus |
RGD |
PMID:18292470 |
RGD:5129470 |
NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
|
|
G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
|
ISO |
protein:decreased expression:bronchus |
RGD |
PMID:18292470 |
RGD:5129470 |
NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
|
|
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 |
RGD:5129505, RGD:5129519, RGD:5129512, RGD:5129501, RGD:5129537, RGD:5129538, RGD:5129681, RGD:5129517 |
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
|
|
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 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
|
|
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 3:14,049,993...14,113,931 NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
|
|
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 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
|
|
G |
Card11 |
caspase recruitment domain family, member 11 |
susceptibility |
ISO |
|
RGD |
PMID:16751370 |
RGD:11100037 |
NCBI chr12:15,700,600...15,844,512
Ensembl chr12:15,700,825...15,844,512
|
|
G |
Carm1 |
coactivator-associated arginine methyltransferase 1 |
|
IEP |
mRNA:decreased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 8:22,577,723...22,622,555
Ensembl chr 8:22,577,715...22,622,560
|
|
G |
Casp1 |
caspase 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:12396474 |
RGD:5130192 |
NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
|
|
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 |
PMID:18048809, PMID:19373626, PMID:16622028, PMID:18048809, PMID:19475625 |
RGD:5130753, RGD:5130867, RGD:5130856, RGD:5130751 |
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
|
|
G |
Ccl1 |
C-C motif chemokine ligand 1 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:20455898 |
RGD:4891420 |
NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
|
|
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 |
CTD OMIM |
PMID:16304252, PMID:22932891, PMID:17074272, PMID:9034156, PMID:17845580, PMID:18250471, PMID:20704746, PMID:17060636 |
RGD:5130930, RGD:7248416, RGD:4145461, RGD:4145451, RGD:4145457, RGD:4145392, RGD:4145387, RGD:4891485 |
NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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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 chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
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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 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
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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 |
PMID:19373627, PMID:19373627, PMID:12055264, PMID:25441643, PMID:23454776, PMID:17964702, PMID:20205697 |
RGD:4891466, RGD:11528570, RGD:11528569, RGD:8551842, RGD:2307055, RGD:4145509 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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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 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
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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 chr19:10,674,189...10,681,145
Ensembl chr19:10,674,189...10,681,145
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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 |
RGD:4891495, RGD:4891484, RGD:4891496, RGD:5130932, RGD:4891483, RGD:4891485, RGD:5130930 |
NCBI chr12:24,131,529...24,152,626
Ensembl chr12:24,148,567...24,152,625
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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 chr12:24,157,182...24,161,870
Ensembl chr12:24,158,766...24,161,869
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G |
Ccl27 |
C-C motif chemokine ligand 27 |
|
ISO |
|
RGD |
PMID:19541356 |
RGD:5130899 |
NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584
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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 2:52,379,341...52,403,979
Ensembl chr 2:52,379,341...52,404,246
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
|
RGD |
PMID:18774390 |
RGD:5130915 |
NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
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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 |
PMID:8534483, PMID:18208670, PMID:20430255, PMID:20092989 |
RGD:2307112, RGD:4891381, RGD:4891430 |
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
ISO |
|
RGD |
PMID:21388664, PMID:19965981 |
RGD:5130983, RGD:5130979 |
NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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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 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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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 |
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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 |
RGD:4145633, RGD:4145632, RGD:4145638, RGD:4145646, RGD:4145623, RGD:4145618, RGD:1601020 |
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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G |
Ccr4 |
C-C motif chemokine receptor 4 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:15993846 |
RGD:2306304 |
NCBI chr 8:122,530,152...122,535,959
Ensembl chr 8:122,530,624...122,532,070
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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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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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 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474
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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 chr10:87,057,335...87,067,444
Ensembl chr10:87,057,136...87,067,456
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G |
Ccr8 |
C-C motif chemokine receptor 8 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:15993846 |
RGD:2306304 |
NCBI chr 8:128,779,552...128,782,531
Ensembl chr 8:128,781,395...128,782,456
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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 8:132,827,325...132,842,130
Ensembl chr 8:132,828,091...132,842,130
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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 |
PMID:17607003, PMID:15940135, PMID:15741437, PMID:19096003, PMID:16387800, PMID:18312481 |
RGD:4144814, RGD:4144815, RGD:4144228, RGD:4144813, RGD:4144208 |
NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
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G |
Cd209 |
CD209 molecule |
|
ISO |
|
RGD |
PMID:21471959 |
RGD:5131188 |
NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
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G |
Cd209c |
CD209c molecule |
|
ISO |
|
RGD |
PMID:21471959 |
RGD:5131188 |
NCBI chr12:2,837,991...2,846,709
Ensembl chr12:2,838,128...2,843,772
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G |
Cd274 |
CD274 molecule |
treatment |
ISO |
associated with Chlamydia pneumonia |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
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G |
Cd28 |
Cd28 molecule |
|
ISO |
|
RGD |
PMID:21356099 |
RGD:5131612 |
NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
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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 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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G |
Cd40lg |
CD40 ligand |
severity |
ISO |
|
RGD |
PMID:9502776 |
RGD:11352238 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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G |
Cd80 |
Cd80 molecule |
|
ISO |
|
RGD |
PMID:21352203, PMID:21051864, PMID:21440530 |
RGD:5132620, RGD:5132621, RGD:5132619 |
NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
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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 |
RGD:4892277, RGD:11354965, RGD:4892555, RGD:4892199, RGD:4892202, RGD:4892280 |
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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Cdh1 |
cadherin 1 |
|
ISO |
|
RGD |
PMID:21540309 |
RGD:5132878 |
NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
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G |
Cdhr3 |
cadherin-related family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24241537 |
|
NCBI chr 6:52,344,635...52,402,144
Ensembl chr 6:52,345,240...52,401,853
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G |
Cftr |
CF transmembrane conductance regulator |
susceptibility |
ISO |
DNA:deletion: :F508del(human) |
RGD |
PMID:20298391 |
RGD:4140387 |
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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G |
Chat |
choline O-acetyltransferase |
|
IEP |
Protein:decreased expression:lung epithelium |
RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
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G |
Chi3l1 |
chitinase 3 like 1 |
susceptibility |
ISO |
human gene in mouse model CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null DNA:snp:5' utr:g.-131C>G rs4950928 (human) protein:increased secretion:serum (human) |
CTD OMIM ClinVar |
PMID:18403759, PMID:19414556, PMID:19568425, PMID:18003958 |
RGD:4892663, RGD:4892630, RGD:4892632 |
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
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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 2:208,750,348...208,797,388
Ensembl chr 2:208,749,996...208,797,402
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G |
Chml |
CHM like Rab escort protein |
|
ISO |
|
RGD |
PMID:18343558 |
RGD:5133238 |
NCBI chr13:93,740,759...93,742,624
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G |
Chrm1 |
cholinergic receptor, muscarinic 1 |
|
ISO |
|
RGD |
PMID:16931638 |
RGD:5133416 |
NCBI chr 1:224,869,087...224,885,101
Ensembl chr 1:224,882,439...224,884,205
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G |
Chrm2 |
cholinergic receptor, muscarinic 2 |
|
ISO |
DNA:SNP: :rs6962027 (human) |
RGD |
PMID:19308904 |
RGD:5509586 |
NCBI chr 4:64,089,028...64,091,090
Ensembl chr 4:64,088,900...64,091,090
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G |
Chrm3 |
cholinergic receptor, muscarinic 3 |
severity |
ISO |
|
RGD |
PMID:20394512, PMID:18348887 |
RGD:5133437, RGD:5133438 |
NCBI chr17:63,990,599...64,463,222
Ensembl chr17:63,990,599...63,994,169
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
|
ISO |
|
RGD |
PMID:18643924 |
RGD:5133701 |
NCBI chr 1:263,848,829...263,884,354
Ensembl chr 1:263,848,884...263,885,169
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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 2:250,897,980...250,923,711
Ensembl chr 2:250,897,969...250,923,744
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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 chr15:34,601,037...34,603,819
Ensembl chr15:34,601,037...34,603,819
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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 chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
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G |
Crhr2 |
corticotropin releasing hormone receptor 2 |
|
ISO |
DNA:SNPs: :multiple (human) |
RGD |
PMID:18408560 |
RGD:5130938 |
NCBI chr 4:85,286,371...85,329,374
Ensembl chr 4:85,286,372...85,329,362
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G |
Crp |
C-reactive protein |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:21140796 |
RGD:5131288 |
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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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 chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
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G |
Csf2rb |
colony stimulating factor 2 receptor subunit beta |
|
IMP |
|
RGD |
PMID:17145927 |
RGD:1601020 |
NCBI chr 7:119,554,383...119,568,248
Ensembl chr 7:119,554,354...119,568,776
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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 chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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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 |
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 |
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 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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G |
Ctnna3 |
catenin alpha 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19187332 |
|
NCBI chr20:25,063,124...26,640,428
Ensembl chr20:26,516,836...26,589,209
|
|
G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:14657873 |
RGD:4891906 |
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
|
|
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 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
|
|
G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
severity |
ISO |
|
RGD |
PMID:20371397 |
RGD:5134983 |
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
|
|
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 chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
|
|
G |
Cxcl14 |
C-X-C motif chemokine ligand 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21150878 |
|
NCBI chr17:9,109,731...9,117,754
Ensembl chr17:9,109,731...9,117,750
|
|
G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:20045013 |
RGD:5129686 |
NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
|
|
G |
Cxcl3 |
C-X-C motif chemokine ligand 3 |
severity |
ISO |
|
RGD |
PMID:20371397 |
RGD:5134983 |
NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
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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 chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
|
RGD |
PMID:15210824 |
RGD:5135447 |
NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
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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:71,614,346...71,616,997
Ensembl chr X:71,614,346...71,616,997
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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 chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
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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 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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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 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
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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 |
PMID:28807506, PMID:20514434, PMID:17081494 |
RGD:4892076, RGD:4892220 |
NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
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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 |
RGD:4889116, RGD:4784257, RGD:4782072, RGD:4888514, RGD:4843543, RGD:4848936, RGD:4781742, RGD:4781449, RGD:4847129 |
NCBI chr X:77,671,028...77,700,491
Ensembl chr X:77,674,150...77,700,269
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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 chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
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G |
Dcn |
decorin |
|
IEP |
|
RGD |
PMID:16387756 |
RGD:2311423 |
NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
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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 chr16:75,294,385...75,309,127
Ensembl chr16:75,294,376...75,309,176
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G |
Dnah5 |
dynein, axonemal, heavy chain 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
|
NCBI chr 2:80,947,730...81,143,997 NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
ISO |
DNA,mRNA:hypermethylation,decreased expression:promoter,respiratory tract: CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23423710, PMID:23196709 |
RGD:9588646 |
NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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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 chr13:39,430,590...41,173,706
Ensembl chr13:39,434,217...39,643,361
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G |
Ebi3 |
Epstein-Barr virus induced 3 |
|
ISO |
|
RGD |
PMID:21255010 |
RGD:5128488 |
NCBI chr 9:11,110,874...11,114,843
Ensembl chr 9:11,110,874...11,114,843
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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 |
PMID:16981460, PMID:20588001, PMID:11668616 |
RGD:4144895, RGD:4144869 |
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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G |
Ednra |
endothelin receptor type A |
|
ISO |
|
RGD |
PMID:17448648, PMID:18632188 |
RGD:4892322, RGD:4892288 |
NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
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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 chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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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 chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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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 chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
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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 5:73,503,406...73,552,798
Ensembl chr 5:73,503,407...73,552,798
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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 chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
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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 chr10:75,160,690...75,171,774
Ensembl chr10:75,160,690...75,171,774
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G |
Esr2 |
estrogen receptor 2 |
|
IEP |
mRNA:decreased expression:lung (rat) |
RGD |
PMID:18375789 |
RGD:8694127 |
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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G |
F2 |
coagulation factor II |
|
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 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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G |
F2rl1 |
F2R like trypsin receptor 1 |
|
ISO |
|
RGD |
PMID:19864598 |
RGD:4892589 |
NCBI chr 2:25,222,324...25,235,275
Ensembl chr 2:25,222,328...25,235,275
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G |
F7 |
coagulation factor VII |
treatment |
IDA |
|
RGD |
PMID:24523826 |
RGD:11040539 |
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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G |
Fas |
Fas cell surface death receptor |
|
IEP |
mRNA:increased expression:eosinophil |
RGD |
PMID:16337971 |
RGD:1600350 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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G |
Fcer1a |
Fc fragment of IgE receptor Ia |
severity |
ISO |
Asthma symptoms persistent despite steroids in humans Fatal asthma subjects |
RGD |
PMID:20937062, PMID:21388666 |
RGD:5128717, RGD:5128711 |
NCBI chr13:91,727,253...91,737,106
Ensembl chr13:91,730,925...91,737,053
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G |
Fcgr2a |
Fc fragment of IgG receptor IIa |
|
ISO |
protein:increased expression:alveolar macrophage |
RGD |
PMID:9117017 |
RGD:5147982 |
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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G |
Fcgr2b |
Fc fragment of IgG receptor IIb |
|
ISO |
|
RGD |
PMID:20179765 |
RGD:11344929 |
NCBI chr13:89,329,298...89,343,916
Ensembl chr13:89,327,794...89,433,815
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G |
Fcgr3a |
Fc fragment of IgG receptor IIIa |
susceptibility |
ISO |
DNA:polymorphism:exon:p.F158V(rs396991)(human) |
RGD |
PMID:18199088 |
RGD:5508449 |
NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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G |
Fga |
fibrinogen alpha chain |
treatment |
IDA |
|
RGD |
PMID:24523826 |
RGD:11040539 |
NCBI chr 2:181,997,562...182,013,726
Ensembl chr 2:182,006,242...182,013,763
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|
G |
Fkbp5 |
FKBP prolyl isomerase 5 |
|
ISO |
ClinVar Annotator: match by term: Asthma |
ClinVar |
|
|
NCBI chr20:7,976,704...8,097,290
Ensembl chr20:7,976,713...8,019,020
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G |
Foxp3 |
forkhead box P3 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27965764 PMID:29317916, PMID:28944907, PMID:27633092 |
RGD:38549365, RGD:38548920 |
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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G |
Gata3 |
GATA binding protein 3 |
|
ISO IEP |
|
RGD |
PMID:9949310, PMID:18186587 |
RGD:5128802, RGD:5128803 |
NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
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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 chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
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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 9:27,366,404...27,381,004
Ensembl chr 9:27,368,272...27,452,902
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|
G |
Gstm1 |
glutathione S-transferase mu 1 |
resistance susceptibility |
ISO |
DNA:deletion: : CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16870661 PMID:18988661, PMID:17651144, PMID:21051083, PMID:11075422 |
RGD:4142509, RGD:5490962, RGD:4140921 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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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 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
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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 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
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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 1:267,617,517...267,640,455
Ensembl chr 1:271,229,036...271,243,517 Ensembl chr 1:271,229,036...271,243,517
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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 |
PMID:11994713 PMID:16870661 PMID:18988661 PMID:29411558, PMID:10806136, PMID:15693909, PMID:20210814, PMID:20858151, PMID:18057098, PMID:16176403, PMID:18787219, PMID:18709160 |
RGD:4142526, RGD:5490999, RGD:5490991, RGD:5490985, RGD:4140951, RGD:4142519, RGD:4140946, RGD:4140947 |
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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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 chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
ISO |
|
RGD |
PMID:20628202 |
RGD:5128851 |
NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
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G |
Havcr2 |
hepatitis A virus cellular receptor 2 |
|
ISO |
|
RGD |
PMID:17517968 |
RGD:5135525 |
NCBI chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
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G |
Hdac2 |
histone deacetylase 2 |
|
ISO |
mRNA:decreased expression:macrophage: |
RGD |
PMID:20538962 |
RGD:9590321 |
NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
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G |
Hdc |
histidine decarboxylase |
|
ISO |
associated with Rhinitis;DNA:SNP: :p.E644D (rs2073440) (human) |
RGD |
PMID:20608921 |
RGD:5128884 |
NCBI chr 3:119,057,524...119,075,599
Ensembl chr 3:119,057,517...119,075,619
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
treatment |
ISO |
|
RGD |
PMID:18160846 |
RGD:10402541 |
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
|
ISO |
|
RGD |
PMID:20084838 |
RGD:5508450 |
NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
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G |
Hmox1 |
heme oxygenase 1 |
severity |
ISO |
CTD Direct Evidence: marker/mechanism mRNA;protein:increased expression:Leukocytes, Mononuclear |
CTD |
PMID:18048809, PMID:20596599, PMID:16196283 |
RGD:4145403, RGD:4145408 |
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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G |
Hnmt |
histamine N-methyltransferase |
no_association susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:600807 |
OMIM CTD ClinVar |
PMID:9547362 PMID:10752634 PMID:10803682 PMID:15693910 PMID:16205835 PMID:17651147, PMID:15693910, PMID:21040557, PMID:17651147, PMID:10803682, PMID:16205835 |
RGD:5128888, RGD:5128883, RGD:5128885, RGD:5128881, RGD:5128887 |
NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
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G |
Hp |
haptoglobin |
|
ISO |
|
RGD |
PMID:21471098, PMID:21169467 |
RGD:5144151, RGD:5509920 |
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11932298 |
|
NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO IEP |
mRNA:increased expression:aorta (mouse) CTD Direct Evidence: marker/mechanism protein:increased secretion:lung (human) protein:increased expression:lung, serum (rat) |
CTD |
PMID:17014439 PMID:25003170, PMID:20400685, PMID:20205697, PMID:20953388 |
RGD:4145444, RGD:4145509, RGD:4145331 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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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 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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G |
Ifngr1 |
interferon gamma receptor 1 |
|
ISO |
DNA: SNP: Leu467Pro |
RGD |
PMID:21737883, PMID:12851715 |
RGD:6480255, RGD:6480431 |
NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
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G |
Ifnl3 |
interferon, lambda 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22295096 |
|
NCBI chr 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
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G |
Ikzf3 |
IKAROS family zinc finger 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25256354 |
|
NCBI chr10:86,420,757...86,509,454
Ensembl chr10:86,421,582...86,509,454
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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 |
PMID:29317916, PMID:20237464, PMID:21998459, PMID:12938145, PMID:20121766, PMID:20644177, PMID:20230687, PMID:20560982 |
RGD:4140471, RGD:11046261, RGD:4143221, RGD:4140451, RGD:4140459, RGD:4140421, RGD:5131623 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il12a |
interleukin 12A |
|
ISO |
|
RGD |
PMID:17056578, PMID:17548618 |
RGD:4438438, RGD:4373570 |
NCBI chr 2:165,076,945...165,083,996
Ensembl chr 2:165,076,607...165,084,318
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G |
Il12b |
interleukin 12B |
severity susceptibility |
ISO |
DNA:polymorphisms:introns: DNA:polymorphisms:promoter, 3'utr: DNA:polymorphism:promoter |
RGD |
PMID:15322986, PMID:16210052, PMID:12241719 |
RGD:1600043, RGD:4145438, RGD:4145428 |
NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
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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 |
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 |
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 chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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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 |
RGD:4892646, RGD:4892650, RGD:4892647, RGD:4892639, RGD:4892655, RGD:4892654 |
NCBI chr X:122,724,081...122,783,801
Ensembl chr X:122,724,129...122,781,479
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G |
Il13ra2 |
interleukin 13 receptor subunit alpha 2 |
|
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:118,443,955...118,514,716
Ensembl chr X:118,443,823...118,513,061
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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 chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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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 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
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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 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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G |
Il17rb |
interleukin 17 receptor B |
|
ISO |
associated with Picornaviridae Infections |
RGD |
PMID:25273095 |
RGD:39128256 |
NCBI chr16:6,064,287...6,077,978
Ensembl chr16:6,064,288...6,077,978
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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 |
RGD:4889585, RGD:4889923, RGD:4889908, RGD:4889863, RGD:4889898, RGD:4889900, RGD:4889910 |
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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G |
Il18r1 |
interleukin 18 receptor 1 |
|
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 9:47,184,404...47,217,403
Ensembl chr 9:47,185,443...47,219,175
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G |
Il19 |
interleukin 19 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:15557163 |
RGD:5037236 |
NCBI chr13:47,663,592...47,677,869
Ensembl chr13:47,664,080...47,670,407
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
DNA:polymorphisms: : |
RGD |
PMID:18763028 |
RGD:4142802 |
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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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 |
PMID:9176529, PMID:18926055, PMID:19842845, PMID:19684087 |
RGD:4142864, RGD:4142830, RGD:4142836 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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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 |
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 |
RGD:5144235, RGD:5144245, RGD:5144244, RGD:5144243, RGD:5144242, RGD:5144240, RGD:5144239, RGD:5144237 |
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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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 |
PMID:9176529, PMID:17107994, PMID:15020290, PMID:16409203, PMID:16724092, PMID:10843772, PMID:11027520, PMID:18926055, PMID:18763028 |
RGD:4143208, RGD:4143216, RGD:4143163, RGD:4143209, RGD:4143225, RGD:4143224, RGD:4142864, RGD:4142802 |
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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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 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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G |
Il21 |
interleukin 21 |
|
ISO |
DNA:SNP:exon:5250C>T (human) |
RGD |
PMID:18802358 |
RGD:5147396 |
NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
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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 7:61,236,037...61,240,502
Ensembl chr 7:61,236,037...61,240,502
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G |
Il23r |
interleukin 23 receptor |
|
ISO |
|
RGD |
PMID:19935773 |
RGD:5037240 |
NCBI chr 4:98,203,788...98,306,729
Ensembl chr 4:98,203,958...98,305,173
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G |
Il25 |
interleukin 25 |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:25273095 |
RGD:39128256 |
NCBI chr15:33,594,852...33,599,692
Ensembl chr15:33,596,301...33,599,685
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G |
Il27 |
interleukin 27 |
susceptibility |
ISO |
DNA:SNP: :g.-964A>G (human) protein:increased expression:sputum |
RGD |
PMID:17318299, PMID:17878337, PMID:19542437, PMID:20817868 |
RGD:5128485, RGD:5128491, RGD:5128479, RGD:4145651 |
NCBI chr 1:198,003,615...198,010,112
Ensembl chr 1:198,003,683...198,008,893
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G |
Il27ra |
interleukin 27 receptor subunit alpha |
|
ISO |
|
RGD |
PMID:16081811 |
RGD:5128496 |
NCBI chr19:25,151,835...25,163,995
Ensembl chr19:25,149,897...25,164,086
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
|
IDA ISO |
|
RGD |
PMID:17351063, PMID:20525707, PMID:21377197 |
RGD:2325990, RGD:5147445, RGD:5147437 |
NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
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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 7:119,701,338...119,716,238
Ensembl chr 7:119,701,251...119,716,238
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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 chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
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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 |
PMID:19198610 PMID:21804549 PMID:24241537 PMID:27472835 PMID:29067999, PMID:28947081, PMID:25746970 |
RGD:39939002, RGD:39938968 |
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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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 |
PMID:18357729, PMID:21103062, PMID:24946644, PMID:24450480, PMID:18211752, PMID:20524005, PMID:21354484, PMID:21364926, PMID:21375458 |
RGD:4889866, RGD:10402799, RGD:10402791, RGD:2317290, RGD:5128560, RGD:5128502, RGD:5128500, RGD:5128557 |
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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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 |
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 |
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 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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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 |
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 |
RGD:4145461, RGD:11354973, RGD:5687189, RGD:5687144, RGD:5687140, RGD:4890947, RGD:4890948, RGD:4890963, RGD:4890940, RGD:4890962, RGD:4890938 |
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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G |
Il5ra |
interleukin 5 receptor subunit alpha |
|
ISO |
DNA:SNP: :c.25091G>A (human) DNA:SNPs (human) |
RGD |
PMID:20513521, PMID:20592918, PMID:17276963, PMID:10848907, PMID:10224351, PMID:16217591 |
RGD:5128625, RGD:5128614, RGD:5128617, RGD:5128627, RGD:5128623, RGD:5128626 |
NCBI chr 4:138,796,165...138,834,164
Ensembl chr 4:138,795,327...138,830,117
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G |
Il6 |
interleukin 6 |
|
ISO IEP |
CTD Direct Evidence: marker/mechanism associated with Hypersensitivity;protein:increased expression:sputum protein:increased expression:lung |
CTD |
PMID:29902480, PMID:21115736, PMID:20840469, PMID:20816188, PMID:20685386 |
RGD:5128630, RGD:4143265, RGD:4143266, RGD:4143271 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Il6r |
interleukin 6 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29902480, PMID:17496315, PMID:21115736 |
RGD:5128662, RGD:5128630 |
NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
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G |
Il9 |
interleukin 9 |
|
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 chr17:8,558,827...8,561,950
Ensembl chr17:8,558,827...8,561,950
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G |
Il9r |
interleukin 9 receptor |
|
ISO |
|
RGD |
PMID:10629460 |
RGD:5128704 |
NCBI chr10:15,697,216...15,708,684
Ensembl chr10:15,696,824...15,710,423
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G |
Irak3 |
interleukin-1 receptor-associated kinase 3 |
susceptibility |
ISO |
ClinVar Annotator: match by OMIM:611064 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:17503328 |
|
NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281
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G |
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 chr10:39,109,530...39,116,532
Ensembl chr10:39,109,522...39,116,531
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G |
Irf3 |
interferon regulatory factor 3 |
|
ISO |
|
RGD |
PMID:20673978 |
RGD:5128793 |
NCBI chr 1:100,992,244...100,997,202
Ensembl chr 1:100,992,405...100,997,198
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G |
Itgb3 |
integrin subunit beta 3 |
|
ISO |
DNA:SNPs: : |
RGD |
PMID:17556058 |
RGD:5037230 |
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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G |
Itgb6 |
integrin subunit beta 6 |
|
ISS |
OMIM:600807 |
MouseDO |
|
|
NCBI chr 3:46,652,624...46,775,362
Ensembl chr 3:46,652,623...46,726,958
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G |
Itpr1 |
inositol 1,4,5-trisphosphate receptor, type 1 |
|
IDA |
|
RGD |
PMID:21777465 |
RGD:5147661 |
NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
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G |
Kdr |
kinase insert domain receptor |
|
ISO |
associated with Rhinitis,Allergic,Seasonal;protein:increased expression:nasal cavity of mucosa: |
RGD |
PMID:20921519, PMID:17651148 |
RGD:5684385, RGD:8551771 |
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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G |
Kif3a |
kinesin family member 3a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
|
NCBI chr10:38,918,705...38,953,958
Ensembl chr10:38,918,748...38,952,785
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G |
Krt19 |
keratin 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15478392 |
|
NCBI chr10:88,055,843...88,060,560
Ensembl chr10:88,055,841...88,060,561
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G |
Lep |
leptin |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:19705789 |
RGD:5128781 |
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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G |
Lgals3 |
galectin 3 |
treatment |
ISO |
|
RGD |
PMID:16424226 |
RGD:9685213 |
NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
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G |
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 chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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G |
Lta4h |
leukotriene A4 hydrolase |
|
IEP |
mRNA:increased expression:lung, cerebral cortex (rat) |
RGD |
PMID:15715933 |
RGD:2316607 |
NCBI chr 7:34,288,333...34,320,243
Ensembl chr 7:34,288,365...34,320,235
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G |
Ltc4s |
leukotriene C4 synthase |
|
ISO |
|
OMIM |
|
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NCBI chr10:35,736,486...35,743,088
Ensembl chr10:35,737,664...35,739,625
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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 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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G |
Mefv |
MEFV innate immuity regulator, pyrin |
susceptibility |
ISO |
DNA:mutations:exons |
RGD |
PMID:18219832 |
RGD:5129186 |
NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
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G |
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 chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24469321 |
|
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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G |
Mmp10 |
matrix metallopeptidase 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16926187 |
|
NCBI chr 8:5,734,348...5,742,243
Ensembl chr 8:5,734,348...5,742,243
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
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 |
PMID:11742282 PMID:15131573, PMID:21439806, PMID:19361849, PMID:20181264, PMID:16191269, PMID:19940022 |
RGD:5129204, RGD:5129687, RGD:5130859, RGD:2325953, RGD:5129522 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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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 chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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G |
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 1:227,957,363...227,965,312
Ensembl chr 1:227,957,302...227,965,386
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:20456312 |
RGD:4891145 |
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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G |
Muc1 |
mucin 1, cell surface associated |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:11802251 |
RGD:5131281 |
NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
|
ISO |
associated with hypersensitivity |
RGD |
PMID:11062147, PMID:14594655 |
RGD:5131178, RGD:7349354 |
NCBI chr 1:214,663,929...214,693,197
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G |
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 1:214,725,482...214,756,653
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G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
|
ISO |
protein:altered expression:sputum |
RGD |
PMID:11802783, PMID:11587997 |
RGD:5131252, RGD:7364763 |
NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
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G |
Myb |
MYB proto-oncogene, transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19198610 |
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NCBI chr 1:16,658,178...16,690,135
Ensembl chr 1:16,659,442...16,687,817
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G |
Mylk |
myosin light chain kinase |
|
ISO |
|
RGD |
PMID:17472811 |
RGD:4891492 |
NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
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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 chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
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G |
Nfe2l2 |
nuclear factor, erythroid 2-like 2 |
severity |
ISO |
mRNA:increased expression:bronchoalveolar lavage cell, peripheral blood mononuclear cell (human) |
RGD |
PMID:21514635 |
RGD:6893376 |
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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G |
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 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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G |
Ngfr |
nerve growth factor receptor |
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ISO |
|
RGD |
PMID:16603479, PMID:12540484 |
RGD:5144070, RGD:5144072 |
NCBI chr10:83,389,828...83,408,061
Ensembl chr10:83,389,847...83,408,061
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G |
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 4:85,123,965...85,175,206
Ensembl chr 4:85,123,960...85,174,951
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G |
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 chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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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 chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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G |
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 |
PMID:19800904, PMID:17161822, PMID:21847581, PMID:18714530, PMID:18254476, PMID:17177683, PMID:17189532, PMID:20842520, PMID:16703578, PMID:16540403, PMID:20841959 |
RGD:4891927, RGD:5509073, RGD:4891508, RGD:4891910, RGD:4891925, RGD:4891924, RGD:4891419, RGD:4891953, RGD:4891957, RGD:4891480 |
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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G |
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 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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G |
Npsr1 |
neuropeptide S receptor 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:608584 |
CTD OMIM ClinVar |
PMID:15073379 PMID:15710598 PMID:15764725 PMID:16926187, PMID:17702965, PMID:18285428, PMID:15073379 |
RGD:4891923, RGD:4891922, RGD:4891921 |
NCBI chr 8:25,246,174...25,483,582
Ensembl chr 8:25,246,292...25,482,647
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G |
Npy |
neuropeptide Y |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9731035 |
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NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
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G |
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 |
PMID:20049212, PMID:19027876, PMID:19591959 |
RGD:5135006, RGD:5135005 |
NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
treatment susceptibility severity |
ISO IDA |
DNA:polymorphism:intron protein:increased expression, decreased activity:leukocyte, mononuclear |
RGD |
PMID:18396779, PMID:20727335, PMID:21113676, PMID:18799869, PMID:15295049 |
RGD:4892328, RGD:7174728, RGD:4892568, RGD:4892594, RGD:4892609 |
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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G |
Ntf3 |
neurotrophin 3 |
|
ISO |
protein:increased expression:lung, serum |
RGD |
PMID:11737043, PMID:17497413 |
RGD:4891123, RGD:4891068 |
NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
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G |
Ntf4 |
neurotrophin 4 |
|
ISO |
protein:increased expression:lung, serum |
RGD |
PMID:17497413 |
RGD:4891068 |
NCBI chr 1:101,405,314...101,408,145
Ensembl chr 1:101,405,314...101,408,145
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G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
|
ISO IEP |
mRNA:increased expression:lung: |
RGD |
PMID:20934630, PMID:16708804 |
RGD:5684766, RGD:5684772 |
NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
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G |
Ormdl3 |
ORMDL sphingolipid biosynthesis regulator 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21150878 PMID:25256354 |
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NCBI chr10:86,545,910...86,554,478
Ensembl chr10:86,547,339...86,554,478
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G |
P2ry12 |
purinergic receptor P2Y12 |
|
ISO |
|
RGD |
PMID:22010907, PMID:19822647 |
RGD:6480532, RGD:6480533 |
NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism protein:increased activation:lung, blood, mononuclear cell |
CTD |
PMID:18261157, PMID:12594058, PMID:26205779, PMID:26205779 |
RGD:5683910, RGD:11073727, RGD:11073727 |
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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G |
Pdcd1 |
programmed cell death 1 |
treatment |
ISO |
associated with Chlamydia pneumonia |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
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G |
Pde4b |
phosphodiesterase 4B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604 |
|
NCBI chr 5:121,759,236...122,136,814
Ensembl chr 5:121,952,977...122,136,814
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G |
Pde4d |
phosphodiesterase 4D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19426955 PMID:21611147 |
|
NCBI chr 2:40,219,999...41,468,551
Ensembl chr 2:40,554,146...41,464,264
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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 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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G |
Pgf |
placental growth factor |
|
ISO |
|
RGD |
PMID:22268141 |
RGD:6483605 |
NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
|
ISO |
|
RGD |
PMID:18754810 |
RGD:6482695 |
NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
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G |
Pin1 |
peptidylprolyl cis/trans isomerase, NIMA-interacting 1 |
|
IMP |
|
RGD |
PMID:18188456 |
RGD:8693422 |
NCBI chr 8:21,669,236...21,680,615
Ensembl chr 8:21,669,236...21,680,615
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G |
Pla2g4a |
phospholipase A2 group IVA |
|
IEP |
|
RGD |
PMID:15557087 |
RGD:1642462 |
NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
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G |
Pla2g7 |
phospholipase A2 group VII |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Asthma and atopy, susceptibility to |
OMIM CTD ClinVar |
PMID:10733466 PMID:15115767, PMID:10733466 |
RGD:1581025 |
NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
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G |
Plau |
plasminogen activator, urokinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21912604, PMID:18519237 |
RGD:4892037 |
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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G |
Ppp2ca |
protein phosphatase 2 catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22205926 |
|
NCBI chr10:37,534,449...37,554,861
Ensembl chr10:37,535,871...37,554,664
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G |
Prf1 |
perforin 1 |
|
ISO IDA |
|
RGD |
PMID:22250087, PMID:21426642 |
RGD:6482815, RGD:6482818 |
NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
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G |
Prg2 |
proteoglycan 2 |
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 3:72,385,678...72,389,245
Ensembl chr 3:72,385,666...72,389,276
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G |
Prmt1 |
protein arginine methyltransferase 1 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 1:100,971,132...100,980,411
Ensembl chr 1:100,971,273...100,980,340
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G |
Prmt2 |
protein arginine methyltransferase 2 |
|
IEP |
mRNA:increased expression:lung, spleen |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr20:13,154,513...13,212,613
Ensembl chr20:13,156,241...13,212,606
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G |
Prmt3 |
protein arginine methyltransferase 3 |
|
IEP |
mRNA:increased expression:lung |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr 1:105,113,595...105,200,253
Ensembl chr 1:105,113,595...105,200,470
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G |
Prmt5 |
protein arginine methyltransferase 5 |
|
IEP |
mRNA:increased expression:lung, spleen |
RGD |
PMID:20423833 |
RGD:9491823 |
NCBI chr15:33,156,508...33,165,893
Ensembl chr15:33,156,492...33,165,895
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G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
treatment |
ISO |
|
RGD |
PMID:26381519 |
RGD:11099992 |
NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17982072 |
|
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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G |
Ptgdr |
prostaglandin D2 receptor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
|
NCBI chr15:19,195,606...19,196,508
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G |
Ptgdr2 |
prostaglandin D2 receptor 2 |
|
ISO |
Aspirin exacerbated asthma CTD Direct Evidence: therapeutic |
CTD |
PMID:27103662, PMID:19796209, PMID:19392992, PMID:18757520 |
RGD:5135020, RGD:5135019, RGD:5135018 |
NCBI chr 1:226,976,455...226,995,641
Ensembl chr 1:226,993,250...226,994,849
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G |
Ptger3 |
prostaglandin E receptor 3 |
treatment |
IMP |
|
RGD |
PMID:23221044 |
RGD:10043366 |
NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
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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 |
RGD:5135514, RGD:5143931, RGD:5143923, RGD:5135534, RGD:5135526, RGD:5135522, RGD:5135515 |
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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G |
Rad50 |
RAD50 double strand break repair protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24241537 |
|
NCBI chr10:39,002,130...39,054,042
Ensembl chr10:39,001,498...39,054,142
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G |
Rhoa |
ras homolog family member A |
|
IEP |
|
RGD |
PMID:18391481 |
RGD:2298885 |
NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
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|
G |
Rnase3 |
ribonuclease A family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8874658 PMID:12153692 PMID:12587966 |
|
NCBI chr15:28,216,744...28,217,614
Ensembl chr15:28,216,744...28,217,614
|
|
G |
RT1-B |
RT1 class II, locus B |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:21814517 |
RGD:13506911 |
|
|
G |
RT1-Ba |
RT1 class II, locus Ba |
|
ISO |
DNA:polymorphisms (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism (human) |
CTD |
PMID:10792356, PMID:12890388, PMID:10051703, PMID:11802952, PMID:19052351 |
RGD:5147799, RGD:1331670, RGD:5147831, RGD:5147617 |
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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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 |
PMID:10792356, PMID:20298583, PMID:20159242, PMID:20214848, PMID:23331206, PMID:11802952, PMID:12890388, PMID:19052351 |
RGD:4144113, RGD:13506913, RGD:4144181, RGD:13506906, RGD:5147831, RGD:5147799, RGD:5147617 |
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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RT1-Da |
RT1 class II, locus Da |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:20159242 |
RGD:13506913 |
NCBI chr20:4,127,644...4,132,616
Ensembl chr20:4,127,644...4,132,616
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RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility no_association severity |
ISO |
DNA:polymorphisms: : CTD Direct Evidence: marker/mechanism DNA:polymorphism (human) |
CTD |
PMID:16792590, PMID:19528258, PMID:20159242, PMID:23331206, PMID:10051703, PMID:19439981, PMID:20486920, PMID:20214848 |
RGD:4144196, RGD:13506913, RGD:13506906, RGD:1331670, RGD:5147663, RGD:5147607, RGD:4144181 |
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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RT1-Ha |
RT1 class II, locus Ha |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:21814517 |
RGD:13506911 |
NCBI chr20:3,875,478...3,885,140
Ensembl chr20:3,875,706...3,881,461
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RT1-M3-1 |
RT1 class Ib, locus M3, gene 1 |
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ISO |
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RGD |
PMID:15611928 |
RGD:5144118 |
NCBI chr20:1,814,661...1,833,033
Ensembl chr20:1,814,661...1,818,800
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Runx1 |
RUNX family transcription factor 1 |
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ISO |
DNA:SNPs: :multiple |
RGD |
PMID:21803869 |
RGD:6482835 |
NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
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Runx3 |
RUNX family transcription factor 3 |
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ISS |
OMIM:600807 |
MouseDO |
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NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
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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 |
PMID:9550363, PMID:12921604, PMID:21255142, PMID:15467329 |
RGD:5144052, RGD:5144226, RGD:5144148 |
NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
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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 OMIM:600807 mRNA,protein:decreased expression:;lung protein:increased expression:sputum |
CTD OMIM ClinVar |
PMID:11813133, PMID:11813133, PMID:15531759, PMID:16456148, PMID:17218572, PMID:18089940, PMID:18201431 |
RGD:5144229, RGD:5128690, RGD:5144233, RGD:5144232, RGD:5144231, RGD:5144230 |
NCBI chr18:38,292,822...38,295,744
Ensembl chr18:38,292,701...38,295,831
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Sell |
selectin L |
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ISO |
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RGD |
PMID:21437035, PMID:21515793 |
RGD:5685685, RGD:5685696 |
NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
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Serpina1 |
serpin family A member 1 |
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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 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Sftpa1 |
surfactant protein A1 |
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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 chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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Sftpb |
surfactant protein B |
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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 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
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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 chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
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Sftpd |
surfactant protein D |
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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 chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
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Slc11a1 |
solute carrier family 11 member 1 |
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ISO |
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RGD |
PMID:12847242 |
RGD:5684966 |
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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Slc18a3 |
solute carrier family 18 member A3 |
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IEP |
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RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
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Slc22a1 |
solute carrier family 22 member 1 |
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IEP |
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RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr 1:48,273,639...48,300,645
Ensembl chr 1:48,273,611...48,300,655
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Slc5a7 |
solute carrier family 5 member 7 |
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IEP |
mRNA:decreased expression:lung |
RGD |
PMID:17328924 |
RGD:5686690 |
NCBI chr 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815
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Slc6a4 |
solute carrier family 6 member 4 |
susceptibility |
ISO |
DNA:repeat:intron (human) |
RGD |
PMID:19806585 |
RGD:4889460 |
NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
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Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22867017 |
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NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Sod2 |
superoxide dismutase 2 |
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ISO |
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RGD |
PMID:15743779 |
RGD:1581231 |
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Stat4 |
signal transducer and activator of transcription 4 |
treatment |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28807506, PMID:18211752 |
RGD:2317290 |
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
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Stat6 |
signal transducer and activator of transcription 6 |
treatment |
IEP IDA |
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RGD |
PMID:19087723, PMID:16083555 |
RGD:7244151, RGD:7244153 |
NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
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Tac1 |
tachykinin, precursor 1 |
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ISO |
protein:increased expression:lung |
RGD |
PMID:11031342 |
RGD:5147836 |
NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
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Tacr1 |
tachykinin receptor 1 |
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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 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
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Tacr2 |
tachykinin receptor 2 |
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ISO |
DNA:SNP:cds:p.G231E (human) |
RGD |
PMID:20175803, PMID:19880429 |
RGD:5147640, RGD:5147641 |
NCBI chr20:31,892,515...31,905,153
Ensembl chr20:31,892,515...31,905,153
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Tap1 |
transporter 1, ATP binding cassette subfamily B member |
susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:12640628 |
RGD:5147845 |
NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
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Tbx21 |
T-box transcription factor 21 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15806396 |
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NCBI chr10:85,032,799...85,049,331
Ensembl chr10:85,032,799...85,049,331
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Tbxa2r |
thromboxane A2 receptor |
susceptibility severity |
ISO |
DNA:polymorphism:cds:924T>C(human) |
GAD RGD |
PMID:15118671, PMID:12000493, PMID:15805995 |
RGD:1331525, RGD:11059535, RGD:11059534 |
NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
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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 |
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 |
RGD:4145295, RGD:4145280, RGD:4145143, RGD:4145132, RGD:4145142, RGD:4145113, RGD:4145139, RGD:4145144, RGD:4143443, RGD:4145299, RGD:4145297 |
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Thbd |
thrombomodulin |
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ISO |
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RGD |
PMID:20709825 |
RGD:5684984 |
NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
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Timp3 |
TIMP metallopeptidase inhibitor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16926187 |
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NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
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Tlr1 |
toll-like receptor 1 |
susceptibility |
ISO |
DNA:SNP (human) |
RGD |
PMID:18547625 |
RGD:4889528 |
NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
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Tlr10 |
toll-like receptor 10 |
susceptibility |
ISO |
DNA:SNP (human) |
RGD |
PMID:18547625 |
RGD:4889528 |
NCBI chr14:45,073,652...45,082,242
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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 |
RGD:4144228, RGD:7800732, RGD:2312679, RGD:4145343, RGD:4145352, RGD:4144171, RGD:4145334 |
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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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 chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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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 |
RGD:4144817, RGD:4144176, RGD:4144171, RGD:4144190, RGD:4144141, RGD:4144188, RGD:4144198 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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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 chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446
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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 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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Tnc |
tenascin C |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple (human) protein:increased expression:bronchus basement membrane DNA:SNP:exon:p.L1677I (human) |
CTD |
PMID:16115819, PMID:17125141, PMID:18305139, PMID:9310019, PMID:16115819 |
RGD:4889565, RGD:4889589, RGD:4889572, RGD:4889569 |
NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
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Tnf |
tumor necrosis factor |
susceptibility no_association |
ISO |
DNA:polymorphism:promoter: c. -308A>G (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:600807 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 CTD ClinVar |
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 PMID:11826025 PMID:11896460 PMID:12356572 PMID:12485196 PMID:12746914 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16456144 PMID:16865291 PMID:17450233 PMID:20049212, | |